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Sample records for sporadic error-increasing effects

  1. Effects of sulindac on sporadic colorectal adenomatous polyps.

    OpenAIRE

    Matsuhashi, N; Nakajima, A; Fukushima, Y.; Yazaki, Y.; Oka, T.

    1997-01-01

    BACKGROUND: Although sulindac is known to cause regression of colorectal adenomatous polyps in familial adenomatous polyposis, less is known about the effect of sulindac on sporadic adenomas. The precise mechanisms of these effects also remain to be determined. AIMS: Sulindac was given to patients with sporadic colorectal adenomatous polyps to evaluate its effects on them, and histological analysis was performed to elucidate the mechanism of the polyp regression, as well the kind of adenomato...

  2. Selective antagonism of the error-increasing effect of morphine by naloxone in a repeated-acquisition task.

    OpenAIRE

    D. M. Thompson; Moerschbaecher, J M

    1981-01-01

    Pigeons acquired a different four-response chain each session by responding sequentially on three keys in the presence of four colors. The response chain was maintained by food presentation under a fixed-ratio schedule. Errors produced a brief timeout but did not reset the chain. When either morphine or naloxone was administered alone, the overall response rate decreased with increasing doses. The rate-decreasing effect was accompanied by an increase in percent errors with morphine but not wi...

  3. Solar eclipse effects of 22 July 2009 on Sporadic-E

    OpenAIRE

    Chen, G; Zhao, Z; Zhou, C.; Yang, G (Gang); Zhang, Y.

    2010-01-01

    The total solar eclipse of 22 July 2009, was visible from some regions of China and the intense sporadic-E (Es) that broke out during the solar eclipse period over the eastern China provided a unique chance to study solar eclipse effects on the Es-layer. The ground based high-frequency (HF) vertical-incidence and oblique-incidence backscatter radio systems in Wuhan and an HF oblique receivers located in Suzhou were operated to detect the Es-layer. The vertical, oblique and backscatter ionogra...

  4. Solar eclipse effects of 22 July 2009 on Sporadic-E

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    G. Chen

    2010-02-01

    Full Text Available The total solar eclipse of 22 July 2009, was visible from some regions of China and the intense sporadic-E (Es that broke out during the solar eclipse period over the eastern China provided a unique chance to study solar eclipse effects on the Es-layer. The ground based high-frequency (HF vertical-incidence and oblique-incidence backscatter radio systems in Wuhan and an HF oblique receivers located in Suzhou were operated to detect the Es-layer. The vertical, oblique and backscatter ionograms of 22 and 23 July were recorded, processed and analyzed. The analyzing results show that the critical frequency of Es, the hop number and power of the rays transmitted from Wuhan to Suzhou as well as the Doppler frequency shift of the one-hop oblique-incidence waves reflected by the Es-layer all increased during the solar eclipse period. These variations are displayed in the paper and explained to be induced by the wind-field, which is produced by the powerful meridional air flows from the sunshine region to the moon's shadow.

  5. Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism in EGF gene on the risk of sporadic colorectal cancer in Iranian population.

    Science.gov (United States)

    Daraei, A; Salehi, R; Salehi, M; Emami, M H; Janghorbani, M; Jonghorbani, M; Mohamadhashem, F; Tavakoli, H

    2012-06-01

    Colorectal cancer (CRC) is among the major causes of cancer-related morbidity, mortality, and human health problem worldwide. Single-nucleotide polymorphisms (SNPs) in different genes are reported to be effective in increased risk of CRC in different ethnic population. We conducted a case-control study in patients diagnosed with sporadic colorectal cancer (n = 115) and healthy controls based on colonoscopy evidences (n = 120).In this replicative study, we aimed to investigate the association of two previously reported polymorphisms, rs6983267 and rs4444903, with sporadic colorectal cancer in a subset of Iranian patients. Genotyping was performed via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. A significant relation was found between rs6983267 variant in the 8q24 region and colorectal cancer. The distribution of G/G genotypes among sporadic CRC patients was more frequent than that in the control group (P value = 0.001). The frequency of the G allele in the colorectal cancer patient group was also higher than that in the control group (65% vs. 48%; P value = 0.001). Compared with GG genotype, individuals with G/T and T/T genotypes had lower risk to develop sporadic CRC (OR = 0.357, 95% CI = 0.201-0.635). For the rs4444903 SNP, no significant association (P value = 0.149) was found with colorectal cancer risk. In conclusion, our findings suggest that the 8q24 rs6983267 SNP may play a pivotal role in the development of sporadic CRC in Iranian population. Therefore, it may be included as a potential genetic susceptibility marker for sporadic CRC. PMID:21567271

  6. Introduction to Sporadic Groups

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    Luis J. Boya

    2011-01-01

    Full Text Available This is an introduction to finite simple groups, in particular sporadic groups, intended for physicists. After a short review of group theory, we enumerate the 1+1+16=18 families of finite simple groups, as an introduction to the sporadic groups. These are described next, in three levels of increasing complexity, plus the six isolated ''pariah'' groups. The (old five Mathieu groups make up the first, smallest order level. The seven groups related to the Leech lattice, including the three Conway groups, constitute the second level. The third and highest level contains the Monster group M, plus seven other related groups. Next a brief mention is made of the remaining six pariah groups, thus completing the 5+7+8+6=26 sporadic groups. The review ends up with a brief discussion of a few of physical applications of finite groups in physics, including a couple of recent examples which use sporadic groups.

  7. Sporadic and Exceptional

    CERN Document Server

    He, Yang-Hui

    2015-01-01

    We study the web of correspondences linking the exceptional Lie algebras $E_{8,7,6}$ and the sporadic simple groups Monster, Baby and the largest Fischer group. This is done via the investigation of classical enumerative problems on del Pezzo surfaces in relation to the cusps of certain subgroups of $PSL(2,R)$ for the relevant McKay-Thompson series in Generalized Moonshine. We also study Conway's sporadic group, as well as its association with the Horrocks-Mumford bundle.

  8. Effects of blood-flow-restricted resistance training on muscle function in a 74-year-old male with sporadic inclusion body myositis: a case report

    DEFF Research Database (Denmark)

    Jørgensen, A N; Aagaard, P; Nielsen, J L; Frandsen, U; Diederichsen, L P

    2015-01-01

    Sporadic inclusion body myositis (sIBM) is a systemic disease that is characterized by substantial skeletal muscle weakness and muscle inflammation, leading to impaired physical function. The objective was to investigate the effect of low-load resistance exercise with concurrent partial blood flow restriction to the working muscles (blood-flow-restricted (BFR) training) in a patient with sIBM. The training consisted of 12 weeks of lower extremity BFR training with low training loads (~25-RM). Th...

  9. [Effect of the novel nootropic and neuroprotective dipeptide noopept on the streptozotocin-induced model of sporadic Alzheimer disease in rats].

    Science.gov (United States)

    Ostrovskaia, R U; Tsaplina, A P; Vakhitova, Iu V; Salimgareeva, M Kh; Iamidanov, R S

    2010-01-01

    Streptozotocin-intracerebroventricularly treated rats are proposed as an experimental model of sporadic Alzheimer disease (AD). Diabetogenic toxin streptozotocin (STZ) administered in both cerebral ventricles in a dose of 3 mg/kg decreases the expression of NGF and BDNF mainly in the hippocampus and increases the content of malonic dialdehyde (MDA)--a product of lipid peroxidation--in the brain tissues. These metabolic changes are accompanied by a pronounced cognitive deficiency, which is manifested by long-term memory deterioration in the passive avoidance test. These manifestations of pathology are not accompanied by hyperglycemia in the case of intraventricular STZ administration, in contrast to the systemic (in particular, intraperitoneal) route of introduction that causes a pronounced increase in the blood glucose level. These results are consistent with the existing notions that (i) STZ administered intraventricularly provokes a complex of changes imitating the sporadic AD and (ii) this disease can be considered as a manifestation of type-III diabetes. The new original cognition enhancing and neuroprotective dipeptide noopept decreases the aforementioned metabolic changes and the accompanying long-term deterioration of the memory. Previously, this systemically active dipeptide was shown to be capable of increasing expression of NGF and BDNF in the hippocampus, stimulating the antibody production to beta-amyloid, inhibiting the lipid peroxidation, activating the endogenous antioxidant systems, and decreasing the rate of glutamate release (cholinopositive effect). Taken together, these data indicate that noopept can be considered as a multipotent substance acting upon several important pathogenic chainsof the sporadic AD. PMID:20184279

  10. Sporadic Reinhardt polygons

    CERN Document Server

    Hare, Kevin G

    2012-01-01

    Let $n$ be a positive integer, not a power of two. A \\textit{Reinhardt polygon} is a convex $n$-gon that is optimal in three different geometric optimization problems: it has maximal perimeter relative to its diameter, maximal width relative to its diameter, and maximal width relative to its perimeter. For almost all $n$, there are many Reinhardt polygons with $n$ sides, and many of them exhibit a particular periodic structure. While these periodic polygons are well understood, for certain values of $n$, additional Reinhardt polygons exist that do not possess this structured form. We call these polygons \\textit{sporadic}. We completely characterize the integers $n$ for which sporadic Reinhardt polygons exist, showing that these polygons occur precisely when $n=pqr$ with $p$ and $q$ distinct odd primes and $r\\geq2$. We also prove that a positive proportion of the Reinhardt polygons with $n$ sides are sporadic for almost all integers $n$, and we investigate the precise number of sporadic Reinhardt polygons that...

  11. Effects of blood-flow-restricted resistance training on muscle function in a 74-year-old male with sporadic inclusion body myositis: a case report

    DEFF Research Database (Denmark)

    JØrgensen, A N; Aagaard, P

    2015-01-01

    Sporadic inclusion body myositis (sIBM) is a systemic disease that is characterized by substantial skeletal muscle weakness and muscle inflammation, leading to impaired physical function. The objective was to investigate the effect of low-load resistance exercise with concurrent partial blood flow restriction to the working muscles (blood-flow-restricted (BFR) training) in a patient with sIBM. The training consisted of 12 weeks of lower extremity BFR training with low training loads (~25-RM). The patient was tested for mechanical muscle function and functional capacity before and after 6 and 12 weeks of training. Maximal horizontal gait speed increased by 19%, which was accompanied by 38-92% improvements in mechanical muscle function (maximal isometric strength, rate of force development and muscle power). In conclusion, BFR training was well tolerated by the patient with sIBM and led to substantial improvements in mechanical muscle function and gait speed.

  12. Genetics Home Reference: Sporadic hemiplegic migraine

    Science.gov (United States)

    ... Research studies PubMed Recent literature Conditions > Sporadic hemiplegic migraine On this page: Description Genetic changes Inheritance Diagnosis ... definitions Reviewed February 2014 What is sporadic hemiplegic migraine? Sporadic hemiplegic migraine is a rare form of ...

  13. Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: A case control study

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    Friedrichs Nicolaus

    2008-07-01

    Full Text Available Abstract Background The genetics of sporadic and non-syndromic familial colorectal cancer (CRC is not well defined. However, genetic factors that promote the development of precursor lesions, i.e. adenomas, might also predispose to CRC. Recently, an association of colorectal adenoma with two variants (c.507C>T;p.L169L and c.511G>T;p.A171S of the ileal sodium dependent bile acid transporter gene (SLC10A2 has been reported. Here, we reconstructed haplotypes of the SLC10A2 gene locus and tested for association with non-syndromic familial and sporadic CRC compared to 'hyper-normal' controls who displayed no colorectal polyps on screening colonoscopy. Methods We included 150 patients with sporadic CRC, 93 patients with familial CRC but exclusion of familial adenomatous polyposis and Lynch's syndrome, and 204 'hyper-normal' controls. Haplotype-tagging SLC10A2 gene variants were identified in the Hapmap database and genotyped using PCR-based 5' exonuclease assays with fluorescent dye-labelled probes. Haplotypes were reconstructed using the PHASE algorithm. Association testing was performed with both SNPs and reconstructed haplotypes. Results Minor allele frequencies of all SLC10A2 polymorphisms are within previously reported ranges, and no deviations from Hardy-Weinberg equilibrium are observed. However, we found no association with any of the SLC10A2 haplotypes with sporadic or familial CRC in our samples (all P values > 0.05. Conclusion Common variants of the SLC10A2 gene are not associated with sporadic or familial CRC. Hence, albeit this gene might be associated with early stages of colorectal neoplasia, it appears not to represent a major risk factor for progression to CRC.

  14. Effects of Chinese herbal medicine Yinsiwei compound on spatial learning and memory ability and the ultrastructure of hippocampal neurons in a rat model of sporadic Alzheimer disease

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    Yong-chang Diwu

    2011-02-01

    Full Text Available Objective: To study the effects of Chinese herbal medicine Yinsiwei compound (YSW on spatial learning and memory ability in rats with sporadic Alzheimer disease (SAD and the ultrastructural basis of the hippocampal neurons. Methods: A rat model of SAD was established by intracerebroventricular injection of streptozotocin. The rats were divided into six groups: sham-operation group, model group, donepezil control group, and YSW low, medium and high dose groups. Drug interventions were started on the 21st day after modeling and each treatment group was given the corresponding drugs by gavage for two months. Meanwhile, the model group and the sham-operation group were given the same volume of distilled water by gavage once a day for two months. The Morris water maze was adopted to test spatial learning and memory ability of the rats. The place navigation test and the spatial probe test were conducted. The escape latency, total swimming distance and swimming time in the target quadrant of the rats were recorded. Also, the hippocampus tissues of rats were taken out and the ultrastructure of hippocampus neurons were observed by an electron microscope.Results: In the place navigation test, compared with the model group, the mean escape latency and the total swimming distance of the donepezil group and the YSW low, medium and high dose groups were significantly shortened (P<0.05 or P<0.01. In the space probe test, the swimming time of each treatment group in the target quadrant was significantly longer than that of the model group (P<0.05 or P<0.01. For most of the test period, the donepezil group had no significant change compared with the YSW low, medium and high dose groups, respectively. The ultrastructure of the hippocampus neurons under the electron microscope also confirmed the efficacy of the drug treatment.Conclusion: Chinese herbal medicine YSW compound can improve spatial learning and memory impairment of rats with SAD. The ultrastructural basis may be that it can protect the microtubule structures of hippocampal neurons and prevent nerve axons from being damaged.

  15. APC Mutations in Sporadic Medulloblastomas

    OpenAIRE

    Huang, Huatao; Mahler-Araujo, Betania M.; Sankila, Anna; Chimelli, Leila; Yonekawa, Yasuhiro; Kleihues, Paul; Ohgaki, Hiroko

    2000-01-01

    The cerebellar medulloblastoma (WHO Grade IV) is a highly malignant, invasive embryonal tumor with preferential manifestation in children. Several molecular alterations appear to be involved, including isochromosome 17q and the p53, PTCH, and ?-catenin gene mutations. In this study, 46 sporadic medulloblastomas were screened for the presence of mutations in genes of the Wnt signaling pathway (APC and ?-catenin). Single-strand conformational polymorphism (SSCP) analysis followed by direct DNA ...

  16. Dynamical model for the toroidal sporadic meteors

    Energy Technology Data Exchange (ETDEWEB)

    Pokorný, Petr; Vokrouhlický, David [Institute of Astronomy, Charles University, V Holešovi?kách 2, CZ-18000 Prague 8 (Czech Republic); Nesvorný, David [Department of Space Studies, Southwest Research Institute, 1050 Walnut Street, Suite 300, Boulder, CO 80302 (United States); Campbell-Brown, Margaret; Brown, Peter, E-mail: petr.pokorny@volny.cz, E-mail: vokrouhl@cesnet.cz, E-mail: davidn@boulder.swri.edu, E-mail: margaret.campbell@uwo.ca, E-mail: pbrown@uwo.ca [Department of Physics and Astronomy, University of Western Ontario, London, ON N6A 3K7 (Canada)

    2014-07-01

    More than a decade of radar operations by the Canadian Meteor Orbit Radar have allowed both young and moderately old streams to be distinguished from the dispersed sporadic background component. The latter has been categorized according to broad radiant regions visible to Earth-based observers into three broad classes: the helion and anti-helion source, the north and south apex sources, and the north and south toroidal sources (and a related arc structure). The first two are populated mainly by dust released from Jupiter-family comets and new comets. Proper modeling of the toroidal sources has not to date been accomplished. Here, we develop a steady-state model for the toroidal source of the sporadic meteoroid complex, compare our model with the available radar measurements, and investigate a contribution of dust particles from our model to the whole population of sporadic meteoroids. We find that the long-term stable part of the toroidal particles is mainly fed by dust released by Halley type (long period) comets (HTCs). Our synthetic model reproduces most of the observed features of the toroidal particles, including the most troublesome low-eccentricity component, which is due to a combination of two effects: particles' ability to decouple from Jupiter and circularize by the Poynting-Robertson effect, and large collision probability for orbits similar to that of the Earth. Our calibrated model also allows us to estimate the total mass of the HTC-released dust in space and check the flux necessary to maintain the cloud in a steady state.

  17. Tramadol Use in Premature Ejaculation: Daily Versus Sporadic Treatment

    Science.gov (United States)

    Khan, Amil H.; Rasaily, Deepa

    2013-01-01

    Aim: Premature ejaculation (PME) is defined as ejaculation with the minimal sexual stimulation before, on or shortly after penetration and or before a person wishes it. It is a function of the time between intra-vaginal penetration and intra-vaginal ejaculation. Tramadol has shown efficacy in PME when used as sporadic basis. In this study, we compared the use of 100 mg of tramadol as sporadic treatment (administered 6-8 h before coitus) versus continued treatment with the objective of evaluating the therapeutic results of both modalities. We assumed our alternative hypothesis that they have similar effects. Materials and Methods: A prospective study was carried out on 60 patients divided into two groups of 30 patients each. Intra-vaginal ejaculation latency time (IELT) and coital frequency were measured both prior to and after the treatment. Group A received tramadol 100 mg daily for 4 weeks and on request (sporadically) for 4 weeks more. Group B was given placebo in the same manner. Results were statistically analyzed using the Student t-test. Results: Mean IELT prior to treatment was 59.2 s in Group A and 58.7 s in Group B. Mean pre-treatment coital frequency was 2.44 times/week for Group A and 2.13 times/week for Group B. Mean IELT was 202.5 s after continued tramadol treatment and 238.2 s after sporadic treatment in Group A. Mean IELT with daily placebo was 94.8 s and with sporadic placebo was 96.6 s. Coital frequency increased to 4.32 times/week with daily tramadol treatment and 4.86 times with sporadic treatment. Coital frequency increased to 2.88 times/week with daily placebo treatment and 3.23 times with sporadic treatment. Conclusions: The results of PME treatment with tramadol are similar with both continued and sporadic administration. The sex life of patients improved and they reported greater satisfaction with the sporadic treatment. PMID:24249927

  18. Tramadol use in premature ejaculation: Daily versus sporadic treatment

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    Amil H Khan

    2013-01-01

    Full Text Available Aim: Premature ejaculation (PME is defined as ejaculation with the minimal sexual stimulation before, on or shortly after penetration and or before a person wishes it. It is a function of the time between intra-vaginal penetration and intra-vaginal ejaculation. Tramadol has shown efficacy in PME when used as sporadic basis. In this study, we compared the use of 100 mg of tramadol as sporadic treatment (administered 6-8 h before coitus versus continued treatment with the objective of evaluating the therapeutic results of both modalities. We assumed our alternative hypothesis that they have similar effects. Materials and Methods: A prospective study was carried out on 60 patients divided into two groups of 30 patients each. Intra-vaginal ejaculation latency time (IELT and coital frequency were measured both prior to and after the treatment. Group A received tramadol 100 mg daily for 4 weeks and on request (sporadically for 4 weeks more. Group B was given placebo in the same manner. Results were statistically analyzed using the Student t-test. Results : Mean IELT prior to treatment was 59.2 s in Group A and 58.7 s in Group B. Mean pre-treatment coital frequency was 2.44 times/week for Group A and 2.13 times/week for Group B. Mean IELT was 202.5 s after continued tramadol treatment and 238.2 s after sporadic treatment in Group A. Mean IELT with daily placebo was 94.8 s and with sporadic placebo was 96.6 s. Coital frequency increased to 4.32 times/week with daily tramadol treatment and 4.86 times with sporadic treatment. Coital frequency increased to 2.88 times/week with daily placebo treatment and 3.23 times with sporadic treatment. Conclusions: The results of PME treatment with tramadol are similar with both continued and sporadic administration. The sex life of patients improved and they reported greater satisfaction with the sporadic treatment.

  19. Adult onset sporadic ataxias: a diagnostic challenge

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    Orlando Graziani Povoas Barsottini

    2014-03-01

    Full Text Available Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.

  20. Sporadic wind wave horse-shoe patterns

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    S. Yu. Annenkov

    1999-01-01

    Full Text Available The work considers three-dimensional crescent-shaped patterns often seen on water surface in natural basins and observed in wave tank experiments. The most common of these 'horse-shoe-like' patterns appear to be sporadic, i.e., emerging and disappearing spontaneously even under steady wind conditions. The paper suggests a qualitative model of these structures aimed at explaining their sporadic nature, physical mechanisms of their selection and their specific asymmetric form. First, the phenomenon of sporadic horse-shoe patterns is studied numerically using the novel algorithm of water waves simulation recently developed by the authors (Annenkov and Shrira, 1999. The simulations show that a steep gravity wave embedded into widespectrum primordial noise and subjected to small nonconservative effects typically follows the simple evolution scenario: most of the time the system can be considered as consisting of a basic wave and a single pair of oblique satellites, although the choice of this pair tends to be different at different instants. Despite the effective low-dimensionality of the multimodal system dynamics at relatively sho ' rt time spans, the role of small satellites is important: in particular, they enlarge the maxima of the developed satellites. The presence of Benjamin-Feir satellites appears to be of no qualitative importance at the timescales under consideration. The selection mechanism has been linked to the quartic resonant interactions among the oblique satellites lying in the domain of five-wave (McLean's class II instability of the basic wave: the satellites tend to push each other out of the resonance zone due to the frequency shifts caused by the quartic interactions. Since the instability domain is narrow (of order of cube of the basic wave steepness, eventually in a generic situation only a single pair survives and attains considerable amplitude. The specific front asymmetry is found to result from the interplay of quartic and quintet interactions and non-conservative effects: the growing and grown satellites have a specific value of phase with respect to the basic wave that corresponds to downwind orientation of the convex sides of wave fronts. As soon as the phase relation is violated, the satellite's amplitude quickly decreases down to the noise level.

  1. Vascular changes in sporadic ergotism

    International Nuclear Information System (INIS)

    Whereas the epidemic form of ergotism has been rare in the 20th century, the sporadic form has a wide distribution as a consequence of therapy with ergot-derivative drugs. Favourable prognosis of the condition, with complete recovery from the ischemic peripheral circulatory disorders can be obtained by early diagnosis. Precise evaluation of the history, with recognition of treatment of migraine headache or postpartum hemorraghe with ergot alkaloids, can be determinative in diagnosis. The specific pattern of the angiographic findings, as we saw it in 6 cases within the last 4 years, decisively confirms the diagnosis. We could demonstrate thread-, thorn- and hour glass-like narrowing of the vessels, due to spasm. Total occlusion with the development of collaterals may occur, but we saw no thrombus formation. The stenotic arterial segments had smooth margins. The distribution of the involved arteries was more focal than generalized and more peripheral than central. In two cases spasm could be abolished immediately by a pharmaceutical (i.a. injection of tolazoline) or by anesthetic procedures (halothane). The phenomenologic data, together with the complete reversal of the circulatory ischemic disorders after therapy (particularly the absolute ban of ergots), is so specific that other diseases of ischemic nature (emboli, arteriosclerosis, Buerger's disease, fibromuscular hyperplasia) can be excluded. (orig.)

  2. Effects of long-term resistance exercise training on autophagy in rat skeletal muscle of chloroquine-induced sporadic inclusion body myositis

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    Kwon, Insu; Lee, Youngil; Cosio-Lima, Ludmila M.; Cho, Joon-Yong; Yeom, Dong-Chul

    2015-01-01

    Purpose We examined whether resistance exercise training restores impaired autophagy functions caused by Chloroquine (CQ)-induced Sporadic Inclusion Body Myositis (sIBM) in rat skeletal muscle. Methods Male wistar rats were randomly assigned into three groups: Sham (n = 6), CQ (n = 6), and CQ + Exercise (CE, n = 6). To create a rat model of sIBM, rats in the CQ and CE group were intraperitoneally injected with CQ 5 days a week for 16 weeks. Rats in the CE group performed resistance exercise training 3 times a week for 8 weeks in conjunction with CQ starting from week 9 to week 16. During the training period, maximal carrying load, body weight, muscle weight, and relative muscle weight were measured. Autophagy responses were examined by measuring specific markers. Results While maximal carrying capacity for resistance exercise training was dramatically increased in the CE group, no significant changes occurred in the skeletal muscle weight as well as in the relative muscle weight of CE compared to the other groups. CQ treatment caused significant increases in the levels of Beclin-1 and p62, and decreases in the levels of LAMP-2 proteins. Interestingly, no significant differences in the LC3-II/I ratio or the LC3-II protein levels were observed. Although CQ-treatment groups suppressed the levels of the potent autophagy inducer, BNIP3, p62 levels were decreased in only the CE group. Conclusion Our findings demonstrate that sIBM induced by CQ treatment results in muscle degeneration via impaired autophagy and that resistance exercise training improves movable loading activity. Finally, regular exercise training may provide protection against sIBM by enhancing the autophagy flux through p62 protein. PMID:26525066

  3. Treatment of Sporadic Acute Puerperal Mastitis

    OpenAIRE

    Hager, W. David; Barton, John R.

    1996-01-01

    Objective: The purposes of this study were to compare the efficacy of amoxicillin and cephradine for the treatment of sporadic acute puerperal mastitis (SAPM) and to evaluate the microbiology and clinical parameters of this infection.

  4. Sporadic wind wave horse-shoe patterns

    OpenAIRE

    S. Yu. Annenkov; Shrira, V. I.

    1999-01-01

    The work considers three-dimensional crescent-shaped patterns often seen on water surface in natural basins and observed in wave tank experiments. The most common of these 'horse-shoe-like' patterns appear to be sporadic, i.e., emerging and disappearing spontaneously even under steady wind conditions. The paper suggests a qualitative model of these structures aimed at explaining their sporadic nature, physical mechanisms of their selection and their specific asymmetric form. First, the phenom...

  5. Effect of sporadic destratification, seasonal overturn and artificial mixing on CH4 emissions at the surface of a subtropical hydroelectric reservoir (Nam Theun 2 Reservoir, Lao PDR

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    F. Guérin

    2015-07-01

    Full Text Available Inland waters in general and specifically freshwater reservoirs are recognized as source of CH4 to the atmosphere. Although the diffusion at the air–water interface is the most studied pathway, its spatial and temporal variations are poorly documented. We measured fortnightly CH4 concentrations and physico-chemical parameters at nine stations in a subtropical monomictic reservoir which was flooded in 2008 (Nam Theun 2 Reservoir, Lao PDR. Based on these results, we quantified CH4 storage in the water column and diffusive fluxes from June 2009 to December 2012. We also compared emissions with aerobic methane oxidation calculated from Deshmukh et al. (2015. In this monomictic reservoir, the seasonal variations of CH4 concentration and storage were highly dependant of the thermal stratification. Hypolimnic CH4 concentration and CH4 storage reached their maximum in the warm dry season (WD when the reservoir was stratified. They decreased during the warm wet (WW season and reached its minimum after the reservoir overturned in the cool dry season (CD. The sharp decreases of the CH4 storage were concomitant with sporadic extreme diffusive fluxes (up to 200 mmol m?2 d?1. These hot moments of emissions occurred mostly in the inflow region in the WW season and during the overturn in the CD season in the area of the reservoir that has the highest CH4 storage. Although they corresponded to less than 10 % of the observations, these CH4 extreme emissions (> 5 mmol m?2 d?1 contributed up to 50 % of total annual emissions by diffusion. Based on our fortnightly monitoring, we determined that accurate estimation of the emissions can be determined from measurements made at least at a monthly frequency. During the transition between the WD and WW seasons, a new hotspot of emissions was identified upstream of the water intake where diffusive fluxes peaked at 600 mmol m?2 d?1 in 2010 down to 200 mmol m?2 d?1 in 2012. In the CD season, diffusive fluxes from this area were the lowest observed at the reservoir surface. Emissions from this area contributed 15–25 % to total annual emissions although they occur on a surface area representative of less than 1 % of the total reservoir surface. We highly recommend measurements of diffusive fluxes around water intakes in order to evaluate if such results can be generalized.

  6. Effect of sporadic destratification, seasonal overturn and artificial mixing on CH4 emissions at the surface of a subtropical hydroelectric reservoir (Nam Theun 2 Reservoir, Lao PDR)

    Science.gov (United States)

    Guérin, F.; Deshmukh, C.; Labat, D.; Pighini, S.; Vongkhamsao, A.; Guédant, P.; Rode, W.; Godon, A.; Chanudet, V.; Descloux, S.; Serça, D.

    2015-07-01

    Inland waters in general and specifically freshwater reservoirs are recognized as source of CH4 to the atmosphere. Although the diffusion at the air-water interface is the most studied pathway, its spatial and temporal variations are poorly documented. We measured fortnightly CH4 concentrations and physico-chemical parameters at nine stations in a subtropical monomictic reservoir which was flooded in 2008 (Nam Theun 2 Reservoir, Lao PDR). Based on these results, we quantified CH4 storage in the water column and diffusive fluxes from June 2009 to December 2012. We also compared emissions with aerobic methane oxidation calculated from Deshmukh et al. (2015). In this monomictic reservoir, the seasonal variations of CH4 concentration and storage were highly dependant of the thermal stratification. Hypolimnic CH4 concentration and CH4 storage reached their maximum in the warm dry season (WD) when the reservoir was stratified. They decreased during the warm wet (WW) season and reached its minimum after the reservoir overturned in the cool dry season (CD). The sharp decreases of the CH4 storage were concomitant with sporadic extreme diffusive fluxes (up to 200 mmol m-2 d-1). These hot moments of emissions occurred mostly in the inflow region in the WW season and during the overturn in the CD season in the area of the reservoir that has the highest CH4 storage. Although they corresponded to less than 10 % of the observations, these CH4 extreme emissions (> 5 mmol m-2 d-1) contributed up to 50 % of total annual emissions by diffusion. Based on our fortnightly monitoring, we determined that accurate estimation of the emissions can be determined from measurements made at least at a monthly frequency. During the transition between the WD and WW seasons, a new hotspot of emissions was identified upstream of the water intake where diffusive fluxes peaked at 600 mmol m-2 d-1 in 2010 down to 200 mmol m-2 d-1 in 2012. In the CD season, diffusive fluxes from this area were the lowest observed at the reservoir surface. Emissions from this area contributed 15-25 % to total annual emissions although they occur on a surface area representative of less than 1 % of the total reservoir surface. We highly recommend measurements of diffusive fluxes around water intakes in order to evaluate if such results can be generalized.

  7. Antigliadin antibody in sporadic adult ataxia

    Directory of Open Access Journals (Sweden)

    Mahdi Aloosh

    2012-09-01

    Full Text Available Background: The most common neurologic manifestationof gluten sensitivity is ataxia, which accounts for up to 40%of idiopathic sporadic ataxia. Timing of diagnosis of glutenataxia is vital as it is one of the very few treatable causes ofsporadic ataxia and causes irreversible loss of Purkinje cells.Antigliadin antibody (AGA of the IgG type is the bestmarker for neurological manifestations of gluten sensitivity.This study was conducted to measure the prevalence ofgluten ataxia in a group of Iranian patients with idiopathicataxia.Methods: For 30 patients with idiopathic cerebellar ataxia, aquestionnaire about clinical and demographic data wascompleted. Serum AGA (IgA and IgG and antiendomysialantibody (AEA were assessed. Gluten ataxic patientsunderwent duodenal biopsy. Magnetic resonanceimaging was done for all patients to see if cerebellaratrophy is present.Results: Only 2 patients had a positive IgG AGA (6.7%who both had a positive AEA while none of themshowed changes of celiac disease in their duodenalbiopsies. Only presence of gastrointestinal symptomsand pursuit eye movement disorders were higher inpatients with gluten ataxia.Conclusion: Prevalence of gluten ataxia in Iranianpatients with idiopathic ataxia seems to be lower thanmost of other regions. This could be explained by smallsample size, differences in genetics and nutritionalhabits and also effect of serologic tests in clinical versusresearch setting. Further researches with larger samplesize are recommended.

  8. Synchrony in Metapopulations with Sporadic Dispersal

    Science.gov (United States)

    Jeter, Russell; Belykh, Igor

    2015-06-01

    We study synchronization in ecological networks under the realistic assumption that the coupling among the patches is sporadic/stochastic and due to rare and short-term meteorological conditions. Each patch is described by a tritrophic food chain model, representing the producer, consumer, and predator. If all three species can migrate, we rigorously prove that the network can synchronize as long as the migration occurs frequently, i.e. fast compared to the period of the ecological cycle, even though the network is disconnected most of the time. In the case where only the top trophic level (i.e. the predator) can migrate, we reveal an unexpected range of intermediate switching frequencies where synchronization becomes stable in a network which switches between two nonsynchronous dynamics. As spatial synchrony increases the danger of extinction, this counterintuitive effect of synchrony emerging from slower switching dispersal can be destructive for overall metapopulation persistence, presumably expected from switching between two dynamics which are unfavorable to extinction.

  9. Unique case of sporadic multiple gastro intestinal stromal tumour

    Directory of Open Access Journals (Sweden)

    Luigina Graziosi

    2015-01-01

    Conclusion: We are presenting a sporadic and exemplary case of 42 multiple GISTs in a young female patient localized trough out all the gastrointestinal tract. This is the only case of sporadic multiple GISTs reported in literature.

  10. MET Expression in Sporadic Renal Cell Carcinomas

    OpenAIRE

    Choi, Jong Sun; Kim, Mi-Kyung; Seo, Jin Won; CHOI, YOON-LA; Kim, Dong Hoon; Chun, Yi Kyeong; Ko, Young Hyeh

    2006-01-01

    Although germline mutations of met proto-oncogene on human chromosome 7q31-34 have been known as useful molecular markers of hereditary papillary renal cell carcinoma (RCC), the expression of MET, a product of met proto-oncogene, has not been fully studied in sporadic RCC, along with its clinical significance. We investigated the expression of MET by immunohistochemistry in 182 cases of renal neoplasm encompassing 145 RCC, 25 urothelial carcinomas of renal pelvis, and 12 oncocytomas. MET was ...

  11. Sungrazing dust particles against the sporadic meteor background

    Science.gov (United States)

    Golubaev, A. V.

    2015-07-01

    From the results of the statistical study, the genetic relation between some meteors (from -5 m to +5 m ) of the sporadic background and the comets of the Kreutz, Marsden, and Kracht families has been revealed. The radiants of sporadic meteors are concentrated at the geocentric ecliptic latitudes 7°-10° northward and southward of the ecliptic. The radiants of the sungrazing meteoroids, that were detected on their heliocentric orbits "before" and "after" the perihelion passage, are concentrated in the elongation intervals of approximately 120°-165° and 20°-60° from the Sun, respectively. Each of the specified radiant regions, in its turn, breaks up into two groups. The group of radiants with elongations of about 30° and 155° from the Sun belongs to the Marsden and Kracht cometary families, while the group with 50° and 135°, to the Kreutz cometary family. In the distribution by perihelion distance, a sharp decrease of the number of observed dust particles with q < 0.08 AU was found. This corresponds to the heliocentric distances (20-30 R ?), where the production of microscopic dust due to sublimation of cometary nuclei, while approaching the Sun, terminates. The number of sporadic sungrazing meteoroids detected after their passage in the vicinity of the Sun is approximately 20 times smaller than the number of similar particles in the preperihelion part of the trajectory. This result is of special importance for studying the thermodesorption effect of meteoroids (i.e., the change in the content of chemical elements in meteoroids as a function of the perihelion distance).

  12. The genetics of radiation-induced and sporadic osteosarcoma: a unifying theory?

    International Nuclear Information System (INIS)

    Cancer is a disease of the genome, with the neoplastic phenotype being passed from one cell generation to the other. Radiation-induced cancer has often been considered to represent a unique entity amongst neoplasia, with the energy deposition being held responsible for both direct (gene mutations) and indirect (bystander effects, induced instability etc) alterations to the cellular genome. However, radiogenic tumours in man and experimental animals appear to be physiologically and genetically indistinguishable from their sporadic counterparts, suggesting that the aetiologies of these two tumour types are in fact closely related. We have conducted a general screen of the genetic alterations in radiation-induced mouse osteosarcoma, a tumour that is histopathologically indistinguishable from human sporadic osteosarcoma. Comparison of the two tumour types indicates the existence of a common set of genetic changes, providing additional evidence to support the concept that the molecular pathology of radiation-induced malignancy is no different to that of sporadic cancers. (author)

  13. Census of the complex hyperbolic sporadic triangle groups

    OpenAIRE

    Deraux, Martin; Parker, John; Paupert, Julien

    2011-01-01

    The goal of this paper is to give a conjectural census of complex hyperbolic sporadic triangle groups. We prove that only finitely many of these sporadic groups are lattices. We also give a conjectural list of all lattices among sporadic groups, and for each group in the list we give a conjectural group presentation, as well as a list of cusps and generators for their stabilizers. We describe strong evidence for these conjectural statements, showing that their validity depends on the solution...

  14. Method for identifying patients with sporadic burkitt's lymphoma, identification method and use of compounds for the treatment of sporadic burkitt's lymphoma

    OpenAIRE

    Campanero García, Miguel Ramón; Molina Privado, Irene

    2009-01-01

    The invention relates to a method for the effective diagnosis of patients with sporadic Burkitt's lymphoma, based on identifying protein E2F1 in biological samples from said patients, which can be performed by RT-PCR or western blot. In addition, E2F1 has been shown to play an etiopathogenic role in the aforementioned disease and, as such, E2F1-specific RNAi can be used to treat said patients.

  15. Sporadic aurorae observed in East Asia

    Science.gov (United States)

    Willis, D. M.; Stephenson, F. R.; Fang, Huiping

    2007-03-01

    All the accessible auroral observations recorded in Chinese and Japanese histories during the interval AD 1840-1911 are investigated in detail. Most of these auroral records have never been translated into a Western language before. The East Asian auroral reports provide information on the date and approximate location of each auroral observation, together with limited scientific information on the characteristics of the auroral luminosity such as colour, duration, extent, position in the sky and approximate time of occurrence. The full translations of the original Chinese and Japanese auroral records are presented in an appendix, which contains bibliographic details of the various historical sources. (There are no known reliable Korean observations during this interval.) A second appendix discusses a few implausible "auroral" records, which have been rejected. The salient scientific properties of all exactly dated and reliable East Asian auroral observations in the interval AD 1840-1911 are summarised succinctly. By comparing the relevant scientific information on exactly dated auroral observations with the lists of great geomagnetic storms compiled by the Royal Greenwich Observatory, and also the tabulated values of the Ak (Helsinki) and aa (Greenwich and Melbourne) magnetic indices, it is found that 5 of the great geomagnetic storms (aa>150 or Ak>50) during either the second half of the nineteenth century or the first decade of the twentieth century are clearly identified by extensive auroral displays observed in China or Japan. Indeed, two of these great storms produced auroral displays observed in both countries on the same night. Conversely, at least 29 (69%) of the 42 Chinese and Japanese auroral observations occurred at times of weak-to-moderate geomagnetic activity (aa or Ak?50). It is shown that these latter auroral displays are very similar to the more numerous (about 50) examples of sporadic aurorae observed in the United States during the interval AD 1880-1940. The localised nature and spatial structure of some sporadic aurorae observed in East Asia is indicated by the use of descriptive terms such as "lightning", "rainbow", "streak" and "grid".

  16. Sporadic aurorae observed in East Asia

    Directory of Open Access Journals (Sweden)

    D. M. Willis

    2007-03-01

    Full Text Available All the accessible auroral observations recorded in Chinese and Japanese histories during the interval AD 1840–1911 are investigated in detail. Most of these auroral records have never been translated into a Western language before. The East Asian auroral reports provide information on the date and approximate location of each auroral observation, together with limited scientific information on the characteristics of the auroral luminosity such as colour, duration, extent, position in the sky and approximate time of occurrence. The full translations of the original Chinese and Japanese auroral records are presented in an appendix, which contains bibliographic details of the various historical sources. (There are no known reliable Korean observations during this interval. A second appendix discusses a few implausible "auroral" records, which have been rejected. The salient scientific properties of all exactly dated and reliable East Asian auroral observations in the interval AD 1840–1911 are summarised succinctly. By comparing the relevant scientific information on exactly dated auroral observations with the lists of great geomagnetic storms compiled by the Royal Greenwich Observatory, and also the tabulated values of the Ak (Helsinki and aa (Greenwich and Melbourne magnetic indices, it is found that 5 of the great geomagnetic storms (aa>150 or Ak>50 during either the second half of the nineteenth century or the first decade of the twentieth century are clearly identified by extensive auroral displays observed in China or Japan. Indeed, two of these great storms produced auroral displays observed in both countries on the same night. Conversely, at least 29 (69% of the 42 Chinese and Japanese auroral observations occurred at times of weak-to-moderate geomagnetic activity (aa or Ak?50. It is shown that these latter auroral displays are very similar to the more numerous (about 50 examples of sporadic aurorae observed in the United States during the interval AD 1880–1940. The localised nature and spatial structure of some sporadic aurorae observed in East Asia is indicated by the use of descriptive terms such as "lightning", "rainbow", "streak" and "grid".

  17. Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers

    DEFF Research Database (Denmark)

    Halvarsson, Britta; Anderson, Harald; Domanska, Katarina; Lindmark, Gudrun; Nilbert, Mef

    2008-01-01

    Identification of sporadic mismatch repair (MMR)-defective colon cancers is increasingly demanded for decisions on adjuvant therapies. We evaluated clinicopathologic factors for the identification of these prognostically favorable tumors. Histopathologic features in 238 consecutive colon cancers were linked to MMR status based on immunostaining and BRAF mutation status.MMR defects were identified in 22.7% of the tumors, with 46 classified as sporadic. When the clinical parameters of age, sex, an...

  18. Sporadic hemangioblastomas are characterized by cryptic VHL inactivation

    OpenAIRE

    Shankar, Ganesh M.; Taylor-Weiner, Amaro; Lelic, Nina; Jones, Robert T.; Kim, James C.; Francis, Joshua M.; Abedalthagafi, Malak; Borges, Lawrence F; Coumans, Jean-Valery; Curry, William T.; Nahed, Brian V.; Shin, John H; Paek, Sun Ha; Park, Sung-Hye; Stewart, Chip

    2014-01-01

    Hemangioblastomas consist of 10-20% neoplastic “stromal” cells within a vascular tumor cell mass of reactive pericytes, endothelium and lymphocytes. Familial cases of central nervous system hemangioblastoma uniformly result from mutations in the Von Hippel-Lindau (VHL) gene. In contrast, inactivation of VHL has been previously observed in only a minority of sporadic hemangioblastomas, suggesting an alternative genetic etiology. We performed deep-coverage DNA sequencing on 32 sporadic hemangio...

  19. Stream and sporadic meteoroids associated with Near Earth Objects

    OpenAIRE

    Jopek, Tadeusz J.; Williams, Iwan P.

    2014-01-01

    NEOs come close to the Earth's orbit so that any dust ejected from them, might be seen as a meteor shower. Orbits evolve rapidly, so that a similarity of orbits at one given time is not suffcient to prove a relationship, orbital evolution over a long time interval also has to be similar. Sporadic meteoroids can not be associated with a single parent body, they can only be classified as cometary or asteroidal. However, by considering one parameter criteria, many sporadics are...

  20. Quantifying Location Privacy: The Case of Sporadic Location Exposure

    OpenAIRE

    Shokri, Reza; Theodorakopoulos, Georgios; Danezis, George; Hubaux, Jean-Pierre; Le Boudec, Jean-Yves

    2011-01-01

    Mobile users expose their location to potentially untrusted entities by using location-based services. Based on the frequency of location exposure in these applications, we divide them into two main types: Continuous and Sporadic. These two location exposure types lead to different threats. For example, in the continuous case, the adversary can track users over time and space, whereas in the sporadic case, his focus is more on localizing users at certain points in time. We propose a systemati...

  1. Sporadic-E associated with the Leonid meteor shower event of November 1998 over low and equatorial latitudes

    Directory of Open Access Journals (Sweden)

    H. Chandra

    Full Text Available Rapid radio soundings were made over Ahmedabad, a low latitude station during the period 16–20 November 1998 to study the sporadic-E layer associated with the Leonid shower activity using the KEL Aerospace digital ionosonde. Hourly ionograms for the period 11 November to 24 November were also examined during the years from 1994 to 1998. A distinct increase in sporadic-E layer occurrence is noticed on 17, 18 and 19 November from 1996 to 1998. The diurnal variations 
    of  f0Es and fbEs also show significantly enhanced values for the morning hours of 18 and 19 November 1998. The ionograms clearly show strong sporadic-E reflections at times of peak shower activity with multiple traces in the altitude range of 100–140 km in few ionograms. Sporadic-E layers with multiple structures in altitude are also seen in some of the ionograms (quarter hourly at Thumba, situated near the magnetic equator. Few of ionograms recorded at Kodaikanal, another equatorial station, also show sporadic- E reflections in spite of the transmitter power being significantly lower. These new results highlighting the effect of intense meteor showers in the equatorial and low latitude E-region are presented.

    Key words. Ionosphere (equatorial ionosphere – Radio science (ionospheric physics

  2. Variation of sporadic meteor background and solar activity

    Science.gov (United States)

    Porub?an, V.; Zigo, P.; Bu?ek, M.; Cevolani, G.; Trivellone, G.

    2011-05-01

    Observations of the sporadic background meteors in 1996-2007 by the Bologna-Lecce-Modra forward-scatter radio system operating along two baselines are analyzed and discussed. The activity curves of sporadic meteor echoes and their variations indicate a direct correlation with the solar activity represented by the sunspot relative number R , as well as with the solar coronal index CI . The mass distribution exponents and its variations in the period of the 23rd solar cycle indicate a relatively stable population of the sporadic background meteoroid population in the surroundings of the Earth's orbit. Investigation of meteor heights compiled from the IAU MDC catalogue of precise photographic orbits for a period of five solar cycles do not exhibit any pronounced variation consistent with the solar cycle activity.

  3. Molecular profile and copy number analysis of sporadic colorectal cancer in Taiwan

    Directory of Open Access Journals (Sweden)

    Li Ling-Hui

    2011-06-01

    Full Text Available Abstract Background Colorectal cancer (CRC is a major health concern worldwide, and recently becomes the most common cancer in Asia. The case collection of this study is one of the largest sets of CRC in Asia, and serves as representative data for investigating genomic differences between ethnic populations. We took comprehensive and high-resolution approaches to compare the clinicopathologic and genomic profiles of microsatellite instability (MSI vs. microsatellite stability (MSS in Taiwanese sporadic CRCs. Methods 1,173 CRC tumors were collected from the Taiwan population, and sequencing-based microsatellite typing assay was used to determine MSI and MSS. Genome-wide SNP array was used to detect CN alterations in 16 MSI-H and 13 MSS CRCs and CN variations in 424 general controls. Gene expression array was used to evaluate the effects of CN alterations, and quantitative PCR methods were used to replicate the findings in independent clinical samples. Results These 1,173 CRC tumors can be classified into 75 high-frequency MSI (MSI-H (6.4%, 96 low-frequency MSI (8.2% and 1,002 MSS (85.4%. Of the 75 MSI-H tumors, 22 had a BRAF mutation and 51 showed MLH1 promoter hypermethylation. There were distinctive differences in the extent of CN alterations between CRC MSS and MSI-H subtypes (300 Mb vs. 42 Mb per genome, p-value Conclusions Sporadic CRCs with MSI-H displayed distinguishable clinicopathologic features, which differ from those of MSS. Genomic profiling of the two types of sporadic CRCs revealed significant differences in the extent and distribution of CN alterations in the cancer genome. More than half of expressed genes showing CN differences can directly contribute to their expressional diversities, and the biological functions of the genes associated with CN changes in sporadic CRCs warrant further investigation to establish their possible clinical implications.

  4. Molecular and Survival Differences between Familial and Sporadic Gastric Cancers

    OpenAIRE

    Wen-Liang Fang; Shih-Ching Chang; Yuan-Tzu Lan; Kuo-Hung Huang; Su-Shun Lo; Anna Fen-Yau Li; Chin-Wen Chi; Chew-Wun Wu; Shih-Hwa Chiou

    2013-01-01

    Mismatch repair (MMR) and germline E-cadherin (CDH1) mutations are two of the major pathways of carcinogenesis in familial gastric cancer (GC). A total of 260 sporadic and 66 familial GC patients were enrolled and molecular and survival differences were compared. Familial GC patients had earlier onset and were diagnosed at an earlier stage and had both a better 5-year overall survival rate and 3-year disease-free survival rate compared with sporadic GC patients. Only in diffuse type GC, the M...

  5. Stream and sporadic meteoroids associated with Near Earth Objects

    Science.gov (United States)

    Jopek, Tadeusz J.; Williams, Iwan P.

    2015-03-01

    NEOs come close to the Earth's orbit so that any dust ejected from them, might be seen as a meteor shower. Orbits evolve rapidly, so that a similarity of orbits at one given time is not sufficient to prove a relationship, orbital evolution over a long time interval also has to be similar. Sporadic meteoroids can not be associated with a single parent body, they can only be classified as cometary or asteroidal. However, by considering one parameter criteria, many sporadics are not classified properly therefore two parameter approach was proposed.

  6. ?-Catenin Mutation Status and Outcomes in Sporadic Desmoid Tumors

    OpenAIRE

    Mullen, John T; Delaney, Thomas F.; Rosenberg, Andrew E.; Le, Long; Iafrate, A John; Kobayashi, Wendy; Szymonifka, Jackie; Yeap, Beow Y; Chen, Yen-Lin; Harmon, David C.; Choy, Edwin; Yoon, Sam S.; Raskin, Kevin A; Hornicek, Francis J.; Nielsen, Gunnlauger P.

    2013-01-01

    Mutations in the gene-encoding ?-catenin, CTNNB1, are highly prevalent in sporadic desmoid tumors and may predict the risk for recurrence. We sought to determine the prevalence of CTNNB1 mutations and to determine whether the CTNNB1 mutation status correlates with disease outcome.

  7. Studies in sporadic inclusion body myositis

    OpenAIRE

    Arnardóttir, Snjólaug

    2003-01-01

    Aims: The general aims of the present study were to increase the understanding of the disease process in s-lBM by analysing the cytoskeletal structure in muscle fibres and their regeneration potential; and also to evaluate sensory function in patients with s-IBM to test the hypothesis of an associated neurogenic component or a concomitant neuropathy in s-IBM; and to evaluate therapeutic options by analysing the effect of IVIg treatment on the muscle inflammation; and to e...

  8. A possible case of Sporadic Aurora in 1843 from Mexico

    Scientific Electronic Library Online (English)

    José Manuel, Vaquero; María Cruz, Gallego; Fernando, Domínguez-Castro.

    2013-03-01

    Full Text Available Recientemente, algunos autores han mostrado que algunas auroras pueden ser observadas a latitudes relativamente bajas cuando la actividad geomagnética es baja o moderada. Este tipo tan especial de aurora recibe el nombre de "aurora esporádica". Presentamos y analizamos en este trabajo un posible cas [...] o de "aurora esporádica" observada desde México el 19 de abril de 1843. Además, estudiamos la actividad solar y auroral alrededor de este evento. Abstract in english In recent years, some authors have shown that some auroras can be observed at relatively low latitude when the geomagnetic activity is quiet or moderate. This very special type of aurora is called "sporadic aurora". We present and analyze in this work a possible case of "sporadic aurora" observed in [...] Mexico on the 19 April 1843. Moreover, we study the solar and auroral activity around this event.

  9. On permanent and sporadic pulsations of the magnetosphere

    Science.gov (United States)

    Guglielmi, A. V.

    2015-05-01

    A question concerning the influence of permanent Pc3-band pulsations (periods from 10 to 45 s) on the excitation of sporadic Pi2-band pulsations (40 to 150 s) is raised. It is hypothesized that, being generated ahead of the front of the Earth's magnetosphere, the Pc3 penetrate into the geomagnetic tail where they cause local depression in the electric current in the neutral sheet and, under favorable conditions, initiate tearing instability. This leads to the reconnection of the magnetic field lines and explosion-like release of the magnetic energy stored in the tail. As a result, a substorm arises with the sporadic Pi2 pulsations being its important element. Ways are suggested to theoretically substantiate and experimentally validate this hypothesis.

  10. Clinical Perspective of Oxidative Stress in Sporadic ALS

    OpenAIRE

    D’Amico, Emanuele; FACTOR-LITVAK, PAM; Santella, Regina M.; MITSUMOTO, HIROSHI

    2013-01-01

    Sporadic amyotrophic lateral sclerosis (sALS) is one of the most devastating neurological diseases; most patients die within 3 to 4 years after symptom onset. Oxidative stress is a disturbance in the pro-oxidative/anti-oxidative balance favoring the pro-oxidative state. Autopsy and laboratory studies in ALS indicate that oxidative stress plays a major role in motor neuron degeneration and astrocyte dysfunction. Oxidative stress biomarkers in cerebrospinal fluid, plasma, and urine, are elevate...

  11. Double localization of a unilateral sporadic vestibular schwannoma

    OpenAIRE

    Barbara, M.; Ronchetti, F.; Manni, V.; Monini, S.

    2008-01-01

    Vestibular schwannoma may present as a sporadic or genetically-based multi-localized benign neoplasm of the internal auditory canal and/or cerebello-pontine angle region. Multiple localization is generally regarded as genetic in origin and often affects the stato-acoustic bundle on both sides. A case of double vestibular schwannoma localized on the same stato-acoustic bundle is presented. After removal, slight histological differences were found between the two separate masses. From these fin...

  12. Dietary factors and Truncating APC Mutations in Sporadic Colorectal Adenomas

    OpenAIRE

    Diergaarde, B.; Tiemersma, E.W.; Braam, H.; Muijen, G.N.P. van; Nagengast, F.M.; Kok, F.J.; Kampman, E

    2005-01-01

    Inactivating mutations in APC are thought to be early, initiating events in colorectal carcinogenesis. To gain insight into the relationship between diet and inactivating APC mutations, we evaluated associations between dietary factors and the occurrence of these mutations in a Dutch case-control study of sporadic colorectal adenomas (278 cases; 414 polyp-free controls). Direct-sequencing was used to screen adenomas for mutations in the mutation cluster region of APC; truncating mutations wer...

  13. Biological and genetic markers of sporadic Alzheimer's disease.

    OpenAIRE

    Engelborghs S; De Deyn PP

    2001-01-01

    With the development of new treatments, there is an increasing need for early diagnosis of sporadic Alzheimer's disease. Therefore, biological markers allowing positive diagnosis early in the course of the disease are highly desirable. Cerebrospinal fluid levels of protein tau were shown to be significantly increased in patients with Alzheimer's disease. Although sensitivity is high, poor specificity limits the diagnostic value of this marker. The same is true for the 42 amino acid isoform of...

  14. Screening of hypoxia-inducible genes in sporadic ALS.

    LENUS (Irish Health Repository)

    Cronin, Simon

    2008-10-01

    Genetic variations in two hypoxia-inducible angiogenic genes, VEGF and ANG, have been linked with sporadic amyotrophic lateral sclerosis (SALS). Common variations in these genes may reduce the levels or functioning of their products. VEGF and ANG belong to a larger group of angiogenic genes that are up-regulated under hypoxic conditions. We hypothesized that common genetic variation across other members of this group may also predispose to sporadic ALS. To screen other hypoxia-inducible angiogenic genes for association with SALS, we selected 112 tagging single nucleotide polymorphisms (tgSNPs) that captured the common genetic variation across 16 VEGF-like and eight ANG-like hypoxia-inducible genes. Screening for association was performed in 270 Irish individuals with typical SALS and 272 ethnically matched unrelated controls. SNPs showing association in the Irish phase were genotyped in a replication sample of 281 Swedish sporadic ALS patients and 286 Swedish controls. Seven markers showed association in the Irish. The one modest replication signal observed in the Swedish replication sample, at rs3801158 in the gene inhibin beta A, was for the opposite allele vs. the Irish cohort. We failed to detect association of common variation across 24 candidate hypoxia-inducible angiogenic genes with SALS.

  15. Cervical dystonia: about familial and sporadic cases in 88 patients

    Directory of Open Access Journals (Sweden)

    Carlos Henrique F. Camargo

    2014-02-01

    Full Text Available Cervical dystonia (CD affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic. Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001. The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01. Generalized cases were more severe in patients with a family history (p<0.01. Sporadic patients had higher levels of pain than familial cases (p<0.05. We expect soon to present the results of genetic analyzes of these patients.

  16. Multiple filarial species microfilaraemia: a comparative study of areas with endemic and sporadic onchocerciasis

    Directory of Open Access Journals (Sweden)

    Emmanuel Uttah & Dominic C. Ibeh

    2011-12-01

    Full Text Available Background & objectives: The study was aimed at determining the pattern of co-occurrence of species ofmicrofilaraemia between onchocerciasis endemic and sporadic populations.Methods: From every consenting person of one year and above, 50 ?l of day and night blood samples werecollected and processed respectively with Haemotoxylin and Giemsa as vital stains. Two skin snips (one eachfrom the waist and the shoulder were also taken from these individuals and processed.Results: Results showed single species microfilaraemia (86.4 and 82.3%, double species microfilaraemia (12.2and 16.9% and triple species microfilaraemia (1.4 and 0.7% for endemic and sporadic populations respectively.All the species had single species microfilaraemia mostly, but Mansonella perstans and Loa loa showed greatestt endency towa rds doubl e and t r ipl e spe c i e s mi c rof i l a r a emi a . The pr eva l enc e of Wuche re r ia banc rof t imicrofilaraemia among those positive for Onchocerca volvulus was significantly lower than the overall prevalenceof Wuchereria bancrofti. Wuchereria bancrofti microfilaraemia was most common among those who had L. loamicrofilaraemia. Wuchereria bancrofti microfilarial intensity was higher among those with M. perstansmicrofilaraemia than among those positive for any of the other filarial species. Similarly, the intensity of M.perstans microfilaraemia among those positive for W. bancrofti exceeded the overall intensity of M. perstans.Conclusion: It is concluded that there was no definite pattern in mf densities discernible from co-occurrenceinfections either in the onchocerciasis endemic or sporadic population. There could be varied outcomes ofonchocerciasis infection attributable to positive or negative regulatory effects of other pathogens harbored bythe victims.

  17. Sporadic impact flashes on the Moon and their implications

    Science.gov (United States)

    Trigo-Rodriguez, J. M.; Ortiz, J. L.; Llorca, J.; Santos-Sanz, P.

    The systematic impact flash survey that we carried out between 2001 and 2004 resulted in the first unambiguous detection of lunar sporadic impact flashes (Ortiz et al., 2006) and already allowed us to estimate the impact rate of objects on Earth as a function of their incoming energy under the assumption of a certain range of luminous efficiencies of the impact processes. Some present unknown parameters can be constrained in the future by monitoring impact flashes associated with meteoroid streams exhibiting a wide range of impact angles and energies. Here we further investigate some implications of the sporadic impact flashes detected so far and in particular we focus on whether the SMART-1 impact flash can give additional constraints on the luminous efficiency applicable to sporadic impacts, in order to derive more accurate impact rates on Earth. We have compared our derived impact fluxes with those obtained by Ceplecha (2001) and Brown et al. (2002) and we conclude that the present flux in the observed energy range would be underestimated. Finally, we conclude that the large lunar surface coverage and increasing sensitivity of modern video cameras makes this a powerful method to estimate terrestrial impact rates of large bodies that are statistically difficult to be detected from more limited atmospheric coverages characteristic of terrestrial networks. REFERENCES Brown, P., Spalding, R. E., Revelle, D. O., Tagliaferri, E., Worden, S. P. 2002. The flux of small near-Earth objects colliding with the Earth. Nature 420, 294-296. Ceplecha Z. (2001) in Collisional processes in the solar system, eds. Mikhail Ya. Marov and Hans Rickman, Astrophysics and Space Science library, Vol. 261, Dordrecht, Kluwer Academic Publishers, 35 - 50. Ortiz J.L., F.J. Aceituno, J.A. Quesada, J. Aceituno, M. Fernández, P. Santos-Sanz, J.M. Trigo-Rodríguez, J. Llorca, F.J. Martín-Torres, P. Montañés-Rodríguez, E. Pallé (2006) Icarus, in press.

  18. Application of quantitative DTI metrics in sporadic CJD

    Directory of Open Access Journals (Sweden)

    E. Caverzasi

    2014-01-01

    Full Text Available Diffusion Weighted Imaging is extremely important for the diagnosis of probable sporadic Jakob–Creutzfeldt disease, the most common human prion disease. Although visual assessment of DWI MRI is critical diagnostically, a more objective, quantifiable approach might more precisely identify the precise pattern of brain involvement. Furthermore, a quantitative, systematic tracking of MRI changes occurring over time might provide insights regarding the underlying histopathological mechanisms of human prion disease and provide information useful for clinical trials. The purposes of this study were: 1 to describe quantitatively the average cross-sectional pattern of reduced mean diffusivity, fractional anisotropy, atrophy and T1 relaxation in the gray matter (GM in sporadic Jakob–Creutzfeldt disease, 2 to study changes in mean diffusivity and atrophy over time and 3 to explore their relationship with clinical scales. Twenty-six sporadic Jakob–Creutzfeldt disease and nine control subjects had MRIs on the same scanner; seven sCJD subjects had a second scan after approximately two months. Cortical and subcortical gray matter regions were parcellated with Freesurfer. Average cortical thickness (or subcortical volume, T1-relaxiation and mean diffusivity from co-registered diffusion maps were calculated in each region for each subject. Quantitatively on cross-sectional analysis, certain brain regions were preferentially affected by reduced mean diffusivity (parietal, temporal lobes, posterior cingulate, thalamus and deep nuclei, but with relative sparing of the frontal and occipital lobes. Serial imaging, surprisingly showed that mean diffusivity did not have a linear or unidirectional reduction over time, but tended to decrease initially and then reverse and increase towards normalization. Furthermore, there was a strong correlation between worsening of patient clinical function (based on modified Barthel score and increasing mean diffusivity.

  19. INTUSSUSCEPTION IN A CHILD WITH SPORADIC BURKITT LYMPHOMA

    Directory of Open Access Journals (Sweden)

    R. Angotti

    2012-01-01

    Full Text Available Introduction. Burkitt Lymphoma is a high grade lymphoma and it represents 8-10 % of all tumors in children less than 15 years old. There are two forms of Burkitt Lymphoma (BL: endemic and sporadic, that are indistinguishable by histology, but they have got a different geographical distribution. The sporadic form more commonly has an abdominal presentation. About eighty percent of these patients has predominantly intussusceptions. Materials and methods. We report a 5 years old girl with spasmodic abdominal pain who was addimitted in our Clinic. We diagnosed an intussusception by clinical examination and abdominal ultrasound scan. We decided to perform an emergency operation and we found a single pedicle neoformation on the anti-mesenteric wall of ileum, that was the patologic lead point. We reduced the intussusception and we resected the neoformation and a small length of ileum (about 4 cm. We performed a single-layer end-to-end ileo-ileum anastomosis and the appendicectomy. The histopathological examination and the immunohistochemistry study revealed a Burkitt Lymphoma. Results. The patient was dismissed on eighth postoperative day and she was referred to Pediatric Oncology Center for chemotherapy. The child was graded second class (R2 because lymph-nodes sampling was not performed and LDH levels were lower 500 U/l. Conclusions. The mayority of sporadic Burkitt Lymphoma patients presents with abdominal disease that required a laparotomy. The presenting symptoms included: an abdominal mass, intestinal obstruction, intussusceptions as acute abdomen. The role of surgery is very controversial. However, it’s required to confirm the diagnosis in the presence of extensive intrabdominal disease and to relieve the common presenting symptoms in the presence of acute abdomen. Some Authors argue that Surgery is important in the management of the complications.

  20. Pinpointing clusters of apparently sporadic cases of Legionnaires' disease.

    OpenAIRE

    Bhopal, R.S.; Diggle, P; Rowlingson, B.

    1992-01-01

    OBJECTIVES--To test the hypothesis that many non-outbreak cases of legionnaires' disease are not sporadic and to attempt to pinpoint cases clustering in space and time. DESIGN--Descriptive study of a case series, 1978-86. SETTING--15 health boards in Scotland. PATIENTS--203 probable cases of non-outbreak, non-travel, community acquired legionnaires' disease in patients resident in Scotland. MAIN MEASURES--Date of onset of disease and postcode and health board of residence of cases. RESULTS--S...

  1. Emerging therapeutic options for sporadic inclusion body myositis

    Science.gov (United States)

    Alfano, Lindsay N; Lowes, Linda P

    2015-01-01

    Sporadic inclusion body myositis is the most common inflammatory muscle disorder preferentially affecting males over the age of 40 years. Progressive muscle weakness of the finger flexors and quadriceps muscles results in loss of independence with activities of daily living and eventual wheelchair dependence. Initial signs of disease are often overlooked and can lead to mis- or delayed diagnosis. The underlying cause of disease is unknown, and disease progression appears refractory to available treatment options. This review discusses the clinical presentation of inclusion body myositis and the current efforts in diagnosis, and focuses on the current state of research for both nonpharmacological and pharmacological treatment options for this patient group. PMID:26445546

  2. Imaging and clinical characteristics of sporadic Creutzfeldt-Jakob disease

    Directory of Open Access Journals (Sweden)

    HAN Shun-chang

    2013-04-01

    Full Text Available Five patients with sporadic Creutzfeldt-Jakob disease (sCJD presented rapidly progressive dementia which were subacute onset from 1 to 4 months. Among these cases, periodic synchronous discharge (PSD of electroencephalography (EEG was seen in 2 patients. Besides, 4 patients obtained positive results in cerebrospinal fluid (CSF analysis for 14-3-3 protein. The cranial MRI examination showed symmetrical or asymmetrical colored-ribbon-shaped high signals in cerebral cortex or basal ganglia by diffusion weighted imaging (DWI, suggesting that DWI had high sensitivity and specificity for the diagnosis of sCJD as a preferred method in the clinical examination of sCJD.

  3. The monster sporadic group and a theory underlying superstring models

    International Nuclear Information System (INIS)

    The pattern of duality symmetries acting on the states of compactified superstring models reinforces an earlier suggestion that the Monster sporadic group is a hidden symmetry for superstring models. This in turn points to a supersymmetric theory of self-dual and anti-self-dual K3 manifolds joined by Dirac strings and evolving in a 13 dimensional spacetime as the fundamental theory. In addition to the usual graviton and dilaton this theory contains matter-like degrees of freedom resembling the massless states of the heterotic string, thus providing a completely geometric interpretation for ordinary matter. 25 refs

  4. The 'Pokemon' (ZBTB7) Gene: No Evidence of Association with Sporadic Breast Cancer.

    Science.gov (United States)

    Salas, Antonio; Vega, Ana; Milne, Roger L; García-Magariños, Manuel; Ruibal, Alvaro; Benítez, Javier; Carracedo, Angel

    2008-01-01

    It has been proposed that the excess of familiar risk associated with breast cancer could be explained by the cumulative effect of multiple weakly predisposing alleles. The transcriptional repressor FBI1, also known as Pokemon, has recently been identified as a critical factor in oncogenesis. This protein is encoded by the ZBTB7 gene. Here we aimed to determine whether polymorphisms in ZBTB7 are associated with breast cancer risk in a sample of cases and controls collected in hospitals from North and Central Spanish patients. We genotyped 15 SNPs in ZBTB7, including the flanking regions, with an average coverage of 1 SNP/2.4 Kb, in 360 sporadic breast cancer cases and 402 controls. Comparison of allele, genotype and haplotype frequencies between cases and controls did not reveal associations using Pearson's chi-square test and a permutation procedure to correct for multiple test. In this, the first study of the ZBTB7 gene in relation to, sporadic breast cancer, we found no evidence of an association. PMID:21892298

  5. The ‘Pokemon’ (ZBTB7 Gene: No Evidence of Association with Sporadic Breast Cancer

    Directory of Open Access Journals (Sweden)

    Antonio Salas

    2008-01-01

    Full Text Available It has been proposed that the excess of familiar risk associated with breast cancer could be explained by the cumulative effect of multiple weakly predisposing alleles. The transcriptional repressor FBI1, also known as Pokemon, has recently been identi?ed as a critical factor in oncogenesis. This protein is encoded by the ZBTB7 gene. Here we aimed to determine whether polymorphisms in ZBTB7 are associated with breast cancer risk in a sample of cases and controls collected in hospitals from North and Central Spanish patients. We genotyped 15 SNPs in ZBTB7, including the ?anking regions, with an average coverage of 1 SNP/2.4 Kb, in 360 sporadic breast cancer cases and 402 controls. Comparison of allele, genotype and haplotype frequencies between cases and controls did not reveal associations using Pearson’s chi-square test and a permutation procedure to correct for multiple test. In this, the ?rst study of the ZBTB7 gene in relation to, sporadic breast cancer, we found no evidence of an association.

  6. Complexity Induced Sporadic Localized Multifractal Antiscreening in Gravitational Evolution at Large Scales

    CERN Document Server

    Chang, Tom T S

    2015-01-01

    It has been suggested that antiscreening effects due to the running of the gravitational constant G might provide a partial solution to the dark matter mystery. It has also been hypothesized that renormalization group scaling transformations at large scales might supply the theoretical explanation. In this letter, we demonstrate that multifractal coarse-graining scaling effects due to classical fluctuations in the IR with consecutive symmetry breakings in gravitational evolution and induced running of the gravitational constant with fractal structures at larger scales may provide the plausible explanation of the observed results of weak lensing observations and beyond. The sporadic and localized antiscreening due to the running of the gravitational constant can also provide the backbone for the cosmic evolution and large scale structure formation. Our interpretation of this interesting finding is that such effects are the result of the complexity phenomenon involving the evolution of large-scale multifractal ...

  7. On Permanent and Sporadic Oscillations of the Magnetosphere

    CERN Document Server

    Guglielmi, A V

    2014-01-01

    In this paper we investigate the impact of permanent oscillations Pc3 on the excitation of sporadic oscillations Pi2 ( their periods are 10-45 and 40-150 s, respectively ). The hypothesis is formulated that Pc3 oscillations originating in front of the magnetosphere penetrate into the geomagnetic tail, cause a local depression in the current in the neutral sheet, and under favorable conditions stimulate a tearing instability. This leads to reconnection of magnetic field lines and an explosive release of magnetic energy stored in the tail. As a result, a substorm breaks up, with sporadic pulsations Pi2 as an important element of this process. It is expected from theoretical estimates and kinematic considerations that the higher the Pc3 frequency, the earlier the Pi2 trains start. We test this prediction using observational data from satellite measurements of the interplanetary magnetic field and on-ground magnetic measurements. The results confirm the theoretical expectation. Additional routes are proposed to t...

  8. CLINICAL ASPECTS AND THERAPY OF SPORADIC BURKITT LYMPHOMA

    Directory of Open Access Journals (Sweden)

    Luana Fianchi

    2009-11-01

    Full Text Available

    Burkitt’s lymphoma is a highly aggressive mature B-cell neoplasm consisting of endemic, sporadic, and immunodeficiency-associated variants, that share many morphologic and immunophenotypic features. It is characterized by a high proliferation rate and propensity for extranodal sites such as gastrointestinal tract and reproductive organs. Brief-duration, high-intensity chemotherapy regimens including aggressive central nervous system prophylaxis have had remarkable success in the treatment of this disease in the sporadic form, with very high complete remission rate and overall survival  in adults. Although Burkitt's lymphoma is extremely chemosensitive, biologically targeted therapies should be developed, because current treatment options are suboptimal for patients with poor prognostic features or with relapsed disease.

  9. Hospital Admissions, Biological Therapy, and Surgery in Familial and Sporadic Cases of Inflammatory Bowel Disease : A Population-Based Cohort Study 1977-2011

    DEFF Research Database (Denmark)

    Trier Moller, Frederik; Andersen, Vibeke

    2015-01-01

    BACKGROUND: Easily accessible predictors of disease course in inflammatory bowel disease (IBD) are scarce, and it remains largely unknown whether a family history of IBD predicts the course of Crohn's disease (CD) and ulcerative colitis (UC). We aimed to compare the course of disease in familial and sporadic cases of IBD in a nationwide cohort study. METHODS: From national registries, covering a population of 8,295,773 individuals, we obtained information on date and year of diagnosis of IBD cases, gender, age, and family ties. Using Cox regression, we estimated hazard ratios for IBD-related hospitalization, biological treatment, and surgery in familial versus sporadic cases of IBD. RESULTS: A total of 27,886 IBD cases, including 1006 IBD-relative pairs, were followed-up for up to 16 years, totaling 164,979 person-years. We observed no difference in risk of hospital admissions between familial and sporadic cases of IBD. However, patients with familial CD had significantly higher risk of major surgery than sporadic CD cases after 2 years of disease duration (hazard ratio, 1.62; 95% confidence interval, 1.26-2.07). Also, sensitivity analysis suggested a slightly reduced time from diagnosis to first tumor necrosis factor-? inhibitor treatment among familial CD and UC cases as compared with sporadic cases. CONCLUSION: We found only minor differences in surgery rates and tumor necrosis factor exposure, between familial and sporadic cases of IBD. These findings may represent purely social rather than functional effects, which is consoling for newly diagnosed CD or UC patients with a family history of IBD.

  10. Electric field measurements of DC and long wavelength structures associated with sporadic-E layers and QP radar echoes

    Directory of Open Access Journals (Sweden)

    S. Ohtsuki

    2005-10-01

    Full Text Available Electric field and plasma density data gathered on a sounding rocket launched from Uchinoura Space Center, Japan, reveal a complex electrodynamics associated with sporadic-E layers and simultaneous observations of quasi-periodic radar echoes. The electrodynamics are characterized by spatial and temporal variations that differed considerably between the rocket's upleg and downleg traversals of the lower ionosphere. Within the main sporadic-E layer (95–110 km on the upleg, the electric fields were variable, with amplitudes of 2–4 mV/m that changed considerably within altitude intervals of 1–3 km. The identification of polarization electric fields coinciding with plasma density enhancements and/or depletions is not readily apparent. Within this region on the downleg, however, the direction of the electric field revealed a marked change that coincided precisely with the peak of a single, narrow sporadic-E plasma density layer near 102.5 km. This shear was presumably associated with the neutral wind shear responsible for the layer formation. The electric field data above the sporadic-E layer on the upleg, from 110 km to the rocket apogee of 152 km, revealed a continuous train of distinct, large scale, quasi-periodic structures with wavelengths of 10–15 km and wavevectors oriented between the NE-SW quadrants. The electric field structures had typical amplitudes of 3–5 mV/m with one excursion to 9 mV/m, and in a very general sense, were associated with perturbations in the plasma density. The electric field waveforms showed evidence for steepening and/or convergence effects and presumably had mapped upwards along the magnetic field from the sporadic-E region below. Candidate mechanisms to explain the origin of these structures include the Kelvin-Helmholtz instability and the Es-layer instability. In both cases, the same shear that formed the sporadic-E layer would provide the energy to generate the km-scale structures. Other possibilities include gravity waves or a combination of these processes. The data suggest that these structures were associated with the lower altitude density striations that were the seat of the QP radar echoes observed simultaneously. They also appear to have been associated with the mechanism responsible for a well-defined pattern of "whorls" in the neutral wind data that were revealed in a chemical trail released by a second sounding rocket launched 15min later. Short scale (<100 m electric field irregularities were also observed and were strongest in the sporadic-E region below 110km. The irregularities were organized into 2–3 layers on the upleg, where the plasma density also displayed multiple layers, yet were confined to a single layer on the downleg where the plasma density showed a single, well-defined sporadic-E peak. The linear gradient drift instability involving the DC electric field and the vertical plasma gradient is shown to be incapable of driving the observed waves on the upleg, but may have contributed to the growth of short scale waves on the topside of the narrow unstable density gradient observed on the downleg. The data suggest that other sources of free energy may have been important factors for the growth of the short scale irregularities. Keywords. Ionosphere (Mid-latitude ionosphere; Electric fields and currents; Ionospheric irregularities

  11. [Virological and clinical features of patients with sporadic hepatitis C].

    Science.gov (United States)

    Tang, Z; Wang, Y; Yu, Z; Yang, D; Hao, L

    1997-06-01

    In this study, the transmission route in 16 sporadic hepatitis C (SHC) patients was investigated. Three of them were surgeons who had often had occupational needlestick accidents, another 3 had close household contact with their spouses who had been diagnosed as chronic posttransfusion viral hepatitis C (PTHC), and the remaining 5 had potential parenteral exposure such as tooth extraction, injection or inoculation and so on. Five patients with SHC didn't have such history, their transmission route was not determined. Our result showed a lower viremia level in patients with SHC when compared to PTHC patients (the serum dilutions for HCV RNA detection was 10-100 times in the former and 100-10000 times in the latter. PPTHC, the patients with SHC in our study had milder liver demage and lower ALT levels, and most of them (10/16) were symptomless. PMID:15619815

  12. Sporadic faults in regular growth of eutectic composites

    International Nuclear Information System (INIS)

    Structural imperfection of Sn-Pb, Cd-Sn, Cd-Pb, Cd-Zn, Zn-Sn, Cd-Bi, Zn-Bi eutectic compositions are investigated. The method of local X-ray spectrum analysis has been used to determine compositions of normal Csub(eutec)sup(n.c.) colonies corresponding to equal development rates of conjugate phases. For many alloys a deviation from the diagram eutectic concentration Csub(eutec)sup(d) is found. It is shown that sporadic violations of the regular growth of eutectic compositions are caused by the alterations in the composition of a liquid at the front of a two-phase packet. Local violations of eutectic compositions are nodes of branching eutectic phases, which follows from the data of stereometric metallography. The dependence of imperfections density on the crystallization conditions is determined

  13. ERKed by LRRK2: A cell biological perspective on hereditary and sporadic Parkinson’s disease

    Science.gov (United States)

    Verma, Manish; Steer, Erin K.; Chu, Charleen T.

    2014-01-01

    The leucine rich repeat kinase 2 (LRRK2/dardarin) is implicated in autosomal dominant familial and sporadic Parkinson’s disease (PD); mutations in LRRK2 account for up to 40% of PD cases in some populations. LRRK2 is a large protein with a kinase domain, a GTPase domain, and multiple potential protein interaction domains. As such, delineating the functional pathways for LRRK2 and mechanisms by which PD-linked variants contribute to age-related neurodegeneration could result in pharmaceutically tractable therapies. A growing number of recent studies implicate dysregulation of mitogen activated protein kinases 3 and 1 (also known as ERK1/2) as possible downstream mediators of mutant LRRK2 effects. As these master regulators of growth, differentiation, neuronal plasticity and cell survival have also been implicated in other PD models, a set of common cell biological pathways may contribute to neuronal susceptibility in PD. Here, we review the literature on several major cellular pathways impacted by LRRK2 mutations – autophagy, microtubule/cytoskeletal dynamics, and protein synthesis – in context of potential signaling crosstalk involving the ERK1/2 and Wnt signaling pathways. Emerging implications for calcium homeostasis, mitochondrial biology and synaptic dysregulation are discussed in relation to LRRK2 interactions with other PD gene products. It has been shown that substantia nigra neurons in human PD and Lewy body dementia patients exhibit cytoplasmic accumulations of ERK1/2 in mitochondria, autophagosomes and bundles of intracellular fibrils. Both experimental and human tissue data implicate pathogenic changes in ERK1/2 signaling in sporadic, toxin-based and mutant LRRK2 settings, suggesting engagement of common cell biological pathways by divergent PD etiologies. PMID:24225420

  14. Nonlocal theory of long-wavelength plasma waves associated with sporadic E layers

    International Nuclear Information System (INIS)

    In this paper we calculate the nonlocal growth rate of gradient drift plasma waves under conditions where the electron density gradient scale length changes with altitude. The results are compared with the local growth rate and discussed in the context of the kilometer-scale waves which have been observed in the vicinity of mid-latitude sporadic E layers. These large-scale waves drastically violate the local approximation, kL/sub m/>>1, where k is the irregularity wave number and L/sub m/ is the minimum gradient scale length on the edge of a layer. The first step in the analysis is to derive a general eigenmode equation, starting with the same assumptions usually used in the derivation of the local dispersion relation for long wavelength waves. Modeling a sporadic E layer as a slab, the nonlocal growth rate spectrum is found by solving the eigenmode equation for this profile. The solution is an algebraic dispersion relation with a growth rate spectrum which is roughly proportional to k, rather than the k2 dependence predicted by conventional local theory at long wavelengths. At short wavelengths the nonlocal growth rate determined with the slab is unbounded, in disagreement with local theory. The slab is an inadequate model for short wavelength waves and a bound on the growth rate is instead derived from a theory which can be applied to any realistic profile with nonzero L/sub m/. At short wavelengths this bound is identical to the local growth rate expression, while at long wavelengths the bound remains proportional to k and thus is consistent with the dispersion relation for a slab. Nonlocal effects alone do not explain the dominance of kilometer scales, but they do tend to favor the excitation of long wavelengths

  15. Radiosurgical treatment of sporadic vestibular schwannomas: A prospective cohort study

    International Nuclear Information System (INIS)

    Objective: To analyze the preliminary experience of radiosurgery for Vestibular Schwannomas at the Pontificia Universidad Catolica de Chile. Material and methods: The first 17 patients with sporadic Vestibular Schwannomas treated by radiosurgery at our institution are reported. The marginal dose used was 12 to 12.5 Gy. prescribed at the 70 or 80 isodose fine. Patients were controlled at 6, 12 and 24 months with magnetic resonance, audiometric study and clinical examination. Results: In all of the 17 patients treated a decrease tumor enhancement on MR was demonstrated. In 16 patients (94%) a pattern of central tumor necrosis was observed during the firs year Actuarial useful hearing was maintained in 62.5% at 2 year after treatment. Facial nerve function was maintained in all of the 15 patients with normal function at treatment (100%). Trigeminal function was maintained in ah of the 14 patients (100%) with previous normal trigeminal function. The mean time to return to work or normal activities was 11.5 days after treatment. Conclusions: These preliminary results are comparable with results published in the literature and reinforce the demonstrate role of radiosurgery in the management of vestibular schwannomas

  16. Clinicopathologic features of sporadic inclusion body myositis in China.

    Science.gov (United States)

    Li, Ke; Pu, Chuanqiang; Huang, Xusheng; Liu, Jiexiao; Mao, Yanling; Lu, Xianghui

    2015-01-01

    This study is to investigate the clinical and pathologic features of sporadic inclusion body myositis (sIBM) in China. We retrospectively evaluated the clinical and pathological features of consecutive patients in our department between January 1986 to May 2012. Total 28 cases of sIBM (20 males, 8 females, mean age was 56.93±8.79) were obtained by review of all 4099 muscle biopsy reports. The proportion of sIBM was 0.68% (28/4099) in China. Muscle weakness of quadriceps appeared 100% in 28 cases, while conspicuous atrophy of quadriceps appeared only in five cases (17.86%). Creatase values of 28 patients with sIBM were normal or mildly elevated. Muscle biopsies showed that atrophic fibers resembled more frequent in small angular and irregular shape (82.14%), less common in small round shape (17.86%). Rimmed vacuoles resembled crack (67.86%) and round (32.14%) shape. Mononuclear cell invasion into necrotic muscle fibers (35.71%) was more frequent than non-necrotic muscle fibers (7.14%). sIBM was still a rare disease in China compared to other countries. There were some certain specific pathological characteristics existed in Chinese sIBM patients. PMID:26188941

  17. Biological and genetic markers of sporadic Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Engelborghs S

    2001-04-01

    Full Text Available With the development of new treatments, there is an increasing need for early diagnosis of sporadic Alzheimer's disease. Therefore, biological markers allowing positive diagnosis early in the course of the disease are highly desirable. Cerebrospinal fluid levels of protein tau were shown to be significantly increased in patients with Alzheimer's disease. Although sensitivity is high, poor specificity limits the diagnostic value of this marker. The same is true for the 42 amino acid isoform of beta-amyloid protein that is significantly decreased in cerebrospinal fluid of Alzheimer's disease patients. However, combining both markers could improve specificity at least allowing differentiation between Alzheimer's disease, normal ageing and depressive pseudodementia. Other biological markers such as cerebrospinal fluid levels of neurotransmitters, cytokines or superoxide dismutase were shown to have even less diagnostic value. The apolipoprotein epsilon 4 allele is a risk factor for Alzheimer's disease but not a diagnostic marker as many individuals who inherit epsilon 4 do not develop the disease. Till now, a single diagnostic marker allowing discrimination between Alzheimer's disease and other dementias does not exist. Combined cerebrospinal fluid levels of beta-amyloid protein and tau protein might be used as a marker that helps discriminating Alzheimer's disease from normal ageing and depression.

  18. SuprimeCam Observation of Sporadic Meteors during Perseids 2004

    CERN Document Server

    Iye, M; Yanagisawa, M; Ebizuka, N; Ohnishi, K; Hirose, C; Asami, N; Komiyama, Yu; Furusawa, H

    2007-01-01

    We report the serendipitous findings of 13 faint meteors and 44 artificial space objects by Subaru SuprimeCam imaging observations during 11-16 August 2004. The meteors, at about 100km altitude, and artificial satellites/debris in orbit, at 500km altitude or higher, were clearly discriminated by their apparent defocused image sizes. CCD photometry of the 13 meteors, including 1 Perseid, 1 Aquarid, and 11 sporadic meteors, was performed. We defined a peak video-rate magnitude by comparing the integrated photon counts from the brightest portion of the track traversed within 33ms to those from a 0-mag star during the same time duration. This definition gives magnitudes in the range 4.0< V_{vr} <6.4 and 4.1< I_{vr}<5.9 for these 13 meteors. The corresponding magnitude for virtual naked-eye observers could be somewhat fainter especially for the V-band observation, in which the [OI] 5577 line lasting about 1 sec as an afterglow could contribute to the integrated flux of the present 5-10 min CCD exposure...

  19. Double atmospheric gravity wave frequency oscillations of sporadic E formed in a horizontal shear flow

    International Nuclear Information System (INIS)

    The new theory of sporadic E density oscillation with double atmospheric gravity wave (AGW) frequency in two-dimensional case taking into account ions ambipolar diffusion is presented. It is found that densities of multi-layered sporadic E, formed under the influence of atmospheric vortical perturbation (with vertical wavelength ?z?0) evolving in the horizontal shear flow (shear wave), can oscillate with up to double Brunt-Vaeisaelae frequency under the action of short-period AGW, in which shear wave is transformed. The formation of multi-layered sporadic E (inside regions with vertical thickness about ?z/2) and its density changes in every half AGW period close to ions convergence region occur by combined action of ion-neutral collision and Lorentz forcing and can cause additional accumulation of ions responsible for sporadic E density oscillation with double AGW frequency.

  20. Results of surgery for sporadic primary hyperparathyroidism in patients with preoperatively negative sestamibi scintigraphy and ultrasound

    DEFF Research Database (Denmark)

    Bergenfelz, Anders O J; Wallin, Göran; Jansson, Svante; Eriksson, Håkan; Mårtensson, Hans; Christiansen, Peer; Reihnér, Eva

    2011-01-01

    The purpose of this study is to investigate the results of first-time surgery for sporadic primary hyperparathyroidism (pHPT) in patients with preoperatively negative sestamibi scintigraphy and ultrasound.

  1. Geographical and seasonal correlation of multiple sclerosis to sporadic schizophrenia

    Directory of Open Access Journals (Sweden)

    Fritzsche Markus

    2002-12-01

    Full Text Available Abstract Background Clusters by season and locality reveal a striking epidemiological overlap between sporadic schizophrenia and multiple sclerosis (MS. As the birth excesses of those individuals who later in life develop schizophrenia mirror the seasonal distribution of Ixodid ticks, a meta analysis has been performed between all neuropsychiatric birth excesses including MS and the epidemiology of spirochaetal infectious diseases. Results The prevalence of MS and schizophrenic birth excesses entirely spares the tropical belt where human treponematoses are endemic, whereas in more temperate climates infection rates of Borrelia garinii in ticks collected from seabirds match the global geographic distribution of MS. If the seasonal fluctuations of Lyme borreliosis in Europe are taken into account, the birth excesses of MS and those of schizophrenia are nine months apart, reflecting the activity of Ixodes ricinus at the time of embryonic implantation and birth. In America, this nine months' shift between MS and schizophrenic births is also reflected by the periodicity of Borrelia burgdorferi transmitting Ixodes pacificus ticks along the West Coast and the periodicity of Ixodes scapularis along the East Coast. With respect to Ixodid tick activity, amongst the neuropsychiatric birth excesses only amyotrophic lateral sclerosis (ALS shows a similar seasonal trend. Conclusion It cannot be excluded at present that maternal infection by Borrelia burgdorferi poses a risk to the unborn. The seasonal and geographical overlap between schizophrenia, MS and neuroborreliosis rather emphasises a causal relation that derives from exposure to a flagellar virulence factor at conception and delivery. It is hoped that the pathogenic correlation of spirochaetal virulence to temperature and heat shock proteins (HSP might encourage a new direction of research in molecular epidemiology.

  2. Upregulated Genes In Sporadic, Idiopathic Pulmonary Arterial Hypertension

    Directory of Open Access Journals (Sweden)

    Yacoub Magdi H

    2006-01-01

    Full Text Available Abstract Background To elucidate further the pathogenesis of sporadic, idiopathic pulmonary arterial hypertension (IPAH and identify potential therapeutic avenues, differential gene expression in IPAH was examined by suppression subtractive hybridisation (SSH. Methods Peripheral lung samples were obtained immediately after removal from patients undergoing lung transplant for IPAH without familial disease, and control tissues consisted of similarly sampled pieces of donor lungs not utilised during transplantation. Pools of lung mRNA from IPAH cases containing plexiform lesions and normal donor lungs were used to generate the tester and driver cDNA libraries, respectively. A subtracted IPAH cDNA library was made by SSH. Clones isolated from this subtracted library were examined for up regulated expression in IPAH using dot blot arrays of positive colony PCR products using both pooled cDNA libraries as probes. Clones verified as being upregulated were sequenced. For two genes the increase in expression was verified by northern blotting and data analysed using Student's unpaired two-tailed t-test. Results We present preliminary findings concerning candidate genes upregulated in IPAH. Twenty-seven upregulated genes were identified out of 192 clones examined. Upregulation in individual cases of IPAH was shown by northern blot for tissue inhibitor of metalloproteinase-3 and decorin (P Conclusion Four of the up regulated genes, magic roundabout, hevin, thrombomodulin and sucrose non-fermenting protein-related kinase-1 are expressed specifically by endothelial cells and one, muscleblind-1, by muscle cells, suggesting that they may be associated with plexiform lesions and hypertrophic arterial wall remodelling, respectively.

  3. Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia

    OpenAIRE

    Groffen, Alexander J. A.; Klapwijk, Thom; Van Rootselaar, Anne-Fleur; Groen, Justus L.; Tijssen, Marina A. J.

    2012-01-01

    Paroxysmal dyskinesia (PxD) is a group of movement disorders characterized by recurrent episodes of involuntary movements. Familial paroxysmal kinesigenic dyskinesia (PKD) is caused by PRRT2 mutations, but a distinct etiology has been suggested for sporadic PKD. Here we describe a cohort of patients collected from our movement disorders outpatient clinic in the period 1996–2011. Fifteen patients with sporadic PxD and 23 subjects from three pedigrees with familial PKD were screened for mutatio...

  4. Expression of proteins involved in DNA damage response in familial and sporadic breast cancer patients.

    Science.gov (United States)

    Partipilo, Giulia; Simone, Giovanni; Scattone, Anna; Scarpi, Emanuela; Azzariti, Amalia; Mangia, Anita

    2016-01-01

    Understanding the expression of proteins involved in DNA damage response could improve knowledge of the pathways that contribute to familial and sporadic breast cancer (BC). We aimed to assess the different roles of BRCA1, poly(ADP-ribose) polymerase-1 (PARP1), BRCT-repeat inhibitor of hTERT expression (BRIT1) and novel SWItch 5 (SWI5) expression in 130 sporadic and 73 familial BC samples, by immunohistochemistry. In the sporadic group, negative nuclear BRCA1 (nBRCA1) expression was associated with positive PgR (p?=?0.037). Negative association was found between nBRCA1 expression and HER2 (p?=?0.001). In the familial group, nBRCA1 expression was associated with ER (p?=?0.002). Reduced nBRCA1 expression was associated with higher histological grade and positive Ki67 both in sporadic (p?=?0.0010, p?=?0.047) and familial groups (p?factor associated with a high risk of sporadic tumor (OR 2.96, p?=?0.017). Our findings indicate that nPARP1 expression is an independent factor for sporadic BCs and PARP1 inhibitors could be a promising therapy for different phenotypes. PMID:26205471

  5. Structure and sources of the sporadic meteor background from video observations

    Science.gov (United States)

    Jakšová, Ivana; Porub?an, Vladimír; Kla?ka, Jozef

    2015-10-01

    We investigate and discuss the structure of the sporadic meteor background population in the near-Earth space based on video meteor orbits from the SonotaCo database (SonotaCo 2009, WGN, 37, 55). The selection of the shower meteors was done by the Southworth-Hawkins streams-search criterion (Southworth & Hawkins 1963, Smithson. Contr. Astrophys., 7, 261). Of a total of 117786 orbits, 69.34% were assigned to sporadic background meteors. Our analysis revealed all the known sporadic sources, such as the dominant apex source which is splitting into the northern and southern branch. Part of a denser ring structure about the apex source connecting the antihelion and north toroidal sources is also evident. We showed that the annual activity of the apex source is similar to the annual variation in activity of the whole sporadic background. The antihelion source exhibits a very broad maximum from July until January and the north toroidal source shows three maxima similar to the radar observations by the Canadian Meteor Orbit Radar (CMOR). Potential parent bodies of the sporadic population were searched for by comparison of the distributions of the orbital elements of sporadic meteors, minor planets and comets.

  6. Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease

    DEFF Research Database (Denmark)

    van Eimeren, Thilo; Binkofski, Ferdinand

    2010-01-01

    Treatment-related motor complications such as dyskinesias are a major problem in the long-term management of Parkinson’s disease (PD). In sporadic PD, a relatively early onset of the disease is known to be associated with an early development of dyskinesias. Although linked with early onset, patients with Parkin-associated PD often show a stable long-term response to dopaminergic therapy without developing treatment-induced motor complications. Therefore, we reasoned that this difference in vulnerability to develop dyskinesias under long-term dopaminergic therapy may be associated with differences in movement-related activation patterns in Parkin-associated compared to sporadic PD. To test this hypothesis, medicated non-dyskinetic patients with either Parkin-associated or sporadic PD underwent functional magnetic resonance imaging (fMRI) while performing externally specified or internally selected movements. Patients with Parkin-associated and sporadic PD showed no difference in movement-related activation patterns. Moreover, the covariates ‘age’ and ‘disease duration’ similarly influenced brain activation in both patient groups. The present finding suggests that a stable long-term motor response in some patients with Parkin-associated PD may not be related to differences in cortical recruitment. In conclusion, our findings corroborate a substantial pathophysiologic overlap between Parkin-associated and sporadic PD and lend further support to the notion that Parkin-associated PD is a suitable genetic model for sporadic PD.

  7. Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Praline, Julien; Blasco, Hélène; Vourc'h, Patrick; Rat, Valérian; Gendrot, Chantal; Camu, William; Andres, Christian R

    2012-06-15

    Our objective was to investigate whether the C282Y (p.Cys 282 Tyr) and H63D (p. His 63 Asp) HFE polymorphisms were associated with sporadic amyotrophic lateral sclerosis (SALS) in the French population. We searched for a relation of HFE polymorphisms with the clinical characteristics of the disease. The HFE polymorphisms were studied in 824 patients with SALS and 583 controls. We compared the frequency of the polymorphisms between SALS and controls groups by univariate and multivariate statistics, taking into account gender, site, age-at-onset and survival. We did not observe significant difference in the frequency of H63D polymorphism between SALS and control group. We observed a significant difference for C282Y between patients and controls with a low frequency of the Y allele in patients (3.2%) compared to our control group (5.9%). Disease duration, distribution of gender, site-of-onset, age-at-onset did not differ between groups taking into account genotypes of each polymorphism. Our results in this large cohort of ALS patients indicate that H63D polymorphism is not associated with SALS in the French population. This conclusion does not exclude a weak effect of the HFE gene polymorphisms in certain ALS populations, or an effect of other rare HFE gene variants. PMID:22425014

  8. Sporadic Medullary Thyroid Carcinoma: Clinical Data From A University Hospital

    Science.gov (United States)

    Correia-Deur, Joya Emilie M.; Toledo, Rodrigo A.; Imazawa, Alice T.; Lourenço, Delmar M.; Ezabella, Marilza C. L.; Tavares, Marcos R.; Toledo, Sergio P. A.

    2009-01-01

    INTRODUCTION: Medullary thyroid carcinoma may occur in a sporadic (s-medullary thyroid carcinoma, 75%) or in a multiple endocrine neoplasia type 2 form (MEN2, 25%). These clinical forms differ in many ways, as s-medullary thyroid carcinoma cases are RET-negative in the germline and are typically diagnosed later than medullary thyroid carcinoma in MEN2 patients. In this study, a set of cases with s-medullary thyroid carcinoma are documented and explored. PURPOSE: To document the phenotypes observed in s-medullary thyroid carcinoma cases from a university group and to attempt to improve earlier diagnosis of s-medullary thyroid carcinoma. Some procedures for diagnostics are also recommended. METHOD: Patients (n=26) with apparent s-medullary thyroid carcinoma were studied. Their clinical data were reviewed and peripheral blood was collected and screened for RET germline mutations. RESULTS: The average age at diagnosis was 43.9 years (± 10.82 SD) and did not differ between males and females. Calcitonin levels were increased in all cases. Three patients presented values that were 100-fold greater than the normal upper limit. Most (61.54%) had values that were 20-fold below this limit. Carcinoembryonic antigen levels were high in 70.6% of cases. There was no significant association between age at diagnosis, basal calcitonin levels or time of disease onset with thyroid tumor size (0.6–15 cm). Routine thyroid cytology yielded disappointing diagnostic accuracy (46.7%) in this set of cases. After total thyroidectomy associated with extensive cervical lymph node resection, calcitonin values remained lower than 5 pg/mL for at least 12 months in eight of the cases (30.8%). Immunocyto- and histochemistry for calcitonin were positive in all analyzed cases. None of the 26 cases presented germline mutations in the classical hotspots of the RET proto-oncogene. CONCLUSION: Our cases were identified late. The basal calcitonin measurements and immunostaining for calcitonin were highly useful for diagnosing s-medullary thyroid carcinoma. The rate of complete patient recovery was low, and none of the parameters analyzed were useful predictors of the thyroid tumor size. Our findings support previous recommendations for routine serum calcitonin evaluation and immunostaining analysis involving single thyroid nodules. PMID:19488601

  9. Morphological abnormalities in mitochondria of the skin of patients with sporadic amyotrophic lateral sclerosis

    Directory of Open Access Journals (Sweden)

    Gabriel E. Rodríguez

    2012-01-01

    Full Text Available OBJECTIVES: Mitochondrial dysfunction has been reported in the central nervous system, hepatocytes and peripheral blood lymphocytes from patients with sporadic amyotrophic lateral sclerosis (SALS. However, the status of skin mitochondria has not been reported, in spite of the fact that SALS patients present skin abnormalities. The objective of the present study was to compare mitochondrial ultrastructural parameters in keratinocytes from patients with SALS and healthy controls. METHODS: Our study was based on the analysis of 112 skin mitochondria from 5 SALS patients and 99 organelles from 4 control subjects by electron microscopy. RESULTS: Computerized image analysis showed that mitochondrial major axis length, area and perimeter of the organelle were significantly smaller in SALS respect of healthy control subjects. Morphologically, SALS mitochondria presented cristolysis and breakage of the outer membrane. CONCLUSIONS: Mitochondrial dysfunction in the skin may possibly reflect changes occurring in mitochondria of the central nervous system. The analysis of mitochondrial morphology in this tissue may be of value to follow disease progression and, eventually, the effectiveness of current therapies for SALS.

  10. Carotid, aorta and renal arteries intima-media thickness in patients with sporadic idiopathic hypoparathyroidism

    Science.gov (United States)

    Meena, Deshraj; Prakash, Mahesh; Gupta, Yashdeep; Bhadada, Sanjay Kumar; Khandelwal, Niranjan

    2015-01-01

    Background: Alteration in homeostasis of calcium, phosphate and parathyroid hormone (PTH) predispose to vascular calcification that increases the risk of cardiovascular morbidity and mortality. The data on this aspect are scarce in patients with sporadic idiopathic hypoparathyroidism (SIH). Objective: The aim was to assess the effect of altered calcium, phosphate and PTH homeostasis in patients with SIH on intima media thickness (IMT), a surrogate marker of increased vascular risk. Methods: In this case–control study, we measured carotid IMT (CIMT), aortic IMT (AIMT) and renal arteries IMT (RIMT) in 30 consecutive patients with SIH, and compared with healthy subjects. IMT was measured by ultrasound by a single operator blinded to subject's details. Results: CIMT, AIMT, RIMT values in patients with SIH were significantly more than healthy subjects (0.60 ± 0.08 mm vs. 0.52 ± 0.09 mm, P = 0.001; 0.73 ± 0.09 mm vs. 0.65 ± 0.10, P = 0.004; and 0.34 ± 0.04 mm vs. 0.30 ± 0.05, P = 0.003, respectively). Clinical or biochemical parameters did not correlate with CIMT, AIMT and RIMT in patients with SIH. Conclusion: The vascular risk is increased in patients with SIH as assessed by CIMT, AIMT, and RIMT. PMID:25729689

  11. Sporadic congenital transmission of avian leukosis virus in hens discharging the virus into the oviducts.

    Science.gov (United States)

    Tsukamoto, K; Hasebe, M; Kakita, S; Taniguchi, Y; Hihara, H; Kono, Y

    1992-02-01

    The efficacy of the albumen test for infectious avian leukosis virus (ALV) was examined in detecting congenitally transmitting hens. Seventy-three White Leghorn non-viremic hens with antibody to ALV were used. Eleven of the hens shed infectious ALV into their egg albumen, whereas only 7 of the 11 ALV-positive hens shed ALV antigens. The egg albumen test for infectious ALV was shown to be more effective in detecting the congenitally transmitting hens than that for ALV antigens. Then, twenty of the 62 hens which shed no infectious ALV into the albumen were studied for transmission of ALV to their embryos and for discharging ALV into the oviduct and vagina. Six of the 50 embryos from 4 hens were found to be infected with ALV but all of the 227 embryos from remaining 16 hens were free from the infection. Discharge of the virus into the oviduct and vagina was found both in the 4 transmitting hens and in 6 of the 16 non-transmitting hens. These results suggest that the hens discharging ALV into the oviduct, even though they do not shed ALV into egg albumen, may transmit the virus sporadically to their embryos. PMID:1313708

  12. Carotid, aorta and renal arteries intima-media thickness in patients with sporadic idiopathic hypoparathyroidism

    Directory of Open Access Journals (Sweden)

    Deshraj Meena

    2015-01-01

    Full Text Available Background: Alteration in homeostasis of calcium, phosphate and parathyroid hormone (PTH predispose to vascular calcification that increases the risk of cardiovascular morbidity and mortality. The data on this aspect are scarce in patients with sporadic idiopathic hypoparathyroidism (SIH. Objective: The aim was to assess the effect of altered calcium, phosphate and PTH homeostasis in patients with SIH on intima media thickness (IMT, a surrogate marker of increased vascular risk. Methods: In this case-control study, we measured carotid IMT (CIMT, aortic IMT (AIMT and renal arteries IMT (RIMT in 30 consecutive patients with SIH, and compared with healthy subjects. IMT was measured by ultrasound by a single operator blinded to subject?s details. Results: CIMT, AIMT, RIMT values in patients with SIH were significantly more than healthy subjects (0.60 ± 0.08 mm vs. 0.52 ± 0.09 mm, P = 0.001; 0.73 ± 0.09 mm vs. 0.65 ± 0.10, P = 0.004; and 0.34 ± 0.04 mm vs. 0.30 ± 0.05, P = 0.003, respectively. Clinical or biochemical parameters did not correlate with CIMT, AIMT and RIMT in patients with SIH. Conclusion: The vascular risk is increased in patients with SIH as assessed by CIMT, AIMT, and RIMT.

  13. Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH.

    Science.gov (United States)

    Jarbo, Caroline; Buckley, Patrick G; Piotrowski, Arkadiusz; Mantripragada, Kiran K; Benetkiewicz, Magdalena; Diaz de Ståhl, Teresita; Langford, Cordelia F; Gregory, Simon G; Dralle, Henning; Gimm, Oliver; Bäckdahl, Martin; Geli, Janos; Larsson, Catharina; Westin, Gunnar; Akerström, Göran; Dumanski, Jan P

    2006-03-01

    Pheochromocytoma is a predominantly sporadic neuroendocrine tumor derived from the adrenal medulla. Previous low resolution LOH and metaphase-CGH studies reported the loss of chromosomes 1p, 3q, 17p and 22q at various frequencies. However, the molecular mechanism(s) behind development of sporadic pheochromocytoma remains largely unknown. We have applied high-resolution tiling-path microarray-CGH with the primary aim to characterize copy number imbalances affecting chromosome 22 in 66 sporadic pheochromocytomas. We detected copy number alterations on 22q at a frequency of 44%. The predominant finding was monosomy 22 (30%), followed by terminal deletions in 8 samples (12%) and a single interstitial deletion. We further applied a chromosome 1 tiling-path array in 7 tumors with terminal deletions of 22q and found deletions of 1p in all cases. Our overall results suggest that at least 2 distinct regions on both 22q and 1p are important in the tumorigenesis of sporadic pheochromocytoma. A large proportion of pheochromocytomas also displayed indications of cellular heterogeneity. Our study is to our knowledge the first array-CGH study of sporadic pheochromocytoma. Future analysis of this tumor type should preferably be performed in the context of the entire human genome using genome-wide array-CGH, which is a superior methodological approach. Supplemental material for this article can be found on the International Journal of Cancer website at http://www.interscience.wiley.com/jpages/0020-7136/suppmat/index.html. PMID:16161042

  14. BRCA 1/2-mutation related and sporadic breast and ovarian cancers: More alike than different

    Directory of Open Access Journals (Sweden)

    MelissaA.Burgess

    2014-02-01

    Full Text Available No longer is histology solely predictive of cancer treatment and outcome. There is an increasing influence of tumor genomic characteristics on therapeutic options. Both breast and ovarian cancers are at higher risk of development in patients with BRCA 1/2-germline mutations. Recent data from the Cancer Genome Atlas (TCGA and others have shown a number of genomic similarities between triple negative breast cancers and ovarian cancers. Recently, poly (ADP-ribose polymerase (PARP inhibitors have shown promising activity in hereditary BRCA 1/2-mutated and sporadic breast and ovarian cancers. In this review, we will summarize the current literature regarding the genomic and phenotypic similarities between BRCA 1/2-mutation related cancers, sporadic triple negative breast cancers, and sporadic ovarian cancers. We will also review phase I, II, and III data using PARP inhibitors for these malignancies and compare and contrast the results with respect to histology.

  15. Unusual Large Sporadic Angiomyolipoma Co-existing with Huge Simple Renal Cyst

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    Sunil V Jagtap

    2011-07-01

    Full Text Available Renal Angiomyolipoma (AML is an unusual benign mesenchymal tumor with no malignant potential. It is composed of adipose tissue, smooth muscle and abnormal thick walled blood vessels. It can occur sporadically or may be associated with tuberous sclerosis. Sporadic angiomyolipoma (AML coexisting with simple renal cyst is extremely rare and only one case report is available in the literature. In our case, unique combination of sporadic AML along with simple renal cyst with huge size and weight was noted. To the best of our knowledge, ours is the second such case and first case from India. Due to its large size, complete nephrectomy was performed to avoid chances of rupture and retroperitoneal hemorrhage. Post-operative period was uneventful and the patient ahs been on regular follow-up.

  16. Magnetic resonance spectroscopic abnormalities in sporadic and variant Creutzfeldt-Jakob disease

    Energy Technology Data Exchange (ETDEWEB)

    Pandya, H.G.; Coley, S.C.; Wilkinson, I.D.; Griffiths, P.D

    2003-02-01

    AIM: To study the proton MR spectroscopic findings in Creutzfeldt-Jakob disease (CJD) (sporadic and variant). MATERIALS AND METHODS: MR imaging and proton MR spectra were acquired in two patients with sporadic CJD (biopsy proven) and one patient with variant CJD. RESULTS: The two patients with sporadic CJD demonstrated MR signal change within the basal ganglia and thalami and reduced N-acetylaspartate (NAA):creatine ratios. The patient with variant CJD showed characteristic signal change within the pulvinar of the thalami and a markedly reduced N-acetylaspartate:creatine ratio. CONCLUSION: All three patients with CJD demonstrated evidence of reduced N-acetylaspartate: creatine ratios on MR spectroscopy. These changes imply that neuronal loss and/or dysfunction is a consistent finding in established CJD. Pandya H. G., et al (2003) Clinical Radiology58, 148--153.

  17. Magnetic resonance spectroscopic abnormalities in sporadic and variant Creutzfeldt-Jakob disease

    International Nuclear Information System (INIS)

    AIM: To study the proton MR spectroscopic findings in Creutzfeldt-Jakob disease (CJD) (sporadic and variant). MATERIALS AND METHODS: MR imaging and proton MR spectra were acquired in two patients with sporadic CJD (biopsy proven) and one patient with variant CJD. RESULTS: The two patients with sporadic CJD demonstrated MR signal change within the basal ganglia and thalami and reduced N-acetylaspartate (NAA):creatine ratios. The patient with variant CJD showed characteristic signal change within the pulvinar of the thalami and a markedly reduced N-acetylaspartate:creatine ratio. CONCLUSION: All three patients with CJD demonstrated evidence of reduced N-acetylaspartate: creatine ratios on MR spectroscopy. These changes imply that neuronal loss and/or dysfunction is a consistent finding in established CJD. Pandya H. G., et al (2003) Clinical Radiology58, 148--153

  18. Microsatellite D21D210 (GT-12) allele frequencies in sporadic Alzheimer's disease

    International Nuclear Information System (INIS)

    Four disease-causing mutations have so far been described in the amyloid precursor protein gene on chromosome 21 in familial early-onset Alzheimer's disease. Linkage analysis with a fourteen-allele microsatellite at D21S210 named GT-12 has proven useful in the elucidation of amyloid presursor protein gene involvement in Alzheimer's disease families, as it is closely linked to the gene. Most cases of Alzheimer's disease are thought to be sporadic and not familial. However, evidence from earlier studies suggests an important genetic contribution also in sporadic cases, where gene-environment interaction may contribute to the disease. We have determined frequencies of the GT-12 alleles in 78 Swedish and 49 British sporadic Alzheimer's disease cases and 104 healthy elderly control subjects, to investigate if the disease associates with a particular genotype in GT-12. However, no differences in allele frequencies were observed between any of the groups. (au) (26 refs.)

  19. Simultaneous observation of sporadic E with a rapid-run ionosonde and VHF coherent backscatter radar

    Directory of Open Access Journals (Sweden)

    T. Maruyama

    2006-03-01

    Full Text Available During the SEEK 2 rocket campaign, ionograms were recorded every minute at the Yamagawa Radio Observatory at about 90km west of the region monitored by a VHF (very high frequency coherent backscatter radar. Sporadic E-layer parameters, which include the critical (foEs and blanketing (fbEs frequencies, the layer height (h'Es, and the width of the range spread of sporadic E-traces, were compared with RTI (range-time-intensity plots of VHF quasi-periodic (QP and continuous coherent backscatter echoes. A close relationship was found between the appearance of QP echoes in the RTI plots and the level of spatial inhomogeneity in sporadic E plasma, signified here by the difference between foEs and fbEs. During QP echo events, foEs increased while fbEs decreased, so that the difference foEs-fbEs was enhanced, indicating the development of strong spatial structuring in electron density within a sporadic E-layer. On the other hand, increases in sporadic E range spreading also correlated with the occurrence of QP echoes but the degree of correlation varied from event to event. Continuous radar echoes were observed in association with low altitude sporadic E-layers, located well below 100 km and at times as low as 90 km. During the continuous echo events, both foEs and fbEs were less variable, and the difference foEs-fbEs was small and not as dynamic as in the QP echoes. On the other hand, the Es-layer spread intensified during continuous echoes, which means that some patchiness or corrugation in those low altitude layers is also necessary for the continuous backscatter echoes to take place.

  20. An emerging role for misfolded wild-type SOD1 in sporadic ALS pathogenesis

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    Daryl A Bosco

    2013-12-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is a fatal neurodegenerative disorder that targets motor neurons, leading to paralysis and death within a few years of disease onset. While several genes have been linked to the inheritable, or familial, form of ALS, much less is known about the cause(s of sporadic ALS, which accounts for approximately 90% of ALS cases. Due to the clinical similarities between familial and sporadic ALS, it is plausible that both forms of the disease converge on a common pathway and, therefore, involve common factors. Recent evidence suggests the Cu,Zn-superoxide dismutase (SOD1 protein to be one such factor that is common to both sporadic and familial ALS. In 1993, mutations were uncovered in SOD1 that represent the first known genetic cause of familial ALS. While the exact mechanism of mutant-SOD1 toxicity is still not known today, most evidence points to a gain of toxic function that stems, at least in part, from the propensity of this protein to misfold. In the wild-type SOD1 protein, non-genetic perturbations such as metal depletion, disruption of the quaternary structure, and oxidation, can also induce SOD1 to misfold. In fact, these aforementioned post-translational modifications cause wild-type SOD1 to adopt a “toxic conformation” that is similar to familial ALS-linked SOD1 variants. These observations, together with the detection of misfolded wild-type SOD1 within human post-mortem sporadic ALS samples, have been used to support the controversial hypothesis that misfolded forms of wild-type SOD1 contribute to sporadic ALS pathogenesis. In this review, we present data from the literature that both support and contradict this hypothesis. We also discuss SOD1 as a potential therapeutic target for both familial and sporadic ALS.

  1. Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclerosis.

    Science.gov (United States)

    Statland, Jeffrey M; Barohn, Richard J; McVey, April L; Katz, Jonathan S; Dimachkie, Mazen M

    2015-11-01

    When approaching a patient with suspected motor neuron disease (MND), the pattern of weakness on examination helps distinguish MND from other diseases of peripheral nerves, the neuromuscular junction, or muscle. MND is a clinical diagnosis supported by findings on electrodiagnostic testing. MNDs exist on a spectrum, from a pure lower motor neuron to mixed upper and lower motor neuron to a pure upper motor neuron variant. Amyotrophic lateral sclerosis (ALS) is a progressive mixed upper and lower motor neuron disorder, most commonly sporadic, which is invariably fatal. This article describes a pattern approach to identifying MND and clinical features of sporadic ALS. PMID:26515618

  2. Cortical restricted diffusion as the predominant MRI finding in sporadic Creutzfeldt-Jakob disease

    Energy Technology Data Exchange (ETDEWEB)

    Talbott, Sabrina D.; Sattenberg, Ronald J.; Heidenreich, Jens O. (Dept. of Radiology, Univ. of Louisville, Louisville (United States)), e-mail: sdtalb02@gwise.louisville.edu; Plato, Brian M (Dept. of Neurology, Univ. of Louisville, Louisville (United States)); Parker, John (Dept. of Pathology and Laboratory Medicine, Univ. of Louisville, Louisville (United States))

    2011-04-15

    Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder with MR findings predominantly limited to the grey matter of the cortex and the basal ganglia. Sporadic Creutzfeldt-Jakob disease can produce a spectrum of MR imaging findings of the brain, most notably on DWI and FLAIR sequences. Involvement of the basal ganglia and neocortex is the most common finding, but isolated involvement of the cortex can also be seen. We describe the clinical history and MRI findings of three patients with sporadic Creutzfeldt-Jakob disease confirmed by brain biopsy or autopsy and review the literature of imaging manifestations of this disease

  3. Immunoquantitative PCR for prion protein detection in sporadic Creutzfeldt-Jakob disease.

    OpenAIRE

    Gofflot, Stéphanie; Deprez, Manuel; Elmoualij, Benaïssa; Osman, Awad; Thonnart, Jean-François; Hougrand, Olivier; Heinen, Ernst; Zorzi, Willy

    2005-01-01

    BACKGROUND: The most common human prion disorder is Creutzfeldt-Jakob disease (CJD); it includes sporadic, familial, iatrogenic, and variant subtypes. Diagnostic tests aim at detection with the highest specificity of very small deposits of abnormal prion protein (PrP). METHODS: We used immunoquantitative PCR (iqPCR) to detect proteinase K-resistant PrP (PrPRes) in tissue from the middle frontal gyrus of 7 patients with sporadic CJD and 7 non-CJD cases. We compared iqPCR with routine optimized...

  4. P2X7 gene polymorphisms do not appear to be a susceptibility gene locus in sporadic cases of systemic lupus erythematosus.

    Science.gov (United States)

    Forchap, S L; Anandacoomarasamy, A; Wicks, J; Di Virgilio, F; Baricordi, O R; Rubbini, M; Trotta, F; Wiley, J; Manolios, N

    2008-11-01

    The P2X(7) receptor is a ligand-gated cation-selective channel that mediates ATP-induced apoptosis of cells of the immune system. A loss-of-function single nucleotide polymorphism (SNP) at position 1513 (1513 A-->C) of the P2X(7) gene has recently been identified in both healthy and chronic lymphocytic leukemia (CLL) B-cells, translating into a loss of P2X(7)-mediated apoptosis in these cells. This antiapoptotic effect results in increased B-cell numbers, thereby potentially contributing to the survival of B-CLL clones. It was hypothesized that prolonged cell survival may also predispose to induction of autoimmunity. The objective of this study is to analyze the role of the P2X(7) receptor and its loss-of-function 1513 A-->C polymorphism (SNP) in the development of systemic lupus erythematosus (SLE). DNA samples obtained from patients with sporadic SLE were analyzed for the presence of the 1513 A-->C polymorphism using polymerase chain reaction (PCR) amplification and then direct sequencing. No significant difference in allele frequencies (1513 A-->C polymorphism) between sporadic cases of SLE and controls was found. A loss-of-function SNP at position 1513 (1513 A-->C) of the P2X(7) gene does not appear to be a susceptibility gene locus for the development of sporadic SLE. PMID:18937793

  5. Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

    Directory of Open Access Journals (Sweden)

    Chupin Louis-Dominique

    2008-11-01

    Full Text Available Abstract Background Sporadic colorectal cancers (CRC are multifactorial diseases resulting from the combined effects of numerous genetic, environmental and behavioral risk factors. Genetic association studies have suggested low-penetrance alleles of extremely varied genes to be involved in susceptibility to CRC in Caucasian populations. Methods Through a large genetic association study based on 1023 patients with sporadic CRC and 1121 controls, we tested a panel of these low-penetrance alleles to find out whether they could determine "genotypic profiles" at risk for CRC among individuals of the French population. We examined 52 polymorphisms of 35 genes – drawn from inflammation, xenobiotic detoxification, one-carbon, insulin signaling, and DNA repair pathways – for their possible contribution to colorectal carcinogenesis. The risk of cancer associated with these polymorphisms was assessed by calculation of odds ratios (OR using multivariate analyses and logistic regression. Results Whereas all these polymorphisms had previously been found to be associated with CRC risk, especially in Caucasian populations, we were able to replicate the association for only five of them. Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly, IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu. On the contrary, two other SNPs, PLA2G2A c.435+230C>T and PPARG c.1431C>T (p.His477His, were associated with a decrease in CRC risk. Further analyses highlighted genotypic combinations having a greater predisposing effect on CRC (OR 1.97, 95%CI 1.31–2.97, p = 0.0009 than the allelic variants that were examined separately. Conclusion The identification of CRC-predisposing combinations, composed of alleles PTGS1 c.639A, PLA2G2A c.435+230C, PPARG c.1431C, IL8 c.-352A, and MTHFR c.1286C, highlights the importance of inflammatory processes in susceptibility to sporadic CRC, as well as a possible crosstalk between inflammation and one-carbon pathways.

  6. Variation of sporadic meteor activity during the 23. cycle of solar activity

    International Nuclear Information System (INIS)

    Analyses of the influence of solar activity on sporadic meteor counts based on visual and radar meteor observations present rather contradictory results, indicating a possible variation of the sporadic meteor counts with a solar activity, with the maximum in observed meteor rates occurring from zero up to about five years after the solar activity maximum. With this perspective, in the present paper observations of the sporadic meteor background, obtained by a forward-scatter radio system for meteor observation operating along the Bologna (Italy)-Modra (Slovakia) baseline in 1996-2007, are analysed and discussed. The activity curves of all echoes and their variations indicate a correlation with solar activity in the 23. solar cycle represented by the solar relative number R (corr. coef. 0.71), as well as with the solar coronal index C1 (corr. coef. 0.73). The mass distribution exponent s and its variations (with corr. coef. against R and C1, 0.12 and 0.25, respectively) does not show a correlation consistent with solar activity and, from the viewpoint of s, suggest the existence of a relatively stable population of sporadic background meteoroids in the surroundings of the Earth's orbit during the investigated period.

  7. CT findings of sporadic cherubism in a 6 year old boy

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    Sohn, Beom Seok; Kim, Jinna; Shin, Na Young; KIm, Chang Hoon [Severance Hospital, Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2014-01-15

    Cherubism is a rare hereditary disease that affects the jaws in children. This condition shows distinctive computed tomography (CT) imaging features of multilocular, expansile, cystic lesions limited to the maxilla and mandible bilaterally, which can play a key role in the diagnosis of cherubism. We report here a case of sporadic cherubism with characteristic radiologic findings in a 6-year-old Korean boy.

  8. De Novo Copy Number Variants Identify New Genes and Loci in Isolated, Sporadic Tetralogy of Fallot

    OpenAIRE

    Greenway, Steven C.; Alexandre C. Pereira; Lin, Jennifer C.; DePalma, Steven R.; Israel, Samuel J; Mesquita, Sonia M.; Ergul, Emel; Conta, Jessie R; Korn, Joshua M.; McCarroll, Steven A; Gorham, Joshua M.; Gabriel, Stacey; Altshuler, David A; de Lourdes Quintanilla-Dieck, Maria; Artunduaga, Maria Alexandra

    2009-01-01

    Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. A genome-wide survey of 114 TOF patients and their unaffected parents identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (

  9. The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Blasco, Hélène; Corcia, Philippe; Veyrat-Durebex, Charlotte; Coutadeur, Cathleen; Fournier, Clémentine; Camu, William; Gordon, Paul; Praline, Julien; Andres, Christian R; Vourc'h, Patrick

    2011-05-01

    Chromogranins interact with mutant forms of superoxide dismutase 1 (SOD1) responsible for a portion of familial amyotrophic lateral sclerosis (ALS). A particular variation (P413L) in the chromogranin B gene, CHGB, has been recently associated with an earlier age at onset in both familial and sporadic ALS. The aim of our study was to evaluate the P413L chromogranin variation in French patients with sporadic amyotrophic lateral sclerosis. We developed a High Resolution DNA Melting (HRM) protocol to analyse the P413L variation in the CHGB gene in 540 French patients with sporadic ALS and 504 controls. The clinical characteristics of patients were analysed in relation to their genotype. Results showed that our study on a large cohort of French-Caucasian patients with SALS and controls failed to confirm an increased frequency of the 413L variant in SALS patients. This frequency was 5.3% in the SALS population and 5.5% in the control group. Moreover, we did not observe a previous observation of a difference of age at onset between T-allele carriers and non-carriers (median age of onset 60.4 vs. 62.0 years of age, respectively). Thus, our findings do not support the 413L variant of rs742710 as a risk factor for sporadic ALS in the French population. PMID:20932227

  10. Adult onset sporadic ataxias: a diagnostic challenge / Ataxias esporádicas de início no adulto: um desafio diagnóstico

    Scientific Electronic Library Online (English)

    Orlando Graziani Povoas, Barsottini; Marcus Vinicius Cristino de, Albuquerque; Pedro, Braga Neto; José Luiz, Pedroso.

    2014-03-01

    Full Text Available Pacientes com ataxia progressiva que se inicia na idade adulta, e sem histórico familiar da doença, são classificados no grupo das ataxias esporádicas. Existem várias categorias de doenças que podem se manifestar com ataxia esporádica, tais como: causas tóxicas, ataxias imunomediadas, deficiência de [...] vitaminas, doenças infecciosas, doenças degenerativas e até mesmo condições genéticas. Considerando a heterogeneidade no espectro clínico das ataxias esporádicas, a definição da etiologia constitui um desafio diagnóstico. Neste artigo de revisão, realizamos uma discussão sobre as diferentes categorias de doenças que causam ataxia com início na idade adulta sem histórico familiar, com ênfase nas características clínicas, aspectos de imagem e critérios diagnósticos. Abstract in english Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic cond [...] itions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.

  11. Observation of electron biteout regions below sporadic E layers at polar latitudes

    Science.gov (United States)

    Lehmacher, G. A.; Larsen, M. F.; Croskey, C. L.

    2015-03-01

    The descent of a narrow sporadic E layer near 95 km altitude over Poker Flat Research Range in Alaska was observed with electron probes on two consecutive sounding rockets and with incoherent scatter radar during a 2 h period near magnetic midnight. A series of four trimethyl aluminum chemical releases demonstrated that the Es layer remained just slightly above the zonal wind node, which was slowly descending due to propagating long-period gravity waves. The location of the layer is consistent with the equilibrium position due to combined action of the wind shear and electric fields. Although the horizontal electric field could not be measured directly, we estimate that it was ~ 2 mV m-1 southward, consistent with modeling the vertical ion drift, and compatible with extremely quiet conditions. Both electron probes observed deep biteout regions just below the Es enhancements, which also descended with the sporadic layers. We discuss several possibilities for the cause of these depletions; one possibility is the presence of negatively charged, nanometer-sized mesospheric smoke particles. Such particles have recently been detected in the upper mesosphere, but not yet in immediate connection with sporadic E. Our observations of electron depletions suggest a new process associated with sporadic E.

  12. Observations and Modeling of Sporadic Metal Layers over the Arecibo Observatory

    Science.gov (United States)

    Delgado Gilewski, Ruben

    Nighttime observations of the atmospheric potassium and iron layers were performed using lidar, between September 2001 and December 2005, to determine the frequency and characteristics of potassium (Ks) and iron (Fes) sporadic metal layers over the Arecibo Observatory. Ks and Fes were observed to occur once every six hours of measurements, lasting about 90 minutes. Occurrence probability, peak height and full width half maxima (FWHM), strength factor and duration were determined from 1312 and 299 hours of observations for potassium and iron, respectively. Ab initio and density functional calculations were carried out to calculate the geometry and vibrational frequencies of the neutral and ionic form of KN2 and KCO2 to study the binding energy, the adiabatic ionization energy (AIE), and the vertical ionization energy (VIE). KCO 2+ and KN2+ have a significant role in Ks, acting as sinks and reservoirs in the ligand-switching recombination reactions used to describe the mesospheric potassium ion-chemistry. Finally, we present an analysis of two separate and distinct sporadic layer events in the mesosphere and lower thermosphere region above the Arecibo Observatory. One sporadic event was a high altitude layer, in which both atomic and ion sporadic layers were positioned above 100 km altitude. This represents a rather typical sporadic layer visible in both ions and neutrals at Arecibo. The other observation was less typical, with a lower altitude and more diffuse sporadic E layer, extending from below 90 km to above 95 km, which dissipated coincident with growth of a sporadic neutral K layer. We analyze these separate events using a temperature-dependent chemical model. First, we find that the high altitude layer of 12--13 June 2002 has a distinct and important temperature dependence, and that the neutral layer would not have formed had the temperature profile matched the MSIS-90 model. Second, the temperature dependent chemistry model reproduced K+ in close agreement with electron densities on 14--15 June 2002, but the neutrals do not agree well with model above 90 km and it likely requires inclusion of dynamical forcing and advection. The model, using commonly accepted chemical processes, successfully reproduces results on 12--13 June 2002. We speculate that the deficiency of the model is primarily due to the lack of realistic gravity wave parameterization.

  13. Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

    LENUS (Irish Health Repository)

    Kimmich, Okka

    2012-02-01

    Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which two stimuli are detected to be asynchronous and has been shown to be abnormal in adult-onset primary torsion dystonia. The aim was to determine the frequency of abnormal temporal discrimination thresholds in patients with sporadic adult-onset primary torsion dystonia and their first-degree relatives. We hypothesized that abnormal temporal discrimination thresholds in first relatives would be compatible with an autosomal dominant endophenotype. Temporal discrimination thresholds were examined in 61 control subjects (39 subjects <50 years of age; 22 subjects >50 years of age), 32 patients with sporadic adult-onset primary torsion dystonia (cervical dystonia n = 30, spasmodic dysphonia n = 1 and Meige\\'s syndrome n = 1) and 73 unaffected first-degree relatives (36 siblings, 36 offspring and one parent) using visual and tactile stimuli. Z-scores were calculated for all subjects; a Z > 2.5 was considered abnormal. Abnormal temporal discrimination thresholds were found in 1\\/61 (2%) control subjects, 27\\/32 (84%) patients with adult-onset primary torsion dystonia and 32\\/73 (44%) unaffected relatives [siblings (20\\/36; 56%), offspring (11\\/36; 31%) and one parent]. When two or more relatives were tested in any one family, 22 of 24 families had at least one first-degree relative with an abnormal temporal discrimination threshold. The frequency of abnormal temporal discrimination thresholds in first-degree relatives of patients with sporadic adult-onset primary torsion dystonia is compatible with an autosomal dominant disorder and supports the hypothesis that apparently sporadic adult-onset primary torsion dystonia is genetic in origin.

  14. Gene ontology analysis of pairwise genetic associations in two genome-wide studies of sporadic ALS

    Directory of Open Access Journals (Sweden)

    Kim Nora

    2012-07-01

    Full Text Available Abstract Background It is increasingly clear that common human diseases have a complex genetic architecture characterized by both additive and nonadditive genetic effects. The goal of the present study was to determine whether patterns of both additive and nonadditive genetic associations aggregate in specific functional groups as defined by the Gene Ontology (GO. Results We first estimated all pairwise additive and nonadditive genetic effects using the multifactor dimensionality reduction (MDR method that makes few assumptions about the underlying genetic model. Statistical significance was evaluated using permutation testing in two genome-wide association studies of ALS. The detection data consisted of 276 subjects with ALS and 271 healthy controls while the replication data consisted of 221 subjects with ALS and 211 healthy controls. Both studies included genotypes from approximately 550,000 single-nucleotide polymorphisms (SNPs. Each SNP was mapped to a gene if it was within 500?kb of the start or end. Each SNP was assigned a p-value based on its strongest joint effect with the other SNPs. We then used the Exploratory Visual Analysis (EVA method and software to assign a p-value to each gene based on the overabundance of significant SNPs at the ??=?0.05 level in the gene. We also used EVA to assign p-values to each GO group based on the overabundance of significant genes at the ??=?0.05 level. A GO category was determined to replicate if that category was significant at the ??=?0.05 level in both studies. We found two GO categories that replicated in both studies. The first, ‘Regulation of Cellular Component Organization and Biogenesis’, a GO Biological Process, had p-values of 0.010 and 0.014 in the detection and replication studies, respectively. The second, ‘Actin Cytoskeleton’, a GO Cellular Component, had p-values of 0.040 and 0.046 in the detection and replication studies, respectively. Conclusions Pathway analysis of pairwise genetic associations in two GWAS of sporadic ALS revealed a set of genes involved in cellular component organization and actin cytoskeleton, more specifically, that were not reported by prior GWAS. However, prior biological studies have implicated actin cytoskeleton in ALS and other motor neuron diseases. This study supports the idea that pathway-level analysis of GWAS data may discover important associations not revealed using conventional one-SNP-at-a-time approaches.

  15. Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma.

    Science.gov (United States)

    Sneddon, Sophie; Leon, Justine S; Dick, Ian M; Cadby, Gemma; Olsen, Nola; Brims, Fraser; Allcock, Richard J N; Moses, Eric K; Melton, Phillip E; de Klerk, Nicholas; Musk, A W Bill; Robinson, Bruce W S; Creaney, Jenette

    2015-05-25

    Malignant mesothelioma (MM) is a uniformly fatal tumour caused predominantly by exposure to asbestos. It is not known why some exposed individuals get mesothelioma and others do not. There is some epidemiological evidence of host susceptibility. BAP1 gene somatic mutations and allelic loss are common in mesothelioma and recently a BAP1 cancer syndrome was described in which affected individuals and families had an increased risk of cancer of multiple types, including MM. To determine if BAP1 mutations could underlie any of the sporadic mesothelioma cases in our cohort of patients, we performed targeted deep sequencing of the BAP1 exome on the IonTorrent Proton sequencer in 115 unrelated MM cases. No exonic germline BAP1 mutations of known functional significance were observed, further supporting the notion that sporadic germline BAP1 mutations are not relevant to the genetic susceptibility of MM. PMID:25796603

  16. Sporadic sodium and E layers observed during the summer 2002 MaCWAVE/MIDAS rocket campaign

    Directory of Open Access Journals (Sweden)

    B. P. Williams

    2006-07-01

    Full Text Available On 5 July 2002, a MaCWAVE (Mountain and Convective Waves Ascending VErtically payload launched from Andøya Rocket Range, Norway, observed narrow enhanced layers of electron density that were nearly coincident with sporadic sodium layers measured by the Weber sodium lidar at the nearby ALOMAR Observatory. We investigate the formation mechanism of these layers using the neutral wind and temperature profiles measured directly by the lidar and the vertical motion deduced from the sodium mixing ratio. Through comparisons of the lidar data to the sporadic E in situ data, we find support for the concentration and downward motion of ions to an altitude where chemical models predict the rapid conversion of sodium ions to neutral sodium.

  17. Sparse Model Uncertainties in Compressed Sensing with Application to Convolutions and Sporadic Communication

    OpenAIRE

    Jung, Peter; Walk, Philipp

    2014-01-01

    The success of the compressed sensing paradigm has shown that a substantial reduction in sampling and storage complexity can be achieved in certain linear and non-adaptive estimation problems. It is therefore an advisable strategy for noncoherent information retrieval in, for example, sporadic blind and semi-blind communication and sampling problems. But, the conventional model is not practical here since the compressible signals have to be estimated from samples taken solel...

  18. Aberrant crypt focus and fragile histidine triad protein in sporadic colorectal carcinoma

    OpenAIRE

    Kim Vaiphei; Aruna Rangan; Rajinder Singh

    2012-01-01

    AIM: To characterize aberrant crypt focus (ACF) in adjoining mucosa in sporadic colorectal carcinoma and to evaluate fragile histidine triad (Fhit) protein and Ki67. METHODS: ACF was identified grossly and classified histologically in 75 resected specimens. ACF was typed into hyperplastic ACF (HACF) and dysplastic ACF (DACF). Sections of ACF, carcinoma and normal colonic mucosa as control were studied for Fhit and Ki67 expressions by immunohistochemistry and were grouped according to staining...

  19. Intra-type migrative scheduling of implicit-deadline sporadic tasks on two- type heterogeneous multiprocessor

    OpenAIRE

    Raravi, Gurulingesh; Andersson, Björn; Bletsas, Konstantinos

    2011-01-01

    Consider the problem of scheduling a set of implicit-deadline sporadic tasks to meet all deadlines on a two-type heterogeneous multiprocessor platform. Each processor is either of type-1 or type-2 with each task having different execution time on each processor type. Jobs can migrate between processors of same type (referred to as intra-type migration) but cannot migrate between processors of different types. We present a new scheduling algorithm namely, LP-Relax(THR) which offers...

  20. LRE-TL: An Optimal Multiprocessor Scheduling Algorithm for Sporadic Task Sets

    OpenAIRE

    Funk, Shelby; Nanadur, Vijaykant

    2009-01-01

    This paper introduces LRE-TL, a scheduling algorithm based on LLREF, and demonstrates its flexibility and improved running time. Unlike LLREF, LRE-TL is optimal for sporadic task sets. While most LLREF events take O(n) time to run, the corresponding LRETL events take O(log n) time. LRE-TL also reduces the number of task preemptions and migrations by a factor of n. Both identical and uniform multiprocessors are considered.

  1. Environmental risk factors for sporadic acoustic neuroma (Interphone Study Group, Germany)

    DEFF Research Database (Denmark)

    Schlehofer, B; Schlaefer, K; Blettner, M; Berg, Gabriele; Böhler, E; Hettinger, I; Kunna-Grass, K; Wahrendorf, J; Schüz, J

    2007-01-01

    The only known risk factor for sporadic acoustic neuroma is high-dose ionising radiation. Environmental exposures, such as radiofrequency electromagnetic fields and noise are under discussion, as well as an association with allergic diseases. We performed a population-based case-control study in Germany investigating these risk factors in 97 cases with acoustic neuroma, aged 30 to 69 years, and in 194 matched controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in multi...

  2. Comparison of Sporadic Sclerotic Fibroma and Solitary Fibrous Tumor in the Oral Cavity

    OpenAIRE

    Lee, Ju-Han; An, Jung-Suk; Lee, Eung Seok; Kwon, Soon-Young; Kim, Young-Sik

    2007-01-01

    Sporadic sclerotic fibroma (SF) and solitary fibrous tumor (SFT) arising in the oral cavity are very rare. In this report, we describe two cases of oral pathology, one involving SF and the other involving SFT. Both cases presented with well-circumscribed, firm nodules with similar gross findings. However, the histologic findings of the SF and SFT showed rather distinct features. The SF was composed of hyalinized sclerotic collagen bundles arranged in a whorled pattern, whereas the SFT was for...

  3. Source attribution of human salmonellosis and campylobacteriosos using a systematic review of studies of sporadic infections

    DEFF Research Database (Denmark)

    Coutinho Calado Domingues, Ana Rita; Pires, Sara Monteiro; Hald, Tine

    2009-01-01

    Salmonella spp. and Campylobacter spp. are widespread and important causes of human illness worldwide. Disease is most frequently associated with foodborne transmission, but other routes of exposure, such as direct contact with live animals and person-to-person transmission, are recognized. Identifying the most important sources of human disease is essential for prioritizing food safety interventions and setting public health goals. Numerous case-control studies of sporadic infections of salmone...

  4. Differential cerebral deposition of IDE and NEP in sporadic and familial Alzheimer’s disease

    OpenAIRE

    Dorfman, Verónica Berta; Pasquini, Laura; Riudavets, Miguel; López-Costa, Juan José; Villegas, Andrés; Troncoso, Juan Carlos; Lopera, Francisco; Castaño, Eduardo Miguel; MORELLI, LAURA

    2008-01-01

    Alzheimer’s disease (AD) is characterized by amyloid ? (A?) accumulation in the brain and is classified as familial early-onset (FAD) or sporadic late-onset (SAD). Evidences suggest that deficits in the brain expression of insulin degrading enzyme (IDE) and neprilysin (NEP), both proteases involved in amyloid degradation, may promote A? deposition in SAD. We studied by immunohistochemistry IDE and NEP cortical expression in SAD and FAD samples carrying the E280A presenilin-1 missense mutation...

  5. Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer.

    Science.gov (United States)

    Joensuu, Emmi I; Nieminen, Taina T; Lotsari, Johanna E; Pavicic, Walter; Abdel-Rahman, Wael M; Peltomäki, Päivi

    2015-12-01

    Molecular mechanisms underlying coordinated hypermethylation of multiple CpG islands in cancer remain unclear and studies of methyltransferase enzymes have arrived at conflicting results. We focused on DNMT1 and DNMT3B, DNA methyltransferases responsible for (de novo) methylation, and EZH2, histone (H3K27) methyltransferase, and examined their roles in tumor suppressor gene (TSG) methylation patterns we have previously established in sporadic and familial cancers. Our investigation comprised 165 tumors, stratified by tissue of origin (117 colorectal and 48 endometrial carcinomas) and sporadic vs. familial disease (57 sporadic vs. 60 familial, mainly Lynch syndrome, colorectal carcinomas). By immunohistochemical evaluation, EZH2 protein expression was associated with a TSG methylator phenotype. DNMT1, DNMT3B, and EZH2 were expressed at significantly higher levels in tumor vs. normal tissues. DNMT1 and EZH2 expression were positively correlated and higher in microsatellite-unstable vs. microsatellite-stable tumors, whether sporadic or hereditary. Ki-67 expression mirrored the same pattern. Promoter methylation of the methyltransferase genes themselves was addressed as a possible cause behind their altered expression. While DNMT1 or EZH2 did not show differential methylation between normal and tumor tissues, DNMT3B analysis corroborated the regulatory role of a distal promoter region. Our study shows that methyltransferase expression in cancer depends on the tissue of origin, microsatellite-instability status, cellular proliferation, and-in the case of DNMT3B-promoter methylation of the respective gene. Translation of methyltransferase expression into DNA methylation appears complex as suggested by the fact that except for EZH2, no clear association between methyltransferase protein expression and TSG methylation was observed. © 2015 Wiley Periodicals, Inc. PMID:26305882

  6. Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome

    OpenAIRE

    Dallapiccola, Bruno; Mingarelli, Rita

    1995-01-01

    A sporadic patient with OFC syndrome is described. Distinguishing features were a long face with narrow nose, high arched palate, prominent and dysmorphic ears, long neck, sloping shoulders and clavicles, winged, low, and laterally set scapulae, tetralogy of Fallot, and deafness secondary to cochlear malformation. Some features present in the original family, including lateral cervical fistulae, have suggested that OFC syndrome could be a variant of BOR syndrome. The absence of preauricular t...

  7. New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background

    OpenAIRE

    Marocchi Alessandro; Patrosso Maria; Buscema Massimo; Penco Silvana; Grossi Enzo

    2008-01-01

    Abstract Background Few genetic factors predisposing to the sporadic form of amyotrophic lateral sclerosis (ALS) have been identified, but the pathology itself seems to be a true multifactorial disease in which complex interactions between environmental and genetic susceptibility factors take place. The purpose of this study was to approach genetic data with an innovative statistical method such as artificial neural networks to identify a possible genetic background predisposing to the diseas...

  8. Sporadic versus hereditary gastrinomas of the duodenum and pancreas: Distinct clinico-pathological and epidemiological features

    OpenAIRE

    Anlauf, Martin; Garbrecht, Nele; Henopp, Tobias; Schmitt, Anja; Schlenger, Regina; Raffel, Andreas; Krausch, Markus; Gimm, Oliver; Eisenberger, Claus F.; Knoefel, Wolfram T.; Dralle, Henning; Komminoth, Paul; Heitz, Philipp U; Perren, Aurel; Klöppel, Günter

    2006-01-01

    Gastrinomas are defined as gastrin secreting tumors that are associated with Zollinger-Ellison syndrome (ZES). ZES is characterized by elevated fasting gastrin serum levels, positive secretin stimulation test and clinical symptoms such as recurrent peptic ulcer disease, gastroesophageal reflux disease and occasional diarrhea. Genetically, nonhereditary (sporadic) gastrinomas are distinguished from hereditary gastrinomas, which are associated with multiple endocrine neoplasia type 1 (MEN1) syn...

  9. Terdiurnal signatures in sporadic E layers at midlatitudes

    OpenAIRE

    T. Fytterer; Arras, C.; Jacobi, C

    2013-01-01

    Global Positioning System radio occultation measurements by the FORMOsa SATellite mission-3/Constellation Observing System for Meteorology, Ionosphere and Climate satellites were used to analyse the behaviour of the signature of the terdiurnal tide in sporadic E (ES) layers at midlatitudes (43–63° N). According to theory, the occurrence of ES is expected when the vertical zonal wind shear, which is mainly owing to solar tides, is negative. 4 yr means, based on 3-monthly r...

  10. Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease

    OpenAIRE

    Pera, Marta; Alcolea, Daniel; Sánchez-Valle, Raquel; Guardia-Laguarta, Cristina; Colom-Cadena, Martí; Badiola, Nahuai; Suárez-Calvet, Marc; Lladó, Albert; Barrera-Ocampo, Alvaro A.; Sepulveda-Falla, Diego; Blesa, Rafael; Molinuevo, José L.; Clarimón, Jordi; Ferrer, Isidre; Gelpi, Ellen

    2012-01-01

    Autosomal-dominant Alzheimer disease (ADAD) is a genetic disorder caused by mutations in Amyloid Precursor Protein (APP) or Presenilin (PSEN) genes. Studies from families with ADAD have been critical to support the amyloid cascade hypothesis of Alzheimer disease (AD), the basis for the current development of amyloid-based disease-modifying therapies in sporadic AD (SAD). However, whether the pathological changes in APP processing in the CNS in ADAD are similar to those obser...

  11. Probing sporadic and familial Alzheimer’s disease using induced pluripotent stem cells

    OpenAIRE

    Israel, Mason A.; Yuan, Shauna H.; Bardy, Cedric; Reyna, Sol M.; Mu, Yangling; Herrera, Cheryl; Hefferan, Michael P.; Van Gorp, Sebastiaan; Nazor, Kristopher L; Boscolo, Francesca S.; Carson, Christian T; Louise C Laurent; Marsala, Martin; GAGE, FRED H.; Remes, Anne M

    2012-01-01

    Our understanding of Alzheimer’s disease pathogenesis is currently limited by difficulties in obtaining live neurons from patients and the inability to model the sporadic form of the disease. It may be possible to overcome these challenges by reprogramming primary cells from patients into induced pluripotent stem cells (iPSCs). Here we reprogrammed primary fibroblasts from two patients with familial Alzheimer’s disease, both caused by a duplication of the amyloid-? precursor protein gene1 (AP...

  12. Degree of Schedulability of Mixed-Criticality Real-time Systems with Probabilistic Sporadic Tasks

    DEFF Research Database (Denmark)

    Boudjadar, Jalil; David, Alexandre; Kim, Jin Hyun; Larsen, Kim Guldstrand; Nyman, Ulrik; Skou, Arne; Miku?ionis, Marius

    2014-01-01

    We present the concept of degree of schedulability for mixed-criticality scheduling systems. This concept is given in terms of the two factors 1) Percentage of Missed Deadlines (PoMD), and 2) Degradation of the Quality of Service (DoQoS). The novel aspect is that we consider task arrival patterns that follow user-defined continuous probability distributions. We determine the degree of schedulability of a single scheduling component which can contain both periodic and sporadic tasks using statist...

  13. Molecular Genetic Studies of Sporadic and MEN1-Associated Endocrine Pancreatic Tumors

    OpenAIRE

    Lindberg, Daniel

    2007-01-01

    Pancreatic endocrine tumors (PETs) may cause typical syndromes of hormone excess, or appear clinically non-functioning without hormonal symptoms. PETs occur sporadically, in association with the multiple endocrine neoplasia type 1 (MEN1) syndrome, or rarely the von Hippel-Lindau syndrome. Molecular genetic investigations may reveal pathways important for tumor development, and be of clinical use. The aim of this thesis was to investigate regulation of different genes involved in cell prolifer...

  14. Microvascular pathology and morphometrics of sporadic and hereditary small vessel diseases of the brain.

    Science.gov (United States)

    Craggs, Lucinda J L; Yamamoto, Yumi; Deramecourt, Vincent; Kalaria, Raj N

    2014-09-01

    Small vessel diseases (SVDs) of the brain are likely to become increasingly common in tandem with the rise in the aging population. In recent years, neuroimaging and pathological studies have informed on the pathogenesis of sporadic SVD and several single gene (monogenic) disorders predisposing to subcortical strokes and diffuse white matter disease. However, one of the limitations toward studying SVD lies in the lack of consistent assessment criteria and lesion burden for both clinical and pathological measures. Arteriolosclerosis and diffuse white matter changes are the hallmark features of both sporadic and hereditary SVDs. The pathogenesis of the arteriopathy is the key to understanding the differential progression of disease in various SVDs. Remarkably, quantification of microvascular abnormalities in sporadic and hereditary SVDs has shown that qualitatively the processes involved in arteriolar degeneration are largely similar in sporadic SVD compared with hereditary disorders such as cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Important significant regional differences in lesion location within the brain may enable one to distinguish SVDs, where frontal lobe involvement appears consistently with almost every SVD, but others bear specific pathologies in other lobes, such as the temporal pole in CADASIL and the pons in pontine autosomal dominant microangiopathy and leukoencephalopathy or PADMAL. Additionally, degenerative changes in the vascular smooth muscle cells, the cerebral endothelium and the basal lamina are often rapid and more aggressive in genetic disorders. Further quantification of other microvascular elements and even neuronal cells is needed to fully characterize SVD pathogenesis and to differentiate the usefulness of vascular interventions and treatments on the resulting pathology. PMID:25323665

  15. Four new species of Dolichopoda Bolivar, 1880 from Southern Sporades and Western Turkey (Orthoptera, Rhaphidophoridae, Dolichopodainae)

    OpenAIRE

    Mauro Rampini; Claudio Di Russo; Mehmet Taylan; Arianna Gelosa; Marina Cobolli

    2012-01-01

    A description of four new species of Dolichopoda Bolivar, 1880 (Orthoptera, Rhaphidophoridae) from Eastern Aegean region (Southern Sporades), including Western Turkey, is reported. This brings to a total of 11 the number of Dolichopoda species recorded for caves of the Aegean area. Overall, these species show a high degree of morphological homogeneity and they are very close to Dolichopoda paraskevi Boudou-Saltet, 1973 from Crete and Dolichopoda naxia Boudou-Saltet, 1972 from Cyclades (Naxos ...

  16. Lines identification in the emission spectrum and orbital elements of a sporadic video meteor

    Science.gov (United States)

    Madiedo, J. M.; Zamorano, J.; Ocaña, F.; Izquierdo, J.; Sanchez de Miguel, A.; Trigo-Rodriguez, J. M.; Toscano, F. M.

    2011-10-01

    Since 2006 the SPanish Meteor Network (SPMN) employs high-sensitivity CCD video cameras to monitor meteor and fireball activity over the Iberian Peninsula and neighboring areas. These allow us to obtain the trajectory and orbit for multi-station events and, when combined with holographic diffraction gratings, also provide information about the chemical composition of the corresponding meteoroids. In this context, we analyze here the emission spectrum, trajectory and orbital parameters of a sporadic bolide imaged on 2010.

  17. Height and critical frequency variations of the sporadic-E layer at midlatitudes.

    Czech Academy of Sciences Publication Activity Database

    Šauli, Petra; Bourdillon, A.

    2008-01-01

    Ro?. 70, ?. 15 (2008), s. 1904-1910. ISSN 1364-6826 R&D Projects: GA AV ?R IAA300420704 Grant ostatní: European Union(XE) COST 296 Institutional research plan: CEZ:AV0Z30420517 Keywords : Sporadic E * Planetary wave s * Tidal wave s * Mid-latitude ionosphere * Wave let transform Subject RIV: DG - Athmosphere Sciences, Meteorology Impact factor: 1.667, year: 2008

  18. Hospital Admissions, Biological Therapy, and Surgery in Familial and Sporadic Cases of Inflammatory Bowel Disease

    DEFF Research Database (Denmark)

    Trier Moller, Frederik; Andersen, Vibeke; Andersson, Mikael; Jess, Tine

    2015-01-01

    BACKGROUND: Easily accessible predictors of disease course in inflammatory bowel disease (IBD) are scarce, and it remains largely unknown whether a family history of IBD predicts the course of Crohn's disease (CD) and ulcerative colitis (UC). We aimed to compare the course of disease in familial and sporadic cases of IBD in a nationwide cohort study. METHODS: From national registries, covering a population of 8,295,773 individuals, we obtained information on date and year of diagnosis of IBD cas...

  19. EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

    OpenAIRE

    Bovée, J V; Cleton-Jansen, A.M.; W. Wuyts; Caethoven, G; Taminiau, A. H.; Bakker, E.; Hul, W. Van; Cornelisse, C.J.; Hogendoorn, P. C.

    1999-01-01

    Osteochondromas occur as sporadic solitary lesions or as multiple lesions, characterizing the hereditary multiple exostoses syndrome (EXT). Approximately 15% of all chondrosarcomas arise within the cartilaginous cap of an osteochondroma. EXT is genetically heterogeneous, and two genes, EXT1 and EXT2, located on 8q24 and 11p11-p12, respectively, have been cloned. It is still unclear whether osteochondroma is a developmental disorder or a true neoplasm. Furthermore, it is unclear whether inacti...

  20. Exon dosage analysis of parkin gene in Chinese sporadic Parkinson's disease.

    Science.gov (United States)

    Guo, Ji-Feng; Dong, Xiao-Li; Xu, Qian; Li, Nan; Yan, Xin-Xiang; Xia, Kun; Tang, Bei-Sha

    2015-09-14

    Parkin gene mutations are by far the most common mutations in both familial Parkinson's disease (PD) and sporadic PD. Approximately, 50% of parkin mutations is exon dosage mutations (i.e., deletions and duplications of entire exons). Here, we first established a MLPA assay for quick detection of parkin exon rearrangements. Then, we studied parkin exon dosage mutations in 755 Chinese sporadic PDdisease patients using the established MLPA assay. We found that there were 25 (3.3%) patients with exon dosage alterations including deletions and duplications, 20 (11.4%) patients with exon rearrangements in 178 early-onset patients, and 5 (0.86%) patients with exon rearrangement mutations in 579 later-onset patients. The percentage of individuals with parkin dosage mutations is more than 33% when the age at onset is less than 30 years old, but less than 7% when the age at onset is more than 30. In these mutations, deletion is the main mutational style, especially in exon 2-5. Our results indicated that exon dosage mutations in parkin gene might be the main cause for sporadic PD, especially in EOP. PMID:26240990

  1. De Novo Copy Number Variants Identify New Genes and Loci in Isolated, Sporadic Tetralogy of Fallot

    Science.gov (United States)

    Greenway, Steven C; Pereira, Alexandre C; Lin, Jennifer C; DePalma, Steven R; Israel, Samuel J; Mesquita, Sonia M; Ergul, Emel; Conta, Jessie R; Korn, Joshua M; McCarroll, Steven A; Gorham, Joshua M; Gabriel, Stacey; Altshuler, David A; de Lourdes Quintanilla-Dieck, Maria; Artunduaga, Maria Alexandra; Eavey, Roland D; Plenge, Robert M; Shadick, Nancy A; Weinblatt, Michael E; De Jager, Philip L; Hafler, David A; Breitbart, Roger E; Seidman, J G; Seidman, Christine E

    2009-01-01

    Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. A genome-wide survey of 114 TOF patients and their unaffected parents identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. A second, independent TOF cohort (n = 398) was then examined for additional CNVs at these loci. In 1% (5/512, p = 0.0002, OR = 22.3) of non-syndromic sporadic TOF cases we identified CNVs at chromosome 1q21.1. Recurrent CNVs were also identified at 3p25.1, 7p21.3 and 22q11.2. CNVs in a single TOF case occurred at six loci, two that encode known (NOTCH1, JAG1) disease genes. Our data predicts that at least 10% (4.5–15.5, 95% CI) of sporadic, non-syndromic TOF reflects de novo CNVs and implicates mutations within these loci as etiologic in other cases of TOF. PMID:19597493

  2. Genetic analysis of noroviruses associated with sporadic gastroenteritis during winter in Guangzhou, China.

    Science.gov (United States)

    Xue, Liang; Wu, Qingping; Dong, Ruimin; Kou, Xiaoxia; Li, Yonglai; Zhang, Jumei; Guo, Weipeng

    2013-10-01

    Noroviruses are regarded as the major causes of acute gastroenteritis worldwide, but their prevalence in sporadic diarrhea in South China remains unclear. This study was performed to characterize the genotypes of circulating norovirus strains associated with sporadic diarrhea cases in Guangzhou from November 2010 to January 2011. Among fecal specimens collected from 89 patients with acute diarrhea, nine samples (10.11%) were norovirus positive and 32 samples (35.96%) were rotavirus positive. The partial polymerase and the capsid regions of these norovirus samples were sequenced and phylogenetically analyzed. Three genotypes (GII.4, GII.6, and GII.b/GII.3) were identified, among which GII.4-2006b was the most predominant genotype (4/9, 44.4%), followed by GII.6 (3/9, 33.3%). A novel GII.4-2010 variant was first detected in China. Furthermore, the near full-length genome of the GZ2010-L26 strain, which belonged to GII.4-2006b, was sequenced and analyzed. Thus, the results of this study suggested that, second to rotavirus, noroviruses are the important pathogens responsible for sporadic acute gastroenteritis during winter in Guangzhou, and the GII.4-2006b variant remains the predominant genotype. PMID:23947818

  3. Extensive Genetic Diversity Identified among Sporadic Methicillin-Resistant Staphylococcus aureus Isolates Recovered in Irish Hospitals between 2000 and 2012

    OpenAIRE

    Kinnevey, Peter M.; Shore, Anna C.; Brennan, Grainne I.; Derek J. Sullivan; Ehricht, Ralf; Monecke, Stefan; Coleman, David C.

    2014-01-01

    Clonal replacement of predominant nosocomial methicillin-resistant Staphylococcus aureus (MRSA) strains has occurred several times in Ireland during the last 4 decades. However, little is known about sporadically occurring MRSA in Irish hospitals or in other countries. Eighty-eight representative pvl-negative sporadic MRSA isolates recovered in Irish hospitals between 2000 and 2012 were investigated. These yielded unusual pulsed-field gel electrophoresis and antibiogram-resistogram typing pat...

  4. Promoter methylation and expression changes of BRCA1 in cancerous tissues of patients with sporadic breast cancer

    OpenAIRE

    LI, QIUYUN; Wei, Wei; JIANG, YI; Yang, Huawei; Liu, Jianlun

    2015-01-01

    BRCA1 is a susceptibility gene that has a genetic predisposition for breast cancer. BRCA1 gene mutation is closely associated with familial hereditary breast cancer, but the BRCA1 gene mutation is rarely found in sporadic breast cancer. According to previous studies, decreased expression of BRCA1 was detected in certain types of sporadic breast cancer. Aberrant methylation of DNA promoter CpG islands is one of the mechanisms by which tumor suppressor gene expression and function is lost. The ...

  5. Physico-chemical properties of sporadic meteoroids inferred from de continuous monitoring of meteor and fireball activity

    OpenAIRE

    González Reina, L. A.; Madiedo Gil, José María; Trigo Rodríguez, Josep María; Toscano, F. M.

    2013-01-01

    Sporadic meteoroids make up the bulk of the meteoroids striking the Earth. The combined action of gravitational and radiation forces have reduced the coherence of the initial orbits of these particles to such a degree that they have become so diffuse as to be no longer recognizable as streams and merge them together into the sporadic meteoroid complex. The development of a continuous meteor and fireball monitoring campaign is fundamental to characterize the physico-...

  6. TP53 Codon 72 Heterozygosity May Promote MicrosatelliteInstability in Sporadic Colorectal Cancer

    Directory of Open Access Journals (Sweden)

    Mehdi Nikbahkt Dastjerdi

    2010-01-01

    Full Text Available Objective: The polymorphic variants at codon 72 of the p53 gene, encoding prolineor arginine at residue 72, produce marked changes in the p53 structure. From theevidence that the DNA mismatch repair system and p53 interact to maintain genomicintegrity, we hypothesized that codon 72 variations may influence the prevalence ofmicrosatellite instability (MSI, a feature of malignancies associated with mismatchrepair deficiency in sporadic colorectal cancer.Materials and Methods: We investigated the frequency of MSI in three P53 codon72 genotypes using genomic DNAs from 144 paraffin blocks of sporadic colorectaladenocarcinomas by testing the BAT-26 poly(A marker. We used PCR-SSCP analysisto detect tumor sample MSI for the nonisotopic detection of deletions in the BAT-26 poly (A mononucleotide repeat. Associations between qualitative variables wereevaluated using the ?2-test. Statistical significance level was set to p ? 0.05.Results: MSI analysis revealed that 24.3% of the tumors (n=35 were MSI-positiveand 75.7% (n=109 were MSI-negative. The frequency of microsatellite instability inthe arginine/arginine, arginine/proline and proline/proline genotypes were 11 (16.9%,22 (36.1% and 2 (11.1% respectively. A significant difference in distribution of MSIwas found for the arginine/proline genotype compared with the grouped arginine/arginineand proline/proline genotypes (p=0.05.Conclusion: Our findings suggested that colorectal adenocarcinomas arising in individualswith the p53 codon 72 arginine/proline heterozygosity are more prone tomicrosatellite instability than those with other p53 genotypes. In our study, MSI wasimportant in the carcinogenesis of sporadic colorectal cancer arising in pro/arg heterozygotes.

  7. Sporadic Burkitt Lymphoma Mimicking Osteomyelitis of the Mandible Revealing Clinically Unsuspected HIV Infection.

    Science.gov (United States)

    Sivolella, Stefano; Rizzo, Giovanni; Valente, Marialuisa; Lumachi, Franco

    2015-09-01

    Adult sporadic Burkitt lymphoma is a rare and highly aggressive malignancy, accounting for approximately 1-2% of adult lymphomas in Western countries, and exclusively intra-oral localization is very uncommon. We describe a rare case of a moderately painful sporadic Burkitt lymphoma localized in the posterior third of the left mandibular bone, initially misdiagnosed as osteomyelitis-like lesion, in a patient Epstein-Barr virus infection-negative with unknown human immunodeficiency virus (HIV) positivity and acquired immunodeficiency syndrome. A 52-year-old man was referred to our Department complaining of persistent moderate pain localized in the left mandibular arch. According to clinical and radiological features, a diagnosis of post-extraction osteomyelitis was made and a surgical revision, including soft and hard tissue biopsy, was performed. Histopathology revealed the presence of a diffuse proliferation of lymphoid cells, exhibiting the typical 'starry-sky' appearance that was consistent with the diagnosis of B-type non-Hodgkin lymphoma. Unexpectedly, HIV seropositivity was also found, but the patient was unaware of this, and the history did not reveal any particular risk factor for HIV infection. Positron-emission tomography showed a highly (18)F-fluorodeoxyglucose-avid mass in the left maxillofacial region and extensive disease in bone marrow and mediastinum. Thus, the patient was referred to our onco-hematological team for final assessment and care. In conclusion, sporadic Burkitt lymphoma is an aggressive malignancy, which rarely affects adults with initial intra-oral manifestations. In the presence of abnormal gingival or alveolar lesions, a non-odontogenic disease should be suspected and the appropriate diagnostic test should be performed. PMID:26254375

  8. Inter-decadal variability of Sporadic-E layer at Argentine Islands, Antarctica?

    Directory of Open Access Journals (Sweden)

    A. J. Foppiano

    2008-07-01

    Full Text Available The diurnal variations of Sporadic-E layer (Es occurrence and of various Es characteristics over Argentine Islands (65.3oS; 64.3oW have been determined for autumn, winter, spring and summer during both low and high solar activity level for solar cycles 21, 22 and 23. Although identical equipments were used only for cycles 22 and 23, an attempt is made to identify possible inter-decadal variations, which seem to have been documented for other locations. There seems to be true inter-cycle differences at least for some Es types during winter.

  9. Clinicopathological features of pancreatic endocrine tumors: a prospective multicenter study in Italy of 297 sporadic cases.

    OpenAIRE

    Dogliotti, Luigi

    2010-01-01

    Newly diagnosed, histologically proven, sporadic PETs observed from June 2004 to March 2007 in 24 Italian centers were included in a specific data set. RESULTS: Two hundred ninety-seven patients (mean age 58.6+/-14.7 years, females 51.2%, males 48.8%) were analyzed. In 73 cases (24.6%), the tumor was functioning (F) (53 insulinomas, 15 gastrinomas, 5 other syndromes) and in 232 (75.4%) it was non-functioning (NF); in 115 cases (38.7%), the diagnosis was incidental. The median tumor size w...

  10. New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background

    Directory of Open Access Journals (Sweden)

    Marocchi Alessandro

    2008-05-01

    Full Text Available Abstract Background Few genetic factors predisposing to the sporadic form of amyotrophic lateral sclerosis (ALS have been identified, but the pathology itself seems to be a true multifactorial disease in which complex interactions between environmental and genetic susceptibility factors take place. The purpose of this study was to approach genetic data with an innovative statistical method such as artificial neural networks to identify a possible genetic background predisposing to the disease. A DNA multiarray panel was applied to genotype more than 60 polymorphisms within 35 genes selected from pathways of lipid and homocysteine metabolism, regulation of blood pressure, coagulation, inflammation, cellular adhesion and matrix integrity, in 54 sporadic ALS patients and 208 controls. Advanced intelligent systems based on novel coupling of artificial neural networks and evolutionary algorithms have been applied. The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis Results Advanced intelligent systems based on novel coupling of artificial neural networks and evolutionary algorithms have been applied. The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis. An unexpected discovery of a strong genetic background in sporadic ALS using a DNA multiarray panel and analytical processing of the data with advanced artificial neural networks was found. The predictive accuracy obtained with Linear Discriminant Analysis and Standard Artificial Neural Networks ranged from 70% to 79% (average 75.31% and from 69.1 to 86.2% (average 76.6% respectively. The corresponding value obtained with Advanced Intelligent Systems reached an average of 96.0% (range 94.4 to 97.6%. This latter approach allowed the identification of seven genetic variants essential to differentiate cases from controls: apolipoprotein E arg158cys; hepatic lipase -480 C/T; endothelial nitric oxide synthase 690 C/T and glu298asp; vitamin K-dependent coagulation factor seven arg353glu, glycoprotein Ia/IIa 873 G/A and E-selectin ser128arg. Conclusion This study provides an alternative and reliable method to approach complex diseases. Indeed, the application of a novel artificial intelligence-based method offers a new insight into genetic markers of sporadic ALS pointing out the existence of a strong genetic background.

  11. Analysis of wave-like oscillations in parameters of sporadic E layer and neutral atmosphere.

    Czech Academy of Sciences Publication Activity Database

    Mošna, Zbyšek; Koucká Knížová, Petra

    90-91, SI (2012), s. 172-178. ISSN 1364-6826. [IAGA/ICMA/CAWSES-II TG4 Workshop on Vertical Coupling in the Atmosphere-Ionosphere System /4./. Prague, 14.02.2011-18.02.2011] R&D Projects: GA AV ?R IAA300420704 Institutional support: RVO:68378289 Keywords : Sporadic E * Planetary waves * Tidal waves * Mid-latitude ionosphere Subject RIV: DG - Athmosphere Sciences, Meteorology Impact factor: 1.417, year: 2012 http://www.sciencedirect.com/science/article/pii/S1364682612001186

  12. Evidence for a dopaminergic deficit in sporadic amyotrophic lateral sclerosis on positron emission scanning

    International Nuclear Information System (INIS)

    Although rare, the chronic neurodegenerative disorders amyotrophic lateral sclerosis (ALS) and idiopathic parkinsonism coexist to a greater degree than expected by chance. This suggests that patients with ALS may have subclinical lesions of the nigrostriatal dopaminergic pathway. To study this hypothesis, the authors did positron emission tomography with 6-fluorodopa on 16 patients with sporadic ALS and without extrapyramidal disease, and compared the results with age-matched controls. They found a significant progressive fall in 6-fluorodopa uptake with time since diagnosis, and reduced dopaminergic function in 3 patients with ALS of long duration. This supports the hypothesis that ALS and IP may share pathogenesis, and, perhaps, etiology

  13. Evidence for a dopaminergic deficit in sporadic amyotrophic lateral sclerosis on positron emission scanning

    Energy Technology Data Exchange (ETDEWEB)

    Takahashi, Hirohide; Snow, B.J.; Bhatt, M.H.; Peppard, R.; Eisen, A.; Calne, D.B. (Univ. of British Columbia, Vancouver (Canada))

    1993-10-23

    Although rare, the chronic neurodegenerative disorders amyotrophic lateral sclerosis (ALS) and idiopathic parkinsonism coexist to a greater degree than expected by chance. This suggests that patients with ALS may have subclinical lesions of the nigrostriatal dopaminergic pathway. To study this hypothesis, the authors did positron emission tomography with 6-fluorodopa on 16 patients with sporadic ALS and without extrapyramidal disease, and compared the results with age-matched controls. They found a significant progressive fall in 6-fluorodopa uptake with time since diagnosis, and reduced dopaminergic function in 3 patients with ALS of long duration. This supports the hypothesis that ALS and IP may share pathogenesis, and, perhaps, etiology.

  14. Astrocytes from Familial and Sporadic ALS Patients are Toxic to Motor Neurons

    OpenAIRE

    Haidet-Phillips, Amanda M.; Hester, Mark E.; Miranda, Carlos J.; Meyer, Kathrin; Braun, Lyndsey; Frakes, Ashley; Song, SungWon; Likhite, Shibi; Murtha, Matthew J; Foust, Kevin D.; Rao, Meghan; Eagle, Amy; Kammesheidt, Anja; Christensen, Ashley; Mendell, Jerry R

    2011-01-01

    Amyotrophic Lateral Sclerosis (ALS) is a fatal motor neuron (MN) disease with astrocytes implicated as a significant contributor to MN death in familial ALS (fALS)1–5. However, these conclusions, in part, derive from rodent models of fALS based upon dominant mutations within the superoxide dismutase 1 (SOD1) gene which account for less than 2% of all ALS cases2, 4, 5. Here, we generated astrocytes from post-mortem tissue from both fALS and sporadic ALS (sALS) patients, and show that astrocyte...

  15. Risk factors for sporadic infection with Salmonella Enteritidis, Denmark, 1997-1999

    DEFF Research Database (Denmark)

    Mølbak, Kåre; Neimann, Jacob

    2002-01-01

    In a prospective case-control study of sporadic Salmonella Enteritidis infection in Denmark (1997-1999), foreign travel was reported by 25% of 455 case patients and 8% of 507 controls (odds ratio (OR) = 3.7, 95% confidence interval (CI): 2.4, 5.5). Among nontravelers, 80% of 335 cases and 81% of 467 controls had consumed eggs or dishes containing raw or undercooked eggs during the week before disease onset or interview, while 35% of cases and 19% of controls had incurred this exposure the day be...

  16. Myopathy in a rhesus monkey with biopsy findings similar to human sporadic inclusion body myositis.

    Science.gov (United States)

    Skuk, Daniel; Goulet, Marlyne; Paradis, Martin; Tremblay, Jacques P

    2013-02-01

    A rhesus macaque with generalized muscle atrophy and musculotendinous contractures was detected in our research center. Muscle biopsies showed myofibers with rimmed vacuoles and eosinophilic hyaline inclusions, accumulations of CD8+ and CD4+ lymphocytes and expression of major histocompatibility complex class I in myofibers. Intracellular inclusions were positive to Congo red. Semithin sections and transmission electron microscopy showed autophagic vacuoles within myofibers and myonuclei with inclusions of filaments. These morphological observations conform with the diagnostic criteria of human sporadic inclusion body myositis. This is the first report of this myopathy in nonhuman primates. PMID:23200905

  17. Energetics and structure of the lower E region associated with sporadic E layer

    OpenAIRE

    K.-I. Oyama; K. Hibino; Abe, T.; Pfaff, R.; Yokoyama, T.; Liu, J.Y.

    2008-01-01

    The electron temperature (Te), electron density (Ne), and two components of the electric field were measured from the height of 90 km to 150 km by one of the sounding rockets launched during the SEEK-2 campaign. The rocket went through sporadic E layer (Es) at the height of 102 km–109 km during ascent and 99 km–108 km during decent, respectively. The energy density of ...

  18. Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations

    OpenAIRE

    Soblet, J.; Limaye, N.; Uebelhoer, M.; Boon, L. M.; Vikkula, M.

    2013-01-01

    Venous malformations (VMs) are the most frequent vascular malformations referred to specialized vascular anomaly centers. A rare (1-2%) familial form, termed cutaneomucosal venous malformation (VMCM), is caused by gain-of-function mutations in TIE2. More recently, sporadic VMs, characterized by the presence of large unifocal lesions, were shown to be caused by somatic mutations in TIE2. These include a frequent L914F change, and a series of double mutations in cis. All of which cause ligand-i...

  19. Degree of Schedulability of Mixed-Criticality Real-time Systems with Probabilistic Sporadic Tasks

    DEFF Research Database (Denmark)

    Boudjadar, Jalil; David, Alexandre

    2014-01-01

    We present the concept of degree of schedulability for mixed-criticality scheduling systems. This concept is given in terms of the two factors 1) Percentage of Missed Deadlines (PoMD), and 2) Degradation of the Quality of Service (DoQoS). The novel aspect is that we consider task arrival patterns that follow user-defined continuous probability distributions. We determine the degree of schedulability of a single scheduling component which can contain both periodic and sporadic tasks using statistical model checking in the form of UPPAAL SMC. We support uniform, exponential, Gaussian and any user-defined probability distribution.

  20. A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features

    Directory of Open Access Journals (Sweden)

    Fernandez Bridget A

    2012-08-01

    Full Text Available Abstract Background Idiopathic pulmonary fibrosis (IPF is an adult-onset Idiopathic Interstitial Pneumonia (IIP usually diagnosed between age 50 to 70?years. Individuals with Familial Pulmonary Fibrosis (FPF have at least one affected first or second-degree relative and account for 0.5-20% of cases. Methods We ascertained and collected DNA samples from a large population-based cohort of IPF patients from Newfoundland, Canada. For each proband, a family history was documented and medical records were reviewed. Each proband was classified as familial (28 patients or sporadic (50 patients and all 78 probands were screened for variants in four highly penetrant, adult-onset PF genes (SFTPC, SFTPA2, TERT,TERC. Results Seventy-eight IPF probands were enrolled of whom 28 (35.9% had a positive family history. These 28 familial patients led to the recruitment of an additional 49 affected relatives (total of 77 FPF patients. By age 60?years, 42% of the familial cohort had been diagnosed with PF compared with only 16% of the sporadic patient collection (?2?=?8.77, p?=?0.003. Mean age of diagnosis in the familial group was significantly younger than the sporadic group (61.4?years vs. 66.6?yrs, p?=?0.012 with a wider age range of diagnosis (19–92?years compared with 47–82?years. Thirty-three of 77 (42.8% FPF patients had a tissue diagnosis and all but five had usual interstitial pneumonia histology. Compared with other published case series, the familial IIP histologies were more homogeneous. Three of 28 familial probands (10.7% and none of the 50 sporadic probands had pathogenic variants in the four genes tested. All three familial probands had mutations in TERT. Other phenotypes associated with telomerase deficiency were present in these families including cirrhosis, bone marrow hypoplasia and premature graying. Telomere length assays were performed on mutation carriers from two families and confirmed telomere-related deficiency. Conclusion The proportion of familial cases in our cohort is higher than any previously reported estimate and we suggest that this is due to the fact that Newfoundland cohort is ethnically homogeneous and drawn from a founder population. In our patient collection, diagnosis with IPF prior to age 45?years predicted familial disease. In two of the three TERT mutation families, the pedigree appearance is consistent with genetic anticipation. In the other 25 FPF families negative for mutations in known PF genes, we did not identify other telomerase associated medical problems (bone marrow dysfunction, cirrhosis and we hypothesize that there are novel PF genes segregating in our population.

  1. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.

    LENUS (Irish Health Repository)

    Gbadegesin, Rasheed A

    2012-01-01

    Focal and segmental glomerulosclerosis (FSGS) is a major cause of end-stage kidney disease. Recent advances in molecular genetics show that defects in the podocyte play a major role in its pathogenesis and mutations in inverted formin 2 (INF2) cause autosomal dominant FSGS. In order to delineate the role of INF2 mutations in familial and sporadic FSGS, we sought to identify variants in a large cohort of patients with FSGS. A secondary objective was to define an approach for genetic screening in families with autosomal dominant disease. A total of 248 individuals were identified with FSGS, of whom 31 had idiopathic disease. The remaining patients clustered into 64 families encompassing 15 from autosomal recessive and 49 from autosomal dominant kindreds. There were missense mutations in 8 of the 49 families with autosomal dominant disease. Three of the detected variants were novel and all mutations were confined to exon 4 of INF2, a regulatory region responsible for 90% of all changes reported in FSGS due to INF2 mutations. Thus, in our series, INF2 mutations were responsible for 16% of all cases of autosomal dominant FSGS, with these mutations clustered in exon 4. Hence, screening for these mutations may represent a rapid, non-invasive and cost-effective method for the diagnosis of autosomal dominant FSGS.

  2. Multi-layer structure of mid-latitude sporadic-E observed during the SEEK-2 campaign

    Directory of Open Access Journals (Sweden)

    T. Ono

    2005-10-01

    Full Text Available In the mid-latitude ionospheric region, sporadic-E layers (Es layers have often been observed, revealing multiple layers. The Es layers observed during the SEEK-2 rocket campaign showed double electron density peaks; namely, there are stable lower peaks and relatively unstable upper peaks. We examined the effects of wind shear and the electric fields on the generation of the multiple layer structure, in comparison with the electron density profile, the neutral wind, and the DC electric field observed by the S310 rocket experiments. The results showed that the neutral wind shear is mainly responsible for the generation of the lower layer, while the DC electric field makes a significant contribution to the formation of the upper layer. The difference between the lower and upper layers was also explained by the enhanced AC electric field observed at about 103–105 km altitude. The external DC electric field intensity is expected to be ~5 mV/m, which is enough to contribute to generate the Es layers in the ionosphere. Keywords. Ionosphere (Electric fields; Ionospheric irregularities, Mid-latitude ionosphere

  3. Selenofuranoside Ameliorates Memory Loss in Alzheimer-Like Sporadic Dementia: AChE Activity, Oxidative Stress, and Inflammation Involvement

    Science.gov (United States)

    Chiapinotto Spiazzi, Cristiano; Bucco Soares, Melina; Pinto Izaguirry, Aryele; Musacchio Vargas, Laura; Zanchi, Mariane Magalhães; Frasson Pavin, Natasha; Ferreira Affeldt, Ricardo; Seibert Lüdtke, Diogo; Prigol, Marina; Santos, Francielli Weber

    2015-01-01

    Alzheimer's disease (AD) is becoming more common due to the increase in life expectancy. This study evaluated the effect of selenofuranoside (Se) in an Alzheimer-like sporadic dementia animal model. Male mice were divided into 4 groups: control, A?, Se, and A? + Se. Single administration of A? peptide (fragments 25–35; 3?nmol/3??L) or distilled water was administered via intracerebroventricular (i.c.v.) injection. Selenofuranoside (5?mg/kg) or vehicle (canola oil) was administered orally 30?min before A? and for 7 subsequent days. Memory was tested through the Morris water maze (MWM) and step-down passive-avoidance (SDPA) tests. Antioxidant defenses along with reactive species (RS) were assessed. Inflammatory cytokines levels and AChE activity were measured. SOD activity was inhibited in the A? group whereas RS were increased. AChE activity, GSH, and IL-6 levels were increased in the A? group. These changes were reflected in impaired cognition and memory loss, observed in both behavioral tests. Se compound was able to protect against memory loss in mice in both behavioral tests. SOD and AChE activities as well as RS and IL-6 levels were also protected by Se administration. Therefore, Se is promising for further studies. PMID:26090073

  4. Performance of D-criteria in isolating meteor showers from the sporadic background in an optical data set

    CERN Document Server

    Moorhead, Althea V

    2015-01-01

    Separating meteor showers from the sporadic meteor background is critical for the study of both showers and the sporadic complex. The linkage of meteors to meteor showers, to parent bodies, and to other meteors is done using measures of orbital similarity. These measures often take the form of so-called D-parameters and are generally paired with some cutoff value within which two orbits are considered related. The appropriate cutoff value can depend on the size of the data-set (Southworth & Hawkins 1963), the sporadic contribution within the observed size range (Jopek 1995), or the inclination of the shower (Galligan 2001). If the goal is to minimize sporadic contamination of the extracted shower, the cutoff value should also reflect the strength of the shower compared to the local sporadic background. In this paper, we present a method for determining, on a per-shower basis, the orbital similarity cutoff value that corresponds to a chosen acceptable false-positive rate. This method also assists us in dis...

  5. The survival of patients with Stage III Colon Cancer is improved in HNPCC compared with sporadic cases. A Danish registry based study

    DEFF Research Database (Denmark)

    Brixen, Line Merrild; Bernstein, Inge Thomsen; Bülow, Steffen; Ehrnrooth, Eva

    2013-01-01

    AIM: Patients with hereditary non-polyposis colorectal cancer (HNPCC) seem to have a better prognosis than those with sporadic colon cancer (CC)s. The aim was to compare survival after stage III CC in patients with HNPCC with those having sporadic CC. METHOD: 230 patients with hereditary cancer from The Danish HNPCC-Register and 3557 patients with sporadic CC from The Danish Colorectal Cancer Database, diagnosed during May 2001-December 2008 were included. HNPCC patients were classified accordin...

  6. Clinical characteristics and risk factors of sporadic Hepatitis E in central China

    Directory of Open Access Journals (Sweden)

    Xia Ningshao

    2011-04-01

    Full Text Available Abstract Background Epidemiological investigations, detections and vaccines of hepatitis E (HE have been paid a focus of attention in prior studies, while studies on clinical features and risk factors with a large number of sporadic HE patients are scarce. Results Sporadic HE can occur throughout the year, with the highest incidence rate in the first quarter of a year, in central of China. Of the 210 patients, 85.2% were male, and the most common clinical symptoms were jaundice (85.7%, fatigue (70.5% and anorexia (64.8%. Total bilirubin (TBil, blood urea nitrogen (BUN, and international normalized ratio (INR were found as major risk factors for death of HE patients. There was an overall mortality of 10%, and the mortality in the cirrhotic and non-cirrhotic group was 25% and 6.47%, respectively. Moreover, hepatitis E virus (HEV infected patients with liver cirrhosis had a higher mortality and incidence of complications. Conclusions TBil, BUN, and INR are major risk factors of mortality for HE. Liver cirrhosis can aggravate HE, and lead to a higher mortality. HEV infection can cause decompensation in patients with cirrhosis, as evidenced by a worsening Child-Pugh score.

  7. Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

    Science.gov (United States)

    Lal, Dennis; Pernhorst, Katharina; Klein, Karl Martin; Reif, Philipp; Tozzi, Rossana; Toliat, Mohammad R; Winterer, Georg; Neubauer, Bernd; Nürnberg, Peter; Rosenow, Felix; Becker, Felicitas; Lerche, Holger; Kunz, Wolfram S; Kurki, Mitja I; Hoffmann, Per; Becker, Albert J; Perucca, Emilio; Zara, Federico; Sander, Thomas; Weber, Yvonne G

    2015-09-01

    Partial deletions of the RBFOX1 gene encoding the neuronal splicing regulator have been reported in a range of neurodevelopmental diseases including idiopathic/genetic generalized epilepsy (IGE/GGE), childhood focal epilepsy, and self-limited childhood benign epilepsy with centrotemporal spikes (BECTS, rolandic epilepsy), and autism. The protein regulates alternative splicing of many neuronal transcripts involved in the homeostatic control of neuronal excitability. Herein, we examined whether structural deletions affecting RBFOX1 exons confer susceptibility to common forms of juvenile and adult focal epilepsy syndromes. We screened 807 unrelated patients with sporadic focal epilepsy, and we identified seven hemizygous exonic RBFOX1 deletions in patients with sporadic focal epilepsy (0.9%) in comparison to one deletion found in 1,502 controls. The phenotypes of the patients carrying RBFOX1 deletions comprise magnetic resonance imaging (MRI)-negative epilepsy of unknown etiology with frontal and temporal origin (n = 5) and two patients with temporal lobe epilepsy with hippocampal sclerosis. The epilepsies were largely pharmacoresistant but not associated with intellectual disability. Our study extends the phenotypic spectrum of RBFOX1 deletions as a risk factor for focal epilepsy and suggests that exonic RBFOX1 deletions are involved in the broad spectrum of focal and generalized epilepsies. PMID:26174448

  8. DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

    Scientific Electronic Library Online (English)

    Osorio, Abath Neto; Cristiane de Araújo, Martins; Mary, Carvalho; Gerson, Chadi; Katia Werneck, Seitz; Acary Souza Bulle, Oliveira; Umbertina Conti, Reed; Jocelyn, Laporte; Edmar, Zanoteli.

    2015-06-01

    Full Text Available Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. The disease is clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset mild muscle weakness, and can have multiple modes o [...] f inheritance in association with various genes, including MTM1, DNM2, BIN1 and RYR1. Here we analyzed 18 sporadic patients with clinical and histological diagnosis of CNM and sequenced the DNM2 gene, which codes for the dynamin 2 protein. We found DNM2 missense mutations in two patients, both in exon 8, one known (p.E368K) and one novel (p.F372C), which is found in a position of presumed pathogenicity and appeared de novo. The patients had similar phenotypes characterized by neonatal signs followed by improvement and late childhood reemergence of slowly progressive generalized muscle weakness, elongated face with ptosis and ophthalmoparesis, and histology showing fibers with radiating sarcoplasmic strands (RSS). These patients were the only ones in the series to present this histological marker, which together with previous reports in the literature suggest that, when RSS are present, direct sequencing of DNM2 mutation hot spot regions should be the first step in the molecular diagnosis of CNM, even in sporadic cases.

  9. "Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes

    Directory of Open Access Journals (Sweden)

    Rafati Maryam

    2012-01-01

    Full Text Available Abstract Background Interstitial Microdeletion and Microduplication syndromes have been proposed as a significant cause of sporadic intellectual disability (ID but the role of such aberrations in familial ID has not yet been investigated. As the balanced chromosomal abnormalities commonly lead to the recurrent ID or multiple congenital anomalies, this study was designed to evaluate whether it was justified to investigate such aberrations in familial ID patients. Three hundred and twenty eight patients from 101 unrelated Iranian families with more than two ID patients in the first-degree relatives, have been investigated. Assessment of a panel of 21 common Microdeletion and Microduplication syndromes (CMMS was carried out using Multiplex Ligation-Dependent Probe Amplification (MLPA technique. Results Among the families studied, 27.7% had 4-12, 35.6% had 3 and 36.6% had 2 affected individuals in the first-degree relatives. An autosomal dominant inheritance of Williams-Beuren syndrome (WBS was detected in a family with no clinical suspicion of WBS. The prevalence of CMMS was therefore,0.99%. Conclusion This is the first investigation of a panel of CMMS in a large sample set of "familial ID patients". The findings of this study showed the low prevalence of CMMSs in "familial ID" patients in spite of the significant contribution of such aberrations in "sporadic ID" which has a very useful practical impact by avoiding unnecessary diagnostic tests in "familial ID" patients.

  10. Magnesium protects cognitive functions and synaptic plasticity in streptozotocin-induced sporadic Alzheimer's model.

    Science.gov (United States)

    Xu, Zhi-Peng; Li, Li; Bao, Jian; Wang, Zhi-Hao; Zeng, Juan; Liu, En-Jie; Li, Xiao-Guang; Huang, Rong-Xi; Gao, Di; Li, Meng-Zhu; Zhang, Yao; Liu, Gong-Ping; Wang, Jian-Zhi

    2014-01-01

    Alzheimer's disease (AD) is characterized by profound synapse loss and impairments of learning and memory. Magnesium affects many biochemical mechanisms that are vital for neuronal properties and synaptic plasticity. Recent studies have demonstrated that the serum and brain magnesium levels are decreased in AD patients; however, the exact role of magnesium in AD pathogenesis remains unclear. Here, we found that the intraperitoneal administration of magnesium sulfate increased the brain magnesium levels and protected learning and memory capacities in streptozotocin-induced sporadic AD model rats. We also found that magnesium sulfate reversed impairments in long-term potentiation (LTP), dendritic abnormalities, and the impaired recruitment of synaptic proteins. Magnesium sulfate treatment also decreased tau hyperphosphorylation by increasing the inhibitory phosphorylation of GSK-3? at serine 9, thereby increasing the activity of Akt at Ser473 and PI3K at Tyr458/199, and improving insulin sensitivity. We conclude that magnesium treatment protects cognitive function and synaptic plasticity by inhibiting GSK-3? in sporadic AD model rats, which suggests a potential role for magnesium in AD therapy. PMID:25268773

  11. Are we really at the dawn of understanding sporadic pediatric thyroid carcinoma?

    Science.gov (United States)

    Cordioli, Maria Isabel C Vieira; Moraes, Lais; Cury, Adriano Namo; Cerutti, Janete M

    2015-12-01

    Data from the National Cancer Institute and from the literature have disclosed an increasing incidence of thyroid cancer in children, adolescents and adults. Although children and adolescents with thyroid cancer tend to present with more advanced disease than adults, their overall survival rate is excellent; however, there is no clear explanation for the differences observed in the clinicopathological outcomes in these age groups. There has been an ongoing debate regarding whether the clinicopathological differences may be due to the existence of distinct genetic alterations. Efforts have been made to identify these acquired genetic abnormalities that will determine the tumor's biological behavior and ultimately allow molecular prognostication. However, most of the studies have been performed in radiation-exposed pediatric thyroid carcinoma. Therefore, our understanding of the role of these driver mutations in sporadic pediatric differentiated thyroid cancer development is far from complete, and additionally, there is a strong need for studies in both children and adolescents. The aim of this review is to present an extensive literature review with emphasis on the molecular differences between pediatric sporadic and radiation-exposed differentiated thyroid carcinomas and adult population. PMID:26307021

  12. Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis.

    Science.gov (United States)

    Belzil, Veronique V; Daoud, Hussein; St-Onge, Judith; Desjarlais, Anne; Bouchard, Jean-Pierre; Dupre, Nicolas; Lacomblez, Lucette; Salachas, François; Pradat, Pierre-François; Meininger, Vincent; Camu, William; Dion, Patrick A; Rouleau, Guy A

    2011-03-01

    Mutations in the FUS gene have been recently associated with amyotrophic lateral sclerosis (ALS). While most of the variants have been identified in patients with a family history of the disease, a few mutations were also found in sporadic patients. Considering this, we wanted to evaluate the frequency of mutations in the coding region of the FUS gene in a sporadic ALS (SALS) cohort compared to a control population. We tested 475 SALS cases of European origin and 475 matched controls for coding variations in the 15 exons of the FUS gene. Rare novel variants were identified in a total of five SALS patients: one missense, one deletion, one frameshift, and one nonsense substitution. Two of the four variants are located in the carboxy terminal of the protein where the previously reported variants were mostly clustered. In conclusion, FUS gene mutations are rare in SALS, with four new FUS variants identified in five different SALS cases. These findings will help evaluate the proportion of FUS variations in the SALS population, and to better understand its contributing role to ALS pathology. PMID:21261515

  13. Early detection of sporadic pancreatic cancer: strategic map for innovation--a white paper.

    Science.gov (United States)

    Kenner, Barbara J; Chari, Suresh T; Cleeter, Deborah F; Go, Vay Liang W

    2015-07-01

    Innovation leading to significant advances in research and subsequent translation to clinical practice is urgently necessary in early detection of sporadic pancreatic cancer. Addressing this need, the Early Detection of Sporadic Pancreatic Cancer Summit Conference was conducted by Kenner Family Research Fund in conjunction with the 2014 American Pancreatic Association and Japan Pancreas Society Meeting. International interdisciplinary scientific representatives engaged in strategic facilitated conversations based on distinct areas of inquiry: Case for Early Detection: Definitions, Detection, Survival, and Challenges; Biomarkers for Early Detection; Imaging; and Collaborative Studies. Ideas generated from the summit have led to the development of a Strategic Map for Innovation built upon 3 components: formation of an international collaborative effort, design of an actionable strategic plan, and implementation of operational standards, research priorities, and first-phase initiatives. Through invested and committed efforts of leading researchers and institutions, philanthropic partners, government agencies, and supportive business entities, this endeavor will change the future of the field and consequently the survival rate of those diagnosed with pancreatic cancer. PMID:25938853

  14. Metabolic Risk Factors of Sporadic Alzheimer's Disease: Implications in the Pathology, Pathogenesis and Treatment.

    Science.gov (United States)

    Chakrabarti, Sasanka; Khemka, Vineet Kumar; Banerjee, Anindita; Chatterjee, Gargi; Ganguly, Anirban; Biswas, Atanu

    2015-08-01

    Alzheimer's disease (AD), the major cause of dementia among the elderly world-wide, manifests in familial and sporadic forms, and the latter variety accounts for the majority of the patients affected by this disease. The etiopathogenesis of sporadic AD is complex and uncertain. The autopsy studies of AD brain have provided limited understanding of the antemortem pathogenesis of the disease. Experimental AD research with transgenic animal or various cell based models has so far failed to explain the complex and varied spectrum of AD dementia. The review, therefore, emphasizes the importance of AD related risk factors, especially those with metabolic implications, identified from various epidemiological studies, in providing clues to the pathogenesis of this complex disorder. Several metabolic risk factors of AD like hypercholesterolemia, hyperhomocysteinemia and type 2 diabetes have been studied extensively both in epidemiology and experimental research, while much less is known about the role of adipokines, pro-inflammatory cytokines and vitamin D in this context. Moreover, the results from many of these studies have shown a degree of variability which has hindered our understanding of the role of AD related risk factors in the disease progression. The review also encompasses the recent recommendations regarding clinical and neuropathological diagnosis of AD and brings out the inherent uncertainty and ambiguity in this area which may have a distinct impact on the outcome of various population-based studies on AD-related risk factors. PMID:26236550

  15. DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

    Science.gov (United States)

    Abath, Osorio; Martins, Cristiane de Araújo; Carvalho, Mary; Chadi, Gerson; Seitz, Katia Werneck; Oliveira, Acary Souza Bulle; Reed, Umbertina Conti; Laporte, Jocelyn; Zanoteli, Edmar

    2015-01-01

    Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. The disease is clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset mild muscle weakness, and can have multiple modes of inheritance in association with various genes, including MTM1, DNM2, BIN1 and RYR1. Here we analyzed 18 sporadic patients with clinical and histological diagnosis of CNM and sequenced the DNM2 gene, which codes for the dynamin 2 protein. We found DNM2 missense mutations in two patients, both in exon 8, one known (p.E368K) and one novel (p.F372C), which is found in a position of presumed pathogenicity and appeared de novo. The patients had similar phenotypes characterized by neonatal signs followed by improvement and late childhood reemergence of slowly progressive generalized muscle weakness, elongated face with ptosis and ophthalmoparesis, and histology showing fibers with radiating sarcoplasmic strands (RSS). These patients were the only ones in the series to present this histological marker, which together with previous reports in the literature suggest that, when RSS are present, direct sequencing of DNM2 mutation hot spot regions should be the first step in the molecular diagnosis of CNM, even in sporadic cases. PMID:26273216

  16. Peripheral blood lymphocyte to monocyte ratio identifies high-risk adult patients with sporadic Burkitt lymphoma.

    Science.gov (United States)

    Wang, Liang; Wang, Hua; Xia, Zhong-Jun; Huang, Hui-Qiang; Jiang, Wen-Qi; Lin, Tong-Yu; Lu, Yue

    2015-10-01

    Adult sporadic Burkitt lymphoma (BL) is a rare subtype of lymphoma. In this retrospective study, we investigated the prognostic value of pretreatment lymphocyte to monocyte ratio (LMR) in a cohort of 62 patients. Using LMR <2.6 as the optimal cutoff point, 24 patients (38.7 %) had LMR <2.6. The complete response rates in high-LMR group and low-LMR group were 90.9 and 65.0 %, respectively (P?=?0.019). At a median follow-up time of 41 months, the 3-year progression-free survival (PFS) rate and overall survival (OS) rates were 76 and 80 %, respectively. In a multivariate Cox regression model, it was found that the presence of bone marrow infiltration and low LMR were independently adverse prognostic factors for both PFS and OS. In the whole group, the addition of rituximab to treatment did not benefit patients significantly in PFS and OS. In subgroup analysis, in patients with high LMR, addition of rituximab can significantly improve survival outcomes (P?=?0.046). In conclusion, we firstly found that low LMR (<2.60) was an independently adverse prognostic factor in adult patients with sporadic BL. Intensive chemotherapy could cure the majority of patients in our study, and the pretreatment LMR might predict the value of rituximab in this age population. PMID:26082333

  17. Source attribution of human salmonellosis and campylobacteriosos using a systematic review of studies of sporadic infections

    DEFF Research Database (Denmark)

    Coutinho Calado Domingues, Ana Rita; Pires, Sara Monteiro

    Salmonella spp. and Campylobacter spp. are widespread and important causes of human illness worldwide. Disease is most frequently associated with foodborne transmission, but other routes of exposure, such as direct contact with live animals and person-to-person transmission, are recognized. Identifying the most important sources of human disease is essential for prioritizing food safety interventions and setting public health goals. Numerous case-control studies of sporadic infections of salmonellosis and campylobacteriosis have been published. These studies investigate a variety of potential risk factors for disease, and often use different methodologies and settings. Systematic reviews (SR) consist of a formal process for literature review focused on a specific research question, and include the identification of relevant literature, quality assessment of relevant studies, summarization or statistical analysis of data, and conclusions. With the objective of identifying the most important risk factors for human sporadic salmonellosis and campylobacteriosis, we performed a SR of case-control studies and meta-analysis of the obtained results. From 1,295 identified references, 132 passed the relevance screening, 73 passed the quality assessment stage, and data was extracted from 72. Of these studies, 34 investigated risk factors for human salmonellosis and 37 focused on campylobacteriosis. Heterogeneity between the studies and possible sources of bias were assessed. Information on exposures of cases and controls, and estimated odds ratios for investigated risk factors were recovered and analyzed with the purpose of assisting attribution of human disease. The most significant results were illustrated using forest plots.

  18. Polymorphisms in ACVRL1 and Endoglin genes are not associated with sporadic and HHT related brain AVMs in Dutch patients

    OpenAIRE

    Boshuisen, Kim; Brundel, Manon; de Kovel, Carolien G. F.; Letteboer, Tom G.; Rinkel, Gabriel J. E.; Westermann, Cornelis J.J.; Kim, Helen; Pawlikowska, Ludmila; Koeleman, Bobby P C; Klijn, Catharina J.M.

    2012-01-01

    We aimed to replicate the association of the IVS3-35A>G polymorphism in the activin receptor-like kinase (ACVRL) 1 gene and the 207G>A polymorphism in the endoglin (ENG) gene with sporadic brain arteriovenous malformations (BAVM) in Dutch BAVM patients. In addition, we assessed whether these polymorphisms contribute to the risk of BAVM in patients with hereditary haemorrhagic telangiectasia type 1 (HHT1). We genotyped 143 Dutch sporadic BAVM patients and 360 healthy volunteers for four varian...

  19. Expression and localization of BRCA1 protein by immunofluorescence technique in sporadic breast cancer

    International Nuclear Information System (INIS)

    Full text: Introduction. BRCA1 protein is a tumor suppressor subjected to a nuclear-cytoplasmic shuttle, involved in the tumorigenesis of breast cancer. Controversy exists regarding the meaning of the expression and subcellular localization in sporadic breast cancer, particularly the one with triple-negative phenotype. The purpose of this study was to evaluate the pattern of expression and subcellular localization of BRCA1 in a well- characterized breast tumors sporadic, and compared with adjacent normal breast. Methods. We analyzed, by immunofluorescence, the expression / localization of BRCA1 in cuts of tumor and adjacent normal tissue fixed in formaldehyde and embedded in paraffin, of 22 cases, majority being triple negative phenotype. 3 sections were studied tumor and normal tissue per patient (03.05 fields / section) using con focal microscopy and evaluated the percentage of cells with BRCA1 nuclear foci. For statistical analysis of differences in expression / BRCA1 localization between tumor and normal tissue was used Mann Whitney U test, and to determine the associations with the content and status of estrogen receptor (E R) and progesterone (P R), fraction of activated A kt and clinico pathologic characteristics test was used of Spea rman rank correlation was considered significant when p < 0.05. Results. We observed cytoplasmic and nuclear expression of BRCA1 in all sections of normal and tumor tissue analyzed, although the latter showed a significantly larger cell with BRCA1 nuclear foci (53%)compared with the corresponding adjacent normal tissue (33 %, p = 0.004, n = 12). Furthermore, a positive correlation was obtained between the percentage of cells with nuclear foci and content (p = 0.003)and status (p = 0.002)of R E in the total cases studied. No correlation was found between the percentage of cells with nuclear foci and the contents of R P (p = 0.996), activated Ak t fraction (p = 0.753), age (p = 0.695)and lymph node involvement (p = 0.730). Conclusions. BRCA1 is a cytoplasmic and nuclear protein in normal and tumor breast tissue, and the latter has a higher percentage of BRCA1 nuclear foci, possibly in response to increase genetic aberrations characteristic of malignant cells. the association found between the nuclear localization of BRCA1 and R E content level could be explained tumor up regulation by R E on DNA repair mediated by BRCA1. Considering these results, it seems useful to conduct a study with a larger population and elucidate the mechanisms involved in intracellular trafficking of BRCA1 in breast cancer esporádico.Expresión and location of the BRCA1 -1 protein by immunofluorescence technique in sporadic breast cancer

  20. BRCA1 Expression Is Epigenetically Repressed in Sporadic Ovarian Cancer Cells by Overexpression of C-Terminal Binding Protein 2

    Directory of Open Access Journals (Sweden)

    Taymaa May

    2013-06-01

    Full Text Available INTRODUCTION: Ovarian cancer is the leading cause of mortality from gynecological malignancy despite advancements in novel therapeutics. We have recently demonstrated that the transcriptional co-repressor C-terminal binding protein 2 (CtBP2 is overexpressed in epithelial ovarian carcinoma. MATERIALS AND METHODS: Reverse-transcribed cDNA from CtBP2 wild-type and knockdown ovarian cancer cell lines was hybridized to Affymetrix Gene 1.0 ST microarrays, and differentially expressed genes were studied. Immunohistochemical analysis of CtBP2 and BRCA1 staining of ovarian tissues was performed. Chromatin immunoprecipitation (ChIP and luciferase assays were carried out. The effect of the drugs 4-methylthio-2-oxobutyric acid (MTOB and poly(ADP-ribose polymerase (PARP inhibitor Olaparib on CtBP2 wild-type and knockdown cell lines was examined using methylthiazol tetrazolium assays and an xCELLigence System. RESULTS: Eighty-five genes involved in DNA repair, mitotic checkpoint, nucleosome assembly, and the BRCA1 network were differentially regulated by CtBP2 expression. ChIP and luciferase reporter assays using a BRCA1 promoter-regulated luciferase construct indicated that the CtBP2 complex binds the BRCA1 promoter and represses BRCA1 transcription. Immunohistochemistry illustrated a significant inverse CtBP2 and BRCA1 expression in a panel of malignant ovarian tumor tissues. The CtBP2 inhibitor MTOB suppressed ovarian cancer cell survival in a CtBP2-dependent manner. Ovarian cancer cells with CtBP2 knockdown did not display increased sensitivity to the PARP inhibitor Olaparib. CONCLUSION: CtBP2 is an ovarian cancer oncogene that may play a significant role in epigenetically silencing BRCA1 function in sporadic epithelial ovarian cancer. CtBP2-specific inhibitors, such as MTOB, may be effective adjunct therapies in the management of patients with CtBP2-positive ovarian carcinoma.

  1. Determination of sporadic E radio wave propagation parameters based on vertical and oblique sounding

    Science.gov (United States)

    Sherstyukov, O. N.; Akchurin, A. D.; Sherstyukov, R. O.

    2015-09-01

    Sporadic E layer is often determined for HF radio communication. We have to deal with oblique radiowave propagation in the radio practice. The limiting frequencies at oblique propagation depend heavily on the transmitter power and the receiver sensitivity. The reason for this, as in the case of vertical propagation, is the dependence of Es reflection coefficient, ?Es (reflection loss R(dB)), on Es operation frequencies. This paper describes the characteristics of HF Es propagation in relation to foEs obtained from ionospheric vertical observations. It was found that characteristics of Es propagation depend on the type and height of the Es layer. Also the foEs diurnal variation at definite R(dB) was detected. This investigation allows improving the prediction of limiting frequencies for HF radio propagation.

  2. Risk factors for sporadic infection with Salmonella Infantis: a matched case-control study.

    Science.gov (United States)

    Bassal, R; Reisfeld, A; Nissan, I; Agmon, V; Taran, D; Schemberg, B; Cohen, D; Shohat, T

    2014-04-01

    This matched case-control study investigated the risk factors for sporadic Salmonella Infantis infection in 263 affected children and 263 age-, gender- and neighbourhood-matched controls. Information about exposure to potential risk factors was obtained via telephone interview and evaluated by conditional logistic regression analysis. Age groups ? 1 year (n=77) and >1 year (n = 186) were analysed separately. Of those aged ? 1 year, breastfeeding was a significant protective factor against infection [matched odds ratio (mOR) 0.24, 95% confidence interval (CI) 0.10-0.59, P number of children in the household (mOR 0.72, 95% CI 0.58-0.88, P Breastfeeding should be strongly encouraged by public health authorities. The public must be educated on stringent hygiene practices, especially proper cooking of eggs to reduce infection rates. PMID:23879895

  3. Metal ions and isotopes in sporadic E-layers during the Perseid meteor shower

    Science.gov (United States)

    Herrmann, U.; Eberhardt, P.; Hidalgo, M. A.; Kopp, E.; Smith, L. G.

    1977-01-01

    The electron density and positive-ion composition above Wallops Island were measured on August 12, 1976, about 12 hours after the maximum of the Perseid shower. At launch time, 4.5 MHz was recorded for fbEs, corresponding to an electron density of 2.4 x 10 to the 5th power per cu cm. Electron profile and ion composition measurements confirmed the presence of a sporadic E-layer with two maxima at 101.3 and 105.4 km. The electron density was measured with a pair of boom-mounted probes at fixed potential. The positive ion composition above 77 km was measured with a magnetic mass spectrometer employing a liquid He cryopump. Some of the salient results of the (still incomplete) analysis are discussed.

  4. Atypical case of sporadic Creutzfeldt-Jakob disease (CJD) in a young adult.

    Science.gov (United States)

    Kozubski, W; Wender, M; Szczech, J; Lenart-Jankowska, D; Liberski, P P

    1998-01-01

    The great concern exists that new variant of CJD (nvCJD) developed as a result of exposure to bovine spongiform encephalopathy (BSE)-infected meat products. Therefore, all cases of CJD in the young, as the one of ours are the matter of interest. The 21-year-old female developed a rapid progression of pyramidal, extrapyramidal and cerebellar signs, visual loss and psychiatric symptoms, leading to death in 16 weeks. The microscopic features were: a neuronal loss accentuated in cerebral cortex with extensive astroglia proliferation and spongiform changes. Immunohistochemical staining, revealed the presence of "synaptic" deposits of PrP in the cerebral cortex and in the cerebellum. No florid amyloid plaques were present. The case was diagnosed as a sporadic CJD, with some features of Heidenhein variant (visual symptoms) and corticostriatocerebellar category. The pathological findings excluded a nv CJD which is linked with BSE. PMID:10079605

  5. Sporadic gastric carcinoid tumor successfully treated by two-stage laparoscopic surgery: A case report

    Directory of Open Access Journals (Sweden)

    Takahiro Kinoshita

    2010-11-01

    Full Text Available We report a case of sporadic gastric carcinoid tumor successfully treated by two-stage laparoscopic surgery. A 38-year old asymptomatic woman was referred to our hospital for evaluation of a submucosal tumor of the stomach. Endoscopic examination showed a solitary submucosal tumor without ulceration or central depression on the posterior wall of the antrum and biopsy specimens were not sufficient to determine the diagnosis. Endoscopic ultrasound revealed a tumor nearly 2 cm in diameter arising from the muscle layer and a computed tomography scan showed the tumor enhanced in the arterial phase. Laparoscopic wedge resection was performed for definitive diagnosis. Pathologically, the tumor was shown to be gastric carcinoid infiltrating the muscle layer which indicated the probability of lymph node metastasis. Serum gastrin levels were normal. As a radical treatment, laparoscopy-assisted distal gastrectomy with regional lymphadenectomy was performed 3 wk after the initial surgery. Finally, pathological examination revealed no lymph node metastasis.

  6. Four new species of Dolichopoda Bolivar, 1880 from Southern Sporades and Western Turkey (Orthoptera, Rhaphidophoridae, Dolichopodainae)

    Science.gov (United States)

    Rampini, Mauro; Russo, Claudio Di; Taylan, Mehmet Sait; Gelosa, Arianna; Cobolli, Marina

    2012-01-01

    Abstract A description of four new species of Dolichopoda Bolivar, 1880 (Orthoptera, Rhaphidophoridae) from Eastern Aegean region (Southern Sporades), including Western Turkey, is reported. This brings to a total of 11 the number of Dolichopoda species recorded for caves of the Aegean area. Overall, these species show a high degree of morphological homogeneity and they are very close to Dolichopoda paraskevi Boudou-Saltet, 1973 from Crete and Dolichopoda naxia Boudou-Saltet, 1972 from Cyclades (Naxos Island). The Western Turkish species are morphologically not closely related to the other Anatolian species; this suggests an independent origin for the taxa occurring in the Southern Taurus and Black Sea regions. These new data help to better define the already high level of diversity of the Hellenic Dolichopoda and strengthen the hypothesis that the central area of dispersal for the genus would correspond to the ancient Aegean plate. PMID:22768003

  7. A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.

    Science.gov (United States)

    Kun-Rodrigues, Celia; Ganos, Christos; Guerreiro, Rita; Schneider, Susanne A; Schulte, Claudia; Lesage, Suzanne; Darwent, Lee; Holmans, Peter; Singleton, Andrew; Bhatia, Kailash; Bras, Jose

    2015-12-01

    Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that de novo mutations may account for a proportion of these early-onset, sporadic cases. We performed exome sequencing in full parent-child trios where the proband presents with typical PD to unequivocally identify de novo mutations. This approach allows us to test all genes in the genome in an unbiased manner. We have identified and confirmed 20 coding de novo mutations in 21 trios. We have used publicly available population genetic data to compare variant frequencies and our independent in-house dataset of exome sequencing in PD (with over 1200 cases) to identify additional variants in the same genes. Of the genes identified to carry de novo mutations, PTEN, VAPB and ASNA1 are supported by various sources of data to be involved in PD. We show that these genes are reported to be within a protein-protein interaction network with PD genes and that they contain additional rare, case-specific, mutations in our independent cohort of PD cases. Our results support the involvement of these three genes in PD and suggest that testing for de novo mutations in sporadic disease may aid in the identification of novel disease-causing genes. PMID:26362251

  8. BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases

    Directory of Open Access Journals (Sweden)

    Nancy Uhrhammer, Amina Abdelouahab, Laurence Lafarge, Viviane Feillel, Ahmed Ben Dib, Yves-Jean Bignon

    2008-01-01

    Full Text Available Breast cancer rates and median age of onset differ between Western Europe and North Africa. In Western populations, 5 to 10 % of breast cancer cases can be attributed to major genetic factors such as BRCA1 and BRCA2, while this attribution is not yet well defined among Africans. To help determine the contribution of BRCA1 mutations to breast cancer in a North African population, we analysed genomic DNA from breast cancer cases ascertained in Algiers. Both familial cases (at least three breast cancers in the same familial branch, or two with one bilateral or diagnosed before age 40 and sporadic cases less than 38 years of age were studied. Complete sequencing plus quantitative analysis of the BRCA1 gene was performed. 9.8 % (5/51 of early-onset sporadic and 36.4 % (4/11 of familial cases were found to be associated with BRCA1 mutations. This is in contrast 10.3 % of French HBOC families exhibiting a BRCA1 mutation. One mutation, c.798_799delTT, was observed in two Algerian families and in two families from Tunisia, suggesting a North African founder allele. Algerian non-BRCA1 tumors were of significantly higher grade than French non-BRCA tumors, and the age at diagnosis for Algerian familial cases was much younger than that for French non-BRCA familial cases. In conclusion, we observed a much higher frequency of BRCA1 mutations among young breast cancer patients than observed in Europe, suggesting biological differences and that the inclusion criterea for analysis in Western Europe may not be applicable for the Northern African population.

  9. Differential expression of hMLH1 in sporadic human colorectal cancer tumors and distant metastases

    DEFF Research Database (Denmark)

    Larsen, Nicolai Balle; Rasmussen, Merete

    2009-01-01

    Somatic defects in the mismatch repair system constitute an important pathway in colorectal carcinogenesis. We have examined the expression of mismatch repair proteins in sporadic stage IV colorectal tumors and their derived metastases. Sporadic tumors were further examined for differences in expression between the tumor transition zone and the invasive front. Expression of hMSH2, hMLH1, and hPMS2 was screened immunohistochemically in 92 stage IV tumors and derived liver metastases. In cases with loss of mismatch repair protein expression, lymph node metastases were also examined. Clinicopathological parameters and Ki-67 staining indexes were evaluated and compared. Four tumors displayed a complete loss of hMLH1/hPMS2 expression at the transition zone; however, three of these expressed both proteins at the invasive front and in liver and lymph node metastases. A further four were predominantly hMLH1/hPMS2 negative at the transition zone, but with distinct subclones of hMLH1/hPMS2-expressing cells at the transition zone. All of these tumors expressed hMLH1/hPMS2 at the invasive front and in liver metastases, with three also expressing hMLH/hPMS2 in lymph node metastases. No significant difference in the proliferative index was observed for the hMLH1/hPMS2-compromised group. In stage IV tumors re-expression of hMLH1/hPMS2 occurred, leading to different patterns of expression within the primary tumor and between tumor and metastases. This may have functional importance for the chemosensitivity of metastases compared to the primary tumor.

  10. Analysis of wave-like oscillations in parameters of sporadic E layer and neutral atmosphere

    Science.gov (United States)

    Mošna, Z.; Koucká Knížová, P.

    2012-12-01

    The present study mainly concerns the wave-like activity in the ionospheric sporadic E layer (Es) and in the lower lying stratosphere. The proposed analysis involves parameters describing the state of plasma in the sporadic E layer. Critical frequencies foEs and layer heights hEs were measured at the Pruhonice station (50°N, 14.5°E) during summer campaigns 2004, 2006 and 2008. Further, we use neutral atmosphere (temperature data at 10 hPa) data from the same time interval. The analysis concentrates on vertically propagating wave-like structures within distant atmospheric regions. By means of continuous wavelet transform (CWT) we have detected significant wave-like oscillation at periods covering tidal and planetary oscillation domains both in the Es layer parameters (some of them were reported earlier, for instance in works of Abdu et al., 2003; Pancheva and Mitchel, 2004; Pancheva et al., 2003; Šauli and Bourdillon, 2008) and in stratospheric temperature variations. Further analyses using cross wavelet transform (XWT) and wavelet coherence analysis (WTC) show that despite high wave-like activity in a wide period range, there are only limited coherent wave-like bursts present in both spectra. Such common coherent wave bursts occur on periods close to eigen-periods of the terrestrial atmosphere. We suppose that vertical coupling between atmospheric regions realized by vertically propagating planetary waves occurs predominantly on periods close to those of Rossby modes. Analysis of the phase shift between data from distant atmospheric regions reveals high variability and very likely supports the non-linear scenario of the vertical coupling provided by planetary waves.

  11. Role of Trisomy 21 Mosaicism in Sporadic and Familial Alzheimer's Disease.

    Science.gov (United States)

    Potter, Huntington; Granic, Antoneta; Caneus, Julbert

    2016-01-01

    Trisomy 21 and the consequent extra copy of the amyloid precursor protein (APP) gene and increased beta-amyloid (A?) peptide production underlie the universal development of Alzheimer's disease (AD) pathology and high risk of AD dementia in people with Down syndrome (DS). Trisomy 21 and other forms of aneuploidy also arise among neurons and peripheral cells in both sporadic and familial AD and in mouse and cell models thereof, reinforcing the conclusion that AD and DS are two sides of the same coin. The demonstration that 90% of the neurodegeneration in AD can be attributed to the selective loss of aneuploid neurons generated over the course of the disease indicates that aneuploidy is an essential feature of the pathogenic pathway leading to the depletion of neuronal cell populations. Trisomy 21 mosaicism also occurs in neurons and other cells from patients with Niemann-Pick C1 disease and from patients with familial or sporadic frontotemporal lobar degeneration (FTLD), as well as in their corresponding mouse and cell models. Biochemical studies have shown that A? induces mitotic spindle defects, chromosome mis-segregation, and aneuploidy in cultured cells by inhibiting specific microtubule motors required for mitosis. These data indicate that neuronal trisomy 21 and other types of aneuploidy characterize and likely contribute to multiple neurodegenerative diseases and are a valid target for therapeutic intervention. For example, reducing extracellular calcium or treating cells with lithium chloride (LiCl) blocks the induction of trisomy 21 by A?. The latter finding is relevant in light of recent reports of a lowered risk of dementia in bipolar patients treated with LiCl and in the stabilization of cognition in AD patients treated with LiCl. PMID:26651340

  12. Are there tumor suppressor genes on chromosome 4p in sporadic colorectal carcinoma?

    Directory of Open Access Journals (Sweden)

    Hai-Tao Zheng, Li-Xin Jiang, Zhong-Chuan Lv, Da-Peng Li, Chong-Zhi Zhou, Jian-Jun Gao, Lin He, Zhi-Hai Peng

    2008-01-01

    Full Text Available AIM: To study the candidate tumor suppressor genes (TSG on chromosome 4p by detecting the high frequency of loss of heterozygosity (LOH in sporadic colorectal carcinoma in Chinese patients.METHODS: Seven fluorescent labeled polymorphic microsatellite markers were analyzed in 83 cases of colorectal carcinoma and matched normal tissue DNA by PCR. PCR products were eletrophoresed on an ABI 377 DNA sequencer. Genescan 3.7 and Genotype 3.7 software were used for LOH scanning and analysis. The same procedure was performed by the other six microsatellite markers spanning D4S3013 locus to make further detailed deletion mapping. Comparison between LOH frequency and clinicopathological factors was performed by ?2 test.RESULTS: Data were collected from all informative loci. The average LOH frequency on 4p was 24.25%, and 42.3% and 35.62% on D4S405 and D4S3013 locus, respectively. Adjacent markers of D4S3013 displayed a low LOH frequency (< 30% by detailed deletion mapping. Significant opposite difference was observed between LOH frequency and tumor diameter on D4S412 and D4S1546 locus (0% vs 16.67%, P = 0.041; 54.55% vs 11.11%, P = 0.034, respectively. On D4S403 locus, LOH was significantly associated with tumor gross pattern (11.11%, 0, 33.33%, P = 0.030. No relationship was detected on other loci compared with clinicopathological features.CONCLUSION: By deletion mapping, two obvious high frequency LOH regions spanning D4S3013 (4p15.2 and D4S405 (4p14 locus are detected. Candidate TSG, which is involved in carcinogenesis and progression of sporadic colorectal carcinoma on chromosome 4p, may be located between D4S3017 and D4S2933 (about 1.7 cm.

  13. Familial ulcerative colitis in Israeli Jews: its prevalence and clinical severity compared to sporadic disease

    Science.gov (United States)

    Ben-Horin, Shomron; Tamir, Shira; Kopylov, Uri; Katz, Lion; Nadler, Moshe; Lang, Alon; Avidan, Benjamin; Chowers, Yehuda

    2011-01-01

    Background A family history of inflammatory bowel disease (IBD) is present in some ulcerative colitis (UC) patients. We aimed to investigate the familial occurrence of UC and its impact on disease severity. Methods A structured questionnaire was distributed to patients with UC. Parameters pertaining to disease severity were compared for patients with or without positive family history of IBD. Results The study group consisted of 168 UC patients with a total of 952 first degree relatives. Positive family history for IBD in a first degree relative was reported in 24 patients (14%). Six of the 336 parents (1.8%) had IBD (all with UC). There were 13 siblings with IBD (4 CD, 9 UC) out of 249 (5.4%). Seven of 376 (1.9%) offsprings had IBD (4 CD, 3 UC). Familial patients were more commonly females and have reported significantly more disease exacerbations than the sporadic group (17.7±15 versus 6.8±11, respectively, p=0.006). On multivariate analysis, familial disease was significantly and independently associated with both female sex (OR 4.1, 95% CI 1.1-14.9, p=0.04) and more exacerbations per year (annual OR 1.05, 95% CI 1.01-1.1, p=0.02). However, similar proportions of sporadic and familial patients wherever hospitalized, underwent colectomy or were treated by immune-suppressors. Conclusions Familial occurrence of UC is not uncommon among Jewish patients in Israel. The familial-genetic component may preferentially influence disease occurrence among females, and is possibly associated with more disease flares although other parameters of disease severity do not seem to be impacted. PMID:24713724

  14. Sporadic colorectal cancer and individual susceptibility: A review of the association studies investigating the role of DNA repair genetic polymorphisms.

    Czech Academy of Sciences Publication Activity Database

    Naccarati, Alessio; Pardini, B.; Hemminki, K.; Vodi?ka, Pavel

    2007-01-01

    Ro?. 635, 2-3(2007), s.118-145. ISSN 1383-5742 R&D Projects: GA MZd NR8563; GA ?R GA310/05/2626 Institutional research plan: CEZ:AV0Z50390512 Keywords : Sporadic colorectal cancer * Individual susceptibility * DNA repair Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.353, year: 2007

  15. Nosocomial transmission of sporadic Creutzfeldt-Jakob disease: results from a risk-based assessment of surgical interventions

    DEFF Research Database (Denmark)

    de Pedro-Cuesta, Jesús; Mahillo-Fernández, Ignacio; Rábano, Alberto; Calero, Miguel; Cruz, Mabel; Siden, Ake; Laursen, Henning; Falkenhorst, Gerhard; Mølbak, Kåre

    2011-01-01

    Evidence of surgical transmission of sporadic Creutzfeldt-Jakob disease (sCJD) remains debatable in part due to misclassification of exposure levels. In a registry-based case-control study, the authors applied a risk-based classification of surgical interventions to determine the association between a history of surgery and sCJD.

  16. Genetic Determinants for Cadmium and Arsenic Resistance among Listeria monocytogenes Serotype 4b Isolates from Sporadic Human Listeriosis Patients

    OpenAIRE

    Lee, Sangmi; Rakic-Martinez, M.; Graves, L M; T. J. Ward; Siletzky, R. M.; Kathariou, S

    2013-01-01

    In Listeria monocytogenes serotype 4b isolates from sporadic listeriosis, heavy metal resistance was primarily encountered in certain clonal groups (ECI, ECII, and ECIa). All arsenic-resistant isolates harbored the arsenic resistance cassette previously identified in pLI100; ECIa harbored additional arsenic resistance genes and a novel cadmium resistance determinant in a conserved chromosomal locus.

  17. PAX9 polymorphism and susceptibility to sporadic non-syndromic severe anodontia: a case-control study in southwest China

    OpenAIRE

    Wang, Jing; Xu, Yuanzhi; Chen, Jing; WANG, Feiyu; HUANG, Renhuan; WU, Songtao; SHU, Linjing; QIU, Jingyi; YANG, Zhi; XUE, Junjie; WANG, Raorao; ZHAO, Jilin; LAI, Wenli

    2013-01-01

    Our research aimed to look into the clinical traits and genetic mutations in sporadic non-syndromic anodontia and to gain insight into the role of mutations of PAX9, MSX1, AXIN2 and EDA in anodontia phenotypes, especially for the PAX9.

  18. MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project.

    Science.gov (United States)

    Pasquali, Elena; García-Borrón, José C; Fargnoli, Maria Concetta; Gandini, Sara; Maisonneuve, Patrick; Bagnardi, Vincenzo; Specchia, Claudia; Liu, Fan; Kayser, Manfred; Nijsten, Tamar; Nagore, Eduardo; Kumar, Rajiv; Hansson, Johan; Kanetsky, Peter A; Ghiorzo, Paola; Debniak, Tadeusz; Branicki, Wojciech; Gruis, Nelleke A; Han, Jiali; Dwyer, Terry; Blizzard, Leigh; Landi, Maria Teresa; Palmieri, Giuseppe; Ribas, Gloria; Stratigos, Alexander; Council, M Laurin; Autier, Philippe; Little, Julian; Newton-Bishop, Julia; Sera, Francesco; Raimondi, Sara

    2015-02-01

    The MC1R gene is a key regulator of skin pigmentation. We aimed to evaluate the association between MC1R variants and the risk of sporadic cutaneous melanoma (CM) within the M-SKIP project, an international pooled-analysis on MC1R, skin cancer and phenotypic characteristics. Data included 5,160 cases and 12,119 controls from 17 studies. We calculated a summary odds ratio (SOR) for the association of each of the nine most studied MC1R variants and of variants combined with CM by using random-effects models. Stratified analysis by phenotypic characteristics were also performed. Melanoma risk increased with presence of any of the main MC1R variants: the SOR for each variant ranged from 1.47 (95%CI: 1.17-1.84) for V60L to 2.74 (1.53-4.89) for D84E. Carriers of any MC1R variant had a 66% higher risk of developing melanoma compared with wild-type subjects (SOR; 95%CI: 1.66; 1.41-1.96) and the risk attributable to MC1R variants was 28%. When taking into account phenotypic characteristics, we found that MC1R-associated melanoma risk increased only for darker-pigmented Caucasians: SOR (95%CI) was 3.14 (2.06-4.80) for subjects with no freckles, no red hair and skin Type III/IV. Our study documents the important role of all the main MC1R variants in sporadic CM and suggests that they have a direct effect on melanoma risk, independently on the phenotypic characteristics of carriers. This is of particular importance for assessing preventive strategies, which may be directed to darker-pigmented Caucasians with MC1R variants as well as to lightly pigmented, fair-skinned subjects. PMID:24917043

  19. When does ALS start? ADAR2-GluA2 hypothesis for the etiology of sporadic ALS

    Directory of Open Access Journals (Sweden)

    Takuto Hideyama

    2011-11-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is the most common adult-onset motor neuron disease. More than 90% of ALS cases are sporadic, and the majority of sporadic ALS patients do not carry mutations in genes causative of familial ALS; therefore, investigation specifically targeting sporadic ALS is needed to discover the pathogenesis. The motor neurons of sporadic ALS patients express unedited GluA2 mRNA at the Q/R site in a disease-specific and motor neuron-selective manner. GluA2 is a subunit of the AMPA receptor, and it has a regulatory role in the Ca2+-permeability of the AMPA receptor after the genomic Q codon is replaced with the R codon in mRNA by adenosine-inosine conversion, which is mediated by adenosine deaminase acting on RNA 2 (ADAR2. Therefore, ADAR2 activity may not be sufficient to edit all GluA2 mRNA expressed in the motor neurons of ALS patients. To investigate whether deficient ADAR2 activity plays pathogenic roles in sporadic ALS, we generated genetically modified mice (AR2 in which the ADAR2 gene was conditionally knocked out in the motor neurons. AR2 mice showed an ALS-like phenotype with the death of ADAR2-lacking motor neurons. Notably, the motor neurons deficient in ADAR2 survived when they expressed only edited GluA2 in AR2/GluR-BR/R (AR2res mice, in which the endogenous GluA2 alleles were replaced by the GluR-BR allele that encoded edited GluA2. In heterozygous AR2 mice with only one ADAR2 allele, approximately 20% of the spinal motor neurons expressed unedited GluA2 and underwent degeneration, indicating that half-normal ADAR2 activity is not sufficient to edit all GluA2 expressed in motor neurons. It is likely therefore that the expression of unedited GluA2 causes the death of motor neurons in sporadic ALS. We hypothesize that a progressive downregulation of ADAR2 activity plays a critical role in the pathogenesis of sporadic ALS and that the pathological process commences when motor neurons express unedited GluA2.

  20. Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies

    Scientific Electronic Library Online (English)

    M., Li; L., Wang; W., Wang; X.L., Qi; Z.Y., Tang.

    2014-03-01

    Full Text Available Iron homeostasis dysregulation has been regarded as an important mechanism in neurodegenerative diseases. The H63D and C282Y polymorphisms in the HFE gene may be involved in the development of sporadic amyotrophic lateral sclerosis (ALS) through the disruption of iron homeostasis. However, studies i [...] nvestigating the relationship between ALS and these two polymorphisms have yielded contradictory outcomes. We performed a meta-analysis to assess the roles of the H63D and C282Y polymorphisms of HFE in ALS susceptibility. PubMed, MEDLINE, EMBASE, and Cochrane Library databases were systematically searched to identify relevant studies. Strict selection criteria and exclusion criteria were applied. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of associations. A fixed- or random-effect model was selected, depending on the results of the heterogeneity test. Fourteen studies were included in the meta-analysis (six studies with 1692 cases and 8359 controls for C282Y; 14 studies with 5849 cases and 13,710 controls for H63D). For the C282Y polymorphism, significant associations were observed in the allele model (Y vs C: OR=0.76, 95%CI=0.62-0.92, P=0.005) and the dominant model (YY+CY vs CC: OR=0.75, 95%CI=0.61-0.92, P=0.006). No associations were found for any genetic model for the H63D polymorphism. The C282Y polymorphism in HFE could be a potential protective factor for ALS in Caucasians. However, the H63D polymorphism does not appear to be associated with ALS.

  1. HNPCC versus sporadic microsatellite-unstable colon cancers follow different routes toward loss of HLA class I expression

    International Nuclear Information System (INIS)

    Abnormalities in Human Leukocyte Antigen (HLA) class I expression are common in colorectal cancer. Since HLA expression is required to activate tumor antigen-specific cytotoxic T-lymphocytes (CTL), HLA class I abnormalities represent a mechanism by which tumors circumvent immune surveillance. Tumors with high microsatellite instability (MSI-H) are believed to face strong selective pressure to evade CTL activity since they produce large amounts of immunogenic peptides. Previous studies identified the prevalence of HLA class I alterations in MSI-H tumors. However, those reports did not compare the frequency of alterations between hereditary and sporadic MSI-H tumors neither the mechanisms that led to HLA class I alterations in each subgroup. To characterize the HLA class I expression among sporadic MSI-H and microsatellite-stable (MSS) tumors, and HNPCC tumors we compared immunohistochemically the expression of HLA class I, ?2-microglobulin (?2m), and Antigen Processing Machinery (APM) components in 81 right-sided sporadic and 75 HNPCC tumors. Moreover, we investigated the genetic basis for these changes. HLA class I loss was seen more frequently in MSI-H tumors than in MSS tumors (p < 0.0001). Distinct mechanisms were responsible for HLA class I loss in HNPCC and sporadic MSI-H tumors. Loss of HLA class I expression was associated with ?2m loss in HNPCC tumors, but was correlated with APM component defects in sporadic MSI-H tumors (p < 0.0001). In about half of the cases, loss of expression of HLA class I was concordant with the detection of one or more mutations in the ?2m and APM components genes. HLA class I aberrations are found at varying frequencies in different colorectal tumor types and are caused by distinct genetic mechanisms. Chiefly, sporadic and hereditary MSI-H tumors follow different routes toward HLA class I loss of expression supporting the idea that these tumors follow different evolutionary pathways in tumorigenesis. The resulting variation in immune escape mechanisms may have repercussions in tumor progression and behavior

  2. Seasonal correlation of sporadic schizophrenia to Ixodes ticks and Lyme borreliosis

    Directory of Open Access Journals (Sweden)

    Fritzsche Markus

    2002-11-01

    Full Text Available Abstract Background Being born in winter and spring is considered one of the most robust epidemiological risk factors for schizophrenia. The aetiology and exact timing of this birth excess, however, has remained elusive so far. Since during phylogeny, Borrelia DNA has led to multiple germ-line mutations within the CB1 candidate gene for schizophrenia, a meta analysis has been performed of all papers on schizophrenic birth excesses with no less than 3000 cases each. All published numerical data were then plotted against the seasonal distributions of Ixodes ticks worldwide. Results In the United States, Europe and Japan the birth excesses of those individuals who later in life develop schizophrenia mirror the seasonal distribution of Ixodes ticks nine months earlier at the time of conception. South of the Wallace Line, which limits the spread of Ixodes ticks and Borrelia burgdorferi into Australia, seasonal trends are less significant, and in Singapore, being non-endemic for Ixodes ticks and Lyme disease, schizophrenic birth excesses are absent. Conclusion At present, it cannot be excluded that prenatal infection by B. burgdorferi is harmful to the implanting human blastocyst. The epidemiological clustering of sporadic schizophrenia by season and locality rather emphasises the risk to the unborn of developing a congenital, yet preventable brain disorder later in life.

  3. Inter-decadal variability of Sporadic-E layer at Argentine Islands, Antarctica?

    Scientific Electronic Library Online (English)

    P. A., Flores; A. J., Foppiano.

    2008-09-01

    Full Text Available Se ha determinado las variaciones diurnas de la ocurrencia y de varias características de las capas esporádicas de la región E sobre Islas Argentinas (65.3°S; 64.3°W) para otoño, invierno, primavera y verano, tanto durante niveles de actividad solar baja como alta de los ciclos solares 21, 22 y 23. [...] Se intenta identificar posibles variaciones interdecadales, aunque se usó equipos idénticos solo durante los ciclos 22 y 23. Parece haber diferencias reales entre ciclos, al menos para algunos tipos de Es en invierno. Abstract in english The diurnal variations of Sporadic-E layer (Es) occurrence and of various Es characteristics over Argentine Islands (65.3°S; 64.3°W) have been determined for autumn, winter, spring and summer during both low and high solar activity level for solar cycles 21, 22 and 23. Although identical equipments [...] were used only for cycles 22 and 23, an attempt is made to identify possible inter-decadal variations, which seem to have been documented for other locations. There seems to be true inter-cycle differences at least for some Es types during winter.

  4. Post-Accident Sporadic Releases of Airborne Radionuclides from the Fukushima Daiichi Nuclear Power Plant Site.

    Science.gov (United States)

    Steinhauser, Georg; Niisoe, Tamon; Harada, Kouji H; Shozugawa, Katsumi; Schneider, Stephanie; Synal, Hans-Arno; Walther, Clemens; Christl, Marcus; Nanba, Kenji; Ishikawa, Hirohiko; Koizumi, Akio

    2015-12-15

    The Fukushima nuclear accident (March 11, 2011) caused the widespread contamination of Japan by direct deposition of airborne radionuclides. Analysis of weekly air filters has revealed sporadic releases of radionuclides long after the Fukushima Daiichi reactors were stabilized. One major discharge was observed in August 2013 in monitoring stations north of the Fukushima Daiichi nuclear power plant (FDNPP). During this event, an air monitoring station in this previously scarcely contaminated area suddenly reported (137)Cs activity levels that were 30-fold above the background. Together with atmospheric dispersion and deposition simulation, radionuclide analysis in soil indicated that debris removal operations conducted on the FDNPP site on August 19, 2013 are likely to be responsible for this late release of radionuclides. One soil sample in the center of the simulated plume exhibited a high (90)Sr contamination (78 ± 8 Bq kg(-1)) as well as a high (90)Sr/(137)Cs ratio (0.04); both phenomena have usually been observed only in very close vicinity around the FDNPP. We estimate that through the resuspension of highly contaminated particles in the course of these earthmoving operations, gross (137)Cs activity of ca. 2.8 × 10(11) Bq has been released. PMID:26448161

  5. Environmental risk factors for sporadic acoustic neuroma (Interphone Study Group, Germany)

    DEFF Research Database (Denmark)

    Schlehofer, B; Schlaefer, K

    2007-01-01

    The only known risk factor for sporadic acoustic neuroma is high-dose ionising radiation. Environmental exposures, such as radiofrequency electromagnetic fields and noise are under discussion, as well as an association with allergic diseases. We performed a population-based case-control study in Germany investigating these risk factors in 97 cases with acoustic neuroma, aged 30 to 69 years, and in 194 matched controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in multiple logistic regression models. Increased risks were found for exposure to persistent noise (OR=2.31; 95% CI 1.15-4.66), and for hay fever (OR=2.20; 95% CI 1.09-4.45), but not for ionising radiation (OR=0.91; 95 % CI 0.51-1.61) or regular mobile phone use (OR=0.67; 95% CI 0.38-1.19). The study confirms results of recently published studies, although the pathogenetic mechanisms are still unknown.

  6. Clinical and histological features of sporadic non-A, non-B hepatitis.

    Directory of Open Access Journals (Sweden)

    Hyodo,Ichinosuke

    1984-08-01

    Full Text Available The incidence of hepatitis A (HA, hepatitis B (HB, and non-A, non-B hepatitis (NANBH was 27%, 30% and 43% among 73 patients with sporadic hepatitis. Epidemiological data (geographical distribution, seasonal variation, age, sex, and occupation were not distinguishing of the type of hepatitis. Neither intrafamilial infection nor previous contact with viral hepatitis patients could be demonstrated in the NANBH cases. Fever and jaundice were less frequent in NANBH than in HA. Maximum levels of SGPT, serum bilirubin, ZTT, and gamma-globulin were significantly lower in NANBH than in HA and HB. Ten of 29 NANBH patients (35% presented abnormal SGPT activities for more than 6 months, and four (14% more than 12 months. In the ten patients with prolonged courses, jaundice was more frequent and maximum levels of SGPT were higher than in patients with transient courses. Histopathologic findings were not markedly different from those of HA and HB. Bile duct damage, fatty deposition, and giant multi-nucleated cells were recognized in 6, 12, and 2 NANBH patients, respectively. There were no characteristic ultrastructural changes in NANBH.

  7. Mitochondrial D-loop mutations can be detected in sporadic malignant tumours in dogs

    Directory of Open Access Journals (Sweden)

    ?laska Brygida

    2014-12-01

    Full Text Available The aim of this study was to identify mutations in the D-loop region of mtDNA in head, neck, and limb tumours in dogs, and determination of their relationship with the process of neoplastic transformation. Blood and tumour tissue samples from 19 dogs with diagnosed sporadic malignant tumours were analysed. DNA extraction, amplification, and sequencing of the mtDNA D-loop, and bioinformatic analyses were performed. Five mutations and 19 polymorphisms were observed in 68.42% of all tumours. Polymorphic variants were noted in 42.86% of the head and neck tumours and in 58.33% of the limb tumours. Mutations were observed in 21.05% of dogs. The mutations were found in 28.57% of the head and neck tumours and in 16.66% of the limb tumours. The mutations were identified in 50% of the studied epithelial cancers. In the mesenchymal tumours, no mutations in the D-loop region were observed. Mitochondrial haplotype A17 was found in over 40% cases of limb tumours. No association between the age, breed, sex, type of tumour, and detected polymorphic variants were observed. Different mutational changes in the D-loop sequences of mtDNA identified in the blood and tumour tissues may indicate a relationship between the type of tumour and individual changes in the D-loop nucleotide sequences of mtDNA.

  8. On the influence of solar activity on the mid-latitude sporadic E layer

    Science.gov (United States)

    Pezzopane, Michael; Pignalberi, Alessio; Pietrella, Marco

    2015-09-01

    To investigate the influence of solar cycle variability on the sporadic E layer (Es), hourly measurements of the critical frequency of the Es ordinary mode of propagation, foEs, and of the blanketing frequency of the Es layer, fbEs, recorded from January 1976 to December 2009 at the Rome (Italy) ionospheric station (41.8° N, 12.5° E), were examined. The results are: (1) a high positive correlation between the F10.7 solar index and foEs as well as between F10.7 and fbEs, both for the whole data set and for each solar cycle separately, the correlation between F10.7 and fbEs being much higher than the one between F10.7 and foEs; (2) a decreasing long-term trend of the F10.7, foEs and fbEs time series, with foEs decreasing more rapidly than F10.7 and fbEs; (3) clear and statistically significant peaks at 11 years in the foEs and fbEs time series, inferred from Lomb-Scargle periodograms.

  9. HF Doppler radar observations of sporadic E at an Indian low latitude station, Visakhapatnam

    Directory of Open Access Journals (Sweden)

    M. S. S. R. K. N Sarma

    2009-02-01

    Full Text Available 5.5 MHz HF Doppler radar observations of Sporadic E over an Indian low latitude station, Visakhapatnam (17.7° N, 83.3° E and Dip 20° with 10 s resolution showed quasi-periodic variations of the echo strength and Doppler velocity variations with periods of a few minutes to a few tens of minutes. The echo strength and Doppler velocity variations with time in different range bins of the ES echo showed variations which are some times similar and some times significantly different in successive range bins at intervals of 7.5 km. The ES echo occurs with the height of maximum echo strength in the range of 100 km to 120 km and some times at 130 km. The altitude variation of the average Doppler velocity is highly variable and the height of maximum echo strength is not the same as the height of maximum Doppler velocity. Observations of ES echoes at different times of the day are presented to bring out the differences between the day and night time ES echoes. The relationship between Radar and ES parameters derived from Ionograms is poorer than that of mid latitudes which is quite consistent with the expectations based on gradient drift instability.

  10. SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

    Directory of Open Access Journals (Sweden)

    Bourdon Violaine

    2011-01-01

    Full Text Available Abstract Background Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients. In contrast, germline mutations of the SMARCB1 (INI1 tumor suppressor gene were described in familial and sporadic schwannomatosis patients. Methods To delineate the SMARCB1 gene contribution, the nine coding exons were sequenced in a series of 56 patients affected with a variable number of non-vestibular schwannomas. Results Nine variants scattered along the sequence of SMARCB1 were identified. Five of them were classified as deleterious. All five patients carrying a SMARCB1 mutation had more multiple schwannomas, corresponding to 10.2% of patients with schwannomatosis. They were also diagnosed before 35 years of age. Conclusions These results suggest that patients with schwannomas have a significant probability of carrying a SMARCB1 mutation. Combined with data available from other studies, they confirm the clinical indications for genetic screening of the SMARCB1 gene.

  11. A sporadic case of late-onset familial amyloid polyneuropathy with a monoclonal gammopathy.

    Science.gov (United States)

    Correia, Ana Sofia; Mendonça, Marcelo; Caetano, André; Medeiros, Elmira

    2015-08-01

    A 77-year-old Portuguese woman reported gradual worsening of burning and numbness in the feet and hands, fatigue, anorexia, weight loss, diarrhoea and decreased visual acuity. She had a medical history of atrial fibrillation and recent episodes of dizziness and blood pressure fluctuations. There was no relevant family history. The diagnostic workup documented a severe axonal sensorimotor peripheral neuropathy, a monoclonal IgG kappa protein on serum, a severe left ventricular hypertrophy on the echocardiogram and probable vitreous deposits of amyloid on ophthalmologic examination. Pain and dysautonomia with an axonal neuropathy and multisystemic involvement raised the possibility of amyloidosis. The presence of a detectable monoclonal protein, older age at disease onset and absence of family history of disease usually suggest immunoglobulin light-chain amyloidosis. However, in this case, both the genetic testing and the biopsy of the salivary glands confirmed transthyretin amyloidosis. In those patients with a monoclonal protein, particularly in sporadic and late-onset cases, the diagnosis of transthyretin amyloidosis can be challenging, mimicking immunoglobulin light-chain amyloidosis. PMID:26055637

  12. Low prevalence of most frequent pathogenic variants of six PARK genes in sporadic Parkinson's disease.

    Science.gov (United States)

    García, Silvia; López-Hernández, Luz Berenice; Suarez-Cuenca, Juan Antonio; Solano-Rojas, Marlene; Gallegos-Arreola, Martha P; Gama-Moreno, Olga; Valdez-Anguiano, Paulina; Canto, Patricia; Dávila-Maldonado, Luis; Cuevas-García, Carlos F; Coral-Vázquez, Ramón Mauricio

    2014-01-01

    Genetic variants that confer susceptibility to Parkinson's disease (PD) show unbalanced distribution among different populations; genetic predisposition to either familial or sporadic forms of PD in Mexican-mestizo population has not been comprehensively studied. The aim of the present study was to analyze genetic variants in six PARK genes in PD patients. In total 381 individuals (173 patients, 208 controls) were genotyped for p.Gly2019Ser and p.Gly2385Arg variants of LRRK2. The p.Gly2019Ser variant was present in two patients and one healthy control; the p.Gly2385Arg variant was not found. In a subgroup of early-onset PD (EOPD), MLPA analysis was done for PARKIN (PARK2), PINK1 (PARK6), DJ-1 (PARK7), LRRK2 (PARK8), SNCA (PARK1/4) and ATP13A2 (PARK9). We found a heterozygous deletion of exon 2 in PARK2 in the youngest patient of the early-onset group, who showed limited response to antiparkinsonian therapy. Although the changes Gly2019Ser and Gly2385Arg of LRRK2 are associated with PD in different populations; they may be a rare cause of PD in our population. Novel population-specific variants may underlie PD susceptibility in Mexican mestizos. Our study suggests that the heterozygous deletion of exon 2 in the PARK2 gene is a risk factor for EOPD. PMID:24729340

  13. Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.

    Science.gov (United States)

    Prudencio, Mercedes; Belzil, Veronique V; Batra, Ranjan; Ross, Christian A; Gendron, Tania F; Pregent, Luc J; Murray, Melissa E; Overstreet, Karen K; Piazza-Johnston, Amelia E; Desaro, Pamela; Bieniek, Kevin F; DeTure, Michael; Lee, Wing C; Biendarra, Sherri M; Davis, Mary D; Baker, Matthew C; Perkerson, Ralph B; van Blitterswijk, Marka; Stetler, Caroline T; Rademakers, Rosa; Link, Christopher D; Dickson, Dennis W; Boylan, Kevin B; Li, Hu; Petrucelli, Leonard

    2015-08-01

    Increasing evidence suggests that defective RNA processing contributes to the development of amyotrophic lateral sclerosis (ALS). This may be especially true for ALS caused by a repeat expansion in C9orf72 (c9ALS), in which the accumulation of RNA foci and dipeptide-repeat proteins are expected to modify RNA metabolism. We report extensive alternative splicing (AS) and alternative polyadenylation (APA) defects in the cerebellum of c9ALS subjects (8,224 AS and 1,437 APA), including changes in ALS-associated genes (for example, ATXN2 and FUS), and in subjects with sporadic ALS (sALS; 2,229 AS and 716 APA). Furthermore, heterogeneous nuclear ribonucleoprotein H (hnRNPH) and other RNA-binding proteins are predicted to be potential regulators of cassette exon AS events in both c9ALS and sALS. Co-expression and gene-association network analyses of gene expression and AS data revealed divergent pathways associated with c9ALS and sALS. PMID:26192745

  14. Differential cerebral deposition of IDE and NEP in sporadic and familial Alzheimer’s disease

    Science.gov (United States)

    Dorfman, Verónica Berta; Pasquini, Laura; Riudavets, Miguel; López-Costa, Juan José; Villegas, Andrés; Troncoso, Juan Carlos; Lopera, Francisco; Castaño, Eduardo Miguel; Morelli, Laura

    2011-01-01

    Alzheimer’s disease (AD) is characterized by amyloid ? (A?) accumulation in the brain and is classified as familial early-onset (FAD) or sporadic late-onset (SAD). Evidences suggest that deficits in the brain expression of insulin degrading enzyme (IDE) and neprilysin (NEP), both proteases involved in amyloid degradation, may promote A? deposition in SAD. We studied by immunohistochemistry IDE and NEP cortical expression in SAD and FAD samples carrying the E280A presenilin-1 missense mutation. We showed that IDE, a soluble peptidase, is linked with aggregated A?40 isoform while NEP, a membrane-bound protease, negatively correlates with amyloid angiopathy and its expression in the senile plaques is independent of aggregated amyloid and restricted to SAD cases. NEP, but not IDE, is over-expressed in dystrophic neurites, both proteases are immunoreactive in activated astrocytes but not in microglia and IDE was the only one detected in astrocytes of white matter from FAD cases. Collectively, our results support the notion that gross conformational changes involved in the modification from “natively folded-active” to “aggregated-inactive” IDE and NEP may be a relevant pathogenic mechanism in SAD. PMID:19019493

  15. Análisis molecular del cáncer de colon esporádico / Molecular analysis of sporadic colon cancer

    Scientific Electronic Library Online (English)

    Claudia, Hurtado; Ana María, Wielandt; Alejandro J, Zárate; Udo, Kronberg; Magdalena, Castro; Ken, Yamagiwa; Takashi, Ito; Yoshinobu, Eishi; Luis, Contreras; Francisco, López-Köstner.

    2015-03-01

    Full Text Available [...] Abstract in english Background: In Chile, colorectal cancer (CRC) is often diagnosed in late stages. Thus, surgical treatment must be complemented with chemotherapy. KRAS mutations and microsatellite instability have been detected in these tumors. However, the response to treatment in patients without KRAS mutations va [...] ries and requires a better understanding. Aim: To determine the frequency and distribution of somatic point mutations in KRAS, BRAF and PIK3CA genes and microsatellite instability status (MSI) in patients with colon cancer (CC). Material and Methods: A prospective observational study of patients undergoing surgery for colon cancer. Tumor-derived DNA was analyzed by polymerase chain reaction (PCR) for the most frequent mutations of KRAS, BRAF and PIK3CA. PCR was also used to analyze MSI. Results: Fifty-eight patients with sporadic CC were analyzed, 16 showed KRAS mutations (G12R, G12D, G12V, G13D) and out of the 42 patients that did not show any mutation, 10 had mutations in BRAF (V600E) and PIK3CA (E542K, E545D, E545K, Q546E, H1047R). BRAF mutations alone or in combination with PIK3CA mutations were observed in 27% of high MSI tumors and in 2% of tumors without instability (p

  16. Case study on complex sporadic E layers observed by GPS radio occultations

    Science.gov (United States)

    Yue, X.; Schreiner, W. S.; Zeng, Z.; Kuo, Y.-H.; Xue, X.

    2015-01-01

    The occurrence of sporadic E (Es) layers has been a hot scientific topic for a long time. The GNSS (global navigation satellite system)-based radio occultation (RO) has proven to be a powerful technique for detecting the global Es layers. In this paper, we focus on some cases of complex Es layers based on the RO data from multiple missions processed in UCAR/CDAAC (University Corporation for Atmospheric Research (UCAR) the Constellation Observing System for Meteorology, Ionosphere, and Climate (COSMIC) Data Analysis and Archive Center (CDAAC)). We first show some examples of multiple Es layers occurred in one RO event. Based on the evaluations between colocated simultaneous RO events and between RO and lidar observations, it could be concluded that some of these do manifest the multiple Es layer structures. We then show a case of the occurrence of Es in a broad region during a certain time interval. The result is then validated by independent ionosondes observations. It is possible to explain these complex Es structures using the popular wind shear theory. We could map the global Es occurrence routinely in the near future, given that more RO data will be available. Further statistical studies will enhance our understanding of the Es mechanism. The understanding of Es should benefit both Es-based long-distance communication and accurate neutral RO retrievals.

  17. Sporadic Hirschsprung`s disease due to a novel nonsense mutation in the RET protooncogene

    Energy Technology Data Exchange (ETDEWEB)

    Carlson, K.M.; Donis-Keller, H.; Langer, J.C. [and others

    1994-09-01

    Hirschsprung`s disease (HSCR, aganglionic megacolon) is characterized by a lack of ganglion cells along variable lengths of the hindgut. This is most likely due to a failure of the progenitor cells (that are destined to become the ganglion cells of the submucosal and myenteric plexuses) to complete their distal migration in the colon. Recently, mutations in the RET protoocogene have been reported in association with HSCR. We report a novel nonsense mutation resulting in a severely truncated protein. Germline DNA from a panel of 6 HSCR patients was analyzed by SSCP for 20 exons of RET. Eight exons were also directly sequenced. We identified a novel mutation within RET exon 2. The mutation (TAC{sub 36}{yields}TAG{sub 36}), which occurs at nucleotide position 108, involves the replacement of tyrosine with a stop codon and results in a truncated 35 amino acid protein. This mutation is the most 5{prime} nonsense mutation reported thus far. Interestingly, the patient has no prior family history of HSCR and was also diagnosed with multiple developmental anomalies including dysplastic kidney. Recent gene targeting studies with mouse models have shown that RET is essential for normal renal development. However, a parallel phenotype has not been seen in other reported HSCR patients with RET mutations. The observations reported here provide evidence that RET plays a role in human renal development. Ongoing studies will determine the extent of RET involvement in sporadic cases of HSCR.

  18. RET single nucleotide polymorphism in Indonesians with sporadic Hirschsprung’s disease

    Directory of Open Access Journals (Sweden)

    Saryono

    2010-08-01

    Full Text Available The tyrosine kinase receptor RET, which is the protein product of the RET gene, is involved in the development of the mammalian nervous system that causes Hirschsprung’s disease (HSCR. RETs are cell surface molecules that are expressed in cells derived from the neural crest. The purpose of this study was to investigate the polymorphism of the RET gene in HSCR in the Yogyakarta population. Genomic DNA was extracted from surgically removed bowel tissues of 54 unrelated HSCR patients. Exon 2 of the RET gene was amplified by polymerase chain reaction (PCR and analyzed by restriction fragment length polymorphism (RFLP. Molecular results were compared with clinical performance of Hirschsprung patients. RET polymorphism was detected in exon 2 in all of the 54 Indonesian HSCR patients. The allelic distribution of the c135GàA polymorphism in the RET exon 2 indicated that the A allele was more frequent in patients than in control individuals (chi-square test, p= 0.001. Thus the RET variant allele A is over-represented in patients affected with the HSCR phenotype. Polymorphism of exon 2 of the RET gene was found in sporadic Hirschsprung’s disease in the Yogyakarta population, which suggests that the RET gene plays important roles in the pathogenesis of HSCR.

  19. Case series of probable sporadic Creutzfeldt-Jakob disease from Eastern India

    Directory of Open Access Journals (Sweden)

    Atanu Biswas

    2013-01-01

    Full Text Available Background: Creutzfeldt-Jakob disease is a rapidly progressive, fatal, transmissible neurodegenerative disorder caused by prion protein. It is still considered rare in countries like India. This is probably due to nonavailability of autopsy studies in majority of the center. The recent European diagnostic criterion for sporadic CJD (sCJD is useful for making an early diagnosis. Objective: To report a series of patients of probable sCJD from a neurology institute of eastern India. Materials and Methods: Patients of rapidly developing dementia fulfilling the diagnostic criteria for sCJD were included. All were investigated in detail to find out any possible treatable cause including electroencephalography (EEG, magnetic resonance imaging (MRI of brain, and cerebrospinal fluid analysis. Results: A total 10 patients of probable sCJD diagnosed using the European diagnostic criterion between December 2011 and January 2013. The clinical features are consistent with other reported series. While 60% of patients had the classical EEG findings, 100% had typical MRI features. Eight patients died within a mean duration of 4.56 months from the disease onset. Conclusions: The clinical features are similar to other reported series. Our observation raises question about the prevalence of this disease in India which needs more elaborate studies.

  20. The preclinical phase of the pathological process underlying sporadic Alzheimer's disease.

    Science.gov (United States)

    Braak, Heiko; Del Tredici, Kelly

    2015-10-01

    Abnormal tau lesions (non-argyrophilic pretangle material, argyrophilic neuropil threads, neurofibrillary tangles) in select types of neurons are crucial for the pathogenesis of sporadic Alzheimer's disease. Ongoing formation of these tau lesions persists into end-stage Alzheimer's disease and is not subject to remission. The early pretangle disease phase is a focus of increasing interest because only abnormal forms of the microtubule-associated protein tau are involved at that point and, in contrast to late-stage disease when amyloid-? deposition is present, this phase is temporally closer to the prevailing conditions that induce the pathological process underlying Alzheimer's disease. Extracellular and aggregated amyloid-? may only be produced under pathological conditions by nerve cells that contain abnormal tau. One potential trigger for tau protein hyperphosphorylation and conformational change in Alzheimer's disease may be the presence of a non-endogenous pathogen. Subsequently, a predictable regional distribution pattern of the tau lesions develops in phylogenetically late-appearing and ontogenetically late-maturing neurons that are connected via their axons. It is hoped that hypotheses drawn from these considerations, as well as from recent tau dissemination models, from studies of variant tau conformers, and from tau imaging will encourage the development of new preventative and disease-modifying strategies. PMID:26283673

  1. The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer's disease

    DEFF Research Database (Denmark)

    Bahl, Justyna Maria Czarna; Heegaard, Niels Henrik Helweg

    2009-01-01

    Laboratory markers have a prominent place among the diagnostic criteria for sporadic Creutzfeldt-Jakob disease (sCJD). Here we investigate the capability of protein 14-3-3, total-tau (t-tau), threonin-181-phosphorylated tau (p-tau), and neuron-specific enolase (NSE) in cerebrospinal fluid (CSF) together with the prion protein gene genotype to discriminate patients with sCJD (n=21) from neurological controls (n=164) and Alzheimer's disease (AD) patients (n=49). Low p-tau/t-tau ratio was the best single marker for sCJD with 90% specificity against neurological controls at 86% sensitivity whilst NSE was the least accurate with 79% sensitivity at 90% specificity. Many of the sCJD patients had extremely elevated t-tau values but normal values of the AD-marker p-tau. Protein 14-3-3 was very sensitive (95%) although the specificity was relatively low (75%). A combination of elevated t-tau concentration with the presence of 14-3-3 protein in CSF gave the best test specificity of 96% at 84% sensitivity. We conclude that the combination of more than one CSF marker for neurodegeneration can improve the diagnostic test accuracy for sCJD against neurological controls including patients with other dementias.

  2. Factors influencing the survival period in Japanese patients with sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Iwasaki, Yasushi; Akagi, Akio; Mimuro, Maya; Kitamoto, Tetsuyuki; Yoshida, Mari

    2015-10-15

    Although Japanese cases of sporadic Creutzfeldt-Jakob disease (sCJD) generally involve longer survival periods compared to those from other countries, details regarding the factors influencing survival are unclear. To determine the influence of certain factors on survival, we retrospectively assessed 51 Japanese MM1-type sCJD patients with respect to background, clinical course, and disease management. No significant differences were found between men and women, tracheotomy and nontracheotomy patients, or patients treated in public and other types of hospitals. Although the survival period of tube-fed patients was significantly longer than that of patients who were not tube fed, survival of patients fed via a nasal tube did not differ significantly from that of gastrostomy-fed patients. The proportion of tube-fed patients was 68.6% (35/51). Disease duration was not significantly associated with age or year of onset. However, it was associated with time from onset to first recognition of myoclonus, first recognition of periodic sharp-wave complexes on electroencephalogram, and progression to the akinetic mutism state. Mechanical ventilation was not performed for any patient. Because the total disease duration increased in cases with a slowly progressive clinical course as a natural outcome, we concluded that the most crucial factor contributing to the prolonged survival of Japanese sCJD patients was tube feeding once the akinetic mutism state had been reached. PMID:26143527

  3. Fine structure of sporadic sodium layer observed with a sodium lidar at Tromsø, Norway

    Science.gov (United States)

    Tsuda, T. T.; Nozawa, S.; Kawahara, T. D.; Kawabata, T.; Saito, N.; Wada, S.; Hall, C. M.; Oyama, S.; Ogawa, Y.; Suzuki, S.; Ogawa, T.; Takahashi, T.; Fujiwara, H.; Fujii, R.; Matuura, N.; Brekke, A.

    2011-09-01

    We report a sporadic sodium layer (SSL), in particular its fine structure, observed at 92-98 km between 20:00 and 23:30 UT (21:00-24:30 LT) on 11 January 2011 using a sodium lidar, which was installed in the European incoherent scatter (EISCAT) radar site at Tromsø, Norway (69.6°N, 19.2°E) in early 2010. The sodium lidar measurement with 5-sec time-resolution reveals the details of dramatic sodium-density increase as well as short-period wavelike structure in the SSL. The rate of increase of height-integrated sodium density at the beginning of the SSL event was 6.4-9.6 × 1010 m-2 s-1. Dominant oscillation periods in the wavelike structures were 7-11 min at 95-98 km and 3 min at 92-95 km. The calculated power spectral densities are well represented by power laws, implying the presence of the short-period waves and turbulence in the frequency range of 10-4-10-1 Hz.

  4. No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia

    DEFF Research Database (Denmark)

    Raitila, A; Georgitsi, M

    2007-01-01

    Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene were recently observed in patients with pituitary adenoma predisposition (PAP). Though AIP mutation-positive individuals with prolactin-, mixed growth hormone/prolactin-, and ACTH-producing pituitary adenomas as well as non-secreting pituitary adenomas have been reported, most mutation-positive patients have had growth hormone-producing adenomas diagnosed at relatively young age. Pituitary adenomas are also component tumors of some familial endocrine neoplasia syndromes such as multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). Genes underlying MEN1 and CNC are rarely mutated in sporadic pituitary adenomas, but more often in other lesions contributing to these two syndromes. Thus far, the occurrence of somatic AIP mutations has not been studied in endocrine tumors other than pituitary adenomas. Here, we have analyzed 32 pituitary adenomas and 79 other tumors of the endocrine system for somatic AIP mutations bydirect sequencing. No somatic mutations were identified. However, two out of nine patients with prolactin-producing adenoma were shown to harbor a Finnish founder mutation (Q14X) with a complete loss of the wild-type allele in the tumors. These results are in agreement with previous studies in that prolactin-producing adenomas are component tumors in PAP. The data also support the previous finding that somatic AIP mutations are not common in pituitary adenomas and suggest that such mutations are rare in other endocrine tumors as well.

  5. Geographical variation of sporadic Legionnaires' disease analysed in a grid model

    DEFF Research Database (Denmark)

    Rudbeck, M.; Jepsen, Martin Rudbeck

    2010-01-01

    The aim was to analyse variation in incidence of sporadic Legionnaires' disease in a geographical information system in three time periods (1990-2005) by the application of a grid model and to assess the model's validity by analysing variation according to grid position. Coordinates of the addresses at time of disease of 606 confirmed cases with Legionnaires' disease were obtained. The incidence was calculated in cells of 10 x 10 km in 25 different grids superimposed on a map of Denmark. A 95% and 99% threshold was applied to identify cells with excess incidence representing potential clusters. Four cells had excess incidence in all three time periods. The analysis in 25 different grid positions indicated a low risk of overlooking cells with excess incidence in a random grid. The coefficient of variation ranged from 0.08 to 0.11 independent of the threshold. By application of a random grid model we demonstrated that it was possible to detect small areas with excess incidence that were not detected in the present surveillance system

  6. Lympho-vascular invasion in BRCA related breast cancer compared to sporadic controls

    International Nuclear Information System (INIS)

    Germline mutations in the BRCA1 gene predispose to the development of breast cancer, exhibiting a specific histological phenotype. Identification of possible hallmarks of these tumors is important for selecting patients for genetic screening and provides inside in carcinogenetic pathways. Since BRCA1-associated breast cancers have pushing borders that prevent them from easily reaching vessels and are often of the medullary (like) type that is known to have a low rate of lympho-vascular invasion (LVI), we hypothesized that absence of LVI could characterize BRCA1 related breast cancer. A population of 68 BRCA1 related invasive breast cancers was evaluated for LVI by an experienced breast pathologist blinded to mutation status, and compared to a control group matched for age, grade and tumor type. LVI was present in 25.0% of BRCA1 related cases, compared to 20.6% of controls (P = 0.54, OR = 1.29, CI 0.58-2.78). LVI is frequent in BRCA1 germline mutation related breast cancers, but seems to occur as often in sporadic controls matched for age, grade and tumor type. Apparently, these hereditary cancers find their way to the blood and lymph vessels despite their well demarcation and often medullary differentiation

  7. Olivopontocerebellar atrophy in two adult cats, sporadic cases or new genetic entity.

    Science.gov (United States)

    Résibois, A; Poncelet, L

    2004-01-01

    Two otherwise healthy adult cats were presented with progressive cerebellar signs of different severity. Owners requested euthanasia. Necropsy disclosed whole cerebellum and pontine atrophy, with a severity paralleling the neurologic dysfunction. We used cell type-specific immunolabelings to characterize the lesions. The severity of the cerebellar cortex atrophy followed a general gradient from the midvermis toward the hemispheres and a local gradient from the depth of the folia toward their tip. Along these gradients, Purkinje cells were the first to disappear, followed by basket, Golgi, and stellate cells, and eventually by granule cells. Bergmann glia cells and unipolar brush cells were preserved. Pontine nuclei and the olivary complex were also severely depopulated. Neurons in the cerebellar nuclei, vestibular nuclei, and other cerebellar system-associated structures were preserved, as well as substantia nigra. Olivopontocerebellar atrophy (OPCA) in a domestic animal species was rarely reported. Some features allow tentative linking to either familial or sporadic OPCA of humans. However, the ordered disappearance of all cortical neuronal types has never been described before. Either this entity is cat specific or it might pinpoint the need for increased knowledge about differential gene expression depending on genetic background, i.e., among different species. It also would open prospects about gene product interactions within neurons. PMID:14715964

  8. Risk factors for sporadic infection with Salmonella Enteritidis, Denmark, 1997-1999

    DEFF Research Database (Denmark)

    MØlbak, Kåre; Neimann, Jacob

    2002-01-01

    In a prospective case-control study of sporadic Salmonella Enteritidis infection in Denmark (1997-1999), foreign travel was reported by 25% of 455 case patients and 8% of 507 controls (odds ratio (OR) = 3.7, 95% confidence interval (CI): 2.4, 5.5). Among nontravelers, 80% of 335 cases and 81% of 467 controls had consumed eggs or dishes containing raw or undercooked eggs during the week before disease onset or interview, while 35% of cases and 19% of controls had incurred this exposure the day before onset or interview (OR = 2.2, 95% CI: 1.5, 3.1). Specific exposures included consumption of buttermilk dessert (OR = 11.7), homemade ice cream (OR = 4.3), raw eggs (OR = 3.4), and eggs fried "sunny side up" (OR = 2.5). Among persons who had used eggs in the week before disease onset or interview, eggs from battery laying hens were associated with disease (white eggs: OR = 2.4, brown eggs: OR = 1.9), whereas consumption of pasteurized eggs tended to be protective (OR = 0.3). The study confirmed that eggs are the principal source of S. Enteritidis in Denmark. This conclusion was reached through the use of an exposure time window that corresponds to the most relevant incubation period rather than the maximum incubation period. The authors recommend this method in studies that have the objective of determining risk associated with common exposures.

  9. Clinical and Genetic Aspects of Sporadic Non-Medullar Thyroid Cancer

    Directory of Open Access Journals (Sweden)

    U Rumjanzeva

    2006-03-01

    Full Text Available The role of somatic mutations in sporadic thyroid cancer is unclear today. Probably they coming out as aetiological factors in carcinogenesis as well as, respectfully to many authors, can to participate in TC pathogenesis and to determine the clinical course and prognosis of the disease. For today as main oncogenes taking part in initiation of thyroid malignant tumors are considered: RET/PTC, TRK, PTEN, P53, RAS, MET, PPAR?. By means of genetic investigations scientists are trying to solve problems with thyroid cancer differentiated diagnostics (cytokeratin-19, cytokeratin-20, mesothelial cells antigen (Hector Battifora MEsotelial (cell or HBME-1, loss of heterozigitoty (LOH in short arm of 3 chromosome (gene VHL -von Hippel Lindau, 3?26. Recently in foreign literature appeared reports of activated mutations in gene BRAF which most frequently are occurred in melanoma and papillary TC. Prognosis of thyroid cancer may reflected by the LOH as a biological breakage as well as changes of tumor suppressive gene P53 which fraught with decrease of disease prognosis. Thus, both researchers and clinicians have many questions concerning the role of genome, particularly in order to precise of genetic abnormality influence on tumor growth and therefore for assessment of clinical prognosis and with aim to chose adequate treatment tactic in each case.

  10. Energetics and structure of the lower E region associated with sporadic E layer

    Directory of Open Access Journals (Sweden)

    K.-I. Oyama

    2008-09-01

    Full Text Available The electron temperature (Te, electron density (Ne, and two components of the electric field were measured from the height of 90 km to 150 km by one of the sounding rockets launched during the SEEK-2 campaign. The rocket went through sporadic E layer (Es at the height of 102 km–109 km during ascent and 99 km–108 km during decent, respectively. The energy density of thermal electrons calculated from Ne and Te shows the broad maximum in the height range of 100–110 km, and it decreases towards the lower and higher altitudes, which implies that a heat source exists in the height region of 100 km–110 km. A 3-D picture of Es, that was drawn by using Te, Ne, and the electric field data, corresponded to the computer simulation; the main structure of Es is projected to a higher altitude along the magnetic line of force, thus producing irregular structures of Te, Ne and electric field in higher altitude.

  11. Lympho-vascular invasion in BRCA related breast cancer compared to sporadic controls

    Directory of Open Access Journals (Sweden)

    van der Wall Elsken

    2010-04-01

    Full Text Available Abstract Background Germline mutations in the BRCA1 gene predispose to the development of breast cancer, exhibiting a specific histological phenotype. Identification of possible hallmarks of these tumors is important for selecting patients for genetic screening and provides inside in carcinogenetic pathways. Since BRCA1-associated breast cancers have pushing borders that prevent them from easily reaching vessels and are often of the medullary (like type that is known to have a low rate of lympho-vascular invasion (LVI, we hypothesized that absence of LVI could characterize BRCA1 related breast cancer. Methods A population of 68 BRCA1 related invasive breast cancers was evaluated for LVI by an experienced breast pathologist blinded to mutation status, and compared to a control group matched for age, grade and tumor type. Results LVI was present in 25.0% of BRCA1 related cases, compared to 20.6% of controls (P = 0.54, OR = 1.29, CI 0.58-2.78. Conclusion LVI is frequent in BRCA1 germline mutation related breast cancers, but seems to occur as often in sporadic controls matched for age, grade and tumor type. Apparently, these hereditary cancers find their way to the blood and lymph vessels despite their well demarcation and often medullary differentiation.

  12. Maxillary sporadic Burkitt?s lymphoma associated with neuro-orbital involvement in an Indian male

    Directory of Open Access Journals (Sweden)

    Rakesh Kumar Manne

    2014-01-01

    Full Text Available Burkitt?s lymphoma (BL is the fastest growing malignancy of the lymphoreticular system to affect humans and has a potential ability to double in size every day. A case of maxillary sporadic BL (sBL associated with neuro-orbital involvement in an Indian male is presented. sBL initially presented as maxillary swelling with no obvious dental and periodontal changes. Histological specimen from incisional biopsy revealed a round cell malignant tumor and immunohistochemistry reactions favored nonHodgkin?s lymphoma consistent with BL. Four weeks later, patient presented with orbital involvement as diplopia, sixth cranial nerve palsy, and medial rectus palsy. Chemotherapy regimen according to LMB 89 protocol was started. During chemotherapy regimen patient showed bradycardia and Babinski response, suggestive of central nervous system involvement. sBL associated with orbital involvement is extremely rare and only seven cases have been reported. Our case showed unusual presentation; despite the aggressive tumor did not show any common clinical, radiological, and hematological findings. We also discussed the role of oral medicine specialist, importance of early diagnosis, and prompt referral in management of maxillary sBL.

  13. A field guide to pandemic, epidemic and sporadic clones of methicillin-resistant Staphylococcus aureus.

    LENUS (Irish Health Repository)

    Monecke, Stefan

    2011-04-01

    In recent years, methicillin-resistant Staphylococcus aureus (MRSA) have become a truly global challenge. In addition to the long-known healthcare-associated clones, novel strains have also emerged outside of the hospital settings, in the community as well as in livestock. The emergence and spread of virulent clones expressing Panton-Valentine leukocidin (PVL) is an additional cause for concern. In order to provide an overview of pandemic, epidemic and sporadic strains, more than 3,000 clinical and veterinary isolates of MRSA mainly from Germany, the United Kingdom, Ireland, France, Malta, Abu Dhabi, Hong Kong, Australia, Trinidad & Tobago as well as some reference strains from the United States have been genotyped by DNA microarray analysis. This technique allowed the assignment of the MRSA isolates to 34 distinct lineages which can be clearly defined based on non-mobile genes. The results were in accordance with data from multilocus sequence typing. More than 100 different strains were distinguished based on affiliation to these lineages, SCCmec type and the presence or absence of PVL. These strains are described here mainly with regard to clinically relevant antimicrobial resistance- and virulence-associated markers, but also in relation to epidemiology and geographic distribution. The findings of the study show a high level of biodiversity among MRSA, especially among strains harbouring SCCmec IV and V elements. The data also indicate a high rate of genetic recombination in MRSA involving SCC elements, bacteriophages or other mobile genetic elements and large-scale chromosomal replacements.

  14. Computed tomographic features of 23 sporadic cases with Legionella pneumophila pneumonia

    International Nuclear Information System (INIS)

    Objective: To describe the chest computed tomographic (CT) findings of Legionella pneumophila pneumonia. Methods: CT scans obtained from 23 sporadic cases of L. pneumophila pneumonia were retrospectively reviewed. Chest CT findings were analyzed with regard to the patterns and distributions of pulmonary abnormalities. We also analyzed the histopathology of lungs from guinea pigs with experimentally induced L. pneumophila pneumonia. Results: Consolidation and ground-glass opacity (GGO) were the main findings of CT scans in L. pneumophila pneumonia. The distribution of opacities was categorized as non-segmental (n = 20) and segmental (n = 4). Non-segmental distribution may follow an onset of segmental distribution. Pleural effusion was observed in 14 (58.3%) patients, of which 13 were accompanied with non-segmental distribution. Abscess formation was observed in only one immunocompromised patient. In the animal pneumonia model, the lesions comprised of terminal bronchioles, alveolar spaces, and interstitia. Small bacilli were observed to be contained by many macrophages within the alveoli. Conclusion: Non-segmental distribution was significantly more frequent than segmental distribution in L. pneumophila pneumonia. It is possible that L. pneumophila infection initially results in segmental pneumonia, which progresses to typical non-segmental distribution.

  15. Integrating conservation and development at the National Marine Park of Alonissos, Northern Sporades, Greece: perception and practice.

    Science.gov (United States)

    Oikonomou, Zoi-Sylvia; Dikou, Angela

    2008-11-01

    Available information on the socioeconomic implications of marine protected areas (MPAs) for the socioculturally diverse Mediterranean region is scant. The National Marine Park of Alonissos, Northern Sporades (NMPANS), Greece was established in 1992 as a foundation for the conservation of the endangered Mediterranean monk seal Monachus monachus. The evolution of the degree of acceptance of and satisfaction from the NMPANS by involved stakeholder groups (fishermen, tourism operators, hoteliers and owners of rooms to let, governmental bodies, nongovernmental bodies, students, domestic and foreign tourists) were investigated 13 years after its establishment using written questionnaires delivered during personal interviews. The initial positive attitude of local professionals for the NMPANS has eroded due to the unsatisfactory fulfillment of expectations for socioeconomic development. Fishermen expressed dissatisfaction with, mistrust toward, and a reluctancy to communicate with the NMPANS's management body. They believe that the fishery areas have decreased in actual geographic area because of the prohibitive measures; fish stocks are declining; compensation for damage to fishery equipment by the Mediterranean monk seal and for the prohibitive measures should be provided; and stricter enforcement of regulations should take place. On the other hand, tourism operators, who organize trips for tourists to the NMPANS, unanimously reported direct economic benefits. Furthermore, there was a disparity in the perception of socioeconomic benefits derived from the NMPANS between governmental bodies and local stakeholders. The governmental bodies and the nongovernmental organization MOm-Hellenic Society for the Study and Protection of the Monk Seal postulated that there had been considerable socioeconomic benefits for the local community of Alonissos due to the establishment of the NMPANS, whereas the local nongovernmental organization Ecological and Cultural Movement of Alonissos claimed benefits were scant. Tourists (domestic and foreign) believe that the NMPANS is not the main attraction to Alonissos Island but is part of a composite, including serenity, aesthetic beauty, and small-scale tourism development, which can turn Alonissos Island into an ideal eco-tourism destination; a common aspiration for both the tourists and the local community by general consensus. The aim of the NMPANS to integrate conservation and development lies in (1) the effectiveness of the NMPANS management body in formulating a strategic management plan that would accommodate stakeholders' interests and aspirations and (2) a national policy of conservation and enhancement of natural resources with consistency and continuity. Quantitative assessment of the socioeconomic effectiveness of the Mediterranean MPAs using a common methodology would facilitate the identification of intraregional variation and better planning for the network of MPAs in the Mediterranean. PMID:18626688

  16. Integrating Conservation and Development at the National Marine Park of Alonissos, Northern Sporades, Greece: Perception and Practice

    Science.gov (United States)

    Oikonomou, Zoi-Sylvia; Dikou, Angela

    2008-11-01

    Available information on the socioeconomic implications of marine protected areas (MPAs) for the socioculturally diverse Mediterranean region is scant. The National Marine Park of Alonissos, Northern Sporades (NMPANS), Greece was established in 1992 as a foundation for the conservation of the endangered Mediterranean monk seal Monachus monachus. The evolution of the degree of acceptance of and satisfaction from the NMPANS by involved stakeholder groups (fishermen, tourism operators, hoteliers and owners of rooms to let, governmental bodies, nongovernmental bodies, students, domestic and foreign tourists) were investigated 13 years after its establishment using written questionnaires delivered during personal interviews. The initial positive attitude of local professionals for the NMPANS has eroded due to the unsatisfactory fulfillment of expectations for socioeconomic development. Fishermen expressed dissatisfaction with, mistrust toward, and a reluctancy to communicate with the NMPANS’s management body. They believe that the fishery areas have decreased in actual geographic area because of the prohibitive measures; fish stocks are declining; compensation for damage to fishery equipment by the Mediterranean monk seal and for the prohibitive measures should be provided; and stricter enforcement of regulations should take place. On the other hand, tourism operators, who organize trips for tourists to the NMPANS, unanimously reported direct economic benefits. Furthermore, there was a disparity in the perception of socioeconomic benefits derived from the NMPANS between governmental bodies and local stakeholders. The governmental bodies and the nongovernmental organization MOm-Hellenic Society for the Study and Protection of the Monk Seal postulated that there had been considerable socioeconomic benefits for the local community of Alonissos due to the establishment of the NMPANS, whereas the local nongovernmental organization Ecological and Cultural Movement of Alonissos claimed benefits were scant. Tourists (domestic and foreign) believe that the NMPANS is not the main attraction to Alonissos Island but is part of a composite, including serenity, aesthetic beauty, and small-scale tourism development, which can turn Alonissos Island into an ideal eco-tourism destination; a common aspiration for both the tourists and the local community by general consensus. The aim of the NMPANS to integrate conservation and development lies in (1) the effectiveness of the NMPANS management body in formulating a strategic management plan that would accommodate stakeholders’ interests and aspirations and (2) a national policy of conservation and enhancement of natural resources with consistency and continuity. Quantitative assessment of the socioeconomic effectiveness of the Mediterranean MPAs using a common methodology would facilitate the identification of intraregional variation and better planning for the network of MPAs in the Mediterranean.

  17. E-region wind-driven electrical coupling of patchy sporadic-E and spread-F at midlatitude

    Directory of Open Access Journals (Sweden)

    C. Haldoupis

    2005-09-01

    Full Text Available This paper investigates the role of neutral winds in the generation of relatively large polarization electric fields across patchy sporadic-E layers, which then map upward to the F region, to create conditions for medium-scale spread-F. The calculations are based on an analytical model that uses the current continuity equation and field-aligned current closures to the F region in order to describe quantitatively a Hall polarization process inside sporadic-E plasma patches during nighttime. In applying this model we use experimentally known values for E and F region, conductances, the ambient electric fields and prevailing neutral winds, in order to estimate the polarization fields that build up inside sporadic-E. It is found that the relatively strong west-southwest neutral winds during summer nighttime can provide the free energy for the generation of sizable polarization electric fields, which have comparable eastward and north-upward components and reach values of several mV/m. Given that the sporadic-E patches have sizes from a few to several tens of kilometers, the polarization fields can map easily to the F region bottomside where they impact ExB plasma uplifts and westward bulk motions, in line with key observational properties of medium-scale spread-F. However, the present simple model needs further development to also include wind forcing of the F region plasma and possible polarization processes inside spread-F. Keywords. Ionosphere (Electric fields and currents; Ionospheric irregularities; Mid-latitude ionosphere

  18. Distinct cerebrospinal fluid amyloid ? peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease

    OpenAIRE

    Galasko Douglas; Hanse Eric; Gustavsson Mikael K; Harmsen Andreas; Hansson Oskar; Buchhave Peder; Daborg Jonny; Buerger Katharina; Ringman John M; Andreasson Ulf; Portelius Erik; Hampel Harald; Blennow Kaj; Zetterberg Henrik

    2010-01-01

    Abstract Background Alzheimer's disease (AD) is associated with deposition of amyloid ? (A?) in the brain, which is reflected by low concentration of the A?1-42 peptide in the cerebrospinal fluid (CSF). There are at least 15 additional A? peptides in human CSF and their relative abundance pattern is thought to reflect the production and degradation of A?. Here, we test the hypothesis that AD is characterized by a specific CSF A? isoform pattern that is distinct when comparing sporadic AD (SAD...

  19. Source attribution of human campylobacteriosis using a meta-analysis of case-control studies of sporadic infections

    DEFF Research Database (Denmark)

    Coutinho Calado Domingues, Ana Rita; Pires, Sara Monteiro; Hisham Beshara Halasa, Tariq; Hald, Tine

    2012-01-01

    Campylobacter spp. is a widespread and important cause of human illness worldwide. Disease is frequently associated with foodborne transmission, but other routes of exposure, such as direct contact with live animals and person-to-person transmission, are also recognized. Identifying the most important sources of human disease is essential for prioritizing food safety interventions and setting public health goals. Numerous case-control studies of sporadic infections of campylobacteriosis have bee...

  20. Sporadic Bovine Leukosis: A Description of Eight Calves Received at Animal Diseases Research Institute from 1974-1980

    OpenAIRE

    Bundza, A; GREIG, A.S.; Chander, S.; Dukes, T. W.

    1980-01-01

    Eight calves with sporadic bovine leukosis are described. The common features were generalized lymphadenopathy, visceral involvement and raised total leukocyte and lymphocyte counts. Agar gel immunodiffusion tests for bovine leukemia virus antibodies were negative in eight animals and in all animals from three herds of origin. Lymphocytic nuclear pockets were found in the tissues of one calf but attempts to isolate bovine leukemia virus from two animals were unsuccessful.

  1. Development of Sporadic Microsatellite Instability in Colorectal Tumors Involves Hypermethylation at Methylated-In-Tumor Loci in Adenoma

    OpenAIRE

    de Maat, Michiel F.G.; Narita, Norihiko; Benard, Anne; Yoshimura, Tetsunori; Kuo, Christine; Tollenaar, Rob A E M; de Miranda, Noel F. C. C.; Turner, Roderick R.; Van De Velde, Cornelis J.H.; Morreau, Hans; Hoon, Dave S.B

    2010-01-01

    Microsatellite instability (MSI) and genomic hypermethylation of methylated-in-tumor (MINT) loci are both strong prognostic indicators in a subgroup of patients with sporadic colorectal cancer (CRC). The present study was designed to determine whether the methylation of MINT loci during the progression of adenoma to CRC is related to MSI in CRC cases. Methylation index (MI) was measured by absolute quantitative assessment of methylated alleles at seven MINT loci in primary CRC with contiguous...

  2. Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13.

    OpenAIRE

    Cleton-Jansen, A M; Collins, N.; Lakhani, S.R.; Weissenbach, J; Devilee, P; Cornelisse, C.J.; Stratton, M.R.

    1995-01-01

    Loss of heterozygosity (LOH) on chromosome 13 occurs on 25-30% of breast tumours. This may reflect the inactivation of the retinoblastoma susceptibility gene RB1. However, recently another candidate tumour-suppressor gene has been identified on chromosome 13 by linkage analysis, the breast cancer susceptibility gene BRCA2. To investigate the involvement of BRCA2 in sporadic breast cancer 200 breast tumours were tested for LOH on chromosome band 13q12-q14, using 11 highly polymorphic microsate...

  3. HNPCC versus sporadic microsatellite-unstable colon cancers follow different routes toward loss of HLA class I expression

    Directory of Open Access Journals (Sweden)

    Fleuren Gert

    2007-02-01

    Full Text Available Abstract Background Abnormalities in Human Leukocyte Antigen (HLA class I expression are common in colorectal cancer. Since HLA expression is required to activate tumor antigen-specific cytotoxic T-lymphocytes (CTL, HLA class I abnormalities represent a mechanism by which tumors circumvent immune surveillance. Tumors with high microsatellite instability (MSI-H are believed to face strong selective pressure to evade CTL activity since they produce large amounts of immunogenic peptides. Previous studies identified the prevalence of HLA class I alterations in MSI-H tumors. However, those reports did not compare the frequency of alterations between hereditary and sporadic MSI-H tumors neither the mechanisms that led to HLA class I alterations in each subgroup. Methods To characterize the HLA class I expression among sporadic MSI-H and microsatellite-stable (MSS tumors, and HNPCC tumors we compared immunohistochemically the expression of HLA class I, ?2-microglobulin (?2m, and Antigen Processing Machinery (APM components in 81 right-sided sporadic and 75 HNPCC tumors. Moreover, we investigated the genetic basis for these changes. Results HLA class I loss was seen more frequently in MSI-H tumors than in MSS tumors (p ?2m and APM components genes. Conclusion HLA class I aberrations are found at varying frequencies in different colorectal tumor types and are caused by distinct genetic mechanisms. Chiefly, sporadic and hereditary MSI-H tumors follow different routes toward HLA class I loss of expression supporting the idea that these tumors follow different evolutionary pathways in tumorigenesis. The resulting variation in immune escape mechanisms may have repercussions in tumor progression and behavior.

  4. Source attribution of human salmonellosis using a meta-analysis of case-control studies of sporadic infections

    DEFF Research Database (Denmark)

    Coutinho Calado Domingues, Ana Rita; Pires, Sara Monteiro; Hisham Beshara Halasa, Tariq; Hald, Tine

    2012-01-01

    Salmonella is an important cause of human illness. Disease is frequently associated with foodborne transmission, but other routes of exposure are recognized. Identifying sources of disease is essential for prioritizing public health interventions. Numerous case-control studies of sporadic salmonellosis have been published, often using different methodologies and settings. Systematic reviews consist of a formal process for literature review focused on a research question. With the objective of id...

  5. Evidence for an association of TP53 codon 72 polymorphism with sporadic colorectal cancer risk in Isfahan

    OpenAIRE

    Mehdi Nikbakht Dastjerdi; Mansoor Salehi; Mohammad Reza Mohajeri; Fereshteh Morsali; Hamid Mirohammad Sadeghi; Ebrahim Esfandiary

    2008-01-01

    • BACKGROUND: A common polymorphism at codon 72 of TP53 gene has been associated with increased risk for many human cancers. We studied this TP53 polymorphism in colorectal adenocarcinomas in small population selected from Isfahan city.
    • METHODS: Samples: We undertook a case-control study on 180 controls and 180 paraffin block specimens of sporadic colorectal adenocarcinomas. PCR amplification of ...

    • P14ARF deficiency and its correlation with overexpression of p53/MDM2 in sporadic vestibular schwannomas.

      Science.gov (United States)

      Chen, Ying; Wang, Zhao-Yan; Wu, Hao

      2015-09-01

      Recent studies have shed considerable light into schwannomas. To date, only merlin has been identified as a hallmark or pathogenesis of both sporadic and NF2-related schwannomas. Here, we show, by immunoblot and immunohistochemical analyses of 58 sporadic vestibular schwannomas, that upregulation of p53 was observed in 90 % of tumors examined. No p53 mutations were found in 12 % tumors analyzed. Expression of p14ARF was negative in 95 % of tumors, while overexpression of MDM2 was found in all specimens. Aberrant DNA hypermethylation of the p14ARF promoter was observed in three of seven tumors examined (43 %), associated with remarkably decreased mRNA levels. The very high degree of concordance in the aberrations of the p14ARF/MDM2/p53 pathway in this tumor may be considered to be a new player in the pathogenesis of sporadic vestibular schwannomas. Moreover, expression of p21 (waf1) was negative in all tumors, suggesting that the aberration of this pathway is associated with greater attenuation of p21-mediated signals that are critical for growth inhibition. These data are in agreement with the model in RT-4 rat schwannoma cells: i.e., overexpression of ARF was associated with accumulation of p21 expression both at protein and mRNA levels. ShRNA knock-down of p53 expression attenuated p21-mediated increase in cellular arrest in the G1-phase, suggesting that p14ARF regulates p21 protein levels through a p53-dependent pathway. Thus, this study reveals a high degree of concordance in the aberrations of the p14ARF/MDM2/p53 pathway with the development of sporadic vestibular schwannomas. PMID:24964769

    • Common Variations in BMP4 Confer Genetic Susceptibility to Sporadic Congenital Heart Disease in a Han Chinese Population

      OpenAIRE

      Qian, Bo; Mo, Ran; Da, Min; Peng, Wei; Hu, Yuanli; Mo, Xuming

      2014-01-01

      Congenital heart disease (CHD) is the most common birth defect in humans. The genetic causes of sporadic CHD remain largely unknown. Bone morphogenetic protein 4 (BMP4), a member of the transforming growth factor-? (TGF-?) family, is required for normal heart development. Loss of BMP4 gene expression in mice is associated with septal defects, defective endocardial cushion remodeling, and abnormal semilunar valve formation. This study evaluated the contribution of single nucleotide polymorphis...

    • PAX9 polymorphism and susceptibility to sporadic non-syndromic severe anodontia: a case-control study in southwest China

      Scientific Electronic Library Online (English)

      Jing, WANG; Yuanzhi, XU; Jing, CHEN; Feiyu, WANG; Renhuan, HUANG; Songtao, WU; Linjing, SHU; Jingyi, QIU; Zhi, YANG; Junjie, XUE; Raorao, WANG; Jilin, ZHAO; Wenli, LAI.

      2013-06-01

      Full Text Available Our research aimed to look into the clinical traits and genetic mutations in sporadic non-syndromic anodontia and to gain insight into the role of mutations of PAX9, MSX1, AXIN2 and EDA in anodontia phenotypes, especially for the PAX9. Material and Methods The female proband and her fa [...] mily members from the ethnic Han families underwent complete oral examinations and received a retrospective review. Venous blood samples were obtained to screen variants in the PAX9, MSX1, AXIN2, and EDA genes. A case-control study was performed on 50 subjects with sporadic tooth agenesis (cases) and 100 healthy controls, which genotyped a PAX9 gene polymorphism (rs4904210). Results Intra-oral and panoramic radiographs revealed that the female proband had anodontia denoted by the complete absence of teeth in both the primary and secondary dentitions, while all her family members maintained normal dentitions. Detected in the female proband were variants of the PAX9 and AXIN2 including A240P (rs4904210) of the PAX9, c.148C>T (rs2240308), c.1365A>G (rs9915936) and c.1386C>T (rs1133683) of the AXIN2. The same variants were present in her unaffected younger brother. The PAX9 variations were in a different state in her parents. Mutations in the MSX1 and EDA genes were not identified. No significant diferences were found in the allele and genotype frequencies of the PAX9 polymorphism between the controls and the subjects with sporadic tooth agenesis. Conclusions These results suggest that the association of A240P with sporadic tooth agenesis still remains obscure, especially for different populations. The genotype/phenotype correlation in congenital anodontia should be verified.

    • Description of a simple test for CADASIL disease and determination of mutation frequencies in sporadic ischaemic stroke and dementia patients

      OpenAIRE

      Wang, T.; Sharma, S.(Physics Department, University of Jammu, Jammu, India); Fox, N.; ROSSOR, M; BROWN, M; Sharma, P.

      2000-01-01

      Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare inherited adult onset disease characterised most commonly by cerebral ischaemic events and dementia. It is caused by mutations in the Notch3 gene with most clustering in exons 3 and 4. Whether these mutations have any influence on common sporadic ischaemic stroke or dementia cases has not been investigated, partly hampered by the lack of a readily usable genetic ...

    • Multiple primary cutaneous melanomas in patients with FAMMM syndrome and sporadic atypical mole syndrome (AMS): what's worse?

      Science.gov (United States)

      Tchernev, Georgi; Ananiev, Julian; Cardoso, José-Carlos; Chokoeva, Anastasiya Atanasova; Philipov, Stanislav; Penev, Plamen Kolev; Lotti, Torello; Wollina, Uwe

      2014-08-01

      Atypical Mole Syndrome is the most important phenotypic risk factor for cutaneous melanoma, a malignancy that accounts for about 80% of deaths from skin cancer. Since early diagnosis of melanoma is of great prognostic relevance, the identification of Atypical Mole Syndrome carriers (sporadic and familial) is essential, as well as the recommendation of preventative measures that must be undertaken by these patients.We report two rare cases concerning patients with multiple primary skin melanomas in the setting of a familial and a sporadic syndrome of dysplastic nevi: the first patient is a 67-year-old patient with a history of multiple superficial spreading melanomas localized on his back. The second patient presented with multiple primary melanomas in advanced stage in the context of the so-called sporadic form of the syndrome of dysplastic nevi-AMS (atypical mole syndrome). In the first case, excision of the melanomas was carried out with an uneventful post-operative period. In the second case, disseminated metastases were detected, involving the right fibula, the abdominal cavity as well as multiple lesions in the brain. The patient declined BRAF mutation tests as well as chemotherapy or targeted therapies, and suffered a rapid deterioration in his general condition leading to death. We classified the second case as a sporadic form of the atypical mole syndrome, associated with one nodular and two superficial spreading melanomas.There are no data in the literature to allow us to understand if, in patients with multiple primary melanomas, there is any difference in terms of prognosis between those with and without a family history of a similar phenotype. To answer this and other questions related to these rare cases, further studies with a significant number of patients should be carried out. PMID:25096163

    • Uniparentalism in Sporadic Colorectal Cancer is Independent of Imprint Status, and Coordinate for Chromosomes 14 and 18

      OpenAIRE

      Darbary, Huferesh K.; Dutt, Smitha S; Sait, Sheila J.; Norma J. Nowak; Heinaman, Roy E.; Stoler, Daniel L.; Anderson, Garth R.

      2009-01-01

      Our previous allelotyping studies of 59 sporadic colorectal cancers revealed that loss of heterozygosity is most frequent for regions of chromosomes 14 and 18. Yet subsequent BAC microarray comparative genomic hybridization studies of the same tumor DNAs showed no corresponding pattern of copy number alteration for chromosome 14. To clarify this apparent discrepancy, we utilized hybridization to SNP microarrays; this revealed frequent uniparentalism for chromosome 14 and for chromosome 18. Ba...

    • The genetics of dementias, Part 3: A molecular basis for the multifactorial inheritance of sporadic Alzheimer’s disease

      Directory of Open Access Journals (Sweden)

      Anna Kowalska

      2009-12-01

      Full Text Available The majority of Alzheimer’s disease cases, i.e. more than 85?0of the whole population of patients, can be referred to as the sporadic form of the disease, with a negative family history and complex inheritance. As the genetic background of sporadic Alzheimer’s disease is still largely unknown., strategies based on individual genetic risk profiling for either early prediction of the disease or its therapy and prevention are not possible. The APOE*4 allele of the gene for apolipoprotein E is still the only completely confirmed risk factor. Screening for new genetic risk factors with the use of genetic association analysis has many methodological difficulties and limitations. New combined approaches including genomics, proteogenomics, pharmacogenomics, epigenomics, and bioinformatics have to been applied in the future search for a molecular basis of AD. Genetic defects do not fully explain the complexity of the etiopathogenesis of this disease. It is rather certain that environmental factors (through epigenetic modifications in the patient’s epigenome also have impact on the initiation of neurodegeneration processes. The identification of new genetic and environmental risk factors would make it possible to understand epistatic processes, for example interactions between genes and between genes and environmental factors, responsible for the complex etiology and multifactorial inheritance of sporadic Alzheimer’s disease.

    • Currents and turbulence in and near mid-latitude sporadic E-layers caused by strong acoustic impulses

      Directory of Open Access Journals (Sweden)

      K. Schlegel

      Full Text Available The generation of Hall and field-aligned currents in and in the vicinity of nighttime mid-latitude sporadic E-layers moving under the action of strong acoustic impulses of seismic, anthropogenic, or meteorological nature is considered in a model presented in this paper. The influence of the electrical polarization fields caused by charges at the horizontal edges of the sporadic layers and the finite conductivity of the external circuits are also taken into account. The theoretical model is applicable for ionospheric altitudes between 95 and 130 km. The estimates show that under certain conditions in a system with two sporadic E-layers, one of which is the current generator and the other is situated in the external circuit, the Farley-Buneman instability could be generated. On the other hand, observations show that Farley-Buneman waves are likely responsible for the infrequent echoes of mid-latitude 50-MHz backscatter with Doppler velocities near 300 m s–1. The possibility exists that the proposed current-generator model is at the origin of the observed mid-latitude Farley-Buneman waves.

    • B7-H4 gene polymorphisms are associated with sporadic breast cancer in a Chinese Han population

      International Nuclear Information System (INIS)

      B7-H4, a co-inhibitory molecule of the B7 family, can restrain T cell proliferation, cytokine secretion and the development of cytotoxicity. B7-H4 is expressed in tumor tissues at a higher level than in normal tissues, and has a potential effect to protect tumors from anti-tumor immune responses. This case-control study was carried out to determine the potential influences of B7-H4 gene polymorphisms on the susceptibility and progression of breast cancer in Han women of Northeast China. We genotyped three B7-H4 variants (rs10754339, rs10801935 and rs3738414) and tagged all common haplotypes (frequency greater than or equal to 1%) in a Chinese population consisting of 500 breast cancer cases and 504 control individuals matched for age. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to determine the genotypes. Our data indicated that, compared with the common genotype and allele of each SNP, the rs10754339 AG genotype and G allele showed a significantly increased risk of breast cancer (OR = 1.455, 95% CI 1.119-1.892; OR = 1.325, 95% CI 1.073-1.637, respectively). The rs10801935 CC genotype, the rs3738414 AA genotype and the rs3738414 A allele were associated with a significantly decreased risk of breast cancer (OR = 0.328, 95% CI 0.145-0.739; OR = 0.412, 95% CI 0.203-0.835; OR = 0.698, 95% CI 0.564-0.864, respectively). Additionally, the rs10754339 GG genotype was significantly associated with lymph node metastasis and PR status, and the G allele and the AG genotype were respectively associated with lymph node metastasis and ER status. In haplotype analysis, we observed that compared with the AAG haplotype, the AAA haplotype showed a significantly decreased risk of breast cancer (OR = 0.689, 95% CI 0.539-0.881), but the GAG haplotype was associated with a significantly increased risk of breast cancer (OR = 1.511, 95% CI 1.125-2.031). And the AAA and the GCG haplotypes also respectively have significant influences on tumor size and ER status. These results suggest that B7-H4 gene polymorphism may contribute to the sporadic breast cancer risk and prognosis in Chinese Han women

    • Wave-associated sporadic neutral layers in the upper atmosphere / Camadas neutras esporádicas na alta atmosfera associadas com ondas atmosféricas

      Scientific Electronic Library Online (English)

      B. R., Clemesha; P. P., Batista; D. M., Simonich.

      1997-11-01

      Full Text Available Camadas esporádicas neutras, com espessuras entre algumas centenas de metros e vários quilômetros, são observados por radar de laser na mesma faixa de altura que a E-esporádica ionosférica. Camadas Ns foram observadas pela primeira vez em sódio, 20 anos atrás, e mais recentemente foram observadas em [...] potássio, ferro e cálcio. Como no caso de Es existe uma ligação forte com ondas atmosféricas, e vários estudos mostraram uma possível conexão com oscilações de marés na baixa termosfera. Observações recentes em São José dos Campos mostraram que camadas de sódio esporádicas freqüentemente ocorrem nas alturas dos picos da concentração de sódio produzidos por uma onda atmosférica. Em alguns casos, onde o comprimento de onda vertical da oscilação é curto, pode-se identificar até 3 oscilações completas, sendo que e a camada esporádica sempre se forma no pico de altura maior. Nos casos de eventos de longa duração, observa-se uma propagação da camada Ns no sentido de alturas menores, acompanhando a propagação de fase da onda atmosférica. Baseado nestas observações propõe-se que a recombinação de íons de sódio seja responsável pela formação das camadas esporádicas. Abstract in english Sporadic neutral layers, with thicknesses between a few hundred meters and several kilometers, are observed by lidar in the same height range as ionospheric sporadic E. Ns layers were first observed in sodium, 20 years ago, and more recently have also been seen in potassium, iron and calcium. As in [...] the case of Es there is a strong link with atmospheric waves, and a number of studies have shown evidence for a possible connection with tidal oscillations in the lower thermosphere. Recent observations at São José dos Campos, Brazil, have shown that sporadic sodium layers are frequently observed to occur at the heights of peaks in sodium concentration corresponding to a propagating atmospheric wave. In cases where the vertical wavelength of the propagating wave is short, as many as three complete oscillations can sometimes be seen, and the sporadic layer always occurs at the highest wave maximum, typically in the range 95-100 km. In the case of long-lived events the Ns layer is observed to accompany the downward phase propagation of the atmospheric wave. On the basis of these observations a case is made for the recombination of sodium ions as the source of the observed sporadic layers.

    • Long-term survival following radiotherapy and cytarabine chemotherapy for sporadic primary central nervous system lymphoma

      Energy Technology Data Exchange (ETDEWEB)

      Poettgen, C.; Stuschke, M.; Stueben, G.; Schmitz, A.; Grehl, S. [Dept. of Radiotherapy, Univ. Hospital Essen (Germany); Schwechheimer, K. [Dept. of Neuropathology, Univ. Hospital Essen (Germany); Wacker, H.H. [Lymph-Node Registry of the German Society of Pathology, Inst. of Hematopathology, Univ. of Kiel (Germany); Rauhut, F. [Dept. of Neurosurgery, Univ. Hospital Essen (Germany); Kleuker, S. [Dept. of Pediatrics, Univ. Hospital Essen (Germany); Wilhelm, H. [Dept. of Neurology, Univ. Hospital Essen (Germany); Fehlings, T. [Dept. of Diagnostic Radiology, Univ. Hospital Essen (Germany)

      2003-09-01

      Purpose: To analyze the long-term results following whole brain radiotherapy (WBRT) with sequential intrathecal (i.th.) cytosine arabinoside (Ara-C) {+-} intravenous (i.v.) Ara-C in patients with primary central nervous system lymphoma (PCNSL). Patients and Methods: 14 patients were treated between July 1987 and August 1995. All had sporadic PCNSL with proven histology of high-grade CNS lymphoma (twelve diffuse large-cell B-lymphomas, one lymphoblastic lymphoma, one large T-cell lymphoma). Patients were treated with two to four cycles of induction chemotherapy (40 mg/m{sup 2} Ara-C i.th.), four patients received additional Ara-C i.v. (150 mg/m{sup 2}, d1-4). WBRT was administered using 1.8-Gy fractions. Intrathecal chemotherapy was planned afterwards in 4-week intervals for 6 months. Posttreatment neurocognitive evaluations were performed in two long-term survivors. Results: Two of four patients who received i.v. and i.th. induction chemotherapy showed progressive disease, and irradiation was started immediately. Six of 14 patients received 50.4 Gy WBRT, four patients had WBRT up to 39.6 Gy followed by a 10.8-Gy boost. Five patients died early during therapy either due to a decline of the general medical condition or progressive disease. Median survival was 41 months (95% confidence interval: 6-79 months), survival at 3 and 5 years was 59% and 42%, respectively. Six patients survived for 3 years, two younger patients are still alive (> 12 years). They show only slightly impaired neurocognitive functions without clinical relevance. Conclusion: This WBRT-based protocol with i.th. meningeal prophylaxis using Ara-C {+-} i.v. Ara-C yields substantial long-term survival with moderate toxicity. The value of i.v. chemotherapy is currently being investigated in prospective studies. (orig.)

    • POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

      Science.gov (United States)

      Di Fonzo, Alessio; Bordoni, Andreina; Crimi, Marco; Sara, Galbiati; Del Bo, Roberto; Bresolin, Nereo; Comi, Giacomo P

      2003-12-01

      The accumulation of multiple mitochondrial DNA (mtDNA) deletions in stable tissues is a distinctive feature of several autosomal disorders, characterized by Progressive External Ophthalmoplegia (PEO), ptosis, and proximal myopathy. At least three nuclear genes are responsible for these disorders: ANT1 and C10orf2 cause autosomal dominant PEO, while mutations of DNA polymerase gammaA (POLG1 or POLG) gene on chromosome 15q25 causes both autosomal dominant and recessive forms of PEO. To investigate the contribution of these genes to the sporadic cases of PEO with multiple mtDNA deletions, we studied 31 mitochondrial myopathy patients without any family history for the disorder: 23 had PEO with myopathy, with or without the additional features of pigmentary retinopathy, ataxia, neurosensorial hypoacusia and diabetes mellitus, 7 presented isolated myopathy and one a peripheral neuropathy with ptosis. In all patients Southern blot of muscle DNA showed multiple mtDNA deletions; screening for ANT1 and C10ORF2 genes was negative. POLG analysis revealed mutations in eight patients; in six of them the mutations were allelic, while two patients were heterozygous. Five mutations were new, namely one stop codon (c.2407C>T/p.R709X) and four missense mutations (c.1085G>C/p.G268A; c.1967G>A/p.R562Q; c.2702G>C/p.R807P; c.3076C>T/p.H932W). A high degree of conservation was observed for all the new missense mutations. Only patients presenting PEO as part of their clinical phenotype had POLG mutations, in seven of them together with myopathic signs and in one with a sensori-motor peripheral neuropathy. PMID:14635118

    • Immunohistochemical, genetic and clinical characterization of sporadic aldosterone-producing adenomas.

      Science.gov (United States)

      Monticone, Silvia; Castellano, Isabella; Versace, Karine; Lucatello, Barbara; Veglio, Franco; Gomez-Sanchez, Celso E; Williams, Tracy A; Mulatero, Paolo

      2015-08-15

      Adrenal glands removed for unilateral primary aldosteronism (PA) display marked histological heterogeneity. Recently reported somatic mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D can partially account for these differences. In this study we aimed at combining phenotypic and genotypic characteristics, integrating genetic and immunohistochemistry correlates in sporadic PA. Seventy-one adrenal glands have been included in the study and analyzed for mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D. Histological examination and immunohistochemical staining for CYP11B1 (11?-hydroxylase) and CYP11B2 (aldosterone synthase) were performed on aldosterone-producing adenomas (APAs) and adjacent adrenal cortex. In our cohort, the final histopathological diagnosis was multinodular hyperplasia in 22.5% of the patients and single nodule in 77.5%. Forty-five percent of the removed adrenals displayed extra-APA CYP11B2-positive cell nests (B2-CN). Among adrenal vein sampling parameters the suppression of contralateral adrenal was more frequent and the lateralization index was higher in the subgroup of patients without extra-APA B2-CN compared to the subgroup with extra-APA B2-CN. KCNJ5-mutated APAs were composed mainly of zona fasciculata-like cells with high expression of CYP11B1, while ATP1A1, ATP2B3 and CACNA1D-mutated APAs presented more frequently a zona-glomerulosa-like phenotype with high expression of CYP11B2. We observed a significant inverse correlation between CYP11B2 expression and the size of the nodules and, if CYP11B2 expression was corrected for tumor volume, a significant correlation with plasma aldosterone and aldosterone to renin ratio. Our findings indicate that combination of genotyping and immunohistochemistry improves the final histopathological diagnosis between single nodule and multinodular hyperplasia of the assessed adrenals. PMID:25958045

    • Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH): study protocol

      International Nuclear Information System (INIS)

      Young women presenting with breast cancer are more likely to have a genetic predisposition to the disease than breast cancer patients in general. A genetic predisposition is known to increase the risk of new primary breast (and other) cancers. It is unclear from the literature whether genetic status should be taken into consideration when planning adjuvant treatment in a young woman presenting with a first primary breast cancer. The primary aim of the POSH study is to establish whether genetic status influences the prognosis of primary breast cancer independently of known prognostic factors. The study is a prospective cohort study recruiting 3,000 women aged 40 years or younger at breast cancer diagnosis; the recruiting period covers 1st June 2001 to 31st December 2007. Written informed consent is obtained at study entry. Family history and known epidemiological risk data are collected by questionnaire. Clinical information about diagnosis, treatment and clinical course is collected and blood is stored. Follow up data are collected annually after the first year. An additional recruitment category includes women aged 41 to 50 years who are found to be BRCA1 or BRCA2 gene carriers and were diagnosed with their first breast cancer during the study recruiting period. Power estimates were based on 10% of the cohort carrying a BRCA1 gene mutation. Preliminary BRCA1 and BRCA2 mutation analysis in a pilot set of study participants confirms we should have 97% power to detect a difference of 10% in event rates between gene carriers and sporadic young onset cases. Most of the recruited patients (>80%) receive an anthracycline containing adjuvant chemotherapy regimen making planned analyses more straightforward

    • Impact of sporadic reporting of poultry Salmonella serovars from selected developing countries.

      Science.gov (United States)

      Barbour, Elie K; Ayyash, Danielle B; Alturkistni, Wafa; Alyahiby, Areej; Yaghmoor, Soonham; Iyer, Archana; Yousef, Jehad; Kumosani, Taha; Harakeh, Steve

      2015-01-01

      This review documents the sporadic reporting of poultry Salmonella serovars in South Africa, Egypt, Indonesia, India, and Romania, five countries selected based on the importance of their distribution in different regions of the world and their cumulative significant population size of 1.6 billion. South Africa reported contamination of its poultry carcasses by S. Hadar, S. Blockley, S. Irumu, and S. Anatum. Results from Egypt showed that S. Enteritidis and S. Typhimurium were predominant in poultry along with other non-typhoid strains, namely S. Infantis, S. Kentucky, S. Tsevie, S. Chiredzi, and S. Heidelberg. In Indonesia, the isolation of Salmonella Typhi was the main focus, while other serovars included S. Kentucky, S. Typhimurium, and S. Paratyhi C. In India, S. Bareilly was predominant compared to S. Enteritidis, S. Typhimurium, S. Paratyphi B, S. Cerro, S. Mbandaka, S. Molade, S. Kottbus, and S. Gallinarum. Romania reported two Salmonella serovars in poultry that affect humans, namely S. Enteritidis and S. Typhimurium, and other non-typhoid strains including S. Infantis, S. Derby, S. Colindale, S. Rissen, S. Ruzizi, S. Virchow, S. Brandenburg, S. Bredeney, S. Muenchen, S. Kortrijk, and S. Calabar. The results showed the spread of different serovars of Salmonella in those five developing countries, which is alarming and emphasizes the urgent need for the World Health Organization Global Foodborne Infections Network (WHO-GFN) to expand its activities to include more strategic participation and partnership with most developing countries in order to protect poultry and humans from the serious health impact of salmonellosis. PMID:25596565

  1. Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH: study protocol

    Directory of Open Access Journals (Sweden)

    Ennis Sarah

    2007-08-01

    Full Text Available Abstract Background Young women presenting with breast cancer are more likely to have a genetic predisposition to the disease than breast cancer patients in general. A genetic predisposition is known to increase the risk of new primary breast (and other cancers. It is unclear from the literature whether genetic status should be taken into consideration when planning adjuvant treatment in a young woman presenting with a first primary breast cancer. The primary aim of the POSH study is to establish whether genetic status influences the prognosis of primary breast cancer independently of known prognostic factors. Methods/design The study is a prospective cohort study recruiting 3,000 women aged 40 years or younger at breast cancer diagnosis; the recruiting period covers 1st June 2001 to 31st December 2007. Written informed consent is obtained at study entry. Family history and known epidemiological risk data are collected by questionnaire. Clinical information about diagnosis, treatment and clinical course is collected and blood is stored. Follow up data are collected annually after the first year. An additional recruitment category includes women aged 41 to 50 years who are found to be BRCA1 or BRCA2 gene carriers and were diagnosed with their first breast cancer during the study recruiting period. Discussion Power estimates were based on 10% of the cohort carrying a BRCA1 gene mutation. Preliminary BRCA1 and BRCA2 mutation analysis in a pilot set of study participants confirms we should have 97% power to detect a difference of 10% in event rates between gene carriers and sporadic young onset cases. Most of the recruited patients (>80% receive an anthracycline containing adjuvant chemotherapy regimen making planned analyses more straightforward.

  2. Methylation of GATA-4 and GATA-5 and development of sporadic gastric carcinomas

    Directory of Open Access Journals (Sweden)

    Xian-Zi Wen, Yoshimitsu Akiyama, Kai-Feng Pan, Zhao-Jun Liu, Zhe-Ming Lu, Jing Zhou, Lian-Kun Gu, Cai-Xuan Dong, Bu-Dong Zhu, Jia-Fu Ji, Wei-Cheng You, Da-Jun Deng

    2010-03-01

    Full Text Available AIM: To understand the implication of GATA-4 and GATA-5 methylation in gastric carcinogenesis.METHODS: Methylation status of GATA-4 and GATA-5 CpG islands in human gastric mucosa samples, including normal gastric biopsies from 45 outpatients, gastric dysplasia [low-grade gastric intraepithelial neoplasia (GIN, n = 30; indefinite, n = 77], and 80 paired sporadic gastric carcinomas (SGC as well as the adjacent non-neoplastic gastric tissues was analyzed by methylation specific polymerase chain reaction (MSP and confirmed by denatured high performance liquid chromatography (DHPLC. Immunohistochemical staining was used to detect protein expression. The correlation between GATA-4 and GATA-5 methylation and clinicopathological characteristics of patients including Helicobacter pylori (H. pylori infection was analyzed.RESULTS: GATA-4 and GATA-5 methylation was frequently observed in SGCs (53.8% and 61.3%, respectively and their corresponding normal tissues (41.3% and 46.3% by MSP. The result of MSP was consistent with that of DHPLC. Loss of both GATA-4 and GATA-5 proteins was associated with their methylation in SGCs (P = 0.01. Moreover, a high frequency of GATA-4 and GATA-5 methylation was found in both gastric low-grade GIN (57.1% and 69.0% and indefinite for dysplasia (42.9% and 46.7%, respectively. However, GATA-4 and GATA-5 methylation was detected only in 4/32 (12.5% and 3/39 (7.7% of normal gastric biopsies. GATA-4 methylation in both normal gastric mucosa and low-grade GIN was also significantly associated with H. pylori infection (P = 0.023 and 0.027, two-sides.CONCLUSION: Epigenetic inactivation of GATA-4 (and GATA-5 by methylation of CpG islands is an early frequent event during gastric carcinogenesis and is significantly correlated with H. pylori infection.

  3. Epstein-Barr virus (EBV)-positive sporadic burkitt lymphoma: an age-related lymphoproliferative disorder?

    Science.gov (United States)

    Satou, Akira; Asano, Naoko; Nakazawa, Atsuko; Osumi, Tomoo; Tsurusawa, Masahito; Ishiguro, Atsushi; Elsayed, Ahmed Ali; Nakamura, Naoya; Ohshima, Koichi; Kinoshita, Tomohiro; Nakamura, Shigeo

    2015-02-01

    Epstein-Barr virus (EBV) is detected in 20% to 30% of sporadic Burkitt lymphoma (sBL). However, only a few studies of EBV-positive (EBV) sBL have been reported, and its characteristics still remain controversial. To highlight the features of EBV sBL, we compared the clinicopathologic characteristics of 33 cases of EBV and 117 cases of EBV-negative (EBV) sBL in Japan. EBV sBL showed significantly higher age distribution (median, 42 vs. 13 y; P<0.0001) and higher frequency of patients older than 50 years (48% vs. 16%, P<0.0001). We also revealed the difference of the involved sites. The EBV group showed significantly higher incidence of involvement of tonsil (P=0.027), adrenal gland (P=0.011), and cervical lymph node (P=0.040). In addition, the EBV group tended to have higher incidence of nodal involvement (P=0.078) and involvement of para-aorta lymph node (P=0.084) and heart (P=0.050). In contrast, the gastrointestinal tract was less frequently affected in EBV sBL (P=0.024). In addition, the less positivity for MUM1 (P=0.020) of EBV sBL was highlighted. These results indicate that biological behavior and pathogenesis of EBV sBL might be different from those of EBV sBL. Our results demonstrate that EBV sBL has an aspect of age-related disease and is a distinct clinicopathologic subtype, which should be distinguished from EBV sBL. PMID:25321330

  4. ICOS gene polymorphisms are associated with sporadic breast cancer: a case-control study

    International Nuclear Information System (INIS)

    Inducible costimulator (ICOS), a costimulatory molecular of the CD28 family, provides positive signal to enhance T cell proliferation. Its abnormal expression can disturb the immune response and entail an increased risk of cancer. To investigate whether single nucleotide polymorphisms (SNPs) in the ICOS gene are associated with sporadic breast cancer susceptibility and progression in Chinese women, a case-control study was conducted. In the study cohort, we genotyped five SNPs (rs11889031, rs10932029, rs4675374, rs10183087 and rs10932037) in ICOS gene among 609 breast cancer patients and 665 age-matched healthy controls. Furthermore, the positive results were replicated in an independent validation cohort of 619 patients and 682 age-matched healthy controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine the genotypes. In rs10932029, compared with TT genotype and T allele, the CT genotype and C allele showed a significantly increased risk of breast cancer (P = 0.030, OR = 1.467, 95% CI 1.037-2.077; P = 0.017, OR = 1.481, 95% CI 1.070-2.049, respectively), and the associations were also significant in the validation cohort (P = 0.002, OR = 1.693, 95% CI 1.211-2.357; P = 0.003, OR = 1.607, 95% CI 1.171-2.204, respectively). Haplotype analysis showed that CTCAC haplotype containing rs10932029 T allele had a lower frequency in cases than in controls (P = 0.015), whereas haplotype CCCAC containing rs10932029 C allele was more common in cases than in controls (P = 0.013). In the analysis of clinicopathologic features, rs11889031 CT genotype and T allele were associated with progesterone receptor (PR) status and lymph node metastasis, which were further supported by our validation cohort. Moreover, some haplotypes were associated with estrogen receptor (ER) and PR statuses. These results indicate that ICOS gene polymorphisms may affect the risk of breast cancer and show that some SNPs are associated with breast cancer characteristics in a northern Chinese population

  5. Bleomycin sensitivity in patients with familial and sporadic polyposis: a pilot study

    Directory of Open Access Journals (Sweden)

    Magaly M. Sales

    1999-03-01

    Full Text Available Human peripheral blood lymphocytes from 10 patients with familial adenomatous polyposis (FAP showed a significantly higher incidence of chromatid breaks when compared to cells from 10 normal individuals, after exposure to bleomycin (BLM during the G2 phase. However, no significant increase in bleomycin sensitivity was observed in lymphocytes from 10 patients with sporadic adenomatous polyps (AP vs. 10 normal individuals (P = 0.67. Individuals that exhibited an average number of chromatid breaks per cell higher than 0.80 were considered sensitive to the drug. No control showed susceptibility to BLM, as compared to 3 out of 20 patients.Inúmeros estudos têm mostrado que fibroblastos de pacientes com adenomatose hereditária de cólon e reto, que inclui polipose adenomatosa familial (FAP e a síndrome de Gardner, apresentam uma freqüência aumentada de aberrações cromossômicas após exposição a agentes físicos ou químicos, quando comparados aos controles normais. Para determinar a sensibilidade de linfócitos de pacientes com FAP e também com pólipos adenomatosos esporádicos (AP usou-se o radiomimético bleomicina (BLM. Foram estudados citogeneticamente 10 indivíduos com AP, 10 com FAP e 20 controles normais, pareados por sexo e idade. Indivíduos que apresentaram valores médios de quebras cromatídicas por célula superiores a 0,80 foram considerados sensíveis à droga. Observou-se uma diferença significativa entre pacientes com FAP e controles quanto às freqüências de quebras cromatídicas nos linfócitos tratados na fase G2. Entretanto, nenhuma diferença significativa foi observada entre pacientes com AP e controles quanto às freqüências de quebras cromatídicas nos linfócitos tratados. Nenhum indivíduo do grupo controle foi sensível à BLM e, entre os 20 pacientes, três mostraram suscetibilidade à droga. Não foi encontrada diferença significativa quanto a resposta à bleomicina entre indivíduos do sexo masculino e feminino. Entretanto, a distribuição de quebras induzidas por bleomicina em cada grupo cromossômico não foi similar nos pacientes do sexo feminino e controles normais. É possível que a sensibilidade cromossômica à BLM encontrada nos pacientes com FAP esteja relacionada a deficiência de reparo de DNA.

  6. Bleomycin sensitivity in patients with familial and sporadic polyposis: a pilot study

    Scientific Electronic Library Online (English)

    Magaly M., Sales; Edmundo J. de, Lucca; Seizo, Yamashita; Luis Henrique Cury, Saad.

    1999-03-01

    Full Text Available Inúmeros estudos têm mostrado que fibroblastos de pacientes com adenomatose hereditária de cólon e reto, que inclui polipose adenomatosa familial (FAP) e a síndrome de Gardner, apresentam uma freqüência aumentada de aberrações cromossômicas após exposição a agentes físicos ou químicos, quando compar [...] ados aos controles normais. Para determinar a sensibilidade de linfócitos de pacientes com FAP e também com pólipos adenomatosos esporádicos (AP) usou-se o radiomimético bleomicina (BLM). Foram estudados citogeneticamente 10 indivíduos com AP, 10 com FAP e 20 controles normais, pareados por sexo e idade. Indivíduos que apresentaram valores médios de quebras cromatídicas por célula superiores a 0,80 foram considerados sensíveis à droga. Observou-se uma diferença significativa entre pacientes com FAP e controles quanto às freqüências de quebras cromatídicas nos linfócitos tratados na fase G2. Entretanto, nenhuma diferença significativa foi observada entre pacientes com AP e controles quanto às freqüências de quebras cromatídicas nos linfócitos tratados. Nenhum indivíduo do grupo controle foi sensível à BLM e, entre os 20 pacientes, três mostraram suscetibilidade à droga. Não foi encontrada diferença significativa quanto a resposta à bleomicina entre indivíduos do sexo masculino e feminino. Entretanto, a distribuição de quebras induzidas por bleomicina em cada grupo cromossômico não foi similar nos pacientes do sexo feminino e controles normais. É possível que a sensibilidade cromossômica à BLM encontrada nos pacientes com FAP esteja relacionada a deficiência de reparo de DNA. Abstract in english Human peripheral blood lymphocytes from 10 patients with familial adenomatous polyposis (FAP) showed a significantly higher incidence of chromatid breaks when compared to cells from 10 normal individuals, after exposure to bleomycin (BLM) during the G2 phase. However, no significant increase in bleo [...] mycin sensitivity was observed in lymphocytes from 10 patients with sporadic adenomatous polyps (AP) vs. 10 normal individuals (P = 0.67). Individuals that exhibited an average number of chromatid breaks per cell higher than 0.80 were considered sensitive to the drug. No control showed susceptibility to BLM, as compared to 3 out of 20 patients.

  7. Genetic and epigenetic silencing of the beclin 1 gene in sporadic breast tumors

    Directory of Open Access Journals (Sweden)

    Wu Yiqing

    2010-03-01

    Full Text Available Abstract Background Beclin 1, an important autophagy-related protein in human cells, is involved in cell death and cell survival. Beclin 1 mapped to human chromosome 17q21. It is widely expressed in normal mammary epithelial cells. Although down-regulated expression with mono-allelic deletions of beclin 1 gene was frequently observed in breast tumors, whether there was other regulatory mechanism of beclin 1 was to be investigated. We studied the expression of beclin 1 and explored the possible regulatory mechanisms on its expression in breast tumors. Methods 20 pairs of tumors and adjacent normal tissues from patients with sporadic breast invasive ductal cancer (IDCs were collected. The mRNA expression of beclin 1 was detected by real-time quantitative RT-PCR. Loss of heterozygosity (LOH was determined by real-time quantitative PCR and microsatellite methods. The protein expression of beclin 1, p53, BRCA1 and BRCA2 was assessed by immunohistochemistry. CpG islands in 5' genomic region of beclin 1 gene were identified using MethylPrimer Program. Sodium bisulfite sequencing was used in examining the methylation status of each CpG island. Results Decreased beclin 1 mRNA expression was detected in 70% of the breast tumors, and the protein levels were co-related to the mRNA levels. Expression of beclin 1 mRNA was demonstrated to be much higher in the BRCA1 positive tumors than that in the BRCA1 negative ones. Loss of heterozygosity was detected in more than 45% of the breast tumors, and a dense cluster of CpG islands was found from the 5' end to the intron 2 of the beclin 1 gene. Methylation analysis showed that the promoter and the intron 2 of beclin 1 were aberrantly methylated in the tumors with decreased expression. Conclusions These data indicated that LOH and aberrant DNA methylation might be the possible reasons of the decreased expression of beclin 1 in the breast tumors. The findings here shed some new light on the regulatory mechanisms of beclin 1 in breast cancer.

  8. Polymorphisms of the SIPA1 gene and sporadic breast cancer susceptibility

    International Nuclear Information System (INIS)

    The novel breast cancer metastasis modulator gene signal-induced proliferation-associated 1 (Sipa1) underlies the breast cancer metastasis efficiency modifier locus Mtes 1 and has been shown to influence mammary tumour metastatic efficiency in the mouse, with an ectopically expressing Sipa1 cell line developing 1.5 to 2 fold more surface pulmonary metastases. Sipa1 encodes a mitogen-inducible GTPase activating (GAP) protein for members of the Ras-related proteins; participates in cell adhesion and modulates mitogen-induced cell cycle progression. Germline SIPA1 SNPs showed association with positive lymph node metastasis and hormonal receptor status in a Caucasian cohort. We hypothesized that SIPA1 may also be correlated to breast carcinoma incidence as well as prognosis. Therefore, this study investigated the potential relationship of SIPA1 and human breast cancer incidence by a germline SNP genotype frequency association study in a case-control Caucasian cohort in Queensland, Australia. The SNPs genotyped in this study were identified in a previous study and the genotyping assays were carried out using TaqMan SNP Genotyping Assays. The data were analysed with chi-square method and the Monte Carlo style CLUMP analysis program. Results indicated significance with SIPA1 SNP rs3741378; the CC genotype was more frequently observed in the breast cancer group compared to the disease-free control group, indicating the variant C allele was associated with increased breast cancer incidence. This observation indicates SNP rs3741378 as a novel potential sporadic breast cancer predisposition SNP. While it showed association with hormonal receptor status in breast cancer group in a previous pilot study, this exonic missense SNP (Ser (S) to Phe (F)) changes a hydrophilic residue (S) to a hydrophobic residue (F) and may significantly alter the protein functions of SIPA1 in breast tumourgenesis. SIPA1 SNPs rs931127 (5' near gene), and rs746429 (synonymous (Ala (A) to Ala (A)), did not show significant associations with breast cancer incidence, yet were associated with lymph node metastasis in the previous study. This suggests that SIPA1 may be involved in different stages of breast carcinogenesis and since this study replicates a previous study of the associated SNP, it implicates variants of the SIPA1 gene as playing a potential role in breast cancer

  9. Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population.

    Science.gov (United States)

    Cao, Yu; Wang, Junqiang; Wei, Chuanyu; Hou, Zongliu; Li, Yaxiong; Zou, Honglin; Meng, Mingyao; Wang, Wenju; Jiang, Lihong

    2016-01-01

    Congenital heart disease (CHD) is the most common birth abnormality, and more than 40% CHD subtypes are sporadic atrial septal defect (ASD) and ventricular septal defect (VSD). The etiology of ASD and VSD remains largely unknown. NKX2-5 gene is a highly conserved homeobox protein gene and expressed in the developing heart. Its mutations can cause sporadic ASD and VSD. This study aimed to investigate the genetic variations of NKX2-5 in ASD and VSD in Chinese Yunnan population. The whole 2 coding exon and partial flanking intron sequences of NKX2-5 gene were screened using DNA sequencing in 107 ASD patients and 391 VSD patients as well as 487 healthy individuals (control) who had parental origin (three generations) from the Yunnan province in China. Results found that, 4 reported single nucleotide polymorphisms (SNPs) (rs2277923, rs3729753, rs703752 and rs202071628) were detected. A novel heterozygous DNA sequence variant (DSV) (1500G>C) in the 3'UTR region of NKX2-5 gene were identified in 2 VSD patients, but none in ASD and controls. One single nucleotide polymorphism (rs2277923), the frequency of which was significantly higher in ASD group, and the allele and genotype were associated with the occurrence of ASD. Besides, a weak statistical association existed between rs703752 and VSD (uncorrected P=0.028). The novel DSV (1500G>C) of NKX2-5 gene may contribute to a small number of VSD, and rs2277923 SNP may contribute to the risk of sporadic ASD in Chinese Yunnan population. PMID:26297999

  10. Association between mutation of the NF2 gene and monosomy 22 in menopausal women with sporadic meningiomas

    Science.gov (United States)

    2013-01-01

    Background Meningioma was the first solid tumor shown to contain a recurrent genetic alteration e.g. monosomy 22/del(22q), NF2 being the most relevant gene involved. Although monosomy 22/del(22q) is present in half of all meningiomas, and meningiomas frequently carry NF2 mutations, no study has been reported so far in which both alterations are simultaneously assessed and correlated with the features of the disease. Methods Here, we analyzed the frequency of both copy number changes involving chromosome 22 and NF2 mutations in 20 sporadic meningiomas using high-density SNP-arrays, interphase-FISH and PCR techniques. Results Our results show a significant frequency of NF2 mutations (6/20 patients, 30%), most of which (5/6) had not been previously reported in sporadic meningiomas. NF2 mutations involved five different exons and led to a truncated protein (p.Leu163CysfsX46, p.Phe62LeufsX61, p.Asp281MetfsX15, p.Phe285LeufsX11, p.Gln389ArgfsX37) and an in frame deletion of Phe119. Interestingly, all NF2 mutated cases were menopausal women with monosomy 22 but not del(22q). Conclusions These results confirm and extend on previous observations about the high frequency and heterogeneity of NF2 mutations in sporadic meningiomas and indicate they could be restricted to a well-defined cytogenetic and clinical subgroup of menopausal women. Further studies in large series of patients are required to confirm our observations. PMID:24171707

  11. Description of a simple test for CADASIL disease and determination of mutation frequencies in sporadic ischaemic stroke and dementia patients

    Science.gov (United States)

    Wang, T.; Sharma, S.; Fox, N.; Rossor, M.; Brown, M.; Sharma, P.

    2000-01-01

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare inherited adult onset disease characterised most commonly by cerebral ischaemic events and dementia. It is caused by mutations in the Notch3 gene with most clustering in exons 3 and 4. Whether these mutations have any influence on common sporadic ischaemic stroke or dementia cases has not been investigated, partly hampered by the lack of a readily usable genetic test.?An easy to use diagnostic array for CADASIL was designed using various restriction endonucleases for the known mutations in exons 3 and 4 and novel mismatch primers were designed where no such enzymes existed. This array was used to identify the allele frequencies of CADASIL mutations and polymorphisms in selected disease cohorts. Seventy patients with radiologically established sporadic ischaemic stroke and 77 patients from a specialist young dementia clinic were recruited. One hundred and seventeen age and sex matched asymptomatic controls were also identified.?The diagnostic array was found to work well. None of the 14 known mutations and three previously identified polymorphisms (C474A, A587G, and C594A) in exons 3 and 4 were present in 140stroke, 110 dementia, or 234 control chromosomes. Molecular variant C381T occurred with a higher frequency of 0.13, whereas G684A occurred with a lower frequency (0.09) than previously reported, although there were no statistical differences between selected cohorts.?In conclusion, a readily usable genetic test for CADASIL has been devised that was used to determine allele frequencies in well characterised cohorts of sporadic stroke and dementia patients. The data suggest that despite the clinical resemblance, CADASIL is not a common masquerading cause of stroke or dementia. The test will enable units locally to rapidly screen patients with suspected CADASIL.?? PMID:11032621

  12. Source attribution of human campylobacteriosis using a meta-analysis of case-control studies of sporadic infections

    DEFF Research Database (Denmark)

    Coutinho Calado Domingues, Ana Rita; Pires, Sara Monteiro

    2012-01-01

    Campylobacter spp. is a widespread and important cause of human illness worldwide. Disease is frequently associated with foodborne transmission, but other routes of exposure, such as direct contact with live animals and person-to-person transmission, are also recognized. Identifying the most important sources of human disease is essential for prioritizing food safety interventions and setting public health goals. Numerous case-control studies of sporadic infections of campylobacteriosis have been published. These studies investigated a variety of potential risk factors for disease, often using different methodologies and settings. Systematic reviews (SRs) consist of a formal process for literature review focused on a specific research question, and include the identification of relevant literature, quality assessment of relevant studies, summarization or statistical analysis of data, and conclusions. With the objective of identifying the most important risk factors for human sporadic campylobacteriosis, we performed a SR of case-control studies of human sporadic cases and a meta-analysis of the obtained results. A combined SR focusing on Salmonella and Campylobacter studies was performed and the results analysed separately. From 1295 identified references, 131 passed the relevance screening, 73 passed the quality assessment stage, and data was extracted from 72 studies. Of these, 38 focused on campylobacteriosis. Information on exposures of cases and controls, and estimated odds ratios for investigated risk factors were collected and analysed. In the meta-analysis, heterogeneity between the studies and possible sources of bias were investigated, and pooled odds ratios for identified risk factors were estimated. Results suggest that travelling abroad, eating undercooked chicken, environmental sources, and direct contact with farm animals were significant risk factors for campylobacteriosis. Sub-analyses by geographical region, age group, and study period were performed, and differences were discussed.

  13. Gene expression profiling for human iPS-derived motor neurons from sporadic ALS patients reveals a strong association between mitochondrial functions and neurodegeneration

    Directory of Open Access Journals (Sweden)

    Rafael Dariolli

    2015-08-01

    Full Text Available Amyotrophic Lateral Sclerosis (ALS is a fatal neurodegenerative disease that leads to widespread motor neuron death, general palsy and respiratory failure. The most prevalent sporadic ALS form is not genetically inherited. Attempts to translate therapeutic strategies have failed because the described mechanisms of disease are based on animal models carrying specific gene mutations and thus do not address sporadic ALS. In order to achieve a better approach to study the human disease, human induced pluripotent stem cell (hiPSC-differentiated motor neurons were obtained from motor nerve fibroblasts of sporadic ALS and non-ALS subjects using the STEMCCA Cre-Excisable Constitutive Polycistronic Lentivirus system and submitted to microarray analyses using a whole human genome platform. DAVID analyses of differentially expressed genes identified molecular function and biological process-related genes through Gene Ontology. REVIGO highlighted the related functions mRNA and DNA binding, GTP binding, transcription (co-repressor activity, lipoprotein receptor binding, synapse organization, intracellular transport, mitotic cell cycle and cell death. KEGG showed pathways associated with Parkinson’s disease and oxidative phosphorylation, highlighting iron homeostasis, neurotrophic functions, endosomal trafficking and ERK signaling. The analysis of most dysregulated genes and those representative of the majority of categorized genes indicates a strong association between mitochondrial function and cellular processes possibly related to motor neuron degeneration. In conclusion, iPSC-derived motor neurons from motor nerve fibroblasts of sporadic ALS patients may recapitulate key mechanisms of neurodegeneration and may offer an opportunity for translational investigation of sporadic ALS. Large gene profiling of differentiated motor neurons from sporadic ALS patients highlights mitochondrial participation in the establishment of autonomous mechanisms associated with sporadic ALS.

  14. Dynactin Deficiency in the CNS of Humans with Sporadic ALS and Mice with Genetically Determined Motor Neuron Degeneration

    OpenAIRE

    Ku?ma-Kozakiewicz, Magdalena; Chudy, Agnieszka; Ka?mierczak, Beata; Dziewulska, Dorota; Usarek, Ewa; Bara?czyk-Ku?ma, Anna

    2013-01-01

    Dynactin is a complex motor protein involved in the retrograde axonal transport disturbances of which may lead to amyotrophic lateral sclerosis (ALS). Mice with hSOD1G93A mutation develop ALS-like symptoms and are used as a model for the disease studies. Similar symptoms demonstrate Cra1 mice, with Dync1h1 mutation. Dynactin heavy (DCTN1) and light (DCTN3) subunits were studied in the CNS of humans with sporadic ALS (SALS), mice with hSOD1G93A (SOD1/+), Dync1h1 (Cra1/+), and double (Cra1/SOD1...

  15. Nuclear DNA content of isolated crypts of background colonic mucosa from patients with familial adenomatous polyposis and sporadic colorectal cancer.

    OpenAIRE

    S. Nakamura; Kino, I; Baba, S

    1993-01-01

    The DNA content of the upper one third of the crypt epithelium was compared with that of the lower two thirds in the background colorectal mucosa of eight cases of familial adenomatous polyposis (FAP) and eight control cases of sporadic colorectal cancer (SCRC). Intact crypts were isolated by incubating fresh lesion free colorectal mucosa in calcium and magnesium free Hanks' balanced salt solution (CMFH) containing 30 mM EDTA for 30 minutes at 37 degrees C and then agitating in CMFH. The cryp...

  16. Aggregation-triggering segments of SOD1 fibril formation support a common pathway for familial and sporadic ALS

    OpenAIRE

    Ivanova, Magdalena I.; Sievers, Stuart A; Guenther, Elizabeth L.; Johnson, Lisa M.; Winkler, Duane D.; Galaleldeen, Ahmad; Sawaya, Michael R.; Hart, P. John; Eisenberg, David S

    2013-01-01

    Pathological deposition of mutated Cu/Zn superoxide dismutase (SOD1) accounts for ?20% of the familial ALS (fALS) cases. Insoluble protein aggregates, immunoreactive for SOD1, have been found in both fALS and sporadic ALS (sALS) patients. To study the molecular origin of SOD1 aggregation, we used a computational approach to discover four segments from SOD1 that form fibril-like aggregates. We found that two of these, 101DSVISLS107 and 147GVIGIAQ153, are likely to trigger the aggregation of fu...

  17. Haplotype of gene Nedd4 binding protein 2 associated with sporadic nasopharyngeal carcinoma in the Southern Chinese population

    Directory of Open Access Journals (Sweden)

    Feng Qi-Sheng

    2007-07-01

    Full Text Available Abstract Background Bcl-3 as an oncoprotein is overexpressed in nasopharyngeal carcinoma (NPC. Nedd4 binding protein 2 (N4BP2, which is located in the NPC susceptibility locus, is a Bcl-3 binding protein. This study is aimed to explore the association between N4BP2 genetic polymorphism and the risk of NPC. Methods We performed a hospital-based case-control study, including 531 sporadic NPC and 480 cancer-free control subjects from southern China. PCR-sequencing was carried out on Exons, promoter region and nearby introns of the N4BP2 gene. The expression pattern of N4BP2 and Bcl-3 was also analyzed. Results We observed a statistically significant difference in haplotype blocks ATTA and GTTG between cases and controls. In addition, three novel SNPs were identified, two of which were in exons (loc123-e3l-snp2, position 39868005, A/G, Met171Val; RS17511668-SNP2, position 39926432, G/A, Glu118Lys, and one was in the intron6 (RS794001-SNP1, position 39944127, T/G. Moreover, N4BP2 was at higher levels in a majority of tumor tissues examined, relative to paired normal tissues. Conclusion These data suggest that haplotype blocks ATTA and GTTG of N4BP2 is correlation with the risk of sporadic nasopharyngeal carcinoma in the Southern Chinese population and N4BP2 has a potential role in the development of NPC.

  18. Common volume coherent and incoherent scatter radar observations of mid-latitude sporadic E-layers and QP echoes

    Directory of Open Access Journals (Sweden)

    D. L. Hysell

    2004-09-01

    Full Text Available Common-volume observations of sporadic E-layers made on 14-15 June 2002 with the Arecibo incoherent scatter radar and a 30MHz coherent scatter radar imager located on St. Croix are described. Operating in dual-beam mode, the Arecibo radar detected a slowly descending sporadic E-layer accompanied by a series of dense E-region plasma clouds at a time when the coherent scatter radar was detecting quasi-periodic (QP echoes. Using coherent radar imaging, we collocate the sources of the coherent scatter with the plasma clouds observed by Arecibo. In addition to patchy, polarized scattering regions drifting through the radar illuminated volume, which have been observed in previous imaging experiments, the 30MHz radar also detected large-scale electrostatic waves in the E-region over Puerto Rico, with a wavelength of about 30km and a period of about 10min, propagating to the southwest. Both the intensity and the Doppler shifts of the coherent echoes were modulated by the wave.

  19. Four-year longitudinal study of clinical and functional endpoints in sporadic inclusion body myositis: implications for therapeutic trials.

    Science.gov (United States)

    Hogrel, Jean-Yves; Allenbach, Yves; Canal, Aurélie; Leroux, Gaëlle; Ollivier, Gwenn; Mariampillai, Kuberaka; Servais, Laurent; Herson, Serge; Decostre, Valérie; Benveniste, Olivier

    2014-07-01

    Natural history studies in sporadic inclusion body myositis are of fundamental interest for future therapeutic trials. Previous works have demonstrated the particular relevance of knee extension strength in the follow-up of this disease. This work aimed to extend a preceding natural history over 9 months to a four year period. Thirteen patients were assessed using clinical and functional scales and dynamometry. Except wrist extension torque and manual muscle testing composite score, all the measurements presented a significant decline. The most important changes were observed for knee extension and ankle flexion and extension. The relative change in knee extension strength correlated with the level of strength at baseline. A non-linear correlation was found between 6-minute walk distance and knee extension strength. This study confirms that knee extension strength is particularly relevant to follow patients with sporadic inclusion body myositis. It also shows that a strength loss does not have linear consequences on motor ability. Finally strength and motor ability are complementing each other in the understanding of disease progression. PMID:24857365

  20. Frequency and spectrum of c-Ki-ras mutations in human sporadic colon carcinoma, carcinomas arising in ulcerative colitis, and pancreatic adenocarcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Burmer, G.C.; Rabinovitch, P.S.; Loeb, L.A. (Univ. of Washington School of Medicine, Seattle (United States))

    1991-06-01

    Sporadic colon carcinomas, carcinomas arising in chronic ulcerative colitis, and pancreatic adenocarcinomas have been analyzed for the presence of c-Ki-ras mutations by a combination of histological enrichment, cell sorting, polymerase chain reaction, and direct sequencing. Although 60% (37/61) of sporadic colon carcinomas contained mutations in codon 12, only 1 of 17 specimens of dysplasia or carcinoma from ulcerative colitis patients contained c-Ki-ras mutations, despite a high frequency of aneuploid tumors. In contrast, a higher percentage (16/20 = 80%) of pancreatic adenocarcinomas contained mutations in c-Ki-ras 2, despite a lower frequency of DNA aneuploidy in these neoplasms. Moreover, the spectrum of mutations differed between sporadic colon carcinoma, where the predominant mutation was a G to A transition, and pancreatic carcinomas, which predominantly contained G to C or T transversions. These results suggest that the etiology of ras mutations is different in these three human neoplasms.

  1. Mutations and Allelic Deletions of the MEN1 Gene Are Associated with a Subset of Sporadic Endocrine Pancreatic and Neuroendocrine Tumors and Not Restricted to Foregut Neoplasms

    OpenAIRE

    Görtz, Birgit; Roth, Jürgen; Krähenmann, Akiko; Krijger, Ronald R.; Muletta-Feurer, Seraina; Rütimann, Katrin; Saremaslani, Parvin; Speel, Ernst J.M.; Heitz, Philipp U; Komminoth, Paul

    1999-01-01

    Endocrine pancreatic tumors (EPT) and neuroendocrine tumors (NET) occur sporadically and rarely in association with multiple endocrine neoplasia type 1 (MEN1). We analyzed the frequency of allelic deletions and mutations of the recently identified MEN1 gene in 53 sporadic tumors including 30 EPT and 23 NET (carcinoids) of different locations and types. Allelic deletion of the MEN1 locus was identified in 18/49 (36.7%) tumors (13/30, 43.3% in EPT and 5/19, 26.3% in NET) and mutations of the ME...

  2. Neuropsychological and quantitative oculometric study of a case of sporadic Creutzfeldt-Jakob disease at predementia stage.

    Science.gov (United States)

    Zarei, M; Nouraei, S A R; Caine, D; Hodges, J R; Carpenter, R H S

    2002-07-01

    A quantitative assessment of eye movements and a detailed neuropsychological profile were conducted at predementia stage in a patient who later had histological confirmation of sporadic Creutzfeldt-Jakob disease (CJD). The patient was a middle aged man who presented with abnormal eye movements and poor balance. Neuropsychological deficits suggested orbito-mesial dysfunction, resembling progressive supranuclear palsy. Oculometry showed accurate but dramatically slowed saccades, with normal pursuit movements. Neuropsychology and quantitative oculometry may be of value in the differential diagnosis and earlier detection of dementia-akinetic-rigid syndromes; in particular, because of the highly stereotyped nature of saccades, routine quantitative oculometry can reveal significant impairment at a very early stage in some cases and could thus facilitate earlier diagnosis. PMID:12082046

  3. The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer

    DEFF Research Database (Denmark)

    Liu, Ying; Dodds, Phillippa

    2002-01-01

    In sporadic ovarian cancer, we have previously reported allele loss at D6S193 (62%) on chromosome 6q27, which suggested the presence of a putative tumour suppressor gene. Based on our data and that from another group, the minimal region of allele loss was between D6S264 and D6S149 (7.4 cM). To identify the putative tumour suppressor gene, we established a physical map initially with YACs and subsequently with PACs/BACs from D6S264 to D6S149. To accelerate the identification of genes, we sequenced the entire contig of approximately 1.1 Mb. Seven genes were identified within the region of allele loss between D6S264 and D6S149.

  4. Refined mapping of loss of heterozygosity on 1q31.1-32.1 in sporadic colorectal carcinoma

    Directory of Open Access Journals (Sweden)

    Chong-Zhi Zhou, Guo-Qiang Qiu, Jun-Wei Fan, Xiao-Liang Wang, Hua-Mei Tang, Li Huang, Yu-Hao Sun, Zhi-Hai Peng

    2008-03-01

    Full Text Available AIM: To explore precise deleted regions and screen the candidate tumor suppressor genes related to sporadic colorectal carcinoma.METHODS: Six markers on 1q31.1-32.1 were chosen. These polymorphic microsatellite markers in 83 colorectal cancer patients tumor and normal DNA were analyzed via PCR. PCR products were electrophoresed on an ABI 377 DNA sequencer. Genescan 3.1 and Genotype 2.1 software were used for Loss of heterozygosity (LOH scanning and analysis. Comparison between LOH frequency and clinicopathological factors was performed by ?2 test.RESULTS: 1q31.1-32.1 exhibited higher LOH frequency in colorectal carcinoma. The average LOH frequency of 1q31.1-32.1 was 23.0%, with the highest frequency of 36.7% (18/49 at D1S2622, and the lowest of 16.4% (11/67 at D1S412, respectively. A minimal region of frequent deletion was located within a 2 cM genomic segment at D1S413-D1S2622 (1q31.3-32.1. There was no significant association between LOH of each marker on 1q31.1-32.1 and the clinicopathological data (patient sex, age, tumor size, growth pattern or Dukes stage, which indicated that on 1q31.1-32.1, LOH was a common phenomenon in all kinds of sporadic colorectal carcinoma.CONCLUSION: Through our refined deletion mapping, the critical and precise deleted region was located within 2 cM chromosomal segment encompassing 2 loci (D1S413, D1S2622. No significant association was found between LOH and clinicopathologic features in 1q31.1-32.1.

  5. Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from the Netherlands cohort study

    Directory of Open Access Journals (Sweden)

    Schalken Jack A

    2005-06-01

    Full Text Available Abstract Background Biallelic von Hippel-Lindau (VHL gene defects, a rate-limiting event in the carcinogenesis, occur in approximately 75% of sporadic clear-cell Renal Cell Carcinoma (RCC. We studied the VHL mutation status in a large population-based case group. Methods Cases were identified within the Netherlands cohort study on diet and cancer, which includes 120,852 men and women. After 11.3 years of follow-up, 337 incident cases with histologically confirmed epithelial cancers were identified. DNA was isolated from paraffin material collected from 51 pathology laboratories and revised by one pathologist, leaving material from 235 cases. VHL mutational status was assessed by SSCP followed by direct sequencing, after testing SSCP as a screening tool in a subsample. Results The number of mutations was significantly higher for clear-cell RCC compared to other histological types. We observed 131 mutations in 114 out of 187 patients (61% with clear-cell RCC. The majority of mutations were truncating mutations (47%. The mean tumor size was 72.7 mm for mutated tumors compared to 65.3 mm for wildtype tumors (p = 0.06. No statistically significant differences were observed for nuclear grade, TNM distribution or stage. In other histological types, we observed 8 mutations in 7 out of 48 patients (15%, 1 mutation in 1 of 6 oncocytoma, 3 mutations in 2 of 7 chromophobe RCC, 2 mutations in 2 of 30 papillary RCC, no mutations in 1 collecting duct carcinoma and 2 mutations in 2 of 4 unclassified RCC. Conclusion VHL mutations were detected in 61% of sporadic clear-cell RCC. VHL mutated and wildtype clear-cell RCC did not differ with respect to most parameters.

  6. Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.

    Science.gov (United States)

    Yehia, Lamis; Niazi, Farshad; Ni, Ying; Ngeow, Joanne; Sankunny, Madhav; Liu, Zhigang; Wei, Wei; Mester, Jessica L; Keri, Ruth A; Zhang, Bin; Eng, Charis

    2015-11-01

    Cancer-predisposing genes associated with inherited cancer syndromes help explain mechanisms of sporadic carcinogenesis and often inform normal development. Cowden syndrome (CS) is an autosomal-dominant disorder characterized by high lifetime risks of epithelial cancers, such that ?50% of affected individuals are wild-type for known cancer-predisposing genes. Using whole-exome and Sanger sequencing of a multi-generation CS family affected by thyroid and other cancers, we identified a pathogenic missense heterozygous SEC23B variant (c.1781T>G [p.Val594Gly]) that segregates with the phenotype. We also found germline heterozygous SEC23B variants in 3/96 (3%) unrelated mutation-negative CS probands with thyroid cancer and in The Cancer Genome Atlas (TCGA), representing apparently sporadic cancers. We note that the TCGA thyroid cancer dataset is enriched with unique germline deleterious SEC23B variants associated with a significantly younger age of onset. SEC23B encodes Sec23 homolog B (S. cerevisiae), a component of coat protein complex II (COPII), which transports proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. Interestingly, germline homozygous or compound-heterozygous SEC23B mutations cause an unrelated disorder, congenital dyserythropoietic anemia type II, and SEC23B-deficient mice suffer from secretory organ degeneration due to ER-stress-associated apoptosis. By characterizing the p.Val594Gly variant in a normal thyroid cell line, we show that it is a functional alteration that results in ER-stress-mediated cell-colony formation and survival, growth, and invasion, which reflect aspects of a cancer phenotype. Our findings suggest a different role for SEC23B, whereby germline heterozygous variants associate with cancer predisposition potentially mediated by ER stress "addiction." PMID:26522472

  7. Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt–Jakob disease: a case report

    Directory of Open Access Journals (Sweden)

    Rodríguez-Martínez Ana B

    2012-10-01

    Full Text Available Abstract Introduction The coexistence of different molecular types of classical protease-resistant prion protein in the same individual have been described, however, the simultaneous finding of these with the recently described protease-sensitive variant or variably protease-sensitive prionopathy has, to the best of our knowledge, not yet been reported. Case presentation A 74-year-old Caucasian woman showed a sporadic Creutzfeldt–Jakob disease clinical phenotype with reactive depression, followed by cognitive impairment, akinetic-rigid Parkinsonism with pseudobulbar syndrome and gait impairment with motor apraxia, visuospatial disorientation, and evident frontal dysfunction features such as grasping, palmomental reflex and brisk perioral reflexes. She died at age 77. Neuropathological findings showed: spongiform change in the patient’s cerebral cortex, striatum, thalamus and molecular layer of the cerebellum with proteinase K-sensitive synaptic-like, dot-like or target-like prion protein deposition in the cortex, thalamus and striatum; proteinase K-resistant prion protein in the same regions; and elongated plaque-like proteinase K-resistant prion protein in the molecular layer of the cerebellum. Molecular analysis of prion protein after proteinase K digestion revealed decreased signal intensity in immunoblot, a ladder-like protein pattern, and a 71% reduction of PrPSc signal relative to non-digested material. Her cerebellum showed a 2A prion protein type largely resistant to proteinase K. Genotype of polymorphism at codon 129 was valine homozygous. Conclusion Molecular typing of prion protein along with clinical and neuropathological data revealed, to the best of our knowledge, the first case of the coexistence of different protease-sensitive prion proteins in the same patient in a rare case that did not fulfill the current clinical diagnostic criteria for either probable or possible sporadic Creutzfeldt–Jakob disease. This highlights the importance of molecular analyses of several brain regions in order to correctly diagnose rare and atypical prionopathies.

  8. Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X).

    Science.gov (United States)

    Urban, Christian; Weinhäusel, Andreas; Fritsch, Peter; Sovinz, Petra; Weinhandl, Gudrun; Lackner, Herwig; Moritz, Anne; Haas, Oskar A

    2007-02-01

    We report the sporadic case of a 9 year-old boy with Carney syndrome, who presented with precocious puberty due to the endocrinological effects of primary pigmented nodular adrenocortical disease (PPNAD) and a synchronous pituitary adenoma. The adrenal tumor was removed surgically. Following unsuccessful treatment with bromocriptine the pituitary adenoma was also resected and a residual tumor irradiated. Thirty months after diagnosis the boy is free of symptoms. Mutation screening of the entire coding region of the PRKAR1A gene identified five single nucleotide exchanges, four of which were either heterozygous or homozygous polymorphic variants that were also present in his parents. However, the hitherto unreported disease-relevant mutation R96X in exon 3 had occurred de novo on the paternal allele. PMID:17396442

  9. DNA methylation changes in genes frequently mutated in sporadic colorectal cancer and in the DNA repair and Wnt/?-catenin signaling pathway genes.

    Czech Academy of Sciences Publication Activity Database

    Farkas, S. A.; Vymetálková, Veronika; Vodi?ková, Ludmila; Vodi?ka, Pavel; Torbjörn, K. N.

    2014-01-01

    Ro?. 6, ?. 2 (2014), s. 179-191. ISSN 1750-1911 R&D Projects: GA ?R GPP304/11/P715; GA ?R(CZ) GAP304/12/1585; GA MZd NT14329 Institutional support: RVO:68378041 Keywords : CpG * DNA repair genes * sporadic colorectal cancer Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.649, year: 2014

  10. TCEANC2 rs10788972 and rs12046178 variants in the PARK10 region in Chinese Han patients with sporadic Parkinson's disease.

    Science.gov (United States)

    Guo, Yi; Tan, Ting; Deng, Xiong; Song, Zhi; Yang, Zhijian; Yang, Yan; Deng, Hao

    2015-12-01

    Parkinson's disease (PD) is the second most common chronic neuronal degeneration disorder with motor and nonmotor clinical features. The rs10788972 variant of the transcription elongation factor A (SII) N-terminal and central domain containing 2 (TCEANC2) gene in the PARK10 region was recently identified to be strongly related to sporadic PD in the American population. To evaluate whether the same variant is associated with sporadic PD in Chinese Han population, we researched 513 sporadic PD patients and 512 normal controls of Chinese Han ethnicity in Mainland China. No significant difference in genotypic and allelic distributions between patients and control groups for either rs10788972 (for genotypic distribution, ?(2) = 0.412, p = 0.814, and for allelic distribution, ?(2) = 0.280, p = 0.597) or its neighbor marker rs12046178 (for genotypic distribution, ?(2) = 1.500, p = 0.472, and for allelic distribution, ?(2) = 1.339, p = 0.247) was found. Our data suggest that neither variant is related to sporadic PD in Chinese Han population. PMID:26432391

  11. First proteome study of sporadic flowering in bamboo species (Bambusa vulgaris and Dendrocalamus manipureanus) reveal the boom is associated with stress and mobile genetic elements.

    Science.gov (United States)

    Louis, Bengyella; Waikhom, Sayanika Devi; Goyari, Sailendra; Jose, Robinson C; Roy, Pranab; Talukdar, Narayan Chandra

    2015-12-15

    Bamboo species are the fastest-growing plants having a long vegetative cycle. Abrupt switching from the vegetative phase to the reproductive phase via sporadic flowering boom, occasionally leads to death of bamboo clumps, and threatens the existence of many bamboo species. To apprehend the molecular mechanism driving sporadic flowering, proteome changes in the initial and advanced floral buds of two edible bamboo species (Bambusa vulgaris and Dendrocalamus manipureanus) was dissected by two-dimensional gel electrophoresis (2-DE). A total of 39 differentially expressed peptide spots were identified by matrix-assisted laser desorption ionization time-of-flight/time-of-flight mass spectrometry (MALDI-TOF-TOF/MS). In both B. vulgaris and D. manipureanus, identified proteins were categorized as transposon-related, defence and stress-related, cell cycle related, metabolism related, signal transduction related, and some lacked known putative domains. Proteins such as SEPALLATA3, ubiquitin, histone 3, thaumatin-like protein, putative tethering factor, SF-assemblin, polyubiquitin, mitochondrial carrier-like protein and RPT2-like protein were significantly expressed. Differences in D. manipureanus and B. vulgaris suggested that bamboo species have diverse 'drivers' or 'passengers' genes that govern natural sporadic flowering boom. This first floral proteomics analysis of bamboos revealed that sporadic boom is a highly energetic process, associated with stress elements, mobile genetic elements and signal transduction cross-talk elements. PMID:26260016

  12. High-speed solar wind flux detected in middle latitudes on 1-3 April, 1985 according to near-Earth sporadic radiowave radiation

    International Nuclear Information System (INIS)

    A fact of registering high-speed solar wind flux and a flux of solar cosmic ray ions with similar localization in time and space is described according to the sporadic radiowave radiation of the near-Earth cosmic space at the 38 and 325 Hz frequency

  13. Características mamográficas do câncer de mama associadas aos polimorfismos GSTM1 e GSTT1 / Polymorphisms GSTM1 and GSTT1 and sporadic breast cancer mammographic features

    Scientific Electronic Library Online (English)

    Lívia Martins Tavares Scianni, Morais; Cássio, Cardoso Filho; Gustavo Jacob, Lourenço; Julia Yoriko, Shinzato; Luiz Carlos, Zeferino; Carmen Sílvia Passos, Lima; Maria Salete Costa, Gurgel.

    2008-02-01

    Full Text Available INTRODUÇÃO: As enzimas do sistema da glutationa S-transferase (GST) modulam os efeitos da exposição a vários agentes citotóxicos e genotóxicos. Os genes GSTM1 e GSTT1 são polimórficos em humanos e suas deleções têm sido associadas ao aumento do risco de várias neoplasias, dentre elas o câncer de mam [...] a. OBJETIVO: Comparar a freqüência das deleções dos genes GSTM1 e GSTT1 em mulheres sadias e com câncer de mama e comparar as características mamográficas do câncer entre mulheres portadoras e não portadoras das referidas deleções. MÉTODOS: Foram determinadas as freqüências das referidas deleções por PCR em 100 pacientes portadoras de câncer de mama esporádico tratadas de setembro de 2004 a junho de 2005 e em 169 mulheres sadias doadoras de sangue no mesmo período e comparadas através do odds ratio (OR) com seus respectivos IC 95%. Foram revistos os prontuários e as mamografias das pacientes com câncer e avaliadas características mamográficas (padrão de distribuição do parênquima fibro-glandular, achados mamográficos ao diagnóstico e classificação BI-RADS), correlacionando-as às deleções gênicas através do cálculo da RP (razão de prevalência) com seus respectivos IC 95%. RESULTADOS: O GSTM1 esteve deletado em 40% dos cânceres e em 44,4% dos controles (OR=1,20; IC 95% 0,70-2,04; p=0,5659) enquanto o GSTT1 em 20% e 19,5%, respectivamente (OR=0,73; IC 0,37-1,44; p=0,4124). O padrão mamográfico denso esteve associado à deleção homozigótica do GSTM1 (RP= 2,43; IC 1,11-4,08). Não se observou associação entre as deleções do sistema GST e achados mamográficos ao diagnóstico e classificação BI-RADS. CONCLUSÃO: A deleção homozigótica do gene GSTM1 associou-se ao padrão mamográfico denso. Abstract in english INTRODUCTION: Enzymes of the Glutathione S-transferase system (GST) modulate the effects of exposure to several cytotoxic and genotoxic agents. The GSTM1 and GSTT1 genes are polymorphic in humans and their deletions have been associated to increased risk of many cancers, including breast cancer. OBJ [...] ECTIVE: To evaluate the occurrence of homozygous deletions of the GSTM1 and GSTT1 genes in women with sporadic breast cancer and in women without cancer and to compare breast cancer mammographic features between patients with and without these deletions. METHODS: The study evaluated 100 patients with sporadic breast cancer treated from September 2004 to June 2005 and 169 women without cancer, determining the frequency of the above-mentioned deletions by PCR and calculating the odds ratios and their 95% confidence intervals. Medical files and mammograms of 100 patients with breast cancer were evaluated and correlated with mammographic features such as density, mammographic findings and the BI-RADS classification. These findings were correlated with the genetic deletions by the PR (Prevalence-Ratio) with their respective 95% confidence intervals. RESULTS: The GSTM1 gene was deleted in 40% of the cancers and in 44.4% of controls (OR = 1.20; CI 95% 0.70 - 2.04; p=0.5659) while the GSTT1 gene was deleted in 20% and 19.5%, respectively (OR = 0.73; CI 95% 0.37-1.44; p=0.4124). High mammographic density had been associated with GSTM1 deletion (PR 2.43; CI 1.11 to 4.08). GST deletions were not associated with predominant mammographic findings and the BI-RADS classification. CONCLUSION: GSTM1 homozygous deletion was associated with high mammographic density.

  14. Familial/Bilateral and Sporadic Testicular Germ Cell Tumors Show Frequent Genetic Changes at Loci with Suggestive Linkage Evidence

    Directory of Open Access Journals (Sweden)

    Rolf I. Skotheim

    2001-01-01

    Full Text Available Testicular germ cell tumor (TGCT is the most common tumor type among adolescent and young adult males. Familial clustering and bilateral disease are suggestive of a genetic predisposition among a subgroup of these patients, but susceptibility genes for testicular cancer have not yet been identified. However, suggestive linkage between disease and genetic markers has been reported at loci on chromosome arms 3q, 5q, 12q, 18q, and Xq. We have analyzed primary familial/ bilateral (n=20 and sporadic (n=27 TGCTs, including 28 seminomas and 19 nonseminomas, for allelic imbalance (AI within the autosomal regions. DNA from all tumors were analyzed by fluorescent polymerase chain reaction of 22 polymorphic loci at 3q27-ter, 5q13-35.1, 12q21-ter, and 18q12-ter. All tumor genotypes were evaluated against their corresponding constitutional genotypes. The percentages of TGCTs with genetic changes at 3q, 5q, 12q, and 18q, were 79%, 36%, 53% and 43%, respectively. The frequencies at 3q and 12q in nonseminomas were significantly higher than in seminomas (P=.003 and P=.004. In order to evaluate changes at hemizygous Xq loci, five loci were analyzed by co-amplification with an autosomal reference marker known to reveal retained heterozygosity in the tumor DNA. Gain of Xq sequences was seen in more than 50% of the tumors. The degree of amplification varied among the loci in each of five tumors, and based on these breakpoints, a common region of overlapping gains was found at X828. No significant differences were found between the frequencies of genetic changes in familial /bilateral versus sporadic tumors, an observation speaking in disfavor of the existence of a single susceptibility gene for TGCT in any of the analyzed regions. Our data suggest that gain of genetic material at distal Xq and losses at 5q and 18q contribute to establishment of seminomas, whereas imbalances at 3q as well as gain at distal part of 12q are associated with further progression into nonseminomas.

  15. Fatores de risco na gagueira desenvolvimental familial e isolada / Risk factors in the familial and sporadic developmental stuttering

    Scientific Electronic Library Online (English)

    Cristiane Moço Canhetti de, Oliveira; Heloisa Aparecida de, Souza; Ana Claudia dos, Santos; Denise, Cunha; Célia Maria, Giacheti.

    2011-04-01

    Full Text Available OBJETIVO: investigar e comparar os achados dos fatores de risco para a cronicidade da gagueira em crianças com gagueira desenvolvimental familial e isolada. MÉTODOS: participaram 60 crianças de ambos os gêneros, divididas em dois grupos: GI - 30 crianças com gagueira desenvolvimental familial; GII - [...] 30 crianças com gagueira desenvolvimental isolada. A coleta de dados foi realizada por meio do Protocolo de Risco para a Gagueira do Desenvolvimento - PRGD (Andrade, 2006), que considera os seguintes fatores de risco: idade, gênero, tipo de surgimento e tempo de duração das disfluências, tipologia das disfluências, fatores comunicativos e qualitativos associados, histórico mórbido pré, peri e pós natal, fatores estressantes que ocorreram próximo ao surgimento do distúrbio, histórico familial, reação pessoal, familiar e social e atitudes familiares. RESULTADOS: quando o grupo I (GI) foi comparado com o grupo II (GII), a única diferença estatisticamente significante foi com relação aos fatores estressantes que ocorreram próximo ao surgimento do distúrbio. CONCLUSÃO: os resultados confirmam a natureza complexa da gagueira, bem como a necessidade de se investigar os vários fatores considerados como de risco para o distúrbio, com intuito de melhorar a compreensão de suas possíveis etiologias. Abstract in english PURPOSE: to investigate and compare the risk factors for stuttering between children with familial developmental stuttering and children with sporadic developmental stuttering. METHODS: 60 children of both genders with stuttering took part, divided in two groups: GI - 30 children with familial devel [...] opmental stuttering; GII - 30 children with sporadic developmental stuttering. Data were gathered through the Protocol of Risk for the Developmental Stuttering - PRGD (Andrade, 2006), which considers the following factors: age; gender; manner of onset and time of duration for the disfluencies; typology of the disfluencies; associated communicative and qualitative factors; physical and emotional stress; family history concerning stuttering; personal, familiar and social reaction, and familiar attitudes. RESULTS: when Group I (GI) was compared to Group II (GII), the only statically difference was related to emotional stress that occurred near the onset of the disorder. CONCLUSION: the results confirm the complexity of stuttering, as well as the need for investigating the risk factors for this disorder in order to improve the understanding of its possible etiologies.

  16. Fatores de risco na gagueira desenvolvimental familial e isolada Risk factors in the familial and sporadic developmental stuttering

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    Cristiane Moço Canhetti de Oliveira

    2011-04-01

    Full Text Available OBJETIVO: investigar e comparar os achados dos fatores de risco para a cronicidade da gagueira em crianças com gagueira desenvolvimental familial e isolada. MÉTODOS: participaram 60 crianças de ambos os gêneros, divididas em dois grupos: GI - 30 crianças com gagueira desenvolvimental familial; GII - 30 crianças com gagueira desenvolvimental isolada. A coleta de dados foi realizada por meio do Protocolo de Risco para a Gagueira do Desenvolvimento - PRGD (Andrade, 2006, que considera os seguintes fatores de risco: idade, gênero, tipo de surgimento e tempo de duração das disfluências, tipologia das disfluências, fatores comunicativos e qualitativos associados, histórico mórbido pré, peri e pós natal, fatores estressantes que ocorreram próximo ao surgimento do distúrbio, histórico familial, reação pessoal, familiar e social e atitudes familiares. RESULTADOS: quando o grupo I (GI foi comparado com o grupo II (GII, a única diferença estatisticamente significante foi com relação aos fatores estressantes que ocorreram próximo ao surgimento do distúrbio. CONCLUSÃO: os resultados confirmam a natureza complexa da gagueira, bem como a necessidade de se investigar os vários fatores considerados como de risco para o distúrbio, com intuito de melhorar a compreensão de suas possíveis etiologias.PURPOSE: to investigate and compare the risk factors for stuttering between children with familial developmental stuttering and children with sporadic developmental stuttering. METHODS: 60 children of both genders with stuttering took part, divided in two groups: GI - 30 children with familial developmental stuttering; GII - 30 children with sporadic developmental stuttering. Data were gathered through the Protocol of Risk for the Developmental Stuttering - PRGD (Andrade, 2006, which considers the following factors: age; gender; manner of onset and time of duration for the disfluencies; typology of the disfluencies; associated communicative and qualitative factors; physical and emotional stress; family history concerning stuttering; personal, familiar and social reaction, and familiar attitudes. RESULTS: when Group I (GI was compared to Group II (GII, the only statically difference was related to emotional stress that occurred near the onset of the disorder. CONCLUSION: the results confirm the complexity of stuttering, as well as the need for investigating the risk factors for this disorder in order to improve the understanding of its possible etiologies.

  17. Integral analysis of p53 and its value as prognostic factor in sporadic colon cancer

    International Nuclear Information System (INIS)

    p53 (encoded by TP53) is involved in DNA damage repair, cell cycle regulation, apoptosis, aging and cellular senescence. TP53 is mutated in around 50% of human cancers. Nevertheless, the consequences of p53 inactivation in colon cancer outcome remain unclear. Recently, a new role of p53 together with CSNK1A1 in colon cancer invasiveness has been described in mice. By combining data on different levels of p53 inactivation, we aimed to predict p53 functionality and to determine its effects on colon cancer outcome. Moreover, survival effects of CSNK1A1 together with p53 were also studied. Eighty-three formalin fixed paraffin embedded colon tumors were enriched for tumor cells using flow sorting, the extracted DNA was used in a custom SNP array to determine chr17p13-11 allelic state; p53 immunostaining, TP53 exons 5, 6, 7 and 8 mutations were determined in combination with mRNA expression analysis on frozen tissue. Patients with a predicted functional p53 had a better prognosis than patients with non functional p53 (Log Rank p=0.009). Expression of CSNK1A1 modified p53 survival effects. Patients with low CSNK1A1 expression and non-functional p53 had a very poor survival both in the univariate (Log Rank p<0.001) and in the multivariate survival analysis (HR=4.74 95% CI 1.45 – 15.3 p=0.009). The combination of mutational, genomic, protein and downstream transcriptional activity data predicted p53 functionality which is shown to have a prognostic effect on colon cancer patients. This effect was specifically modified by CSKN1A1 expression

  18. TP53 mutations in ovarian carcinomas from sporadic cases and carriers of two distinct BRCA1 founder mutations; relation to age at diagnosis and survival

    International Nuclear Information System (INIS)

    Ovarian carcinomas from 30 BRCA1 germ-line carriers of two distinct high penetrant founder mutations, 20 carrying the 1675delA and 10 the 1135insA, and 100 sporadic cases were characterized for somatic mutations in the TP53 gene. We analyzed differences in relation to BRCA1 germline status, TP53 status, survival and age at diagnosis, as previous studies have not been conclusive. DNA was extracted from paraffin embedded formalin fixed tissues for the familial cases, and from fresh frozen specimen from the sporadic cases. All cases were treated at our hospital according to protocol. Mutation analyses of exon 2 – 11 were performed using TTGE, followed by sequencing. Survival rates for BRCA1-familial cases with TP53 mutations were not significantly lower than for familial cases without TP53 mutations (p = 0.25, RR = 1.64, 95% CI [0.71–3.78]). Median age at diagnosis for sporadic (59 years) and familial (49 years) cases differed significantly (p < 0.001) with or without TP53 mutations. Age at diagnosis between the two types of familial carriers were not significantly different, with median age of 47 for 1675delA and 52.5 for 1135insA carriers (p = 0.245). For cases ?50 years at diagnosis, a trend toward longer survival for sporadic over familial cases was observed (p = 0.08). The opposite trend was observed for cases <50 years at diagnosis. There do not seem to be a protective advantage for familial BRCA1 carriers without TP53 mutations over familial cases with TP53 mutations. However, there seem to be a trend towards initial advantage in survival for familial cases compared to sporadic cases diagnosed before the age of 50 both with and without TP53 mutations. However, this trend diminishes over time and for cases diagnosed ?50 years the sporadic cases show a trend towards an advantage in survival over familial cases. Although this data set is small, if confirmed, this may be a link in the evidence that the differences in ovarian cancer survival reported, are not due to the type of BRCA1 mutation, but may be secondary to genetic factors shared. This may have clinical implications for follow-up such as prophylactic surgery within carriers of the two most frequent Norwegian BRCA1 founder mutations

  19. Association of CYP1A1 A4889G and T6235C polymorphisms with the risk of sporadic breast cancer in Brazilian women

    Science.gov (United States)

    de Oliveira, Camila Borges Martins; Cardoso-Filho, Cássio; Bossi, Leonardo Silveira; Lourenço, Gustavo Jacob; Costa-Gurgel, Maria Salete; Lima, Carmen Silvia Passos

    2015-01-01

    OBJECTIVES: We examined the influence of CYP1A1 A4889G and T6235C polymorphisms on the risk of sporadic breast cancer. METHOD: DNA from 742 sporadic breast cancer patients and 742 controls was analyzed using the polymerase chain reaction, followed by the restriction fragment length polymorphism technique. RESULTS: More patients had the CYP1A1 4889AG+GG genotype compared to controls (29.0% versus 23.2%, p=0.004). The G allele carriers had a 1.50-fold increased risk (95% CI: 1.14–1.97) of sporadic breast cancer compared to the other study participants. The frequency of the 4889AG+GG genotype among the Caucasian patients was higher than in the non-Caucasian patients (30.4% versus 20.2%, p=0.03) and controls (30.4% versus 23.2%, p=0.002). Caucasians and G allele carriers had a 1.61-fold increased risk (95% CI: 1.20–2.15) of sporadic breast cancer compared to other subjects. The CYP1A1 4889AG+GG genotype was more common among patients with a younger median age at first full-term pregnancy than among controls (33.8% versus 23.2%, p=0.001) and subjects whose first full-term pregnancies occurred at an older age (33.8% versus 26.1%, p=0.03). Women with the CYP1A1 4889AG+GG genotype and earlier first full-term pregnancies had a 1.87-fold (95% CI: 1.32–2.67) increased risk of sporadic breast cancer compared to the other study participants. Excess CYP1A1 4889AG+GG (39.8% versus 27.1%, p=0.01) and 6235TC+CC (48.4% versus 35.9%, p=0.02) genotypes were also observed in patients with grade I and II tumors compared to patients with grade III tumors and controls (39.8% versus 23.2%, p=0.04; 48.4% versus 38.6%, p=0.04). The G and C allele carriers had a 2.44-fold (95% CI: 1.48–4.02) and 1.67-fold (95% CI: 1.03–2.69) increased risk, respectively, of developing grade I and II tumors compared to other subjects. CONCLUSIONS: The CYP1A1 A4889G and T6235C polymorphisms may alter the risk of sporadic breast cancer in Brazilian women. PMID:26598080

  20. Investigation of DNA damage response and apoptotic gene methylation pattern in sporadic breast tumors using high throughput quantitative DNA methylation analysis technology

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    Prakash Neeraj

    2010-11-01

    Full Text Available Abstract Background- Sporadic breast cancer like many other cancers is proposed to be a manifestation of abnormal genetic and epigenetic changes. For the past decade our laboratory has identified genes involved in DNA damage response (DDR, apoptosis and immunesurvelliance pathways to influence sporadic breast cancer risk in north Indian population. Further to enhance our knowledge at the epigenetic level, we performed DNA methylation study involving 17 gene promoter regions belonging to DNA damage response (DDR and death receptor apoptotic pathway in 162 paired normal and cancerous breast tissues from 81 sporadic breast cancer patients, using a high throughput quantitative DNA methylation analysis technology. Results- The study identified five genes with statistically significant difference between normal and tumor tissues. Hypermethylation of DR5 (P = 0.001, DCR1 (P = 0.00001, DCR2 (P = 0.0000000005 and BRCA2 (P = 0.007 and hypomethylation of DR4 (P = 0.011 in sporadic breast tumor tissues suggested a weak/aberrant activation of the DDR/apoptotic pathway in breast tumorigenesis. Negative correlation was observed between methylation status and transcript expression levels for TRAIL, DR4, CASP8, ATM, CHEK2, BRCA1 and BRCA2 CpG sites. Categorization of the gene methylation with respect to the clinicopathological parameters showed an increase in aberrant methylation pattern in advanced tumors. These uncharacteristic methylation patterns corresponded with decreased death receptor apoptosis (P = 0.047 and DNA damage repair potential (P = 0.004 in advanced tumors. The observation of BRCA2 -26 G/A 5'UTR polymorphism concomitant with the presence of methylation in the promoter region was novel and emerged as a strong candidate for susceptibility to sporadic breast tumors. Conclusion- Our study indicates that methylation of DDR-apoptotic gene promoters in sporadic breast cancer is not a random phenomenon. Progressive epigenetic alterations in advancing tumors result in aberrant DDR-apoptotic pathway thereby promoting tumor development. We propose, since pathological epigenetic changes of the DDR-apoptotic genes are reversible modifications, these could further be targeted for therapeutic interventions.

  1. The ‘Pokemon’ (ZBTB7) Gene: No Evidence of Association with Sporadic Breast Cancer

    OpenAIRE

    Antonio Salas; Ana Vega; Milne, Roger L.; Manuel García-Magariños; Álvaro Ruibal; Javier Benítez; Ángel Carracedo

    2008-01-01

    It has been proposed that the excess of familiar risk associated with breast cancer could be explained by the cumulative effect of multiple weakly predisposing alleles. The transcriptional repressor FBI1, also known as Pokemon, has recently been identified as a critical factor in oncogenesis. This protein is encoded by the ZBTB7 gene. Here we aimed to determine whether polymorphisms in ZBTB7 are associated with breast cancer risk in a sample of cases and controls collected in hospitals from N...

  2. High prevalence and genetic diversity of noroviruses among children with sporadic acute gastroenteritis in Nanning City, China, 2010-2011.

    Science.gov (United States)

    Tan, Dongmei; Deng, Lili; Wang, Mingliu; Li, Xiugui; Ma, Yuyan; Liu, Wei

    2015-03-01

    A molecular epidemiological study of Norovirus (NoV) infections in children aged Fecal samples were collected from 354 pediatric patients with acute gastroenteritis, and were screened for the presence of NoV with one-step real-time reverse-transcription polymerase chain reaction (RT-PCR). NoV genogroup II (GII) was detected in 28.5% (101/342) of samples, but no NoV GI was found. Eighty-four of the NoV GII strains were successfully sequenced, and they were clustered into seven genotypes: GII.4 (77.4%), GII.2 (8.3%), GII.14 (4.8%), GII.7 (3.6%), GII.3 (2.4%), GII.6 (2.4%), and GII.12 (1.2%). The predominant GII.4 variant in circulation was variant 2006b (92.3%). Importantly, the emergence of variant GII.4 2010 was detected. NoV was detected throughout the year, but mainly during the cold months. The highest prevalence of NoV was detected in young children aged genetic diversity of NoVs in children with sporadic acute gastroenteritis in Nanning. Our study findings indicate the need for continual surveillance to monitor epidemiological changes and potential new variants of these viruses. PMID:25604456

  3. A molecular analysis by gene expression profiling reveals Bik/NBK overexpression in sporadic breast tumor samples of Mexican females

    International Nuclear Information System (INIS)

    Breast cancer is one of the most frequent causes of death in Mexican women over 35 years of age. At molecular level, changes in many genetic networks have been reported as associated with this neoplasia. To analyze these changes, we determined gene expression profiles of tumors from Mexican women with breast cancer at different stages and compared these with those of normal breast tissue samples. 32P-radiolabeled cDNA was synthesized by reverse transcription of mRNA from fresh sporadic breast tumor biopsies, as well as normal breast tissue. cDNA probes were hybridized to microarrays and expression levels registered using a phosphorimager. Expression levels of some genes were validated by real time RT-PCR and immunohistochemical assays. We identified two subgroups of tumors according to their expression profiles, probably related with cancer progression. Ten genes, unexpressed in normal tissue, were turned on in some tumors. We found consistent high expression of Bik gene in 14/15 tumors with predominant cytoplasmic distribution. Recently, the product of the Bik gene has been associated with tumoral reversion in different neoplasic cell lines, and was proposed as therapy to induce apoptosis in cancers, including breast tumors. Even though a relationship among genes, for example those from a particular pathway, can be observed through microarrays, this relationship might not be sufficient to assign a definitive role to Bik in development and progression of the neoplasia. The findings herein reported deserve further investigation

  4. Treatment decision-making for sporadic small vestibular schwannoma in a pediatric patient: A case report and literature review

    Science.gov (United States)

    WANG, JUN; XU, YAJING; LEI, TING; ZENG, LIANG

    2015-01-01

    The current study reports the case of a 15-year-old male who presented with hearing loss due to a small left-sided vestibular schwannoma (VS) not associated with neurofibromatosis type 2 (NF2), which had been apparent for six months. Magnetic resonance imaging with gadolinium diethylenetriamine penta-acetic acid revealed a mass, 10 mm in diameter, located in the left inner auditory canal. The patient had no family history of NF2 and gene mutation analysis showed no signs of the condition. Small sporadic or non-NF2 VS is extremely rare and the treatment decision-making process is complicated in children when considering the implications for the impairment of childhood development and lifelong disability. Following careful consideration, the patient in the present study underwent treatment with stereotactic radiosurgery. The five-year post-operative follow-up examination showed tumor stability without additional neurological deficits and at the time of writing the patient was alive and well. PMID:26137073

  5. Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1

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    Cesar Luiz Boguszewski

    2010-11-01

    Full Text Available We report the use of a genetic test for therapeutic decision making in a case of primary hyperparathyroidism associated with Cushing's disease (CD. A 20-year-old woman was evaluated for gradual weight gain, asthenia, muscle pain, and hypertension. Biochemical and radiologic tests confirmed CD and she underwent transsphenoidal surgery. Immunohistochemistry of the microadenoma was positive for adrenocorticotropic hormone (ACTH. On follow-up, hypercalcemia with high parathyroid hormone (PTH levels was detected, associated with nephrolithiasis and low bone mineral density in the spine and hip. Parathyroid scintigraphy showed tracer uptake in the inferior region of the left thyroid lobe, and cervical ultrasound showed a heterogeneous nodule in the same area, suggestive of a parathyroid adenoma (PA. Genetic testing detected mutation in the MEN 1 gene and total parathyroidectomy with the implantation of a fragment of one gland in the forearm was performed. Pathology showed a PA and 3 normal parathyroid glands, without hyperplasia, despite the diagnosis of MEN 1. This case illustrates the role of genetic testing in defining the therapeutic approach for sporadic MEN 1.

  6. Orbital sporadic Burkitt lymphoma in an adult diabetic African American female and a review of adult orbital cases

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    Carmody J

    2011-04-01

    Full Text Available John Carmody1, Raghunath P Misra1,2, Marlyn P Langford1, William A Byrd1, Lauren Ditta1, Bryan Vekovius1, Donald E Texada11Department of Ophthalmology, 2Department of Pathology, Louisiana State University Health Sciences Center, Shreveport, LA, USAAbstract: A case of sporadic Burkitt lymphoma (sBL presenting with jaw and lid involvement in a diabetic adult African American female and a review of adult orbital Burkitt lymphoma cases are presented. Lid edema, visual loss, ophthalmoparesis, proptosis, and sinusitis progressed over 4 weeks despite antibiotic and steroid treatment. Upper lid biopsy histopathological evaluation and immunophenotyping revealed a homogenous mass of atypical CD10 and CD20-negative B-cells and tingible body macrophages yielding a "starry sky" appearance. Cytogenetic analysis detected a minor variant c-MYC translocation, but no Epstein–Barr virus RNA. Detection of multiple lesions prompted a diagnosis of stage IV disease that totally regressed following radiation and chemotherapy. Review results of the six adult orbital sBL cases support a poor prognosis and a heightened suspicion of variant CD10, CD20 and BCL6 positive sBL in adults presenting with jaw pain and rapidly progressive orbital symptoms, particularly in female, African American, and diabetic patients.Keywords: B-cells, Burkitt lymphoma, cancer, diabetes, eye, Epstein–Barr virus, orbit, tumor

  7. Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.

    Science.gov (United States)

    Fujita, Atsushi; Ando, Katsutoshi; Kobayashi, Etsuko; Mitani, Keiko; Okudera, Koji; Nakashima, Mitsuko; Miyatake, Satoko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Seyama, Kuniaki; Miyake, Noriko; Matsumoto, Naomichi

    2016-01-01

    Lymphangioleiomyomatosis (LAM) (MIM #606690) is a rare lung disorder leading to respiratory failure associated with progressive cystic destruction due to the proliferation and infiltration of abnormal smooth muscle-like cells (LAM cells). LAM can occur alone (sporadic LAM, S-LAM) or combined with tuberous sclerosis complex (TSC-LAM). TSC is caused by a germline heterozygous mutation in either TSC1 or TSC2, and TSC-LAM is thought to occur as a result of a somatic mutation (second hit) in addition to a germline mutation in TSC1 or TSC2 (first hit). S-LAM is also thought to occur under the two-hit model involving a somatic mutation and/or loss of heterozygosity in TSC2. To identify TSC1 or TSC2 changes in S-LAM patients, the two genes were analyzed by deep next-generation sequencing (NGS) using genomic DNA from blood leukocytes (n = 9), LAM tissue from lung (n = 7), LAM cultured cells (n = 4), or LAM cell clusters (n = 1). We identified nine somatic mutations in six of nine S-LAM patients (67 %) with mutant allele frequencies of 1.7-46.2 %. Three of these six patients (50 %) showed two different TSC2 mutations with allele frequencies of 1.7-28.7 %. Furthermore, at least five mutations with low prevalence (NGS. PMID:26563443

  8. Interaction between lifestyle factors and the XRCC1, XPD, and XRCC3 genetic variations modulates the risk for sporadic colorectal cancer

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    Procopciuc Lucia Maria

    2014-03-01

    Full Text Available Introducere: Varia?iile genetice, cum ar fi cele care influen?eaz? sistemele de reparare a defectelor de replicare a ADN, pot reprezenta factori de susceptibilitate în cancerul colorectal sporadic (CCR ca urmare a interac?iunii cu factori de mediu. Material ?i metod?: 80 de femei ?i 70 de b?rba?i, pacien?i diagnostica?i cu CCR sporadic în Clinica Chirurgie III Cluj au fost genotipa?i pentru Arg399Gln-XRCC1, Lys751Gln-XPD ?i Met241Thr-XRCC3 utilizând metodele PCR-RFLP. Am determinat de asemenea, genotipurile pentru 100 femei ?i 62 b?rba?i , care au format grupul de control. Rezultatele au fost analizate din punct de vedere al rela?iei cu factorii de risc de mediu, fumatul ?i dieta. Rezultate: B?rba?ii fum?tori purt?tori ai varia?iilor genetice Arg399Gln, Lys751Gln, Met241Thr au avut un risc semnificativ crescut de 4.09 (95%IC[0.96-19.98],p=0.05, 5.95(95%IC[1.08-43.22],p=0.03 ?i respectiv 3.73(95%IC[0.86-18.53],p=0.05 de a dezvolta cancer colorectal sporadic. Un risc semnificativ crescut de a dezvolta cancer colorectal sporadic a fost observat în cazul femeilor ?i b?rba?ilor cu o diet? bogat? în carne ro?ie pr?jit? purt?tori ai varia?iilor genetice Arg399Gln (OR 2.77 95%IC [1.34-6.82],p=0.015 ?i OR 8.64 95%IC[2.67-29.14],p<0.001, Lys751Gln (OR 4.12 95%IC[1.37-12.74],p=0.007 ?i OR 5.06 95%IC[1.4- 19.02],p=0.006, Met241Thr (OR5.92 95%IC[2.21-16.23],p<0.001 ?i OR 5.64 95%IC[1.52-21.7],p=0.022. Femeile a c?ror diet? a inclus cantit??i mari de carne ro?ie pr?jit? au avut un risc semnificativ crescut de a dezvolta timpuriu cancer colorectal sporadic dac? au fost purt?toare a varia?iilor genetice Arg399Gln-XRCC1 (OR 5.14 95%IC[0.99-28.3],p=0.047, Thr241Met-XRCC3 (OR 6.67 95%IC[1.05-46.67],p=0.025 ?i Lys751Gln-XPD (OR 4.7 95%IC[0.99-23.32],p=0.034. Concluzii: În cazul popula?iei de origine român?, asocierea genotipurilor mutante cu factori de mediu moduleaz? riscul pentru CCR sporadic. La femei, fumatul în asociere cu varia?ia genetic? Arg399Gln-XRCC1 influen?eaz? debutul timpuriu al cancerului colorectal sporadic. Tot în cazul femeilor, dieta bogat? în carne ro?ie pr?jit? în asociere cu varia?iile genetice Arg399Gln-XRCC1, Lys751Gln-XPD ?i Thr241Met- XRCC3 influen?eaz? semnificativ riscul de apari?ie al cancerului colorectal sporadic.

  9. A expressão de genes reparadores do DNA nos tumores sincrônicos de câncer colorretal esporádico DNA repair gene expression in synchronic tumors of sporadic colorectal cancer

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    Igor Proscurshim

    2007-03-01

    Full Text Available RACIONAL: Um dos mecanismos genéticos presentes em aproximadamente 80% dos pacientes com síndrome hereditária não-polipóide do câncer colorretal (HNPCC são os defeitos nos genes reparadores de DNA, como o MSH2, MSH6 e MLH1, onde os tumores sincrônicos são relativamente freqüentes. Já no câncer colorretal esporádico as lesões sincrônicas são raras. OBJETIVO: Verificar se o mesmo mecanismo genético presente no HNPCC está presente no câncer colorretal esporádico que apresentam com lesões sincrônicas. MÉTODOS: Foram incluídos no estudo todos os pacientes com câncer colorretal sincrônico não HNPCC. Imunoistoquímica com anticorpos para MSH2,MSH6, e MLH1 foi realizada para cada tumor. RESULTADOS: Todos os pacientes apresentaram expressão normal de MSH2 e MLH1. O único gene com imunoexpressão alterada foi o MSH6. CONCLUSÃO: Possivelmente outro mecanismo genético seja responsável pelo surgimento de dois tumores sincrônicos no câncer colorretal esporádico.BACKGROUND: Mismatch repair genes (such as MSH2, MLH1 and MSH6 mutations are present in over 80% of hereditary non-polyposis colorectal cancer (HNPCC tumors, which frequently exhibit synchronous lesions. Sporadic colorectal cancer is rarely associated with synchronous lesions. AIM: To investigate the role of mismatch repair gene mutation in synchronous sporadic colorectal cancer. METHODS: Patients with sporadic synchronous colorectal adenocarcinomas were included in the study. Immunohistochemistry was performed using MSH2, MLH1 and MSH6 antibodies. RESULTS: All patients had two synchoronous lesions. None of them had altered MSH2 or MLH1 expression. One patient had altered MSH6 expression in both tumors. CONCLUSION: Possibly, other molecular mechanisms are involved in carcinogenesis of sporadic synchronous colorectal cancer.

  10. The first report of RPSA polymorphisms, also called 37/67 kDa LRP/LR gene, in sporadic Creutzfeldt-Jakob disease (CJD

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    Jeong Byung-Hoon

    2011-08-01

    Full Text Available Abstract Background Although polymorphisms of PRNP, the gene encoding prion protein, are known as a determinant affecting prion disease susceptibility, other genes also influence prion incubation time. This finding offers the opportunity to identify other genetic or environmental factor (s modulating susceptibility to prion disease. Ribosomal protein SA (RPSA, also called 37 kDa laminin receptor precursor (LRP/67 kDa laminin receptor (LR, acts as a receptor for laminin, viruses and prion proteins. The binding/internalization of prion protein is dependent for LRP/LR. Methods To identify other susceptibility genes involved in prion disease, we performed genetic analysis of RPSA. For this case-control study, we included 180 sporadic Creutzfeldt-Jakob disease (CJD patients and 189 healthy Koreans. We investigated genotype and allele frequencies of polymorphism on RPSA by direct sequencing or restriction fragment length polymorphism (RFLP analysis. Results We observed four single nucleotide polymorphisms (SNPs, including -8T>C (rs1803893 in the 5'-untranslated region (UTR of exon 2, 134-32C>T (rs3772138 in the intron, 519G>A (rs2269350 in the intron and 793+58C>T (rs2723 in the intron on the RPSA. The 519G>A (at codon 173 is located in the direct PrP binding site. The genotypes and allele frequencies of the RPSA polymorphisms showed no significant differences between the controls and sporadic CJD patients. Conclusion These results suggest that these RPSA polymorphisms have no direct influence on the susceptibility to sporadic CJD. This was the first genetic association study of the polymorphisms of RPSA gene with sporadic CJD.

  11. Tissue classification for the epidemiological assessment of surgical transmission of sporadic Creutzfeldt-Jakob disease. A proposal on hypothetical risk levels

    OpenAIRE

    Calero Miguel; Siden Åke; Mølbak Kåre; de Pedro-Cuesta Jesús; Rábano Alberto; Laursen Henning

    2005-01-01

    Abstract Background Epidemiological studies on the potential role of surgery in Creutzfeldt-Jakob Disease transmission have disclosed associations with history of specific surgical interventions or reported negative results. Methods Within the context of a case-control study designed to address surgical risk of sporadic Creutzfeldt-Jakob Disease in Nordic European countries (EUROSURGYCJD Project), a strategy was adopted to categorise reported surgical procedures in terms of potential risk of ...

  12. A expressão de genes reparadores do DNA nos tumores sincrônicos de câncer colorretal esporádico / DNA repair gene expression in synchronic tumors of sporadic colorectal cancer

    Scientific Electronic Library Online (English)

    Igor, Proscurshim; Rodrigo Oliva, Perez; Rosa Maria Nascimento, Santos; Edson Luiz, Zaparoli; Desidério Roberto, Kiss; Angelita, Habr-Gam.

    2007-03-01

    Full Text Available RACIONAL: Um dos mecanismos genéticos presentes em aproximadamente 80% dos pacientes com síndrome hereditária não-polipóide do câncer colorretal (HNPCC) são os defeitos nos genes reparadores de DNA, como o MSH2, MSH6 e MLH1, onde os tumores sincrônicos são relativamente freqüentes. Já no câncer colo [...] rretal esporádico as lesões sincrônicas são raras. OBJETIVO: Verificar se o mesmo mecanismo genético presente no HNPCC está presente no câncer colorretal esporádico que apresentam com lesões sincrônicas. MÉTODOS: Foram incluídos no estudo todos os pacientes com câncer colorretal sincrônico não HNPCC. Imunoistoquímica com anticorpos para MSH2,MSH6, e MLH1 foi realizada para cada tumor. RESULTADOS: Todos os pacientes apresentaram expressão normal de MSH2 e MLH1. O único gene com imunoexpressão alterada foi o MSH6. CONCLUSÃO: Possivelmente outro mecanismo genético seja responsável pelo surgimento de dois tumores sincrônicos no câncer colorretal esporádico. Abstract in english BACKGROUND: Mismatch repair genes (such as MSH2, MLH1 and MSH6) mutations are present in over 80% of hereditary non-polyposis colorectal cancer (HNPCC) tumors, which frequently exhibit synchronous lesions. Sporadic colorectal cancer is rarely associated with synchronous lesions. AIM: To investigate [...] the role of mismatch repair gene mutation in synchronous sporadic colorectal cancer. METHODS: Patients with sporadic synchronous colorectal adenocarcinomas were included in the study. Immunohistochemistry was performed using MSH2, MLH1 and MSH6 antibodies. RESULTS: All patients had two synchoronous lesions. None of them had altered MSH2 or MLH1 expression. One patient had altered MSH6 expression in both tumors. CONCLUSION: Possibly, other molecular mechanisms are involved in carcinogenesis of sporadic synchronous colorectal cancer.

  13. Enhanced Sensitivity for Detection of Low-Level Germline Mosaic RB1 Mutations in Sporadic Retinoblastoma Cases Using Deep Semiconductor Sequencing

    OpenAIRE

    Chen, Zhao; Moran, Kimberly; Richards-Yutz, Jennifer; Toorens, Erik; Gerhart, Daniel; Ganguly, Tapan; Carol L. Shields; Ganguly, Arupa

    2013-01-01

    Sporadic retinoblastoma (RB) is caused by de novo mutations in the RB1 gene. Often, these mutations are present as mosaic mutations that cannot be detected by Sanger sequencing. Next-generation deep sequencing allows unambiguous detection of the mosaic mutations in lymphocyte DNA. Deep sequencing of the RB1 gene on lymphocyte DNA from 20 bilateral and 70 unilateral RB cases was performed, where Sanger sequencing excluded the presence of mutations. The individual exons of the RB1 gene from eac...

  14. Protease-Sensitive Conformers in Broad Spectrum of Distinct PrPSc Structures in Sporadic Creutzfeldt-Jakob Disease Are Indicator of Progression Rate

    OpenAIRE

    Kim, Chae; Haldiman, Tracy; Cohen, Yvonne; Chen, Wei; Blevins, Janis; Sy, Man-Sun; Cohen, Mark; Safar, Jiri G.

    2011-01-01

    The origin, range, and structure of prions causing the most common human prion disease, sporadic Creutzfeldt-Jakob disease (sCJD), are largely unknown. To investigate the molecular mechanism responsible for the broad phenotypic variability of sCJD, we analyzed the conformational characteristics of protease-sensitive and protease-resistant fractions of the pathogenic prion protein (PrPSc) using novel conformational methods derived from a conformation-dependent immunoassay (CDI). In 46 brains o...

  15. WNT-pathway components as predictive markers useful for diagnosis, prevention and therapy in inflammatory bowel disease and sporadic colorectal cancer

    OpenAIRE

    Serafino, Annalucia; Moroni, Noemi; Zonfrillo, Manuela; Andreola, Federica; Mercuri, Luana; Nicotera, Giuseppe; Nunziata, Joseph; Ricci, Riccardo; Antinori, Armando; Rasi, Guido; Pierimarchi, Pasquale

    2014-01-01

    The key role of the Wnt/?-catenin signaling in colorectal cancer (CRC) insurgence and progression is now recognized and several therapeutic strategies targeting this pathway are currently in developing. Wnt/?-catenin signaling not only dominates the early stages of sporadic colorectal cancer (SCC), but could also represent the connection between inflammatory bowel diseases (IBD) and increased risk of developing SCC. The knowledge on the sequential molecular events of Wnt-signaling cascade in ...

  16. Sporadic distribution of prion-forming ability of Sup35p from yeasts and fungi.

    Science.gov (United States)

    Edskes, Herman K; Khamar, Hima J; Winchester, Chia-Lin; Greenler, Alexandria J; Zhou, Albert; McGlinchey, Ryan P; Gorkovskiy, Anton; Wickner, Reed B

    2014-10-01

    Sup35p of Saccharomyces cerevisiae can form the [PSI+] prion, an infectious amyloid in which the protein is largely inactive. The part of Sup35p that forms the amyloid is the region normally involved in control of mRNA turnover. The formation of [PSI+] by Sup35p's from other yeasts has been interpreted to imply that the prion-forming ability of Sup35p is conserved in evolution, and thus of survival/fitness/evolutionary value to these organisms. We surveyed a larger number of yeast and fungal species by the same criteria as used previously and find that the Sup35p from many species cannot form prions. [PSI+] could be formed by the Sup35p from Candida albicans, Candida maltosa, Debaromyces hansenii, and Kluyveromyces lactis, but orders of magnitude less often than the S. cerevisiae Sup35p converts to the prion form. The Sup35s from Schizosaccharomyces pombe and Ashbya gossypii clearly do not form [PSI+]. We were also unable to detect [PSI+] formation by the Sup35ps from Aspergillus nidulans, Aspergillus fumigatus, Magnaporthe grisea, Ustilago maydis, or Cryptococcus neoformans. Each of two C. albicans SUP35 alleles can form [PSI+], but transmission from one to the other is partially blocked. These results suggest that the prion-forming ability of Sup35p is not a conserved trait, but is an occasional deleterious side effect of a protein domain conserved for another function. PMID:25081567

  17. A case-control study of risk factors for sporadic campylobacter infections in Denmark

    DEFF Research Database (Denmark)

    Neimann, J.; Engberg, J.

    2003-01-01

    A case control study comprising 282 cases and 319 matched controls was conducted in Denmark during 1996-7. Two estimates of the odds ratio (OR) were determined for each risk factor with and without 'protective factors' fitted into the final model. Consumption of undercooked poultry (OR 4(.)5; 8(.)2), consumption of red meat at a barbecue (OR 2(.)3; 4(.)1), consumption of grapes (OR 1(.)6; 2(.)8) and drinking unpasteurized milk (OR 2(.)3; 11(.)8) were identified as risk factors in both models. Frequent consumption of pork chops (OR 4(.)4) and daily contact with domestic animals and pets were identified as risk factors in one of the two models only. Finally, foreign travel was found to be a significant risk factor (OR 2(.)5). Seasonal and regional interaction was observed for several risk factors and the time elapsed from interviewing of cases to interviewing of controls seemed to influence the effect of certain seasonal dependent risk factors.

  18. Spectrum and significance of variants and mutations in the Fanconi anaemia group G gene in children with sporadic acute myeloid leukaemia.

    Science.gov (United States)

    Meyer, Stefan; Barber, Lisa M; White, Daniel J; Will, Andrew M; Birch, Jillian M; Kohler, Janice A; Ersfeld, Klaus; Blom, Eric; Joenje, Hans; Eden, Tim O B; Malcolm Taylor, G

    2006-05-01

    Childhood acute myeloid leukaemia (AML) is uncommon. Children with Fanconi anaemia (FA), however, have a very high risk of developing AML. FA is a rare inherited disease caused by mutations in at least 12 genes, of which Fanconi anaemia group G gene (FANCG) is one of the commonest. To address to what extent FANCG variants contribute to sporadic childhood AML, we determined the spectrum of FANCG sequence variants in 107 children diagnosed with sporadic AML, using polymerase chain reaction (PCR), fluorescent single-strand conformational polymorphism (SSCP) and sequencing methodologies. The significance of variants was determined by frequency analysis and assessment of evolutionary conservation. Seven children (6.5%) carried variants in FANCG. Two of these carried two variants, including the known IVS2 + 1G>A mutation with the novel missense mutation S588F, and R513Q with the intronic deletion IVS12-38 (-28)_del11, implying that these patients might have been undiagnosed FA patients. R513Q, which affects a semi-conserved amino acid, was carried in two additional children with AML. Although not significant, the frequency of R513Q was higher in children with AML than unselected cord bloods. While FANCG mutation carrier status does not predispose to sporadic AML, the identification of unrecognised FA patients implies that FA presenting with primary AML in childhood is more common than suspected. PMID:16643430

  19. Does Contrast-Enhanced Cervical Ultrasonography Improve Preoperative Localization Results in Patients With Sporadic Primary Hyperparathyroidism?

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    Elias Karakas

    2012-01-01

    Full Text Available Objective: Pre-operative localization studies are inevitable in patients with primary hyperparathyroidism (pHPT, who are eligible for focused or minimally invasive parathyroidectomy (MIP. High-resolution ultrasonography (US in combination with planar 99m Tc-Sestamibi-scintigraphy (MIBI and additional single-photon emission computed tomography (SPECT are the standard procedures to localize enlarged parathyroid glands. Our aim was to evaluate the practicability and significance of contrast-enhanced ultrasonography (CEUS in patients with pHPT. Materials and Methods: All investigations were performed at the University Hospital Marburg. Totally, 25 patients with biochemical proven pHPT underwent preoperative US, MIBI/SPECT, and CEUS. For CEUS, a suspension of phospholipid-stabilized sulfur-hexafluoride (SF6 microbubbles in combination with a special 12 MHz linear US probe was used. All patients were investigated by two sonographers, who did not get to view the findings noted by the other. Finally, surgery was performed and histopathological results were obtained from 24 patients. Results: In 17 (68% patients, US and MIBI/SPECT already raised suspicion of parathyroid lesions and all suspected lesions were reassessed by CEUS. However, no additional information was obtained using CEUS. Especially in eight patients with negative or inconsistent US and MIBI/SPECT results, CEUS did not provide additional information regarding the site of the suspected parathyroid adenoma. Overall, no side effects were observed using CEUS. Surgical cure was achieved in all patients. Conclusion: In this limited cohort of patients, no additional information could be obtained using the costly CEUS compared to results of US and MIBI/SPECT.

  20. Intermittent thermal plasma acceleration linked to sporadic motions of the magnetopause, first Cluster results

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    J.-A. Sauvaud

    Full Text Available This paper presents the first observations with Cluster of a very dense population of thermal ionospheric ions (H+, He+, O+ locally "accelerated" perpendicularly to the local magnetic field in a region adjacent to the magnetopause and on its magnetospheric side. The observation periods follow a long period of very weak magnetic activity. Recurrent motions of the magnetopause are, in the presented cases, unexpectedly associated with the appearance inside closed field lines of recurrent energy structures of ionospheric ions with energies in the 5 eV to  ~1000 eV range. The heaviest ions were detected with the highest energies. Here, the ion behaviour is interpreted as resulting from local electric field enhancements/decreases which adiabatically enhance/lower the bulk energy of a local dense thermal ion population. This drift effect, which is directly linked to magnetopause motions caused by pressure changes, allows for the thermal ions to overcome the satellite potential and be detected by the suprathermal CIS Cluster experiment. When fast flowing, i.e. when detectable, the density (~ 1 cm-3 of these ions from a terrestrial origin is (in the cases presented here largely higher than the local density of ions from magnetospheric/plasma sheet origin which poses again the question of the relative importance of solar and ionospheric sources for the magnetospheric plasma even during very quiet magnetic conditions.

    Key words. Ionosphere (planetary ionosphere; plasma convection Magnetospheric physics (magnetopause, cusp and boundary layers

  1. CADASIL: Una forma de demencia vascular hereditaria: Presentación de un caso clínico aparentemente esporádico / CADASIL: Hereditary vascular dementia: Description of an apparently sporadic clinical case

    Scientific Electronic Library Online (English)

    David, Sáez; Osvaldo, Trujillo; Jorge, Nogales-Gaete; Tatiana, Figueroa; Daniel, Valenzuela.

    2003-01-01

    Full Text Available Presentamos un caso de CADASIL (acrónimo inglés de arteriopatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía), que corresponde al primero de una serie de 4 casos diagnosticados en nuestro servicio desde 1998, con correlato clínico, imageno-lógico y de ultrapatología [...] muscular (microscopia electrónica). Se trata de una paciente mujer con historia de dos crisis isquémicas cerebrales transitorias a los 29 años, sin factores de riesgo tradicionales para patología cerebrovascular, que luego de 7 años desarrolló síntomas de tipo depresivos, asociados a un cuadro de retraimiento sicomotor y parkinsonismo de carácter progresivo y sin respuesta a terapia farmacológica convencional. En su estudio, la resonancia nuclear magnética de cerebro mostró extensas alteraciones en sustancia blanca a nivel fronto-occipital, bilaterales, hiperintensas en T2 e hipointensas en T1, cuya señal no se reforzó con gadolinio, sin efecto de masa, asociadas a leucoaraiosis, compatibles con el diagnóstico de CADASIL. El estudio de una biopsia muscular mediante microscopia electrónica, confirmó una arteriopatia con depósito de material granular osmiofílico en los vasos sanguíneos, tipo CADASIL. No encontramos antecedentes de cuadros demenciales ni cerebrovasculares sintomáticos en otros parientes de la paciente, madre, padre, tíos, abuelos, por lo que es probable que se trate de un cuadro esporádico. No realizamos estudio genético ni biopsico de los parientes asintomáticos. Las características de la paciente ilustran cuando sospechar el diagnóstico de CADASIL, aún frente a un caso aparentemente esporádico Abstract in english We describe a patient with CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), the first of four patients diagnosed in our service since 1998, correlating clinical, imaging, and muscular pathology (on electronic microscopy) data. The patient is a wom [...] an with no risk factors for cerebrovascular pathology who suffered two transient ischemic attacks at the age of 29. Seven years later, she developed symptoms of depression manifested as psychomotor withdrawal and progressive Parkinsonism that did not respond to pharmacological treatment. An MRI brain scan showed extensive bilateral alterations in the white matter in the frontal and occipital regions, hyperintense in T2 and hypointense in T1-weighted images, without gadolinium enhancement. They had no mass effect, were associated with leukoaraiosis, and were compatible with the diagnosis of CADASIL. Muscle biopsy showed an arteriopathy with CADASIL-type osmiophilic granular deposits in the blood vessels. No history of symptomatic dementia or cerebrovascular disorders were found among the patient’s mother, father, aunts, uncles, or grandparents. This is most likely a sporadic case. No genetic studies or biopsies were done in asymptomatic relatives

  2. CADASIL: Una forma de demencia vascular hereditaria: Presentación de un caso clínico aparentemente esporádico CADASIL: Hereditary vascular dementia: Description of an apparently sporadic clinical case

    Directory of Open Access Journals (Sweden)

    David Sáez

    2003-01-01

    Full Text Available Presentamos un caso de CADASIL (acrónimo inglés de arteriopatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía, que corresponde al primero de una serie de 4 casos diagnosticados en nuestro servicio desde 1998, con correlato clínico, imageno-lógico y de ultrapatología muscular (microscopia electrónica. Se trata de una paciente mujer con historia de dos crisis isquémicas cerebrales transitorias a los 29 años, sin factores de riesgo tradicionales para patología cerebrovascular, que luego de 7 años desarrolló síntomas de tipo depresivos, asociados a un cuadro de retraimiento sicomotor y parkinsonismo de carácter progresivo y sin respuesta a terapia farmacológica convencional. En su estudio, la resonancia nuclear magnética de cerebro mostró extensas alteraciones en sustancia blanca a nivel fronto-occipital, bilaterales, hiperintensas en T2 e hipointensas en T1, cuya señal no se reforzó con gadolinio, sin efecto de masa, asociadas a leucoaraiosis, compatibles con el diagnóstico de CADASIL. El estudio de una biopsia muscular mediante microscopia electrónica, confirmó una arteriopatia con depósito de material granular osmiofílico en los vasos sanguíneos, tipo CADASIL. No encontramos antecedentes de cuadros demenciales ni cerebrovasculares sintomáticos en otros parientes de la paciente, madre, padre, tíos, abuelos, por lo que es probable que se trate de un cuadro esporádico. No realizamos estudio genético ni biopsico de los parientes asintomáticos. Las características de la paciente ilustran cuando sospechar el diagnóstico de CADASIL, aún frente a un caso aparentemente esporádicoWe describe a patient with CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, the first of four patients diagnosed in our service since 1998, correlating clinical, imaging, and muscular pathology (on electronic microscopy data. The patient is a woman with no risk factors for cerebrovascular pathology who suffered two transient ischemic attacks at the age of 29. Seven years later, she developed symptoms of depression manifested as psychomotor withdrawal and progressive Parkinsonism that did not respond to pharmacological treatment. An MRI brain scan showed extensive bilateral alterations in the white matter in the frontal and occipital regions, hyperintense in T2 and hypointense in T1-weighted images, without gadolinium enhancement. They had no mass effect, were associated with leukoaraiosis, and were compatible with the diagnosis of CADASIL. Muscle biopsy showed an arteriopathy with CADASIL-type osmiophilic granular deposits in the blood vessels. No history of symptomatic dementia or cerebrovascular disorders were found among the patient’s mother, father, aunts, uncles, or grandparents. This is most likely a sporadic case. No genetic studies or biopsies were done in asymptomatic relatives

  3. Methylenetetrahydrofolate reductase C677T genotype affects promoter methylation of tumor-specific genes in sporadic colorectal cancer through an interaction with folate/vitamin B status

    Directory of Open Access Journals (Sweden)

    Pooneh Mokarram, Fakhraddin Naghibalhossaini, Mehdi Saberi Firoozi, Seyed Vahid Hosseini, Ahmad Izadpanah, Heshmetalah Salahi, Seyed Ali Malek-Hosseini, Abdoulrasool Talei, Mehra Mojallal

    2008-06-01

    Full Text Available AIM: To evaluate joint effects of Methylentetrahydrofolate reductase (MTHFR C677T genotypes, and serum folate/vitamin B12 concentrations on promoter methylation of tumor-associated genes among Iranian colorectal cancer patients.METHODS: We examined the associations between MTHFR C677T genotype, and promoter methylation of P16, hMLH1, and hMSH2 tumor-related genes among 151 sporadic colorectal cancer patients. The promoter methylation of tumor-related genes was determined by methylation-specific PCR. Eighty six patients from whom fresh tumor samples were obtained and 81 controls were also examined for serum folate and vitamin B12 concentrations by a commercial radioimmunoassay kit.RESULTS: We found 29.1% of cases had tumors with at least one methylated gene promoter. In case-case comparison, we did not find a significant association between methylation in tumors and any single genotype. However, in comparison to controls with the CC genotype, an increased risk of tumor methylation was associated with the CT genotype (OR = 2.5; 95% CI, 1.1-5.6. In case-case comparisons, folate/vitamin B12 levels were positively associated with tumor methylation. Adjusted odds ratios for tumor methylation in cases with high (above median versus low (below median serum folate/vitamin B12 levels were 4.9 (95% CI, 1.4-17.7, and 3.9 (95% CI, 1.1-13.9, respectively. The frequency of methylated tumors was significantly higher in high methyl donor than low methyl donor group, especially in those with MTHFR CT (P = 0.01, and CT/TT (P = 0.002 genotypes, but not in those with the CC genotype (P = 1.0.CONCLUSION: We conclude that high concentrations of serum folate/vitamin B12 levels are associated with the risk of promoter methylation in tumor-specific genes, and this relationship is modified by MTHFR C677T genotypes.

  4. Mimivirus reveals Mre11/Rad50 fusion proteins with a sporadic distribution in eukaryotes, bacteria, viruses and plasmids

    Directory of Open Access Journals (Sweden)

    Ogata Hiroyuki

    2011-09-01

    Full Text Available Abstract Background The Mre11/Rad50 complex and the homologous SbcD/SbcC complex in bacteria play crucial roles in the metabolism of DNA double-strand breaks, including DNA repair, genome replication, homologous recombination and non-homologous end-joining in cellular life forms and viruses. Here we investigated the amino acid sequence of the Mimivirus R555 gene product, originally annotated as a Rad50 homolog, and later shown to have close homologs in marine microbial metagenomes. Results Our bioinformatics analysis revealed that R555 protein sequence is constituted from the fusion of an N-terminal Mre11-like domain with a C-terminal Rad50-like domain. A systematic database search revealed twelve additional cases of Mre11/Rad50 (or SbcD/SbcC fusions in a wide variety of unrelated organisms including unicellular and multicellular eukaryotes, the megaplasmid of a bacterium associated to deep-sea hydrothermal vents (Deferribacter desulfuricans and the plasmid of Clostridium kluyveri. We also showed that R555 homologs are abundant in the metagenomes from different aquatic environments and that they most likely belong to aquatic viruses. The observed phyletic distribution of these fusion proteins suggests their recurrent creation and lateral gene transfers across organisms. Conclusions The existence of the fused version of protein sequences is consistent with known functional interactions between Mre11 and Rad50, and the gene fusion probably enhanced the opportunity for lateral transfer. The abundance of the Mre11/Rad50 fusion genes in viral metagenomes and their sporadic phyletic distribution in cellular organisms suggest that viruses, plasmids and transposons played a crucial role in the formation of the fusion proteins and their propagation into cellular genomes.

  5. Distinct cerebrospinal fluid amyloid ? peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Galasko Douglas

    2010-01-01

    Full Text Available Abstract Background Alzheimer's disease (AD is associated with deposition of amyloid ? (A? in the brain, which is reflected by low concentration of the A?1-42 peptide in the cerebrospinal fluid (CSF. There are at least 15 additional A? peptides in human CSF and their relative abundance pattern is thought to reflect the production and degradation of A?. Here, we test the hypothesis that AD is characterized by a specific CSF A? isoform pattern that is distinct when comparing sporadic AD (SAD and familial AD (FAD due to different mechanisms underlying brain amyloid pathology in the two disease groups. Results We measured A? isoform concentrations in CSF from 18 patients with SAD, 7 carriers of the FAD-associated presenilin 1 (PSEN1 A431E mutation, 17 healthy controls and 6 patients with depression using immunoprecipitation-mass spectrometry. Low CSF levels of A?1-42 and high levels of A?1-16 distinguished SAD patients and FAD mutation carriers from healthy controls and depressed patients. SAD and FAD were characterized by similar changes in A?1-42 and A?1-16, but FAD mutation carriers exhibited very low levels of A?1-37, A?1-38 and A?1-39. Conclusion SAD patients and PSEN1 A431E mutation carriers are characterized by aberrant CSF A? isoform patterns that hold clinically relevant diagnostic information. PSEN1 A431E mutation carriers exhibit low levels of A?1-37, A?1-38 and A?1-39; fragments that are normally produced by ?-secretase, suggesting that the PSEN1 A431E mutation modulates ?-secretase cleavage site preference in a disease-promoting manner.

  6. Somatic copy-neutral loss of heterozygosity and copy number abnormalities in Malaysian sporadic colorectal carcinoma patients.

    Science.gov (United States)

    Yam, Y Y; Hoh, B P; Othman, N H; Hassan, S; Yahya, M M; Zakaria, Z; Ankathil, R

    2013-01-01

    Colorectal cancer is one of the most common cancers in many countries, including Malaysia. The accumulation of genomic alterations is an important feature of colorectal carcinogenesis. A better understanding of the molecular events underlying the stages of colorectal carcinogenesis might be helpful in the detection and management of the disease. We used a commercially available single-nucleotide polymorphism genotyping array to detect both copy number abnormalities (CNAs) and copy-neutral loss of heterozygosity (LOH) in sporadic colorectal carcinomas. Matched tumor and normal tissues of 13 colorectal carcinomas (Dukes' stages A-D) were analyzed using a 250K single nucleotide polymorphism array. An additional assay was performed to determine the microsatellite instability status by using the National Cancer Institute-recommended BAT-26 panel. In general, copy number gain (92.3%) was most common, followed by copy number loss (53.8%) and copy-neutral LOH (46.2%). Frequent CNAs of gains and losses were observed on chromosomes 7p, 8, 13q, 17p, 18q, and 20q, and copy-neutral LOH was observed on chromosomes 2, 6, 12, 13q, 14q, 17, 20p, 19q, and 22q. Even though genomic alterations are associated with colorectal cancer progression, our results showed that DNA CNAs and copy-neutral LOH do not reflect disease progression in at least 50% tumors. Copy-neutral LOH was observed in both early and advanced tumors, which favors the involvement of these genomic alterations in the early stages of tumor development. PMID:23420356

  7. Diffusion-weighted imaging and magnetic resonance spectroscopy of sporadic Creutzfeldt-Jakob disease: correlation with clinical course

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jae Hyoung; Choi, Byung Se; Jung, Cheolkyu [Seoul National University Bundang Hospital, Department of Radiology, Seoul National University College of Medicine, Seongnam-si (Korea, Republic of); Chang, YoungHee; Kim, SangYun [Seoul National University Bundang Hospital, Department of Neurology, Seoul National University College of Medicine, Seongnam-si (Korea, Republic of)

    2011-12-15

    Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal disease with variable clinical courses. The presence or absence of basal ganglia (BG) involvement has been reported to be associated with clinical course. We investigated the association of clinical course of sCJD with diffusion-weighted imaging (DWI) and MR spectroscopy (MRS) as well as BG involvement at early stage. DWI and single voxel proton MRS were performed in 14 patients with sCJD during the initial diagnostic workup. Apparent diffusion coefficient (ADC) and metabolites were measured in medial occipitoparietal cortices where large hyperintense DWI lesions were found in all patients. The presence or absence of BG involvement, ADC, N-acetylaspartate (NAA)/creatine (Cr) ratios, and choline (Cho)/Cr ratios were correlated with disease duration (i.e., the time from the symptom onset to death). The disease duration ranged from 2 to 31 months (median, 16). Hyperintense DWI lesions were observed bilaterally in both cortices and basal ganglia in eight patients and in cortices alone in six patients. Patients with BG involvement had shorter disease duration (median, 6.8 versus 20.5; p = 0.039) than those without and lower NAA/Cr ratios (median, 1.41 versus 2.03; p = 0.001). ADC and Cho/Cr ratios were not significantly different between the patients with BG involvement and those without. By multiple regression analysis, NAA/Cr ratios had the greatest correlation with the disease duration (p = 0.029). The disease duration of sCJD was variable. NAA/Cr ratios of the affected brain at the early stage of sCJD can be used as a useful parameter in predicting the clinical course. (orig.)

  8. Promoter Hypermethylation of Estrogen Receptor Alpha Gene Is Correlated to Estrogen Receptor Negativity in Iranian Patients with Sporadic Breast Cancer

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    Mohammad Taghi Akbari

    2012-01-01

    Full Text Available Objective: Breast Cancer is the most common cancer in Iranian women. Breast tumors are classified based on the estrogen receptor alpha (ER? expression status into ER negative and ER positive tumors. ER negative tumors tend to have worse prognosis and less likely to respond to endocrine therapy. Aberrant methylation of gene promoter is one of the mechanisms for gene silencing in breast tumors. Because of its reversible nature, promoter methylation is a good target for new therapeutic strategies. We aimed to evaluate the frequency of this epigenetic event in ER? gene and its association to clinicopathological features in Iranian breast cancer patients.Materials and Methods: In this case control study the patient series consisted of 100 sporadic primary breast cancer cases (51 ER negative and 49 ER positive tumors. None of the participants had chemo or radiotherapy before surgery. In breast tumors ER? promoter methylation were assessed with methylation specific polymerase chain reaction (MSP. Data was collected on clinicopathological features of the patients. Correlation between ER? methylation and clinicopathological characteristics of the patients was investigated by Pearson Chi-Square and Fisher’s exact test.Results: ER? methylation was detected in 98% of ER negative and 65% of ER positive breast tumors. A strong correlation was found between ER? methylation and ER negativity in tumors (p<0.0001. Also, ER? methylation has associated to progesterone receptor negativity (p<0.008 and double receptor negative status (p<0.0001 in breast tumors.Conclusion: ER? methylation occurs with high frequency in the breast tumors of Iranian breast cancer patients and may play a considerable role in pathogenesis of ER? negative tumors as a poor prognosis and more aggressive category. The reversible nature of DNA methylation may provide new therapeutic possibilities in ER negative breast tumors.

  9. Epidemiological investigation of 264 sporadic cases of ruptured cerebral aneurysm at a single institution in southwest China

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    Liu H

    2015-07-01

    Full Text Available Heng Liu,1 Tijiang Zhang,1 Song Jiao,2 Bangguo Li,1 Jing Guan,1 Yi-Xiang J Wang3 1Department of Radiology, 2Cerebrovascular Diseases Clinic, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou Province, 3Department of Imaging and Interventional Radiology, Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, People’s Republic of China Background: The purpose of this study was to investigate the epidemiology of sporadic ruptured cerebral aneurysm in the Chinese population. Methods: We retrospectively analyzed the medical records of 264 consecutive Chinese patients admitted to the Affiliated Hospital of Zunyi Medical University of Guizhou Province in Southwest China between December 2012 and March 2015 for spontaneous subarachnoid hemorrhage due to a ruptured cerebral artery aneurysm.Results: The study population comprised 171 females and 93 males with a median age of 50 (range 5–76 years. The female to male ratio was 1.84:1. For both males and females, aneurysm rupture was most common in the 40–49-year age group (34.5%. Most of the ruptured aneurysms were in the size range of 2–5 mm (47.2%, followed by 5–10 mm (43.8%. Ruptured aneurysms occurred most often in the posterior communicating artery (36.6% or the anterior communicating artery (25.7%. There were more cases of anterior communicating artery aneurysm on the left side (53 [Left side]/16 [Right side]=3.31, P<0.001 and slightly more cases of posterior communicating artery aneurysm on the right side (54 [Right side]/44[Left side]=1.23, P>0.05.Conclusion: This study provides valuable information on the epidemiology of ruptured cerebral aneurysm in the Chinese population. Keywords: cerebral aneurysm, rupture, subarachnoid hemorrhage, Chinese population, epidemiology

  10. Electron density and plasma waves in mid-latitude sporadic-E layer observed during the SEEK-2 campaign

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    H. Mori

    2005-10-01

    Full Text Available The SEEK-2 campaign was carried out over Kyushu Island in Japan on 3 August 2002, by using the two sounding rockets of S310-31 and S310-32. This campaign was planned to elucidate generation mechanisms of Quasi-Periodic Echoes (QPEs associated with mid-latitude sporadic-E (Es layers. Electron number densities were successfully measured in the Es layers by using the impedance probe on board two rockets. The plasma waves in the VLF and ELF ranges were also observed on board the S310-32 rocket. Results of electron density measurement showed that there were one or two major peaks in the Es layers along the rockets' trajectories near the altitude of about 10km. There were some smaller peaks associated with the main Es layers in the altitude range from 90 to 120 km. These density peaks were distributed in a very large extent during the SEEK-2 campaign. The Es layer structure is also measured by using the Fixed Bias Probe (FBP, which has a high spatial resolution of several meters (the impedance probe has an altitude resolution of about 400 m. The comparison with the total electron content (TEC measured by the Dual Band Beacon revealed that the Es layer was also modulated in the horizontal direction with the scale size of 30–40 km. It was shown that the QP echoes observed by the ground-based coherent radar come from the major density peak of the Es layer. The plasma wave instrument detected the enhancement of VLF and ELF plasma waves associated with the operation of the TMA release, and also with the passage of the Es layers. Keywords. Ionosphere (Ionospheric irregularities; Midlatitude ionosphere; Plasma temeperature and density

  11. Evidence for an association of TP53 codon 72 polymorphism with sporadic colorectal cancer risk in Isfahan

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    Mehdi Nikbakht Dastjerdi

    2008-12-01

    Full Text Available

    • BACKGROUND: A common polymorphism at codon 72 of TP53 gene has been associated with increased risk for many human cancers. We studied this TP53 polymorphism in colorectal adenocarcinomas in small population selected from Isfahan city.
    • METHODS: Samples: We undertook a case-control study on 180 controls and 180 paraffin block specimens of sporadic colorectal adenocarcinomas. PCR amplification of TP53 codon 72 polymorphism: TP53 codon 72 genotypes were detected by PCR using specific primer pairs for amplifying the Proline or the Arginine alleles.
    • STATISTICAL ANALYSES: The 42-test was used to assess the significance of any difference in the prevalence of TP53 codon 72 polymorphism between colorectal cancer patients and controls.
    • RESULTS: In control samples, the genotype distribution for TP53 polymorphism showed 28.3%, 48.9% and 22.8% for the Arginine/Arginine, Arginine/Proline and Proline/Proline genotypes, respectively. In the cancer group 40% of the cases were Arginine/Arginine, 42.2% were Arginine/Proline and 17.8% were Proline/Proline. A significant difference between cases and controls was found for the Arginine/Arginine genotype compared with (grouped Arginine/Proline and Proline/Proline genotypes (Odds Ratio = 1.686 (1.085-2.620, P = 0.02.
    • CONCLUSIONS: TP53 codon 72 polymorphism may be a genetic predisposing factor for colorectal adenocarcinomas in Isfahan city.
    • KEYWORDS: Colorectal adenocarcinoma, TP53, Arginine, Proline, Polymorphism.

  12. Risk Factors for Sporadic Domestically Acquired Campylobacter Infections in Norway 2010–2011: A National Prospective Case-Control Study

    Science.gov (United States)

    Mexia, Ricardo; Bruun, Tone; Kapperud, Georg; Lange, Heidi; Nygård, Karin; Vold, Line

    2015-01-01

    Background Campylobacteriosis is the most frequently reported food- and waterborne infection in Norway. We investigated the risk factors for sporadic Campylobacter infections in Norway in order to identify areas where control and prevention measures could be improved. Methods A national prospective case-control study of factors associated with Campylobacter infection was conducted from July 2010 to September 2011. Cases were recruited from the Norwegian Surveillance System of Communicable Diseases (MSIS). Controls were randomly selected from the Norwegian Population Registry. Cases and controls were mailed a paper questionnaire with a prepaid return envelope. Univariable analyses using logistic regression were conducted for all exposures. A final parsimonious multivariable model was developed using regularized/penalized logistic regression, and adjusted odds ratios were calculated. Results A total of 995 cases and 1501 controls were included in the study (response proportion 55% and 30%, respectively). Exposures that had significant increases in odds of Campylobacter infection in multivariable analysis were drinking water directly from river, stream, or lake (OR: 2.96), drinking purchased bottled water (OR: 1.78), eating chicken (1.69), eating meat that was undercooked (OR: 1.77), eating food made on a barbecue (OR: 1.55), living on a farm with livestock (OR: 1.74), having a dog in the household (OR: 1.39), and having household water supply serving fewer than 20 houses (OR: 1.92). Conclusions Consumption of poultry and untreated water remain important sources of Campylobacter infection in Norway, despite ongoing control efforts. The results justify the need for strengthening education for consumers and food handlers about the risks of cross-contamination when preparing poultry and with consuming raw or undercooked chicken. The public should also be reminded to take precautions when drinking untreated water in nature and ensure continued vigilance in order to protect and maintain the quality of water from small-scale water supply systems. PMID:26431341

  13. Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma

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    Cobbs Gary A

    2007-05-01

    Full Text Available Abstract Background N-acetyltransferase 1 (NAT1 and 2 (NAT2 are polymorphic isoenzymes responsible for the metabolism of numerous drugs and carcinogens. Acetylation catalyzed by NAT1 and NAT2 are important in metabolic activation of arylamines to electrophilic intermediates that initiate carcinogenesis. Inflammatory bowel diseases (IBD consist of Crohn's disease (CD and ulcerative colitis (UC, both are associated with increased colorectal cancer (CRC risk. We hypothesized that NAT1 and/or NAT2 polymorphisms contribute to the increased cancer evident in IBD. Methods A case control study was performed with 729 Caucasian participants, 123 CRC, 201 CD, 167 UC, 15 IBD dysplasia/cancer and 223 controls. NAT1 and NAT2 genotyping were performed using Taqman based techniques. Eight single nucleotide polymorphisms (SNPs were characterized for NAT1 and 7 SNPs for NAT2. Haplotype frequencies were estimated using an Expectation-Maximization (EM method. Disease groups were compared to a control group for the frequencies at each individual SNP separately. The same groups were compared for the frequencies of NAT1 and NAT2 haplotypes and deduced NAT2 phenotypes. Results No statistically significant differences were found for any comparison. Strong linkage disequilibrium was present among both the NAT1 SNPs and the NAT2 SNPs. Conclusion This study did not demonstrate an association between NAT1 and NAT2 polymorphisms and IBD or sporadic CRC, although power calculations indicate this study had sufficient sample size to detect differences in frequency as small as 0.05 to 0.15 depending on SNP or haplotype.

  14. Sporadic meningioangiomatosis-associated atypical meningioma mimicking parenchymal invasion of brain: a case report and review of the literature

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    Luo Bo-ning

    2010-06-01

    Full Text Available Abstract Meningioangiomatosis is a rare hamartomatous lesion or meningiovascular malformation in brain. In extremely rare condition, meningioma may occur together with meningioangiomatosis, and only 19 cases have been described in English literature until now. We now report a case of meningioangiomatosis-associated meningioma with atypical and clear cell variant. A 34-year-old man presented a 3-month history of progressive numbness and weakness of his left lower extremity. He had no stigmata of neurofibromatosis type 2. Magnetic resonance imaging (MRI revealed multifocal lesions in the right frontoparietal lobe. The lesions were totally removed. Microscopically, parts of lesions were atypical and clear cell meningioma corresponding to WHO grade II. The adjacent brain parenchyma showed the histological features of meningioangiomatosis. Neoplastic cells in atypical meningioma area were immunoreactive to epithelial membrane antigen (EMA with high MIB-1 index of up to 20%. However, the spindle cells in meningioangiomatosis area were negative for EMA with low MIB-1 index of up to 1%. The diagnosis of atypical meningioma associated with sporadic meningioangiomatosis was made. To our knowledge, this is the first case of a meningioangiomatosis-associated meningioma with atypical and clear cell variant component to be described. The patient had been followed-up for 11 months without adjuvant radiotherapy or chemotherapy. No tumor recurrence was found during this period. Meningioangiomatosis-associated meningioma is more likely to occur in younger patients and histologically to mimic parenchymal invasion of brain. We suggest that postoperative radiotherapy or chemotherapy should be given careful consideration to avoid over-treatment due to erroneously interpret as malignant meningioma.

  15. Diffusion-weighted imaging and magnetic resonance spectroscopy of sporadic Creutzfeldt-Jakob disease: correlation with clinical course

    International Nuclear Information System (INIS)

    Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal disease with variable clinical courses. The presence or absence of basal ganglia (BG) involvement has been reported to be associated with clinical course. We investigated the association of clinical course of sCJD with diffusion-weighted imaging (DWI) and MR spectroscopy (MRS) as well as BG involvement at early stage. DWI and single voxel proton MRS were performed in 14 patients with sCJD during the initial diagnostic workup. Apparent diffusion coefficient (ADC) and metabolites were measured in medial occipitoparietal cortices where large hyperintense DWI lesions were found in all patients. The presence or absence of BG involvement, ADC, N-acetylaspartate (NAA)/creatine (Cr) ratios, and choline (Cho)/Cr ratios were correlated with disease duration (i.e., the time from the symptom onset to death). The disease duration ranged from 2 to 31 months (median, 16). Hyperintense DWI lesions were observed bilaterally in both cortices and basal ganglia in eight patients and in cortices alone in six patients. Patients with BG involvement had shorter disease duration (median, 6.8 versus 20.5; p = 0.039) than those without and lower NAA/Cr ratios (median, 1.41 versus 2.03; p = 0.001). ADC and Cho/Cr ratios were not significantly different between the patients with BG involvement and those without. By multiple regression analysis, NAA/Cr ratios had the greatest correlation with the disease duration (p = 0.029). The disease duration of sCJD was variable. NAA/Cr ratios of the affected brain at the early stage of sCJD can be used as a useful parameter in predicting the clinical course. (orig.)

  16. Genetic variants at chromosome 8q24, colorectal epithelial cell proliferation, and risk for incident, sporadic colorectal adenomas.

    Science.gov (United States)

    Yang, Baiyu; Thyagarajan, Bharat; Gross, Myron D; Goodman, Michael; Sun, Yan V; Bostick, Roberd M

    2014-02-01

    Three polymorphic sites at chromosome 8q24 (rs7837328, rs10808555, rs6983267) have been associated with risk for colorectal adenomas. It was also previously reported that the single nucleotide polymorphism (SNP) rs6983267 may enhance Wnt signaling, which regulates cell proliferation. To investigate associations between the 8q24 variants and colorectal epithelial cell proliferation in the normal-appearing colorectal mucosa, as well as with colorectal adenoma, we analyzed data from a previously conducted pilot, colonoscopy-based case-control study of incident, sporadic colorectal adenoma (n = 90 cases, 132 controls). Proliferation was measured in biopsies of the normal-appearing mucosa of the rectum, sigmoid colon, and cecum using immunohistochemistry for proliferating cell nuclear antigen (PCNA). The direct associations of each SNP with colorectal adenoma were consistent with those in previous reports. For all three SNPs, proliferation tended to be higher among those homozygous for the risk alleles compared to those heterozygous or homozygous for the nonrisk alleles combined; among the controls, proliferation was 32.1% higher (P = 0.23) for those with the rs10808555 GG genotype, 16.4% higher (P = 0.16) for those with the rs7837328 AA genotype, and 6.5% higher (P = 0.52) for those with the rs6983267 GG genotype. These preliminary findings, which are consistent with previously reported direct associations between genetic variants at chromosome 8q24 and risk for colorectal adenoma, suggest that the genetic variants may also be associated with higher levels of colorectal epithelial cell proliferation, thus providing support for further investigation of the hypothesis that 8q24 variants may increase risk via enhanced Wnt signaling. PMID:23776012

  17. Serological profile of sporadic acute viral hepatitis in an area of hyper-endemic hepatitis B virus infection

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    Ayoola Ayobanji

    2001-01-01

    Full Text Available Background: Located in the south western part of Saudi Arabia, the Gizan region is largely a rural community in which hepatitis B and chronic liver disease including hepatocellular carcinoma are highly prevalent. Aim of study: To determine the relative frequencies of acute hepatitis A, B, C and E in acute viral hepatitis in an area of hyperendemic hepatitis B infection. Methods and materials: In a prospective study 246 consecutive patients (179 males and 67 females diagnosed in a 2-year period were tested for markers of Hepatitis A virus (HAV, hepatitis B virus (HBV, hepatitis C (HCV and hepatitis E virus (HEV. Results: Of the patients tested, 131 (53.3% were children (< 10 years, and 42 (17% were 11 - 20 years in age. Ig M anti -HAV, IgM anti-HBV, anti- HCV and IgM anti-HEV were positive in 37%, 19.1%, 3.7% and 13.7% respectively. Markers of these viruses were absent in 24.4%. Among 131 children (< 10 years the commonest cause of AVH was HAV occurring in 57.3% of the cases. In adults (> 21 years HBV was found in 35.6% and IgM anti -HAV was detected in only 6.8%. In contrast to the age- related decline in the frequency of acute HA, the proportion of acute HE were similar in all age groups (13.7% in children, 16.7% in adolescents and 11.0% in adults. Conclusion: The study indicated that HAV is still a common cause of AVH particularly among children in Gizan. Acute 1-113 had a low occurrence among the children, evidently as a consequence of the integration of HB vaccine into the Saudi Arabian national EPI, 10 years ago. With the availability of combined HB and HA vaccines, It should be possible to graft the vaccination against HAV on to the existing program in Saudi Arabia. Affecting 13.4% of the group studied, sporadic HEV constitute a significant cause of AVH in this population. Until HEV vaccine becomes widely available, its prevention would be mainly by the improvement of socio - economic and hygienic standards of the population.

  18. Differences in the Expression of Cold Stress-Related Genes and in the Swarming Motility Among Persistent and Sporadic Strains of Listeria monocytogenes.

    Science.gov (United States)

    Cabrita, Paula; Trigo, Maria João; Ferreira, Ricardo Boavida; Brito, Luisa

    2015-07-01

    The persistence of certain Listeria monocytogenes strains in food-related environments suggests niche adaptation of these strains and therefore constitutes a major risk to consumer health and results in economic losses for the food producer. In this study, a set of 23 L. monocytogenes isolates, including a group of persistent and a group of sporadic strains, was evaluated regarding their swarming motility at 11°C. In each group, significant (p<0.05) differences in motility were observed. The transcript levels of nine cold stress-related genes were analyzed by real-time quantitative PCR in two representatives of persistent (CBISA3077) and sporadic (CBISA3049) strains isolated from the dairy environment, and significant (p<0.05) differences between the two strains were observed. The persistent strain showed significantly higher transcript levels of dtpT and sigB genes, and significantly lower levels of flaA, oppA, lmo1722, and lmo0866 genes. In the persistent strain, the upregulation of sigB, involved in the tolerance to low temperature and to osmotic stress, could account for the persistence of this strain in its original dairy environment. In a similar way, the downregulation of two helicase-encoding genes lmo1722 and lmo0866, in this strain, may be an evolutionary trait that could facilitate cold stress adaptation. Even though this analysis should be extended to more sporadic and more persistent strains, the results presented here strongly suggest gene expression networks differently adjusted, in the two strains, to the low-temperature environment from where they were collected. Moreover, our findings suggest that bacterial motility per se should not be considered a key feature for the persistence of L. monocytogenes in the food environment. PMID:25974395

  19. Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.

    Science.gov (United States)

    Zugazagoitia, Jon; Pérez-Segura, Pedro; Manzano, Arancha; Blanco, Ignacio; Vega, Ana; Custodio, Ana; Teulé, Alex; Fachal, Laura; Martínez, Beatriz; González-Sarmiento, Rogelio; Cruz-Hernández, Juan Jesús; Chirivella, Isabel; Garcés, Vicente; Garre, Pilar; Romero, Atocha; Caldés, Trinidad; Díaz-Rubio, Eduardo; de la Hoya, Miguel

    2014-11-01

    Early-onset diagnosis is an eligibility criterion for BRCA1 and BRCA2 (BRCA) testing in sporadic breast cancer patients. Limited family structure has been proposed as a predictor of BRCA mutation status in this group of patients. An overwhelming amount of data supports a strong association between BRCA1 mutations and triple-negative breast cancer (TNBC). Here, we analyze the feasibility of using limited family structure and TNBC as predictors of BRCA mutation status in early-onset breast cancer patients attending genetic counseling units. We have conducted the study in a cohort of sporadic early-onset (?35 years) breast cancer patients (N = 341) previously selected for BRCA genetic testing in Academic Hereditary Cancer Clinics from Spain. A retrospective review of medical records available at the time of risk assessment allowed us classifying patients according to family structure and TNBC. In addition, BRCAPRO score was calculated for all patients. Association between categorical variables was investigated using the Fisher's exact test. Binary Logistic Regression Analysis was used for multivariate analysis. Limited family structure (OR 3.61, p = 0.013) and TNBC (OR 3.14, p = 0.013) were independent predictors of BRCA mutation status. Mutation prevalence in the subgroup of patients with at least one positive predictor was 14%, whereas it dropped to 3% in non-TNBCs with adequate family history (OR 5.31, 95% CI 1.38-23.89, p = 0.006). BRCAPRO correctly discerned between limited and adequate family structures. Limited family structure and TNBC are feasible predictors of BRCA mutation status in sporadic early-onset (?35 years) breast cancer patients attending genetic counseling units. The low prevalence of mutations observed in non-TNBCs with adequate family structure suggests that this subgroup of patients might be excluded from genetic testing. PMID:25342642

  20. Comparative peptidome analyses of the profiles of the peptides ranging from 1–10 KD in CSF samples pooled from probable sporadic CJD and non-CJD patients

    OpenAIRE

    Chen, Cao; Xiao, Di; Zhou, Wei; Zhang, Yong-Chan; SHI Qi; Tian, Chan; Zhang, Jin; Zhou, Chun-Xi; Zhang, Jian-Zhong; Dong, Xiao-ping

    2012-01-01

    The shotgun strategy applying tandem mass spectrometry has been widely used to identify the proteins that are differentially distributed among diseases for its high reliability and efficiency. To find out the potential difference of protein profiles in cerebrospinal fluids (CSF) between Creutzfeldt-Jakob disease (CJD) and non-CJD patients, especially in the fraction ranging from 1–10 KD, the CSF samples of 40 probable sporadic CJD (sCJD) patients, 32 non-CJD cases with dementia and 17 non-CJD...

  1. Sporadic amyotrophic lateral sclerosis: new hypothesis regarding its etiology and pathogenesis suggests that astrocytes might be the primary target hosting a still unknown external agent

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    Roberto E.P. Sica

    2011-08-01

    Full Text Available This article briefly describes the already known clinical features and pathogenic mechanisms underlying sporadic amyotrophic lateral sclerosis, namely excitoxicity, oxidative stress, protein damage, inflammation, genetic abnormalities and neuronal death. Thereafter, it puts forward the hypothesis that astrocytes may be the cells which serve as targets for the harmful action of a still unknown environmental agent, while neuronal death may be a secondary event following the initial insult to glial cells. The article also suggests that an emergent virus or a misfolded infectious protein might be potential candidates to accomplish this task.

  2. Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

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    Wong Nora

    2006-01-01

    Full Text Available Abstract Background Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor suppressors. Succinate dehydrogenase is a heterotetrameric protein complex and a component of both the Krebs cycle and the mitochondrial respiratory chain (succinate:ubiquinone oxidoreductase or complex II. Methods Using conformation sensitive gel electrophoresis (CSGE and direct DNA sequencing to analyse genomic DNA from peripheral blood lymphocytes, here we describe the mutation analysis of the SDHB and SDHC genes in 37 patients with sporadic (i.e. no known family history head and neck paraganglioma and five pheochromocytoma and/or paraganglioma families. Results Two sporadic patients were found to have a SDHB splice site mutation in intron 4, c.423+1G>A, which produces a mis-spliced transcript with a 54 nucleotide deletion, resulting in an 18 amino acid in-frame deletion. A third patient was found to carry the c.214C>T (p.Arg72Cys missense mutation in exon 4 of SDHC, which is situated in a highly conserved protein motif that constitutes the quinone-binding site of the succinate: ubiquinone oxidoreductase (SQR complex in E. coli. Together with our previous results, we found 27 germline mutations of SDH genes in 95 cases (28% of sporadic head and neck paraganglioma. In addition all index patients of five families showing hereditary pheochromocytoma-paraganglioma were found to carry germline mutations of SDHB: four of which were novel, c.343C>T (p.Arg115X, c.141G>A (p.Trp47X, c.281G>A (p.Arg94Lys, and c.653G>C (p.Trp218Ser, and one reported previously, c.136C>T, p.Arg46X. Conclusion In conclusion, these data indicate that germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma and further underline the importance of germline SDHB mutations in cases of familial pheochromocytoma-paraganglioma.

  3. Morphology and dynamics of daytime mid-latitude sporadic-E patches revealed by GPS total electron content observations in Japan

    Science.gov (United States)

    Maeda, Jun; Heki, Kosuke

    2015-12-01

    Morphological characteristics of daytime mid-latitude sporadic-E (Es) patches are studied by two-dimensional total electron content (TEC) maps drawn using the Japanese dense network of Global Positioning System (GPS) receivers. By analyzing over 70 cases, we found that their horizontal shapes are characterized by frontal structure typically elongated in east-west by ~100 km. They are observed to migrate mainly northward in the morning and southward in the afternoon with speeds of 30-100 m/s. This may reflect the velocities of neutral winds controlled by the atmospheric tides. Such frontal structures are often found to include smaller scale structures.

  4. Optimal diagnostic tests for sporadic Creutzfeldt-Jakob disease based on support vector machine classification of RT-QuIC data

    OpenAIRE

    Hulme, William; Richtárik, Peter; McGuire, Lynne; Green, Alison

    2012-01-01

    In this work we study numerical construction of optimal clinical diagnostic tests for detecting sporadic Creutzfeldt-Jakob disease (sCJD). A cerebrospinal fluid sample (CSF) from a suspected sCJD patient is subjected to a process which initiates the aggregation of a protein present only in cases of sCJD. This aggregation is indirectly observed in real-time at regular intervals, so that a longitudinal set of data is constructed that is then analysed for evidence of this aggre...

  5. The human homologue of unc-93 maps to chromosome 6q27 – characterisation and analysis in sporadic epithelial ovarian cancer

    OpenAIRE

    Charnock F Mark L; Wells R Spencer; Beck Stephan; Mungall Andrew J; Dunham Ian; Emilion Gracy; Dodds Phillippa; Liu Ying; Ganesan Trivadi S

    2002-01-01

    Abstract Background In sporadic ovarian cancer, we have previously reported allele loss at D6S193 (62%) on chromosome 6q27, which suggested the presence of a putative tumour suppressor gene. Based on our data and that from another group, the minimal region of allele loss was between D6S264 and D6S149 (7.4 cM). To identify the putative tumour suppressor gene, we established a physical map initially with YACs and subsequently with PACs/BACs from D6S264 to D6S149. To accelerate the identificatio...

  6. Clinical and epidemiological evaluation of patients with sporadic colorectal cancer / Avaliação clínica e epidemiológica de pacientes com câncer colorretal esporádico

    Scientific Electronic Library Online (English)

    Glaucia Maria de Mendonça, Fernandes; Cássia Veridiana Dourado, Leme; Mariângela Torreglosa, Ruiz-Cintra; Érika Cristina, Pavarino; João Gomes, Netinho; Eny Maria, Goloni-Bertollo.

    2014-12-01

    Full Text Available Experiência: O presente estudo tem como objetivo realizar um levantamento de dados clínicos e fatores sociodemográficos e de risco de pacientes com câncer colorretal esporádico (CCRE) tratados entre 2004 e 2008 no Serviço de Coloproctologia de um hospital-escola na região Noroeste de São Paulo. M [...] étodos: Foram analisados 749 prontuários clínicos. Destes, 460 foram de pacientes com câncer de cólon e de 289 de pacientes com câncer retal. A maioria dos indivíduos era da raça branca, com mais de 62 anos de idade. As variáveis analisadas foram gênero, idade, cor da pele, ocupação profissional, consumo de álcool e tabagismo, história familiar de câncer e co-morbidades. A identificação do perfil clínico-sociodemográfico e dos fatores de risco em uma população com CCRE na região noroeste de São Paulo foi realizada para colaborar com as estratégias de prevenção. Resultados: A ocorrência de CCRE não diferiu muito entre gêneros. As ocupacões profissionais mais prevalentes foram as relacionadas aos afazeres domésticos, atividades agrícolas e comerciais. Entre as comorbidades, hipertensão e colelitíase foram as mais representativas. O método de diagnóstico e de tratamento mais comum para a maioria dos pacientes foi colonoscopia e cirurgia, respectivamente. Em média, o tempo de progressão da doença foi de oito meses. O número mediano de linfonodos extirpados variou entre 11 e 14. A metástase mais comum foi a hepática. Conclusão: A ocorrência de câncer colorretal é mais frequente em homens de pele branca com idade superior a 62 anos. A ocupação profissional parece ser mais importante para as pessoas expostas a agentes cancerígenos. Este tipo de tumor afeta principalmente as regiões distais do cólon e do reto, com a ocorrência de metástases no fígado. Geralmente, os indivíduos afetados exibem baixa sobrevida, devido à alta agressividade dessa neoplasia. Abstract in english Background: This study aims to perform a survey on clinical data, sociodemographic and risk factors from patients with sporadic colorectal cancer (SCRC) treated between 2004 and 2008 in the Coloproctology Service of a teaching hospital in the North-western region of São Paulo. Methods: We analyze [...] d 749 medical records. Of these, 460 were from colon cancer patients and 289 from rectal cancer patients. Most of the individuals had white skin and were aged over 62 years. The variables that were analyzed included gender, age, skin color, professional occupation, alcohol drinking and cigarette smoking, family history of cancer, and comorbidities. The identification of the clinical-sociodemographic profile and risk factors in a population with the SCRC the northwest region of São Paulo was performed to collaborate with prevention strategies. Results: The occurrence of SCRC did not differ much between genders. The most prevalent professional occupations were those related to household chores, agricultural and commercial activities. Among the comorbidities, hypertension and cholelithiasis were the most representative. The most common diagnosis method and treatment for the majority of patients were coloscopy and surgery, respectively. On average, the time of the disease progression was eight months. The median number of lymph nodes excised ranged between 11 and 14. The most common metastasis was hepatic. Conclusion: The occurrence of colorectal cancer is more frequent in men's white skin with aged over 62 years. Professional occupation seems to be more important for those exposed to carcinogenic agents. This type of tumor mostly affects the distal regions of the colon and rectum with the occurrence of liver metastasis. The affected individuals usually have low survival due to its high aggressiveness.

  7. Sporadic renal hemangioblastoma with CA9, PAX2 and PAX8 expression: diagnostic pitfall in the differential diagnosis from clear cell renal cell carcinoma.

    Science.gov (United States)

    Kuroda, Naoto; Agatsuma, Yoshiko; Tamura, Masato; Martinek, Petr; Hes, Ondrej; Michal, Michal

    2015-01-01

    To date, 13 cases of sporadic renal hemangioblastoma have been reported. In this article, we report such a case that might cause the diagnostic pitfall. A 37-year-old Japanese was found to have a renal mass by periodic medical check-up. He underwent radical nephrectomy. Macroscopically, the tumor was well-defined without fibrous capsule and the cut surface of the tumor exhibited light brown to gray-tan color without hemorrhage or necrosis. Microscopically, the tumor was made up of large polygonal to short spindle cells with eosinophilic cytoplasm with occasional vacuolization and abundant arborizing capillary network. Immunohistochemically, neoplastic cells showed diffuse positivity for inhibin-alpha, S-100 protein, vimentin, CA9, PAX2 and PAX8, but negativity for cytokeratin CAM5.2, alpha smooth muscle actin, Melanosome, Melan A, TFE3 and cathepsin K. In genetic analyses, this tumor showed no changes of VHL gene mutation, hypermethylation and loss of heterozygosity of chromosome 3p. Additionally, G-band karyotype and array comparative genomic hybridization studies showed a normal chromosome. In conclusion, the positivity for CA9, PAX2 and PAX8 in sporadic renal hemangioblastoma may cause the critical diagnostic pitfall in the differential diagnosis from clear cell renal cell carcinoma. Pathologists need to pay attention to systemic evaluation including macroscopic, microscopic and immunohistochemical findings. In some cases, molecular genetic study may be necessary. PMID:25973115

  8. Differential Motor Neuron Impairment and Axonal Regeneration in Sporadic and Familiar Amyotrophic Lateral Sclerosis with SOD-1 Mutations: Lessons from Neurophysiology

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    Tommaso Bocci

    2011-12-01

    Full Text Available Amyotrophic Lateral Sclerosis (ALS is a degenerative disorder of the motor system. About 10% of cases are familial and 20% of these families have point mutations in the Cu/Zn superoxide dismutase 1 (SOD-1 gene. SOD-1 catalyses the superoxide radical (O?2 into hydrogen peroxide and molecular oxygen. The clinical neurophysiology in ALS plays a fundamental role in differential diagnosis between the familial and sporadic forms and in the assessment of its severity and progression. Sixty ALS patients (34 males; 26 females were enrolled in the study and examined basally (T0 and every 4 months (T1, T2, and T3. Fifteen of these patients are SOD-1 symptomatic mutation carriers (nine males, six females. We used Macro-EMG and Motor Unit Number Estimation (MUNE in order to evaluate the neuronal loss and the re-innervation process at the onset of disease and during follow-up period. Results and Discussion: SOD-1 mutation carriers have a higher number of motor units at the moment of diagnosis when compared with the sporadic form, despite a more dramatic drop in later stages. Moreover, in familiar SOD-1 ALS there is not a specific time interval in which the axonal regeneration can balance the neuronal damage. Taken together, these results strengthen the idea of a different pathogenetic mechanism at the base of sALS and fALS.

  9. Patients with familial non-medullary thyroid cancer have an outcome similar to that of patients with sporadic papillary thyroid tumors

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    Fabián Pitoia

    2011-04-01

    Full Text Available OBJECTIVE:The purpose of this study was to determine whether familial non-medullary thyroid cancer (FNMTC is more aggressive than sporadic thyroid cancer. SUBJECTS AND METHODS: We compared the clinical behavior and outcome of 16 subjects with FNMTC from 7 unrelated kindred with those observed in 160 subjects with sporadic PTC (SPTC from our database. RESULTS: The only different baseline characteristics observed between both groups were: bilateral malignancy, 38% vs. 24%, respectively (p = 0.03, and lymph node metastasis, 56.2% vs. 39%, respectively (p = 0.01. Considering the outcome, in the FNMTC, 9 (56.2% patients were rendered free of disease, one patient died from thyroid cancer (6%, and 6/16 (37.5% had persistent disease. In the SPTC Group, 87 (54% patients were considered free of disease, 11 (7% died due to PTC, and 62 (38% had persistent disease (p = ns. CONCLUSIONS: Despite the higher incidence of lymph node metastasis in FNMTC patients this situation seemed not to alter the compared outcome.

  10. Factores de riesgo de casos esporádicos de gastroenteritis por Campylobacter en niños Risk factors for sporadic cases of Campylobacter infection in children

    Directory of Open Access Journals (Sweden)

    Marta Fajó-Pascual

    2009-08-01

    Full Text Available Objetivos: Identificar factores de riesgo en casos esporádicos de gastroenteritis por Campylobacter en niños 2 veces (ORa:4,2; IC95%:1,2-14,7, pollo >3 veces (ORa:3,6; IC95%:1,1-11,1 y toma previa de antibióticos (ORa:4,7; IC95%:1,1-19,6 se asociaron independientemente con la enfermedad. Conclusiones Se identificó la carne de pollo como factor de riesgo de campilobacteriosis, bien por consumo o por manipulación inadecuada que podría ocasionar contaminación cruzada de otros alimentos «listos para comer», como los fiambres.Objectives: To identify risk factors for sporadic cases of Campylobacter infection in children aged 2 times (ORa:4.2, 95%CI:1.2-14.7, chicken >3 times (ORa:3.6, 95%CI:1.1-11.1 in the week before symptom onset, and previous antibiotic intake (ORa:4.7, 95%CI:1.1-19.6. Conclusions: Chicken meat was a risk factor for sporadic cases of campylobacteriosis in children, whether through consumption or through cross-contamination with other «ready-to-eat» foods such as cooked deli meat.

  11. The Southern Argentina Agile MEteor Radar Orbital System (SAAMER-OS): An Initial Sporadic Meteoroid Orbital Survey in the Southern Sky

    Science.gov (United States)

    Janches, D.; Close, S.; Hormaechea, J. L.; Swarnalingam, N.; Murphy, A.; O'Connor, D.; Vandepeer, B.; Fuller, B.; Fritts, D. C.; Brunini, C.

    2015-08-01

    We present an initial survey in the southern sky of the sporadic meteoroid orbital environment obtained with the Southern Argentina Agile MEteor Radar (SAAMER) Orbital System (OS), in which over three-quarters of a million orbits of dust particles were determined from 2012 January through 2015 April. SAAMER-OS is located at the southernmost tip of Argentina and is currently the only operational radar with orbit determination capability providing continuous observations of the southern hemisphere. Distributions of the observed meteoroid speed, radiant, and heliocentric orbital parameters are presented, as well as those corrected by the observational biases associated with the SAAMER-OS operating parameters. The results are compared with those reported by three previous surveys performed with the Harvard Radio Meteor Project, the Advanced Meteor Orbit Radar, and the Canadian Meteor Orbit Radar, and they are in agreement with these previous studies. Weighted distributions for meteoroids above the thresholds for meteor trail electron line density, meteoroid mass, and meteoroid kinetic energy are also considered. Finally, the minimum line density and kinetic energy weighting factors are found to be very suitable for meteroid applications. The outcomes of this work show that, given SAAMER’s location, the system is ideal for providing crucial data to continuously study the South Toroidal and South Apex sporadic meteoroid apparent sources.

  12. Replication analysis of genetic variants on 17q11.2 and 9p21.2 with sporadic amyotrophic lateral sclerosis and Parkinson's disease in a Chinese population.

    Science.gov (United States)

    Chen, Xueping; Chen, Yongping; Guo, Xiaoyan; Cao, Bei; Wei, Qianqian; Ou, Ruwei; Zhao, Bi; Song, Wei; Wu, Ying; Shang, Hui-Fang

    2015-11-01

    We performed a replication study of the 2 genetic variants, rs34517613 on 17q11.2 and rs3849942 on 9p21.2 in patients with sporadic amyotrophic lateral sclerosis (ALS) and Parkinson's disease in a Chinese population. These 2 variants are identified to be associated with increased risk of ALS in European-descended populations by genome-wide association studies. Both rs34517613 and rs3849942 showed no evidence of association in Chinese. These loci are not risk factors for sporadic ALS and Parkinson's disease in the western Han Chinese population. PMID:26304631

  13. Sporadic Nucleation and Growth in the Microphase Separation Process of an I2S Miktoarm Star Block Copolymer and its Blends with Homopolymer

    Science.gov (United States)

    Yang, Lizhang; Pochan, Darrin J.; Gido, Samuel P.; Pispas, Stergios; Hong, Kunlun; Mays, Jimmy W.

    2000-03-01

    A selective solvent and annealing study was done to investigate the morphology behavior of an I2S miktoarm star block copolymer and its blends with homopolyisoprene. Casting from cyclohexane, a selective solvent for polyisoprene, the neat star shaped I2S block copolymer only partially microphase separated, and formed a unique layered morphology inside a homogeneous media. During annealing, the layered phase and the homogeneous phase both transformed into a randomly oriented worm morphology. The path of this transformation is different depending on whether the starting state is layered or homogenous. The I2S/homopolyisoprene blend formed a mostly homogeneous phase after casting from cyclohexane. Annealing produced slow microphase separation which was observed at various stages by TEM. Based on these observations, a sporadic nucleation process of microphase separation is proposed.

  14. Rydberg Matter clusters of alkali metal atoms: the link between meteoritic matter, polar mesosphere summer echoes (PMSE), sporadic sodium layers, polar mesospheric clouds (PMCs, NLCs), and ion chemistry

    CERN Document Server

    Olofson, Frans; Holmlid, Leif

    2010-01-01

    A material exists which links together the influx of meteoritic matter from interplanetary space, the polar mesosphere summer echoes (PMSE), the sporadic sodium layers, the polar mesospheric clouds (PMCs, NLCs), and the observed ion chemistry in the mesosphere. The evidence in these research fields is here analyzed and found to agree well with the properties of Rydberg Matter (RM). This material has been studied with numerous methods in the laboratory. Alkali atoms, mainly Na, reach the mesosphere in the form of interplanetary (meteoritic, cometary) dust. The planar RM clusters NaN usually contain N = 19, 37 or 61 atoms, and have the density of air at 90 km altitude where they float. The diameters of the clusters are 10-100 nm from laboratory high precision radio frequency spectroscopic studies. Such experiments show that RM clusters interact strongly with radar frequencies: this explains the radio frequency heating and reflection studies of PMSE layers. The clusters give the low temperature in the mesosphere...

  15. Screening for sporadic or familial medullary thyroid carcinoma. Scintiscan s and radio-immunotherapy; Depistage des cancers medullaires de la thyroide sporadiques et familiaux. Techniques scintigraphiques et radioimmunotherapie

    Energy Technology Data Exchange (ETDEWEB)

    Rhmer, V. [Centre Hospitalier Universitaire, Service de Medecine, 49 - Angers (France); Murat, A. [Centre Hospitalier Universitaire, Clinique d' Endocrinologie, 44 - Nantes (France)

    2000-08-01

    The screening for sporadic medullary thyroid carcinoma relies upon calcitoninemia level, basal or during pentagastrine stimulation test. MEN2 are associated with nearly the third of medullary thyroid carcinoma. In these cases, prognosis of thyroid carcinoma is mainly driven by the tumor status at the time of surgery. Up to date, diagnosis relies upon the genetic screening. Prophylactic thyroidectomy indication may take account of calcitoninemia. Most of the molecules that have been suggested for scintiscan lack of accuracy and large use cannot be recommended. Promising results have been obtained with monoclonal antibodies anti-CEA, particularly with dual targeting antiCEA antiDTPA. This last technique may also be used for radio-guided surgery. Its use for radio-immunotherapy is under investigation. (authors)

  16. Perfil da fluência: análise comparativa entre gagueira desenvolvimental persistente familial e isolada / Speech fluency profile: comparative analysis between the sporadic and familial persistent developmental stuttering

    Scientific Electronic Library Online (English)

    Cristiane Moço Canhetti de, Oliveira; Michele, Fiorin; Paula Roberta, Nogueira; Cecília Piccin, Laroza.

    2013-12-01

    Full Text Available OBJETIVO: avaliar e comparar a fluência de indivíduos com Gagueira Desenvolvimental Persistente Familial e de indivíduos com Gagueira Desenvolvimental Persistente Isolada, caracterizando a tipologia das disfluências, a porcentagem de disfluências, a taxa de elocução e a gravidade da gagueira. MÉTODO [...] : participaram 40 indivíduos, entre 6 e 42 anos de idade, divididos em dois grupos de 20 participantes cada um: Gagueira Desenvolvimental Persistente Familial e Gagueira Desenvolvimental Persistente Isolada. Os procedimentos utilizados nos grupos foram: histórias clínica e familial, avaliação da fluência e Instrumento de Gravidade da Gagueira. RESULTADOS: não houve diferenças estatisticamente significantes entre os grupos quanto à porcentagem de disfluências gagas, ao fluxo de sílabas e palavras por minuto, e a gravidade da gagueira. Nota-se uma tendência do grupo de pessoa com gagueira familial apresentar uma maior variabilidade da gravidade da gagueira, que foi de leve a muito grave, enquanto que, no grupo de pessoas com gagueira isolada, a gravidade variou de leve a grave. CONCLUSÃO: este estudo representa um primeiro esforço para a caracterização do perfil da fluência de subgrupos de pessoas que gaguejam, a saber, gagueira desenvolvimental persistente familial e gagueira desenvolvimental persistente isolada. Pode-se concluir que o perfil da fluência de pessoas com gagueira, independente do histórico familial, é semelhante. Vale ressaltar que a ocorrência de algumas tipologias gagas, repetição de palavra monossilábica, bloqueio e intrusão foram distintas entre os grupos. Abstract in english PURPOSE: to evaluate and compare the fluency between the familial and the sporadic persistent developmental stuttering, characterizing the typology and the frequency of the disfluencies, the speech rate and the severity of the stuttering. METHOD: 40 participants aged from 6 to 42 years old, divided [...] in two groups with twenty participants in each one: Familial Persistent Developmental Stuttering and Sporadic Persistent Developmental Stuttering. The procedures used were: clinical and familial history, assessment of fluency and Stuttering Severity Instrument. RESULTS: there were no statistically significant differences between the groups regarding the frequency of stuttering like disfluencies, the flow of syllables and words per minute and the severity of stuttering. It was noted a tendency of the group with familial stuttering to show a bigger variability of the severity of stuttering, going from mild to very severe, whereas in the group with sporadic stuttering, the severity varied from mild to severe. CONCLUSION: this study represents the first effort to the characterization of the speech fluency profile of the subgroups of people who stutter, namely familial persistent developmental stuttering and sporadic persistent developmental stuttering. It is possible to conclude that the speech fluency profile of people who stutter, independently of the familial history, is similar. It is noteworthy that the occurrence of some stuttering-like disfluencies, monosyllabic word repetition, block and intrusion were different between groups.

  17. LAPAROSCOPIC CRYOABLATION OF ANGIOMYOLIPOMAS IN ADOLESCENTS AND YOUNG ADULTS: A REPORT OF 4 CASES ASSOCIATED WITH TUBEROUS SCLEROSIS AND 1 CASE OF SPORADIC ORIGIN

    DEFF Research Database (Denmark)

    Trelborg, Karina; Nielsen, Tommy Kjærgaard

    PURPOSE The present study reports the first series of laparoscopic cryoablation of renal angiomyolipomas (AML) in adolescents and young adults. MATERIAL AND METHODS From October 2009 to September 2013 five patients at our institution were diagnosed with AML requiring treatment. Four patients had tuberous sclerosis (TS) and one had AML of sporadic origin, all five patients underwent laparoscopic cryoablation. Perioperative data was prospectively registered in a nation-wide laparoscopy database with follow-up data collected from the patients’ chart. Independent radiologists reassessed all imaging. RESULTS Median age was 16 (13–27) years. Eight AMLs in five patients, with a median size of 3.9 (2.1-7.7) cm were treated. Indication for intervention within the TS group was prophylactic due to tumor size and rapid growth. The patient with sporadic AML was treated due to tumor size and a former bleeding episode. From time of diagnosis until intervention the patients with TS were followed with renal imaging for a median time of 117 (1–140) months. After cryoablation AML-status was followed by CT and MRI for a median follow up time of 37 (6–59) months. On follow-up imaging, all lesions showed a reduction in tumor size, and no regrowth was recognized. The procedure was well tolerated, with few minor intraoperative complications and all patients scored zero in the Clavien-Dindo classification as no postoperative complications occurred. CONCLUSIONS Treating AMLs with laparoscopic cryoablation appears to be a safe and feasible nephron-sparing approach in adolescents and young adults, thus supporting the future use of cryoablation in this patient group. For inferior, lateral and peripherally located lesions, percutaneous cryoablation is a less invasive option, but none of our patients had lesions appropriate for this approach. Treatment with mTOR inhibitors is an alternative and promising non-invasive treatment for TS-patients with AMLs not requiring immediate surgery.

  18. Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study

    International Nuclear Information System (INIS)

    The early to intermediate stages of the majority of colorectal tumours are thought to be driven by aberrations in the Wnt (APC, CTNNB1) and Ras (K-ras) pathways. A smaller proportion of cancers shows mismatch repair deficiency. The aim of this study was to analyse the co-occurrence of these genetic alterations in relation to tumour and patient characteristics. In a group of 656 unselected sporadic colorectal cancer patients, aberrations in the APC, K-ras, CTNNB1 genes, and expression of hMLH1 were investigated. Additionally, tumours were divided in groups based on molecular features and compared with respect to patient's age at diagnosis, sex, family history of colorectal cancer, tumour sub-localisation, Dukes' stage and differentiation. Mutations at the phosphorylation sites (codons 31, 33, 37, and 45) in the CTNNB1 gene were observed in tumours from only 5/464 patients. Tumours with truncating APC mutations and activating K-ras mutations in codons 12 and 13 occurred at similar frequencies (37% (245/656) and 36% (235/656), respectively). Seventeen percent of tumours harboured both an APC and a K-ras mutation (109/656). Nine percent of all tumours (58/656) lacked hMLH1 expression. Patients harbouring a tumour with absent hMLH1 expression were older, more often women, more often had proximal colon tumours that showed poorer differentiation when compared to patients harbouring tumours with an APC and/or K-ras mutation. CTNNB1 mutations seem to be of minor importance in sporadic colorectal cancer. The main differences in tumour and patient characteristics are found between groups of patients based on mismatch repair deficiency

  19. Enhanced enteric virus detection in sporadic gastroenteritis using a multi-target real-time PCR panel: a one-year study.

    Science.gov (United States)

    Pang, Xiaoli L; Preiksaitis, Jutta K; Lee, Bonita E

    2014-09-01

    Viral gastroenteritis causes significant mortality and morbidity worldwide. Identifying the etiology of viral gastroenteritis is a challenge as most enteric viruses (EVs) are non-culturable. This study is to develop an EV testing panel using real-time PCR (EVPrtPCR) to simultaneously detect rotavirus, norovirus, sapovirus, astrovirus, and enteric adenovirus in stool samples. EVPrtPCR using universal amplification conditions was run in a single instrument run. EVPrtPCR was used to test 2,486 sporadic gastroenteritis samples submitted for EV testing using electron microscopy (EM) between July 2008 and July 2009. Retesting spiked negative stool samples and Salmon DNA as internal control were used to evaluate inhibition. EVPrtPCR detected viruses in significantly more samples: 748 (34%) as compared to 94 (3.8%) by EM. EM did not detect any norovirus, sapovirus, and mixed infection, and detected only 39% of rotavirus and 38.2% of enteric adenovirus positive samples. Four samples that tested positive for rotavirus and two for adenovirus and for small-round-structured viruses by EM were negative by EVPrtPCR. Norovirus was the most common virus detected (17.6%) with 92.4% as genogroup II, followed by rotavirus (6.8%), sapovirus (4.2%), astrovirus (2.0%), and enteric adenovirus (1.4%) with 9% samples positive for mixed infection. Overall, EV identification followed a U-shaped age distribution; positive samples were more common in children ?5 years old and adults >60 years old. Norovirus, sapovirus and astrovirus showed winter predominance and rotavirus peaked in the spring. No inhibition was observed. Molecular technology significantly enhanced the identification of EV causing sporadic gastroenteritis in Alberta. PMID:24242161

  20. Sporadic salmonellosis in Lower Saxony, Germany, 2011-2013: raw ground pork consumption is associated with Salmonella Typhimurium infections and foreign travel with Salmonella Enteritidis infections.

    Science.gov (United States)

    Rettenbacher-Riefler, S; Ziehm, D; Kreienbrock, L; Campe, A; Pulz, M; Dreesman, J

    2015-10-01

    To investigate risk factors for sporadic salmonellosis, for each notified case four randomly selected population controls matched for age, sex and geographical region were interviewed via self-administered questionnaire. Conditional logistic regression analysis of 285 matched pairs revealed significant associations for raw ground pork consumption [odds ratio (OR) 6·0, 95% confidence interval (CI) 1·8-20·1], taking antacids (OR 5·8, 95% CI 1·4-24·5), eating meat outside the home (OR 5·7, 95% CI 2·2-14·6) and daily changing or cleaning of dishcloth (OR 2·1, 95% CI 1·2-3·9). Animal contact and ice cream consumption were negatively associated with salmonellosis (OR 0·5, 95% CI 0·2-1 and OR 0·3, 95% CI 0·1-0·6, respectively). S. Typhimurium infections were significantly associated with raw ground pork consumption (OR 16·7, 95% CI 1·4-194·4) and S. Enteritidis infections with having travelled abroad (OR 9·7, 95% CI 2·0-47·3). Raw egg consumption was not a risk factor, substantiating the success of recently implemented national control programmes in the poultry industry. Unexpectedly, hygienic behaviour was more frequently reported by cases, probably because they overestimated their hygiene precautions retrospectively. Although animal contact might enhance human immunocompetence, underreporting of salmonellosis by pet owners could have occurred. Eating raw pork products is the major risk factor for sporadic human S. Typhimurium infections in Lower Saxony. PMID:25626727

  1. Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study

    Directory of Open Access Journals (Sweden)

    de Bruïne Adriaan P

    2005-12-01

    Full Text Available Abstract Background The early to intermediate stages of the majority of colorectal tumours are thought to be driven by aberrations in the Wnt (APC, CTNNB1 and Ras (K-ras pathways. A smaller proportion of cancers shows mismatch repair deficiency. The aim of this study was to analyse the co-occurrence of these genetic alterations in relation to tumour and patient characteristics. Methods In a group of 656 unselected sporadic colorectal cancer patients, aberrations in the APC, K-ras, CTNNB1 genes, and expression of hMLH1 were investigated. Additionally, tumours were divided in groups based on molecular features and compared with respect to patient's age at diagnosis, sex, family history of colorectal cancer, tumour sub-localisation, Dukes' stage and differentiation. Results Mutations at the phosphorylation sites (codons 31, 33, 37, and 45 in the CTNNB1 gene were observed in tumours from only 5/464 patients. Tumours with truncating APC mutations and activating K-ras mutations in codons 12 and 13 occurred at similar frequencies (37% (245/656 and 36% (235/656, respectively. Seventeen percent of tumours harboured both an APC and a K-ras mutation (109/656. Nine percent of all tumours (58/656 lacked hMLH1 expression. Patients harbouring a tumour with absent hMLH1 expression were older, more often women, more often had proximal colon tumours that showed poorer differentiation when compared to patients harbouring tumours with an APC and/or K-ras mutation. Conclusion CTNNB1 mutations seem to be of minor importance in sporadic colorectal cancer. The main differences in tumour and patient characteristics are found between groups of patients based on mismatch repair deficiency.

  2. Occurrence of Sporadic -E layer during the Ending Phase of Solar Cycle 23rd and Rising Phase of Solar Cycle 24th over the Anomaly Crest Region Bhopal

    Science.gov (United States)

    Bhawre, Purushottam; Gwal, Ashok Kumar; Tripathi, Sharad Chandra; Mansoori, Azad Ahmad; Aslam A., M.; Khan, Parvaiz A.; Purohit, Pramod K.; Waheed, Malik Abdul; Khatarkar, Prakash

    Ionospheric anomaly crest regions are most challenging for scientific community to understand its mechanism and investigation, for this purpose we are investigating some inospheric result for this region. The study is based on the ionogram data recorded by IPS-71 Digital Ionosonde installed over anomaly crust region Bhopal (Geo.Lat.23.2° N, Geo. Long77.4° E, Dip latitude18.4°) over a four year period from January 2007 to December 2010, covering the ending phase of 23rd Solar Cycle and starting phase of 24th solar cycle. This particular period is felt to be very suitable for examining the sunspot number and it encompasses periods of low solar activities. Quarterly ionograms are analyzed for 24 hours during these study years and have been carefully examined to note down the presence of sporadic- E. We also note down the space weather activities along with the study. The studies are divided in mainly four parts with space and geomagnetic activities during these periods. The occurrence probability of this layer is highest in summer solstice, moderate during equinox and low during winter solstice. Remarkable occurrence peaks appear from June to July in summer and from December to January in winter. The layer occurrence showed a double peak variation with distinct layer groups, in the morning (0200 LT) and the other during evening (1800 LT).The morning layer descent was associated with layer density increase indicating the strengthening of the layer while it decreased during the evening layer descent. The result indicates the presence of semi-diurnal tide over the location while the higher descent velocities could be due to the modulation of the ionization by gravity waves along with the tides. The irregularities associated with the gradient-drift instability disappear during the counter electrojet and the current flow is reversed in westward. Keyword: ionosphere, solar cycle, sporadic - E

  3. Rearrangements at the 11p15 locus and overexpression of insulin-like growth factor-II gene in sporadic adrenocortical tumors

    Energy Technology Data Exchange (ETDEWEB)

    Gicquel, C.; Schneid, H.; Le Bouc, Y. [Hopital Trousseau, Paris (France); Bertagna, X.; Francillard-Leblond, M.; Luton, J.P.; Girard, F. [Hopital Cochin, Paris (France)

    1994-06-01

    Little is known about the pathophysiology of sporadic adrenocortical tumors in adults. Because loss of heterozygosity at the 11p15 locus has been described in childhood tumors, particularly in adrenocortical tumors associated with the Beckwith-Wiedemann syndrome, and because insulin-like growth factor-II (IGF-II) is a crucial regulator of fetal adrenal growth, the authors looked for structural analysis at the 11p15 locus and IGF-II gene expression in 23 sporadic adrenocortical adult tumors: 6 carcinomas (5 with Cushing`s syndrome and 1 nonsecreting) and 17 benign adenomas (13 with Cushing`s syndrome, 1 pure androgen secreting, and 3 nonsecreting). Twenty-one patients were informative at the 11p15 locus, and six (four carcinomas and two adenomas) of them (28.5%) exhibited 11p15 structural abnormalities in tumor DNA (five, a uniparental disomy and one, a mosaicism). In a single case that could be further studied, a paternal isodisomy was observed. Very high IGF-II mRNA contents were detected in seven tumors (30%; 5 of the 6 carcinomas and 2 of the 17 adenomas). They were particularly found in tumors with uniparental disomy at the 11p15 locus. Overall, a strong correlation existed between IGF-II mRNA contents and DNA demethylation at the IGF-II locus. These data show that genetic alterations involving the 11p15 locus were highly frequent in malignant tumors, but found only in rare adenomas. These results in combination with evidence for overexpression of IGF-II from the 11p15.5 locus suggest that abnormalities in structure and/or expression of the IGF-II gene play a role as a late event of a multistep process of tumorigenesis. 58 refs., 6 figs., 4 tabs.

  4. Subtype Analysis of Cryptosporidium Specimens from Sporadic Cases in Colorado, Idaho, New Mexico, and Iowa in 2007: Widespread Occurrence of One Cryptosporidium hominis Subtype and Case History of an Infection with the Cryptosporidium Horse Genotype?

    OpenAIRE

    Xiao, Lihua; Hlavsa, Michele C.; Yoder, Jonathan; Ewers, Christina; Dearen, Theresa; Yang, Wenli; Nett, Randall; Harris, Stephanie; Brend, Sarah M; Harris, Meghan; Onischuk, Lisa; Valderrama, Amy L.; Cosgrove, Shaun; Xavier, Karen; Hall, Nancy

    2009-01-01

    Subtyping was conducted in late 2007 on 57 Cryptosporidium specimens from sporadic cases in Colorado, Idaho, New Mexico, and Iowa. One previously rare Cryptosporidium hominis subtype was indentified in 40 cases (70%) from all four states, and the Cryptosporidium horse genotype was identified in a pet shop employee with severe clinical symptoms.

  5. Enfermedad de Creutzfeldt-Jakob esporádica: estudio clínico, patológico y molecular de un caso / Sporadic Creutzfeldt-Jakob disease: Clinical, pathological and molecular study

    Scientific Electronic Library Online (English)

    Victoria Eugenia, Villegas; Fernando, Velandia; Cesar, Payán.

    2008-12-01

    Full Text Available Generalidades. Las encefalopatías espongiformes transmisibles son enfermedades neurodegenerativas ocasionadas por la acumulación anormal de una variante mal plegada de la proteína priónica, lo cual induce la formación de conglomerados proteicos resistentes a la degradación. Además, son responsables [...] de la disfunción sináptica, daño neuronal y de la sintomatología clásica acompañante. Esta proteína de membrana es codificada por el exón 2 del gen PRNP, ubicado en el brazo corto del cromosoma 20 y parece estar involucrada en la trasmisión sináptica, la transducción de señales, la actividad antioxidante de la superoxidodismutasa, neuroplasticidad y sobrevida celular. Un polimorfismo en el codón 129 se asocia con una susceptibilidad diferencial a la enfermedad Creutzfeldt-Jakob esporádica. Objetivo. Estudio clínico, patológico y molecular de un caso de una mujer de 58 años con diagnóstico de enfermedad de Creutzfeldt- Jakob esporádica. Métodos y resultados. Se presenta el caso de una mujer en quien aparece un trastorno depresivo del afecto con demencia progresiva y sintomatología general. Al final de la enfermedad, el cuadro progresó a un déficit neurológico focalizado en el área visual. La RMN mostró hiperintensidades inespecíficas córtico-subcorticales en el núcleo estriado; en el EEG se encontró pérdida de ritmos de fondo, patrón de descargas periódicas generalizadas y complejos trifásicos; en la biopsia cerebral postmorten se evidenció pérdida severa de la población neuronal en todas las capas, vacuolas en el neuropil, en el soma neuronal y en la glía. El análisis de secuencia del gen PRNP, a partir de extracción de DNA de sangre periférica, identificó homocigosis para metionina en el codón 129. La paciente fallece a los 3 meses del inicio de la sintomatología. Conclusión. Por epidemiología, curso clínico y exámenes paraclínicos se confirma el diagnóstico de enfermedad de Creutzfeldt- Jakob esporádica. La determinación del genotipo para los polimorfismos de riesgo se convierte en una herramienta útil para complementar por medios moleculares el diagnóstico y para profundizar la comprensión de la fisiopatología de la enfermedad de Creutzfeldt-Jakob, tanto para formas esporádicas como para la nueva variante. Abstract in english Background: Transmissible spongiform encephalopathies are neurodegenerative diseases caused by abnormal accumulation of pathogenic isoform the prion protein, which induces the formation of conglomerates protein resistant to degradation. They are also responsible for synaptic dysfunction, neuronal da [...] mage and the classic symptoms of disease. This membrane protein is encoded by exon 2 of the gene PRNP, located on the short arm of chromosome 20 and appears to be involved in synaptic transmission, signal transduction, the antioxidant activity of the superoxid dismutasa, neuroplasticity and cell survival. One polymorphism at codon 129 is associated with differential susceptibility to disease sporadic Creutzfeldt-Jakob disease. Aim: Clinical, pathological and molecular report on an 58 year-old woman with pathological diagnosis of Creutzfeldt-Jakob sporadic disease. Methods and results. The clinic course appears with a behavior depressive disorder with progressive dementia and symptoms. At the end of the disease, the scenario progressed to a neurological deficit focused on the visual area. The MRI showed nonspecific hyperintensity in cortiço-subcortical nucleus in the striatum, the EEG showed patterns of recurrent generalized discharges and complex three-phase, the brain biopsy post-morten showed severe loss of the neuronal population in all the layers, vacuoles in the neuropil, in the neuronal soma and the glial. The analysis of sequence of the gene PRNP identified homozygotes for methionine at codon 129. The patient died at 3 months of the onset of symptoms. Conclusions: Epidemiology, clinical course and paraclinical examinations confirmed the diagnosis of Creutzfeldt-Jakob sporadic. The genotyping for polymorph

  6. Nearby Supernova Factory Observations of SN 2006D: On SporadicCarbon Signatures in Early Type Ia Supernova Spectra

    Energy Technology Data Exchange (ETDEWEB)

    Thomas, R.C.; Aldering, G.; Antilogus, P.; Aragon, C.; Bailey,S.; Baltay, C.; Baron, E.; Bauer, A.; Buton, C.; Bongard, S.; Copin, Y.; Gangler, E.; Gilles, S.; Kessler, R.; Loken, S.; Nugent, P.; Pain, R.; Parrent, J.; Pecontal, E.; Pereira, R.; Perlmutter, S.; Rabinowitz, D.; Rigaudier, G.; Runge, K.; Scalzo, R.; Smadja, G.; Wang, L.; Weaver, B.A.

    2006-10-12

    We present four spectra of the Type Ia supernova SN Ia 2006Dextending from -7 to +13 days with respect to B-band maximum. The spectrainclude the strongest signature of unburned material at photosphericvelocities observed in a SN Ia to date. The earliest spectrum exhibits CII absorption features below 14,000 km/s, including a distinctive C IIlambda 6580 absorption feature. The carbon signatures dissipate as the SNapproaches peak brightness. In addition to discussing implications ofphotospheric-velocity carbon for white dwarf explosion models, we outlinesome factors that may influence the frequency of its detection before andaround peak brightness. Two effects are explored in this regard,including depopulation of the C II optical levels by non-LTE effects, andline-of-sight effects resulting from a clumpy distribution of unburnedmaterial with low volume-filling factor.

  7. Factores de riesgo de casos esporádicos de gastroenteritis por Campylobacter en niños / Risk factors for sporadic cases of Campylobacter infection in children

    Scientific Electronic Library Online (English)

    Marta, Fajó-Pascual; Pere, Godoy García; Jesús, Aramburu Arnuelos; Antoni, Nogués Biau.

    2009-08-01

    Full Text Available Objetivos: Identificar factores de riesgo en casos esporádicos de gastroenteritis por Campylobacter en niños [...] obacter. Se recogió información telefónicamente mediante cuestionario estructurado sobre predisposición individual, exposiciones alimentarias y no alimentarias. Mediante multivariado de regresión logística condicional se estimó la odds ratio ajustada (ORa) y el intervalo de confianza del 95% (IC95%). Resultados: Se incluyeron 45 casos y 45 controles. La edad mediana de los casos fue de 1,6 años. El consumo de fiambre >2 veces (ORa:4,2; IC95%:1,2-14,7), pollo >3 veces (ORa:3,6; IC95%:1,1-11,1) y toma previa de antibióticos (ORa:4,7; IC95%:1,1-19,6) se asociaron independientemente con la enfermedad. Conclusiones Se identificó la carne de pollo como factor de riesgo de campilobacteriosis, bien por consumo o por manipulación inadecuada que podría ocasionar contaminación cruzada de otros alimentos «listos para comer», como los fiambres. Abstract in english Objectives: To identify risk factors for sporadic cases of Campylobacter infection in children aged [...] cter. Information was gathered by telephone using a structured questionnaire on individual susceptibility and food and non-food exposures. A multivariate conditional logistic regression model was used to estimate adjusted odds ratios (ORa) and their 95% confidence intervals (95%CI). Results: Forty-five cases and 45 controls were included in the analysis. The median age of cases was 1.6 years. Factors independently associated with disease were consumption of cooked deli meat >2 times (ORa:4.2, 95%CI:1.2-14.7), chicken >3 times (ORa:3.6, 95%CI:1.1-11.1) in the week before symptom onset, and previous antibiotic intake (ORa:4.7, 95%CI:1.1-19.6). Conclusions: Chicken meat was a risk factor for sporadic cases of campylobacteriosis in children, whether through consumption or through cross-contamination with other «ready-to-eat» foods such as cooked deli meat.

  8. Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

    Science.gov (United States)

    Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E.; Dharmadhikari, Avinash V.; Mostafa, Hasnaa; Kozakewich, Harry; Kearney, Debra; Cahill, John B.; Whitt, Merrissa; Bilic, Masha; Margraf, Linda; Charles, Adrian; Goldblatt, Jack; Gibson, Kathleen; Lantz, Patrick; Garvin, Julian; Petty, John; Kiblawi, Zeina; Zuppan, Craig; McConkie-Rosell, Allyn; McDonald, Marie T.; Peterson-Carmichael, Stacey L.; Gaede, Jane T.; Shivanna, Binoy; Schady, Deborah; Friedlich, Philippe S.; Hays, Stephen R.; Palafoll, Irene Valenzuela; Siebers-Renelt, Ulrike; Bohring, Axel; Finn, Laura S.; Siebert, Joseph R.; Galambos, Csaba; Nguyen, Lananh; Riley, Melissa; Chassaing, Nicolas; Vigouroux, Adeline; Rocha, Gustavo; Fernandes, Susana; Brumbaugh, Jane; Roberts, Kari; Ho-ming, Luk; Lo, Ivan; Lam, Stephen; Gerychova, Romana; Jezova, Marta; Valaskova, Iveta; Fellmann, Florence; Afshar, Katayoun; Giannoni, Eric; Muhlethaler, Vincent; Liang, Jinlong; Beckmann, Jacques S.; Lioy, Janet; Deshmukh, Hitesh; Srinivasan, Lakshmi; Swarr, Daniel T.; Sloman, Melissa; Shaw-Smith, Charles; van Loon, Rosa Laura; Hagman, Cecilia; Sznajer, Yves; Barrea, Catherine; Galant, Christine; Detaille, Thierry; Wambach, Jennifer A.; Cole, F. Sessions; Hamvas, Aaron; Prince, Lawrence S.; Diderich, Karin E.M.; Brooks, Alice S.; Verdijk, Rob M.; Ravindranathan, Hari; Sugo, Ella; Mowat, David; Baker, Michael L.; Langston, Claire; Welty, Stephen; Stankiewicz, Pawel

    2013-01-01

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Non-pulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and ten deletions, we have identified an additional thirty eight novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, twenty missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic whereas four familial cases with three showing maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA binding domain, indicating its plausible role in gene regulation. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis. PMID:23505205

  9. Tissue classification for the epidemiological assessment of surgical transmission of sporadic Creutzfeldt-Jakob disease. A proposal on hypothetical risk levels

    Directory of Open Access Journals (Sweden)

    Calero Miguel

    2005-01-01

    Full Text Available Abstract Background Epidemiological studies on the potential role of surgery in Creutzfeldt-Jakob Disease transmission have disclosed associations with history of specific surgical interventions or reported negative results. Methods Within the context of a case-control study designed to address surgical risk of sporadic Creutzfeldt-Jakob Disease in Nordic European countries (EUROSURGYCJD Project, a strategy was adopted to categorise reported surgical procedures in terms of potential risk of Creutzfeldt-Jakob Disease acquisition. We took into account elements of biological plausibility, either clinically or experimentally demonstrated, such as tissue infectivity, PrP expression content or successful route of infection. Results We propose a classification of exposed tissues and anatomic structures, drawn up on the basis of their specific putative role as entry site for prion transmission through contact with surgical instruments that are not fully decontaminated. Conclusions This classification can serve as a reference, both in our study and in further epidemiological research, for categorisation of surgical procedures in terms of risk level of Creutzfeldt-Jakob Disease acquisition.

  10. No evidence that associations of incident, sporadic colorectal adenoma with its major modifiable risk factors differ by chromosome 8q24 region rs6983267 genotype.

    Science.gov (United States)

    Yang, Baiyu; Thyagarajan, Bharat; Gross, Myron D; Fedirko, Veronika; Goodman, Michael; Bostick, Roberd M

    2014-02-01

    A single nucleotide polymorphism (SNP), rs6983267, in the chromosome 8q24 region, has been associated with higher risk for colorectal neoplasms, but its relation to carcinogenic mechanisms is unclear. To investigate whether associations of colorectal adenoma with its major modifiable risk factors differ according to rs6983267 genotype, we performed a pooled analysis of the White participants (n = 401 cases, 518 controls) from three colonoscopy-based, case-control studies of incident, sporadic colorectal adenoma conducted between 1991 and 2002. There was a statistically significant direct association of rs6983267 with colorectal adenoma that was consistent with those in previous reports. We found no clear indications that rs6983267 impacts the association of colorectal adenomas with the following risk factors: physical activity, body mass index (BMI), nonsteroidal anti-inflammatory drug (NSAID) use, tobacco or alcohol use, hormone replacement therapy among women, blood 25-OH-vitamin D3 levels, oxidative balance, or total energy, calcium, red meat, vegetable and fruit, and folate intakes. These findings, together with previously reported null results on 8q24-environment interactions for colorectal cancer, suggest that associations of colorectal adenoma with its major modifiable risk factors may not differ according to chromosome 8q24 region rs6983267 genotype. PMID:24115145

  11. Cervical dystonia: about familial and sporadic cases in 88 patients / Distonia cervical: considerações sobre casos esporádicos e familiares em 88 pacientes

    Scientific Electronic Library Online (English)

    Carlos Henrique F., Camargo; Sarah Teixeira, Camargos; Nilson, Becker; Renato Puppi, Munhoz; Salmo, Raskin; Francisco Eduardo C., Cardoso; Hélio Afonso G., Teive.

    2014-02-01

    Full Text Available A distonia cervical (CD) afeta a musculatura do pescoço de modo focal ou em combinação com outras partes do corpo. O objetivo deste estudo foi identificar diferenças clínicas entre pacientes com distonia com história familiar e pacientes sem história familiar (esporádicos). Foram selecionados 88 pac [...] ientes com DC no Setor de Distúrbios do Movimento entre julho de 2008 e junho de 2009. Somente os pacientes sem diagnóstico etiológico foram admitidos para análise. A idade de início dos sintomas foi mais tardia em pacientes com distonia focal e segmentar do que em pacientes com distonia generalizada (p Abstract in english Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight patients with [...] CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p

  12. PTH(1-34) Replacement Therapy in a Child With Hypoparathyroidism Caused by a Sporadic Calcium Receptor Mutation

    OpenAIRE

    Theman, Todd A; Collins, Michael T.; Dempster, David W.; Zhou, Hua; Reynolds, James C.; Brahim, Jaime S; Roschger, Paul; Klaushofer, Klaus; Winer, Karen K.

    2008-01-01

    Autosomal dominant hypocalcemia (ADH) is an inherited form of hypoparathyroidism caused by activating mutations in the calcium-sensing receptor (CaR). Treatment with PTH(1-34) may be superior to conventional therapy but is contraindicated in children, and long-term effects on the skeleton are unknown. The patient is a 20-yr-old female with ADH treated with PTH continuously since 6 yr and 2 mo of age. A bone biopsy was obtained for histomorphometry and quantitative backscattered electron imagi...

  13. Genomic instability at the 13q31 locus and somatic mtDNA mutation in the D-loop site correlate with tumor aggressiveness in sporadic Brazilian breast cancer cases

    OpenAIRE

    Gilson Costa dos Santos-Jr; Andréa Carla de Souza Góoes; Humberto de Vitto; Carla Cristina Moreira; Elizabeth Avvad; Franklin David Rumjanek; Claudia Vitoria de Moura Gallo

    2012-01-01

    OBJECTIVE: Genomic instability is a hallmark of malignant tissues. In this work, we aimed to characterize nuclear and mitochondrial instabilities by determining short tandem repeats and somatic mitochondrial mutations, respectively, in a cohort of Brazilian sporadic breast cancer cases. Furthermore, we performed an association analysis of the molecular findings and the clinical pathological data. METHODS: We analyzed 64 matched pairs of breast cancer and adjacent non-cancerous breast samples ...

  14. Morphological abnormalities in mitochondria of the skin of patients with sporadic amyotrophic lateral sclerosis Alteraciones morfológicas en las mitocondrias en la piel de enfermos con esclerosis lateral amiotrófica esporádica

    OpenAIRE

    Gabriel E. Rodríguez; Deniselle M. Claudia González; Gisella M. Gargiulo Monachelli; Juan J. López Costa; Alejandro F. de Nicola; Roberto E. P. Sica

    2012-01-01

    OBJECTIVES: Mitochondrial dysfunction has been reported in the central nervous system, hepatocytes and peripheral blood lymphocytes from patients with sporadic amyotrophic lateral sclerosis (SALS). However, the status of skin mitochondria has not been reported, in spite of the fact that SALS patients present skin abnormalities. The objective of the present study was to compare mitochondrial ultrastructural parameters in keratinocytes from patients with SALS and healthy controls. METHODS: Our ...

  15. PTH(1-34) replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation.

    Science.gov (United States)

    Theman, Todd A; Collins, Michael T; Dempster, David W; Zhou, Hua; Reynolds, James C; Brahim, Jaime S; Roschger, Paul; Klaushofer, Klaus; Winer, Karen K

    2009-05-01

    Autosomal dominant hypocalcemia (ADH) is an inherited form of hypoparathyroidism caused by activating mutations in the calcium-sensing receptor (CaR). Treatment with PTH(1-34) may be superior to conventional therapy but is contraindicated in children, and long-term effects on the skeleton are unknown. The patient is a 20-yr-old female with ADH treated with PTH continuously since 6 yr and 2 mo of age. A bone biopsy was obtained for histomorphometry and quantitative backscattered electron imaging (qBEI). Her data were compared with one age-, sex-, and length of hypoparathyroidism-matched control not on PTH and two sex-matched ADH controls before and after 1 yr of PTH. The patient's growth was normal. Hypercalciuria and hypermagnesuria persisted despite normal or subnormal serum calcium and magnesium levels. Nephrocalcinosis, without evidence of impaired renal function, developed by 19 yr of age. Cancellous bone volume was dramatically elevated in the patient and in ADH controls after 1 yr of PTH. BMD distribution (BMDD) by qBEI of the patient and ADH controls was strikingly shifted toward lower mineralization compared with the non-ADH control. Moreover, the ADH controls exhibited a further reduction in mineralization after 1 yr of PTH. These findings imply a role for CaR in bone matrix mineralization. There were no fractures or osteosarcoma. In conclusion, long-term PTH replacement in a child with ADH was not unsafe, increased bone mass without negatively impacting mineralization, and improved serum mineral control but did not prevent nephrocalcinosis. Additionally, this may be the first evidence of a role for CaR in human bone. PMID:19063686

  16. Morphological abnormalities in mitochondria of the skin of patients with sporadic amyotrophic lateral sclerosis / Alteraciones morfológicas en las mitocondrias en la piel de enfermos con esclerosis lateral amiotrófica esporádica

    Scientific Electronic Library Online (English)

    Gabriel E., Rodríguez; Deniselle M. Claudia, González; Gisella M. Gargiulo, Monachelli; Juan J. López, Costa; Alejandro F. de, Nicola; Roberto E. P., Sica.

    2012-01-01

    Full Text Available OBJETIVOS: Existen alteraciones en la función mitocondrial en el sistema nervioso central, en hepatocitos y en linfocitos de sangre periférica en SALS. Aunque, no se ha estudiado si existen cambios estructurales en las mitocondrias de la piel. Nuestro objetivo fue comparar la ultraestructura de mito [...] condrias en queratinocitos de enfermos con SALS con la de controles sanos. MÉTODO: Fueron analizadas en el microscopio electrónico 112 mitocondrias dérmicas de 5 pacientes y 99 provenientes de 4 controles. RESULTADOS: EL análisis computarizado mostró que el eje mayor mitocondrial, el área y el perímetro de las organelas fueran significativamente menor que en controles. Morfológicamente, las mitocondrias de SALS presentaron cristólisis y ruptura de la membrana externa. CONCLUSIÓN: La alteración mitocondrial en la piel posiblemente refleje cambios que también ocurran en las mitocondrias neuronales. Este análisis morfológico de las mitocondrias podría tener valor en el seguimiento de la enfermedad y eventualmente en la evaluación de la efectividad de futuras terapias. Abstract in english OBJECTIVES: Mitochondrial dysfunction has been reported in the central nervous system, hepatocytes and peripheral blood lymphocytes from patients with sporadic amyotrophic lateral sclerosis (SALS). However, the status of skin mitochondria has not been reported, in spite of the fact that SALS patient [...] s present skin abnormalities. The objective of the present study was to compare mitochondrial ultrastructural parameters in keratinocytes from patients with SALS and healthy controls. METHODS: Our study was based on the analysis of 112 skin mitochondria from 5 SALS patients and 99 organelles from 4 control subjects by electron microscopy. RESULTS: Computerized image analysis showed that mitochondrial major axis length, area and perimeter of the organelle were significantly smaller in SALS respect of healthy control subjects. Morphologically, SALS mitochondria presented cristolysis and breakage of the outer membrane. CONCLUSIONS: Mitochondrial dysfunction in the skin may possibly reflect changes occurring in mitochondria of the central nervous system. The analysis of mitochondrial morphology in this tissue may be of value to follow disease progression and, eventually, the effectiveness of current therapies for SALS.

  17. PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets.

    Science.gov (United States)

    Mumm, Steven; Huskey, Margaret; Cajic, Adela; Wollberg, Valerie; Zhang, Fan; Madson, Katherine L; Wenkert, Deborah; McAlister, William H; Gottesman, Gary S; Whyte, Michael P

    2015-01-01

    Heritable forms of hypophosphatemic rickets (HR) include X-linked dominant (XLH), autosomal recessive, and autosomal dominant HR (from deactivating mutations in PHEX, DMP1 or ENPP1, and activating mutations in FGF23, respectively). Over 30 years, we have cared for 284 children with HR. For those 72 deemed sporadic XLH, we preliminarily reported mutation analysis for 30 subjects. Eleven had PHEX mutations. However, the remaining 19 lacked readily identifiable defects in PHEX, DMP1, or FGF23. In 2008, a novel single-base change near the polyadenylation (pA) signal in the 3'-UTR of PHEX was identified in XLH by other investigators. This c.*231A?>?G mutation is 3-bp upstream of the putative pA signal (AATAAA) in PHEX. Accordingly, we investigated whether this 3'-UTR defect accounted for HR in any of these 19 sporadic XLH patients. PCR amplification and sequencing of their 3'-UTR region showed the c.*231A?>?G mutation in four unrelated boys. Then, among an additional 22 of our 72 "sporadic" XLH patients, one boy and one girl were found to have the 3'-UTR defect, totaling six patients. Among these 52 sporadic XLH patients with PHEX analysis, 36 were girls and 16 were boys; ie, a ?2:1 gender ratio consistent with XLH. However, finding five boys and only one girl with this 3'-UTR mutation presented an unexplained gender bias (p?=?0.02). Haplotyping for the five boys, all reportedly unrelated, showed a common core haplotype suggesting a founder. Five of their six mothers had been studied clinically and biochemically (three radiologically). Remarkably, the seemingly unaffected mothers of four of these boys carried the 3'-UTR mutation. These healthy women had normal height, straight limbs, lacked the radiographic presentation of XLH, and showed normal or slight decreases in fasting serum Pi levels and/or TmP/GFR. Hence, PHEX c.*231A?>?G can masquerade as sporadic or X-linked recessive HR. PMID:25042154

  18. Dynamics of HEV viremia, fecal shedding and its relationship with transaminases and antibody response in patients with sporadic acute hepatitis E

    Directory of Open Access Journals (Sweden)

    Chandra Nidhi S

    2010-09-01

    Full Text Available Abstract Background There is paucity of data regarding duration of fecal excretion and viremia on sequential samples from individual patients and its correlation with serum transaminases and antibody responses in patients with acute hepatitis E. This prospective study was undertaken at a tertiary care center in Northern India over 15 months. Only those patients of sporadic acute hepatitis E who were in their first week of illness and followed up weekly for liver function tests, IgM anti HEV antibody and HEV RNA in sera and stool were included. HEV RNA was done by RT - nPCR using two pairs of primers from RdRp region of ORF 1 of the HEV genome. Results Over a period of 15 months 60 patients met the inclusion criterion and were enrolled for the final analysis. The mean age of the patients was 29.2 ± 8.92 years, there were 39 males. The positivity of IgM anti HEV was 80% at diagnosis and 18.3% at 7th week, HEV RNA 85% at diagnosis and 6.6% at 7th week and fecal RNA 70% at the time of diagnosis and 20% at 4th week. The maximum duration of viremia detected was 42 days and fecal viral shedding was 28 days after the onset of illness. Conclusion Present study reported HEV RNA positivity in sera after normalization of transaminases. Fecal shedding was not seen beyond normalization of transaminases. However, viremia lasted beyond normalization of transaminases suggesting that liver injury is independent of viral replication.

  19. Multiple ?-secretase product peptides are coordinately increased in concentration in the cerebrospinal fluid of a subpopulation of sporadic Alzheimer’s disease subjects

    Directory of Open Access Journals (Sweden)

    Hata Saori

    2012-04-01

    Full Text Available Abstract Background Alcadein? (Alc? is a neuronal membrane protein that colocalizes with the Alzheimer's amyloid-? precursor protein (APP. Successive cleavage of APP by ?- and ?-secretases generates the aggregatable amyloid-? peptide (A?, while cleavage of APP or Alc? by ?- and ?-secretases generates non-aggregatable p3 or p3-Alc? peptides. A? and p3-Alc? can be recovered from human cerebrospinal fluid (CSF. We have previously reported alternative processing of APP and Alc? in the CSF of some patients with sporadic mild cognitive impairment (MCI and AD (SAD. Results Using the sandwich enzyme-linked immunosorbent assay (ELISA system that detects total p3-Alc?, we determined levels of total p3-Alc? in CSF from subjects in one of four diagnostic categories (elderly controls, MCI, SAD, or other neurological disease derived from three independent cohorts. Levels of A?40 correlated with levels of total p3-Alc? in all cohorts. Conclusions We confirm that A?40 is the most abundant A? species, and we propose a model in which CSF p3-Alc? can serve as a either (1 a nonaggregatable surrogate marker for ?-secretase activity; (2 as a marker for clearance of transmembrane domain peptides derived from integral protein catabolism; or (3 both. We propose the specification of an MCI/SAD endophenotype characterized by co-elevation of levels of both CSF p3-Alc? and A?40, and we propose that subjects in this category might be especially responsive to therapeutics aimed at modulation of ?-secretase function and/or transmembrane domain peptide clearance. These peptides may also be used to monitor the efficacy of therapeutics that target these steps in A? metabolism

  20. Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer.

    Science.gov (United States)

    Forsberg, Lars A; Rasi, Chiara; Pekar, Gyula; Davies, Hanna; Piotrowski, Arkadiusz; Absher, Devin; Razzaghian, Hamid Reza; Ambicka, Aleksandra; Halaszka, Krzysztof; Przewo?nik, Marcin; Kruczak, Anna; Mandava, Geeta; Pasupulati, Saichand; Hacker, Julia; Prakash, K Reddy; Dasari, Ravi Chandra; Lau, Joey; Penagos-Tafurt, Nelly; Olofsson, Helena M; Hallberg, Gunilla; Skotnicki, Piotr; Mitu?, Jerzy; Skokowski, Jaroslaw; Jankowski, Michal; ?rutek, Ewa; Zegarski, Wojciech; Tiensuu Janson, Eva; Ry?, Janusz; Tot, Tibor; Dumanski, Jan P

    2015-10-01

    Sporadic breast cancer (SBC) is a common disease without robust means of early risk prediction in the population. We studied 282 females with SBC, focusing on copy number aberrations in cancer-free breast tissue (uninvolved margin, UM) outside the primary tumor (PT). In total, 1162 UMs (1-14 per breast) were studied. Comparative analysis between UM(s), PT(s), and blood/skin from the same patient as a control is the core of the study design. We identified 108 patients with at least one aberrant UM, representing 38.3% of cases. Gains in gene copy number were the principal type of mutations in microscopically normal breast cells, suggesting that oncogenic activation of genes via increased gene copy number is a predominant mechanism for initiation of SBC pathogenesis. The gain of ERBB2, with overexpression of HER2 protein, was the most common aberration in normal cells. Five additional growth factor receptor genes (EGFR, FGFR1, IGF1R, LIFR, and NGFR) also showed recurrent gains, and these were occasionally present in combination with the gain of ERBB2. All the aberrations found in the normal breast cells were previously described in cancer literature, suggesting their causative, driving role in pathogenesis of SBC. We demonstrate that analysis of normal cells from cancer patients leads to identification of signatures that may increase risk of SBC and our results could influence the choice of surgical intervention to remove all predisposing cells. Early detection of copy number gains suggesting a predisposition toward cancer development, long before detectable tumors are formed, is a key to the anticipated shift into a preventive paradigm of personalized medicine for breast cancer. PMID:26430163

  1. Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy.

    Science.gov (United States)

    Nogalska, Anna; D'Agostino, Carla; Engel, W King; Cacciottolo, Mafalda; Asada, Shinichi; Mori, Kazutoshi; Askanas, Valerie

    2015-06-01

    Muscle fibers in patients with sporadic inclusion-body myositis (s-IBM),the most common age-associated myopathy, are characterized by autophagic vacuoles and accumulation of ubiquitinated and congophilic multiprotein aggregates that contain amyloid-? and phosphorylated tau. Muscle fibers of autosomal-recessive hereditary inclusion-body myopathy caused by the GNE mutation (GNE-h-IBM) display similar pathologic features, except with less pronounced congophilia. Accumulation of unfolded/misfolded proteins inside the endoplasmic reticulum (ER) lumen leads to ER stress, which elicits the unfolded protein response (UPR) as a protective mechanism. Here we demonstrate for the first time that UPR is activated in s-IBM muscle biopsies, since there was 1) increased activating transcription factor 4 (ATF4) protein and increased mRNA of its target C/EBP homologous protein; 2) cleavage of the ATF6 and increased mRNA of its target glucose-regulated protein 78; and 3) an increase of the spliced form of X-box binding protein 1 and increased mRNA of ER degradation-enhancing ?-mannosidase-like protein, target of heterodimer of cleaved ATF6 and spliced X-box binding protein 1. In contrast, we did not find similar evidence of the UPR induction in GNE-h-IBM patient muscle, suggesting that different intracellular mechanisms might lead to similar pathologic phenotypes. Interestingly, cultured GNE-h-IBM muscle fibers had a robust UPR response to experimental ER stress stimuli, suggesting that the GNE mutation per se is not responsible for the lack of UPR in GNE-h-IBM biopsied muscle. PMID:25978849

  2. Refinements in the use of equivalent latitude for assimilating sporadic inhomogeneous stratospheric tracer observations, 1: Detecting transport of Pinatubo aerosol across a strong vortex edge

    Directory of Open Access Journals (Sweden)

    P. Good

    2004-01-01

    Full Text Available The use of PV equivalent latitude for assimilating stratospheric tracer observations is discussed - with particular regard to the errors in the equivalent latitude coordinate, and to the assimilation of sparse data. Some example measurements are assimilated: they sample the stratosphere sporadically and inhomogeneously. The aim was to obtain precise information about the isentropic tracer distribution and evolution as a function of equivalent latitude. Precision is important, if transport across barriers like the vortex edge are to be detected directly. The main challenges addressed are the errors in modelled equivalent latitude, and the non-ideal observational sampling. The methods presented allow first some assessment of equivalent latitude errors and a picture of how good or poor the observational coverage is. This information determines choices in the approach for estimating as precisely as possible the true equivalent latitude distribution of the tracer, in periods of good and poor observational coverage. This is in practice an optimisation process, since better understanding of the equivalent latitude distribution of the tracer feeds back into a clearer picture of the errors in the modelled equivalent latitude coordinate. Error estimates constrain the reliability of using equivalent latitude to make statements like 'this observation samples air poleward of the vortex edge' or that of more general model-measurement comparisons. The approach is demonstrated for ground-based lidar soundings of the Mount Pinatubo aerosol cloud, focusing on the 1991-92 arctic vortex edge between 475-520K. Equivalent latitude is estimated at the observation times and locations from Eulerian model tracers initialised with PV and forced by UK Meteorological Office analyses. With the model formulation chosen, it is shown that tracer transport of a few days resulted in an error distribution that was much closer to Gaussian form, although the mean error was not significantly affected. The analysis of the observations revealed a small amount of irreversible transport of aerosol across the vortex edge during late January 1992, coincident with a strongly disturbed vortex.

  3. Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer

    Science.gov (United States)

    Forsberg, Lars A.; Rasi, Chiara; Pekar, Gyula; Davies, Hanna; Piotrowski, Arkadiusz; Absher, Devin; Razzaghian, Hamid Reza; Ambicka, Aleksandra; Halaszka, Krzysztof; Przewo?nik, Marcin; Kruczak, Anna; Mandava, Geeta; Pasupulati, Saichand; Hacker, Julia; Prakash, K. Reddy; Dasari, Ravi Chandra; Lau, Joey; Penagos-Tafurt, Nelly; Olofsson, Helena M.; Hallberg, Gunilla; Skotnicki, Piotr; Mitu?, Jerzy; Skokowski, Jaroslaw; Jankowski, Michal; ?rutek, Ewa; Zegarski, Wojciech; Tiensuu Janson, Eva; Ry?, Janusz; Tot, Tibor; Dumanski, Jan P.

    2015-01-01

    Sporadic breast cancer (SBC) is a common disease without robust means of early risk prediction in the population. We studied 282 females with SBC, focusing on copy number aberrations in cancer-free breast tissue (uninvolved margin, UM) outside the primary tumor (PT). In total, 1162 UMs (1–14 per breast) were studied. Comparative analysis between UM(s), PT(s), and blood/skin from the same patient as a control is the core of the study design. We identified 108 patients with at least one aberrant UM, representing 38.3% of cases. Gains in gene copy number were the principal type of mutations in microscopically normal breast cells, suggesting that oncogenic activation of genes via increased gene copy number is a predominant mechanism for initiation of SBC pathogenesis. The gain of ERBB2, with overexpression of HER2 protein, was the most common aberration in normal cells. Five additional growth factor receptor genes (EGFR, FGFR1, IGF1R, LIFR, and NGFR) also showed recurrent gains, and these were occasionally present in combination with the gain of ERBB2. All the aberrations found in the normal breast cells were previously described in cancer literature, suggesting their causative, driving role in pathogenesis of SBC. We demonstrate that analysis of normal cells from cancer patients leads to identification of signatures that may increase risk of SBC and our results could influence the choice of surgical intervention to remove all predisposing cells. Early detection of copy number gains suggesting a predisposition toward cancer development, long before detectable tumors are formed, is a key to the anticipated shift into a preventive paradigm of personalized medicine for breast cancer. PMID:26430163

  4. Interactive Effect of Nitrogen and Water Stress on Leaf Area of Sunflower (Helianthus annuus L.)

    OpenAIRE

    Abdul Ghani; Dr. Mumtaz Hussain; Anwar-ul-Hassan

    2000-01-01

    The interactive effect of nitrogen and water stress on leaf area of sunflower (Helianthus annuus L.) was studied in Pots. Nitrogen and sporadic stress was induced by a cycle of ten-days watering and ten-days stress period after 20, 30, 40 and 50 days of sowing. Data revealed that the sporadic stress and nitrogen had highly significant response. When either the stress period was increased or nitrogen level decreased, the leaf area significantly decreased. The highest leaf area values were reco...

  5. Human Noroviruses and Sporadic Gastroenteritis

    Centers for Disease Control (CDC) Podcasts

    2008-08-05

    In this podcast, Dan Rutz speaks with Dr. Manish Patel, a medical officer with the Division of Viral Diseases at CDC, about an article in August 2008 issue of Emerging Infectious Diseases reporting on nororviruses. Dr. Patel reviewed 235 studies and identified 31 original studies about noroviruses. Norovirus is the leading cause of epidemic gastroenteritis.  Created: 8/5/2008 by Emerging Infectious Diseases.   Date Released: 7/30/2008.

  6. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type-dependent sex ratio of mutation frequencies

    Energy Technology Data Exchange (ETDEWEB)

    Becker, J.; Schmidt, W.; Olek, K. [Univ. of Bonn (Germany)] [and others

    1996-04-01

    The clinical manifestation of hemophilia A is caused by a wide range of different mutations. In this study the factor VIII genes of 147 severe hemophilia A patients-all exclusively from sporadic families-were screened for mutations by use of the complete panel of modern DNA techniques. The pathogenous defect could be characterized in 126 patients (85.7%). Fifty-five patients (37.4%) showed a F8A-gene inversion, 47 (32.0%) a point mutation, 14 (9.5%) a small deletion, 8 (5.4%) a large deletion, and 2 (1.4%) a small insertion. Further, four (2.7%) mutations were localized but could not be sequenced yet. No mutation could be identified in 17 patients (11.6%). Sixteen (10.9%) of the P identified mutations occurred in the B domain. Four of these were located in an adenosine nucleotide stretch at codon 1192, indicating a mutation hotspot. Somatic mosaicisms were detected in 3 (3.9%) of 76 patients` mothers, comprising 3 of 16 de novo mutations in the patients` mothers. Investigation of family relatives allowed detection of a de novo mutation in 16 of 76 two-generation and 28 of 34 three-generation families. On the basis of these data, the male:female ratio of mutation frequencies (k) was estimated as k = 3.6. By use of the quotients of mutation origin in maternal grandfather to patient`s mother or to maternal grandmother, k was directly estimated as k = 15 and k = 7.5, respectively. Considering each mutation type separately, we revealed a mutation type-specific sex ratio of mutation frequencies. Point mutations showed a 5-to-10-fold-higher and inversions a >10-fold- higher mutation rate in male germ cells, whereas deletions showed a >5-fold-higher mutation rate in female germ cells. Consequently, and in accordance with the data of other diseases like Duchenne muscular dystrophy, our results indicate that at least for X-chromosomal disorders the male:female mutation rate of a disease is determined by its proportion of the different mutation types. 68 refs., 1 fig., 5 tabs.

  7. GLYOXALASE I A111E, PARAOXONASE 1 Q192R AND L55M POLYMORPHISMS IN ITALIAN PATIENTS WITH SPORADIC CEREBRAL CAVERNOUS MALFORMATIONS: A PILOT STUDY.

    Science.gov (United States)

    Rinaldi, C; Bramanti, P; Famà, A; Scimone, C; Donato, L; Antognelli, C; Alafaci, C; Tomasello, F; D'Angelo, R; Sidoti, A

    2015-01-01

    It is already known that the conditions of increased oxidative stress are associated to a greater susceptibility to vascular malformations including cerebral cavernous malformations (CCMs). These are vascular lesions of the CNS characterized by abnormally enlarged capillary cavities that can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes: CCM1(Krit1), CCM2 (MGC4607) and CCM3 (PDCD10). Polymorphisms in the genes encoding for enzymes involved in the antioxidant systems such as glyoxalase I (GLO I) and paraoxonase I (PON I) could influence individual susceptibility to the vascular malformations. A single nucleotide polymorphism was identified in the exon 4 of GLO 1 gene that causes an amino acid substitution of Ala for Glu (Ala111Glu). Two common polymorphisms have been described in the coding region of PON1, which lead to glutamine ? arginine substitution at 192 (Q192R) and a leucine ? methionine substitution at 55 (L55M). The polymorphisms were characterized in 59 patients without mutations in the CCM genes versus 213 healthy controls by PCR/RFLP methods using DNA from lymphocytes. We found that the frequency of patients carrying the GLO1 A/E genotype among the case group (56%) was four-fold higher than among the controls (14.1%). In the cohort of CCM patients, an increase in the frequency of PON192 Q/R genotype was observed (39% in the CCM group versus 3.7% in the healthy controls). Similarly, an increase was observed in the proportion of individuals with the genotype R/R in the disease group (5%) in respect to the normal healthy cohort (0.5%). Finally, the frequency of the PON55 heterozygotes L/M genotype was 29% in patients with CCMs and 4% in the healthy controls. The same trend was observed in PON55 homozygous M/M genotype frequency (CCMs 20% vs controls 10%). The present study aimed to investigate the possible association of GLO1 A111E, PON1 Q192R and L55M polymorphisms with the risk of CCMs. We found that individuals with the GLO1 A /E genotype, PON192/QR-RR genotypes and PON55/LM-MM genotypes had a significantly higher risk of CCMs compared with the other genotypes. However, because CCM is a heterogeneous disease, other additional factors might be involved in the initiation and progression of CCM disease. PMID:26122242

  8. Tratamiento de schwanomas vestibulares esporádicos mediante radiocirugía: Estudio prospectivo de cohorte Radiosurgical treatment of sporadic vestibular schwannomas: A prospective cohort study

    Directory of Open Access Journals (Sweden)

    Freddy Martel V

    2008-12-01

    Full Text Available Objetivo: Analizar los resultados iniciales de un estudio prospectivo en pacientes con schwanomas vestibulares tratados con radiocirugía en la Pontificia Universidad Católica de Chile. Material y método: Se presentan 17 pacientes portadores de schwanomas vestibulares esporádicos tratados con radiocirugía y seguidos entre 6 y 26 meses. El tratamiento fue realizado con acelerador lineal Varían clinac21 EX, con equipamiento Varían-Zmed. La dosis marginal administrada al tumor fue de 12 a 12,5 Gray El seguimiento a 6, 12 y 24 meses consta de resonancia magnética, audiometríay evaluación clínica. Resultados: La dosis marginal de irradiación usada fue entre 12y 12,5 Gray normalizada a la isodosis 70% u 80%. En todos los pacientes se documentó disminución de la captación de contraste del tumor y en 16 (94% se observaron áreas de necrosis centro tumoral. No hubo mortalidad, la preservación de audición útil fue 62,5% actuaría! a 2 años. No ha existido deterioro de la función de los nervios facial ni trigémino. Todos los pacientes que previamente estaban trabajando retornaron a sus labores en promedio 11,5 días luego del tratamiento. Conclusiones: Los resultados iniciales de esta serieison comparables a los resultados publicados en la literatura y refuerzan el demostrado rol de la radiocirugía en el tratamiento de los schwanomas vestibulares.Objective: To analyze the preliminary experience of radiosurgery for Vestibular Schwannomas at the Pontificia Universidad Católica de Chile. Material and methods: Thefirst 17 patients with sporadic Vestibular Schwannomas treated by radiosurgery at our institution are reponed. The marginal dose used was 12 to 12.5 Gy. prescribed at the 70 or 80 isodose Une. Patients were controlled at 6, 12 and 24 months with magnetic resonance, audiometric study and clinical examination. Results: In all of the 17 patients treated a decrease tumor enhancement on MR was demonstrated. In 16 patients (94% a pattern of central tumor necrosis was observed during the firsyear Actuaría! useful hearing was maintained in 62.5% at 2 year after treatment. Facial nerve function was maintained in all of the 15 patients with normal function at treatment (100%. Trigémina! function was maintained in all of the 14 patients (100% with previous normal trigeminal function. The mean time to return to work or normal activities was 11.5 days after treatment Conclusions: These preliminary results are comparable with results published in the literature and reinforce the demónstrate role oí radiosurgery in the management oí vestibular schwannomas.

  9. Identification of three new mutations in the RB1 gene in patients with sporadic retinoblastoma in Colombia / Identificación de tres nuevas mutaciones en el gen RB1 en pacientes con retinoblastoma esporádico en Colombia

    Scientific Electronic Library Online (English)

    Martha Lucía, Serrano; Juan José, Yunis.

    2013-03-01

    Full Text Available Introducción. El retinoblastoma es un cáncer pediátrico de la retina originado por la expresión alterada o ausente de la proteína del retinoblastoma (pRb). Se requiere la alteración genética de ambos alelos RB1 en las células de la retina para el desarrollo del retinoblastoma. En la forma esporádica [...] , las mutaciones no hereditarias del gen RB1 ocurren en un solo retinoblasto y están presentes sólo en el ADN del tumor (mutaciones somáticas). El retinoblastoma esporádico es generalmente unilateral, no tiene historia familiar y no tiene riesgo de transmisión a la descendencia. Las pruebas genéticas para la detección de mutaciones en RB1 han mejorado la identificación de portadores y han facilitado la precisión de la asesoría genética. Objetivo. Detectar mutaciones en el gen RB1 en pacientes colombianos con retinoblastoma esporádico mediante PCR-SSCP seguido de secuenciación. Materiales y métodos. Se analizaron cuatro pacientes con retinoblastoma esporádico para la detección de variaciones en el gen RB1 mediante PCR-SSCP, seguida de secuenciación. Resultados. Se identificaron cinco variaciones del gen RB1 : tres mutaciones nuevas (una de línea germinal y dos somáticas), un polimorfismo nuevo y una mutación somática ya reportada. Las cuatro mutaciones se encontraron en tres pacientes con retinoblastoma unilateral y uno con bilateral. La mutación germinal se detectó en un paciente con compromiso unilateral y no se encontró en los padres ni en los tres hermanos analizados. Conclusión. Estos resultados enfatizan la importancia, para asesoría genética y manejo clínico, de identificar mutaciones del gen RB1 en pacientes con retinoblastoma esporádico. La descripción de una nueva variante en RB1 es interesante, dado el muy bajo número de polimorfismos reportados para este gen. Abstract in english Introduction. Retinoblastoma is a childhood cancer of the retina originated by altered or null retinoblastoma protein (pRb) expression. Genetic alterations in both RB1 alleles in the retinal cells are required for the development of retinoblastoma. In the sporadic form, non-hereditary RB1 gene mutat [...] ions take place in a single retinoblast cell, and are therefore only present in tumor DNA (somatic mutations). Sporadic retinoblastoma is primarily unilateral, lacks family history and has no risk of transmission to descendants. Genetic tests for detection of RB1 mutation has improved the identification of carriers and facilitated accurate genetic counseling. Objective. To identify mutations in the RB1 gene in Colombian patients with sporadic retinoblastoma by PCR-SSCP followed by sequence. Materials and methods. Four patients with sporadic retinoblastoma were analyzed by PCR-SSCP, followed by DNA sequencing to identify variations in the RB1 gene. Results. We identified five variations in RB1 gene: three new mutations (one germline and two somatic mutations), one new polymorphism and one already reported somatic mutation. Four mutations were found in three patients with unilateral retinoblastoma and one mutation was found in a patient with bilateral retinoblastoma. One of these was a germline mutation in a sporadic unilateral retinoblastoma that was not present in the parents or three siblings analyzed. Conclusions. Our results emphasize the importance of identifying mutations for genetic counseling and clinical management of sporadic retinoblastoma patients. Description of a new RB1 gene variant is interesting since there have been a small number of polymorphisms reported for this gene.

  10. Polimorfismo da apolipoproteína e nos familiares em primeiro grau de pacientes com doença de Alzheimer familial ou esporádica Apolipoprotein e polymorphism in first-degree relatives of patients with familial or sporadic Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    João de Castilho Cação

    2007-06-01

    Full Text Available INTRODUÇÃO: A apolipoproteína E (apo E é reconhecida como fator de risco para doença de Alzheimer (DA. OBJETIVO: Analisar o polimorfismo da apo E nos familiares em primeiro grau de pacientes com DA familial ou esporádica do tipo tardio, comparando a famílias sem DA. MÉTODO: Foram estudados 40 pacientes com DA familial ou esporádica do tipo tardio, sendo os grupos classificados como provável, segundo critérios da NINCS-ADRDA. RESULTADO: O alelo épsilon3 foi o mais freqüente em todos os grupos. Observou-se freqüência mais elevada de épsilon4 comparando os familiares dos probandos aos do grupo controle (pINTRODUCTION: Apolipoproteín E (apo E has been recognized as a risk factor for Alzheimer disease (AD. OBJECTIVE: To analyze apo E polymorphism in first-degree relatives of patients with familial or sporadic late-onset AD comparing with families without AD. METHOD: Forty patients with familial or sporadic late-onset of AD, being both groups classified as probable, according of NINCS-ADRDA’s criteria. RESULTS: Allele epsilon3 was the most frequent in all of these groups. Higher frequency of epsilon4 when comparing the relatives of the probands with the relatives of the control group (p<0,0001 was observed. Allele epsilon2 showed significant difference only between relatives of familial AD and relatives of control group (p=0,026. CONCLUSION: Apo E polymorphism has not differentiated familial from sporadic AD. The study of families allows to amplify the alelles epsilon2 and epsilon4 representativity, revealing, their value as protecting factor and of risk for AD, respectively.

  11. Epidemiology of sporadic (non-epidemic) cases of Trichophyton tonsurans infection in Japan based on PCR-RFLP analysis of non-transcribed spacer region of ribosomal RNA gene.

    Science.gov (United States)

    Mochizuki, Takashi; Kawasaki, Masako; Anzawa, Kazushi; Fujita, Jun; Ushigami, Tsuyoshi; Takeda, Kiminobu; Sano, Ayako; Takahashi, Yoko; Kamei, Katsuhiko

    2008-05-01

    A number of cases of Trichophyton tonsurans infection have been reported among sportsmen and women participating in wrestling, judo, and sumo wrestling in Japan, but there have also been sporadic reports of cases with no history of contact with these sports. A molecular method using restriction enzyme analysis of PCR-amplified fragments targeting the non-transcribed spacer region (NTS) of ribosomal RNA gene in fungal nuclei was applied to T. tonsurans strains isolated from sporadic cases in Japan. Five of 6 molecular types recorded in Japan, i.e., NTS types I, II, IV, V, and VI, and two new types, designated NTS VII and NTS VIII, were observed among 10 strains isolated from sporadic cases. The NTS IV strains, considered not to be related to the present epidemic, were found to be the most prevalent molecular type accounting for 4 of the 10 strains isolated. NTS I was the most prevalent type in the current epidemic in Japan, but it was cultured from only one patient who was later noted to be the daughter of a retired judo practitioner. Four subjects had histories of living abroad and were considered to have been infected outside Japan. The strains in these cases were NTS II, V, VI, and VII. The results of this study suggested that the NTS IV strains were originally present in Japan at a low incidence, but that there has been a recent influx of NTS I, II, V, VI, and VII from abroad, which has been accompanied by the secondary spread of strains from wrestlers and practitioners of martial arts to the general community. PMID:18503175

  12. Tables, bounds and graphics of the smallest known sizes of complete arcs in the plane $\\mathrm{PG}(2,q)$ for all $q\\le160001$ and sporadic $q$ in the interval $[160801\\ldots 430007]$

    OpenAIRE

    Bartoli, Daniele; Davydov, Alexander A.; Faina, Giorgio; Kreshchuk, Alexey A.; Marcugini, Stefano; Pambianco, Fernanda

    2013-01-01

    In the projective planes $\\mathrm{PG}(2,q)$, we collect the smallest known sizes of complete arcs for the regions \\begin{align*} &\\mbox{all } q\\le160001,~~ q \\mbox{ prime power};\\\\ &Q_{4}=\\{34 \\mbox{ sporadic }q'\\mbox{s in the interval }[160801\\ldots430007], \\mbox{ see Table 3}\\}. \\end{align*} For $q\\le160001$, the collection of arc sizes is complete in the sense that arcs for all prime powers are considered. This proves new upper bounds on the smallest size $t_{2}(2,q)$ o...

  13. Impacto prognóstico da expressão imuno-histoquímica do BRCA1 nos carcinomas mamários esporádicos / Prognostic impact of BRCA1 immunohistochemistry expression in sporadic breast carcinomas

    Scientific Electronic Library Online (English)

    Alfredo, Ribeiro-Silva; Sérgio Britto, Garcia; Fernando, Chahud; Sérgio, Zucoloto.

    2005-06-01

    Full Text Available INTRODUÇÃO: Embora mutações no BRCA1 sejam raras nos carcinomas mamários não-familiares, é comum haver perda de expressão da proteína codificada por esse gene. A importância prognóstica desse achado não está bem estabelecida. OBJETIVOS: analisar a expressão imuno-histoquímica do BRCA1 em carcinomas [...] mamários esporádicos e comparar os resultados obtidos com dados clínicos e histopatológicos de importância prognóstica. MATERIAL E MÉTODO: 102 carcinomas ductais sem outras especificações foram submetidos ao método imuno-histoquímico com os anticorpos BRCA1, RE, RP, p53, c-erbB-2 e Ki67. Os dados clínicos foram obtidos dos prontuários médicos. RESULTADOS: No epitélio normal, o BRCA1 apresentou apenas marcação nuclear, enquanto os carcinomas apresentaram tanto marcação nuclear quanto a citoplasmática. Os carcinomas com baixa expressão imuno-histoquímica do BRCA1 foram pouco diferenciados, com alta taxa proliferativa, negativos para receptores hormonais e positivos para c-erbB-2. Não houve correlação da expressão do BRCA1 com idade, estado menstrual, tamanho tumoral, acometimento de linfonodos, estadiamento patológico e expressão do p53. As sobrevidas média e livre de doença das pacientes cujos tumores expressaram menos e mais de 25% de marcação para o BRCA1 nas células neoplásicas foram de 4,2 e 3,9; e 7,8 e 6,3 anos, respectivamente. Abstract in english BACKGROUND: Although mutations in BRCA are rare in non familiar breast carcinomas, it is common the lost of expression of the protein codified by this gene. The prognostic importance of this finding is not well established. OBJECTIVES: to analyze the immunohistochemistry expression of BRCA1 in spora [...] dic breast carcinomas and to compare the results with clinical and histopathologic data of prognostic significance. MATERIAL AND METHOD: 102 NOS ductal carcinomas were submitted to the immunohistochemistry method with the antibodies BRCA1, ER, PR, p53, c-erbB-2 and Ki67. The clinical data were retrieved from medical files. RESULTS: In normal epithelium, BRCA1 showed only nuclear staining, while the carcinomas showed either nuclear or cytoplasmatic staining. Carcinomas with reduced expression of BRCA1 were poorly differentiated, with high proliferative rate, negative for hormonal receptors, and positive for c-erbB-2. There was not correlation between BRCA1 expression with age, menstrual status, tumoral size, lymph nodes status, pathologic stage, and p53 expression. The mean survival and disease-free survival of patients which tumors expressed less and more of 25% of neoplastic cells stained for BRCA1 were 4.2 and 3.9; and 7.8 and 6.3 years respectively. CONCLUSIONS: BRCA1 may be considered a useful marker in identification of sporadic carcinomas of poor prognosis that is in high risk for precocious recurrence.

  14. Outcome of sporadic amyotrophic lateral sclerosis treated With non-invasive ventilation and riluzole Sobrevida en pacientes con esclerosis lateral amiotrófica esporádica tratados con ventilación no invasiva y riluzole

    Directory of Open Access Journals (Sweden)

    Martín Sívori

    2007-08-01

    Full Text Available Sporadic amyotrophic lateral sclerosis (sALS is a progressive degenerative motor neuron disorder lacking specific treatment. Riluzole is the only drug able to modestly slow down the course of the disease. Respiratory insufficiency is the main cause of death; non invasive ventilation (NIV has shown to improve survival. Our aim was to evaluate the effect of NIV and riluzole on survival. Ninety seven patients with a diagnosis of sALS were assessed and followed up for 60 months. Twenty nine patients received NIV and 68 did not (nNIV. Overall median survival In the NIV group was 15.41 ± 7.78 months vs. 10.88 ± 7.78 months in the nNIV group (p= 0.028. Median survival time was not different in patients receiving riluzole (n=44, as compared with those who did not (n=53, although at month 4th and 5th riluzole treated patients showed a modest benefit. In those who only received NIV (n=11 or only riluzole (n=26, survival time was 13.45 ± 13.44 months and 11.19 ± 7.79 months, respectively. Patients who received both NIV and riluzole (n=18 had a median survival time of 16.61 ± 10.97 months vs. 10.69 ± 7.86 months for those who received only supportive treatment (n=42 (p= 0.021. NIV improved survival in our series of patients. Riluzole did not show any significant impact on survival when employed as the only therapy. Patients receiving both treatments simultaneously had a significant longer survival.La esclerosis lateral amiotrófica esporádica (sALS es una enfermedad degenerativa para la que no existe tratamiento etiológico eficaz. El riluzole prolonga poco la sobrevida. La principal causa de muerte es la insuficiencia respiratoria. Uno de los tratamientos para esta última es la ventilación asistida no invasiva (NIV con equipos de doble nivel de presión. El objetivo de este trabajo fue determinar el impacto en la sobrevida de estos enfermos combinando ventilación no invasiva y riluzole. Se evaluaron y siguieron durante 60 meses 97 pacientes con diagnóstico de sALS, según criterios definidos en El Escorial modificados, y fueron seguidos por 60 meses. Veintinueve pacientes recibieron NIV y 68 no (nNIV. En el grupo NIV la sobrevida media fue de 15.41 ± 7.78 meses vs. 10.88 ± 7.78 meses en nNIV (p= 0.028. La sobrevida media de los pacientes que recibieron riluzole (n=44 no fue diferente de la que no lo recibieron (n=53, aunque en el 4° y 5° mes los pacientes tratados con riluzole mostraron un escaso beneficio. Los pacientes que recibieron NIV y riluzole (n=18 tuvieron una sobrevida media de 16.61 ± 10.97 meses vs. 10.69 ± 7.86 meses para los que sólo recibieron tratamiento sintomático (n=42 (p= 0.021. La NIV prolongó significativamente la sobrevida en este grupo de pacientes. El riluzole, empleado como única terapéutica, no lo hizo. Los pacientes que combinaron los dos tratamientos tuvieron la mayor sobrevida.

  15. Outcome of sporadic amyotrophic lateral sclerosis treated With non-invasive ventilation and riluzole / Sobrevida en pacientes con esclerosis lateral amiotrófica esporádica tratados con ventilación no invasiva y riluzole

    Scientific Electronic Library Online (English)

    Martín, Sívori; Gabriel E., Rodríguez; Daniel, Pascansky; César, Séenz; Roberto E. P., Sica.

    2007-08-01

    Full Text Available La esclerosis lateral amiotrófica esporádica (sALS) es una enfermedad degenerativa para la que no existe tratamiento etiológico eficaz. El riluzole prolonga poco la sobrevida. La principal causa de muerte es la insuficiencia respiratoria. Uno de los tratamientos para esta última es la ventilación as [...] istida no invasiva (NIV) con equipos de doble nivel de presión. El objetivo de este trabajo fue determinar el impacto en la sobrevida de estos enfermos combinando ventilación no invasiva y riluzole. Se evaluaron y siguieron durante 60 meses 97 pacientes con diagnóstico de sALS, según criterios definidos en El Escorial modificados, y fueron seguidos por 60 meses. Veintinueve pacientes recibieron NIV y 68 no (nNIV). En el grupo NIV la sobrevida media fue de 15.41 ± 7.78 meses vs. 10.88 ± 7.78 meses en nNIV (p= 0.028). La sobrevida media de los pacientes que recibieron riluzole (n=44) no fue diferente de la que no lo recibieron (n=53), aunque en el 4° y 5° mes los pacientes tratados con riluzole mostraron un escaso beneficio. Los pacientes que recibieron NIV y riluzole (n=18) tuvieron una sobrevida media de 16.61 ± 10.97 meses vs. 10.69 ± 7.86 meses para los que sólo recibieron tratamiento sintomático (n=42) (p= 0.021). La NIV prolongó significativamente la sobrevida en este grupo de pacientes. El riluzole, empleado como única terapéutica, no lo hizo. Los pacientes que combinaron los dos tratamientos tuvieron la mayor sobrevida. Abstract in english Sporadic amyotrophic lateral sclerosis (sALS) is a progressive degenerative motor neuron disorder lacking specific treatment. Riluzole is the only drug able to modestly slow down the course of the disease. Respiratory insufficiency is the main cause of death; non invasive ventilation (NIV) has shown [...] to improve survival. Our aim was to evaluate the effect of NIV and riluzole on survival. Ninety seven patients with a diagnosis of sALS were assessed and followed up for 60 months. Twenty nine patients received NIV and 68 did not (nNIV). Overall median survival In the NIV group was 15.41 ± 7.78 months vs. 10.88 ± 7.78 months in the nNIV group (p= 0.028). Median survival time was not different in patients receiving riluzole (n=44), as compared with those who did not (n=53), although at month 4th and 5th riluzole treated patients showed a modest benefit. In those who only received NIV (n=11) or only riluzole (n=26), survival time was 13.45 ± 13.44 months and 11.19 ± 7.79 months, respectively. Patients who received both NIV and riluzole (n=18) had a median survival time of 16.61 ± 10.97 months vs. 10.69 ± 7.86 months for those who received only supportive treatment (n=42) (p= 0.021). NIV improved survival in our series of patients. Riluzole did not show any significant impact on survival when employed as the only therapy. Patients receiving both treatments simultaneously had a significant longer survival.

  16. Nanocoatings size effect in nanostructured films

    CERN Document Server

    Aliofkhazraei, Mahmood

    2014-01-01

    Size effect in structures has been taken into consideration over the last years. In comparison with coatings with micrometer-ranged thickness, nanostructured coatings usually enjoy better and appropriate properties, such as strength and resistance. These coatings enjoy unique magnetic properties and are used with the aim of producing surfaces resistant against erosion, lubricant system, cutting tools, manufacturing hardened sporadic alloys, being resistant against oxidation and corrosion. This book reviews researches on fabrication and classification of nanostructured coatings with focus on size effect in nanometric scale. Size effect on electrochemical, mechanical and physical properties of nanocoatings are presented.

  17. Effect of cadmium ions on chlorella. Communication 2. Modification of UV-irradiation effect

    International Nuclear Information System (INIS)

    The addition of cadmium chloride into the culture medium enchanced the lethal and mutagenic effects of chronic UV-irradiation on Chlorella cells. However, the share of non-viable mutant cells appeared to be lower than the expected level with an additive effect of both factors. The decrease in number of mutants as compared to the general level was achieved through speckled clones wich were characterized by an increased level of sporadical cell death. Combined effect of cadmium ions and UV-irradiation prevented distortions in cell division

  18. Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease / Frequência da mutação G2019S do LRRK2 em pacientes com doença de Parkinson esporádica e início tardio

    Scientific Electronic Library Online (English)

    Hsin Fen, Chien; Tamires Rocha, Figueiredo; Marianna Almeida, Hollaender; Fabiano, Tofoli; Leonel Takao, Takada; Lygia da Veiga, Pereira; Egberto Reis, Barbosa.

    2014-05-01

    Full Text Available Mutação no gene LRRK2, predominantemente G2019S, foi descrita em indivíduos com doença de Parkinson (DP) esporádica ou herança autossômica dominante. A penetrância da mutação varia com a idade e há evidências de ancestral comum. As manifestações clínicas são indistinguíveis da DP idiopática. Sua pre [...] valência depende da população estudada e varia de 0,1% em asiáticos a 41% em árabes do norte africano. O objetivo desse estudo foi identificar a mutação G2019S em brasileiros com DP esporádica. Método: Foram testados 100 pacientes com DP e 100 controles pareados por idade e sexo. A análise genética foi realizada pela reação em cadeia por polimerização (PCR). Resultados: Não foi encontrada a mutação G2019S nem nos pacientes com DP nem nos controles. Conclusão: É possível que nossos resultados sejam devidos ao pequeno número de pacientes incluídos. Abstract in english Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson’s disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable fr [...] om idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients. Method: We sampled 100 PD patients and 100 age- and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR). Results: No G2019S mutations were found in both patients with sporadic PD and controls. Conclusions: Our results may be explained by the relatively small sample size.

  19. Positive selection at codon 38 of the human KCNE1 (= minK gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes

    Directory of Open Access Journals (Sweden)

    Pfeufer Arne

    2009-08-01

    Full Text Available Abstract Background KCNE1 represents the regulatory beta-subunit of the slowly activating delayed rectifier potassium channel (IKs. Variants of KCNE1 have repeatedly been linked to the long-QT syndrome (LQTS, a disorder which predisposes to deafness, ventricular tachyarrhythmia, syncope, and sudden cardiac death. Results We here analyze the evolution of the common Gly38Ser variant (rs1805127, using genomic DNAs, complementary DNAs, and HEK293-expressed variants of altogether 19 mammalian species. The between species comparison reveals that the human-specific Gly38Ser polymorphism evolved under strong positive Darwinian selection, probably in adaptation to specific challenges in the fine-tuning of IKs channels. The involved amino acid exchanges (Asp > Gly, Gly > Ser are moderately radical and do not induce apparent changes in posttranslational modification. According to population genetic analyses (HapMap phase II a heterozygote advantage accounts for the maintenance of the Gly38Ser polymorphism in humans. On the other hand, the expression of the 38Ser allele seems to be disadvantageous under certain conditions, as suggested by the sporadic deficiency of 38Ser-coding mRNAs in heterozygote Central Europeans and the depletion of homozygotes 38Ser in the Yoruban sample. Conclusion We speculate that individual differences in genomic imprinting or genomic recoding might have contributed to conflicting results of recent association studies between Gly38Ser polymorphism and QT phenotype. The findings thus highlight the relevance of mRNA data in future association studies of genotypes and clinical disorders. To the best of our knowledge, they moreover provide first time evidence for a unique pattern; i.e. coincidence of positive Darwinian selection and polymorphism with a sporadically suppressed expression of one allele.

  20. Interactive effect of water stress and nitrogen on plant height and root length of wheat (Triticum aestivum L.)

    OpenAIRE

    Abdul Ghani; Abid Nisar Ahmad; Anwar-ul-Hassan; Iqbal, M.; G. Yasin; Naeem Iqbal

    2000-01-01

    Interactive effect of water stress and nitrogen on plant height and root length of wheat varieties inqulab-91 and Parwaz-94 were investigated. Urea as nitrogen fertilizer was applied before imposition of water stress in plots and water stress was imposed 25, 35 and 45 days after germination. The data reveal that sporadic stress and urea fertilizer have highly significant response. The effects of water stress were mostly reduced to greater extent at high nitrogen level (98 gm / plot) Nitrogen ...

  1. BEHAVIORAL EFFECTS OF DOPAMINERGIC AGONISTS IN TRANSGENIC MICE OVEREXPRESSING HUMAN WILDTYPE ?-SYNUCLEIN

    OpenAIRE

    Fleming, S.M.; Salcedo, J.; Hutson, C.B.; ROCKENSTEIN, E.; Masliah, E; Levine, M. S.; CHESSELET, M.-F.

    2006-01-01

    Overexpression of ?-synuclein causes familial Parkinson’s disease and abnormal aggregates of the protein are present in sporadic cases of the disease. We have examined the behavioral effects of direct and indirect dopaminergic agonists in transgenic mice expressing human ?-synuclein under the Thy-1 promoter (Thy1-aSyn, alpha-synuclein overexpressor), which exhibit progressive impairments in behavioral tests sensitive to nigrostriatal dopamine dysfunction. Male Thy1-aSyn and wild-type mice rec...

  2. Effect of nadolol on liver haemodynamics and function in patients with cirrhosis.

    OpenAIRE

    Merkel, C.; Sacerdoti, D; Finucci, G F; Zuin, R.; Bazzerla, G; Bolognesi, M; GATTA, A

    1986-01-01

    Beta-adrenoceptor blockers used in the medical management of portal hypertension decrease liver blood flow. The sporadic onset of hepatic encephalopathy during propranolol treatment was ascribed to this decrease. The aim of the present study was to evaluate the effect of chronic treatment with nadolol on liver blood flow and liver function. Nadolol, a non-cardioselective beta-adrenoceptor blocker, has been reported to be as powerful as propranolol in decreasing portal pressure. Before and aft...

  3. Modelling the Effects of Seasonality and Socioeconomic Impact on the Transmission of Rift Valley Fever Virus

    OpenAIRE

    Xiao, Yanyu; BEIER, JOHN C.; Cantrell, Robert Stephen; Cosner, Chris; DeAngelis, Donald L.; Ruan, Shigui

    2015-01-01

    Rift Valley fever (RVF) is an important mosquito-borne viral zoonosis in Africa and the Middle East that causes human deaths and significant economic losses due to huge incidences of death and abortion among infected livestock. Outbreaks of RVF are sporadic and associated with both seasonal and socioeconomic effects. Here we propose an almost periodic three-patch model to investigate the transmission dynamics of RVF virus (RVFV) among ruminants with spatial movements. Our findings indicate th...

  4. Variability of sporadic E-layer semi transparency (foEs-fbEswith magnitude and distance from earthquake epicenters to vertical sounding stations

    Directory of Open Access Journals (Sweden)

    E. V. Liperovskaya

    2003-01-01

    Full Text Available Variations of the Es-layer semi transparency co-efficient were analyzed for more than 100 earthquakes with magnitudes M > 4 and depths h Es-layer X = (foEs – fbEs/fbEs can characterize, for thin layers, the presence of small scale plasma turbulence. It is shown that the turbulence level decreases by ~ 10% during three days before earthquakes probably due to the heating of the atmosphere. On the contrary, the turbulence level increases by the same value from one to three days after the shocks. For earthquakes with magnitudes M > 5 the effect exists at distances up to 300 km from the epicenters. The effect could also exist for weak (M ~ 4 and shallow (depth < 50 km earthquakes at a distance smaller than 200 km from the epicenters.

  5. Sporadic Ionospheric Structures Caused by Atmospheric Waves Evolving in the Inhomogeneous Horizontal Wind and their Coupling with the 557.7 nm and 630.0 nm Line Nightglow Intensity Variations

    Science.gov (United States)

    Didebulidze, G. G.; Dalakishvili, G.; Gudadze, N. B.; Matiashvili, G.; Todua, M.

    2014-12-01

    The variations characteristic for the short-period atmospheric gravity waves (AGWs) evolving in the horizontal shear flow and vortical-type perturbations (shear wave) can be observed in the mid-latitude oxygen green 557.7 nm and red 630.0 nm line nightglow intensities emitted from the lower thermosphere and the ionosphere F2 regions. These atmospheric waves evolving in the inhomogeneous horizontal wind can cause formation of the sporadic E (Es layer), multi-layered structures in the ionosphere F2 region and short-period variations of their electron/ions density. The wave-like structure in the mid-latitude green and red line intensities which can be accompanied by the Es formation is noted. The importance of AGW generation and dissipation in the tidal wind responsible for upper atmosphere-ionosphere coupling processes also is noted in the simultaneous nightglow observations of the 557.7 nm and 630.0 nm line intensities. The impulse-like structures in the 630.0 nm line intensities with duration of about 3-4 hours can be caused by in situ excited shear wave and also by vertical propagation of the tidal wind. The possibility of the latter phenomena can be supported by observed simultaneous (3-4 hours duration) increase in the 557.7 nm and the 630.0 nm lines intensities on magnetically quiet periods.

  6. Polimorfismo da apolipoproteína e nos familiares em primeiro grau de pacientes com doença de Alzheimer familial ou esporádica / Apolipoprotein e polymorphism in first-degree relatives of patients with familial or sporadic Alzheimer's disease

    Scientific Electronic Library Online (English)

    João de Castilho, Cação; Dorotéia Rossi Silva, Souza; Waldir Antonio, Tognola; Maria Regina Pereira de, Godoy; Marcela Augusta de Souza, Pinhel.

    2007-06-01

    Full Text Available INTRODUÇÃO: A apolipoproteína E (apo E) é reconhecida como fator de risco para doença de Alzheimer (DA). OBJETIVO: Analisar o polimorfismo da apo E nos familiares em primeiro grau de pacientes com DA familial ou esporádica do tipo tardio, comparando a famílias sem DA. MÉTODO: Foram estudados 40 paci [...] entes com DA familial ou esporádica do tipo tardio, sendo os grupos classificados como provável, segundo critérios da NINCS-ADRDA. RESULTADO: O alelo épsilon3 foi o mais freqüente em todos os grupos. Observou-se freqüência mais elevada de épsilon4 comparando os familiares dos probandos aos do grupo controle (p Abstract in english INTRODUCTION: Apolipoproteín E (apo E) has been recognized as a risk factor for Alzheimer disease (AD). OBJECTIVE: To analyze apo E polymorphism in first-degree relatives of patients with familial or sporadic late-onset AD comparing with families without AD. METHOD: Forty patients with familial or s [...] poradic late-onset of AD, being both groups classified as probable, according of NINCS-ADRDA’s criteria. RESULTS: Allele epsilon3 was the most frequent in all of these groups. Higher frequency of epsilon4 when comparing the relatives of the probands with the relatives of the control group (p

  7. Measurements and modelling of intermediate, descending, and sporadic layers in the lower ionosphere: Results and implications for global-scale ionospheric-thermospheric studies

    Energy Technology Data Exchange (ETDEWEB)

    Wilkinson, P.J.; Szuszczewicz, E.P.; Roble, R.G.

    1992-01-24

    The authors demonstrate that conventional ionosondes can provide long-term observations on intermediate, descending, and transitional layers in the 100-200 km altitude region of the ionosphere. Using 15 consecutive days of observations at Townsville, Australia, during the SUNDIAL campaign of September 1989, they tracked the birth of the layers at altitudes above 150 km and their systematic downward motion to the 110 km region at rates between 4 and 5 km/hr. The observations are compared with NCAR TIGCM simulations, and the results show: (1) that the layering process is identifiable with meridional wind-shear-node convergence of ions; (2) that zonal wind controls of the layers are insignificant under the prevailing conditions; and (3) that electric fields play an important role in the effectiveness of the ion-convergence and downward transport processes at altitudes above 125 km. The measurement and modeling comparisons are the first of a kind, providing insight into the relative roles of winds and electric fields, and opening possibilities for determining the global characteristics of the layers and their cause-effect roles in the dynamics of the lower ionospheric-thermospheric domain.

  8. Interaction Effects of Water Stress and Nitrogen Fertilizer on Node Number and Root Length of Sunflower (Helianthus annuus L.)

    OpenAIRE

    Akbar Ali Meo

    2000-01-01

    The interaction effects of water stress and nitrogen fertilizer on sunflower variety "Shmas" were studied in pot cultivation. Urea as nitrogen fertilizer was applied and water stress was sporadically induced by a cycle of 10 day watering and 10 day stress period after 20, 30, 40, and 50 days of sowing. Node number and Root length were significantly affected by the interactive effect of water stress and nitrogen fertilizer dose. These two parameter will significantly decrease when either spora...

  9. Teratologic effectiveness and fetal toxicity of DTPA in the rat

    International Nuclear Information System (INIS)

    Ca-DTPA, injected intraperitoneally in rats from day 8 through 12 of gestation, was embryocidal in doses larger than 8-HD (eight times the human dose of 28.7 ?mol/kg body weight). The effect was 100 percent fatal at doses greater than 16-HD. No fetal deaths occurred from Zn-DTPA, even at 64-HD. Some fetuses from dams receiving greater than 8-HD of either salt showed an increase in hydronephrosis and some alteration in kidney structure. A few minor skeletal abnormalities were also observed at these doses. In general, the teratologic effects of DTPA, if any, were minor and sporadic. (U.S.)

  10. Sporadic amyotrophic lateral sclerosis: new hypothesis regarding its etiology and pathogenesis suggests that astrocytes might be the primary target hosting a still unknown external agent Esclerosis lateral amiotrófica esporádica: nueva hipótesis relacionada con su etiología y patogenia que sugiere que los astrocitos podrían ser el blanco primario alojando un agente nocivo aun desconocido

    OpenAIRE

    Roberto E. P. Sica; Alejandro F. de Nicola; María C. González Deniselle; Gabriel Rodriguez; Gisella M. Gargiulo Monachelli; Liliana Martinez Peralta; Mariela Bettini

    2011-01-01

    This article briefly describes the already known clinical features and pathogenic mechanisms underlying sporadic amyotrophic lateral sclerosis, namely excitoxicity, oxidative stress, protein damage, inflammation, genetic abnormalities and neuronal death. Thereafter, it puts forward the hypothesis that astrocytes may be the cells which serve as targets for the harmful action of a still unknown environmental agent, while neuronal death may be a secondary event following the initial insult to gl...

  11. Interactive Effect of Water Stress and Nitrogen on Yield and Biomass of Wheat (Triticum aestivum L.)

    OpenAIRE

    Abdul Ghani; Abid Nisar Ahmad; Akbar Ali Meo

    1999-01-01

    The interactive effect of water stress and nitrogen on yield and biomass of wheat varieties Inqulab "91" and Parwaz "94" were investigated. The objective of present study is to evaluate the compensating role of nitrogen fertilizer in relation to drought stress on the growth and yield of these wheat varieties. Urea as nitrogen fertilizer was applied before imposition of water stress in plots and water stress was imposed 25, 35 and 45 days after germination. The data reveal that sporadic stress...

  12. Effects of social environment and personality on communication in male Siamese fighting fish in an artificial network

    DEFF Research Database (Denmark)

    Matessi, Giuliano; Matos, Ricardo Jorge Santa Clara; Peake, Tom M.; McGregor, Peter K.; Dabelsteen, Torben

    2010-01-01

    Individuals of the same species, sex, age and size may differ in suites of behaviour traits in a consistent manner across time and may thus represent different personalities. In a communication context, the personality of an individual may both affect and be affected by the behaviour of the individuals surrounding it within a network. We investigated the effects of a change of local social environment on two behavioural types, ‘persistent' versus ‘sporadic' signaller, in Siamese fighting fish, B...

  13. Familial prostate cancer has a more aggressive course than sporadic prostate cancer after treatment for localized disease, mainly due to a higher rate of distant metastases

    International Nuclear Information System (INIS)

    Purpose: We had already established that familial prostate cancer, defined as prostate cancer diagnosed in a father or brother, was an independent predictor of biochemical failure after treatment for localized disease. Our aim was to determine whether differences in outcome could be observed with respect to clinical failures (either local or distant) between the two forms of prostate cancer. Methods: Of the 1685 consecutive cases with localized prostate carcinoma treated between 1986 and 1996, patients with the following were excluded from the present study: no pretreatment Prostatic Specific Antigen (iPSA) level (n=54), no biopsy Gleason score (bGS) (n=25), adjuvant or neoadjuvant treatment (n=234), no available follow-up PSA level (n=30). We also excluded 617 patients who did not have a minimum of 3 years potential follow-up. The analysis was performed on 725 cases. Radiotherapy (RT) was the primary treatment in 330 patients and radical prostatectomy (RP) in 395 patients. Five percent had clinical stage T3 disease (n=37). Positive family history was defined as the presence of prostate cancer in a first degree relative (father or brother). The outcomes of interest were biochemical relapse-free survival (bRFS), clinical relapse-free survival (cRFS), local relapse-free survival (locRFS), distant relapse-free survival (dRFS). We used proportional hazards to analyze the effect of family history and other potential confounding variables (i.e. age, race, treatment modality, stage, biopsy GS, and iPSA levels) on treatment outcome. We included pathologic findings (extracapsular extension, seminal vesicle involvement, surgical margin involvement, and lymph node metastases) in a separate analysis for RP patients. Results: The median follow-up was 45 months. Eight percent of all cases (n=57) had a positive family history. The 5-year bRFS rates for patients with negative and positive family history were 54% and 38%, respectively (p<0.001). The 5-year cRFS rates for patients with negative and positive family history were 83% and 72% percent, respectively (p=0.013). The 5-year locRFS rates for patients with negative and positive family history were 91% and 87% percent, respectively (p=0.45). The 5-year dRFS rates for patients with negative and positive family history were 91% and 84%, respectively (p=0.032). Table 1 displays the statistical significance in crude (univariate) and adjusted (multivariate) analysis of all factors analyzed with respect to outcomes of interest. After adjusting for potential confounders, family history of prostate cancer remained strongly associated with biochemical failure. For RP patients, even in the presence of pathologic parameters, family history remained a strong independent predictor of biochemical, clinical, and distant failure (data not shown). Conclusion: Our findings suggest that familial prostate cancer may have a more aggressive course after treatment than non-familial prostate cancer, and that clinical and/or pathological parameters may not adequately predict this course. Familial prostate cancer seems associated with a higher rate of distant metastases. Further studies need to be performed to confirm these findings

  14. A survey of Epstein-Barr virus gene expression in sporadic non-Hodgkin's lymphomas. Detection of Epstein-Barr virus in a subset of peripheral T-cell lymphomas

    DEFF Research Database (Denmark)

    Hamilton-Dutoit, Stephen Jacques; Pallesen, G

    1992-01-01

    This study analyzes the association of Epstein-Barr virus (EBV) with non-Hodgkin's lymphoma (NHL) arising in patients without pre-existing overt immunodeficiency. The authors examined 201 lymphomas (105 high-grade B-cell, 82 peripheral T-cell, 7 high-grade non-B-cell, non-T-cell, and 7 hairy-cell leukemia) for EBV gene expression by immunohistologic procedures using monoclonal antibodies to EBV latent, immediate early, and replicative infection antigens. Transformation-associated EBV latent membrane protein 1 (LMP 1) was detected in 13 (6%) NHL, comprising 4 (4%) high-grade B-cell, 8 (10%) peripheral T-cell, and 1 non-B-cell, non-T-cell lymphomas. Anaplastic large-cell lymphoma of T-cell type was consistently LMP 1-negative. EBV nuclear antigen 2 was demonstrated in only three (1%) cases. Induction of replication as defined by expression of the immediate early BamHI Z leftward reading frame 1 (BZLF1) protein was detected in five cases, but early (EA) and late (VCA and MA) lytic cycle antigens were only found in two cases and in one case, respectively. The presence of EBV was confirmed by in situ DNA hybridization in 9 of 11 EBV antigen-positive lymphomas. This study shows the surprisingly frequent presence of EBV in peripheral T-cell NHL in European patients without pre-existing overt immunodeficiency. Interestingly, most sporadic B-cell NHL are not associated with the virus. Furthermore, the usefulness of selected monoclonal antibodies for the routine immunohistological diagnosis of EBV infection was confirmed.

  15. Genomic instability at the 13q31 locus and somatic mtDNA mutation in the D-loop site correlate with tumor aggressiveness in sporadic Brazilian breast cancer cases

    Scientific Electronic Library Online (English)

    Gilson Costa dos, Santos-Jr; Andréa Carla de Souza, Góoes; Humberto de, Vitto; Carla Cristina, Moreira; Elizabeth, Avvad; Franklin David, Rumjanek; Claudia Vitoria de Moura, Gallo.

    2012-10-01

    Full Text Available OBJECTIVE: Genomic instability is a hallmark of malignant tissues. In this work, we aimed to characterize nuclear and mitochondrial instabilities by determining short tandem repeats and somatic mitochondrial mutations, respectively, in a cohort of Brazilian sporadic breast cancer cases. Furthermore, [...] we performed an association analysis of the molecular findings and the clinical pathological data. METHODS: We analyzed 64 matched pairs of breast cancer and adjacent non-cancerous breast samples by genotyping 13 nuclear short tandem repeat loci (namely, D2S123, TPOX, D3S1358, D3S1611, FGA, D7S820, TH01, D13S317, D13S790, D16S539, D17S796, intron 12 BRCA1 and intron 1 TP53) that were amplified with the fluorescent AmpFlSTR Identifiler Genotyping system (Applied Biosystems, USA) and by silver nitrate staining following 6% denaturing polyacrylamide gel electrophoresis. Somatic mtDNA mutations in the D-loop site were assessed with direct sequencing of the hypervariable HVI and HVII mitochondrial regions. RESULTS: Half of the cancer tissues presented some nuclear instability. Interestingly, the D13S790 locus was the most frequently affected (36%), while the D2S123 locus presented no alterations. Forty-two percent of the cases showed somatic mitochondrial mutations, the majority at region 303-315 poly-C. We identified associations between Elston grade III, instabilities at 13q31 region (p = 0.0264) and mtDNA mutations (p = 0.0041). Furthermore, instabilities at 13q31 region were also associated with TP53 mutations in the invasive ductal carcinoma cases (p= 0.0207). CONCLUSION: Instabilities at 13q31 region and the presence of somatic mtDNA mutations in a D-loop site correlated with tumor aggressiveness.

  16. Genomic instability at the 13q31 locus and somatic mtDNA mutation in the D-loop site correlate with tumor aggressiveness in sporadic Brazilian breast cancer cases

    Directory of Open Access Journals (Sweden)

    Gilson Costa dos Santos-Jr

    2012-10-01

    Full Text Available OBJECTIVE: Genomic instability is a hallmark of malignant tissues. In this work, we aimed to characterize nuclear and mitochondrial instabilities by determining short tandem repeats and somatic mitochondrial mutations, respectively, in a cohort of Brazilian sporadic breast cancer cases. Furthermore, we performed an association analysis of the molecular findings and the clinical pathological data. METHODS: We analyzed 64 matched pairs of breast cancer and adjacent non-cancerous breast samples by genotyping 13 nuclear short tandem repeat loci (namely, D2S123, TPOX, D3S1358, D3S1611, FGA, D7S820, TH01, D13S317, D13S790, D16S539, D17S796, intron 12 BRCA1 and intron 1 TP53 that were amplified with the fluorescent AmpFlSTR Identifiler Genotyping system (Applied Biosystems, USA and by silver nitrate staining following 6% denaturing polyacrylamide gel electrophoresis. Somatic mtDNA mutations in the D-loop site were assessed with direct sequencing of the hypervariable HVI and HVII mitochondrial regions. RESULTS: Half of the cancer tissues presented some nuclear instability. Interestingly, the D13S790 locus was the most frequently affected (36%, while the D2S123 locus presented no alterations. Forty-two percent of the cases showed somatic mitochondrial mutations, the majority at region 303-315 poly-C. We identified associations between Elston grade III, instabilities at 13q31 region (p = 0.0264 and mtDNA mutations (p = 0.0041. Furthermore, instabilities at 13q31 region were also associated with TP53 mutations in the invasive ductal carcinoma cases (p= 0.0207. CONCLUSION: Instabilities at 13q31 region and the presence of somatic mtDNA mutations in a D-loop site correlated with tumor aggressiveness.

  17. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

    DEFF Research Database (Denmark)

    Boonen, Susanne E; Hahnemann, Johanne M D

    2012-01-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50-60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations of the ZFP57 gene were reported in patients with transient neonatal diabetes mellitus type 1, showing hypomethylation at multiple imprinted loci, including KCNQ1OT1 DMR in some. The aim of our study was to determine whether ZFP57 alterations were a genetic cause of the hypomethylation at KCNQ1OT1 DMR in patients with BWS. We sequenced ZFP57 in 27 BWS probands and in 23 available mothers to test for a maternal effect. We identified three novel, presumably benign sequence variants in ZFP57; thus, we found no evidence for ZFP57 alterations as a major cause in sporadic BWS cases.

  18. [Four malaria-import patterns: sporadic region].

    Science.gov (United States)

    Parlak, Emine; Ertürk, Ay?e; Cay?r, Yasemin; Parlak, Mehmet

    2013-01-01

    Malaria, as it has been during history, is an important parasitic infectious health problem nowadays. In Turkey, the most common kind of malaria is Plasmodium vivax, and P. falciparum is rarely observed in import events. After eradication activities started in 1926, the number of cases dramatically decreased in our country. However, the number of import cases is increasing as a result of tourism, migration, and deficiency in the eradication program. In tropical and sub-tropical regions and in endemic regions of Turkey such as South-Eastern Anatolia and Çukurova, in every feverish phenomenon, malaria is the first disease to be considered. The purpose of the present study is to evaluate clinical epidemiological characteristics of the four import patterns in foreign studies. PMID:23955919

  19. Sporadic Ataxia and Multiple System Atrophy (MSA)

    Science.gov (United States)

    ... a condition in which people act out their dreams with active body movements, sometimes shouting or speaking, ... in establishing exercise and stretching, and gait retraining. Therapy frequently proves helpful for people with incoordination. If ...

  20. Genetic epidemiology of sporadic colorectal cancer.

    Czech Academy of Sciences Publication Activity Database

    Vodi?ka, Pavel; Pardini, Barbara; Sou?ek, P.; Novotný, J.; Naccarati, Alessio; Vodi?ková, Ludmila; Hánová, Monika; Tulupová, Elena; Poláková, Veronika; Halamková, J.; Hemminki, K.

    2006-01-01

    Ro?. 18, Supplement 1 (2006), S8-S8. ISSN 1107-3756. [The 11th World Congress on Advances in Oncology and 9th International Symposium on Molecular Medicine. 12.10.2006-14.10.2006, Hersonissos] R&D Projects: GA ?R GA310/05/2626; GA MZd NR8563 Institutional research plan: CEZ:AV0Z50390512 Keywords : DNA repair genes Subject RIV: EB - Genetics ; Molecular Biology

  1. Neutral atmosphere influence on sporadic E layer.

    Czech Academy of Sciences Publication Activity Database

    Mošna, Zbyšek; Koucká Knížová, Petra; Potužníková, Kate?ina

    Sozopol : Space Research and Technologies Institute, Bulgarian Academy of Sciences, 2015. s. 17. [Workshop “Solar Influences on the Magnetosphere, Ionosphere and Atmosphere” /7th/. 01.06.2015-05.06.2015, Sunny Beach] Institutional support: RVO:68378289 Subject RIV: DG - Athmosphere Sciences, Meteorology http://ws-sozopol.stil.bas.bg/2015Sunny/abstract_book2015.pdf

  2. Radar sporadic meteor rates and solar activity.

    Czech Academy of Sciences Publication Activity Database

    Šimek, Miloš; Pecina, Petr

    2002-01-01

    Ro?. 88, ?. 2 (2002), s. 115-122. ISSN 0167-9295 R&D Projects: GA AV ?R KSK3012103 Keywords : correlation * meteor rates * solar activity Subject RIV: BN - Astronomy, Celestial Mechanics, Astrophysics Impact factor: 1.364, year: 2002

  3. Deregulated genes in sporadic vestibular schwannomas

    DEFF Research Database (Denmark)

    Cayé-Thomasen, Per; Helweg-Larsen, Rehannah Holga Andrea; Stangerup, Sven-Eric; Thomsen, Jens Christian; Nielsen, Finn Cilius

    2010-01-01

    In search of genes associated with vestibular schwannoma tumorigenesis, this study examines the gene expression in human vestibular nerve versus vestibular schwannoma tissue samples using microarray technology.

  4. Forbush-effects and atmospheric pressure dynamics at high-altitude Tien Shan station

    International Nuclear Information System (INIS)

    We present atmospheric pressure dynamics studies at the high-altitude Tien Shan station (3340 m above sea level) during 23rd cycle of solar activity after Forbush-effects. It is established that 80 % of Forbush effects with delay 1 ÷ 3 days are accompanied with steady depression of atmospheric pressure irrespective of geomagnetic field conditions. We found that atmospheric pressure dynamics at mountains and ground levels during investigated periods is different. Experimental results are compared with possible mechanisms of influence of sporadic effects of solar activity on circulation of the lower atmosphere.

  5. Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B).

    Science.gov (United States)

    Takatani, Rieko; Minagawa, Masanori; Molinaro, Angelo; Reyes, Monica; Kinoshita, Kaori; Takatani, Tomozumi; Kazukawa, Itsuro; Nagatsuma, Misako; Kashimada, Kenichi; Sato, Kenichi; Matsushita, Kazuyuki; Nomura, Fumio; Shimojo, Naoki; Jüppner, Harald

    2015-10-01

    Pseudohypoparathyroidism type Ib (PHP1B) is caused by proximal tubular resistance to parathyroid hormone that occurs in most cases in the absence of Albright's Hereditary Osteodystrophy (AHO). Familial forms of PHP1B are caused by maternally inherited microdeletions within STX16, the gene encoding syntaxin 16, or within GNAS, a complex genetic locus on chromosome 20q13.3 encoding Gs? and several splice variants thereof. These deletions lead either to a loss-of-methylation affecting GNAS exon A/B alone or to epigenetic changes involving multiple differentially methylated regions (DMRs) within GNAS. Broad GNAS methylation abnormalities are also observed in most sporadic PHP1B (sporPHP1B) cases. However, with the exception of paternal uniparental disomy involving chromosome 20q (patUPD20q), the molecular mechanism leading to this disease variant remains unknown. We now investigated 23 Japanese sporPHP1B cases, who presented with hypocalcemia, hyperphosphatemia, elevated PTH levels, and occasionally with TSH elevations and mild AHO features. Age at diagnosis was 10.6 ± 1.45 years. Calcium, phosphate, and PTH were 6.3 ± 0.23 mg/dL, 7.7 ± 0.33 mg/dL, and 305 ± 34.5 pg/mL, respectively, i.e. laboratory findings that are indistinguishable from those previously observed for Caucasian sporPHP1B cases. All investigated patients showed broad GNAS methylation changes. Eleven individuals were homozygous for SNPs within exon NESP and a pentanucleotide repeat in exon A/B. Two of these patients furthermore revealed homozygosity for numerous microsatellite markers on chromosome 20q raising the possibility of patUPD20q, which was confirmed through the analysis of parental DNA. Based on this and our previous reports, paternal duplication of the chromosomal region comprising the GNAS locus appears to be a fairly common cause of sporPHP1B that is likely to occur with equal frequency in Caucasians and Asians. PMID:25997889

  6. Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1 / Aplicação de teste genético para definição da conduta cirúrgica num caso esporádico de neoplasia endócrina múltipla do tipo 1

    Scientific Electronic Library Online (English)

    Cesar Luiz, Boguszewski; Leila Caroline, Bianchet; Salmo, Raskin; Luiz M., Nomura; Luis Alencar, Borba; Teresa Cristina Santos, Cavalcanti.

    2010-11-01

    Full Text Available Relatamos o uso de teste genético para decisão terapêutica em um caso de hiperparatireoidismo primário associado com doença de Cushing (DC). Uma jovem de 20 anos foi avaliada por ganho de peso gradual, astenia, mialgias e hipertensão. Os exames complementares confirmaram DC e ela foi submetida à cir [...] urgia transesfenoidal. A análise imuno-histoquímica do microadenoma foi positiva para hormônio adrenocorticotrófico (ACTH). No seguimento, a paciente apresentou hipercalcemia com níveis elevados de hormônio de paratireoide (PTH), nefrolitíase e densidade mineral óssea baixa em coluna e fêmur. A cintilografia de paratireoide mostrou captação do traçador em região inferior do lobo esquerdo da tireoide e a ecografia cervical revelou nódulo heterogêneo na mesma área, sugestivo de adenoma da paratireoide (AP). O teste genético detectou mutação no gene MEN 1 e ela foi submetida à paratireoidectomia total com implante de fragmento de uma das glândulas no antebraço. A patologia confirmou AP e as outras três glândulas normais, sem hiperplasia, apesar do diagnóstico de MEN 1. Esse caso ilustra a importância do teste genético para definir a abordagem terapêutica em um caso esporádico de MEN 1. Abstract in english We report the use of a genetic test for therapeutic decision making in a case of primary hyperparathyroidism associated with Cushing's disease (CD). A 20-year-old woman was evaluated for gradual weight gain, asthenia, muscle pain, and hypertension. Biochemical and radiologic tests confirmed CD and s [...] he underwent transsphenoidal surgery. Immunohistochemistry of the microadenoma was positive for adrenocorticotropic hormone (ACTH). On follow-up, hypercalcemia with high parathyroid hormone (PTH) levels was detected, associated with nephrolithiasis and low bone mineral density in the spine and hip. Parathyroid scintigraphy showed tracer uptake in the inferior region of the left thyroid lobe, and cervical ultrasound showed a heterogeneous nodule in the same area, suggestive of a parathyroid adenoma (PA). Genetic testing detected mutation in the MEN 1 gene and total parathyroidectomy with the implantation of a fragment of one gland in the forearm was performed. Pathology showed a PA and 3 normal parathyroid glands, without hyperplasia, despite the diagnosis of MEN 1. This case illustrates the role of genetic testing in defining the therapeutic approach for sporadic MEN 1.

  7. Loss of heterozygosity in the short arm of human chromosome 3 in sporadic lung cancer / Pérdida de heterocigocidad en el brazo corto del cromosoma 3 humano en cáncer esporádico de pulmón

    Scientific Electronic Library Online (English)

    Lina Marcela, Barrera; Lizeth Marelly, Álvarez; Miguel Ignacio, Roldán; Héctor, Ortega; Omar, Triana; Alonso, Martínez.

    2010-12-01

    Full Text Available Introducción: La pérdida de heterocigocidad (LOH) en el brazo corto del cromosoma 3 (3p) humano es un evento frecuente en diferentes tipos de tumores esporádicos, incluyendo cáncer de pulmón (CP). Objetivo: Determinar la LOH de 3p en muestras de CP, con 17 marcadores microsatelitales. Metodología: E [...] n un estudio piloto en voluntarios, se recolectaron 13 biopsias de CP (tejido tumoral) y 4 ml de sangre periférica (tejido normal) del mismo paciente, se extrajo el ADN y se realizaron reacciones en cadena de la polimerasa (PCR) con 17 marcadores microsatelitales para analizar LOH. Los fragmentos amplificados se corrieron en geles de poliacrilamida desnaturalizante al 6% y se visualizaron por medio de la coloración de tinción de plata. El análisis descriptivo se realizó para cada región estudiada en el cromosoma 3p. Resultados: Todos los tumores fueron informativos para uno o más de los marcadores analizados. Se encontró LOH en uno o más loci en 11 muestras (84.6%). Los marcadores con mayores LOH fueron UBE1L (23.1%), D3S1317, D3S1300, D3S1284, D3S1274, D3S3049 y D3S1577 con 15.4%. Tres muestras presentaron inestabilidad microsatelital (cambios en la longitud del microsatélite) en diferentes loci. Los porcentajes de LOH para las regiones de 3p fueron: 17.6 % para 3p24-25, 11.6% para 3p21-22, 20% para 3p13-14 y 18.4% para la región 3p12. Conclusiones: Se identificaron regiones cromosómicas con pérdida alélica donde es probable que se localicen otros GST involucrados en el desarrollo de CP, diferentes de los ya identificados como VHL, RASSF1A, FHIT y DUTTI, entre otros. Se debe aumentar el número de muestras y de marcadores para delimitar una región mínima e identificar algún gen no descrito implicado en la carcinogénesis de pulmón. Abstract in english Introduction: Loss of Heterozygocity (LOH) in the short arm of human chromosome 3 (3p) is a frequent event in different types of sporadic tumors, including lung cancer (LC). Aim: To determine 3p LOH in LC samples using 17 microsatellite markers. Methodology: In a pilot study on volunteers, thirteen [...] LC biopsies (tumor tissue) and 4 ml of blood (normal tissue) from the same patient were collected. DNA extraction and Polymerase Chain Reaction (PCR) were performed with 17 microsatellite markers to analyze LOH. Amplified fragments were run on 6% denaturalizing polyacrilamide gels and were visualized by using silver stain. Descriptive analysis was performed for each region on the 3p chromosome. Results: All tumors were informative for one or more of the analyzed markers. LOH was found in one or more loci in eleven samples (84.6%). The markers with major LOH were UBE1L (23.1%), D3S1317, D3S1300, D3S1284, D3S1274, D3S3049, and D3S1577 (15.4%). Three samples showed microsatellite instability (changes in the length of the microsatellite) in different loci. The percentages of LOH for the regions of 3p were: 17.6 % for 3p24-25, 11.62% for 3p21-22, 20% for 3p13-14, and 18.42% for the 3p12 region. Conclusions: Chromosomal regions with allelic loss were identified where probably other GSTs involved in the development of the LC are localized. It should increases sample size and marker number in order to narrow a minimal region and to identify a unknown gene involved in LC.

  8. Prolonged feeding of terrestrial isopod (Porcellio scaber, Isopoda, Crustacea on TiO2 nanoparicles. Absence of toxic effect

    Directory of Open Access Journals (Sweden)

    Sara Novak

    2012-03-01

    Full Text Available Nanoparticles of titanium dioxide are one of most widely used nanomaterials in different products in everyday use and in industry, but very little is known about their effects on non- target cells and tissues. Terrestrial isopods were exposed to food dosed with nano-TiO2 to give final nominal concentration 1000 and 2000 µg TiO2/g dry weight of food. The effects of ingested nano-TiO2 on the model invertebrate Porcellio scaber (Isopoda, Crustacea after short-term (3 and 7 days and prolonged (14 and 28 days dietary exposure was assessed by conventional toxicity measures such as feeding rate, weight change and mortality. Cell membrane destabilization was also investigated. No severe toxicity effects were observed after 3, 7, 14 or 28 days of dietary exposure to nano-TiO2, but some animals, particularly those exposed to lower concentrations of nanoparticles, had severely destabilized digestive cell membranes. It was concluded that strong destabilization of the cell membrane was sporadic, and neither concentration- nor time-related. Further research is needed to confirm this sporadic toxic effect of nanoparticles.

  9. Enfermedad por bacilo de Calmette-Guérin (BCG) y deficiencia del receptor ?-1 de interleuquina 12: Experiencia clínica de dos casos en una familia y un caso aislado / Bacillus Calmette-Guérin (BCG) disease and interleukin 12 receptor ?1 deficiency: Clinical experience of two familial and one sporadic case

    Scientific Electronic Library Online (English)

    Alexis, Strickler; Amir, Pérez; Migdy, Risco; Silvanna, Gallo.

    2014-08-01

    Full Text Available La enfermedad por el bacilo de Calmette-Guérin (BCG) ha sido reportada en relación a inmunodeficiencias primarias, secundarias y en el síndrome clínico denominado susceptibilidad mendeliana a enfermedades micobacterianas. La investigación de este síndrome ha llevado a la identificación de defectos e [...] n el eje interleuquina (IL)- 12/ interferón gamma (IL-12/IFN-?), habiéndose identificado hasta hoy mutaciones en siete genes autosómicos y dos ligados al cromosoma X. En estos pacientes, las infecciones localizadas o generalizadas por BCG vacunal son comunes. Reportamos una serie clínica constituida por dos lactantes con adenomegalia axilar izquierda recurrente secundaria a vacunación BCG al nacer; uno de ellos integrante de una familia con dos casos reportados previamente y un caso aislado, diagnosticados consecutivamente en Puerto Montt, Chile, con el objetivo de notificar los primeros casos chilenos de diseminación BCG en niños sin inmunodeficiencia previa conocida, en los que se logró identificar la deficiencia inmune subyacente pese a no disponer en el país del estudio específico del eje (IL-12/IFN-?). La sospecha diagnóstica y colaboración internacional permitieron identificar en dos de los tres casos familiares y en el caso aislado, la deficiencia del receptor ?1 de IL 12 (IL12R?1). Abstract in english BCG disease has been reported in primary and secondary immunodeficiency and as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Investigation of this syndrome has led to the identifications of a series of genetic, inherited defects in the IL-12/IFN-? axis. MSMD-causing mutations have been [...] found in seven autosomal and two X-linked genes. In these patients, local or disseminated vaccine BCG infections are common. We report a clinical series including two infants with left axillary adenitis ipsilateral to the site of neonatal BCG immunization; one of them member of a family with two previously reported cases and a single sporadic case. All of them were diagnosed sequentially in Puerto Montt, Chile. The aim of this report is to notify the first Chilean disseminated BCG patients without previous immunodeficiency, in whom it was possible to identify an underlying immunodeficiency, although specific tests for IL-12/IFN-? axis was no performed in our country. Clinical suspicion and international collaboration permitted to confirm IL12-R?1 deficiency in 2 of 3 familial cases and a sporadic case.

  10. The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma: a case report and review of the literature / Rara mutação intracelular p.Ser891Ala do RET em carcinoma medular de tireoide aparentemente esporádico: relato de caso e revisão da literatura

    Scientific Electronic Library Online (English)

    Carla Brauner, Blom; Lucieli, Ceolin; Mirian, Romitti; Débora, Siqueira; Ana Luiza, Maia.

    2012-11-01

    Full Text Available O carcinoma medular de tireoide (CMT) é um tumor maligno originado das células C parafoliculares e corresponde a 4-10% de todos os carcinomas de tireoide. O CMT se desenvolve ou de forma esporádica (75%) ou hereditária (25%). As mutações no proto-oncogene RET são responsáveis pelo CMT hereditário, e [...] a ocorrência de doença hereditária entre casos aparentemente esporádicos de CMT varia de 6 a 15%. A avaliação genética do RET é considerada fundamental no manejo do CMT, mas a extensão de análise molecular necessária para se excluir a doença hereditária ainda é controversa. Embora a avaliação de todos os loci de mutação conhecidos seja recomendada por alguns autores, os altos custos associados com a análise completa devem ser considerados. Neste relato, ilustramos e discutimos esse assunto controverso por meio do caso de um paciente que apresentou todas as características clássicas de CMT esporádico e no qual a análise genética por restrição enzimática excluiu a doença hereditária. No entanto, devido ao diagnóstico de uma neoplasia de tireoide em uma irmã do paciente, foi indicada uma análise molecular mais extensa que identificou a rara mutação intracelular p.Ser891Ala no proto-oncogene RET. Arq Bras Endocrinol Metab. 2012;56(8):586-91 Abstract in english Medullary thyroid carcinoma (MTC) is a malignant tumor originating from parafollicular C-cells and accounts for 4-10% of all thyroid carcinomas. MTC develops in either sporadic (75%) or hereditary form (25%). Mutations in the RET proto-oncogene are responsible for hereditary MTC and the rate of heri [...] table disease among apparently sporadic MTC (sMTC) cases varies from 6 to 15%. RET genetic testing is now considered fundamental in MTC management but the extent of the molecular analysis required to exclude inherited disease is still controversial. While the screening of all known mutation loci is recommended by some authors, the high costs associated with a full analysis should be also taken into consideration. Here, we illustrate and discuss this controversial issue by reporting a patient who present all characteristic features of sMTC, and in whom a standard genetic analysis by restriction enzyme restriction excluded hereditary disease. Nevertheless, an extensive molecular analysis that included all codons was prompted by the diagnosis of thyroid neoplasm in a patient's sister, and identified the rare intracellular RET p.Ser891Ala mutation. Arq Bras Endocrinol Metab. 2012;56(8):586-91

  11. Alzheimer's disease: the amyloid hypothesis and the Inverse Warburg effect

    KAUST Repository

    Demetrius, Lloyd A.

    2015-01-14

    Epidemiological and biochemical studies show that the sporadic forms of Alzheimer\\'s disease (AD) are characterized by the following hallmarks: (a) An exponential increase with age; (b) Selective neuronal vulnerability; (c) Inverse cancer comorbidity. The present article appeals to these hallmarks to evaluate and contrast two competing models of AD: the amyloid hypothesis (a neuron-centric mechanism) and the Inverse Warburg hypothesis (a neuron-astrocytic mechanism). We show that these three hallmarks of AD conflict with the amyloid hypothesis, but are consistent with the Inverse Warburg hypothesis, a bioenergetic model which postulates that AD is the result of a cascade of three events—mitochondrial dysregulation, metabolic reprogramming (the Inverse Warburg effect), and natural selection. We also provide an explanation for the failures of the clinical trials based on amyloid immunization, and we propose a new class of therapeutic strategies consistent with the neuroenergetic selection model.

  12. Gamma radiation effect on health and yield of chicken

    International Nuclear Information System (INIS)

    The long-term effects were studied of gamma radiation on chickens irradiated for 30 days, 23 hours a day at a daily dose rate of 957 mGy. At a cumulative dose of 9,570 mGy, changes were observed including cyanosis of the conjunctiva and the proximity of the eye, anemia of the skin adnexa and in a number of cases also finger contractions. At a cumulative dose of 14,355 to 17,226 mGy, sporadic petechial hemorrhages were spotted on legs. At doses of 20,097 to 28,010 mGy the hemorrhages were more numerous and extensive. A significant decrease in live weight was mainly observed at cumulative doses of 22,968 to 28,710 mGy. The total mortality of the chickens during the experiment was low. (J.B.)

  13. Sporadic amyotrophic lateral sclerosis: new hypothesis regarding its etiology and pathogenesis suggests that astrocytes might be the primary target hosting a still unknown external agent / Esclerosis lateral amiotrófica esporádica: nueva hipótesis relacionada con su etiología y patogenia que sugiere que los astrocitos podrían ser el blanco primario alojando un agente nocivo aun desconocido

    Scientific Electronic Library Online (English)

    Roberto E.P., Sica; Alejandro F. De, Nicola; María C. González, Deniselle; Gabriel, Rodriguez; Gisella M. Gargiulo, Monachelli; Liliana Martinez, Peralta; Mariela, Bettini.

    2011-08-01

    Full Text Available El artículo presente describe, brevemente, las características clínicas y los mecanismos patogénicos de la esclerosis lateral amiotrófica esporádica, tales como la excitotoxicidad, el stress oxidativo, el daño proteico, la inflamación, las anormalidades genéticas y la muerte neuronal. Luego de ello, [...] sugiere la posibilidad hipotética de que los astrocitos podrían ser el blanco primario de la acción de una agente ambiental, externo, aún desconocido, y que la muerte neuronal aconteciera secundariamente a ese daño astrocitario inicial. El artículo concluye discutiendo la posibilidad de que un virus ambiental o endógeno o una proteína mal plegada, que adquiriera características de infectividad, puedan ser la causa de la enfermedad. Abstract in english This article briefly describes the already known clinical features and pathogenic mechanisms underlying sporadic amyotrophic lateral sclerosis, namely excitoxicity, oxidative stress, protein damage, inflammation, genetic abnormalities and neuronal death. Thereafter, it puts forward the hypothesis th [...] at astrocytes may be the cells which serve as targets for the harmful action of a still unknown environmental agent, while neuronal death may be a secondary event following the initial insult to glial cells. The article also suggests that an emergent virus or a misfolded infectious protein might be potential candidates to accomplish this task.

  14. Adaptive Controller Adaptation Time and Available Control Authority Effects on Piloting

    Science.gov (United States)

    Trujillo, Anna; Gregory, Irene

    2013-01-01

    Adaptive control is considered for highly uncertain, and potentially unpredictable, flight dynamics characteristic of adverse conditions. This experiment looked at how adaptive controller adaptation time to recover nominal aircraft dynamics affects pilots and how pilots want information about available control authority transmitted. Results indicate that an adaptive controller that takes three seconds to adapt helped pilots when looking at lateral and longitudinal errors. The controllability ratings improved with the adaptive controller, again the most for the three seconds adaptation time while workload decreased with the adaptive controller. The effects of the displays showing the percentage amount of available safe flight envelope used in the maneuver were dominated by the adaptation time. With the displays, the altitude error increased, controllability slightly decreased, and mental demand increased. Therefore, the displays did require some of the subjects resources but these negatives may be outweighed by pilots having more situation awareness of their aircraft.

  15. Identifying high-risk areas for sporadic measles outbreaks: lessons from South Africa / Identifier les zones à haut risque d'épidémies sporadiques de rougeole: les leçons de l'Afrique du Sud / Identificación de las áreas con riesgo alto de sufrir brotes esporádicos de sarampión: lecciones desde Sudáfrica

    Scientific Electronic Library Online (English)

    Benn, Sartorius; C, Cohen; T, Chirwa; G, Ntshoe; A, Puren; K, Hofman.

    2013-03-01

    Full Text Available OBJETIVO: Desarrollar un modelo para identificar las áreas con riesgo alto de sufrir brotes esporádicos de sarampión en base a un análisis de los factores asociados a un brote nacional en Sudáfrica entre los años 2009 y 2011. MÉTODOS: Los datos de los casos ocurridos antes y durante el brote naciona [...] l se obtuvieron del programa de vigilancia del sarampión de Sudáfrica, y la información acerca de la vacunación contra el sarampión y el tamaño de la población, del sistema de información sanitaria por distritos. Se empleó un modelo de Poisson jerárquico bayesiano para investigar la relación entre el riesgo de sarampión en niños de un distrito con la cobertura de la primera dosis de la vacuna, la densidad de población, el historial de prevalencia de la infección por el virus de la inmunodeficiencia humana (VIH) y el fracaso previsto de la seroconversión. Las proyecciones del modelo se utilizaron para identificar áreas de alto riesgo nuevas en 2012. RESULTADOS: Se observó un patrón espacial claro de las áreas de alto riesgo con muchas zonas conectadas (esto es, colindantes). El riesgo superior de sufrir un brote de sarampión se asoció de modo significativo tanto con el crecimiento previo de un grupo de población vulnerable como con la densidad de población, y también fue elevado cuando más del 20% de los niños en un área populosa no había recibido la primera dosis de la vacuna. El modelo fue capaz de identificar las áreas con riesgo alto de sufrir un brote de sarampión en 2012 y donde podrían emprenderse medidas de prevención adicionales. CONCLUSIÓN: El brote de sarampión en Sudáfrica estuvo asociado con el aumento de un grupo de población vulnerable (debido a una cobertura de vacunación insuficiente), una prevalencia elevada de la infección por VIH y una densidad de población alta. El modelo predictivo desarrollado podría aplicarse a otros lugares susceptibles de sufrir brotes esporádicos de sarampión y otras enfermedades inmunoprevenibles. Abstract in english OBJECTIVE: To develop a model for identifying areas at high risk for sporadic measles outbreaks based on an analysis of factors associated with a national outbreak in South Africa between 2009 and 2011. METHODS: Data on cases occurring before and during the national outbreak were obtained from the S [...] outh African measles surveillance programme, and data on measles immunization and population size, from the District Health Information System. A Bayesian hierarchical Poisson model was used to investigate the association between the risk of measles in infants in a district and first-dose vaccination coverage, population density, background prevalence of human immunodeficiency virus (HIV) infection and expected failure of seroconversion. Model projections were used to identify emerging high-risk areas in 2012. FINDINGS: A clear spatial pattern of high-risk areas was noted, with many interconnected (i.e. neighbouring) areas. An increased risk of measles outbreak was significantly associated with both the preceding build-up of a susceptible population and population density. The risk was also elevated when more than 20% of infants in a populous area had missed a first vaccine dose. The model was able to identify areas at high risk of experiencing a measles outbreak in 2012 and where additional preventive measures could be undertaken. CONCLUSION: The South African measles outbreak was associated with the build-up of a susceptible population (owing to poor vaccine coverage), high prevalence of HIV infection and high population density. The predictive model developed could be applied to other settings susceptible to sporadic outbreaks of measles and other vaccine-preventable diseases.

  16. Decreased regional cerebral blood flow in the bilateral thalami and medulla oblongata determined by an easy Z-score (eZIS) analysis of (99m)Tc-ECD-SPECT images in a case of MM2-thalamic-type sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Hayashi, Yuichi; Iwasaki, Yasushi; Yoshikura, Nobuaki; Asano, Takahiko; Hatano, Taku; Tatsumi, Shinsui; Satoh, Katsuya; Kimura, Akio; Kitamoto, Tetsuyuki; Yoshida, Mari; Inuzuka, Takashi

    2015-11-15

    We report a case of autopsy-verified MM2-thalamic-type sporadic Creutzfeldt-Jakob disease (sCJD) in a 46-year-old patient with a 16-month history of abnormal behavior, progressive dementia, insomnia, and speech disturbances without family history. Neurological examination revealed progressive dementia, frontal signs, insomnia, speech disturbance, gait disturbance and bilaterally exaggerated tendon reflexes. Both brain MRI and cerebrospinal fluid examinations, including 14-3-3 protein, yielded normal results. An easy Z-score (eZIS) analysis for (99m)Tc-ethyl cysteinate dimer-single photon emission computed tomography ((99m)Tc-ECD-SPECT) revealed decreased regional cerebral blood flow in the bilateral thalami and medulla oblongata. PRNP gene analysis revealed methionine homozygosity at codon 129 without mutation. Neuropathological examinations revealed severe neuronal loss, gliosis, and hypertrophic astrocytosis in the medial thalamus and inferior olivary nucleus. A slight depletion of Purkinje cells was observed. PrP immunostaining showed no obvious PrP deposits in the basal ganglia, thalamus, cerebellum, or brainstem; however, mild synaptic-type PrP deposits with some smaller plaque-like structures were only partially observed in the localized region of the frontal lobe with the spongiform change. Western blot analyses of protease-resistant PrP showed a type 2 pattern. In conclusion, eZIS analysis of (99m)Tc-ECD-SPECT images is useful for detecting both thalamic and medullary lesions. This is the first case of medullary lesions detected in a live patient with MM2-thalamic-type sCJD using SPECT. PMID:26421831

  17. Distinct spontaneous shrinkage of a sporadic vestibular schwannoma

    DEFF Research Database (Denmark)

    Huang, Xiaowen; Cayé-Thomasen, Per

    2013-01-01

    We present a case with outspoken spontaneous vestibular schwannoma shrinkage and review the related literature. The patient was initially diagnosed with a left-sided, intrameatal vestibular schwannoma, which subsequently grew into the cerebello-pontine angle (CPA), followed by total shrinkage of the CPA component without any intervention over a 12-year observation period. The literature on spontaneous tumor shrinkage was retrieved by searching the subject terms "vestibular schwannoma, conservative management" in PubMed/MEDLINE database, without a time limit. Of the published data, the articles on "shrinkage" or "negative growth" or "regression" or "involution" of the tumor were selected, and the contents on the rate, extent and mechanism of spontaneous tumor shrinkage were extracted and reviewed. The reported rate of spontaneous shrinkage of vestibular schwannoma is 5-10% of patients managed conservatively. Extreme shrinkage of the tumor may occur spontaneously.

  18. Spectro-orbital observation of a sporadic meteor

    Science.gov (United States)

    Ward, Bill

    2015-08-01

    Working in conjunction with members of the Network for Meteor Triangulation and Orbit Determination (Nemetode) arrangements were made to overlap camera fields of view. This was in an attempt to secure spectroscopic observations combined with multi station observations to determine orbits. This has resulted in the first such combined observations to be made from the UK.

  19. DYNAMICAL MODEL FOR THE ZODIACAL CLOUD AND SPORADIC METEORS

    International Nuclear Information System (INIS)

    The solar system is dusty, and would become dustier over time as asteroids collide and comets disintegrate, except that small debris particles in interplanetary space do not last long. They can be ejected from the solar system by Jupiter, thermally destroyed near the Sun, or physically disrupted by collisions. Also, some are swept by the Earth (and other planets), producing meteors. Here we develop a dynamical model for the solar system meteoroids and use it to explain meteor radar observations. We find that the Jupiter Family Comets (JFCs) are the main source of the prominent concentrations of meteors arriving at the Earth from the helion and antihelion directions. To match the radiant and orbit distributions, as measured by the Canadian Meteor Orbit Radar (CMOR) and Advanced Meteor Orbit Radar (AMOR), our model implies that comets, and JFCs in particular, must frequently disintegrate when reaching orbits with low perihelion distance. Also, the collisional lifetimes of millimeter particles may be longer (?> 105 yr at 1 AU) than postulated in the standard collisional models (?104 yr at 1 AU), perhaps because these chondrule-sized meteoroids are stronger than thought before. Using observations of the Infrared Astronomical Satellite to calibrate the model, we find that the total cross section and mass of small meteoroids in the inner solar system are (1.7-3.5) × 1011 km2 and ?4 × 1019 g, respectively, in a good agreement with previous studies. The mass input required to keep the zodiacal cloud in a steady state is estimated to be ?104-105 kg s–1. The input is up to ?10 times larger than found previously, mainly because particles released closer to the Sun have shorter collisional lifetimes and need to be supplied at a faster rate. The total mass accreted by the Earth in particles between diameters D = 5 ?m and 1 cm is found to be ?15,000 tons yr–1 (factor of two uncertainty), which is a large share of the accretion flux measured by the Long Term Duration Facility. The majority of JFC particles plunge into the upper atmosphere at –1 speeds, should survive the atmospheric entry, and can produce micrometeorite falls. This could explain the compositional similarity of samples collected in the Antarctic ice and stratosphere, and those brought from comet Wild 2 by the Stardust spacecraft. Meteor radars such as CMOR and AMOR see only a fraction of the accretion flux (?1%-10% and ?10%-50%, respectively), because small particles impacting at low speeds produce ionization levels that are below these radars' detection capabilities.

  20. Dynamical Model for the Zodiacal Cloud and Sporadic Meteors

    OpenAIRE

    Nesvorny, David; Janches, Diego; Vokrouhlicky, David; Pokorny, Petr; Bottke, William F.; Jenniskens, Peter

    2011-01-01

    The solar system is dusty, and would become dustier over time as asteroids collide and comets disintegrate, except that small debris particles in interplanetary space do not last long. They can be ejected from the solar system by Jupiter, thermally destroyed near the Sun, or physically disrupted by collisions. Also, some are swept by the Earth (and other planets), producing meteors. Here we develop a dynamical model for the solar system meteoroids and use it to explain meteo...

  1. Sporadic Event-Based Control using Path Constraints and Moments

    OpenAIRE

    Henningsson, Toivo

    2011-01-01

    Control is traditionally applied using periodic sensing and actuation. In some applications, it is beneficial to use instead event based control, to communicate or make a change only when necessary. There are no known general closed form solutions to such event based control problems. We consider stationary event-based control problems with mixed continuous/discrete time dynamics and stochastic disturbances. The system is modelled by a set of path constraints, which are converted into constra...

  2. Sporadic cases of chikungunya, Réunion Island, August 2009.

    OpenAIRE

    D'Ortenzio, E.; Grandadam, M.; Balleydier, E.; Dehecq, J.S.; Jaffar-Bandjee, M. C.; Michault, A.; Andriamandimby, S. F.; Reynes, J.-M.; Filleul, L

    2009-01-01

    On 28 August 2009, French authorities reported five cases of chikungunya fever on Reunion Island: three confirmed, one probable, and one suspected case under investigation. All three confirmed patients presented with an acute febrile syndrome, arthralgia, myalgia and cutaneaous rash. All live in the same area on the western side of the island.

  3. Thinking with Trickster: Sporadic Illuminations for Educational Research

    Science.gov (United States)

    Priyadharshini, Esther

    2012-01-01

    Moments of restriction or impasse--situations that are seemingly intransigent, offering no alternatives or poor alternatives, predicaments leading to less than satisfactory resolutions or unhappy compromises--abound in the practice of educational research. This paper speculates on the possibilities offered by thinking with "Trickster"--a shadowy,…

  4. Molecular epidemiology as a tool for understanding sporadic colorectal cancer.

    Czech Academy of Sciences Publication Activity Database

    Vodi?ka, Pavel

    Prague : EEMS, 2006. s. 131-131. [Annual Meeting of the European Environmental Mutagen Society /36./. 02.07.2006-06.07.2006, Prague] R&D Projects: GA ?R GA310/05/2626; GA MZd NR8563 Institutional research plan: CEZ:AV0Z50390512 Keywords : Molecular Epidemiology Subject RIV: EB - Genetics ; Molecular Biology

  5. Distinct spontaneous shrinkage of a sporadic vestibular schwannoma

    DEFF Research Database (Denmark)

    Huang, Xiaowen; Cayé-Thomasen, Per; Stangerup, Sven-Eric

    2013-01-01

    We present a case with outspoken spontaneous vestibular schwannoma shrinkage and review the related literature. The patient was initially diagnosed with a left-sided, intrameatal vestibular schwannoma, which subsequently grew into the cerebello-pontine angle (CPA), followed by total shrinkage of the CPA component without any intervention over a 12-year observation period. The literature on spontaneous tumor shrinkage was retrieved by searching the subject terms "vestibular schwannoma, conservati...

  6. Differential response of idiopathic sporadic tumoral calcinosis to bisphosphonates

    Directory of Open Access Journals (Sweden)

    Karthik Balachandran

    2014-01-01

    Full Text Available Context: Tumoral calcinosis is a disorder of phosphate metabolism characterized by ectopic calcification around major joints. Surgery is the current treatment of choice, but a suboptimal choice in recurrent and multicentric lesions. Aims: To evaluate the efficacy of bisphosphonates for the management of tumoral calcinosis on optimized medical treatment. Settings and Design: The study was done in the endocrine department of a tertiary care hospital in South India. We prospectively studied two patients with recurrent tumoral calcinosis who had failed therapy with phosphate lowering measures. Materials and Methods: After informed consent, we treated both patients with standard age adjusted doses of bisphosphonates for 18 months. The response was assessed by X ray and whole body 99mTc-methylene diphosphonate bone scan at the beginning of therapy and at the end of 1 year. We also estimated serum phosphate levels and urinary phosphate to document serial changes. Results: Two patients (aged 19 and 5 years with recurrent idiopathic hyperphosphatemic tumoral calcinosis, following surgery were studied. Both patients had failed therapy with conventional medical management ? low phosphate diet and phosphate binders. They had restriction of joint mobility. Both were given standard doses of oral alendronate and parenteral pamidronate respectively for more than a year, along with phosphate lowering measures. At the end of 1 year, one of the patients had more than 95% and 90% reduction in the size of the lesions in right and left shoulder joints respectively with total improvement in range of motion. In contrast, the other patient (5-year-old had shown no improvement, despite continuing to maintain normophosphatemia following treatment. Conclusions: Bisphosphonate therapy in tumoral calcinosis is associated with lesion resolution and may be used as a viable alternative to surgery, especially in cases with multicentric recurrence or treatment failure to other drugs.

  7. Sporadic Creutzfeldt-Jakob Disease (sCJD)

    Centers for Disease Control (CDC) Podcasts

    2009-02-03

    In this podcast, Dr. Lynne Sehulster discusses Creutzfeldt-Jakob disease, a rare neurodegenerative disease. This disease is caused by a pathological accumulation in the brain of an abnormal protein known as prions.  Created: 2/3/2009 by Emerging Infectious Diseases.   Date Released: 2/3/2009.

  8. HAS-1 genetic polymorphism in sporadic abdominal aortic aneurysm

    Directory of Open Access Journals (Sweden)

    Alberto Balbarini

    2009-04-01

    Full Text Available The hyaluronan synthase 1 (HAS-1 gene encodes a plasma membrane protein that synthesizes hyaluronan (HA, an extracellular matrix molecule. Accumulating evidence emphasizes the relevance of HA metabolism in an increasing number of processes of clinical interest, including abdominal aortic aneurysm (AAA. The existence of aberrant splicing variants of the HAS-1 gene could partly explain the altered extracellular matrix architecture and influence various biological functions, resulting in progressive arterial wall failure in the development of AAA. In the present study, we assessed the hypothesis that HAS-1 genetic 833A/G polymorphism could be associated with the risk of AAA by performing a case-control association study, involving AAA patients and healthy matched donors.

  9. DYNAMICAL MODEL FOR THE ZODIACAL CLOUD AND SPORADIC METEORS

    Energy Technology Data Exchange (ETDEWEB)

    Nesvorny, David; Vokrouhlicky, David; Pokorny, Petr; Bottke, William F. [Department of Space Studies, Southwest Research Institute, 1050 Walnut St., Suite 300, Boulder, CO 80302 (United States); Janches, Diego [Space Weather Laboratory, Code 674, GSFC/NASA, Greenbelt, MD 20771 (United States); Jenniskens, Peter [Carl Sagan Center, SETI Institute, 515 N. Whisman Road, Mountain View, CA 94043 (United States)

    2011-12-20

    The solar system is dusty, and would become dustier over time as asteroids collide and comets disintegrate, except that small debris particles in interplanetary space do not last long. They can be ejected from the solar system by Jupiter, thermally destroyed near the Sun, or physically disrupted by collisions. Also, some are swept by the Earth (and other planets), producing meteors. Here we develop a dynamical model for the solar system meteoroids and use it to explain meteor radar observations. We find that the Jupiter Family Comets (JFCs) are the main source of the prominent concentrations of meteors arriving at the Earth from the helion and antihelion directions. To match the radiant and orbit distributions, as measured by the Canadian Meteor Orbit Radar (CMOR) and Advanced Meteor Orbit Radar (AMOR), our model implies that comets, and JFCs in particular, must frequently disintegrate when reaching orbits with low perihelion distance. Also, the collisional lifetimes of millimeter particles may be longer ({approx}> 10{sup 5} yr at 1 AU) than postulated in the standard collisional models ({approx}10{sup 4} yr at 1 AU), perhaps because these chondrule-sized meteoroids are stronger than thought before. Using observations of the Infrared Astronomical Satellite to calibrate the model, we find that the total cross section and mass of small meteoroids in the inner solar system are (1.7-3.5) Multiplication-Sign 10{sup 11} km{sup 2} and {approx}4 Multiplication-Sign 10{sup 19} g, respectively, in a good agreement with previous studies. The mass input required to keep the zodiacal cloud in a steady state is estimated to be {approx}10{sup 4}-10{sup 5} kg s{sup -1}. The input is up to {approx}10 times larger than found previously, mainly because particles released closer to the Sun have shorter collisional lifetimes and need to be supplied at a faster rate. The total mass accreted by the Earth in particles between diameters D = 5 {mu}m and 1 cm is found to be {approx}15,000 tons yr{sup -1} (factor of two uncertainty), which is a large share of the accretion flux measured by the Long Term Duration Facility. The majority of JFC particles plunge into the upper atmosphere at <15 km s{sup -1} speeds, should survive the atmospheric entry, and can produce micrometeorite falls. This could explain the compositional similarity of samples collected in the Antarctic ice and stratosphere, and those brought from comet Wild 2 by the Stardust spacecraft. Meteor radars such as CMOR and AMOR see only a fraction of the accretion flux ({approx}1%-10% and {approx}10%-50%, respectively), because small particles impacting at low speeds produce ionization levels that are below these radars' detection capabilities.

  10. The presence of metastases in regional lymph nodes is associated with tumor size and depth of invasion in sporadic gastric adenocarcinoma / A presença de metástases em linfonodos regionais está associada ao tamanho tumoral e profundidade de invasão no adenocarcinoma gástrico esporádico

    Scientific Electronic Library Online (English)

    Eduardo, CAMBRUZZI; Andreza Mariane de, AZEREDO; Ardala, KRONHART; Katia Martins, FOLTZ; Cláudio Galeano, ZETTLER; Karla Lais, PÊGAS.

    2014-03-01

    Full Text Available Racional: O adenocarcinoma gástrico é encontrado mais frequentemente em homens acima de 50 anos sob a forma de lesão antral. A neoplasia apresenta características histopatológicas heterogêneas e prognóstico ruim (sobrevida média de 15% em cinco anos). Objetivo: Estimar a relação entre a presenç [...] a de metástases nodais e demais fatores prognósticos no adenocarcinoma gástrico esporádico. Método: Foram avaliados 164 casos consecutivos de adenocarcinoma gástrico previamente submetidos à gastrectomia (parcial ou total), sem evidências clínicas de metástase à distância, sendo determinadas as seguintes variáveis: topografia da lesão, tamanho tumoral, configuração macroscópica segundo Borrmann, grau histológico, lesão precoce ou avançada, subtipo histológico segundo Lauren, presença de células em anel de sinete, grau de invasão, status dos linfonodos perigástricos, invasão angiolinfática/perineural e estadiamento. Resultados: Foram encontradas 21 lesões precoces (12,8%) e 143 avançadas (87,2%) com predomínio de lesões T3 (n=99/60,4%) e N1 (n=62/37,8%). O status nodal esteve associado à profundidade de invasão (p Abstract in english Background: Gastric adenocarcinoma is more often found in men over 50 years in the form of an antral lesion. The tumor has heterogeneous histopathologic features and a poor prognosis (median survival of 15% in five years). Aim: To estimate the relationship between the presence of nodal metasta [...] sis and other prognostic factors in sporadic gastric adenocarcinoma. Method: Were evaluated 164 consecutive cases of gastric adenocarcinoma previously undergone gastrectomy (partial or total), without clinical evidence of distant metastasis, and determined the following variables: topography of the lesion, tumor size, Borrmann macroscopic configuration, histological grade, early or advanced lesions, Lauren histological subtype, presence of signet ring cell, degree of invasion, perigastric lymph node status, angiolymphatic/perineural invasion, and staging. Results: Were found 21 early lesions (12.8%) and 143 advanced lesions (87.2%), with a predominance of lesions classified as T3 (n=99/60, 4%) and N1 (n=62/37, 8%). The nodal status was associated with depth of invasion (p

  11. A Comparison of Logistic Regression Models for DIF Detection in Polytomous Items: The Effect of Small Sample Sizes and Non-Normality of Ability Distributions

    Directory of Open Access Journals (Sweden)

    Yasemin KAYA

    2015-01-01

    Full Text Available This study investigated the effectiveness of logistic regression models to detect uniform and non-uniform DIF in polytomous items across small sample sizes and non-normality of ability distributions. A simulation study was used to compare three logistic regression models, which were the cumulative logits model, the continuation ratio model, and the adjacent categories model. The results revealed that logistic regression was a powerful method to detect DIF in polytomous items, but not useful to distinguish the type of DIF. Continuation ratio model worked best to detect uniform DIF, but the cumulative logits model gave more acceptable type I error results. As sample size increased, type I errors increased at cumulative logits model results. Skewness of ability distributions reduced power of logistic regression to detect non-uniform DIF. Small sample sizes reduced power of logistic regression. 

  12. Simulating school closure policies for cost effective pandemic decision making

    Directory of Open Access Journals (Sweden)

    Araz Ozgur M

    2012-06-01

    Full Text Available Abstract Background Around the globe, school closures were used sporadically to mitigate the 2009 H1N1 influenza pandemic. However, such closures can detrimentally impact economic and social life. Methods Here, we couple a decision analytic approach with a mathematical model of influenza transmission to estimate the impact of school closures in terms of epidemiological and cost effectiveness. Our method assumes that the transmissibility and the severity of the disease are uncertain, and evaluates several closure and reopening strategies that cover a range of thresholds in school-aged prevalence (SAP and closure durations. Results Assuming a willingness to pay per quality adjusted life-year (QALY threshold equal to the US per capita GDP ($46,000, we found that the cost effectiveness of these strategies is highly dependent on the severity and on a willingness to pay per QALY. For severe pandemics, the preferred strategy couples the earliest closure trigger (0.5% SAP with the longest duration closure (24?weeks considered. For milder pandemics, the preferred strategies also involve the earliest closure trigger, but are shorter duration (12?weeks for low transmission rates and variable length for high transmission rates. Conclusions These findings highlight the importance of obtaining early estimates of pandemic severity and provide guidance to public health decision-makers for effectively tailoring school closures strategies in response to a newly emergent influenza pandemic.

  13. The effect of alcohol and placebo on post-error adjustments

    Directory of Open Access Journals (Sweden)

    Nathalie Schouppe

    2013-01-01

    Full Text Available Several studies have shown detrimental effects of alcohol on post-error adjustments. In contrast to previous studies, which focused on only one aspect of post-error adaptive behavior, we compared the effect of alcohol and placebo on post-error slowing, post-error reduction of interference and post-error improvement of accuracy. Moreover, we used a between-subjects design (N = 45 comparing a control condition to both an alcohol and an alcohol-placebo condition as to disentangle physiological and expectancy effects of alcohol. In a standard Stroop congruency task, we found that intoxicated participants as well as participants with the incorrect belief of being intoxicated showed significant decreased post-error slowing compared to a control group. Furthermore, we found evidence for a condition-independent post-error increase of interference and post-error decrease of accuracy. The underlying mechanisms of the post-error adaptation effects are discussed in terms of the orienting account (Notebaert et al., 2009.

  14. Modelling the effects of seasonality and socioeconomic impact on the transmission of rift valley Fever virus.

    Science.gov (United States)

    Xiao, Yanyu; Beier, John C; Cantrell, Robert Stephen; Cosner, Chris; DeAngelis, Donald L; Ruan, Shigui

    2015-01-01

    Rift Valley fever (RVF) is an important mosquito-borne viral zoonosis in Africa and the Middle East that causes human deaths and significant economic losses due to huge incidences of death and abortion among infected livestock. Outbreaks of RVF are sporadic and associated with both seasonal and socioeconomic effects. Here we propose an almost periodic three-patch model to investigate the transmission dynamics of RVF virus (RVFV) among ruminants with spatial movements. Our findings indicate that, in Northeastern Africa, human activities, including those associated with the Eid al Adha feast, along with a combination of climatic factors such as rainfall level and hydrological variations, contribute to the transmission and dispersal of the disease pathogen. Moreover, sporadic outbreaks may occur when the two events occur together: 1) abundant livestock are recruited into areas at risk from RVF due to the demand for the religious festival and 2) abundant numbers of mosquitoes emerge. These two factors have been shown to have impacts on the severity of RVF outbreaks. Our numerical results present the transmission dynamics of the disease pathogen over both short and long periods of time, particularly during the festival time. Further, we investigate the impact on patterns of disease outbreaks in each patch brought by festival- and seasonal-driven factors, such as the number of livestock imported daily, the animal transportation speed from patch to patch, and the death rate induced by ceremonial sacrifices. In addition, our simulations show that when the time for festival preparation starts earlier than usual, the risk of massive disease outbreaks rises, particularly in patch 3 (the place where the religious ceremony will be held). PMID:25569474

  15. Bacillus Thuringiensis Parasporal Proteins And Their Effect On Human Cancer Cells : An Overview

    Directory of Open Access Journals (Sweden)

    Shin Yee Rebecca Wong

    2010-12-01

    Full Text Available Bacillus thuringiensis is an anaerobic, spore forming bacterium that produces various toxic proteins both during its vegetative stage and sporulative stage.During its sporulative stage, it produces parasporal proteins that have long been used in the agriculture fields as insecticides. Although anticancer effect of Bacillus thuringiensis parasporal proteins can be dated back to the 1970s, research in this area went through a giant leap in the late 1990s, with much of the work being done in Japan. It has been found that some strains of non-insecticidal Bacillus thuringiensis produce parasporal proteins that exhibit anticancer activity. Due to their selectivity against human cancer cells but not normal cells,some of these proteins have been extensively studied for their anticancer effect and the mechanism of action by which these proteins kill cancer cells have also been widely explored in Japan and Malaysia with sporadic reports from other parts of the world. The abundance of these bacilli in nature and their selectivity have made them potential candidates for cancer treatment. However, literature on the in vivo effect of these proteins is scarce. Since different Bacillus thuringiensis strains produce different cytotoxic proteins with wide variations in their anticancer effect and mechanism of action, further investigations are necessary and their effect in vivo must be well established before they can be used in human subjects.

  16. Effects of Calcium Supplementation on Biomarkers of Inflammation and Oxidative Stress in Colorectal Adenoma Patients: A Randomized Controlled Trial.

    Science.gov (United States)

    Yang, Baiyu; Gross, Myron D; Fedirko, Veronika; McCullough, Marjorie L; Bostick, Roberd M

    2015-11-01

    Inflammation and oxidative stress play important roles in colorectal carcinogenesis. There is strong evidence that calcium reduces risk for colorectal neoplasms, possibly through its ability to bind bile acids and prevent their colonic toxicity (which occurs via an oxidative mechanism and results in an inflammatory response). In a previously reported pilot, randomized, controlled trial among sporadic colorectal adenoma patients we found that those on 2.0 g/day of calcium, relative to those on placebo, had an estimated drop in a combined cytokine z-score of 48% (P = 0.18) over 6 months. To follow-up these promising preliminary findings, we tested the efficacy of two doses of supplemental calcium (1.0 or 2.0 g/day) relative to placebo on modulating circulating biomarkers of inflammation [C-reactive protein (CRP) and 10 cytokines] and oxidative stress (F2-isoprostanes) over a 4-month treatment period among 193 patients with previous sporadic, colorectal adenoma in a randomized, double-blinded, placebo-controlled clinical trial. The inflammation markers were measured in plasma using electrochemiluminescence detection-based immunoassays, and F2-isoprostanes were measured in plasma using gas chromatography-mass spectrometry. Over a 4-month treatment period, we found no appreciable effects of calcium on CRP, cytokines, or F2-isoprostanes (P > 0.4), overall or within strata of several major risk factors for colorectal carcinogenesis, such as body mass index and regular use of nonsteroidal anti-inflammatory drugs. Overall, our results provide no evidence that calcium supplementation favorably modulates concentrations of circulating biomarkers of inflammation or oxidative stress over 4 months among patients with a previous colorectal adenoma. Cancer Prev Res; 8(11); 1069-75. ©2015 AACR. PMID:26304464

  17. Cellular and molecular effects of the mTOR inhibitor everolimus.

    Science.gov (United States)

    Saran, Uttara; Foti, Michelangelo; Dufour, Jean-François

    2015-11-01

    mTOR (mechanistic target of rapamycin) functions as the central regulator for cell proliferation, growth and survival. Up-regulation of proteins regulating mTOR, as well as its downstream targets, has been reported in various cancers. This has promoted the development of anti-cancer therapies targeting mTOR, namely fungal macrolide rapamycin, a naturally occurring mTOR inhibitor, and its analogues (rapalogues). One such rapalogue, everolimus, has been approved in the clinical treatment of renal and breast cancers. Although results have demonstrated that these mTOR inhibitors are effective in attenuating cell growth of cancer cells under in vitro and in vivo conditions, subsequent sporadic response to rapalogues therapy in clinical trials has promoted researchers to look further into the complex understanding of the dynamics of mTOR regulation in the tumour environment. Limitations of these rapalogues include the sensitivity of tumour subsets to mTOR inhibition. Additionally, it is well known that rapamycin and its rapalogues mediate their effects by inhibiting mTORC (mTOR complex) 1, with limited or no effect on mTORC2 activity. The present review summarizes the pre-clinical, clinical and recent discoveries, with emphasis on the cellular and molecular effects of everolimus in cancer therapy. PMID:26330617

  18. Reprint of: revisiting oxidative stress and mitochondrial dysfunction in the pathogenesis of Parkinson disease-resemblance to the effect of amphetamine drugs of abuse.

    Science.gov (United States)

    Perfeito, Rita; Cunha-Oliveira, Teresa; Rego, Ana Cristina

    2013-09-01

    Parkinson disease (PD) is a chronic and progressive neurological disease associated with a loss of dopaminergic neurons. In most cases the disease is sporadic but genetically inherited cases also exist. One of the major pathological features of PD is the presence of aggregates that localize in neuronal cytoplasm as Lewy bodies, mainly composed of ?-synuclein (?-syn) and ubiquitin. The selective degeneration of dopaminergic neurons suggests that dopamine itself may contribute to the neurodegenerative process in PD. Furthermore, mitochondrial dysfunction and oxidative stress constitute key pathogenic events of this disorder. Thus, in this review we give an actual perspective to classical pathways involving these two mechanisms of neurodegeneration, including the role of dopamine in sporadic and familial PD, as well as in the case of abuse of amphetamine-type drugs. Mutations in genes related to familial PD causing autosomal dominant or recessive forms may also have crucial effects on mitochondrial morphology, function, and oxidative stress. Environmental factors, such as MPTP and rotenone, have been reported to induce selective degeneration of the nigrostriatal pathways leading to ?-syn-positive inclusions, possibly by inhibiting mitochondrial complex I of the respiratory chain and subsequently increasing oxidative stress. Recently, increased risk for PD was found in amphetamine users. Amphetamine drugs have effects similar to those of other environmental factors for PD, because long-term exposure to these drugs leads to dopamine depletion. Moreover, amphetamine neurotoxicity involves ?-syn aggregation, mitochondrial dysfunction, and oxidative stress. Therefore, dopamine and related oxidative stress, as well as mitochondrial dysfunction, seem to be common links between PD and amphetamine neurotoxicity. PMID:23743292

  19. The effects of APOE on brain activity do not simply reflect the risk of Alzheimer's disease.

    Science.gov (United States)

    Trachtenberg, Aaron J; Filippini, Nicola; Cheeseman, Jane; Duff, Eugene P; Neville, Matt J; Ebmeier, Klaus P; Karpe, Fredrik; Mackay, Clare E

    2012-03-01

    Possession of the APOE-?4 allele is the best established genetic risk factor for sporadic Alzheimer's disease (AD), while the ?2 allele may confer protection against the disease. Previous functional magnetic resonance imaging (fMRI) studies have shown an effect of APOE genotype on brain function, typically by comparing only ?4 carriers with noncarriers. Here we included a wide range of genotype groups to determine how closely the effects of APOE on brain function are related to differences in relative risk for AD. We used functional magnetic resonance imaging (fMRI) to compare the pattern of activation during an episodic encoding task and during a counting Stroop task in 76 adults, aged 32 to 55, with different APOE genotypes (23 ?2/?3, 20 ?3/?3, 26 ?3/?4, and 7 ?4/?4). Strikingly, participants with an increased risk (?4 carriers) and with a decreased risk (?2 carriers) for AD both showed increased activation, relative to ?3 homozygotes, during both tasks. The increased activation was due to decreased deactivation or paradoxical activation of nontask-related regions of the brain, which suggests an intrinsic effect of APOE on the differentiation of functional cortical networks. These results question the often assumed link between APOE, the blood oxygenation level dependent (BOLD) response, and AD risk. PMID:21232817

  20. Effects of forest management on bird assemblages in the Bialowieza Forest, Poland

    Directory of Open Access Journals (Sweden)

    Czeszczewik D

    2015-06-01

    Full Text Available We examined the effects of different intensities of forest management on bird communities in the Bialowieza Forest, eastern Poland. Stands that had been managed for more than 100 years (cutting, planting, removal of dead wood and stands that were partially protected in nature reserves (sporadic sanitary cutting, removal of dead wood until 2008 were compared with unmanaged stands in the Bialowieza National Park by surveying the bird community during three breeding seasons (2010-2012. Surveys were conducted within three forest habitats: spruce-pine (Pino-Quercetum, lime-hornbeam (Tilio-Carpinetum and ash-alder (Fraxino-Alnetum. Results showed that habitat structure significantly affected the avian community. The basal area of live trees had a positive effect on abundance of birds, while the density of live trees had negative significant effect on bird abundance and species diversity. We also found significantly lower abundance of insectivorous birds and cavity-nesters in managed compared to unmanaged stands. Birds’ assembly in the spruce-pine and ash-alder stands were most sensitive to management. These results show both that management can be used to sustain bird communities, including species of conservation concern, and that inappropriate management may harm them.

  1. Systematic review on the health effects of exposure to radiofrequency electromagnetic fields from mobile phone base stations

    Directory of Open Access Journals (Sweden)

    Martin Röösli

    2010-12-01

    Full Text Available OBJECTIVE: To review and evaluate the recent literature on the health effects of exposure to mobile phone base station (MPBS radiation. METHODS: We performed a systematic review of randomized human trials conducted in laboratory settings and of epidemiological studies that investigated the health effects of MPBS radiation in the everyday environment. FINDINGS: We included in the analysis 17 articles that met our basic quality criteria: 5 randomized human laboratory trials and 12 epidemiological studies. The majority of the papers (14 examined self-reported non-specific symptoms of ill-health. Most of the randomized trials did not detect any association between MPBS radiation and the development of acute symptoms during or shortly after exposure. The sporadically observed associations did not show a consistent pattern with regard to symptoms or types of exposure. We also found that the more sophisticated the exposure assessment, the less likely it was that an effect would be reported. Studies on health effects other than non-specific symptoms and studies on MPBS exposure in children were scarce. CONCLUSION: The evidence for a missing relationship between MPBS exposure up to 10 volts per metre and acute symptom development can be considered strong because it is based on randomized, blinded human laboratory trials. At present, there is insufficient data to draw firm conclusions about health effects from long-term low-level exposure typically occurring in the everyday environment.

  2. The effects of gait with use of smartphone on repositioning error and curvature of the lumbar spine.

    Science.gov (United States)

    Yoon, Jeong-Oh; Kang, Min-Hyeok; Kim, Jun-Seok; Oh, Jae-Seop

    2015-08-01

    [Purpose] This study evaluated the effect of smartphone use on lumbar spine repositioning error and lumbar curvature while walking on a treadmill. [Subjects] A total of 20 healthy individuals (18 males and 2 females) volunteered for this study. [Methods] The subjects walked for 20?min on a treadmill while using a smartphone. To determine the effect of smartphone use, lumbar repositioning error was measured using an electronic goniometer while lumbar curvature was assessed using a Spinal Mouse before and immediately after treadmill use. Differences in the lumbar repositioning error and lumbar curvature data between the pre- and post-walking were compared using the paired t-test. [Results] The lumbar spine repositioning error was significantly greater post-walking compared with pre-walking (6.70±2.91° vs. 3.02±1.79°). There was no significant difference in lumbar curvature between pre- and post-walking (14.24±3.18° vs. 13.94±3.12°). [Conclusion] These findings indicate that the lumbar repositioning error increased immediately after walking while using a smartphone, but that the lumbar curvature was unchanged. PMID:26357430

  3. A relationship between the percentage of calcium by mass and the effective atomic number of regions containing bone

    International Nuclear Information System (INIS)

    In a mixture of elements such as those in bone where one element is prominent, a realistic estimate can be made of its mass fraction despite large variations of those of the lower atomic number elements. A relationship has been derived from which the percentage of calcium by mass present can be calculated from the effective atomic number as defined and determined by the dual energy technique. Error estimates in the experimental determination of Z* show that if the two effective energies are correct to +-2keV, with their difference correct to +-1 keV, and with no special care in the selection of the region of interest, the calcium percentage is calculable to +-13% for Z* values from about 10 up to 13.5. The error increases with decreasing Z* and is almost 19% at Z*=8, corresponding to calcium percentage of 2.2+-0.4. It is believed that these errors could be reduced by careful choice of region of interest, e.g., by taking large trabecular areas to reduce the standard error of measurement, or by selection of small cortical zones having low standard deviations of their CT numbers. (U.K.)

  4. The effect of multi-channel wide dynamic range compression, noise reduction, and the directional microphone on horizontal localization performance in hearing aid wearers.

    Science.gov (United States)

    Keidser, Gitte; Rohrseitz, Kristin; Dillon, Harvey; Hamacher, Volkmar; Carter, Lyndal; Rass, Uwe; Convery, Elizabeth

    2006-10-01

    This study examined the effect that signal processing strategies used in modern hearing aids, such as multi-channel WDRC, noise reduction, and directional microphones have on interaural difference cues and horizontal localization performance relative to linear, time-invariant amplification. Twelve participants were bilaterally fitted with BTE devices. Horizontal localization testing using a 360 degrees loudspeaker array and broadband pulsed pink noise was performed two weeks, and two months, post-fitting. The effect of noise reduction was measured with a constant noise present at 80 degrees azimuth. Data were analysed independently in the left/right and front/back dimension and showed that of the three signal processing strategies, directional microphones had the most significant effect on horizontal localization performance and over time. Specifically, a cardioid microphone could decrease front/back errors over time, whereas left/right errors increased when different microphones were fitted to left and right ears. Front/back confusions were generally prominent. Objective measurements of interaural differences on KEMAR explained significant shifts in left/right errors. In conclusion, there is scope for improving the sense of localization in hearing aid users. PMID:17062498

  5. Side Effects

    Science.gov (United States)

    ... 10, 2014 Select a Language: Fact Sheet 550 Side Effects WHAT ARE SIDE EFFECTS? WHO GETS SIDE EFFECTS? ... Don’t assume that you will get every side effect that’s listed! Most people have few or only ...

  6. Effect of trehalose on PC12 cells overexpressing wild-type or A53T mutant ?-synuclein.

    Science.gov (United States)

    Lan, Dan-Mei; Liu, Feng-Tao; Zhao, Jian; Chen, Yan; Wu, Jian-Jun; Ding, Zheng-Tong; Yue, Zhen-Yu; Ren, Hui-Min; Jiang, Yu-Ping; Wang, Jian

    2012-09-01

    Accumulation of ?-synuclein (?-Syn) is a common pathology for both familiar and sporadic Parkinson's disease (PD), enhancing its clearance might be a promising strategy for treating PD. To assess the potential of trehalose in this regard, we investigated its effect on the PC12 cells overexpressing wild type (WT) or A53T mutant ?-Syn and the implicated pathway it might mediated. We observed that trehalose promoted the clearance of A53T ?-Syn but not WT ?-Syn in PC12 cells, and confirmed the increased LC3 and Lysotracker RED positive autolysosomes by using lysotracker and LC3 staining, the enhanced expression of LC3-II in Western blot, and more autophagosomes under Transmission Electron Microscope in a dose dependent manner after the trehalose treatment. The activation of autophagy can be alleviated by applying macroautophagy inhibitor 3-methyladenine (3-MA). In addition, degradation of A53T and WT ?-Syn was blocked after Ubiquitin Proteasome System (UPS) inhibitor (MG132) was applied in those PC12 cells overexpressing A53T or WT ?-Syn, suggesting that A53T ?-Syn could be degraded by both UPS and macroautophagy. But the effect of trehalose on A53T ?-Syn is mainly mediated through the macroautophagy pathway, which is not a dominant way for WT ?-Syn clearance. Further in vivo research will be needed to verify the effectiveness of trehalose in treating PD. PMID:22707286

  7. Health effects

    International Nuclear Information System (INIS)

    This chapter discussed the topics related to the hazards and health effects in nuclear activities. The following subjects are discussed: 1) Hazards due to the ionising radiation exposure - radiation burns, radiation sickness, cancer, genetic effects, teratogenic effects; 2) Types of exposure - acute dose, chronic dose; 3) Biological damage - deterministic effect, stochastic effect

  8. Soil moisture effects on seasonal temperature and precipitation forecast scores in Europe

    Energy Technology Data Exchange (ETDEWEB)

    Hurk, Bart van den; Camargo, Helio [Royal Netherlands Meteorological Institute, KNMI, PO Box 201, AE De Bilt (Netherlands); Doblas-Reyes, Francisco [Catalan Institute of Climate Sciences (IC3), Barcelona (Spain); European Centre for Medium-range Weather Forecasts (ECMWF), Reading (United Kingdom); Balsamo, Gianpaolo [European Centre for Medium-range Weather Forecasts (ECMWF), Reading (United Kingdom); Koster, Randal D. [NASA/Goddard Space Flight Center, Global Modeling and Assimilation Office, Greenbelt, MD (United States); Seneviratne, Sonia I. [Institute for Atmospheric and Climate Science, Zurich (Switzerland)

    2012-01-15

    The Second Global Land Atmosphere Coupling Experiment (GLACE2) is designed to explore the improvement of forecast skill of summertime temperature and precipitation up to 8 weeks ahead by using realistic soil moisture initialization. For the European continent, we show in this study that for temperature the skill does indeed increase up to 6 weeks, but areas with (statistically significant) lower skill also exist at longer lead times. The skill improvement is smaller than shown earlier for the US, partly because of a lower potential predictability of the European climate at seasonal time scales. Selection of extreme soil moisture conditions or a subset of models with similar initial soil moisture conditions does improve the forecast skill, and sporadic positive effects are also demonstrated for precipitation. Using realistic initial soil moisture data increases the interannual variability of temperature compared to the control simulations in the South-Central European area at longer lead times. This leads to better temperature forecasts in a remote area in Western Europe. However, the covered range of forecast dates (1986-1995) is too short to isolate a clear physical mechanism for this remote correlation. (orig.)

  9. Effect of compatibilization and reprocessing on the isothermal crystallization kinetics of polypropylene/wood flour composites

    Scientific Electronic Library Online (English)

    Arieny, Rodrigues; Benjamim de M., Carvalho; Luís A., Pinheiro; Rosário E. S., Bretãs; Sebastião V., Canevarolo; Juliano, Marini.

    Full Text Available Numerous studies have focused on polymer mixtures aimed at the potential applications of these materials. This work analyzed the effect of polymer reprocessing and the type and concentration of compatibilizer on the isothermal crystallization kinetics of polypropylene/wood flour composites. The comp [...] osites, which were polypropylene grafted with acrylic acid (PP-g-AA) and maleic anhydride (PP-g-MA), were processed in a twin screw extruder with and without compatibilizer. Reprocessed polypropylene reached complete crystallization in less time than the composites with virgin polypropylene. The addition of wood flour to the composites did not change the kinetics significantly compared to that of the pure polymers, but the compatibilizers did, particularly PP-g-AA. The nucleation exponent (n) and crystallization rate (K) were calculated from Avrami plots. The values of n ranged from 2 to 3, indicating instantaneous to sporadic nucleation. The crystallization half-time of reprocessed polypropylene was shorter than that of virgin polypropylene and of the compositions containing PP-g-AA compatibilizer. The activation energy of crystallization and the equilibrium melting temperature were calculated, respectively, from Arrhenius and Hoffman-Weeks plots. Both of these parameters showed lower values in the composites, particularly in the ones containing compatibilizers.

  10. Formaldehyde, sodium hypochlorite, and metabisulphite are equally effective as sterilants for central delivery systems.

    Science.gov (United States)

    Besarab, A; DeLucia, T; Picarello, N; Jungkind, D

    1993-01-01

    Sterilants are used to disinfect reverse osmosis (RO) thin film composite membranes or peripheral loop water delivery systems. Formaldehyde (4.0% weight/volume) and metabisulphite (1.0%) were used to sterilize the RO and peripheral loop, and sodium hypochlorite (0.5%) was used to sterilize the peripheral loop with only acid/alkaline treatment of the RO; each sterilant was evaluated for 4 months. Sanitization at the machine was with sodium hypochlorite or glutaraldehyde. Quantitative RO processed water (weekly) and dialysate (4-6 from each station during the period of each sterilant) cultures were obtained. AAMI standards were used (sterilants. No difference among sterilants was noted in arithmetic or log10 mean colony counts. Sporadic low level gram positive and gram negative organism growth occurred with all sterilants. Continued "sterility" that met AAMI standards was obtained for 1 year, first with metabisulphite and then with acid/alkaline RO and sodium hypochlorite loop treatment. It is concluded that all three sterilants are effective for disinfection of hemodialysis delivery systems. Sodium hypochlorite is recommended because of its safety advantages and readily available test of adequate removal. PMID:8268606

  11. Effect of nadolol on liver haemodynamics and function in patients with cirrhosis.

    Science.gov (United States)

    Merkel, C; Sacerdoti, D; Finucci, G F; Zuin, R; Bazzerla, G; Bolognesi, M; Gatta, A

    1986-01-01

    Beta-adrenoceptor blockers used in the medical management of portal hypertension decrease liver blood flow. The sporadic onset of hepatic encephalopathy during propranolol treatment was ascribed to this decrease. The aim of the present study was to evaluate the effect of chronic treatment with nadolol on liver blood flow and liver function. Nadolol, a non-cardioselective beta-adrenoceptor blocker, has been reported to be as powerful as propranolol in decreasing portal pressure. Before and after 1 month of treatment with nadolol at a dose reducing heart rate by 25%, in 15 cirrhotic patients with portal hypertension, the following parameters were determined: hepatic venous pressure gradient, hepatic blood flow, galactose eliminating capacity, aminopyrine metabolic activity, ICG clearance and intrinsic hepatic clearance. Hepatic venous pressure gradient and hepatic blood flow were decreased by nadolol. However liver function was not affected by the drug. We conclude that, despite a lowered hepatic blood flow, liver function is not affected by 1 month of nadolol treatment. PMID:3741719

  12. Effect of compatibilization and reprocessing on the isothermal crystallization kinetics of polypropylene/wood flour composites

    Directory of Open Access Journals (Sweden)

    Arieny Rodrigues

    2013-01-01

    Full Text Available Numerous studies have focused on polymer mixtures aimed at the potential applications of these materials. This work analyzed the effect of polymer reprocessing and the type and concentration of compatibilizer on the isothermal crystallization kinetics of polypropylene/wood flour composites. The composites, which were polypropylene grafted with acrylic acid (PP-g-AA and maleic anhydride (PP-g-MA, were processed in a twin screw extruder with and without compatibilizer. Reprocessed polypropylene reached complete crystallization in less time than the composites with virgin polypropylene. The addition of wood flour to the composites did not change the kinetics significantly compared to that of the pure polymers, but the compatibilizers did, particularly PP-g-AA. The nucleation exponent (n and crystallization rate (K were calculated from Avrami plots. The values of n ranged from 2 to 3, indicating instantaneous to sporadic nucleation. The crystallization half-time of reprocessed polypropylene was shorter than that of virgin polypropylene and of the compositions containing PP-g-AA compatibilizer. The activation energy of crystallization and the equilibrium melting temperature were calculated, respectively, from Arrhenius and Hoffman-Weeks plots. Both of these parameters showed lower values in the composites, particularly in the ones containing compatibilizers.

  13. Understanding effects of armed conflict on health outcomes: the case of Nepal

    Directory of Open Access Journals (Sweden)

    van Teijlingen Edwin R

    2010-12-01

    Full Text Available Abstract Objective There is abundance of literature on adverse effects of conflict on the health of the population. In contrast to this, sporadic data in Nepal claim improvements in most of the health indicators during the decade-long armed conflict (1996-2006. However, systematic information to support or reject this claim is scant. This study reviews Nepal's key health indicators before and after the violent conflict and explores the possible factors facilitating the progress. Methods A secondary analysis has been conducted of two demographic health surveys-Nepal Family Health Survey (NFHS 1996 and Nepal Demographic and Health Survey (NDHS 2006; the latter was supplemented by a study carried out by the Nepal Health Research Council in 2006. Results The data show Nepal has made progress in 16 out of 19 health indicators which are part of the Millennium Development Goals whilst three indicators have remained static. Our analysis suggests a number of conflict and non-conflict factors which may have led to this success. Conclusion The lessons learnt from Nepal could be replicable elsewhere in conflict and post-conflict environments. A nationwide large-scale empirical study is needed to further assess the determinants of Nepal's success in the health sector at a time the country experienced a decade of armed conflict.

  14. Jupiter's decameter and kilometer emissions: satellite effects and long term periodicities

    Energy Technology Data Exchange (ETDEWEB)

    St. Cyr, O.C.

    1985-01-01

    Results of observational studies of Jupiter's decameter (DAM) and kilometer (KOM) radio emissions are presented. The initial goal was to investigate the role of Jupiter's major satellites in modulating these sporadic emissions. Concepts of electromagnetic induction in planet-sized bodies are reviewed and the Jovian magnetosphere environment and the physical characteristics of the Galilean satellites and Amalthea are described. Since the phase of Io is known to modulate the DAM emissions, the author addresses the problem of orbital resonance among the Galilean satellites. When IO's influence in the emissions is eliminated from more than two decades of ground-based observation, no significant enhancements or deficiencies in the detection probability were found for the phases of Europa, Ganymede, or Callisto. A secondary goal was to search for long term periodicities and other effects in the ground-based DAM data. As expected, a strong tendency toward an increase or decrease, respectively, in D/sub E/ was found.

  15. Detecting the ecological effects of environmental impacts: A case study of kelp forest invertebrates

    Energy Technology Data Exchange (ETDEWEB)

    Schroeter, S.C.; Dixon, J.D. (Ecometrics, Carlsbad, CA (United States) Univ. of Southern California, Los Angeles, CA (United States)); Kastendiek, J. (James Madison Univ., Harrisonburg, VA (United States) Univ. of Southern California, Los Angeles, CA (United States)); Smith, R.O. (Science Explorations, Carlsbad, CA (United States) Univ. of Southern California, Los Angeles, CA (United States)); Bence, J.R. (Univ. of California, Santa Barbara, CA (United States))

    1993-05-01

    Detecting the environmental impacts of human activities on natural communities is a central problem in applied ecology. One must separate human perturbations, usually unique events, from considerable natural temporal variability in most populations. These problems can be successfully addressed with the Before-After/Control-Impact (BACI) sampling design, in which Impact and Control sites are sampled contemporaneously and repeatedly in periods Before and After the human perturbation. In this case, the ecological effects of the cooling water discharge from a coastal nuclear power plant in southern California was examined. The results suggest some general lessons applicable in many ecological contexts. In systems where plants and animals are long-lived and recruit sporadically, the rates of change in density are often so low that sampling more than a few times per year will introduce serial correlations in the data. As a result, for studies of few years duration, few samples will be taken. A small sample size means that the tests of the underlying assumptions underlying, e.g., independence and additivity, will have low power. This injects uncertainty into the conclusions. Small sample size also means detecting any but very large effects will be low. In our study, sampling periods of 2-3 yr both Before and After the impact were not long enough to detect a halving or doubling of populations. We concluded that there were significant environmental impacts because: (1) the effect size was generally very large ([approx] -75%); (2) there was a consistent pattern among species; (3) there were two Impact sites, and effects were larger at the site nearest the discharge; (4) the observed effects accorded with physical changes that could be linked with the source of impact; and (5) a number of alternative mechanisms, unrelated to the source of impact, were examined and rejected. 37 figs., 6 figs., 10 tabs.

  16. The November 23, 1980 Irpinia earthquake (Terremoto Campano Lucano) observations of soil and soil-structure interaction effects

    International Nuclear Information System (INIS)

    A catastrophe of major dimensions such as the November 23, 1980 Irpinia Earthquake (Terremoto Campano Lucano) should be examined from different points of view, e.g. geological engineering, architectural, rural and urban planning, socio-economical, so that the effects of future events can be mitigated to a certain extent. This paper covers a portion of the engineering lessons to be drawn from this event. These efforts have been directed to bring out cases and observations which may have significance in the siting and design of nuclear power plants. The Irpinia Earthquake caused widespread damage in a region of southern Italy which is developing in terms of industrial and transportation facilities. It was, therefore, possible to observe damage (or the lack of it) on a wide variety of structures, such as buildings, bridges, tunnels, roads and chimneys ranging in age from very old to very new. The seven-day field trip took place at the end of January 1981, about two months after the earthquake. With few sporadic exceptions, such as the hospital building in S. Angelo dei Lombardi, the damaged structures were untouched and reliable engineering observations on the damage patterns were possible. One of the most striking aspects of the earthquake was the extent of the damage caused to structures by soil failures or soil-structure interaction effects. This aspect, in particular, is addressed in this paper. (orig.)

  17. High concentrations of protein test substances may have non-toxic effects on Daphnia magna: implications for regulatory study designs and ecological risk assessments for GM crops.

    Science.gov (United States)

    Raybould, Alan; Burns, Andrea; Hamer, Mick

    2014-01-01

    Laboratory testing for possible adverse effects of insecticidal proteins on non-target organisms (NTOs) is an important part of many ecological risk assessments for regulatory decision-making about the cultivation of insect-resistant genetically modified (IRGM) crops. To increase confidence in the risk assessments, regulatory guidelines for effects testing specify that representative surrogate species for NTOs are exposed to concentrations of insecticidal proteins that are in excess of worst-case predicted exposures in the field. High concentrations in effects tests are achieved by using protein test substances produced in microbes, such as Escherichia coli. In a study that exposed Daphnia magna to a single high concentration of a microbial test substance containing Vip3Aa20, the insecticidal protein in MIR162 maize, small reductions in growth were observed. These effects were surprising as many other studies strongly suggest that the activity of Vip3Aa20 is limited to Lepidoptera. A plausible explanation for the effect on growth is that high concentrations of test substance have a non-toxic effect on Daphnia, perhaps by reducing its feeding rate. A follow-up study tested that hypothesis by exposing D. magna to several concentrations of Vip3Aa20, and a high concentration of a non-toxic protein, bovine serum albumin (BSA). Vip3Aa20 and BSA had sporadic effects on the reproduction and growth of D. magna. The pattern of the effects suggests that they result from non-toxic effects of high concentrations of protein, and not from toxicity. The implications of these results for regulatory NTO effects testing and ERA of IRGM crops are discussed. PMID:25523175

  18. Effect of instantaneous rotational speed on the analysis of measured diesel engine cylinder pressure data

    International Nuclear Information System (INIS)

    Highlights: ? The effect of in-cycle speed fluctuation on cylinder pressure measurement is investigated. ? A phasing error is introduced when sampling cylinder pressure at constant time intervals. ? The phasing error increases with the increase of engine load and decrease of engine speed. ? Measurement using constant sampling rate affects estimation of HRR, ignition angle etc. - Abstract: Diesel engine cylinder pressure measurements are widely used in field and lab applications to support among other control, monitoring and diagnostic applications. There are two methods to measure cylinder pressure, the use of a crank angle encoder, which guarantees pressure samples at fixed crank angles, and the use of constant time sampling rate. The last is frequently used due to its simplicity or because of practical restrictions. However, in order to perform thermodynamic calculations it is necessary to attribute a crank angle value to each measured pressure value. But if the in-cycle rotational speed fluctuates and this is neglected, an error will result in the values derived from the processing of the measured cylinder pressure. For this reason in the present work an experimental investigation is conducted on a single cylinder diesel test engine to identify the aforementioned problem. During the tests cylinder pressure and instantaneous speed were recorded using an accurate crank angle reference. These where then used to simulate the measurement of cylinder pressure digitized using a fixed time step. The comparison of the two cylinder pressure traces and the thermodynamic parameters derived from them, reveals the introduction of an error which depends on engine load and speed.

  19. Health Effects

    Science.gov (United States)

    ... on Facebook Tweet Share Compartir The information on health effects has been excerpted from the Third National Climate Assessment’s Health Chapter . Additional information regarding the health effects of climate change and references to supporting literature ...

  20. Health Effects

    Science.gov (United States)

    ... SfT Campaigns Health Effects Now Later Quit Brain Addiction wired In adolescence, your brain is still “under construction”—as a result, it responds differently to the effects of nicotine than the adult brain. Nicotine is the drug ...

  1. Hormonal status and age differentially affect tolerance to the disruptive effects of delta-9-tetrahydrocannabinol (?9-THC) on learning in female rats

    Science.gov (United States)

    Winsauer, Peter J.; Filipeanu, Catalin M.; Weed, Peter F.; Sutton, Jessie L.

    2015-01-01

    The effects of hormone status and age on the development of tolerance to ?9-THC were assessed in sham-operated (intact) or ovariectomized (OVX) female rats that received either intraperitoneal saline or 5.6 mg/kg of ?9-THC daily from postnatal day (PD) 75–180 (early adulthood onward) or PD 35–140 (adolescence onward). During this time, the four groups for each age (i.e., intact/saline, intact/THC, OVX/saline, and OVX/THC) were trained in a learning and performance procedure and dose-effect curves were established for ?9-THC (0.56–56 mg/kg) and the cannabinoid type-1 receptor (CB1R) antagonist rimonabant (0.32–10 mg/kg). Despite the persistence of small rate-decreasing and error-increasing effects in intact and OVX females from both ages during chronic ?9-THC, all of the ?9-THC groups developed tolerance. However, the magnitude of tolerance, as well as the effect of hormone status, varied with the age at which chronic ?9-THC was initiated. There was no evidence of dependence in any of the groups. Hippocampal protein expression of CB1R, AHA1 (a co-chaperone of CB1R) and HSP90? (a molecular chaperone modulated by AHA-1) was affected more by OVX than chronic ?9-THC; striatal protein expression was not consistently affected by either manipulation. Hippocampal brain-derived neurotrophic factor expression varied with age, hormone status, and chronic treatment. Thus, hormonal status differentially affects the development of tolerance to the disruptive effects of delta-9-tetrahydrocannabinol (?9-THC) on learning and performance behavior in adolescent, but not adult, female rats. These factors and their interactions also differentially affect cannabinoid signaling proteins in the hippocampus and striatum, and ultimately, neural plasticity. PMID:26191005

  2. Match Effects

    OpenAIRE

    Woodcock, Simon

    2006-01-01

    We present an empirical model of earnings that controls for observable and unobservable characteristics of workers (person effects), unmeasured characteristics of their employers (firm effects), and unmeasured characteristics of worker-firm matches (match effects). We interpret these as the returns to general human capital, firm-specific human capital, and match-specific human capital, respectively. We stress the importance of match effects because the returns to match-specific human capital ...

  3. The clinical effects of closure of the hernia gap after laparoscopic ventral hernia repair : protocol for a randomised controlled trial

    DEFF Research Database (Denmark)

    Christoffersen, Mette W; Westen, Mikkel

    2014-01-01

    INTRODUCTION: Closure of the hernia gap in laparoscopic ventral hernia repair before mesh reinforcement has gained increasing acceptance among surgeons despite creating a tension-based repair. Beneficial effects of this technique have been reported sporadically, but no evidence is available from randomised controlled trials. The primary purpose of this paper is to compare early post-operative activity-related pain in patients undergoing laparoscopic ventral hernia repair with closure of the gap with patients undergoing standard laparoscopic ventral hernia repair (non-closure of the gap). Secondary outcomes are patient-rated cosmesis and hernia-specific quality of life. METHODS: A randomised, controlled, double-blinded study is planned. Based on power calculation, we will include 40 patients in each arm. Patients undergoing elective laparoscopic umbilical, epigastric or umbilical trocar-site hernia repair at Hvidovre Hospital and Herlev Hospital, Denmark, are invited to participate. CONCLUSION: The gap closure technique may induce more post-operative pain than the non-closure repair, but it may also be superior with regard to other important surgical outcomes. No studies have previously investigated closure of the gap in the setting of a randomised controlled trial. FUNDING: The study is funded by The University of Copenhagen and private foundations. TRIAL REGISTRATION: NCT01962480 (clinicaltrials.gov).

  4. The clinical effects of closure of the hernia gap after laparoscopic ventral hernia repair: : protocol for a randomised controlled trial

    DEFF Research Database (Denmark)

    Christoffersen, Mette W; Westen, Mikkel

    2014-01-01

    INTRODUCTION: Closure of the hernia gap in laparoscopic ventral hernia repair before mesh reinforcement has gained increasing acceptance among surgeons despite creating a tension-based repair. Beneficial effects of this technique have been reported sporadically, but no evidence is available from randomised controlled trials. The primary purpose of this paper is to compare early post-operative activity-related pain in patients undergoing laparoscopic ventral hernia repair with closure of the gap with patients undergoing standard laparoscopic ventral hernia repair (non-closure of the gap). Secondary outcomes are patient-rated cosmesis and hernia-specific quality of life. METHODS: A randomised, controlled, double-blinded study is planned. Based on power calculation, we will include 40 patients in each arm. Patients undergoing elective laparoscopic umbilical, epigastric or umbilical trocar-site hernia repair at Hvidovre Hospital and Herlev Hospital, Denmark, are invited to participate. CONCLUSION: The gap closure technique may induce more post-operative pain than the non-closure repair, but it may also be superior with regard to other important surgical outcomes. No studies have previously investigated closure of the gap in the setting of a randomised controlled trial. FUNDING: The study is funded by The University of Copenhagen and private foundations. TRIAL REGISTRATION: NCT01962480 (clinicaltrials.gov).

  5. Effect of estrone on somatic and female gametophyte cell division and differentiation in Arabidospis thaliana cultured in vitro

    Directory of Open Access Journals (Sweden)

    Piotr ?abicki

    2014-04-01

    Full Text Available The aim of the study was to determine the effect of the mammalian female sex hormone estrone on differentiation of somatic tissues and on induction of autonomous endosperm in culture of female gametophyte cells of Arabidopsis thaliana ecotype Columbia (Col-0. In culture, estrone-stimulated development of autonomous endosperm (AE occurred in 14.7% of unpollinated pistils. The AE represented development stages similar to those of young endosperm after fertilization and AE of fis mutants in vivo. In the majority of ovules the AE was in a few-nucleate young stage. Some ovules showed more advanced stages of AE development, with nuclei and cytoplasm forming characteristic nuclear cytoplasmic domains (NCDs. Sporadically, AE was divided into regions characteristic for Arabidopsis endosperm formed after fertilization. Direct organogenesis (caulogenesis, rhizogenesis, callus proliferation and formation of trichome-like structures were observed during in vitro culture of hypocotyls and cotyledons of 3-day-old seedlings cultured on medium supplemented with estrone for 28 days. Histological analysis showed adventitious root formation and changes in explant anatomy caused by estrone.

  6. Effectiveness of topical chlorhexidine powder as an alternative to hexachlorophane for the control of Staphylococcus aureus in neonates.

    Science.gov (United States)

    Wilcox, M H; Hall, J; Gill, A B; Fawley, W N; Parnell, P; Verity, P

    2004-02-01

    We routinely phage-type Staphylococcus aureus isolates from high-risk inpatients each week. This surveillance approach previously identified a five-year outbreak of a methicillin-susceptible S. aureus strain (MSSA, PT 53,85), which affected 202 babies on a regional neonatal unit. We previously reported this outbreak and the multiple staged infection control measures that were required to end it. These included strict emphasis on hand hygiene, environmental and staff surveillance sampling, application of topical triclosan solution and hexachlorophane powder, aseptic handling of a skin protectant material, and use of topical mupirocin for staff nasal carriers of the endemic MSSA strain and for babies colonized or infected with S. aureus. In summer 2000 topical hexachlorophane powder became unavailable and we therefore substituted topical 1% chlorhexidine powder as part of routine umbilical decontamination. We have continued prospective S. aureus surveillance for the past five years to monitor the effect of this practice change. We observed a continued decline in the numbers of monthly MSSA isolates from neonatal unit babies. Since the substitution of chlorhexidine for hexachlorophane, the median monthly number of MRSA isolates has been 0.5 (range 0-4). Only sporadic S. aureus PT 53,85 isolates were recovered. Control of S. aureus in our regional neonatal unit, in particular an endemic MSSA strain, was maintained when topical umbilical hexachlorophane powder was substituted with 1% chlorhexidine powder. PMID:15019229

  7. Systems effectiveness

    CERN Document Server

    Habayeb, A R

    1987-01-01

    Highlights three principal applications of system effectiveness: hardware system evaluation, organizational development and evaluation, and conflict analysis. The text emphasizes the commonality of the system effectiveness discipline. The first part of the work presents a framework for system effectiveness, partitioning and hierarchy of hardware systems. The second part covers the structure, hierarchy, states, functions and activities of organizations. Contains an extended Appendix on mathematical concepts and also several project suggestions.

  8. Distribution of molecular markers in sporadic colorectal cancer, adjacent and distant mucosa.

    Czech Academy of Sciences Publication Activity Database

    Fri?, P.; Sovová, Vlasta; Roth, Z.; Šloncová, Eva; Kocna, P.; Jirásek, A.; ?ermák, J.

    2004-01-01

    Ro?. 2, ?. 2 (2004), s. 62-71 R&D Projects: GA ?R GV312/96/K205; GA MZd IZ4217 Institutional research plan: CEZ:AV0Z5052915 Keywords : colorectal cancer * molecular markers * adjacent and distant mucosa Subject RIV: EB - Genetics ; Molecular Biology

  9. Doença de Alzheimer esporádica de início precoce / Sporadic early onset Alzheimer´s disease

    Scientific Electronic Library Online (English)

    Annibal, Truzzi; Jerson, Laks.

    Full Text Available A doença de Alzheimer (DA) é a principal causa de demência. Um subgrupo de pacientes apresenta sua forma familiar ou precoce ([...] sem história familiar de DA, que apresentou precocemente alterações de memória e progressivo declínio funcional e cognitivo (linguagem, praxia, funções executivas e habilidades visuoespaciais). Sintomas psicológicos (depressão) e comportamentais (insônia, agitação psicomotora e hipersexualidade) da DA também foram observados em diferentes estágios da doença. Exames de neuroimagem estrutural e funcional revelaram acometimento das regiões corticais posteriores. A precocidade do início da DA pode ser confundida com quadros psiquiátricos, especialmente quando não há história familiar da doença. O impacto do início pré-senil na vida do paciente e da família é intenso e o tratamento nos estágios iniciais é de suma importância para reduzir a sobrecarga de cuidadores e pacientes. Abstract in english Alzheimer's disease (AD) is the main cause of dementia. A subgroup of patients has the familial or early-onset ([...] ed early memory problems and progressive functional and cognitive (speech, praxis, executive functions e viso-spatial habilities) decline. Behavioural (imnsonia, psychomotor agitation and hypersexuality) and psychological (depression) symptoms of AD were noticed in different stages of the disease. Structural and functional neuroimaging techniques showed impairment of posterior cortical areas. Early onset AD can be confounded with psychiatric disorders especially when there is no familiar history for AD. The presenile impact on both patient and family is intense and treatment in the early stages is very important to reduce patient and caregivers' burden.

  10. Drug resistance profiles and clonality of sporadic Shigella sonnei isolates in Ankara, Turkey

    Scientific Electronic Library Online (English)

    Birgul, Kacmaz; Ozlem, Unaldi; Nedim, Sultan; Riza, Durmaz.

    2014-09-01

    Full Text Available The aims of this study were to investigate drug resistance rates, types of extended spectrum beta lactamases (ESBLs), and molecular epidemiological characteristics of 43 Shigella sonnei isolates. Ampicillin-sulbactam, amoxicillin-clavulanate, chloramphenicol, and ciprofloxacin were the most active a [...] ntibiotics. Five isolates harbored blaSHV-12, blaTEM-1 and blaCTX-M-15. More than 90% of the isolates had an indistinguishable pulsotype.

  11. Outbreaks and sporadic cases of Salmonella serovar panama studied by DNA fingerprinting and antimicrobial resistance.

    Science.gov (United States)

    Soto, S M; Guerra, B; del Cerro, A; González-Hevia, M A; Mendoz, M C

    2001-12-01

    In the Principality of Asturias (PA), Spain. three Salmonella serovar Panama outbreaks were registered in August 1998. In order to achieve an accurate identification of the strains implicated in the outbreaks and to study the molecular epidemiology of this serovar in the PA, the isolates collected over 1990-1999 were examined by DNA fingerprinting and antimicrobial resistance analysis. The origin of the isolates was: human (65, of which 20 were associated with the three outbreaks), octopus (2), beef (2), eggs (7), poultry faeces (2), sea water (5), sewage (2) and unknown (1). Sixteen lineages were defined by ribotyping, enterobacterial repetitive intergenic consensus sequences analysis, and randomly amplified polymorphic DNA segment analysis. One lineage was endemic in the PA and was also represented by isolates from other Spanish regions. The organisms of this lineage can be differentiated (by resistance-, plasmid- and integron-profiles) into 19 types. The three outbreaks were caused by organisms falling into a single type (nalidixic acid-resistant, plasmid- and integron-free) belonging to the endemic lineage, which was associated with poultry as the reservoir. Isolates showing drug-resistance (71%) fell into six lineages and 23 types. Ten multidrug-resistant types carried class I integrons with three types of variable regions containing resistance gene cassettes. PMID:11764890

  12. Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas

    International Nuclear Information System (INIS)

    The association between colorectal cancer (CRC) and smoking has not been consistent. Incomplete smoking history and association to a specific subset of CRC tumors have been proposed as explanations. The adenomatous polyposis coli (APC) gene has been reported to have a 'gatekeeper' function in the colonic mucosa. To evaluate the hypothesis that cigarette smoking is associated with adenoma and carcinoma development and further to investigate whether this association is due to mutations in the APC gene, we used a study population consisting of 133 cases (45 adenomas and 88 carcinomas) and 334 controls. All tumors were sequenced in the mutation cluster region (MCR) of the APC gene. Cases and controls were drawn from a homogeneous cohort of Norwegian origin. The mutational spectra of the APC gene revealed no difference in frequencies of mutations in cases based on ever and never smoking status. An overall case-control association was detected for adenomas and 'ever smoking' OR = 1.73 (95% CI 0.83–3.58). For CRC cases several smoking parameters for dose and duration were used. We detected an association for all smoking parameters and 'duration of smoking > 30 years', yielded a statistically significant OR = 2.86 (1.06–7.7). When cases were divided based on APC truncation mutation status, an association was detected in adenomas without APC mutation in relation to 'ever smoking', with an OR = 3.97 (1.26–12.51). For CRC cases without APC mutation 'duration of smoking > 30 years', yielded a statistically significant OR = 4.06 (1.20–13.7). The smoking parameter 'starting smoking ? 40 years ago' was only associated with CRC cases with APC mutations, OR = 2.0 (0.34–11.95). A case-case comparison revealed similar findings for this parameter, OR = 2.24 (0.73–6.86). Our data suggest an association between smoking and adenoma and CRC development. This association was strongest for cases without APC truncation mutation. This may implicate other factors in development of these tumors. The association detected between smoking and CRC cases with APC mutation was in relationship to the smoking parameter 'starting smoking ? 40 years ago', a time period long enough to proceed CRC initiation

  13. BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases

    OpenAIRE

    Nancy Uhrhammer, Amina Abdelouahab, Laurence Lafarge, Viviane Feillel, Ahmed Ben Dib, Yves-Jean Bignon

    2008-01-01

    Breast cancer rates and median age of onset differ between Western Europe and North Africa. In Western populations, 5 to 10 % of breast cancer cases can be attributed to major genetic factors such as BRCA1 and BRCA2, while this attribution is not yet well defined among Africans. To help determine the contribution of BRCA1 mutations to breast cancer in a North African population, we analysed genomic DNA from breast cancer cases ascertained in Algiers. Both familial cases (at least three breast...

  14. BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases

    OpenAIRE

    Uhrhammer, Nancy; Abdelouahab, Amina; Lafarge, Laurence; Feillel, Viviane; Dib, Ahmed Ben; Bignon, Yves-Jean

    2008-01-01

    Breast cancer rates and median age of onset differ between Western Europe and North Africa. In Western populations, 5 to 10 % of breast cancer cases can be attributed to major genetic factors such as BRCA1 and BRCA2, while this attribution is not yet well defined among Africans. To help determine the contribution of BRCA1 mutations to breast cancer in a North African populati...

  15. XPC Lys939Gln polymorphism, smoking and risk of sporadic colorectal cancer among Malaysians

    Directory of Open Access Journals (Sweden)

    Abdul Aziz Ahmad Aizat

    2013-01-01

    Full Text Available AIM: To investigate the risk association of xeroderma pigmentosum group C (XPC Lys939Gln polymorphism alone and in combination with cigarette smoking on colorectal cancer (CRC predisposition. METHODS: Peripheral blood samples of 510 study subjects (255 CRC patients, 255 controlswere collected. DNA was extracted and genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism. The association between polymorphic genotype and CRC predisposition was determined using the OR and 95%CI. RESULTS: The frequency of the homozygous variant (Gln/Gln genotype was significantly higher in cases compared with controls (16.0% vs 10.2%, P = 0.049. The Gln/Gln genotype of XPC showed a significantly higher association with the risk of CRC (OR = 1.884; 95%CI: 1.082-3.277; P = 0.025. In the case of allele frequencies, variant allele C was associated with a significantly increased risk of CRC (OR = 1.375; 95%CI: 1.050-1.802; P = 0.020. Moreover, the risk was markedly higher for those who were carriers of the Gln/Gln variant genotype and were also cigarette smokers (OR = 3.409; 95%CI: 1.061-10.949; P = 0.032. CONCLUSION: The XPC Gln/Gln genotype alone and in combination with smoking increases the risk of CRC among Malaysians.

  16. Mutational analysis of PRKAR1A and Gs(alpha) in sporadic adrenocortical tumors.

    Science.gov (United States)

    Libé, R; Mantovani, G; Bondioni, S; Lania, A G; Pedroni, C; Beck-Peccoz, P; Spada, A

    2005-05-01

    Little is known about the pathogenesis of adrenocortical tumors. The cAMP-dependent pathway is physiologically activated by ACTH in adrenocortical cells and different components of this cascade may be altered in some functioning adrenocortical tumors. Recently, mutations of the gene encoding th