WorldWideScience

Sample records for sporadic error-increasing effects

  1. Neuroprotective effect of cyclooxygenase inhibitors in ICV-STZ induced sporadic Alzheimer's disease in rats.

    Science.gov (United States)

    Dhull, Dinesh Kumar; Jindal, Ankur; Dhull, Rakesh K; Aggarwal, Saurabh; Bhateja, Deepak; Padi, Satyanarayana S V

    2012-01-01

    Sporadic Alzheimer's disease is an age-related neurological and psychiatric disorder characterized by impaired energy metabolism. Oxidative stress and neuroinflammation have been implicated in pathophysiology of sporadic type of dementia. The central streptozotocin administration induces behavioral and biochemical alterations resembling those in sporadic type of Alzheimer's patients. The present study was designed to investigate the effects of chronic pretreatment with cyclooxygenase-1 or cyclooxygenase-2 or cyclooxygenase-3 selective inhibitors on cognitive dysfunction and oxidative stress markers in intracerebroventricular streptozotocin-treated rats. Chronic treatment with valeryl salicylate (5 and 10 mg/kg, i.p.) and etoricoxib (5 and 10 mg/kg, i.p.) on a daily basis for a period of 21 days, beginning 1 h prior to first intracerebroventricular streptozotocin injection, significantly improved streptozotocin-induced cognitive impairment. However, phenacetin (20 and 40 mg/kg, i.p.) failed to restore the cognitive performances of streptozotocin-treated rats. Besides, improving cognitive dysfunction, chronic administration of highly selective cyclooxygenase-1 and/or cyclooxygenase-2 inhibitors (valeryl salicylate and etoricoxib, respectively), but not cyclooxygenase-3 inhibitor (phenacetin), significantly reduced elevated malondialdehyde, nitrite levels, and restored reduced glutathione and superoxide dismutase levels. Furthermore, cyclooxygenase-1 and/or cyclooxygenase-2 inhibitors significantly increased the survival of pyramidal neurons. In summary, we demonstrate for the first time that both cyclooxygenase-1 and cyclooxygenase-2 isoforms, but not cyclooxygenase-3, are involved in the progression of neuronal damage in intracerebroventricular streptozotocin-treated rats. PMID:21701788

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

    Directory of Open Access Journals (Sweden)

    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.

  3. Introduction to Sporadic Groups

    Directory of Open Access Journals (Sweden)

    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.

  4. Sporadic and Exceptional

    OpenAIRE

    He, Yang-Hui; McKay, John

    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.

  5. Beneficial effects of melatonin in a rat model of sporadic Alzheimer's disease.

    Science.gov (United States)

    Rudnitskaya, Ekaterina A; Maksimova, Kseniya Yi; Muraleva, Natalia A; Logvinov, Sergey V; Yanshole, Lyudmila V; Kolosova, Nataliya G; Stefanova, Natalia A

    2015-06-01

    Melatonin synthesis is disordered in patients with Alzheimer's disease (AD). To determine the role of melatonin in the pathogenesis of AD, suitable animal models are needed. The OXYS rats are an experimental model of accelerated senescence that has also been proposed as a spontaneous rat model of AD-like pathology. In the present study, we demonstrate that disturbances in melatonin secretion occur in OXYS rats at 4 months of age. These disturbances occur simultaneously with manifestation of behavioral abnormalities against the background of neurodegeneration and alterations in hormonal status but before the signs of amyloid-? accumulation. We examined whether oral administration of melatonin could normalize the melatonin secretion and have beneficial effects on OXYS rats before progression to AD-like pathology. The results showed that melatonin treatment restored melatonin secretion in the pineal gland of OXYS rats as well as the serum levels of growth hormone and IGF-1, the level of BDNF in the hippocampus and the healthy state of hippocampal neurons. Additionally, melatonin treatment of OXYS rats prevented an increase in anxiety and the decline of locomotor activity, of exploratory activity, and of reference memory. Thus, melatonin may be involved in AD progression, whereas oral administration of melatonin could be a prophylactic strategy to prevent or slow down the progression of some features of AD pathology. PMID:25515660

  6. Effects of Active Constituents of Crocus sativus L., Crocin on Streptozocin-Induced Model of Sporadic Alzheimer's Disease in Male Rats

    OpenAIRE

    Khalili, Mohsen; Hamzeh, Faezeh

    2010-01-01

    Background: The involvement of water-soluble carotenoids, crocins, as the main and active components of Crocus sativus L. extract in learning and memory processes has been proposed. In the present study, the effect of crocins on sporadic Alzheimer's disease induced by intracerebroventricular (icv) streptozocin (STZ) in male rats was investigated. Methods: Male adult Wistar rats (n = 90 and 260-290 g) were divided into 1, control; 2 and 3, crocins (15 and 30 mg/kg); 4, STZ; 5 and 6, STZ + croc...

  7. 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.

  8. 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

    Directory of Open Access Journals (Sweden)

    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.

  9. 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

  10. Giant aneurysm formation in sporadic renal angiomyolipoma

    OpenAIRE

    Patil, Aruna R.; Chandra, Ranjan; Gupta, Ashwani; Thukral, Brij Bhushan

    2010-01-01

    Angiomyolipomas are the most common mesenchymal renal neoplasms. Two types have been described: (i) sporadic angiomyolipoma and (ii) angiomyolipoma associated with tuberous sclerosis. Giant aneurysm formation is usually noted in angiomyolipomas associated with tuberous sclerosis and is rare in sporadic variety. Tumor diameter and aneurysm diameter have been used as predictors of rupture. We report a rare case of aneurysm formation in a sporadic angiomyolipoma.

  11. Genetics Home Reference: Sporadic hemiplegic migraine

    Science.gov (United States)

    ... are some genetic conditions more common in particular ethnic groups? These links provide additional genetics ... sensitivity ; sporadic ; stress ; trauma You may find definitions for these and ...

  12. 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.)

  13. Effects of sporadic E-layer characteristics on spread-F generation in the nighttime ionosphere near a northern equatorial anomaly crest during solar minimum

    Science.gov (United States)

    Lee, C. C.; Chen, W. S.

    2015-06-01

    This study is to know how the characteristics of sporadic E-layer (Es-layer) affect the generation of spread-F in the nighttime ionosphere near the crest of equatorial ionization anomaly during solar minimum. The data of Es-layer parameters and spread-F are obtained from the Chungli ionograms of 1996. The Es-layer parameters include foEs (critical frequency of Es-layer), fbEs (blanketing frequency of Es-layer), and ?f (?foEs-fbEs). Results show that the nighttime variations of foEs and fbEs medians (?f medians) are different from (similar to) that of the occurrence probabilities of spread-F. Because the total number of Es-layer events is greater than that of spread-F events, the comparison between the medians of Es-layer parameters and the occurrence probabilities of spread-F might have a shortfall. Further, we categorize the Es-layer and spread-F events into each frequency interval of Es-layer parameters. For the occurrence probabilities of spread-F versus foEs, an increasing trend is found in post-midnight of all three seasons. The increasing trend also exists in pre-midnight of the J-months and in post-midnight of all seasons, for the occurrence probabilities of spread-F versus ?f. These demonstrate that the spread-F occurrence increases with increasing foEs and/or ?f. Moreover, the increasing trends indicate that polarization electric fields generated in Es-layer assist to produce spread-F, through the electrodynamical coupling of Es-layer and F-region. Regarding the occurrence probabilities of spread-F versus fbEs, the significant trend only appears in post-midnight of the E-months. This implies that fbEs might not be a major factor for the spread-F formation.

  14. 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.

  15. Absolute Alcohol Embolization of Sporadic Angiomyolipoma

    OpenAIRE

    Cantwell, Colin P.; Taubman, Kevin E.; Scorza, Leslie B.

    2008-01-01

    Angiomyolipoma is a benign hamartoma. Seventy percent of angiomyolipomas occur sporadically in the general population and the remainder are associated with a syndrome. Of patients with tuberous sclerosis, 60 to 80% have an angiomyolipoma. Sporadic angiomyolipomas tend to be single and occur in an older age group. In tuberous sclerosis, the lesions are usually bilateral and multiple. Therapy is indicated when there are symptoms or when the lesion is greater than 4 cm. Criteria for further embo...

  16. / Sporadic oral angiomyolipoma: Case report

    Scientific Electronic Library Online (English)

    Carlos, Álvarez Alvarez; Jacinto, Fernández Sanromán; Manuel, Fernández Castilla; Iosu, Antón Badiola.

    2007-09-01

    Full Text Available El angiomiolipoma (AML) es un tumor benigno infrecuente compuesto por una proporción variable de lipocitos, músculo liso y vasos de paredes gruesas. Forma parte de la familia de tumores originados en las células epitelioides perivasculares (PEComas), y muchos casos se asocian a esclerosis tuberosa, [...] siendo el riñón la localización más frecuente. Presentamos un caso de AML esporádico en el paladar duro de un varón de 52 años, una localización extremadamente rara para este tumor. El diagnóstico diferencial con otras lesiones mesenquimales tanto benignas como malignas de la zona se basa en la identificación histológica de los 3 componentes, siendo de ayuda las tinciones inmunohistoquímicas. Los AMLs localizados en cabeza y cuello no expresan HMB-45, un anticuerpo que identifica melanosomas inmaduros, mientras que los renales y hepáticos sí lo hacen, lo que sugiere que existen diferencias entre ambos AMLs. El tratamiento de elección es la exéresis quirúrgica completa, ya que estos tumores suelen tener un comportamiento benigno. Abstract in english Angiomyolipoma (AML) is a rare, benign tumour composed of a variable proportion of lipocytes, smooth muscle and thick-walled blood vessels. AML is part of a family of tumours arising from perivascular epithelioid cells (PEComas), and many cases are associated with tuberous sclerosis, with the kidney [...] being the most frequent site involved. We report a case of sporadic AML in the hard palate of a 52-year-old male, an extremely unusual location for this tumour. Differentiation from other benign and malignant oral mesenchymal lesions depends on recognition of the three histologic components, and immunohistochemical techniques may be helpful. AML occurring in the head and neck do not express HMB-45, an antibody that identifies immature melanosomes, conversely to the usual immunopositivity shown in AMLs from kidney and liver, suggesting that there are differences among them. A wide surgical excision is considered curative, as this tumour usually behaves in a benign fashion.

  17. Medullary thyroid carcinoma: Sporadic, hereditary

    Directory of Open Access Journals (Sweden)

    Boži? Vesna D.

    2003-01-01

    Full Text Available Medullary thyroid cancer (MTC is uncommon thyroid tumor with specific characteristics which undoubtedly divide this tumor from other thyroid malignances. Patients with sporadic or hereditary form of MTC differ in clinical presentation, recurrence of the disease and outcome. The aim of study was to establish surgical characteristics of MTC as well as clinical factors that influence surgical treatment. The study group consisted of 68 patients with MTC managed at the Center for Endocrine Surgery between 1987. and 1999. Retrospective analysis included clinical form of the disease, general data, histological and other tumor characteristics. Mean age of the patients were 47.3 years (female/male ratio: 1.5:1. Mean size of tumor was 80.5 cm3, 72.1% patients had tumor greater than 4 cm. in diameter or extrathyroid spread. The majority of patients were in II and III stadium of the disease. Primary operation (at least total thyroidectomy was performed in 57 (84% patients. 2(3% had postoperatively temporally nerve palsy and 7(10.29% temporally hypoparathyroidism. The overall survival was 46.8 + 9.9% after 9 years and 63.6 + 7.2% at 5 years. Postoperative calcitonin value is significant predictor of survival /Spearman's coefficient (R=0.7048/, worse prognosis is in correlation with high postoperative calcitonin values. The treatment of choice is at least total thyroidectomy and central lymph nodes resection if enlarged lymph nodes are found. Precise operative technique lowers the risk of postoperative complications. Complex approach to the patient with MTC includes all available methods in pre and postoperative evaluation as well as surgeon's knowledge and skill.

  18. Paternal Age and Sporadic Schizophrenia: Evidence for De Novo Mutations

    OpenAIRE

    Malaspina, Dolores; Corcoran, Cheryl; Fahim, Cherine; Berman, Ariela; Harkavy-Friedman, Jill; Yale, Scott; Goetz, Deborah; Goetz, Raymond; Harlap, Susan; Gorman, Jack

    2002-01-01

    Schizophrenia is an etiologically heterogeneous syndrome. It has a strong genetic component and exists in clinically indistinguishable familial and nonfamilial (sporadic) forms. A significant role for de novo genetic mutations in genetic schizophrenia vulnerability is suggested by a strong monotonic increase in schizophrenia risk with advancing paternal age. However, an alternative explanation for the paternal age effect in schizophrenia is that childbearing is delayed in fathers who themselv...

  19. 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.

  20. Bilateral sporadic aniridia: review of management

    Directory of Open Access Journals (Sweden)

    Caroline O Adeoti

    2010-09-01

    Full Text Available Caroline O Adeoti1, Adeyinka A Afolabi2, Adebimpe O Ashaye3, Adenike O Adeoye41Department of Ophthalmology, 2Department of Paediatrics, Ladoke Akintola University of Technology (LAUTECH Teaching Hospital, Osogbo, Osun State, Nigeria; 3University College Hospital, Ibadan, Oyo State, Nigeria; 4Obafemi Awolowo University Teaching Hospital, Ile Ife, Osun, Osun State, NigeriaPurpose: To report a rare case of bilateral sporadic aniridia in an African child and review the management modalities.Presentation: We report a case of bilateral sporadic aniridia with horizontal nystagmus, axial cataract optic disc, and fovea hypoplasia in a 5-year-old female patient. She was managed conservatively. Various modalities of treatment are reviewed.Keywords: aniridia, sporadic, nystagmus, cataract, glaucoma, keratopathy, tattooing, syndrome, fovea hypoplasia and optic disc hypoplasia

  1. Variability of sporadic E layer in midlatitudes

    International Nuclear Information System (INIS)

    Complete text of publication follows. Present contribution deals with sporadic E layer variability based on measurement in the Observatory Pruhonice (Czech Republic, 49.9N, 14.5E) during campaigns of high sampling rate measurements (5 min and 15 minute repetition time). Special campaigns were performed during summer time when the sporadic E layer occurrence is highest (data were collected since 2004 till 2008). Variability in height and critical frequency of sporadic E layer over a wide period range of hours to several days, covering tidal and planetary oscillation domain, is analyzed using wavelet transform. Within time series of height and critical frequency of the sporadic E layer there are well developed tidal and planetary modes of oscillation. We confirm our previous finding (based on campaign 2004) that a central period of the diurnal tide is not exactly 24 hours but vary in the range 22 and 26 hours. Wavelet based analysis of the wave activity within Es layer is completed by the measurements and analysis of plasma motion in the height range 90 km - 150 km. Special measurement of plasma drift at two frequency windows. Together with a standard E measurement (2-2.6 MHz) we recorded plasma motion each 15 minutes also in a higher frequency window (3.2 - 4.7 MHz). Our results show significantly different behavior of plasma motion in the E and Es layers.

  2. Association of radiowave absorption with E(sporadic)-activity

    International Nuclear Information System (INIS)

    Noontime radiowave absorption data for frequencies which are reflected below the height of sporadic-E layers show a strong positive correlation with the sporadic-E layer activity. The possibilities of atmospheric waves affecting both the sporadic-E activity as well as mesospheric ionization are suggested to explain this association

  3. The Genomic Architecture of Sporadic Heart Failure

    OpenAIRE

    Dorn, Gerald W.

    2011-01-01

    Common or sporadic systolic heart failure (heart failure) is the clinical syndrome of insufficient forward cardiac output resulting from myocardial disease. Most heart failure is the consequence of ischemic or idiopathic cardiomyopathy. There is a clear familial predisposition to heart failure, with a genetic component estimated to confer between 20 and 30% of overall risk. The multifactorial etiology of this syndrome has complicated identification of its genetic underpinnings. Until recently...

  4. Sensorineural hearing loss in sporadic congenital hypothyroidism.

    OpenAIRE

    Vanderschueren-lodeweyckx, M.; Debruyne, F.; Dooms, L.; Eggermont, E.; Eeckels, R.

    1983-01-01

    Hearing acuity was assessed in 45 children with sporadic congenital hypothyroidism during adequate long-term treatment. Otoscopy was performed in each and additional tympanometry in some of them. Secretory otitis media was found in 6 and was treated medically or by inserting grommets in the eardrum. In these children, hearing acuity was assessed after the otitis had been cured. Hearing acuity was measured either by conventional monoaural pure-tone audiometry (125-8000 Hz) or by binaural free ...

  5. Sporadic variety of pallido-pyramidal syndrome

    OpenAIRE

    Kalita J; Misra U; Das B

    2003-01-01

    A rare case of a 40-year-old lady with a sporadic variety of the pallido-pyramidal syndrome (PPS) is reported. She had marked parkinsonian features on the left side. Her single photon emission computed tomography showed left frontoparietal and basal ganglia hypoperfusion. CT scan and central motor conduction time were normal. She responded partially to a combination of trihexyphenydil and L dopa/C dopa therapy. In view of the diversity in the genetic, clinical and laboratory features, it is p...

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

    Energy Technology Data Exchange (ETDEWEB)

    Rosemann, Michael; Kuosaite, Virginija; Nathrath, Michaela; Atkinson, Michael J. [Institute of Pathology, GSF National Research Centre for Environment and Health, Neuherberg (Germany)]. E-mail: atkinson@gsf.de

    2002-09-01

    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)

  7. 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)

  8. Sporadic Medullary Microcarcinoma in a Young Patient - A Rare Case

    Directory of Open Access Journals (Sweden)

    Vijayshankar S

    2010-10-01

    Full Text Available Sporadic medullary microcarcinoma of thyroid is a rare disease detected usually in 0.15% of all thyroid malignancy. We report a case of sporadic medullary microcarcinoma (MMC of thyroid in a 24 year old male presenting as solitary thyroid nodule. There was no family history of medullary carcinoma of thyroid. Although medullary carcinoma in a familial setting have been reported, sporadic MMC is rare especially in a young patient.

  9. Tumour suppressor genes in sporadic epithelial ovarian cancer

    DEFF Research Database (Denmark)

    Liu, Ying; Ganesan, Trivadi S

    2002-01-01

    Ovarian cancer is the most frequent cause of death from gynaecological malignancies in the western world, and sporadic epithelial ovarian cancer is its most predominant form. The aetiology of sporadic ovarian cancer remains unknown. Genetic studies have enabled a better understanding of the evolution of tumour progression. A major focus of research has been to identify tumour suppressor genes implicated in sporadic ovarian cancer over the past decade. Several tumour suppressor genes have been identified by strategies such as positional cloning and differential expression display. Further research is warranted to understand fully their contribution to the pathogenesis of sporadic ovarian cancer.

  10. 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".

  11. Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas

    Directory of Open Access Journals (Sweden)

    Roy Jennifer

    2009-07-01

    Full Text Available Abstract Background Meningiomas may occur either as familial tumors in two distinct disorders, familial multiple meningioma and neurofibromatosis 2 (NF2, or sporadically, as either single or multiple tumors in individuals with no family history. Meningiomas in NF2 and approximately 60% of sporadic meningiomas involve inactivation of the NF2 locus, encoding the tumor suppressor merlin on chromosome 22q. This study was undertaken to establish whether genomic profiling could distinguish familial multiple meningiomas from sporadic solitary and sporadic multiple meningiomas. Methods We compared 73 meningiomas presenting as sporadic solitary (64, sporadic multiple (5 and familial multiple (4 tumors using genomic profiling by array comparative genomic hybridization (array CGH. Results Sporadic solitary meningiomas revealed genomic rearrangements consistent with at least two mechanisms of tumor initiation, as unsupervised cluster analysis readily distinguished tumors with chromosome 22 deletion (associated with loss of the NF2 tumor suppressor from those without chromosome 22 deletion. Whereas sporadic meningiomas without chromosome 22 loss exhibited fewer chromosomal imbalance events overall, tumors with chromosome 22 deletion further clustered into two major groups that largely, though not perfectly, matched with their benign (WHO Grade I or advanced (WHO Grades II and III histological grade, with the latter exhibiting a significantly greater degree of genomic imbalance (P Conclusion Genomic profiling can provide an unbiased adjunct to traditional meningioma classification and provides a basis for exploring the different genetic underpinnings of tumor initiation and progression. Most importantly, the striking difference observed between sporadic and familial multiple meningiomas indicates that genomic profiling can provide valuable information for differential diagnosis of subjects with multiple meningiomas and for considering the risk for tumor occurrence in their family members.

  12. Martian Slope Streaks Form Sporadically Throughout the Year

    Science.gov (United States)

    King, C. M.; Schorghofer, N.; Wagstaff, K. L.

    2010-03-01

    Time constraints for the formation of dark slope streaks on Mars are derived from multi-overlap orbital images. We find that slope streaks form sporadically throughout the year, which has implications for possible triggering mechanisms.

  13. Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literature

    Directory of Open Access Journals (Sweden)

    Nozières Cécile

    2011-10-01

    Full Text Available Abstract Background Somatotropinoma, a pituitary adenoma characterised by excessive production of growth hormone (GH, is extremely rare in childhood. A genetic defect is evident in some cases; known genetic changes include: multiple endocrine neoplasia type 1 (MEN1; Carney complex; McCune-Albright syndrome; and, more recently identified, aryl hydrocarbon receptor-interacting protein (AIP. We describe seven children with somatotropinoma with a special focus on the differences between genetic and sporadic forms. Methods Seven children who presented in our regional network between 1992 and 2008 were included in this retrospective analysis. First-type therapy was somatostatin (SMS analogues or transsphenoidal surgery. Control was defined as when insulin-like growth factor-1 (IGF-1 levels were within the normal range for the patient's age at 6 months after therapy, associated with decreasing tumour volume. Results Patients were aged 5-17 years and the majority (n = 6 were male. Four patients had an identified genetic mutation (McCune-Albright syndrome: n = 1; MEN1: n = 1; AIP: n = 2; the remaining three cases were sporadic. Accelerated growth rate was reported as the first clinical sign in four patients. Five patients presented with macroadenoma; invasion was noted in four of them (sporadic: n = 1; genetic: n = 3. Six patients were treated with SMS analogues; normalisation of IGF-1 occurred in one patient who had a sporadic intrasellar macroadenoma. Multiple types of therapy were necessary in all patients with an identified genetic mutation (4 types: n = 1; 3 types: n = 2; 2 types: n = 1, whereas two of the three patients with sporadic somatotropinoma required only one type of therapy. Conclusions This is the first series that analyzes the therapeutic response of somatotropinoma in paediatric patients with identified genetic defects. We found that, in children, genetic somatotropinomas are more invasive than sporadic somatotropinomas. Furthermore, SMS analogues appear to be less effective for treating genetic somatotropinoma than sporadic somatotropinoma.

  14. "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements

    OpenAIRE

    Rafati Maryam; Ghadirzadeh Mohammad R; Heshmati Yaser; Adibi Homeira; Keihanidoust Zarrintaj; Eshraghian Mohammad R; Dastan Jila; Hoseini Azadeh; Purhoseini Marzieh; Ghaffari Saeed R

    2012-01-01

    Abstract Background Cryptic subtelomeric rearrangements 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 studied. As positive family history of ID had been proposed as an important and significant predicting factor of subtelomeric rearrangements, it was assumed that the contribution of subtelomeric aberrations in familial ID would be much more than the sporadic ones. Three hundred and twenty two...

  15. 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...

  16. Inhibitor of prostacyclin production in sporadic haemolytic uraemic syndrome.

    OpenAIRE

    Levin, M.; Elkon, K. B.; Nokes, T. J.; Buckle, A. M.; Dillon, M. J.; Hardisty, R. M.; Barratt, T. M.

    1983-01-01

    Prostacyclin (PGI2) production was diminished when rat aortic rings were incubated with plasma from 5 of 6 patients with the sporadic form of haemolytic uraemic syndrome but was normal in the presence of plasma from 7 patients with the epidemic form of haemolytic uraemic syndrome or from patients with other renal diseases. The reduced PGI2 production was caused by an unstable inhibitor, extractable into polar lipid solvents, in sporadic haemolytic uraemic plasma. These results suggest that th...

  17. The cybrid model of sporadic Parkinson's disease.

    Science.gov (United States)

    Trimmer, Patricia A; Bennett, James P

    2009-08-01

    Parkinson's disease (PD) is the eponym attached to the most prevalent neurodegenerative movement disorder of adults, derived from observations of an early nineteenth century physician and paleontologist, James Parkinson, and is now recognized to encompass much more than a movement disorder clinically or dopamine neuron death pathologically. Most PD ( approximately 90%) is sporadic (sPD), is associated with mitochondrial deficiencies and has been studied in cell and animal models arising from the use of mitochondrial toxins that unfortunately have not predicted clinical efficacy to slow disease progression in humans. We have extensively studied the cytoplasmic hybrid ("cybrid") model of sPD in which donor mtDNAs are introduced into and expressed in neural tumor cells with identical nuclear genetic and environmental backgrounds. sPD cybrids demonstrate many abnormalities in which increased oxidative stress drives downstream antioxidant response and cell death activating signaling pathways. sPD cybrids regulate mitochondrial ETC genes and gene ontology families like sPD brain. sPD cybrids spontaneously form Lewy bodies and Lewy neurites, linking mtDNA expression to neuropathology, and demonstrate impaired organelle transport in processes and reduced mitochondrial respiration. Our recent studies show that near-infrared laser light therapy normalizes mitochondrial movement and can stimulate respiration in sPD cybrid neurons, and mitochondrial gene therapy can restore respiration and stimulate mitochondrial ETC gene and protein expression. sPD cybrids have provided multiple lines of circumstantial evidence linking mtDNA to sPD pathogenesis and can serve as platforms for therapy development. sPD cybrid models can be improved by the use of non-tumor human stem cell-derived neural precursor cells and by an introduction of postmortem brain mtDNA to test its causality directly. PMID:19328199

  18. 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

  19. Joint observations of sporadic sodium and sporadic E layers at middle and low latitude in China

    Science.gov (United States)

    Yang, Guotao; Wang, Jihong; Du, Lifang; Yue, Chuan; Wang, Zelong; Jiao, MS. Jing

    The sporadic sodium layers (SSL) phenomena were studied with sodium (Na) lidar at Beijing (40. 5°N?116. 0°E) and Haikou (19.5°N, 109.1°E) in China. The main parameters of SSL and Es events were statistically analyzed at both observing sites. SSL occurrence has maximum near 22:00 LT, and Es occurrence has maximum before midnight. Comparison reveals that all the average values of height and strength factor of SSL and Es at Beijing are higher than those at Haikou, as well as the average of foEs. The correlation of SSL with Es is stronger at Haikou, and the formation of SSL is obviously influenced by seasonally varied chemical and dynamical processes.

  20. Exceptional Algebra and Sporadic Groups at c=12

    CERN Document Server

    Cheng, Miranda C N; Kachru, Shamit; Whalen, Daniel

    2015-01-01

    In earlier works, it was seen that a ${\\mathbb Z}/2$ orbifold of the theory of 24 free two-dimensional chiral fermions admits various sporadic finite simple groups as global symmetry groups when viewed as an ${\\cal N}=1$, ${\\cal N}=2$, or ${\\cal N}=4$ superconformal field theory. In this note, we show that viewing the same theory as an SCFT with extended ${\\cal N}=1$ symmetry -- where the extension is the same one which arises in string compactification on manifolds of exceptional Spin$(7)$ holonomy -- yields theories which have global symmetry given by the sporadic groups $M_{24}, Co_2$ or $Co_3$. The partition functions twined by these symmetries, when decomposed into characters of the Spin(7) algebra, give rise to two-component vector-valued mock modular forms encoding an infinite-dimensional module for the corresponding sporadic groups.

  1. Sporadic acoustic neuroma in young patient: our experience

    OpenAIRE

    Poletti, AM; Dubey, SP; Calabrese, V.; Colombo, G; Zanoletti, E; Malvezzi, L; Mazzoni, A

    2009-01-01

    Acoustic neuroma is very rare in children and could be sporadic or as part of NF2. Our series of 10 cases deals with the patients of sporadic (non NF2) acoustic neuromas in pediatrics and adolescent patients. The age of the youngest patient in our series was 12 years. A review of similar cases in both English and non-English literature was made. It showed 34 such cases of acoustic neuromas as pediatric age group. Unlike adults, children do not usually report hearing loss and are often id...

  2. Pointed Hopf algebras over some sporadic simple groups

    CERN Document Server

    Andruskiewitsch, N; Graña, M; Vendramin, L

    2009-01-01

    Any finite-dimensional complex pointed Hopf algebra with group of group-likes isomorphic to a sporadic group G, where G is one of the groups M12, M22, M23, M24, J1, J2, J3, Suz, HS, Co2, Co3, Ru, ON or T, is a group algebra.

  3. SREBF1 links lipogenesis to mitophagy and sporadic Parkinson disease.

    Science.gov (United States)

    Ivatt, Rachael M; Whitworth, Alexander J

    2014-08-01

    Mitochondrial quality control has an impact on many diseases, but intense research has focused on the action of 2 genes linked to heritable forms of Parkinson disease (PD), PINK1 and PARK2/parkin, which act in a common pathway to promote mitophagy. However, criticism has been raised that little evidence links this mechanism to sporadic PD. To gain a greater insight into the mechanisms of PINK1-PARK2 mediated mitophagy, we undertook a genome-wide RNAi screen in Drosophila and human cell models. Strikingly, we discovered several components of the lipogenesis pathway, including SREBF1, playing a conserved role in mitophagy. Our results suggest that lipids influence the stabilization of PINK1 during the initiation of mitophagy. Importantly, SREBF1 has previously been identified as a risk locus for sporadic PD, and thus implicates aberrant mitophagy as contributing to sporadic PD. Our findings suggest a role for lipid synthesis in PINK1-PARK2 mediated mitophagy, and propose a mechanistic link between familial and sporadic PD, supporting a common etiology. PMID:24991824

  4. Resveratrol prevents tumorigenesis in mouse model of Kras activated sporadic colorectal cancer by suppressing oncogenic Kras expression.

    Science.gov (United States)

    Saud, Shakir M; Li, Weidong; Morris, Nicole L; Matter, Matthias S; Colburn, Nancy H; Kim, Young S; Young, Matthew R

    2014-12-01

    Sporadic and non-hereditary mutations account for the majority of colorectal cancers (CRC). After the loss of adenomatous polyposis coli (APC) function and activation of the ?-catenin/LEF signaling pathway, activating mutations in Kras are major drivers of sporadic CRC. Preventing the outgrowth of cells that develop sporadic mutations will decrease CRC. Resveratrol, a naturally occurring polyphenolic compound has anti-inflammatory, anti-oxidant and anti-cancer activities. We used a genetically engineered mouse model for sporadic CRC where the APC locus is knocked out and Kras is activated specifically in the distal colon to determine the effects of resveratrol on preventing and treating CRC. Feeding mice a diet supplemented with 150 or 300 ppm resveratrol (105 and 210mg daily human equivalent dose, respectively) before tumors were visible by colonoscopy resulted in a 60% inhibition of tumor production. In the 40% of mice that did develop tumors Kras expression was lost in the tumors. In a therapeutic assay where tumors were allowed to develop prior to treatment, feeding tumor bearing mice with resveratrol resulted in a complete remission in 33% of the mice and a 97% decrease in tumor size in the remaining mice. Analysis of miRNA expression in non-tumoral and tumoral colonic tissue of resveratrol treated mice showed an increased expression of miR-96, a miRNA previously shown to regulate Kras translation. These data indicate that resveratrol can prevent the formation and growth of colorectal tumors by downregulating Kras expression. PMID:25280562

  5. The Aetiology of Genetic, Acquired and Sporadic Prion Diseases

    Directory of Open Access Journals (Sweden)

    NEILA BAJRAMI

    2015-03-01

    Full Text Available Based on the protein X or the chaperone protein hypothesis which enables the reaction of conversion from PrPc to PrPSc and the gene interaction of this protein with prion protein gene (PRNP gene we do propose the genotypes involved and give possible explanations of genetic, sporadic and acquired forms of prion diseases. In this context, the genetic forms of prion diseases like fCJD, fGSS and FFi have A-B genotypes. In these genotypes, PRNP gene and Xchap have been subject to a dominant mutation. In the sporadic forms of prion diseases like sCJD and sFI, the Xchap gene has been subject to dominant mutation but in the acquired forms of prion diseases (kuru, iCJD and VCJD the PRNP gene has been subject to a dominant mutation

  6. A Study Of Sporadic Adult Onset Degenerative Cerebellar Ataxias

    Directory of Open Access Journals (Sweden)

    Sinha K K

    1999-01-01

    Full Text Available Twenty-four cases of sporadic olivo-ponto-cerebellar atrophy (OPCA of adult onset were studied over a period of two years. Results suggest that this disorder has its usual onset in the 5th and 6th decade of life with a male: female ratio of 2:1. It manifests clinically with gait ataxia in all, dysarthria, other cerebellar signs and autonomic involvement in vast majority. There were features of basal ganglia involvement in some. No known identifiable environmental cause was found and genetically they are quite distinct from the known autosomal dominant spinocerebellar ataxias though sporadic occurrence in recessive inheritance or a de novo mutation could not be ruled out completely, but it is unlikely.

  7. 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.

  8. 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...

  9. Sporadic Gastric Carcinoid Tumor Laparoscopically Resected: A Case Report

    OpenAIRE

    de la Fuente, Sebastian G.; McMahon, Ross L.; Pickett, Lisa Clark; Pappas, Theodore N.

    2004-01-01

    Sporadic gastric carcinoid tumors are relatively infrequent malignancies of the stomach. Tumors measuring less than 1 cm can sometimes be safely removed endoscopically; however, larger neoplasias require surgical ablation. The present case report represents a gastric carcinoid tumor laparoscopically resected in a patient with a history of hematemesis. The tumor was first marked endoscopically with India ink, which facilitated subsequent localization of the area to be resected. Laparoscopic re...

  10. The Origin of stream and sporadic meteors, comets or asteroids

    Science.gov (United States)

    Williams, I. P.; Jopek, T. J.

    2014-07-01

    Asteroids and Comets that come close to the Earth's orbit are called Near Earth Objects (NEOs). Any dust ejected from them, meteoroid streams will formed a~meteoroid stream with orbits that are similar to that of the parent body. If the Earth passes through such a stream, the meteoroids will ablate and produce meteors that are as meteor showers. In this region, orbits evolve rapidly, hence, over time the orbits of stream meteoroids will progressively diverge both from each other and from the orbit of the parent body, so that instead of being observed as a meteor shower, these meteoroids become part of the sporadic background. When a meteor shower is observed, a similarity in the orbits should indicate the parent and several test for this are discussed. If the parent is active, then it is a comet, but if no activity is found then it could either be an asteroid or a dormant comet. In this case, the behaviour of the meteor in the atmosphere will indicate whether the parent body was likely to be an asteroid or a comet. For sporadic meteoroids the situation is more complicated as they can not be associated with a givenparent body. All that can be done is to classify the orbits as being of comet or asteroid origin. Several criteria have been proposed and applied to the present day orbits of sporadic meteors. Using a single criterion can introduce a serious bias into the results with the fraction of comet orbits understated by up to 29%. Two parameter criteria have been suggested to remove this bias. Using these criteria on a set of ~78000 sporadic meteoroids 66-67% have comet type orbits. This fraction can differ for meteors observed by different techniques, i.e. video, photographic and radar, in general it decreases with decreasing brightness of the observed meteors.

  11. The Cybrid Model of Sporadic Parkinson’s Disease

    OpenAIRE

    Trimmer, Patricia A.; Bennett, James P.

    2009-01-01

    Parkinson’s disease (PD) is the eponym attached to the most prevalent neurodegenerative movement disorder of adults, derived from observations of an early nineteenth century physician and paleontologist, James Parkinson, and is now recognized to encompass much more than a movement disorder clinically or dopamine neuron death pathologically. Most PD (~90%) is sporadic (sPD), is associated with mitochondrial deficiencies and has been studied in cell and animal models arising from use of mitoc...

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

    OpenAIRE

    Fritzsche Markus

    2002-01-01

    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 excesse...

  13. Insulin Signaling in Sporadic Alzheimer's Disease

    Science.gov (United States)

    Francesca-Fang Liao (University of Tennessee Health Science Center; Department of Pharmacology REV)

    2009-06-09

    Excessive production of ?-amyloid (A?) peptides from proteolytic cleavage of amyloid precursor protein is believed to play a central role in the pathogenesis of Alzheimer’s disease (AD). In particular, accumulated intracellular A? is found in vulnerable neurons, and the soluble oligomers of A? peptides [also termed A?-derived diffusible ligands (ADDLs)] are highly toxic to neurons. Evidence shows that both extracellular and intracellular ADDLs can compromise insulin signaling. Extracellular ADDLs can bind to synapses and decrease membrane insulin receptors (IRs) through an insulin signaling–dependent mechanism. Intracellular A? inhibits IR signaling in neurons by interfering with the association between phosphoinositide-dependent kinase 1 and Akt1 to preclude Akt1 activation. Together, these findings suggest that agents that stimulate insulin signaling may have neuroprotective effects. Indeed, insulin and insulin sensitizers have been shown to improve cognitive and memory functions in animal models of AD, as well as in AD patients.

  14. Sporadic plasma heating in the lower chromosphere

    Science.gov (United States)

    Zaitsev, V. V.

    2014-12-01

    It is usually assumed that heating of the chromosphere is caused by the precipitation of energetic particles (electrons and protons) accelerated in the solar corona, namely, at flare arc tops. On the other hand, recently obtained observational data show that the chromospheric footpoints of compact magnetic loops are directly heated to ?106 K, and hot plasma erupted from the footpoints of such loops. The plasma mechanism of the THz emission of flares may also indicate that deep chromospheric layers with densities up to n ? 1015 cm-3 can be heated to about 105-106 K. It has been shown that electrons can be accelerated and plasma can be heated in the lower chromosphere when the Rayleigh-Taylor instability develops at magnetic loop chromo-spheric footpoints. This instability results in the penetration of the upper chromospheric plasma into a loop and induces an electric field that effectively accelerates electrons and leads to in situ heating of the chromo-sphere.

  15. 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.

  16. Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.

    Science.gov (United States)

    McMillan, Corey T; Toledo, Jon B; Avants, Brian B; Cook, Philip A; Wood, Elisabeth M; Suh, Eunran; Irwin, David J; Powers, John; Olm, Christopher; Elman, Lauren; McCluskey, Leo; Schellenberg, Gerard D; Lee, Virginia M-Y; Trojanowski, John Q; Van Deerlin, Vivianna M; Grossman, Murray

    2014-06-01

    Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) that are sensitive for tau or TDP-43 pathology in frontotemporal lobar degeneration (FTLD). Neuroimaging analyses have revealed distinct distributions of disease in FTLD patients with genetic mutations. However, genetic influences on neuroanatomic structure in sporadic FTLD have not been assessed. In this report, we use novel multivariate tools, Eigenanatomy, and sparse canonical correlation analysis to identify associations between SNPs and neuroanatomic structure in sporadic FTLD. Magnetic resonance imaging analyses revealed that rs8070723 (MAPT) was associated with gray matter variance in the temporal cortex. Diffusion tensor imaging analyses revealed that rs1768208 (MOBP), rs646776 (near SORT1), and rs5848 (PGRN) were associated with white matter variance in the midbrain and superior longitudinal fasciculus. In an independent autopsy series, we observed that rs8070723 and rs1768208 conferred significant risk of tau pathology relative to TDP-43, and rs646776 conferred increased risk of TDP-43 pathology relative to tau. Identified brain regions and SNPs may help provide an in vivo screen for underlying pathology in FTLD and contribute to our understanding of sporadic FTLD. PMID:24373676

  17. 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.

  18. Gene expression profiling: Canonical molecular changes and clinicopathological features in sporadic colorectal cancers

    Directory of Open Access Journals (Sweden)

    Jin Cheon Kim, Seon Young Kim, Seon Ae Roh, Dong-Hyung Cho, Dae Dong Kim, Jeong Hyun Kim, Yong Sung Kim

    2008-11-01

    Full Text Available AIM: To investigate alternative or subordinate pathways involved in colorectal tumorigenesis and tumor growth, possibly determining at-risk populations and predicting responses to treatment.METHODS: Using microarray gene-expression analysis, we analyzed patterns of gene expression relative to canonical molecular changes and clinicopathological features in 84 sporadic colorectal cancer patients, standardized by tumor location. Subsets of differentially expressed genes were confirmed by real-time reverse-transcript polymerase chain reaction (RT-PCR.RESULTS: The largest number of genes identified as being differentially expressed was by tumor location, and the next largest number by lymphovascular or neural invasion of tumor cells and by mismatch repair (MMR defects. Amongst biological processes, the immune response was significantly implicated in entire molecular changes observed during colorectal tumorigenesis (P < 0.001. Amongst 47 differentially expressed genes, seven (PISD, NIBP, BAI2, STOML1, MRPL21, MRPL16, and MKKS were newly found to correlate with tumorigenesis and tumor growth. Most location-associated molecular changes had distinct effects on gene expression, but the effects of the latter were sometimes contradictory.CONCLUSION: We show that several differentially expressed genes were associated with canonical molecular changes in sporadic colorectal cancers, possibly constituting alternative or subordinate pathways of tumorigenesis. As tumor location was the dominant factor influencing differential gene expression, location-specific analysis may identify location-associated pathways and enhance the accuracy of class prediction.

  19. 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.

  20. INTUSSUSCEPTION IN A CHILD WITH SPORADIC BURKITT LYMPHOMA

    Directory of Open Access Journals (Sweden)

    D. Meucci

    2009-11-01

    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.

  1. 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.

  2. "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements

    Directory of Open Access Journals (Sweden)

    Rafati Maryam

    2012-01-01

    Full Text Available Abstract Background Cryptic subtelomeric rearrangements 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 studied. As positive family history of ID had been proposed as an important and significant predicting factor of subtelomeric rearrangements, it was assumed that the contribution of subtelomeric aberrations in familial ID would be much more than the sporadic ones. Three hundred and twenty two patients from 102 unrelated families with more than two ID patients in the first degree relatives have been investigated. Assessment of subtelomeric rearrangements were carried out using Multiplex Ligation-Dependent Probe Amplification (MLPA technique. Detected aberrations were then confirmed by Fluorescence in Situ Hybridization (FISH method. Results Among the families studied, 27.4% had 4-12, 36.3% had 3 and 36.3% had 2 affected individuals in the first degree relatives. One unbalanced translocation and 4 polymorphic changes were detected. The prevalence of clinically significant subtelomeric rearrangements was 0.98%. Conclusion This is the first investigation of subtelomeric aberrations in a large sample set of familial ID patients. Our results show that the contribution of subtelomeric rearrangements to familial ID is not as much as what had been determined for sporadic ones in the literature. Moreover, this study shows that the positive family history by alone, cannot be the most important and determining indicator of subtelomeric aberrations while it would be a good predicting factor when associated with dysmorphism or congenital malformations. These findings propose that other cryptic chromosomal abnormalities or even single gene disorders may be the main cause of familial ID rather than subtelomeric aberrations.

  3. 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, Álvaro; Benítez, Javier; Carracedo, Ángel

    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

  4. 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.

  5. 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

  6. Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.

    Science.gov (United States)

    Gu, X; Guo, L; Ji, H; Sun, S; Chai, R; Wang, L; Li, H

    2015-06-01

    The genetic heterogeneity of non-syndromic hearing loss (NSHL) has hampered the identification of its pathogenic mutations. Several recent studies applied targeted genome enrichment (TGE) and massively parallel sequencing (MPS) to simultaneously screen a large set of known hearing loss (HL) genes. However, most of these studies were focused on familial cases. To evaluate the effectiveness of TGE and MPS on screening sporadic NSHL patients, we recruited 63 unrelated sporadic NSHL probands, who had various levels of HL and were excluded for mutations in GJB2, MT-RNR1, and SLC26A4 genes. TGE and MPS were performed on 131 known HL genes using the Human Deafness Panel oto-DA3 (Otogenetics Corporation., Norcross, GA). We identified 14 pathogenic variants in STRC, CATSPER2, USH2A, TRIOBP, MYO15A, GPR98, and TMPRSS3 genes in eight patients (diagnostic rate = 12.7%). Among these variants, 10 were novel compound heterozygous mutations. The identification of pathogenic mutations could predict the progression of HL, and guide diagnosis and treatment of the disease. PMID:24853665

  7. Diffusion MR imaging in sporadic Creutzfeldt-Jakob disease

    Directory of Open Access Journals (Sweden)

    Burcak Cakir Pekoz

    2014-08-01

    Full Text Available Creutzfeldt-Jakob disease (CJD is a rare dementing disease and is thought to caused by a prion. It is characterized by rapidly progressive dementia, ataxia, myoclonus, akinetic mutism and eventual death. Brain biopsy or autopsy is required for a definitive diagnosis of CJD. Diffusion-weighted imaging became an important tool for early diagnosis of CJD because of the high sensitivity. We present 59-year-old female patient diagnosed as sporadic CJD with typical MR imagings. [Cukurova Med J 2014; 39(4.000: 880-883

  8. Representing the Sporadic Archimedean Polyhedra as Abstract Polytopes

    CERN Document Server

    Hartley, Michael

    2009-01-01

    We present the results of an investigation into the representations of Archimedean polyhedra (those polyhedra containing only one type of vertex figure) as quotients of regular abstract polytopes. Two methods of generating these presentations are discussed, one of which may be applied in a general setting, and another which makes use of a regular polytope with the same automorphism group as the desired quotient. Representations of the 14 sporadic Archimedean polyhedra (including the pseudorhombicuboctahedron) as quotients of regular abstract polyhedra are obtained, and summarised in a table. The information is used to characterise which of these polyhedra have acoptic Petrie schemes (that is, have well-defined Petrie duals).

  9. 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.

  10. Sporadic medullary thyroid carcinoma: clinical data from a university hospital

    OpenAIRE

    Joya Emilie M. Correia-Deur; Toledo, Rodrigo A; Alice T. Imazawa; Delmar M Lourenço Jr; 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 obs...

  11. 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

  12. Calpastatin Gene (CAST) Is Not Associated with Late Onset Sporadic Parkinson’s Disease in the Han Chinese Population

    Science.gov (United States)

    Zhang, Lan; Ding, Hui; Wang, Dan-Hui; Zhang, Yan-Li; Baskys, Andrius; Chan, Piu; Zhong, Yu; Cai, Yan-Ning

    2013-01-01

    Recent studies point to an association between the late-onset sporadic Parkinson’s disease (PD) and single nucleotide polymorphisms (SNPs) rs1559085 and rs27852 in Ca2+-dependent protease calpain inhibitor calpastatin (CAST) gene. This finding is of interest since loss of CAST activity could result in over activated calpain, potentially leading to Ca2+ dysregulation and loss of substantia nigra neurons in PD. We explored the association between CAST SNPs and late-onset sporadic PD in the Han Chinese population. The study included 615 evaluable patients (363 male, 252 female) with PD and 636 neurologically healthy controls (380 male, 256 female) matched for age, gender, ethnicity, and area of residence. PD cases were identified from the PD cohort of the Chinese National Consortium on Neurodegenerative Diseases (www.chinapd.cn). A total of 24 tag-SNPs were genotyped capturing 95% of the genetic variation across the CAST gene. There was no association found between any of the polymorphisms and PD in all models tested (co-dominant, dominant-effect and recessive-effect). Similarly, none of the common haplotypes was associated with a risk for PD. Our data do not support a significant association between the CAST gene polymorphisms and late onset sporadic PD in the Han Chinese population. PMID:23951044

  13. 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...

  14. Study of sporadic-E clouds by backscatter radar

    Directory of Open Access Journals (Sweden)

    Z. Houminer

    Full Text Available It is shown that swept-frequency backscatter ionograms covering a range of azimuths can be used to study the dynamics of sporadic-E clouds. A simple technique based on analytic ray tracing can be used to simulate the observed narrow traces associated with Es patches. This enables the location and extent of the sporadic-E clouds to be determined. The motion of clouds can then be determined from a time sequence of records. In order to demonstrate the method, results are presented from an initial study of 5 days of backscatter ionograms from the Jindalee Stage B data base obtained during March-April 1990. Usually 2–3 clouds were observed each day, mainly during the evening and up to midnight. The clouds lasted from 1–4 h and extended between 30°–80° in azimuth and 150-800 km in range. The clouds were mostly stationary or drifted generally westward with velocities of up to 80 m s–1. Only one cloud was observed moving eastward.

  15. Sporadic Hemangioblastoma of the Kidney: a rare renal tumor

    Directory of Open Access Journals (Sweden)

    Liu Yang

    2012-05-01

    Full Text Available Abstract Hemangioblastoma is a benign and morphologically distinctive tumor that can occur sporadically or in association with von Hippel-Lindau disease in approximately 25% of the cases, and which involves the central nervous system in the majority of the cases. Rare occurrences of hemangioblastoma in peripheral nerves and extraneural tissues have been reported. This report describes one case of sporadic renal hemangioblastoma happened in a 16-year-old Chinese female patient, presenting with hematuria, and low back pain. Histologically, the tumors were circumscribed, and composed of sheets of large polygonal cells traversed by arborizing thin-walled blood vessels. The diagnosis of hemangioblastoma was confirmed by negative immunostaining for cytokeratin, and positive staining for ?-inhibin, S100 and neuron-specific enolase (NSE. This benign neoplasm which can be mistaken for various malignancies such as renal cell carcinoma, epithelioid hemangiopericytoma and epithelioid angiomyolipoma, deserves wider recognition for its occurrence as a primary renal tumor. Virtual slides The virtual slide(s for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/5445834246942699

  16. Dyssynchronous secretory endometrial glands often show sporadically acquired progesterone nonresponsiveness.

    Science.gov (United States)

    Howitt, Brooke E; Monte, Nicolas M; Elvin, Julia; Mutter, George L

    2015-05-01

    Primary sporadic gene-inactivating events within the progesterone response cascade might explain the presence of individual dyssynchronous (outlier) glands commonly observed in a secretory background. We queried morphologically dyssynchronous glands in mid-secretory endometrium with a series of markers normally downregulated by progesterone. Seventy-nine mid-secretory endometrial biopsies were stained with hematoxylin and eosin, MIB-1, PAX2, estrogen and progesterone receptors, and PTEN. Aberrant staining of glands was independently scored for each marker. Outlier glands overlapping between stains were enumerated. A total of 63% of cases had hematoxylin and eosin stained outlier glands (average 9), which often demonstrated failed progesterone-mediated downregulation of PAX2 (43%), estrogen (40%), and/or progesterone receptors (28%). Aberrations of progesterone response was seen in 70% to 85% of cases overall, averaging 10 to 30 glands/affected case. The frequency and burden of affected glands was similar to that seen for primary inactivating events of the PAX2 and PTEN genes (35% and 41% of cases, respectively, averaging 32 and 38 glands per affected patient). Sporadic gene-inactivating events are common during endometrial regeneration, and may cause morphologic changes unmasked by the hormonal context. Some of these dyssynchronous "outlier" glands, whether evident on hematoxylin and eosin stain or not, have an interrupted progesterone response. PMID:25844547

  17. 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.

  18. 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

  19. Aging and renewal events in sporadically modulated systems

    International Nuclear Information System (INIS)

    We describe a form of modulation, namely a dishomogeneous Poisson process whose event rate changes sporadically and randomly in time with a chosen prescription, so as to share many statistical properties with a corresponding non-Poisson renewal process. Using our prescription the correlation function and the waiting time distribution between events are the same. If we study a continuous-time random walk, where the walker has only two possible velocities, randomly established at the times of the events, we show that the two processes also share the same second moment. However, the modulated diffusion process undergoes a dynamical transition between superstatistics and a Levy walk process, sharing the scaling properties of the renewal process only asymptotically. The aging experiment - based on the evaluation of the waiting time for the next event, given a certain time distance between another previous event and the beginning of the observation - seems to be the key experiment to discriminate between the two processes

  20. [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

  1. A Tangled Web - Tau and Sporadic Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    PatrickALewis

    2010-12-01

    Full Text Available Parkinson's disease (PD represents a major challenge for health care systems around the world: it is the most common degenerative movement disorder of old age, affecting over 100,000 people in the UK alone. A great deal of progress has been made in understanding the molecular basis of PD by taking advantage of advances in genetics, initially by the identification of genes responsible for rare mendellian forms of PD (outlined in table one, and more recently by applying genome wide association studies (GWAS to the sporadic form of the disease. Several such GWAS have now been carried out, with a meta-analysis currently under way. Using over 6000 cases and 10000 controls, two of these studies have identified variation at a number of loci as being associated with an increased risk of disease. Three genes stand out as candidates from these studies – the SNCA gene, coding for ? -synuclein, the LRRK2 gene, coding for leucine rich repeat kinase 2, and MAPT, coding for the microtubule associated protein tau. Point mutations in ? -synuclein, along with gene multiplication events, result in autosomal dominant PD, often with a significant dementia component. In addition to this, ? -synuclein is the principle component of the main pathological hallmark of PD, the Lewy body. Mutations in LRRK2 are the most common genetic cause of PD, and so again were a likely candidate for a susceptibility locus for the sporadic form of disease. More surprising, perhaps, was the identification of tau as a susceptibility factor for Parkinson's. In this review we will outline the role of tau in neurodegeneration and in different forms of parkinsonism, and speculate as to what the functional basis of this association might be.

  2. Automatic scaling of the sporadic E layer and removal of its multiple reflection and backscatter echoes for vertical incidence ionograms

    Science.gov (United States)

    Jiang, Chunhua; Zhang, Yuannong; Yang, Guobin; Zhu, Peng; Sun, Hengqing; Cui, Xiao; Song, Huan; Zhao, Zhengyu

    2015-07-01

    This paper presents a method for automatically scaling the sporadic E (Es) layer and removing its multiple reflection and backscatter echoes for vertical incidence (VI) ionograms. First, the method scales the Es layer automatically. Then, it removes the traces of multiple reflection and backscatter of the Es layer to clean VI ionograms using the parameters of the Es layer. Ionograms recorded at Wuhan (30.5°N, 114.37°E) are used to verify the performance of the proposed method compared with manually scaled values. The results indicate that the proposed method can automatically scale the Es layer and effectively improve the performance of the technique developed by Jiang et al. (2013).

  3. Serum autoantibodies to neurofilament proteins in sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Couratier, P; Yi, F H; Preud'homme, J L; Clavelou, P; White, A; Sindou, P; Vallat, J M; Jauberteau, M O

    1998-02-01

    Anti-neurofilament (NF) autoantibodies were searched for by enzyme-linked immunosorbent assays (ELISA) in the serum from 85 sporadic amyotrophic lateral sclerosis (ALS) patients, 98 healthy controls and 79 patients with unrelated immunological diseases (Guillain-Barré syndrome, myasthenia gravis and multiple sclerosis). ELISA cutoff value was determined as mean control levels +2 SD and it corresponded to a specificity of 94%. Such high level antibodies were detected in 24.7% of ALS patients contrasting with 12.6% of neurological controls (P<0.05) and only 6.1% of healthy subjects (P<5.10[-4]). In ALS, anti-NF antibodies were significantly associated with a slow evolution, as measured by the mean time spent in the initial functional states. They did not relate with age, sex and clinical form. The predominant isotype of the anti-NF antibodies was IgM lambda by ELISA. In contrast to negative sera, indirect immunohistochemical studies demonstrated that most sera positive for anti-NF antibodies reacted with axons with predominant isotypes restricted to IgM lambda. By using Western blotting, small amounts of serum monoclonal IgM were found with a high frequency in anti-NF antibody-positive patients. These results suggest the possible involvement of anti-NF antibodies in an autoimmune process in a subgroup of ALS patients. PMID:9562303

  4. 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

  5. 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...

  6. Biochemical characterization of sporadic/familial hemiplegic migraine mutations.

    Science.gov (United States)

    Weigand, Karl M; Swarts, Herman G P; Russel, Frans G M; Koenderink, Jan B

    2014-07-01

    Sporadic hemiplegic migraine type 2 (SHM2) and familial hemiplegic migraine type 2 (FHM2) are rare forms of hemiplegic migraine caused by mutations in the Na(+),K(+)-ATPase ?2 gene. Today, more than 70 different mutations have been linked to SHM2/FHM2, randomly dispersed over the gene. For many of these mutations, functional studies have not been performed. Here, we report the functional characterization of nine SHM2/FHM2 linked mutants that were produced in Spodoptera frugiperda (Sf)9 insect cells. We determined ouabain binding characteristics, apparent Na(+) and K(+) affinities, and maximum ATPase activity. Whereas membranes containing T345A, R834Q or R879W possessed ATPase activity significantly higher than control membranes, P796S, M829R, R834X, del 935-940 ins Ile, R937P and D999H membranes showed significant loss of ATPase activity compared to wild type enzyme. Further analysis revealed that T345A and R879W showed no changes for any of the parameters tested, whereas mutant R834Q possessed significantly decreased Na(+) and increased K(+) apparent affinities as well as decreased ATPase activity and ouabain binding. We hypothesize that the majority of the mutations studied here influence interdomain interactions by affecting formation of hydrogen bond networks or interference with the C-terminal ion pathway necessary for catalytic activity of Na(+),K(+)-ATPase, resulting in decreased functionality of astrocytes at the synaptic cleft expressing these mutants. PMID:24704353

  7. Nonhomologous chromatid exchange in hereditary and sporadic renal cell carcinomas

    International Nuclear Information System (INIS)

    For the development of renal cell carcinomas, it has been suggested that a germ-line or somatic mutation occurs on one of the homologous chromosomes 3p, and subsequently the other 3p segment is lost. The authors have examined the karyotype and/or the allelic combination on chromosomes 3 and 5 by restriction fragment length polymorphism analysis in normal kidney and tumor samples from 28 renal cell carcinomas that developed in two patients with von Hippel-Lindau disease. They then compared the results to those of sporadic tumors. An unbalanced translocation between chromosome 3p and 5q or other chromosomes was found to be the most common aberration. They developed a model of nonhomologous chromatid exchange involving breakpoint clusters at chromosomes 3p13, 3p11.2, 5q22, and 8q11.2. Subsequent chromatid segregation may result in net loss of the 3p segment either (1) in one step or (2) after a nondisjunctional loss of the derivative chromosome carrying the 3p segment. This general mechanism could also be implicated to expalin genetic changes occurring in other types of solid tumors

  8. 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.

  9. Genetic alterations and epithelial dysplasia in juvenile polyposis syndrome and sporadic juvenile polyps.

    OpenAIRE

    Wu, T T; B. Rezai; Rashid, A; Luce, M.C.; Cayouette, M. C.; Kim, C.; Sani, N.; Mishra, L.; Moskaluk, C A; Yardley, J H; Hamilton, S R

    1997-01-01

    Juvenile polyps are regarded as hamartomatous polyps and occur in sporadic and familial syndromic settings. There is increased risk of gastrointestinal neoplasia in patients with juvenile polyposis syndrome, but the molecular mechanisms are not known. We therefore studied 78 colorectal juvenile polyposis from 12 patients with juvenile polyps syndrome and 34 sporadic juvenile polyps for epithelial dysplasia and genetic changes associated with colorectal neoplasia. Dysplasia occurred in 31% of ...

  10. Frequent Alteration of the Tumor Suppressor Gene APC in Sporadic Canine Colorectal Tumors

    OpenAIRE

    Youmans, Lydia; Taylor, Cynthia; Shin, Edwin; Harrell, Adrienne; Ellis, Angela E.; Se?guin, Bernard; Ji, Xinglai; Zhao, Shaying

    2012-01-01

    Sporadic canine colorectal cancers (CRCs) should make excellent models for studying the corresponding human cancers. To molecularly characterize canine CRC, we investigated exonic sequence mutations of adenomatous polyposis coli (APC), the best known tumor suppressor gene of human CRC, in 23 sporadic canine colorectal tumors, including 8 adenomas and 15 adenocarcinomas, via exon-resequencing analysis. As a comparison, we also performed the same sequencing analysis on 10 other genes, either lo...

  11. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences.

    OpenAIRE

    Kim, H.(Department of Physics, Stockholm University, Stockholm, Sweden); Jen, J.; B. Vogelstein; Hamilton, S.R.

    1994-01-01

    DNA replication errors (RERs) in repeated nucleotide sequences due to defective mismatch repair genes have been reported in a subset of sporadic colorectal carcinomas and in the majority of tumors from patients with hereditary nonpolyposis colorectal cancer syndrome (HNPCC). We detected RER in 18 cases (13%) in a prospective series of 137 sporadic stage II and III (Dukes' B and C) colorectal carcinomas. The clinical and pathological features of the RER-positive cases differed from those witho...

  12. Molecular Epidemiology, Spatiotemporal Analysis, and Ecology of Sporadic Human Cryptosporidiosis in Australia?

    OpenAIRE

    Waldron, Liette S.; Dimeski, Borce; Beggs, Paul J.; Ferrari, Belinda C.; Power, Michelle L.

    2011-01-01

    Parasites from the Cryptosporidium genus are the most common cause of waterborne disease around the world. Successful management and prevention of this emerging disease requires knowledge of the diversity of species causing human disease and their zoonotic sources. This study employed a spatiotemporal approach to investigate sporadic human cryptosporidiosis in New South Wales, Australia, between January 2008 and December 2010. Analysis of 261 human fecal samples showed that sporadic human cry...

  13. 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.

  14. 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.

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

    Science.gov (United States)

    van Eimeren, Thilo; Binkofski, Ferdinand; Buhmann, Carsten; Hagenah, Johann; Strafella, Antonio P; Pramstaller, Peter P; Siebner, Hartwig R; Klein, Christine

    2010-07-01

    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. PMID:20434937

  16. 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.

  17. Sporadic medullary thyroid carcinoma: clinical data from a university hospital

    Directory of Open Access Journals (Sweden)

    Joya Emilie M. Correia-Deur

    2009-05-01

    Full Text Available 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.

  18. Sporadic medullary thyroid carcinoma: clinical data from a university hospital

    Scientific Electronic Library Online (English)

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

    2009-05-01

    Full Text Available 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 dia [...] gnosed 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.

  19. Type 3 diabetes is sporadic Alzheimer?s disease: mini-review.

    Science.gov (United States)

    de la Monte, Suzanne M

    2014-12-01

    Alzheimer?s disease (AD) is the most common cause of dementia in North America. Growing evidence supports the concept that AD is a metabolic disease mediated by impairments in brain insulin responsiveness, glucose utilization, and energy metabolism, which lead to increased oxidative stress, inflammation, and worsening of insulin resistance. In addition, metabolic derangements directly contribute to the structural, functional, molecular, and biochemical abnormalities that characterize AD, including neuronal loss, synaptic disconnection, tau hyperphosphorylation, and amyloid-beta accumulation. Because the fundamental abnormalities in AD represent effects of brain insulin resistance and deficiency, and the molecular and biochemical consequences overlap with Type 1 and Type 2 diabetes, we suggest the term "Type 3 diabetes" to account for the underlying abnormalities associated with AD-type neurodegeneration. In light of the rapid increases in sporadic AD prevalence rates and vastly expanded use of nitrites and nitrates in foods and agricultural products over the past 30-40 years, the potential role of nitrosamine exposures as mediators of Type 3 diabetes is discussed. PMID:25088942

  20. Meat consumption and meat preparation in relation to colorectal adenomas among sporadic and HNPCC family patients in The Netherlands

    OpenAIRE

    Voskuil, D. W.; Kampman, E.; Grubben, M. J. A. L.; Kok, F. J.; Nagengast, F. M.; Vasen, H. F. A.; Veer, P.

    2002-01-01

    Meat consumption and meat preparation methods are thought to be associated with the risk of sporadic colorectal cancer, and possibly adenomas. As the same somatic mutations occur in sporadic adenomas and hereditary non-polyposis colorectal cancer (HNPCC)-related adenomas, similar exogenous factors may play a role in the development of both types of adenoma. In a case control study among 57 sporadic colorectal adenoma cases and 62 adenoma cases from HNPCC families (and 148 adenoma-free control...

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

    Directory of Open Access Journals (Sweden)

    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.

  2. 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.)

  3. 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.

  4. Norovirus genotype diversity in community-based sporadic gastroenteritis incidents: a five-year study.

    Science.gov (United States)

    Bruggink, Leesa D; Dunbar, Natalie L; Marshall, John A

    2015-06-01

    Although norovirus is a known cause of sporadic gastroenteritis, the incidence and genotypes of norovirus associated with sporadic community-based gastroenteritis are poorly understood. The current study examined this issue by using material from alleged food poisoning incidents in the state of Victoria, Australia, for the period 2008-2012. Norovirus was identified, by either ORF (open reading frame) 1 or ORF 2 RT-PCR methodology, in 159 of 379 (42.0%) sporadic gastroenteritis incidents, thereby showing that norovirus was an important cause of sporadic gastroenteritis. The number of sporadic norovirus incidents did not vary significantly from year to year, indicating that the pool of circulating norovirus remained constant. Norovirus ORF 1 genotypes identified included GI.1, GI.2, GI.3, GI.4, GI.b, GI.d, GII.2, GII.4 (including variants 2006a, 2006b, 2007, and 2009), GII.16, GII.22, GII.b, GII.e, and GII.g. Norovirus ORF 2 genotypes identified included GI.1, GI.2, GI.3, GI.4, GI.6, GII.2, GII.3, GII.4 (variants 2006b, 2009, 2009-like, 2012, and "unknown"), GII.6, GII.7, GII.9, GII.12, and GII.13. Five ORF 1/ORF 2 norovirus recombinant forms were confirmed: GII.b/GII.3, GII.e/GII.4 (2012), GII.e/GII.4 (unknown), GII.g/GII.12 and GII.16/GII.2. Although the incidence of ORF 2 GI.3 was significantly higher in children than in adults, this was not the case for other major ORF 2 genotypes (GII.2, GII.4, and GII.6) which occurred equally in all age groups. The findings demonstrate the importance and diverse nature of norovirus in sporadic community-based gastroenteritis incidents and indicate that the development of successful vaccine strategies may be difficult. PMID:25784155

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

    Directory of Open Access Journals (Sweden)

    DarylABosco

    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.

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

    International Nuclear Information System (INIS)

    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

  7. 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.

  8. Midnight variations of spreading of ionospheric sporadic E-layers before earthquakes

    Directory of Open Access Journals (Sweden)

    Dieter H.H. Hoffmann

    2012-04-01

    Full Text Available

    In the present study, ionospheric phenomena caused by earthquakes of magnitudes M >4.0 were investigated. Night-time observations of the spreading of sporadic E-layers (Es-spread performed every 15 min by the Dushanbe and Petropavlovsk-Kamchatsky (middle Asia vertical sounding stations were studied. The mean relative occurrence frequency of Esspread at different values of the blanketing frequency fbEs was considered, and the dependence of Es-spread on the season as well as on the year through an 11-yr solar activity cycle were studied. The fbEs characterizes the maximum plasma density of the Es-layer. The analysis shows that 1- 3 days before seismic shocks in the Earth crust at depths of h <80 km, the occurrence frequency of the Es-spread increases a few hours before midnight. This effect is characteristic of a strengthening of the turbulization of the E-layer plasma. On the basis that the radius of the earthquake preparation region (RD is estimated by the Dobrovolsky formula RD ? exp(M km, it was found that Es-spread is observed more often when the distance between the epicenter and the radar station is not greater than RD + 150 km. In cases of earthquakes at greater distances and depths, no midnight effect was found. The authors act on the assumption that the Es-spread might be caused by acoustic waves with periods of 20 s to 5 min. When such acoustic disturbances propagate from the Earth surface they will have maximum amplitudes if they move nearly vertically to greater altitudes.


  9. COL11A1 in FAP polyps and in sporadic colorectal tumors

    Directory of Open Access Journals (Sweden)

    Iselius Lennart

    2001-10-01

    Full Text Available Abstract Background We previously reported that the ?-1 chain of type 11 collagen (COL11A1, not normally expressed in the colon, was up-regulated in stromal fibroblasts in most sporadic colorectal carcinomas. Patients with germline mutations in the APC gene show, besides colonic polyposis, symptoms of stromal fibroblast involvement, which could be related to COL11A1 expression. Most colorectal carcinomas are suggested to be a result of an activated Wnt- pathway, most often involving an inactivation of the APC gene or activation of ?-catenin. Methods We used normal and polyp tissue samples from one FAP patient and a set of 37 sporadic colorectal carcinomas to find out if the up-regulation of COL11A1 was associated with an active APC/?-catenin pathway. Results In this study we found a statistically significant difference in COL11A1 expression between normal tissue and adenomas from one FAP patient, and all adenomas gave evidence for an active APC/?-catenin pathway. An active Wnt pathway has been suggested to involve stromal expression of WISP-1. We found a strong correlation between WISP-1 and COL11A1 expression in sporadic carcinomas. Conclusions Our results suggest that expression of COL11A1 in colorectal tumors could be associated with the APC/?-catenin pathway in FAP and sporadic colorectal cancer.

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

    OpenAIRE

    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

    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 (

  11. Horizontal structure of midlatitude sporadic-E layers observed by incorherent scatter radar

    International Nuclear Information System (INIS)

    An investigation of the horizontal structure of sporadic-E layers has been made using the incoherent scatter radar at the Arecibo Observatory. Data are presented for two observations, one with the radar beam held in a vertical position, and another with the beam scanning in azimuth across the sporadic-E layer. The first observation was made at sunset and shows the passage of a large region of ionization, about 150 km in extent, having little small-scale horizontal structure. The second, at midday, shows considerable variation in the value of the maximum electron density in the vertical cross section of an intense sporadic-E layer. The horizontal dimensions of the features range in size down to the resolution of the radar (300 m). By considering the data statistically it is shown that small patches, 300 m or less in horizontal extent, exist in the sporadic-E layer with densities great enough to account for the maximum frequency of the echo recorded on the ionosonde located at the observatory. (auth)

  12. S182 and STM2 gene missense mutations in sporadic alzheimer disease

    Energy Technology Data Exchange (ETDEWEB)

    Higuchi, Susumu; Matsushita, Sachio; Hasegawa, Yoshio; Muramatsu, Taro [Kurihama National Hospital, Yokosuka (Japan)] [and others

    1996-07-26

    The linkage of genes S182 and STM2 to early-onset or late-onset sporadic Alzheimer disease (AD) was not found in a group of 97 clinically-diagnosed AD patients and 46 autopsy-confirmed AD cases, using PCR-RFLP methods. 7 refs.

  13. Giant sporadic fundic gland polyp: Endoscopic and endosonographic features and management

    Directory of Open Access Journals (Sweden)

    Ihab I El Hajj, Mohamad Hawchar, Assaad Soweid, Karim Maasri, Ayman Tawil, Kassem A Barada

    2008-11-01

    Full Text Available Fundic gland polyps are the most common gastric polyps. They are usually small in size, sporadic and asymptomatic. We present a case of giant fundic gland polyp. Our case is particular because of the clinical presentation, the endoscopic and endosonographic documented findings, and the treatment options followed.

  14. CT and MRI in iatrogenic and sporadic Creutzfeldt-Jakob disease: as far as imaging perseives

    International Nuclear Information System (INIS)

    Creutzfeldt-Jakob Disease (CJD), an invariably fatal dementing illness, affects patients in middle and old age (sporadic form). However, the association of CJD with certain treatments (iatrogenic form) has been described in younger patients. The clinical onset of the two forms seems to differ; in the iatrogenic form a high frequency of the ataxic CJD variant has been reported. Nowadays, a definitive diagnosis of CJD is exclusively histological. We present five cases of CJD, one sporadic and the others iatrogenic, following dura mater grafts and analyse their CT and MRI features. CT typically demonstrates brain atrophy, generally progressive, but in sporadic CJD midfield MRI also showed abnormal signal, with predominant deep grey matter involvement. The use of narrow windows with proton-density sequences may reveal subtle cortical signal abnormalities not clearly visible with conventional windows. The early demonstration of these changes, in the appropriate clinical context, may suggest CJD and this supports the use of mid- or high magnetic fields in the diagnosis of CJD and other forms of dementia. In our cases of iatrogenic CJD, low-field MRI did not reveal more than the progressive atrophy displayed by CT, and raises the question on the one hand of possible differences, based on imaging, from the sporadic form, and on the other of the lack of sensitivity of low-field magnets to signal changes in CJD. (orig.)

  15. Sporadic ataxias in Japan--a population-based epidemiological study.

    Science.gov (United States)

    Tsuji, Shoji; Onodera, Osamu; Goto, Jun; Nishizawa, Masatoyo

    2008-01-01

    Sporadic spinocerebellar ataxias (SCAs) comprise heterogeneous diseases with poorly understood epidemiologies and etiologies. A population-based epidemiological analysis of sporadic ataxias in the Japanese population was described. The prevalence rate of SCAs in the Japanese population is estimated to be 18.5/100,000. Sporadic SCAs account for 67.2% of total SCAs including hereditary SCAs, with olivopontocerebellar atrophy (OPCA) being the most common form sporadic ataxia (64.7%). The natural history analysis conducted on the basis of International Cooperative Ataxia Rating Scale (ICARS) showed that only 33% of patients with OPCA were able to walk at least with one stick 4-5 years after the onset of OPCA, which is much less than that of patients with cortical cerebellar atrophy (CCA). Similarly, 43% of patients with OPCA were able to stand alone 4-5 years after the onset, while 76% of patients with CCA were able to stand alone at the same disease duration. A population-based epidemiological analysis should provide essential information on the natural history of SCAs. PMID:18418674

  16. 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.

  17. 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.

  18. 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 waves * Tidal waves * Mid-latitude ionosphere * Wavelet transform Subject RIV: DG - Athmosphere Sciences, Meteorology Impact factor: 1.667, year: 2008

  19. The role of the breast cancer susceptibility gene 1 (BRCA1 in sporadic epithelial ovarian cancer

    Directory of Open Access Journals (Sweden)

    Mueller Christopher R

    2003-10-01

    Full Text Available Abstract Mutations within the BRCA1 tumor suppressor gene occur frequently in familial epithelial ovarian carcinomas but they are a rare event in the much more prevalent sporadic form of the disease. However, decreased BRCA1 expression occurs frequently in sporadic tumors, and the magnitude of this decrease has been correlated with increased disease progression. The near absence of somatic mutations consequently suggests that there are alternative mechanisms that may contribute to the observed loss of BRCA1 in sporadic tumors. Indeed, both allelic loss at the BRCA1 locus and epigenetic hypermethylation of the BRCA1 promoter play an important role in BRCA1 down-regulation; yet these mechanisms alone or in combination do not always account for the reduced BRCA1 expression. Alternatively, misregulation of specific upstream factors that control BRCA1 transcription may be a crucial means by which BRCA1 is lost. Therefore, determining how regulators of BRCA1 expression may be co-opted during sporadic ovarian tumorigenesis will lead to a better understanding of ovarian cancer etiology and it may help foster the future development of novel therapeutic strategies aimed at halting ovarian tumor progression.

  20. 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.

  1. Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.

    Science.gov (United States)

    Burnichon, Nelly; Buffet, Alexandre; Parfait, Béatrice; Letouzé, Eric; Laurendeau, Ingrid; Loriot, Céline; Pasmant, Eric; Abermil, Nasséra; Valeyrie-Allanore, Laurence; Bertherat, Jérôme; Amar, Laurence; Vidaud, Dominique; Favier, Judith; Gimenez-Roqueplo, Anne-Paule

    2012-12-15

    Germline mutations in the RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, MAX, TMEM127, NF1 or VHL genes are identified in about 30% of patients with pheochromocytoma or paraganglioma and somatic mutations in RET, VHL or MAX genes are reported in 17% of sporadic tumors. In the present study, using mutation screening of the NF1 gene, mapping of chromosome aberrations by single nucleotide polymorphism (SNP) array, microarray-based expression profiling and immunohistochemistry (IHC), we addressed the implication of NF1 somatic alterations in pheochromocytomas and paragangliomas. We studied 53 sporadic tumors, selected because of their classification with RET/NF1/TMEM127-related tumors by genome wide expression studies, as well as a second set of 11 independent tumors selected on their low individual levels of NF1 expression evaluated by microarray. Direct sequencing of the NF1 gene in tumor DNA identified the presence of an inactivating NF1 somatic mutation in 41% (25/61) of analyzed sporadic tumors, associated with loss of the wild-type allele in 84% (21/25) of cases. Gene expression signature of NF1-related tumors highlighted the downregulation of NF1 and the major overexpression of SOX9. Among the second set of 11 tumors, two sporadic tumors carried somatic mutations in NF1 as well as in another susceptibility gene. These new findings suggest that NF1 loss of function is a frequent event in the tumorigenesis of sporadic pheochromocytoma and strengthen the new concept of molecular-based targeted therapy for pheochromocytoma or paraganglioma. PMID:22962301

  2. Legionelosis esporádica: un problema sin resolver Sporadic legionellosis: an unsolved problem egionelose esporádica: um problema não resolvido

    Directory of Open Access Journals (Sweden)

    Mikel Etxeberria Agirresarobe

    2013-06-01

    Full Text Available Objetivo: Resumir los hallazgos más relevantes obtenidos en diferentes estudios dirigidos a investigar el origen de la legionelosis esporádica. Métodos: Se ha realizado una búsqueda bibliográfica en revistas nacionales e internacionales (1990-junio 2012 y se han seleccionado los artículos que se ajustan al objetivo del estudio. Los artículos se han clasificado en tres grupos: (i estudios dirigidos a identificar factores ambientales de riesgo; (ii estudios basados en hipótesis de transmisión a partir de fuentes concretas; y (iii estudios basados en la variabilidad espacio-temporal de la legionelosis. Resultados: De los 27 artículos seleccionados, la mitad (13 se han realizado en Reino Unido o EEUU y 2 en España. Los factores de riesgo ambiental identificados con más frecuencia han sido el historial de viaje durante el período de incubación y ser conductor de profesión. Fuentes de infección relacionadas históricamente con brotes, como las torres de refrigeración y el agua de consumo, también se han asociado con los casos esporádicos. Diferentes autores señalan de forma consistente la influencia de los factores meteorológicos en la incidencia y están adquiriendo importancia los estudios dirigidos a analizar el patrón espacial de presentación de casos. Conclusiones: A pesar de las diferentes hipótesis sobre el origen de la legionelosis esporádica no existe una evidencia epidemiológica clara sobre las fuentes de infección. Se pone en cuestión si las medidas de control y vigilancia realizadas actualmente están siendo suficientemente eficaces para prevenir la aparición de casos esporádicos y se destaca la necesidad de seguir investigando.Objective: To summarize the major findings obtained in different studies focusing on the origin of sporadic legionellosis.Methods: A literature search was conducted in national and international journals (1990-June 2012, and those articles that fell within the scope of the study were selected. The articles have been classified into three groups: (i studies designed to identify environmental risk factors, (ii studies based on the transmission hypothesis from specific sources, and (iii studies based on the spatial-temporal pattern of legionellosis.Results: Of the 27 articles selected, half (13 were conducted in the UK or the USA and 2 in Spain. Having a travel history during the incubation period and being a professional driver were the two most frequently identified environmental risk factors. Sources of infection historically related with outbreaks, such as cooling towers and drinking water systems, have also been associated with sporadic cases. The influence of meteorological factors on incidence of the disease has been indicated in a consistent way by various authors, while studies based on spatial analysis methods are gaining in importance.Conclusions: Despite the different hypotheses proposed about the origin of sporadic legionellosis, there is no clear epidemiological evidence regarding the sources of infection. This calls into question if the current monitoring and surveillance measures are sufficiently effective to prevent the occurrence of sporadic cases, and also highlights the need for further research.Objetivo: Resumir as descobertas mais relevantes obtidas em diversos estudos cujo objetivo é investigar a origem da legionelose esporádica.Métodos: Realizou-se uma pesquisa bibliográfica em revistas nacionais e internacionais (1990-jun 2012 e foram selecionados os artigos que se ajustam ao objetivo do estudo. Os artigos foram classificados em três grupos: (i estudos que visam identificar fatores ambientais de risco; (ii estudos baseados na hipótese de transmissão a partir de fontes concretas; e (iii estudos baseados na variabilidade espaço-tempo da legionelose. Resultados: Dos 27 artigos selecionados, a metade (13 foi realizada no Reino Unido ou nos EUA, e 2 em Espanha. Os fatores de risco ambiental identificados com mais frequência foi o historial de viagem durante o período de incubação e ser motorista de profissão. Fon

  3. 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.

  4. Pathways and genes differentially expressed in the motor cortex of patients with sporadic amyotrophic lateral sclerosis

    Directory of Open Access Journals (Sweden)

    Santama Niovi

    2007-01-01

    Full Text Available Abstract Background Amyotrophic lateral sclerosis (ALS is a fatal disorder caused by the progressive degeneration of motoneurons in brain and spinal cord. Despite identification of disease-linked mutations, the diversity of processes involved and the ambiguity of their relative importance in ALS pathogenesis still represent a major impediment to disease models as a basis for effective therapies. Moreover, the human motor cortex, although critical to ALS pathology and physiologically altered in most forms of the disease, has not been screened systematically for therapeutic targets. Results By whole-genome expression profiling and stringent significance tests we identify genes and gene groups de-regulated in the motor cortex of patients with sporadic ALS, and interpret the role of individual candidate genes in a framework of differentially expressed pathways. Our findings emphasize the importance of defense responses and cytoskeletal, mitochondrial and proteasomal dysfunction, reflect reduced neuronal maintenance and vesicle trafficking, and implicate impaired ion homeostasis and glycolysis in ALS pathogenesis. Additionally, we compared our dataset with publicly available data for the SALS spinal cord, and show a high correlation of changes linked to the diseased state in the SALS motor cortex. In an analogous comparison with data for the Alzheimer's disease hippocampus we demonstrate a low correlation of global changes and a moderate correlation for changes specifically linked to the SALS diseased state. Conclusion Gene and sample numbers investigated allow pathway- and gene-based analyses by established error-correction methods, drawing a molecular portrait of the ALS motor cortex that faithfully represents many known disease features and uncovers several novel aspects of ALS pathology. Contrary to expectations for a tissue under oxidative stress, nuclear-encoded mitochondrial genes are uniformly down-regulated. Moreover, the down-regulation of mitochondrial and glycolytic genes implies a combined reduction of mitochondrial and cytoplasmic energy supply, with a possible role in the death of ALS motoneurons. Identifying candidate genes exclusively expressed in non-neuronal cells, we also highlight the importance of these cells in disease development in the motor cortex. Notably, some pathways and candidate genes identified by this study are direct or indirect targets of medication already applied to unrelated illnesses and point the way towards the rapid development of effective symptomatic ALS therapies.

  5. Mitochondrial dysfunction and mitophagy in Parkinson's: from familial to sporadic disease.

    Science.gov (United States)

    Ryan, Brent J; Hoek, Selim; Fon, Edward A; Wade-Martins, Richard

    2015-04-01

    Parkinson's disease (PD) is a progressive neurodegenerative disorder characterised by the preferential loss of dopaminergic neurons in the substantia nigra. Mitochondrial dysfunction is increasingly appreciated as a key determinant of dopaminergic neuronal susceptibility in PD and is a feature of both familial and sporadic disease, as well as in toxin-induced Parkinsonism. Recently, the mechanisms by which PD-associated mitochondrial proteins phosphatase and tensin homolog deleted on chromosome 10 (PTEN)-induced putative kinase 1 (PINK1) and parkin function and induce neurodegeneration have been identified. In addition, increasing evidence implicates other PD-associated proteins such as ?-synuclein (?-syn) and leucine-rich repeat kinase 2 (LRRK2) in mitochondrial dysfunction in genetic cases of PD with the potential for a large functional overlap with sporadic disease. This review highlights how recent advances in understanding familial PD-associated proteins have identified novel mechanisms and therapeutic strategies for addressing mitochondrial dysfunction in PD. PMID:25757399

  6. On twisted conjugacy classes of type D in sporadic simple groups

    CERN Document Server

    Fantino, F

    2011-01-01

    We determine twisted conjugacy classes of type D associated to the sporadic simple groups. This is an important step in the program of the classification of finite-dimensional pointed Hopf algebras with non-abelian coradical. As a by-product we prove that every complex finite-dimensional pointed Hopf algebra over the group of automorphisms of M12, J2, Suz, He, HN, T is the group algebra.

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

    OpenAIRE

    Rafati Maryam; Seyyedaboutorabi Elaheh; Ghadirzadeh Mohammad R; Heshmati Yaser; Adibi Homeira; Keihanidoust Zarrintaj; Eshraghian Mohammad R; Javadi Gholam; Dastan Jila; Mosavi-Jarrahi Alireza; Hoseini Azadeh; Purhoseini Marzieh; Ghaffari Saeed R

    2012-01-01

    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 eigh...

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

    OpenAIRE

    Takahiro Kinoshita; Takashi Oshiro; Tasuku Urita; Yutaka Yoshida; Mitsuru Ooshiro; Shinichi Okazumi; Ryoji Katoh; Daisuke Sasai; Nobuyuki Hiruta

    2010-01-01

    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 arisin...

  9. Sporadic naturally occurring melanoma in dogs as a preclinical model for human melanoma

    OpenAIRE

    Simpson, R. Mark; Bastian, Boris C.; Michael, Helen T.; Webster, Joshua D.; Prasad, Manju L.; Conway, Catherine M.; Prieto, Victor M.; Gary, Joy M.; Goldschmidt, Michael H.; Esplin, D. Glen; Smedley, Rebecca C.; Piris, Adriano; Meuten, Donald J.; Kiupel, Matti; Lee, Chyi-chia R.

    2013-01-01

    Melanoma represents a significant malignancy in humans and dogs. Different from genetically engineered models, sporadic canine melanocytic neoplasms share several characteristics with human disease that could make dogs a more relevant preclinical model. Canine melanomas rarely arise in sun-exposed sites. Most occur in the oral cavity, with a subset having intra-epithelial malignant melanocytes mimicking the in situ component of human mucosal melanoma. The spectrum of canine melanocytic neopla...

  10. Static-priority scheduling of sporadic messages on a wireless channel

    OpenAIRE

    Andersson, Bjo?rn; Tovar, Eduardo

    2005-01-01

    Consider the problem of scheduling sporadic messages with deadlines on a wireless channel. We propose a collision-free medium access control (MAC) protocol which implements static-priority scheduling and present a schedulability analysis technique for the protocol. The MAC protocol allows multiple masters and is fully distributed; it is an adaptation to a wireless channel of the dominance protocol used in the CAN bus. But unlike that protocol, our protocol does not require a...

  11. Fine structure analysis of the WT1 gene in sporadic Wilms tumors.

    OpenAIRE

    Varanasi, R.; Bardeesy, N.; Ghahremani, M.; Petruzzi, M. J.; Nowak, N.; Adam, M. A.; Grundy, P.; Shows, T. B.; Pelletier, J.

    1994-01-01

    Molecular genetic studies indicate that the etiology of Wilms tumor (WT) is complex, involving at least three loci. Germ-line mutations in the tumor suppressor gene, WT1, have been documented in children with WTs and urogenital developmental anomalies. Sporadic tumors constitute the majority (> 90%) of WT cases and previous molecular analyses of the WT1 gene have focused only on the DNA-binding domain. Using the single-strand conformational polymorphism (SSCP) assay, we analyzed the structura...

  12. Striatal Dopaminergic Functioning in Patients with Sporadic and Hereditary Spastic Paraplegias with Parkinsonism

    OpenAIRE

    Kim, Ji Seon; Kim, Jong Min; Kim, Yu Kyeong; Kim, Sang Eun; Yun, Ji Young; Jeon, Beom S

    2013-01-01

    Sporadic spastic paraplegia (SSP) and hereditary spastic paraplegia (HSP) belong to a clinical and genetically heterogeneous group of disorders characterized by progressive spasticity and weakness in the lower extremities. The symptoms are associated with pyramidal tract dysfunction and degeneration of the corticospinal tracts. Parkinsonism is uncommon in SSP/HSP patients. However, both disorders are associated with damage to the nigrostriatal dopaminergic system. In the present study, the cl...

  13. Familial genes in sporadic disease: Common variants of ?-Synuclein gene associate with Parkinson’s disease

    OpenAIRE

    Ross, Owen A.; Gosal, David; Stone, Jeremy T.; Lincoln, Sarah J.; Heckman, Michael G.; Irvine, Brent G.; Johnston, Janet A.; Gibson, J. Mark; Farrer, Matthew J.; Lynch, Timothy

    2007-01-01

    Genetic variation of the ?-synuclein gene (SNCA) is known to cause familial parkinsonism, however the role of SNCA variants in sporadic Parkinson’s disease (PD) remains elusive. The present study identifies an association of common SNCA polymorphisms with disease susceptibility in a series of Irish PD patients. There is evidence for association with alternate regions, of protection and risk which may act independently/synergistically, within the promoter region (Rep1; OR: 0.59, 95% CI: 0.3...

  14. Association Studies of Sporadic Parkinson’s Disease in the Genomic Era

    OpenAIRE

    Labbe?, Catherine; Ross, Owen A.

    2014-01-01

    Parkinson’s disease is a common age-related progressive neurodegenerative disorder. Over the last 10 years, advances have been made in our understanding of the etiology of the disease with the greatest insights perhaps coming from genetic studies, including genome-wide association approaches. These large scale studies allow the identification of genomic regions harboring common variants associated to disease risk. Since the first genome-wide association study on sporadic Parkinson’s disea...

  15. Minor physical anomalies in familial and sporadic schizophrenia: the Maudsley family study

    OpenAIRE

    Griffiths, T; Sigmundsson, T; TAKEI, N.; Frangou, S.; Birkett, P; T. Sharma; Reveley, A; Murray, R.

    1998-01-01

    OBJECTIVES—(1) To test the hypothesis that minor physical anomalies are increased in patients with schizophrenia and (2) to investigate differences in the prevalence of minor physical anomalies in patients with familial and sporadic schizophrenia and their first degree relatives.?METHODS—A weighted Waldrop assessment was carried out on 214 subjects in five groups: schizophrenic patients from multiply affected families; first degree relatives of these familial schizo...

  16. Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS.

    Science.gov (United States)

    Kariya, Shingo; Sampson, Jacinda B; Northrop, Lesley E; Luccarelli, Christopher M; Naini, Ali B; Re, Diane B; Hirano, Michio; Mitsumoto, Hiroshi

    2014-12-01

    Abstract Sporadic amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with no established biological marker. Recent observation of a reduced number of gems (survival motor neuron protein (SMN)-positive nuclear bodies) in cells from patients with familial ALS and the mouse models suggests an involvement of SMN in ALS pathology. At a molecular level, fused in sarcoma (FUS), one of the familial ALS-linked proteins, has been demonstrated to directly interact with SMN, while impaired nuclear localization of mutated FUS causes defective gem formation. Our objective was to determine whether gems and/or nuclear FUS levels in skin derived fibroblasts from sporadic ALS patients are consistently reduced and thus could constitute a novel and readily available biomarker of the disease. Fibroblasts from 20 patients and 17 age-matched healthy controls were cultured and co-immunostained for SMN and FUS. Results showed that no difference was detected between the two groups in the number of gems and in expression pattern of FUS. The number of gems negatively correlated with the age at biopsy in both ALS and control subjects. In conclusion, the expression pattern of SMN and FUS in fibroblasts cannot serve as a biomarker for sporadic ALS. Donor age-dependent gem reduction is a novel observation that links SMN with cellular senescence. PMID:24809826

  17. Microsatellite D21D210 (GT-12) allele frequencies in sporadic Alzheimer`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Lannfelt, L.; Lilius, L.; Viitanen, M.; Winblad, B.; Basun, H. [Huddinge Hospital, Karolinska Institute, Dept. of Geriatric Medicine, (Sweden); Houlden, H.; Rossor, M. [St. Mary`s Hospital, Dept. of Neurology, Medical School, London (United Kingdom); Hardy, J. [University of South Florida, Suncoast Alzheimer`s Disease Research Labs, Department of Psychiatry, Tampa (United States)

    1995-02-01

    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.).

  18. 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 H; Korn, Joshua M; McCarroll, Steven A; Gorham, Joshua M; Gabriel, Stacey; Altshuler, David M; Quintanilla-Dieck, Maria de Lourdes; 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, Jonathan G; Seidman, Christine E

    2009-08-01

    Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (1q21.1 in 1% (5/512, P = 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases. We also identified recurrent CNVs at 3p25.1, 7p21.3 and 22q11.2. CNVs in a single subject with TOF occurred at six loci, two that encode known (NOTCH1, JAG1) disease-associated genes. Our findings predict that at least 10% (4.5-15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF. PMID:19597493

  19. Fine structure analysis of the WT1 gene in sporadic Wilms tumors

    Energy Technology Data Exchange (ETDEWEB)

    Varanasi, R.; Bardeesy, N.; Ghahremani, M.; Pelletier, J. [McGill Univ., Montreal (Canada); Petruzzi, M.-J.; Nowak, N.; Shows, T.B. [State Univ. of New York, Buffalo, NY (United States); Adam, M.A. [Merck-Frosst Center for Therapeutic Research, Point Claire-Dorval (Canada); Grundy, P. [Cross Cancer Institute, Edmonton (Canada)

    1994-04-26

    Molecular genetic studies indicate that the etiology of Wilms tumor (WT) is complex, involving at least three loci. Germ-line mutations in the tumor suppressor gene, WT1, have been documented in children with WTs and urogenital developmental anomalies. Sporadic tumors constitute the majority (>90%) of WT cases and previous molecular analyses of the WT1 gene have focused only on the DNA-binding domain. Using the single-strand conformational polymorphism (SSCP) assay, the authors analyzed the structural integrity of the entire WT1 gene in 98 sporadic WTs. By PCR-SSCP they find that mutations in the WT1 gene are rare, occurring in only six tumors analyzed. In one sample, two independent intragenic mutations inactivated both WT1 alleles, providing a singular example of two different somatic alterations restricted to the WT1 gene. This case is consistent with the existence of only one tumor suppressor gene at 11p13 involved in the pathogenesis of WTs. The data, together with the previously ascertained occurrence of large deletions/insertions in WT1, define the frequency at which the WT1 gene is altered in sporadic tumors. 36 refs., 3 figs.

  20. Cancer driver-passenger distinction via sporadic human and dog cancer comparison: a proof of principle study with colorectal cancer

    OpenAIRE

    Tang, Jie; Li, Yaping; Lyon, Kenneth; Camps, Jordi; Dalton, Stephen; Ried, Thomas; Zhao, Shaying

    2013-01-01

    Herein we report a proof of principle study illustrating a novel dog-human comparison strategy that addresses a central aim of cancer research, namely cancer driver–passenger distinction. We previously demonstrated that sporadic canine colorectal cancers (CRCs) share similar molecular pathogenesis mechanisms as their human counterparts. In this study, we compared the genome-wide copy number abnormalities between 29 human- and 10 canine sporadic CRCs. This led to the identification of 73 dri...

  1. HLA-DRB1 frequency in patients with familial and sporadic rheumatoid arthritis in north east of Iran.

    Science.gov (United States)

    Saghafi, Massoud; Nohesara, Najmeh; Rafatpanah, Houshang; Shariati, Jaleh; Shakeri, Mohamad Taghi

    2014-10-01

    Rheumatoid arthritis (RA) is a chronic inflammatory disease of the joints that has a strong correlation with HLA-DRB1. Family history is considered a known risk factor for RA. The aims of this study were to compare the frequency of HLA-DRB1 alleles between patients with sporadic and familial RA and also between healthy controls with RA patients (sporadic and familial) and clarify if familial RA is more severe than sporadic RA. This study included 129 consecutive patients with sporadic and 48 cases with familial (first-degree siblings) RA who visited a rheumatology unit. Demographic data, including extra-articular involvement, mean disease activity according to DAS28 (ESR) criteria, and main laboratory findings, were compared between patients with sporadic and familial RA. HLA-DRB1 typing was carried out using the PCR-SSP method, and the frequency of each allele was determined in all cases and compared with the results of HLA-DRB1 frequencies in 72 healthy controls who were previously reported by our group in northeast Iran. Patients with sporadic and familial RA were matched in age and sex, most of the cases in both groups were females. The mean age of patients was 45 years. Ocular involvement was the most frequent extra-articular manifestation of our patients. There was no significant difference between the two groups in visual analogue scale (VAS) index, number of inflamed or tender joints, extra-articular involvements, and main laboratory findings. HLA-DRB1* 01 (55 %), 04 (48 %), and 03 (43 %) alleles were the most frequent alleles in both sporadic and familial diseases. The frequency of HLA-DRB1*11 and HLA-DRB1*13 was significantly higher in normal participants compared with RA (p?=?0.001). There was no significant difference in the HLA-DRB1 allele's frequency between sporadic and familial RA. Therefore, familial aggregation was not associated with RA severity. PMID:24760193

  2. Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1.

    OpenAIRE

    Mead, S.; Mahal, SP; Beck, J.; Campbell, T; Farrall, M.; Fisher, E.; Collinge, J.

    2001-01-01

    Human prion diseases have inherited, sporadic, and acquired etiologies. The appearance of the novel acquired prion disease, variant Creutzfeldt-Jakob disease (vCJD), and the demonstration that it is caused by the same prion strain as that causing bovine spongiform encephalopathy, has led to fears of a major human epidemic. The etiology of classical (sporadic) CJD, which has a worldwide incidence, remains obscure. A common human prion-protein-gene (PRNP) polymorphism (encoding either methionin...

  3. 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-...

  4. Age At Onset Predicts Good Seizure Outcome In Sporadic Non-Lesional and Mesial Temporal Sclerosis Based Temporal Lobe Epilepsy

    OpenAIRE

    Aguglia, Umberto; Beghi, Ettore; Labate, Angelo; Condino, Francesca; Cianci, Vittoria; Mumoli, Laura; Gasperini, Sara; Quattrone, Aldo; Gambardella, Antonio

    2010-01-01

    Abstract Purpose. To study prognosis and prognostic predictors of sporadic, non-lesional temporal lobe epilepsy (TLE). Method. Four hundred seventy-four patients with TLE were consecutively seen from April 1987 to April 2004. One hundred-ninety had a sporadic, non lesional TLE and a follow-up longer than two years. Two hundred eighty four patients were excluded because of family history for TLE, incomplete history, poor compliance with treatment, psychogenic seizures, no brain M...

  5. Loss of 11p11 is a frequent and early event in sporadic nonfunctioning pancreatic neuroendocrine neoplasms

    OpenAIRE

    HAUGVIK, SVEN-PETTER; Gorunova, Ludmila; HAUGOM, LISBETH; EIBAK, ANNE METTE; Gladhaug, Ivar Prydz; Heim, Sverre; Micci, Francesca

    2014-01-01

    The pathogenesis of sporadic pancreatic neuroendocrine neoplasms (PNENs) is poorly understood. To gain insight into the genetic mechanisms underlying this tumor entity, we performed genome-wide screening of 16 surgical specimens from 15 patients with sporadic PNEN, combining G-band karyotyping and high resolution comparative genomic hybridization (HR-CGH). G-banding revealed abnormal karyotypes in 2 of 10 tumor samples analyzed. DNA copy number changes were detected in 13 samples, whereas thr...

  6. The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations

    Science.gov (United States)

    Sharma, M; Mueller, J C; Zimprich, A; Lichtner, P; Hofer, A; Leitner, P; Maass, S; Berg, D; Dürr, A; Bonifati, V; De Michele, G; Oostra, B; Brice, A; Wood, N W; Muller?Myhsok, B; Gasser, T

    2006-01-01

    Background Parkinson's disease is a genetically complex disease with mixed mode of inheritance. Recently, a haplotype across the sepiapterin reductase (SPR) gene, which is located in the PARK3 linkage region, was shown to modulate age of onset of Parkinson's disease in sibships from North America. Objective To make a thorough assessment of the SPR gene region in sporadic Parkinson's disease. Methods A linkage study in 122 European sibship families with five microsatellite and 17 single nucleotide polymorphism (SNP) markers in and around the SPR gene region, and an association analysis in 340 sporadic cases of Parkinson's disease and 680 control subjects from Germany with 40 SNPs. Linkage was evaluated by non?parametric linkage scores and genotypic or haplotype association was tested by regression analysis, assuming different risk effect models. Results Significant LOD scores between 2 and 3 were obtained at the two SPR?flanking markers D2S2110 and D2S1394 and seven SNP markers around the SPR gene. We found the previously reported promoter SNP rs1876487 also significantly associated with age of onset in our sib pair families (p?value 0.02). One strong linkage disequilibrium (LD) block of 45 kb including the entire SPR gene was observed. Within this LD block all 14 inter?correlated SNPs were significantly associated with Parkinson's disease affection status (p?value 0.004). Conclusions DNA polymorphisms in a highly intercorrelated LD block, which includes the SPR gene, appear to be associated with both sporadic and familial Parkinson's disease. This confirms a previous study showing that SPR potentially modulates the onset of or risk for Parkinson's disease. PMID:16443856

  7. Ionogram height time intensity observations of descending sporadic E layers at mid-latitude

    Science.gov (United States)

    Haldoupis, C.; Meek, C.; Christakis, N.; Pancheva, D.; Bourdillon, A.

    2006-02-01

    A new methodology of ionosonde height time intensity (HTI) analysis is introduced which allows the investigation of sporadic E layer (Es) vertical motion and variability. This technique, which is useful in measuring descent rates and tidal periodicities of Es, is applied on ionogram recordings made during a summer period from solstice to equinox on the island of Milos (36.7°N; 24.5°E). On the average, the ionogram HTI analysis revealed a pronounced semidiurnal periodicity in layer descent and occurrence. It is characterized by a daytime layer starting at 120 km near 06 h local time (LT) and moving downward to altitudes below 100 km by about 18 h LT when a nighttime layer appears above at ˜125 km. The latter moves also downward but at higher descent rates (1.6 2.2 km/h) than the daytime layer (0.8 1.5 km/h). The nighttime Es is weaker in terms of critical sporadic E frequencies (foEs), has a shorter duration, and tends to occur less during times close to solstice. Here, a diurnal periodicity in Es becomes dominant. The HTI plots often show the daytime and nighttime Es connecting with weak traces in the upper E region which occur with a semidiurnal, and at times terdiurnal, periodicity. These, which are identified as upper E region descending intermediate layers (DIL), play an important role in initiating and reinforcing the sporadic E layers below 120 125 km. The observations are interpreted by considering the downward propagation of wind shear convergent nodes that associate with the S2,3 semidiurnal tide in the upper E region and the S1,1 diurnal tide in the lower E region. The daytime sporadic E layer is attributed to the confluence of semidiurnal and diurnal convergent nodes, which may explain the well-known pre-noon daily maximum observed in foEs. The nighttime layer is not well understood, although most likely it is associated with the intrusion of the daytime DIL into the lower E region due to vertical wind shear convergence nodes descending with the semidiurnal tide. It was also found that the descent rates of sporadic E may not always represent the vertical phase velocities of the tides, especially in the nighttime layers. Finally, the ionosonde HTI analysis is a promising new tool for exploring long-duration data sets from ionosondes around the globe to obtain preliminary climatological studies of neutral wind dynamics at E region heights in the lower thermosphere.

  8. Novel Loci for Non-Syndromic Coarctation of the Aorta in Sporadic and Familial Cases

    Science.gov (United States)

    Dittrich, Sven; Rüffer, André; Ekici, Arif B.; Toka, Okan

    2015-01-01

    Backround Coarctation of the aorta (CoA) accounts for 5-8% of all congenital heart defects. CoA can be detected in up to 20% of patients with Ullrich-Turner syndrome (UTS), in which a part or all of one of the X chromosomes is absent. The etiology of non-syndromic CoA is poorly understood. In the present work, we test the hypothesis that rare copy number variation (CNV) especially on the gonosomes, contribute to the etiology of non-syndromic CoA. Methods We performed high-resolution genome-wide CNV analysis using the Affymetrix SNP 6.0 microarray platform for 70 individuals with sporadic CoA, 3 families with inherited CoA (n=13) and 605 controls. Our analysis comprised genome wide association, CNV burden and linkage. CNV was validated by multiplex ligation-dependent probe amplification. Results We identified a significant abundance of large (>100 kb) CNVs on the X chromosome in males with CoA (p=0.005). 11 out of 51 (~ 22%) male cases had these large CNVs. Association analysis in the sporadic cohort revealed 14 novel loci for CoA. The locus on 21q22.3 in the sporadic CoA cohort overlapped with a gene locus identified in all familial cases of CoA (candidate gene TRPM2). We identified one CNV locus within a locus with high multipoint LOD score from a linkage analysis of the familial cases (SEPT9); another locus overlapped with a region implicated in Kabuki syndrome. In the familial cases, we identified a total of 7 CNV loci that were exclusively present in cases but not in unaffected family members. Conclusion Of all candidate loci identified, the TRPM2 locus was the most frequently implicated autosomal locus in sporadic and familial cases. However, the abundance of large CNVs on the X chromosome of affected males suggests that gonosomal aberrations are not only responsible for syndromic CoA but also involved in the development of sporadic and non-syndromic CoA and their male dominance. PMID:25984793

  9. Integron types, gene cassettes, antimicrobial resistance genes and plasmids of Shigella sonnei isolates from outbreaks and sporadic cases in Taiwan.

    Science.gov (United States)

    Chang, Chung-Yu; Lu, Po-Liang; Lin, Chung-Che; Lee, Tsong-Ming; Tsai, Mei-Yin; Chang, Lin-Li

    2011-02-01

    This study analysed the presence, location and transferability of integrons and antibiotic resistance genes in 103 Shigella sonnei outbreak isolates and in 32 sporadic isolates from Taiwan. Multiple antimicrobial resistance was common in both outbreak (95?%) and sporadic (97?%) isolates. Class 1 integrons were present in 34 outbreak isolates (33?%) and in six sporadic isolates (19?%). This study is the first, to our knowledge, to identify an atypical sul3-associated class 1 integron carrying the estX-psp-aadA2-cmlA-aadA1-qacH cassette array in Shigella. Class 2 integrons carrying the dfr1-sat2-aadA1 cassette array were predominant in outbreak isolates (90?%) but were not present in sporadic isolates. Other antimicrobial resistance genes not associated with integrons were found to encode resistance to ampicillin (bla(TEM)), chloramphenicol (cat1), sulfonamide (sul2) and tetracycline (tetA and tetB). The most common plasmid size was 130 kb (observed in 43 and 97?% of 1998 outbreak and sporadic isolates, respectively). In conclusion, the plasmid location of resistance genes and horizontal plasmid transfer promote the spread of multiple resistance genes in outbreak and sporadic isolates of S. sonnei. PMID:20947666

  10. Increased Prevalence of Colorectal Neoplasia in Korean Patients with Sporadic Duodenal Adenomas: A Case-Control Study

    Science.gov (United States)

    Chung, Woo Chul; Lee, Bo-In; Roh, Sang Young; Kwak, Jae Wuk; Hwang, Sun-Mee; Ko, Yoon Ho; Oh, Jung-Hwan; Cho, Hyunjung; Chae, Hiun-Suk

    2011-01-01

    Background/Aims Recent data from Western populations have suggested that patients with sporadic duodenal adenomas are at a higher risk for the development of colorectal neoplasia. In this study, we compared the frequency of colorectal neoplasia in patients with sporadic duodenal adenomas to healthy control subjects. Methods This retrospective case-control study used the databases of 3 teaching hospitals in Gyeonggi-do Province, South Korea. The colonoscopy findings of patients with sporadic duodenal adenomas were compared with those of age- and gender-matched healthy individuals who had undergone gastroduodenoscopies and colonoscopies during general screening examinations. Results Between 2001 and 2008, 45 patients were diagnosed endoscopically with sporadic duodenal adenomas; 26 (58%) of these patients received colonoscopies. Colorectal neoplasia (42% vs 21%; odds ratio [OR], 2.8; 95% confidence interval [CI], 1.1 to 7.4) and advanced colorectal adenoma (19% vs 3%; OR, 9.0; 95% CI, 1.6 to 50.0) were significantly more common in patients with sporadic duodenal adenomas than in healthy control subjects. Conclusions Compared with healthy individuals, patients with sporadic duodenal adenomas were at a significantly higher risk for developing colorectal neoplasia. Such at-risk patients should undergo routine screening colonoscopies. PMID:22195240

  11. Sporadic-E Plasma Irregularities under an Electron Temperature Rise in the Layer

    Science.gov (United States)

    Kyzyurov, Yurij V.; Chernogor, Leonid F.

    2010-05-01

    Possible changes in sporadic-E plasma irregularities resulted from an electron temperature rise in the layer are considered in this report. The increase in the electron temperature Te may be caused by the action of powerful radio wave on sporadic-E. We supposed that the action was not too strong and too long to change parameters of the neutral atmosphere noticeably. It was regarded that the sporadic-E in question is formed by a vertical shear of neutral zonal wind and is situated below the turbopause level. Hence, its mean features and irregular structure are mainly controlled by neutral atmospheric turbulence. It is known that an electron temperature rise has to result in the enhancement of ambipolar diffusion. It means that DA, the ambipolar diffusion coefficient, becomes larger than ?, the coefficient of kinematic viscousity of neutral gas. In terms of the theory of passive scalar convection the diffusion Prandtl number Pr = ?-DA becomes smaller than 1. To estimate consequence of an electron temperature rise for the sporadic-E plasma irregularities we derived formula for the spectrum of plasma density fluctuations generated by neutral turbulence in the layer that takes condition DA? ? into account. The formula was obtained in the framework of macroscopic description of three-component sporadic-E plasma. It allows us to write corresponding analytic expressions for , the mean-square level of relative plasma density fluctuations, and for ?, the radar backscatter cross-section per unit volume. The obtained formulae were applied to calculate possible changes in the sporadic-E irregular structure when the layer was situated in the mid-latitude ionosphere at the height of 97 km, and the ratio of the electron temperature to the neutral gas one Te-T0 took value from 1 to 10. The parameters of the layer were: an electron-density peak N0 = 7.6 × 1010 m-3, a thickness of 2 km, the neutral gas temperature T0 = 200 K, and the ratio of the ion gyrofrequency to ion-neutral collision frequency of 0.019 (it was supposed that the mean ion mass in the layer was about 51 a.u.m.). The mean rate of turbulent energy dissipation (the basic parameter of neutral turbulence) was 0.01 m2s-3 in our calculations. It was shown that the electron temperature rise results in a decrease in both the rms fluctuation level and the backscatter cross-section, and also changes the form of plasma irregularity spectrum. In the considered case under increasing in Te-T0 from 1 to 10, the level 1-2 (for plasma irregularities smaller than 400 m) has decreased from 0.097 to 0.085, and ? from 9.7 × 10-9 to 6.0 × 10-9 m-1 for the radar frequency of 5 MHz or from 9.6 × 10-12 to 5.9 × 10-12 m-1 for 50 MHz; at same time the spectral slope has increased, when it was approximated by a power law k-p then the power index p took values from 2.9 to 3.5. These changes are explained by decreasing in the cutoff wavenumber (or the Obukhov-Corrsin wavenumber) in the irregularity spectrum because of increase in DA, the corresponding length-scale has increased from 21.6 to 77.5 m in our case.

  12. High-throughput mutation profiling improves diagnostic stratification of sporadic medullary thyroid carcinomas.

    Science.gov (United States)

    Simbolo, Michele; Mian, Caterina; Barollo, Susi; Fassan, Matteo; Mafficini, Andrea; Neves, Diogo; Scardoni, Maria; Pennelli, Gianmaria; Rugge, Massimo; Pelizzo, Maria Rosa; Cavedon, Elisabetta; Fugazzola, Laura; Scarpa, Aldo

    2014-07-01

    Sporadic medullary thyroid carcinoma (MTC) harbors RET gene somatic mutations in up to 50 % of cases, and RAS family gene mutations occur in about 10 %. A timely and comprehensive characterization of molecular alterations is needed to improve MTC diagnostic stratification and design-tailored therapeutic approaches. Twenty surgically resected sporadic MTCs, previously analyzed for RET mutations by Sanger sequencing using DNA from formalin-fixed paraffin-embedded samples, were investigated for intragenic mutations in 50 cancer-associated genes applying a multigene Ion AmpliSeq next-generation sequencing (NGS) technology. Thirteen (65 %) MTCs harbored a RET mutation; 10 were detected at both Sanger and NGS sequencing, while 3 undetected by Sanger were revealed by NGS. One of the 13 RET-mutated cases also showed an F354L germline mutation in STK11. Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R). The three remaining MTCs (15 %) resulted as wild-type for all the 50 cancer-related genes. Follow-up was available in all but one RET-mutated case. At the end of follow-up, 7 of 12 (58 %) RET-mutated patients had relapsed, while the 4 RAS-mutated MTC patients were disease-free. Two of the three patients with MTC wild-type for all 50 genes relapsed during the follow-up period. Detection of mutations by NGS has the potential to improve the diagnostic stratification of sporadic MTC. PMID:24828033

  13. Identification of a novel strain of hepatitis E virus responsible for sporadic acute hepatitis in Taiwan.

    Science.gov (United States)

    Hsieh, S Y; Yang, P Y; Ho, Y P; Chu, C M; Liaw, Y F

    1998-08-01

    Hepatitis caused by the hepatitis E virus (HEV) is a self-limited disease and occurs most frequently as epidemic or sporadic hepatitis in developing countries. The role of HEV in sporadic acute hepatitis in areas without a history of hepatitis E epidemics is obscure. Recently, it was found that more than 10% of the patients with acute non-A, non-B, non-C hepatitis in Taiwan were associated with an acute HEV infection. Nucleotide sequences of the regions within the first open reading frame of HEV were determined in four cases and were 96.7-100% identical to each other. As compared to the isolates from China, Pakistan, Burma, India, Africa, and Mexico, the similarities were, however, only 71.7-79.3%. Phylogenetic analysis revealed that the four Taiwan isolates were categorized as a novel HEV group (the Taiwan strain), which was distinct from all of the strains isolated from other parts of the world. In addition, the isolates from China, Burma, India, and Pakistan were catalogued as the second genotype of HEV (the Asian strain), and the Mexican isolate as the third (the Mexican strain). The African isolate was more related to the Asian type and might be a subtype of the Asian strain. A simple genotyping method by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) is described. The findings also support the hypothesis that HEV may be responsible for some sporadic acute non-A, non-B, non-C hepatitis in other developed countries. PMID:9661839

  14. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

    Science.gov (United States)

    Soemedi, Rachel; Wilson, Ian J; Bentham, Jamie; Darlay, Rebecca; Töpf, Ana; Zelenika, Diana; Cosgrove, Catherine; Setchfield, Kerry; Thornborough, Chris; Granados-Riveron, Javier; Blue, Gillian M; Breckpot, Jeroen; Hellens, Stephen; Zwolinkski, Simon; Glen, Elise; Mamasoula, Chrysovalanto; Rahman, Thahira J; Hall, Darroch; Rauch, Anita; Devriendt, Koenraad; Gewillig, Marc; O' Sullivan, John; Winlaw, David S; Bu'Lock, Frances; Brook, J David; Bhattacharya, Shoumo; Lathrop, Mark; Santibanez-Koref, Mauro; Cordell, Heather J; Goodship, Judith A; Keavney, Bernard D

    2012-09-01

    Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex developmental phenotypes. However, the contribution of global CNV burden to the risk of sporadic congenital heart disease (CHD) remains incompletely defined. We generated genome-wide CNV data by using Illumina 660W-Quad SNP arrays in 2,256 individuals with CHD, 283 trio CHD-affected families, and 1,538 controls. We found association of rare genic deletions with CHD risk (odds ratio [OR] = 1.8, p = 0.0008). Rare deletions in study participants with CHD had higher gene content (p = 0.001) with higher haploinsufficiency scores (p = 0.03) than they did in controls, and they were enriched with Wnt-signaling genes (p = 1 × 10(-5)). Recurrent 15q11.2 deletions were associated with CHD risk (OR = 8.2, p = 0.02). Rare de novo CNVs were observed in ~5% of CHD trios; 10 out of 11 occurred on the paternally transmitted chromosome (p = 0.01). Some of the rare de novo CNVs spanned genes known to be involved in heart development (e.g., HAND2 and GJA5). Rare genic deletions contribute ~4% of the population-attributable risk of sporadic CHD. Second to previously described CNVs at 1q21.1, deletions at 15q11.2 and those implicating Wnt signaling are the most significant contributors to the risk of sporadic CHD. Rare de novo CNVs identified in CHD trios exhibit paternal origin bias. PMID:22939634

  15. 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.

  16. A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy.

    Science.gov (United States)

    Zhou, Wei; Zhao, Lan; Jiang, Jin-Qi; Jiang, Wei-Feng; Yang, Yi-Qing; Qiu, Xing-Biao

    2015-07-01

    Dilated cardiomyopathy (DCM) represents the most prevalent form of primary cardiomyopathy, and is the most common reason for heart transplantation and a major cause of congestive heart failure. Aggregating evidence demonstrates that genetic defects are associated with DCM, and a great number of mutations in >50 genes have been linked to DCM. However, DCM is a genetically heterogeneous disorder and the genetic components underpinning DCM in a significant proportion of patients remain unknown. In the present study, the coding exons and flanking exon?intron boundaries of the T-Box 5 (TBX5) gene, which encodes a T?box transcription factor required for normal cardiac development, were sequenced in 146 unrelated patients with sporadic DCM. The functional characteristics of the mutant TBX5 were assayed in contrast to its wild?type counterpart by using a dual?luciferase reporter assay system. As a result, a novel heterozygous TBX5 mutation, p.A143T, was identified in a patient with sporadic DCM. The missense mutation, which was absent in 400 control chromosomes, altered the amino acid that was completely conserved evolutionarily among species. Biological analyses revealed that the A143T mutation of TBX5 was associated with significantly decreased transcriptional activity on the promoter of the target gene atrial natriuretic factor (ANF), when compared to its wild?type counterpart. Furthermore, the A143T mutation abolished the synergistic activation of the ANF promoter between TBX5 and GATA binding protein 4 (GATA4), another crucial transcriptional factor for heart development. To the best of our knowledge, this is the first report on the association of a TBX5 loss?of?function mutation with an enhanced susceptibility to sporadic DCM, providing novel insight into the molecular mechanisms of the pathogenesis of DCM and suggesting potential implications for the prenatal prophylaxis and personalized treatment of this commonest primary myocardial disease. PMID:25963046

  17. 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.

  18. 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

  19. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

    OpenAIRE

    Soemedi, R; Wilson, IJ; Bentham, J; Darlay, R; Töpf, A; Zelenika, D.; Cosgrove, C; Setchfield, K; Thornborough, C; Granados-Riveron, J; Blue, GM; Breckpot, J; Hellens, S; Zwolinkski, S; Glen, E

    2012-01-01

    Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex developmental phenotypes. However, the contribution of global CNV burden to the risk of sporadic congenital heart disease (CHD) remains incompletely defined. We generated genome-wide CNV data by using Illumina 660W-Quad SNP arrays in 2,256 individuals with CHD, 283 trio CHD-affected families, and 1,538 controls. We found association of rare genic deletions with CHD risk (odds ratio [OR] = 1.8, p = 0...

  20. Schedulability analysis for a combination of preemptive strict periodic tasks and sporadic tasks

    OpenAIRE

    Marouf, Mohamed; George, Laurent; Sorel, Yves

    2011-01-01

    We consider the problem of scheduling tasks with strict periods combined with sporadic tasks. Both types of task have fixed priorities and are preemptive. For a task with a strict period, %it is necessary to prove that for any job of the task, the difference between its starting time and its release time must be identical for every job. Tasks with strict periods are typically in charge of controlling the activities of a system (sensor/actuator, feedback control, ect.). The freshness of the in...

  1. 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 astrocy...

  2. Isolated sporadic bilateral split hand malformation: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Manjit Singh

    2014-12-01

    Full Text Available Typical cleft hand is a rare disorder usually inherited in an autosomal-dominant manner. We report a case of bilateral typical cleft hand in a 6-year-old male. There was no positive family history of such presentation, and no systemic manifestations were associated with this entity. Preanesthetic evaluation revealed no systemic or airway challenges and parents were counseled for routine surgical and anesthetic risks. The hands underwent successful surgical reconstruction with no peri-operative complications. To the best of our knowledge, this is the first report of an operated case of an isolated, bilateral, and sporadic typical split hand malformation.

  3. Giant Sporadic Low Grade Malignant Peripheral Nerve Sheath (MPNST) of Left Thigh

    OpenAIRE

    Dhiraj B. Nikumbh; Suryawanshi, K.H.; Dravid, N.V; Patil, T.B.; Rokade, C.M.

    2013-01-01

    Malignant Peripheral Nerve Sheath Tumours (MPNST) are rare spindle- cell sarcomas which are derived from the schwann cells or the pleuripotent cells of the neural crest. MPNSTs are usually located in the peripheral nerve trunk roots, extremities and in the head and neck region. These tumours may arise as sporadic variants or in patients with neurofibromatosis1 (NF1). The estimated incidence of MPNSTs in the patients with NF1is 2-5% as compared to a 0.001% incidence in the general population. ...

  4. A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.

    Science.gov (United States)

    Conforti, F L; Sprovieri, T; Mazzei, R; Ungaro, C; La Bella, V; Tessitore, A; Patitucci, A; Magariello, A; Gabriele, A L; Tedeschi, G; Simone, I L; Majorana, G; Valentino, P; Condino, F; Bono, F; Monsurrò, M R; Muglia, M; Quattrone, A

    2008-01-01

    Mutations in the Angiogenin gene (ANG) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutation in the signal peptide of the ANG gene in a sporadic patient with ALS (SALS). The molecular analysis of the ANG gene also demonstrated an allelic association with the rs11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients. Our finding supports the evidence that the ANG gene is involved in ALS. PMID:17703939

  5. 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

  6. Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome.

    Science.gov (United States)

    Durieux, Emeline; Descotes, Françoise; Nguyen, Anh-Minh; Grange, Jean Daniel; Devouassoux-Shisheboran, Mojgan

    2015-05-01

    Germline DICER1 gene mutation has been described in ocular medulloepithelioma associated with pleuropulmonary blastoma family tumor and dysplasia syndrome. We present a case of sporadic ocular medulloepithelioma in an 18-year-old woman with D1709N somatic mutation in DICER1 gene, which has not been previously described. This case highlights the potential use of DICER1 gene sequencing to resolve the diagnostic challenge in recurrent and metastatic malignant medulloepithelioma, when morphology and immunohistochemistry are inconclusive. Further studies in larger series of this type of tumor are needed to confirm the relevance of this molecular abnormality in the tumorigenesis of this embryonic-type ocular tumor. PMID:25791583

  7. Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report

    OpenAIRE

    Cracco Laura; Zou Wen-Quan; Maddox Ryan A; Schonberger Lawrence B; Moody Karen M; Cali Ignazio

    2011-01-01

    Abstract Background Sporadic fatal insomnia (sFI) and fatal familial insomnia (FFI) are rare human prion diseases. Case Presentation We report a case of a 33-year-old female who died of a prion disease for whom the diagnosis of sFI or FFI was not considered clinically. Following death of this patient, an interview with a close family member indicated the patient's illness included a major change in her sleep pattern, corroborating the reported autopsy diagnosis of sFI. Genetic tests identifie...

  8. 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

    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 according to Mismatch Repair mutation status and family pedigree. Sporadic cases had no known family history of cancer. Patient characteristics, geographic differences and survival data were analyzed. RESULTS: The overall survival (OS) was better in HNPCC patients compared to sporadic CC after stratification for sex and age (p=0.02; CI 1.04-1.7). The 5-year survival was 70% in HNPCC patients compared with 56% in sporadic CC (p

  9. 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

  10. 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.

  11. Acute sporadic non-A, non-B hepatitis in Greece.

    Science.gov (United States)

    Tassopoulos, N C; Alikiotis, M; Limotirakis, F; Nicolakakis, P; Mela, H; Paralogou-Ioannides, M

    1988-09-01

    The influence of non-A, non-B (NANB) agent(s) on the aetiology of acute sporadic viral hepatitis and its possible transition to chronic hepatitis were studied. Acute sporadic NANB hepatitis was diagnosed in 134 (13.5%) of the 993 Greek adults who were admitted consecutively to the Western Attica General Hospital from February 1986 to September 1987. The male to female ratio was 2.1:1, and the mean age of the patients was 39.7 +/- 17.5 years (range: 16-77 years). Serological markers of past hepatitis B virus infection were detected in 32.1% of the patients. Possible risk factors occurring within 6 months of the onset of hepatitis were parenteral drug abuse in 43 (32.1%), blood transfusions in 26 (19.4%), possibly iatrogenic in 22 (16.4%), homosexual practice in one (0.7%) and no recognized risk factors in 42 (31.4%) patients. The most common source of infection was parenteral drug abuse (65%) in patients less than 30 years old and unknown (41.9%) in patients older than 30 years old. Chronic hepatitis, defined by biochemical criteria, was observed in 55.6% of the cases irrespective of the risk factor. These data show that parenteral drug abuse made a significant contribution to the spread of NANB agent(s) but not homosexual practice and that the rate of chronicity was high. PMID:3141583

  12. Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors.

    Science.gov (United States)

    Costa, Marcia Helena Soares; Latronico, Ana Claudia; Martin, Regina Matsunaga; Barbosa, Angela S; Almeida, Madson Q; Lotfi, Claudimara Ferini Pacicco; Valassi, Helena P Lima; Nishi, Mirian Yumie; Lucon, Antonio Marmo; Siqueira, Sheila Aparecida; Zerbini, Maria Claudia Nogueira; Carvalho, Luciani Renata; Mendonca, Berenice Bilharinho; Fragoso, Maria Candida Barisson Villares

    2009-02-01

    Glucose-dependent insulinotropic peptide receptor (GIPR) and LHCGR are G-protein-coupled receptors with a wide tissue expression pattern. Aberrant expression of these receptors has rarely been demonstrated in adult sporadic adrenocortical tumors with a lack of data on pediatric tumors. We quantified the GIPR and LHCGR expression in a large cohort of 55 patients (25 children and 30 adults) with functioning and non-functioning sporadic adrenocortical tumors. Thirty-eight tumors were classified as adenomas whereas 17 were carcinomas. GIPR and LHCGR expression were analyzed by real-time PCR and normal human pancreatic and testicular tissue samples were used as positive controls. Mean expression values were determined by fold increase in comparison with a normal adrenal pool. GIPR mRNA levels were significantly higher in adrenocortical carcinomas than in adenomas from both pediatric and adult groups. LHCGR expression was similar in both carcinomas and adenomas from the pediatric group but significantly lower in carcinomas than in adenomas from the adult group (median 0.06 and 2.3 respectively, P<0.001). GIPR was detected by immunohistochemistry in both pediatric and adult tumors. Staining and real-time PCR results correlated positively only when GIPR mRNA levels were increased at least two-fold in comparison with normal adrenal expression levels. In conclusion, GIPR overexpression was observed in pediatric and adult adrenocortical tumors and very low levels of LHCGR expression were found in all adult adrenocortical carcinomas. PMID:18971217

  13. 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.

  14. Risk factors for sporadic cryptosporidiosis among immunocompetent persons in the United States from 1999 to 2001.

    Science.gov (United States)

    Roy, Sharon L; DeLong, Stephanie M; Stenzel, Sara A; Shiferaw, Beletshachew; Roberts, Jacquelin M; Khalakdina, Asheena; Marcus, Ruthanne; Segler, Suzanne D; Shah, Dipti D; Thomas, Stephanie; Vugia, Duc J; Zansky, Shelley M; Dietz, Vance; Beach, Michael J

    2004-07-01

    Many studies have evaluated the role of Cryptosporidium spp. in outbreaks of enteric illness, but few studies have evaluated sporadic cryptosporidiosis in the United States. To assess the risk factors for sporadic cryptosporidiosis among immunocompetent persons, a matched case-control study was conducted in seven sites of the Foodborne Diseases Active Surveillance Network (FoodNet) involving 282 persons with laboratory-identified cryptosporidiosis and 490 age-matched and geographically matched controls. Risk factors included international travel (odds ratio [OR] = 7.7; 95% confidence interval [95% CI] = 2.7 to 22.0), contact with cattle (OR = 3.5; 95% CI = 1.8 to 6.8), contact with persons >2 to 11 years of age with diarrhea (OR = 3.0; 95% CI = 1.5 to 6.2), and freshwater swimming (OR = 1.9; 95% CI = 1.049 to 3.5). Eating raw vegetables was protective (OR = 0.5; 95% CI = 0.3 to 0.7). This study underscores the need for ongoing public health education to prevent cryptosporidiosis, particularly among travelers, animal handlers, child caregivers, and swimmers, and the need for further assessment of the role of raw vegetables in cryptosporidiosis. PMID:15243043

  15. HER2 Amplification Has no Prognostic Value in Sporadic and Hereditary Ovarian Tumours

    Directory of Open Access Journals (Sweden)

    Bro?ek Izabela

    2006-11-01

    Full Text Available Abstract Whereas HER2 amplification is a well-known phenomenon in breast tumours, its frequency and clinical importance in ovarian cancer have not been established. The aim of the study was to compare the frequency of HER2 amplification in hereditary (BRCA-positive and sporadic (BRCA-negative ovarian tumours and to estimate the association of this gene alteration on clinical outcome in ovarian cancer patients. We analysed HER2 amplification in 53 ovarian tumours: 20 from mutation carriers (18 in BRCA1 and 2 in BRCA2 gene and 33 from non-carriers. Fluorescence in situ hybridization for HER2 was performed on 'touch' slides from frozen tumour samples or formalin-fixed, paraffin-embedded tissue. Our results indicate that high amplification (HER2: centromere ratio>5 is an infrequent phenomenon in ovarian tumours (6/53 cases. It occurs in both hereditary (4/20 and sporadic (2/33 tumours and no difference in the frequency of HER2 amplification exists between these groups. There is no significant difference in the clinical outcome of patients with HER2 amplified and non-amplified tumours (p = 0.3. Our results suggest a different biological role of HER2 amplification in ovarian and breast cancer.

  16. 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

  17. 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.

  18. Risk Factors for Sporadic Cryptosporidiosis among Immunocompetent Persons in the United States from 1999 to 2001

    Science.gov (United States)

    Roy, Sharon L.; DeLong, Stephanie M.; Stenzel, Sara A.; Shiferaw, Beletshachew; Roberts, Jacquelin M.; Khalakdina, Asheena; Marcus, Ruthanne; Segler, Suzanne D.; Shah, Dipti D.; Thomas, Stephanie; Vugia, Duc J.; Zansky, Shelley M.; Dietz, Vance; Beach, Michael J.

    2004-01-01

    Many studies have evaluated the role of Cryptosporidium spp. in outbreaks of enteric illness, but few studies have evaluated sporadic cryptosporidiosis in the United States. To assess the risk factors for sporadic cryptosporidiosis among immunocompetent persons, a matched case-control study was conducted in seven sites of the Foodborne Diseases Active Surveillance Network (FoodNet) involving 282 persons with laboratory-identified cryptosporidiosis and 490 age-matched and geographically matched controls. Risk factors included international travel (odds ratio [OR] = 7.7; 95% confidence interval [95% CI] = 2.7 to 22.0), contact with cattle (OR = 3.5; 95% CI = 1.8 to 6.8), contact with persons >2 to 11 years of age with diarrhea (OR = 3.0; 95% CI = 1.5 to 6.2), and freshwater swimming (OR = 1.9; 95% CI = 1.049 to 3.5). Eating raw vegetables was protective (OR = 0.5; 95% CI = 0.3 to 0.7). This study underscores the need for ongoing public health education to prevent cryptosporidiosis, particularly among travelers, animal handlers, child caregivers, and swimmers, and the need for further assessment of the role of raw vegetables in cryptosporidiosis. PMID:15243043

  19. Lidar observations of sporadic Na layers over Gadanki (13.5° N, 79.2° E

    Directory of Open Access Journals (Sweden)

    D. Narayana Rao

    2007-08-01

    Full Text Available We studied the characteristics of sporadic sodium layers (SSLs observed with the sodium (Na resonance scattering lidar at Gadanki (13.5° N, 79.2° E. The SSLs were observed on a total of 63 occasions during 464 h of Na lidar observations from January 2005 to February 2006. The observations showed that one SSL event occurred, on average, every 7 h. The most prominent sporadic layer, which formed on 12 February 2005, exhibited a peak density of 60 722 Na atoms/cm³ around 92 km and it was nearly twice the peak density reported from elsewhere using ground-based observations. In general, the SSLs exhibited the following characteristics: (1 they developed at heights between 88 and 98 km with an average height around 94 km; (2 maximum density occurred during the early morning hours between 02:00 and 05:00 IST; (3 the ratio of the maximum peak Na density to the average density was normally around 3 to 5 and it exceeded even 10 in some cases; (4 the events lasted from a few minutes to several hours. The formation period of the SSLs was longer compared to the decay period of the SSLs. Most of the SSL events showed downward motions.

  20. "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.

  1. Influence of Poly(ethylene glycol) Degradation on Voiding Sporadically Occurring in Solder Joints with Electroplated Cu

    Science.gov (United States)

    Wafula, F.; Yin, L.; Borgesen, P.; Andala, D.; Dimitrov, N.

    2012-07-01

    This paper presents a comprehensive study of the effect of poly(ethylene glycol) (PEG) degradation on the void formation known to take place sporadically at the interface between electroplated Cu and Pb-free solder. Thorough chemical analysis of our plating solution, carried out at different times of the deposition process by matrix-assisted laser desorption ionization time-of-flight mass spectroscopy, reveals a dramatic shift in the peaks to lower mass range with time. Scanning electron microscopy cross-sectional images of solder joints with Cu samples that have been plated at different times in the course of solution aging show a decrease in void formation. A decreasing magnitude of the deposition overpotential also seen during aging suggests that, breaking down to lower-molecular-weight fragments, PEG loses its suppression effect and likely has lower impact on the voiding propensity. This indirect correlation is confirmed further by the use of plating solutions containing PEG with preselected molecular weight. We also report on the effect of the surface area-to-solution volume ratio on PEG degradation studied by comparative experiments performed in a 50-mL bath with a rotating disc electrode and in a larger cell (Hull cell) with volume of 267 mL. The results show that, at fixed charge per unit volume, PEG degrades at a greatly accelerated rate in the Hull cell featuring higher electrode surface-to-solution volume ratio. Analysis of solder joints with accordingly grown Cu layers suggests that the voiding decreases faster with the accelerated rate of PEG degradation.

  2. Clinical impact of detection of loss of heterozygosity of BRCA1 and BRCA2 markers in sporadic breast cancer.

    OpenAIRE

    Beckmann, M. W.; Picard, F.; An, H. X.; Roeyen, C. R.; Dominik, S. I.; Mosny, D. S.; Schnu?rch, H. G.; Bender, H. G.; Niederacher, D.

    1996-01-01

    The development of familial and sporadic breast cancer is based on genetic alterations of tumour-suppressor genes, for which loss of heterozygosity (LOH) is one mechanism of gene inactivation. To investigate LOH of BRCA1 (17q21) and BRCA2 (13-q12-13) in sporadic breast cancer, polymerase chain reaction (PCR)-based fluorescent DNA technology for detection of microsatellite polymorphisms was applied. A total of 137 breast cancer and 15 benign breast specimens with matched normal tissue were exa...

  3. Identification of chromosome aberrations in sporadic microsatellite stable and unstable colorectal cancers using array comparative genomic hybridization

    DEFF Research Database (Denmark)

    Jensen, Thomas DyrsØ; Li, Jian

    2011-01-01

    Colorectal cancer (CRC) is one of the most common cancers in Denmark and in the western world in general, and the prognosis is generally poor. According to the traditional molecular classification of sporadic colorectal cancer, microsatellite stable (MSS)/chromosome unstable (CIN) colorectal cancers constitute approximately 85% of sporadic cases, whereas microsatellite unstable (MSI) cases constitute the remaining 15%. In this study, we used array comparative genomic hybridization (aCGH) to identify genomic hotspot regions that harbor recurrent copy number changes. The study material comprised fresh samples from 40 MSS tumors and 20 MSI tumors obtained from 60 Danish CRC patients. We identified five small genomic regions (

  4. Identification of chromosome aberrations in sporadic microsatellite stable and unstable colorectal cancers using array comparative genomic hybridization

    DEFF Research Database (Denmark)

    Jensen, Thomas DyrsØ; Li, Jian

    2011-01-01

    Colorectal cancer (CRC) is one of the most common cancers in Denmark and in the western world in general, and the prognosis is generally poor. According to the traditional molecular classification of sporadic colorectal cancer, microsatellite stable (MSS)/chromosome unstable (CIN) colorectal cancers constitute approximately 85% of sporadic cases, whereas microsatellite unstable (MSI) cases constitute the remaining 15%. In this study, we used array comparative genomic hybridization (aCGH) to identify genomic hotspot regions that harbor recurrent copy number changes. The study material comprised fresh samples from 40 MSS tumors and 20 MSI tumors obtained from 60 Danish CRC patients. We identified five small genomic regions (

  5. Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda.

    Science.gov (United States)

    Lamoril, J; Andant, C; Bogard, C; Puy, H; Gouya, L; Pawlotsky, J M; Da Silva, V; Soulé, J C; Deybach, J C; Nordmann, Y

    1998-03-01

    From 1995 to 1997, we prospectively evaluated the prevalence of hepatitis C virus (HCV) RNA in 124 patients with porphyria cutanea tarda (PCT) from Northern France (83 sporadic and 41 familial PCT). Serum samples were analyzed for ferritin, transaminases, HCV antibodies, and HCV RNA. In addition, genotyping of HCV and searches for HCV infection risk factors (blood transfusion, iv drug abuse, and surgical intervention) were performed. Twenty-six of 124 patients (21%; 95% CI: 13.9-28) were positive for serum HCV antibodies. All of them were also positive for HCV RNA. The prevalence of HCV infection was higher in the sporadic PCT group (26.5%, 22 out of 83) than in the familial PCT group (9.7%, 4 out of 41). Risk factors for hepatitis C infection were found to be significantly increased in the HCV-positive group when compared with the HCV-negative PCT group. In all HCV-positive patients with a risk factor, the suspected date of exposure to the virus always preceded the clinical onset of PCT. The HCV genotype pattern in PCT patients was similar to that observed in nonporphyric HCV patients in western European countries. Serum ferritin level was increased in both HCV-positive and HCV-negative porphyric patients. Transaminase levels were significantly higher in HCV-infected PCT patients. Sixty-seven out of 124 patients were retrospectively studied for hepatitis G virus (HGV) infection. Six of these 67 patients (8.9%; 95% CI: 2.1-15.8) were positive for HGV RNA. None of the six HGV-infected patients were positive for HCV RNA. The HGV-infected patients did not differ statistically from those without HGV infection with regard to age, ferritin, transaminase levels, and PCT treatment. These results support the view that sporadic cases of HGV infection may occur frequently. This study of a large cohort of HCV and PCT patients further documents an increasing gradient in HCV prevalence from northern to southern Europe, and shows that HCV infection acts as a triggering factor of PCT. Finally, the HGV prevalence found in the PCT patients was comparable with that found in French blood donors, suggesting that HGV is not a PCT triggering factor. PMID:9500716

  6. 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.

  7. Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease.

    Science.gov (United States)

    Rahner, Nils; Holzmann, Carsten; Krüger, Rejko; Schöls, Ludger; Berger, Klaus; Riess, Olaf

    2002-09-27

    Mutations in two genes, alpha-synuclein and parkin, have been identified as some rare causes for familial Parkinson's disease (PD). alpha-Synuclein and parkin protein have subsequently been identified in Lewy bodies (LB). To gain further insight into the pathogenesis of PD we investigated the role of neurofilament light (NF-L), another component of LB aggregation. A detailed mutation search of the NF-L gene in 328 sporadic and familial PD patients of German ancestry revealed three silent DNA changes (G163A, C224T, C487T) in three unrelated patients. Analysis of the promoter region of the NF-L gene identified a total of three base pair substitutions defining five haplotypes. Association studies based on these haplotypes revealed no significant differences between PD patients and 344 control individuals. Therefore, NF-L is unlikely to play a major role in the pathogenesis of PD. PMID:12231460

  8. Detection of tumor mutant APC DNA in plasma of patients with sporadic colorectal cancer.

    Science.gov (United States)

    Ling, E; Fich, A; Man, S; Wolfson, M; Mikhailowsky, R; Lamprecht, S A

    2000-01-01

    The aim of this study was to detect mutant APC DNA of tumor origin in the plasma of patients with sporadic colorectal carcinomas. The polymerase chain reaction (PCR) and the single strand conformation polymorphism (SSCP) procedures were employed to detect DNA alterations using primers to amplify the mutation cluster region of the APC gene. APC mutations were observed in 7 out of 11 archival colonic tumor specimens examined. Matching mutations in free plasma DNA of tumor origin were detected in 3 of the 7 patients (42.8%). The results of this preliminary report indicated the presence of APC DNA in plasma harboring the identical abnormal molecular signature of tumor APC DNA. Detection methods of mutant APC DNA in blood may prove useful in the screening and monitoring of patients at risk of or with colorectal cancer. PMID:10945171

  9. Screening for sporadic or familial medullary thyroid carcinoma. Scintiscan s and radio-immunotherapy

    International Nuclear Information System (INIS)

    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)

  10. Observations of peculiar sporadic sodium structures and their relation with wind variations

    Science.gov (United States)

    Sridharan, S.; Prasanth, P. Vishnu; Kumar, Y. Bhavani; Ramkumar, Geetha; Sathishkumar, S.; Raghunath, K.

    2009-04-01

    Resonance lidar observations of sodium density in the upper mesosphere region over Gadanki (13.5°N, 79.2°E) rarely show complex structures with rapid enhancements of sodium density, completely different from normal sporadic sodium structures. The hourly averaged meteor radar zonal winds over Trivandrum (8.5°N, 76.5°E) show an eastward shear with altitude during the nights, when these events are formed. As suggested by Kane et al. [2001. Joint observations of sodium enhancements and field-aligned ionospheric irregularities. Geophysical Research Letters 28, 1375-1378], our observations show that the complex structures may be formed due to Kelvin-Helmholtz instability, which can occur in the region of strong wind shear.

  11. Familial genes in sporadic disease: Common variants of ?-Synuclein gene associate with Parkinson’s disease

    Science.gov (United States)

    Ross, Owen A.; Gosal, David; Stone, Jeremy T.; Lincoln, Sarah J.; Heckman, Michael G.; Irvine, Brent G.; Johnston, Janet A.; Gibson, J. Mark; Farrer, Matthew J.; Lynch, Timothy

    2007-01-01

    Genetic variation of the ?-synuclein gene (SNCA) is known to cause familial parkinsonism, however the role of SNCA variants in sporadic Parkinson’s disease (PD) remains elusive. The present study identifies an association of common SNCA polymorphisms with disease susceptibility in a series of Irish PD patients. There is evidence for association with alternate regions, of protection and risk which may act independently/synergistically, within the promoter region (Rep1; OR: 0.59, 95% CI: 0.37 – 0.84) and the 3?UTR of the gene (rs356165; OR: 1.67, 95% CI: 1.08 – 2.58). Given previous reports of association a collaborative effort is required which may exploit global linkage disequilibrium patterns for SNCA and standardise polymorphic markers used in each population. It is now crucial to identify the susceptibility allele and elucidate its functionality which may generate a therapeutic target for PD. PMID:17531291

  12. Travelling ionosphere disturbances and the sporadic F2 layer in the mean latitude ionosphere

    International Nuclear Information System (INIS)

    The results of the investigation of relation between travelling ionospheric disturbances (TID) and the sporadic F2s layer in the day time in the mean latitudes are reported. It is shown that TID can lead to formation of the F2s layer. In winter, during the period of low solar activity when the F2 layer maximum is the lowest, TID leads to F2 layer formation mostly propagating in the meridional plane to the equator. In winter during the period of high solar activity registered in the Nsub(m)F2 layer medium scale TID are mostly propagated in the zonal direction and do not lead to F2s formation

  13. Correlation between smoking history and molecular pathways in sporadic colorectal cancer: a meta-analysis

    Science.gov (United States)

    Chen, Ke; Xia, Guanggai; Zhang, Changhua; Sun, Yunwei

    2015-01-01

    Background: Epidemiological studies have shown that smoking increases the risk for colorectal cancer (CRC). Evidence of the guiding significance of smoking history for molecular classification and molecular targeted anti-tumor therapy is not well established. Aims: To provide indirectly evidence, we conducted a systematic meta-analysis of association between smoking history and different molecular classification. Methods: We searched in multiple databases up to January 2014, and identified 27 eligible studies. All studies were divided into seven groups based on different molecular alteration categories, which are MSI, CIMP, and three molecular pathway-associated gene alterations (APC, KRAS, P53, BRAF mutation, and APC methylation). Crude odds ratios (ORs) and their 95% confidence intervals (CIs) were calculated to evaluate the association. Results: Smoking showed a significantly positive correlation with P53 mutation (exons 4 to 8), BRAF (codon 600) mutation, MSI positivity, and CIMP positivity, with ORs of 1.25 (95% CI: 1.07-1.45), 1.41 (95% CI: 1.18-1.68), 1.28 (95% CI: 1.12-1.47), and 1.23 (95% CI: 1.01-1.50), respectively. However, smoking was not positively correlated with APC (mutation cluster region) and KRAS (codons 12 and 13) mutation in sporadic CRC patients. Conclusions: These findings suggested smoking history occurred with P53 mutation, BRAF mutation, MSI positivity, and CIMP positivity in sporadic CRCs; and could guide those specifically therapeutic designs when molecular classification with genetic test was infeasible. More associated studies should be conducted for strengthening and renewing the current result.

  14. 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.

  15. MM2-thalamic-type sporadic Creutzfeldt-Jakob disease with widespread neocortical pathology.

    Science.gov (United States)

    Hirose, Kazunori; Iwasaki, Yasushi; Izumi, Masayuki; Yoshida, Mari; Hashizume, Yoshio; Kitamoto, Tetsuyuki; Sahashi, Ko

    2006-10-01

    We report an autopsy case of MM2-thalamic-type sporadic Creutzfeldt-Jakob disease (sCJD) with widespread cerebral neocortical pathology. Initial symptoms were progressive insomnia and mental disturbance. Magnetic resonance imaging revealed no high-signal intensity lesions on diffusion-weighted images and later showed gradually progressive cerebral atrophy. Periodic synchronous discharges and myoclonus were not observed. Upon neuropathologic examination, widespread cerebral neocortical involvement with fine vacuole-type spongiform change was observed. Severe degeneration with almost complete neuronal loss, tissue rarefaction, numerous fat-laden macrophages and hypertrophic astrocytosis of the medial thalamic nucleus was evident. The inferior olivary nucleus showed severe involvement with neuronal loss and hypertrophic astrocytosis. In the cerebellar cortex, moderate depletion of Purkinje neurons was evident, with no spongiform change in the molecular layer and no neuronal loss in the granule cell layer. Immunohistochemistry for prion protein (PrP) revealed widespread synaptic-type deposits with some primitive plaque-type deposits in the cerebral neocortex, basal ganglia and cerebellar cortex. PrP deposition was also observed in the brainstem, particularly the tegmentum, substantia nigra and pontine nucleus, and spinal cord, particularly the posterior horn. In the medial thalamus and inferior olivary nucleus, PrP deposition was sparse. Analysis of the PrP gene showed no mutation but did show methionine homozygosity at polymorphic codon 129. Western blot analysis of protease-resistant PrP indicated the presence of type 2 PrP. We believe that this patient suffered from MM2-thalamic-type sCJD (sporadic fatal insomnia) with widespread cerebral neocortical pathology due to prolonged disease duration. The present case showed different patterns of spongiform degeneration and PrP deposition in the cerebral neocortex than those in previously reported MM2-thalamic-type sCJD cases. PMID:16957926

  16. Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis.

    Science.gov (United States)

    Zakrzewska-Pniewska, B; Styczynska, M; Podlecka, A; Samocka, R; Peplonska, B; Barcikowska, M; Kwiecinski, H

    2004-06-01

    The importance of apolipoprotein E (ApoE) and myeloperoxidase (MPO) genotypes in the clinical characteristics of multiple sclerosis (MS) has been recently emphasized. In a large group of Polish patients we have tested the hypothesis that polymorphism in ApoE and MPO genes may influence the course of the disease. Genotypes were determined in 117 MS patients (74 females and 43 males; 99 sporadic and 18 familial cases) with mean EDSS of 3.6, mean age of 44. 1 years, mean duration of the disease 12.8 years and mean onset of MS at 31.2 years, and in 100 healthy controls. The relationship between ApoE and MPO genes' polymorphism and the MS activity as well as the defect of remyelination (diffuse demyelination) and brain atrophy on MRI were analysed. The ApoE epsilon4 allele was not related to the disease course or the ApoE epsilon2 to the intensity of demyelination on MRI. The genotype MPO G/G was found in all familial MS and in 57% (56/99) of sporadic cases. This genotype was also related to more pronounced brain atrophy on MRI. The MPO G/G subpopulation was characterized by a significantly higher proportion of patients with secondary progressive MS (P < 0.05) and by a higher value of EDSS. According to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients. PMID:15222689

  17. 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.

  18. Body site of cutaneous malignant melanoma--a study on patients with hereditary and multiple sporadic tumours.

    Science.gov (United States)

    Gillgren, P; Brattström, G; Frisell, J; Palmgren, J; Ringborg, U; Hansson, J

    2003-06-01

    Individuals with an increased risk of developing cutaneous malignant melanoma (CMM) include members of kindreds with hereditary cutaneous malignant melanoma (HCMM) and patients who have already been treated for a CMM. Some of these patients develop multiple primary cutaneous malignant melanomas (MCMMs). Ultraviolet radiation is the main instigator of CMM. There are indications that patients in these high-risk groups react differently to sunlight than patients who develop a single sporadic CMM. The objectives of this study were to analyse tumour site in patients with HCMM and sporadic MCMM. Data on 2517 patients with 2608 CMMs from a population-based regional cancer registry were used. The new computer program EssDoll was used for the analyses of primary tumour sites. This software is able to analyse any chosen body area(s) with reference to the number of tumours arising there. When the site of the first and second tumours in patients with sporadic MCMM were analysed in a skin 'field division', there was a significant concordance with respect to site (P HCMM were compared with those in patients with a single sporadic CMM. In HCMM we found significantly fewer tumours in the head and neck area and more on the trunk. These differences remained significant in two different body area models, even when stratified for age (P HCMM. PMID:12777983

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

    Directory of Open Access Journals (Sweden)

    TakutoHideyama

    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. FHL2 expression in peritumoural fibroblasts correlates with lymphatic metastasis in sporadic but not in HNPCC-associated colon cancer.

    Science.gov (United States)

    Gullotti, Lucia; Czerwitzki, Jacqueline; Kirfel, Jutta; Propping, Peter; Rahner, Nils; Steinke, Verena; Kahl, Philip; Engel, Christoph; Schüle, Roland; Buettner, Reinhard; Friedrichs, Nicolaus

    2011-12-01

    Four and a half LIM domain protein-2 (FHL2) is a component of the focal adhesion structures and has been suggested to have an important role in cancer progression. This study analyses the role of FHL2 in peritumoural fibroblasts of sporadic and hereditary non-polyposis colorectal cancer (HNPCC). Tissue specimens of 48 sporadic and 49 hereditary colon cancers, respectively, were stained immunohistochemically for FHL2, transforming growth factor (TGF)-?1 ligand and ?-SMA. Myofibroblasts at the tumour invasion front co-expressed ?-SMA and FHL2. Sporadic colon cancer but not HNPCC cases showed a correlation between TGF-?1 expression of the invading tumour cells and FHL2 staining of peritumoural myofibroblasts. Overexpression of FHL2 in peritumoural myofibroblasts correlated to lymphatic metastasis in sporadic colon cancer but not in HNPCC. In cultured mouse fibroblasts, TGF-?1 treatment induced myofibroblast differentiation, stimulated FHL2 protein expression and elevated number of migratory cells in transwell motility assays, suggesting that FHL2 is regulated downstream of TGF-?. Physical contact of colon cancer cells and myofibroblasts via FHL2-positive focal adhesions was detected in human colon carcinoma tissue and in co-culture assays using sporadic as well as HNPCC-derived tumour cell lines. Our data provide strong evidence for an important role of FHL2 in the progression of colon cancers. Tumour-secreted TGF-?1 stimulates FHL2 protein expression in peritumoural fibroblasts, probably facilitating the invasion of tumour glands into the surrounding tissue by enhanced myofibroblast migration and tight connection of fibroblasts to tumour cells via focal adhesions. These findings are absent in HNPCC-associated colon cancers in vivo and may contribute to a less invasive and more protruding tumour margin of microsatellite instable carcinomas. PMID:21826055

  2. Downregulated miR-29c correlates with increased BACE1 expression in sporadic Alzheimer’s disease

    Science.gov (United States)

    Lei, Xiaofeng; Lei, Lijian; Zhang, Zhelin; Zhang, Zhiqing; Cheng, Yan

    2015-01-01

    Background: Beta-site Amyloid precursor protein Cleaving Enzyme 1 (BACE1) is conceived as a potential target for therapies against Alzheimer disease (AD) which is characterized by the accumulation of plaques formed of short ?-amyloid (APP?) peptides. Recently, such microRNAs, as miR-29a, miR-29b-1 have been shown to correlate with abnormally high levels of BACE1 and APP? in sporadic AD. Methods: In order to confirm whether miR-29c correlates with the BACE1 upregulation in sporadic AD, we firstly evaluated the expression of miR-29c and BACE1, the APP? accumulation in sporadic AD brain tissues and analyzed the correlation of miR-29c with BACE1. Then we determined the regulation of miR-29c in human heuroblastoma SH-SY5Y cells on the BACE1 expression and APP? accumulation. And finally we determined the targeting to 3’ UTR of BACE1 by miR-29c by a luciferase reporter. Results: It was demonstrated that miR-29c was downregulated in sporadic AD brains, in an association with an upregulation of BACE1 in both mRNA and protein level of BACE1, and also an elevated APP? accumulation. And the manipulated high level of miR-29c with miR-29c mimics transfection significantly reduced the protein level of BACE1 and APP? accumulation in human neuroblastoma SH-SY5Y cells. Further luciferase reporter assay demonstrated that miR-29c targets the 3’ UTR of BACE1 and downregulated the BACE1 in HEK293 cells. Conclusion: Present study indicated that miR-29c was downregulated in sporadic AD brains, and it targeted the 3’ UTR of BACE1, reduced the BACE1 expression, and downregulated the APP? accumulation in vitro.

  3. 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.

  4. The sporadic non-thermal profile of auroral 557.7 nm [OI

    Science.gov (United States)

    Ignatyev, V.; Nikolashkin, S.

    The rare case of a non-thermal profile of an emission 557.7 nm appearance in aurora during interferometric observations in January, 2000 on Maimaga observatory (63 N, 129.7 E, geogr.) is considered. On the basis of the analysis of the shape and half-width of a non-thermal profile of the line of auroral 557.7 nm [OI] is concluded, that its occurrence is caused by the transient sporadic intensification of the process of the dissociative recombination of the molecular ion of oxygen in restricted area of the ionospheric F layer. The calculation showed that in the moment of registration of dissociative profile on heights 200-220 kms the surplus concentration of oxygen ions of n(O2 +)~3104 cm-3 was produced as result of electron precipitation with energy of 0.02-0.4 keV . It is suggested that emission excitation process going with maximal probability in the recombination channel with the thermal energy radiation of ? d =0.83 eV.

  5. 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.

  6. 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.

  7. G1/S Cell Cycle Checkpoint Dysfunction in Lymphoblasts from Sporadic Parkinson's Disease Patients.

    Science.gov (United States)

    Esteras, Noemí; Alquézar, Carolina; Bartolomé, Fernando; de la Encarnación, Ana; Bermejo-Pareja, Félix; Molina, José Antonio; Martín-Requero, Angeles

    2014-09-01

    Parkinson's disease (PD) is the second most prevalent neurodegenerative disease among aging individuals, affecting greatly the quality of their life. However, the pathogenesis of Parkinson's disease is still incompletely understood to date. Increasing experimental evidence suggests that cell cycle reentry of postmitotic neurons precedes many instances of neuronal death. Since cell cycle dysfunction is not restricted to neurons, we investigated this issue in peripheral cells from patients suffering from sporadic PD and age-matched control individuals. Here, we describe increased cell cycle activity in immortalized lymphocytes from PD patients that is associated to enhanced activity of the cyclin D3/CDK6 complex, resulting in higher phosphorylation of the pRb family protein and thus, in a G1/S regulatory failure. Decreased degradation of cyclin D3, together with increased p21 degradation, as well as elevated levels of CDK6 mRNA and protein were found in PD lymphoblasts. Inhibitors of cyclin D3/CDK6 activity like sodium butyrate, PD-332991, and rapamycin were able to restore the response of PD cells to serum stimulation. We conclude that lymphoblasts from PD patients are a suitable model to investigate cell biochemical aspects of this disease. It is suggested that cyclin D3/CDK6-associated kinase activity could be potentially a novel therapeutic target for the treatment of PD. PMID:25182869

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

    DEFF Research Database (Denmark)

    Bahl, J.M.; Heegaard, N.H.

    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 Udgivelsesdato: 2009/11

  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. Magnetic storm associated delayed sporadic E enhancements in the Brazilian Geomagnetic Anomaly

    Energy Technology Data Exchange (ETDEWEB)

    Batista, I.S.; Abdu, M.A.

    1977-10-01

    Sporadic E layer behavior over Cachoeira Paulista (11/sup 0/57'S, 22/sup 0/32'E geomagnetic coordinates), located near the center of the Brazilian Geomagnetic Anomaly, is investigated during magnetically disturbed periods. Significant enhancements in the E/sub s/ layer parameters, f/sub t/E/sub s/ and f/sub b/E/sub s/ take place for short periods 2--3 hours) following a magnetic disturbance of moderate intensity. The enhancements, however, are delayed by 1--3 days with respect to the initiation of a disturbance. The electron density enhancement in the E/sub s/ layer inferred from f/sub b/E/sub s/ during such events are at times an order of magnitude larger than undisturbed values. Also, during some night events the ambient E region electron densities appear comparable to the regular daytime maximum values. The E/sub s/ traces in the ionograms during these events exhibit range spread in the echoes resembling the a-type E/sub s/, know to occur over auroral latitudes under disturbed conditions. These results are interpreted as evidence of enhanced charged particle precipitation in the E region over the geomagnetic anomaly following magnetic disturbances. The results also provide evidence that the E region response over our station is delayed with respect to magnetic activity.

  11. Sodium lidar observed gravity wave breaking event and its associated significant sodium sporadic layer

    Science.gov (United States)

    Ban, C.; Li, T.; Fang, X.; Dou, X.; Xiong, J.; Russell, J. M., III; Wu, Q.

    2014-12-01

    On the night of July 29th, 2013 (UT day 13210), the University of Science and Technology of China (USTC) sodium temperature/wind lidar, located at Hefei, China (31N, 117E), observed a significant zonal wind shear of -60 m/s/km near ~100 km between 13:15 and 13:30UT, accompanied with a significant cooling near 96-100 km lasting for 1 hr (13:30-14:30 UT). This suggested a significant gravity wave breaking possibly induced by the dynamic instability. The lidar zonal wind is compared with the wind observed by a meteor radar located at Wuhan, ~200 km west of lidar site, and the lidar temperature is compared with SABER temperature, the results further confirmed this possible significant gravity wave breaking event. After the wave breaking, the sodium density was suddenly enhanced by 10-12 times near 94km. Unlike most sporadic sodium layer (SSL) reported in the literatures, this SSL propagated upward, and passed the west lidar beam around 2min earlier than the east lidar beam (~ 50 km separated in the MLT region). The propagate direction of SSL is agreed with enhanced meridional wind observed by Wuhan meteor radar, indicating that this enhanced sodium layer is likely transported from the north of Hefei.

  12. Comparison of Abeta levels in the brain of familial and sporadic Alzheimer's disease.

    Science.gov (United States)

    Hellström-Lindahl, E; Viitanen, M; Marutle, A

    2009-09-01

    Mutations in presenilin (PS) and amyloid precursor protein (APP) genes are a predominant cause for early-onset familial Alzheimer disease (AD). Although these mutations are rare, they have in the past decades advanced our understanding of the underlying molecular mechanisms of AD. In the present study, Abeta levels were measured in cortical regions of APPsw and PS1 (M146V) mutation carriers, sporadic AD (SAD) and age-matched non-demented individuals. We found similar levels of soluble Abeta42, insoluble and soluble Abeta40 in both APPsw mutation carriers and SAD. However, lower levels of insoluble Abeta42 were detected in the frontal and temporal cortex of APPsw brain. In PS1 brain, insoluble Abeta40 and Abeta42 levels were significantly lower in all four cortical regions compared with SAD, whilst levels of Abeta40 were lower in frontal and occipital cortex compared with APPsw brain. The insoluble Abeta42/40 ratio was similar in SAD and APPsw but significantly higher in PS1 mutation carriers. Our results indicate that the pattern of Abeta deposition in PS1 mutation carriers differs from that in both APPsw and SAD, whereas the pattern in APPsw mutation carriers is more similar to that in SAD. PMID:19524115

  13. Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.

    Science.gov (United States)

    Council, M Laurin; Gardner, Jennifer M; Helms, Cynthia; Liu, Ying; Cornelius, Lynn A; Bowcock, Anne M

    2009-05-01

    The risks of developing malignant melanoma (MM) include ultraviolet irradiation and genetic factors. To examine the contribution of rare and common variation within known MM genes in sporadic US MM patients, coding regions of known MM susceptibility genes [cyclin-dependent kinase inhibitor 2A (CDKN2A), cyclin-dependent kinase 4, melanocortin 1 receptor (MC1R) and tyrosinase (TYR)] were resequenced in 109-135 MM cases. The significance of variants was examined by comparing their frequencies in 390 cancer-free controls. Potential deleterious mutations in CDKN2A were found in two patients and two others had variants of unknown significance. Cases were more likely than controls to harbour the MC1R'R' variants known or predicted to alter its function (P = 0.002), particularly the R160W variant (P = 0.0035). The associated TYR R402Q variant (rs1126809*A) was found in 29% of cases, similar to what has been described previously. One MM patient with a family history of MM, who had developed other skin cancers, was homozygous for a novel TYR variant (P406L) of unknown significance. Hence, rare variants in TYR may be important risk factors for skin cancer. PMID:19320745

  14. Invasive intraductal papillary mucinous neoplasm vs. sporadic pancreatic adenocarcinoma: a stage-matched comparison of outcomes

    Science.gov (United States)

    Wasif, Nabil; Bentrem, David J.; Farrell, James J.; Ko, Clifford Y.; Hines, Oscar J.; Reber, Howard A.; Tomlinson, James S.

    2010-01-01

    Introduction Although invasive intraductal papillary mucinous neoplasms (IPMN) of the pancreas is thought to be more indolent than sporadic pancreatic adenocarcinoma (PAC), the natural history remains poorly defined. We compare survival and identify prognostic factors following resection for invasive IPMN vs. stage-matched PAC. Methods The Surveillance, Epidemiology, and End Results (SEER) database (1991-2005) was utilized to identify 729 patients with invasive IPMN and 8082 patients with PAC who underwent surgical resection. Results Patients with resected invasive IPMN experienced improved overall survival when compared to resected PAC (median survival 21mos vs. 14mos, p2cm (HR 1.50, 95% CI 1.04- 2.19), and age >66 years (HR 1.33, 95% CI 1.03- 1.73) were adverse predictors of survival. Conclusions Although node negative invasive IPMN shows improved survival following resection compared to node negative PAC, the natural history of node positive invasive IPMN mimics that of node positive PAC. We also identify adverse predictors of survival in invasive IPMN to guide discussions regarding use of adjuvant therapies and prognosis following resection of invasive IPMN. PMID:20564064

  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. 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.

  17. 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

  18. Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report

    Directory of Open Access Journals (Sweden)

    Cracco Laura

    2011-10-01

    Full Text Available Abstract Background Sporadic fatal insomnia (sFI and fatal familial insomnia (FFI are rare human prion diseases. Case Presentation We report a case of a 33-year-old female who died of a prion disease for whom the diagnosis of sFI or FFI was not considered clinically. Following death of this patient, an interview with a close family member indicated the patient's illness included a major change in her sleep pattern, corroborating the reported autopsy diagnosis of sFI. Genetic tests identified no prion protein (PrP gene mutation, but neuropathological examination and molecular study showed protease-resistant PrP (PrPres in several brain regions and severe atrophy of the anterior-ventral and medial-dorsal thalamic nuclei similar to that described in FFI. Conclusions In patients with suspected prion disease, a characteristic change in sleep pattern can be an important clinical clue for identifying sFI or FFI; polysomnography (PSG, genetic analysis, and nuclear imaging may aid in diagnosis.

  19. 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

  20. 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.

  1. 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.

  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. 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.

  4. 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.

  5. The role of electric field and neutral wind in the generation of polar cap sporadic E

    Directory of Open Access Journals (Sweden)

    T. Nygrén

    2008-11-01

    Full Text Available This paper investigates the roles of electric field and neutral wind in the generation of sporadic-E layers within the polar cap. Two Es layers above Svalbard, observed by the EISCAT Svalbard Radar (ESR, were chosen for investigation. The radar experiment contains four beam directions, and this was used for determining the electric field. The neutral wind was obtained from the HWM93 model. Formation of Es layers was calculated by integrating the continuity equation under the action of driving forces due to neutral wind and electric field. A flat height profile of metal ions was assumed in the beginning. The calculation gives the time variation of the layer, which can be compared with observations. In one case the electric field was shown to be the main driving agent in layer generation. In the other case the electric field was weak and the layer was produced mainly by the neutral wind, but the electric field had influence on the height of the layer. A fairly good agreement between the variations of the observed and calculated layer altitudes was obtained and some agreement between the intensity variations was also found.

  6. 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.

  7. Ionospheric drift measurements in heights 90-150 km during sporadic E-layer occurrence using Digisonde DPS-4.

    Czech Academy of Sciences Publication Activity Database

    Kouba, Daniel; Šauli, Petra; Boška, Josef; Santolík, Ond?ej

    Chicago : U.R.S.I, 2008, -. ISBN N. ISSN N. [General assembly of URSI /29./. Chicago (US), 07.08.2008-16.08.2008] R&D Projects: GA AV ?R IAA300420704; GA ?R GA205/06/1267 Grant ostatní: European Union(XE) COST 296 (MIERS) Institutional research plan: CEZ:AV0Z30420517 Keywords : ionospheric plasma drift * sporadic E layer * radio sounding * Doppler shift Subject RIV: DG - Athmosphere Sciences, Meteorology

  8. Lack of mutations of exon 2 of the MEN1 gene in endocrine and nonendocrine sporadic tumors

    Directory of Open Access Journals (Sweden)

    Costa S.C.

    2001-01-01

    Full Text Available In addition to the mutations that underlie most cases of the multiple endocrine neoplasia type 1 (MEN1 syndrome, somatic mutations of the MEN1 gene have also been described in sporadic tumors like gastrinomas, insulinomas and bronchial carcinoid neoplasm. We examined exon 2 of this gene, where most of the mutations have been described, in 148 endocrine and nonendocrine sporadic tumors. DNA was obtained by phenol/chloroform extraction and ethanol precipitation from 92 formalin-fixed, paraffin-embedded samples, and from 40 fresh tumor tissue samples. We used 5 pairs of primers to encompass the complete coding sequence of exon 2 of the MEN1 gene that was screened by the polymerase chain reaction-single-stranded conformation polymorphism (PCR-SSCP technique in 78 sporadic thyroid cancers: 28 follicular adenomas, 35 papillary carcinomas, 14 follicular carcinomas, and 1 anaplastic thyroid carcinoma. We also examined 46 adrenal lesions (3 hyperplasias, 3 adenomas and 35 adrenocortical carcinomas, 2 pheochromocytomas, 2 ganglioneuroblastomas, and 1 lymphoma and 24 breast cancers (6 noninvasive, 16 infiltrating ductal, and 2 invasive lobular tumors. The PCR product of 5 tumors suspected to present band shifts by SSCP was cloned. Direct sense and antisense sequencing did not identify mutations. These results suggest that the MEN1 gene is not important in breast, thyroid or adrenal sporadic tumorigenesis. Because the frequency of mutations varies significantly among tumor subgroups and allelic deletions are frequently observed at 11q13 in thyroid and adrenal cancers, another tumor suppressor gene residing in this region is likely to be involved in the tumorigenesis of these neoplasms.

  9. [Salmonella serotypes isolated at the Ospedale Maggiore at Novara during the years 1966-1973 in sporadic cases of enteropathy].

    Science.gov (United States)

    Fortina, G; Farinetti, F; Comazzi, G

    1975-01-01

    In 12.858 sporadic cases of enteric diseases examined from 1966 to 1973 at the Hospital Laboratory of Novara 380 strains of Salmonella were isolated. 19 different serotypes were identified. A large number of serotypes (SS. panama, agona, muenster, hato, manhattan, israel, anatum, stanleyville, coeln, sandiego, indiana, paratyphi A, urbana, vejle, thompson, goettingen) were encountered for the first time in this region. PMID:1239398

  10. Molecular epidemiology of caliciviruses detected in sporadic and outbreak cases of gastroenteritis in France from December 1998 to February 2004

    OpenAIRE

    Bon, F.; Ambert-balay, K.; Giraudon, H.; Kaplon, J.; Le Guyader, S.; Pommepuy, M.; Gallay, A.; Vaillant, V.; Valk, H.; Chikhi-brachet, R.; Flahaut, A.; Pothier, P.; Kohli, E.

    2005-01-01

    We compiled sequence and epidemiological data from 172 caliciviruses detected in France from December 1998 to February 2004 in sporadic and outbreak cases. The results showed a cocirculation of strains with a majority of genogroup II (GII) noroviruses. Three groups of noroviruses, not detected before in our laboratory, emerged and spread during the period: the recombinant GGIIb and Norwalk-related strains not amplified in the polymerase gene in 2000 and a new Lordsdale variant in 2002. We obs...

  11. Lack of mutations of exon 2 of the MEN1 gene in endocrine and nonendocrine sporadic tumors

    Scientific Electronic Library Online (English)

    S.C., Costa; L.S., Nascimento; F.J., Ferreira; P.S., Mattos; L.H., Camara-Lopes; L.S., Ward.

    2001-07-01

    Full Text Available In addition to the mutations that underlie most cases of the multiple endocrine neoplasia type 1 (MEN1) syndrome, somatic mutations of the MEN1 gene have also been described in sporadic tumors like gastrinomas, insulinomas and bronchial carcinoid neoplasm. We examined exon 2 of this gene, where most [...] of the mutations have been described, in 148 endocrine and nonendocrine sporadic tumors. DNA was obtained by phenol/chloroform extraction and ethanol precipitation from 92 formalin-fixed, paraffin-embedded samples, and from 40 fresh tumor tissue samples. We used 5 pairs of primers to encompass the complete coding sequence of exon 2 of the MEN1 gene that was screened by the polymerase chain reaction-single-stranded conformation polymorphism (PCR-SSCP) technique in 78 sporadic thyroid cancers: 28 follicular adenomas, 35 papillary carcinomas, 14 follicular carcinomas, and 1 anaplastic thyroid carcinoma. We also examined 46 adrenal lesions (3 hyperplasias, 3 adenomas and 35 adrenocortical carcinomas, 2 pheochromocytomas, 2 ganglioneuroblastomas, and 1 lymphoma) and 24 breast cancers (6 noninvasive, 16 infiltrating ductal, and 2 invasive lobular tumors). The PCR product of 5 tumors suspected to present band shifts by SSCP was cloned. Direct sense and antisense sequencing did not identify mutations. These results suggest that the MEN1 gene is not important in breast, thyroid or adrenal sporadic tumorigenesis. Because the frequency of mutations varies significantly among tumor subgroups and allelic deletions are frequently observed at 11q13 in thyroid and adrenal cancers, another tumor suppressor gene residing in this region is likely to be involved in the tumorigenesis of these neoplasms.

  12. Stereotypic Movements in Case of Sporadic Creutzfeldt-Jakob Disease: Possible Role of Anti-NMDA Receptor Antibodies

    OpenAIRE

    Molina, Michelle; Fekete, Robert

    2012-01-01

    Sporadic Creutzfeldt-Jakob disease (sCJD) and anti-NMDA receptor antibody encephalitis (NMDAE) can both produce a rapidly progressive dementia with resulting state of catatonia or akinetic mutism. Both are associated with movement disorders. In published case series, myoclonus appears to be the most frequent movement disorder in sCJD, while stereotypic, synchronized, one-cycle-per-second movements such as arm or leg elevation, jaw opening, grimacing, head turning, and eye deviation are seen i...

  13. 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.; 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 ...

  14. Sporadic medullary thyroid carcinoma with a pedunculated intraluminal internal jugular vein recurrence: A case report and literature review

    OpenAIRE

    Patten, Darren K.; Flora, Rashpal; Tolley, Neil; Palazzo, Fausto

    2011-01-01

    Medullary thyroid carcinoma (MTC) is an uncommon usually slowly progressing neuroendocrine tumour that arises from calcitonin (CT) producing parafollicular C cells of the thyroid gland. It accounts for approximately 5% of all thyroid cancers. The majority of MTCs are sporadic (75%) whilst 25% are part of the MEN 2 hereditary syndrome (MEN 2A and MEN 2B and familial MTC). Mutations of the proto-oncogene, RET (Rearranged during Transfection), found on chromosome 10q11, are present in more than ...

  15. The role of the ?-synuclein gene mutation in patients with sporadic Parkinson's disease in the United Kingdom

    OpenAIRE

    Warner, T.; Schapira, A.

    1998-01-01

    Parkinson's disease is a common neurodegenerative disorder of unknown aetiology. A pathogenic point mutation within the ?-synuclein gene has recently been identified in one Italian-American kindred and three families of Greek origin with parkinsonism. DNA from 70 patients with Parkinson's disease was screened for this G209A mutation. No samples were positive for the mutation, suggesting that it is not relevant for most patients with sporadic idiopathic Parkinson's disease.??

  16. DNA large restriction fragment patterns of sporadic and epidemic nosocomial strains of Mycobacterium chelonae and Mycobacterium abscessus.

    OpenAIRE

    Wallace, R. J.; Zhang, Y.; Brown, B. A.; Fraser, V.; Mazurek, G. H.; Maloney, S.

    1993-01-01

    Large restriction fragment (LRF) pattern analysis of genomic DNA using pulsed-field gel electrophoresis was performed on three reference strains, 32 sporadic isolates, and 92 nosocomial isolates from 12 epidemics of Mycobacterium chelonae and Mycobacterium abscessus. Only 17 of 30 (57%) unrelated strains of M. abscessus, compared with 10 of 11 (91%) of M. chelonae strains, gave satisfactory DNA extractions, with the remainder resulting in highly fragmented DNA. DraI, AsnI, XbaI, and SpeI gave...

  17. 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.

  18. 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.

  19. 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.

  20. Temperature controlled icy dust reservoir of sodium: A possible mechanism for the formation of sporadic sodium layers

    Science.gov (United States)

    Qiu, Shican; Tang, Yihuan; Dou, Xiankang

    2015-06-01

    Using seven years, from 2006 to 2013, sodium lidar observations over Hefei, China (31.80°N, 117.3°E), we attempt to propose a possible mechanism for the formation of sporadic sodium layers (SSLs or NaS). We analyze the relationship between low temperature (falls below 150 K and it will absorb sodium atoms to form a solid sodium metal film as a sodium reservoir. The icy dust will then sublimate rapidly when meeting with warm air (e.g., 150 K 190 K and sometimes even >230 K) and form a sporadic sodium layer. Although not conclusive and highly uncertain, the icy dust reservoir model not only provides a good explanation for the observed characteristics of SSLs; it is also in good agreement with many other observations, such as the simultaneous sporadic sodium and iron layers, the behavior of SSLs on small time scale, the deviation of the sodium density profile of SSLs from the normal one, and the sharply decreased scale height above the peak of the sodium layer. These results further suggest that the icy dust might be a viable option of sodium reservoir for the formation of SSLs.

  1. Analysis of sporadic tuberous sclerosis patients with the TSC2 cDNA reveals several gene rearrangements and deletions

    Energy Technology Data Exchange (ETDEWEB)

    Wilson, P.J.; Short, M.P.; Bove, C. [Massachusetts General Hospital, Boston, MA (United States)] [and others

    1994-09-01

    Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by hamartomas and hamartias in many organs including brain, skin, heart and kidneys. Two TSC genes have been localized through linkage analysis, TSC1 to 9q34 and TSC2 to 16p13.3. TSC2 was recently cloned. The distribution of sporadic TSC patients between TSC1 and TSC2 is at present unknown, but tests of genetic heterogeneity in families suggest that each is equally represented. Genetic heterogeneity may account for some of the variation in clinical expression; however, there is no evidence at present to support differences in clinical phenotypes between the 2 genetic loci. With the isolation of the TSC2 gene we have commenced mutation studies of our familial and sporadic TSC patients. Thus far six chromosome 16-linked families have been screened with the TSC2 cDNA and no detectable changes were observed using Southern analysis. In addition, 85 sporadic TSC patients were analyzed by Southern analysis. Using multiple restriction digests, nine patients revealed altered patterns, including three patients that appeared to have complete deletions. RT-PCR was performed on these patients confirming that the TSC2 gene was deleted. However, the remaining patients showed normal patterns, indicating that they either have TSC1 mutations or they possess more subtle small deletions or point mutations. At present we are designing an SSCP-based approach to determine the nature of the mutations in our 16 linked TSC families.

  2. Genetic association of urokinase-type plasminogen activator gene rs2227564 site polymorphism with sporadic Alzheimer's disease in the Han Chinese population?

    OpenAIRE

    Ji, Xuelian; Jia, Longfei; Jia, Jianping; QI, LI

    2012-01-01

    A missense C/T polymorphism in exon 6 (the NCBI rsID is rs2227564) of the urokinase-type plasminogen activator gene has been identified as a possible hot spot for Alzheimer's disease risk. The present study analyzed urokinase-type plasminogen gene polymorphisms of rs2227564 with sporadic Alzheimer's disease by PCR-restriction fragment length polymorphism. Results showed that CC, CT and TT genotype distribution frequencies had significant differences between sporadic Alzheimer's disease patien...

  3. Aberrant IgA1 glycosylation is inherited in familial and sporadic IgA nephropathy.

    Science.gov (United States)

    Gharavi, Ali G; Moldoveanu, Zina; Wyatt, Robert J; Barker, Catherine V; Woodford, Susan Y; Lifton, Richard P; Mestecky, Jiri; Novak, Jan; Julian, Bruce A

    2008-05-01

    IgA nephropathy (IgAN) is a complex trait determined by genetic and environmental factors. Most IgAN patients exhibit a characteristic undergalactosylation of the O-glycans of the IgA1 hinge region, which promotes formation and glomerular deposition of immune complexes. It is not known whether this aberrant glycosylation is the result of an acquired or inherited defect, or whether the presence of aberrant IgA1 glycoforms alone can produce IgAN. A newly validated lectin enzyme-linked immunosorbent assay (ELISA) was used to determine the serum level of galactose-deficient IgA1 (Gd-IgA1) in a cohort of 89 IgAN patients and 266 of their relatives. High Gd-IgA1 levels (> or =95th percentile for controls) were observed in all 5 available patients with familial IgAN, in 21 of 45 (47%) of their at-risk relatives (assuming autosomal dominant inheritance), and in only 1 of 19 (5%) of unrelated individuals who married into the family. This provides evidence that abnormal IgA1 glycosylation is an inherited rather than acquired trait. Similarly, Gd-IgA1 levels were high in 65 of 84 (78%) patients with sporadic IgAN and in 50 of 202 (25%) blood relatives. Heritability of Gd-IgA1 was estimated at 0.54 (P = 0.0001), and segregation analysis suggested the presence of a major dominant gene on a polygenic background. Because most relatives with abnormal IgA1 glycoforms were asymptomatic, additional cofactors must be required for IgAN to develop. The fact that abnormal IgA1 glycosylation clusters in most but not all families suggests that measuring Gd-IgA1 may help distinguish patients with different pathogenic mechanisms of disease. PMID:18272841

  4. Aberrant IgA1 Glycosylation Is Inherited in Familial and Sporadic IgA Nephropathy

    Science.gov (United States)

    Gharavi, Ali G.; Moldoveanu, Zina; Wyatt, Robert J.; Barker, Catherine V.; Woodford, Susan Y.; Lifton, Richard P.; Mestecky, Jiri; Novak, Jan; Julian, Bruce A.

    2008-01-01

    IgA nephropathy (IgAN) is a complex trait determined by genetic and environmental factors. Most IgAN patients exhibit a characteristic undergalactosylation of the O-glycans of the IgA1 hinge region, which promotes formation and glomerular deposition of immune complexes. It is not known whether this aberrant glycosylation is the result of an acquired or inherited defect, or whether the presence of aberrant IgA1 glycoforms alone can produce IgAN. A newly validated lectin enzyme-linked immunosorbent assay (ELISA) was used to determine the serum level of galactose-deficient IgA1 (Gd-IgA1) in a cohort of 89 IgAN patients and 266 of their relatives. High Gd-IgA1 levels (?95th percentile for controls) were observed in all 5 available patients with familial IgAN, in 21 of 45 (47%) of their at-risk relatives (assuming autosomal dominant inheritance), and in only 1 of 19 (5%) of unrelated individuals who married into the family. This provides evidence that abnormal IgA1 glycosylation is an inherited rather than acquired trait. Similarly, Gd-IgA1 levels were high in 65 of 84 (78%) patients with sporadic IgAN and in 50 of 202 (25%) blood relatives. Heritability of Gd-IgA1 was estimated at 0.54 (P = 0.0001), and segregation analysis suggested the presence of a major dominant gene on a polygenic background. Because most relatives with abnormal IgA1 glycoforms were asymptomatic, additional cofactors must be required for IgAN to develop. The fact that abnormal IgA1 glycosylation clusters in most but not all families suggests that measuring Gd-IgA1 may help distinguish patients with different pathogenic mechanisms of disease. PMID:18272841

  5. Coupling of the Perkins instability and the sporadic E layer instability derived from physical arguments

    Science.gov (United States)

    Cosgrove, Russell B.; Tsunoda, Roland T.; Fukao, Shoichiro; Yamamoto, Mamoru

    2004-06-01

    [2001] recently pointed out that the F layer and sporadic E (Es) layers in the nighttime midlatitude ionosphere must be considered electrodynamically as a coupled system in light of the presence of a Hall polarization process in Es layers [, 1996; , 1998; , 2001, 2002a] and the fact that kilometer-scale electric fields map efficiently between the E and F regions. They further noted the apparent presence of positive feedback between processes in those regions. [2002b, 2003] have since shown that Es layers are unstable with properties not unlike those of the Perkins instability in the F region [, 1973], motivating the idea that the two instabilities may couple. Finally, [2004] derived the linear growth rate for the coupled system of a Es layer and the F layer, thus realizing a unified formalism for the Perkins and Es layer (EsL) instabilities. They found that the growth rate was significantly enhanced by the coupling. However, the growth rate computed in [2004] was expressed only as the largest eigenvalue of a very complex 3 × 3 matrix. In this paper we present a physical interpretation of the E-F coupled-layer (EFCL) instability, and derive the condition for maximal coupling. We obtain a circuit model for the coupled-layer system that provides a physical interpretation for the wavelength dependence of electric field mapping between layers, and allows quantitative predictions. Using the circuit model we derive a "rule of thumb" for computing the two growth rates of the coupled system from the isolated Perkins and EsL instability growth rates. We compare the result with the exact computation of [2004].

  6. Sporadic Creutzfeldt-Jakob disease with focal findings: caveats to current diagnostic criteria

    Directory of Open Access Journals (Sweden)

    Edward C. Mader

    2013-02-01

    Full Text Available The clinical diagnosis of Creutzfeldt-Jakob disease (CJD is largely based on the 1998 World Health Organization diagnostic criteria. Unfortunately, rigid compliance with these criteria may result in failure to recognize sporadic CJD (sCJD, especially early in its course when focal findings predominate and traditional red flags are not yet present. A 61-year-old man presented with a 3-week history of epilepsia partialis continua (jerking of the left upper extremity and a 2-week history of forgetfulness and left hemiparesis; left hemisensory neglect was also detected on admission. Repeated brain magnetic resonance imaging (MRI showed areas of restricted diffusion in the cerebral cortex, initially on the right but later spreading to the left. Electroencephalography (EEG on hospital days 7, 10, and 14 showed right-sided periodic lateralized epileptiform discharges. On day 20, the EEG showed periodic sharp wave complexes leading to a diagnosis of probable sCJD and subsequently to definite sCJD with brain biopsy. Neurological decline was relatively fast with generalized myoclonus and akinetic mutism developing within 7 weeks from the onset of illness. CJD was not immediately recognized because of the patient’s focal/lateralized manifestations. Focal/lateralized clinical, EEG, and MRI findings are not uncommon in sCJD and EEG/MRI results may not be diagnostic in the early stages of sCJD. Familiarity with these caveats and with the most current criteria for diagnosing probable sCJD (University of California San Francisco 2007, MRI-CJD Consortium 2009 will enhance the ability to recognize sCJD and implement early safety measures.

  7. 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

  8. Angiotensin-converting enzyme gene polymorphisms and risk for sporadic Alzheimer's disease: a meta-analysis.

    Science.gov (United States)

    Wang, Xue-Bin; Cui, Ning-Hua; Gao, Jia-Jia; Qiu, Xue-Ping; Yang, Na; Zheng, Fang

    2015-02-01

    Numerous studies have tested for associations between common polymorphisms of the angiotensin-converting enzyme gene and sporadic Alzheimer disease (SAD), but results have been inconclusive. Using meta-analysis, our study aimed to clarify the nature of the genetic risks contributed by the three polymorphisms (rs4291, rs4343, rs1800764) for developing SAD. Through searching of Pubmed, Embase, Alzgene and manually searching relevant references, a total of 14 articles with 26 independent studies were included. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of the association studies. The heterogeneity across the studies was tested, as was publication bias. We observed significant association between SNP rs4291 and SAD using allelic comparison (OR = 1.08, 95% CI 1.03-1.14), homozygote comparison (OR = 1.16, 95% CI 1.04-1.30) and the recessive model (OR = 1.10, 95% CI 1.02-1.18). Association with SNP rs1800764 was revealed but it was not sufficiently robust to withstand the Benjamini-Hochberg method and stepdown Bonferroni correction. Significant association was not identified in the analysis for SNP rs4343. In subgroup analyses, the risk of SAD associated with SNP rs4291 appeared to be significant among Caucasians and in older cases (mean age ?75 years). Our results confirmed a significant but modest association between SNP rs4291 and SAD susceptibility. Further study of the pathogenetic characteristics of this polymorphism and independent confirmation of the association in larger studies are warranted. PMID:24851853

  9. Loss of heterozigosity in the short arm of human chromosome 3 in sporadic lung cancer

    Directory of Open Access Journals (Sweden)

    Lina Marcela Barrera

    2010-12-01

    Full Text Available 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.

  10. BP1, an Isoform of DLX4 Homeoprotein, Negatively Regulates BRCA1 in Sporadic Breast Cancer

    Directory of Open Access Journals (Sweden)

    Brian J. Kluk, Yebo Fu, Trina A. Formolo, Lei Zhang, Anne K. Hindle, Yan-gao Man, Robert S. Siegel, Patricia E. Berg, Chuxia Deng, Timothy A. McCaffrey, Sidney W. Fu

    2010-01-01

    Full Text Available Introduction: Several lines of evidence point to an important role for BP1, an isoform of DLX4 homeobox gene, in breast carcinogenesis and progression. BRCA1 is a well-known player in the etiology of breast cancer. While familial breast cancer is often marked by BRCA1 mutation and subsequent loss of heterozygosity, sporadic breast cancers exhibit reduced expression of wild type BRCA1, and loss of BRCA1 expression may result in tumor development and progression.Methods: The Cister algorithm and Genomatix program were used to identify potential BP1 binding sites in BRCA1 gene. Real-time PCR, Western blot and immunohistochemistry analysis were performed to verify the expression of BRCA1 and BP1 in cell lines and breast cancer tissues. Double-stranded siRNA transfection was carried out for silencing BP1 expression. ChIP and EMSA were used to confirm that BP1 specifically binds to BRCA1.Results: A putative BP1 binding site was identified in the first intron of BRCA1, which was confirmed by chromatin immunoprecipiation and electrophoresis mobility shift assay. BP1 and BRCA1 expression were inversely correlated in breast cancer cell lines and tissues, suggesting that BP1 may suppress BRCA1 transcription through consensus sequence binding.Conclusions: BP1 homeoprotein represses BRCA1 expression through direct binding to its first intron, which is consistent with a previous study which identified a novel transcriptional repressor element located more than 500 base pairs into the first intron of BRCA1, suggesting that the first intron plays an important role in the negative regulation of BRCA1. Although further functional studies are necessary to confirm its repressor activity towards BRCA1, the elucidation of the role of BP1 in breast tumorigenesis holds great promise in establishing BP1 as a novel target for drug therapy.

  11. Thymidylate synthase gene (TYMS polymorphisms in sporadic and hereditary breast cancer

    Directory of Open Access Journals (Sweden)

    Junior José da Silva Nogueira

    2012-12-01

    Full Text Available Abstract Background Breast cancer (BC is a genetic disorder characterized by growth and proliferation of breast cells in a disorderly. In Brazil, there are approximately 49.240 new cases of BC, every year. The BC etiology is still poorly understood. The BC can be sporadic (SBC or hereditary (HBC. Recent studies have correlated gene polymorphisms with the BC, such as alterations in thymidylate synthase gene (TYMS, which are used to improve diagnosis and prevention of the disease. Polymorphisms in the TYMS gene 5’-UTR region, usually present reps double (2R and/or triple (3R. Studies have shown that homozygous 3R/3R is overexpressed compared with 2R/2R genotype, and these polymorphic variations may contribute to individual susceptibility to the development of BC. In this context, the objective of this study was to evaluate the frequency of the TYMS 2R and 3R polymorphisms, comparing genotypic and allelic distribution with SBC and HBC patients. Methods In this study we included a total of 204 subjects, 70 with BC (33 with SBC, and 37 with HBC and 134 healthy subjects (controls. The Polymerase Chain Reaction was the method used. Results Results demonstrated a high frequency of the 3R allele at BC, SBC, and HBC groups. The frequency of genotype 2R/3R was significantly higher in BC group. This work showed association between the 2R/3R variants (OR = 4.14, CI95% = 1.77-9.71 in the development of SBC, and 2R/2R (OR = 0.233, CI95% = 1.63-7.65 and 2R/3R (OR = 3.53, CI95% = 0.06-0.81 for developing HBC. To BC, there was association with the genotype 2R/3R (OR: 3.79, CI95% = 2.03-7.08. Conclusion Our results show relation to the development of BC in association with the analyzed polymorphisms.

  12. Population Structure of Listeria monocytogenes Serotype 4b Isolates from Sporadic Human Listeriosis Cases in the United States from 2003 to 2008

    Science.gov (United States)

    Ward, Todd J.; Graves, Lewis M.; Tarr, Cheryl L.; Siletzky, Robin M.; Kathariou, Sophia

    2014-01-01

    Listeria monocytogenes can cause severe food-borne disease (listeriosis). Numerous outbreaks have involved three serotype 4b epidemic clones (ECs): ECI, ECII, and ECIa. However, little is known about the population structure of L. monocytogenes serotype 4b from sporadic listeriosis in the United States, even though most cases of human listeriosis are in fact sporadic. Here we analyzed 136 serotype 4b isolates from sporadic cases in the United States, 2003 to 2008, utilizing multiple tools including multilocus genotyping, pulsed-field gel electrophoresis, and sequence analysis of the inlAB locus. ECI, ECII, and ECIa were frequently encountered (32, 17, and 7%, respectively). However, annually 30 to 68% of isolates were outside these ECs, and several novel clonal groups were identified. An estimated 33 and 17% of the isolates, mostly among the ECs, were resistant to cadmium and arsenic, respectively, but resistance to benzalkonium chloride was uncommon (3%) among the sporadic isolates. The frequency of clonal groups fluctuated within the 6-year study period, without consistent trends. However, on several occasions, temporal clusters of isolates with indistinguishable genotypes were detected, suggesting the possibility of hidden multistate outbreaks. Our analysis suggests a complex population structure of serotype 4b L. monocytogenes from sporadic disease, with important contributions by ECs and several novel clonal groups. Continuous monitoring will be needed to assess long-term trends in clonality patterns and population structure of L. monocytogenes from sporadic listeriosis. PMID:24705322

  13. Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer

    Directory of Open Access Journals (Sweden)

    Facista Alexander

    2012-04-01

    Full Text Available Abstract Background Cancers often arise within an area of cells (e.g. an epithelial patch that is predisposed to the development of cancer, i.e. a "field of cancerization" or "field defect." Sporadic colon cancer is characterized by an elevated mutation rate and genomic instability. If a field defect were deficient in DNA repair, DNA damages would tend to escape repair and give rise to carcinogenic mutations. Purpose To determine whether reduced expression of DNA repair proteins Pms2, Ercc1 and Xpf (pairing partner of Ercc1 are early steps in progression to colon cancer. Results Tissue biopsies were taken during colonoscopies of 77 patients at 4 different risk levels for colon cancer, including 19 patients who had never had colonic neoplasia (who served as controls. In addition, 158 tissue samples were taken from tissues near or within colon cancers removed by resection and 16 tissue samples were taken near tubulovillous adenomas (TVAs removed by resection. 568 triplicate tissue sections (a total of 1,704 tissue sections from these tissue samples were evaluated by immunohistochemistry for 4 DNA repair proteins. Substantially reduced protein expression of Pms2, Ercc1 and Xpf occurred in field defects of up to 10 cm longitudinally distant from colon cancers or TVAs and within colon cancers. Expression of another DNA repair protein, Ku86, was infrequently reduced in these areas. When Pms2, Ercc1 or Xpf were reduced in protein expression, then either one or both of the other two proteins most often had reduced protein expression as well. The mean inner colon circumferences, from 32 resections, of the ascending, transverse and descending/sigmoid areas were measured as 6.6 cm, 5.8 cm and 6.3 cm, respectively. When combined with other measurements in the literature, this indicates the approximate mean number of colonic crypts in humans is 10 million. Conclusions The substantial deficiencies in protein expression of DNA repair proteins Pms2, Ercc1 and Xpf in about 1 million crypts near cancers and TVAs suggests that the tumors arose in field defects that were deficient in DNA repair and that deficiencies in Pms2, Ercc1 and Xpf are early steps, often occurring together, in progression to colon cancer.

  14. Occupational risk factors for the sporadic form of Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Cocco, P L; Caperna, A; Vinci, F

    2003-01-01

    Some case reports among European farmers and a few case-control studies suggested the hypothesis of an increased risk of the sporadic form of CJD (sCJD) associated with livestock farming or work as a butcher. Also, the discovery of the possibility of transmission of the disease via blood or by contact following corneal or dura madre transplant suggested that health occupations might also run higher sCJD risks. However, a meta-analysis of three case-control studies and a multicentre European study did not find any positive association between sCJD and health-related jobs or occupational contact with livestock, such as cattle and sheep, or animal products. To explore possible occupational risk factors for Creutzfeldt-Jakob disease (CJD), we used a publicly available US database including about 6 million deaths in 24 states during 1984-95. Cases were 636 deaths (300 men and 336 women) with CJD (ICD-9 code 046.1) as the underlying cause of death. Controls were 3,180 deaths randomly selected from among those who died from all other diseases except those affecting the central nervous system. CJD cases represented a wide variety of occupations (159) and industries (147). Among occupations and industries, for which previous reports suggested potential exposure to a transmissible spongiform encephalopathy (TSE) agent, the OR for CJD was significantly increased among butchers (OR = 6.8, 95% C.I. 1.5, 30.1, based on 4 cases and 3 controls), and persons working in offices of physicians (OR = 4.6, 95% C.I. 1.2, 17.6 based on 5 cases and 4 controls). Nine other occupations and seven other industries, for which no previous suggestion existed in the literature, also showed significant associations. Overall, our results suggest that occupational exposures are not an important source of sCJD infection. However, as the excess among butchers and some workers in health occupations was consistent with previous reports, more indepth research is warranted to address the hypothesis. PMID:14526494

  15. Observation of strong VHF-radar echoes from the E-region at 69°N and 54°N: Echo properties, relation to sporadic layers, and physical mechanisms

    Science.gov (United States)

    Rapp, Markus; Leitert, Lasse; Latteck, Ralph; Zecha, Marius; Hoffmann, Peter; Höffner, Josef; Hoppe, Ulf-Peter; La Hoz, Cesar

    For more than ten years the Leibniz-Institute of Atmospheric Physics at Rostock University in Kühlungsborn has been operating two VHF-radars (53.5 MHz) at the Arctic location Andenes (69N, 16E) as well as the mid-latitude site Kühlungsborn (54.1N 11.8E). Both radars have primarily been used for the study of strong radar echoes from the summer mesopause region known as (polar) mesosphere summer echoes or (P)MSE. PMSE occur from mid May until mid August in an altitude range from 80 -90 km, i.e., at the time of year and in the altitude range where the atmosphere is supersaturated with respect to ice such that ice particles may form, modify the D-region plasma, and lead to spectacular radar echoes. The existence of echoes from above this altitude range has generally been deemed impossible since refractive index fluctuations arising from neutral dynamics such as turbulence are effectively destroyed at these altitudes owing to the exponential increase of viscosity with height. Also, plasma instabilities which occur between 90 -110 km height produce field aligned irregularities and should not lead to detectable echoes for vertically sounding radars at polar latitudes where the magnetic field lines are essentially perpendicular to the surface. It hence comes as a surprise that our recent observations in the altitude range from 90 -115 km reveals the presence of strong radar echoes both at 69N as well as 54N. These echoes have a typical duration of less than 1 hour and extend over less than 1 km in height. They occur in the entire altitude range from 90 to 115 km with a pronounced maximum at 100 km. The seasonal variation is marked by a pronounced maximum during the summer months. This paper describes the morphology and statistics of these echoes, discusses its relation to sporadic E-layers and sporadic metal layers, and closes with an initial attempt to identify a physical mechanism responsible for these structures.

  16. 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.

  17. Macroautophagy in sporadic and the genetic form of Parkinson's disease with the A53T ?-synuclein mutation

    Directory of Open Access Journals (Sweden)

    Huang Yue

    2012-01-01

    Full Text Available Abstract Background The A53T mutation in the ?-synuclein gene causes autosomal-dominant Lewy body Parkinson's disease (PD. Cultured cell models have linked this mutation to increased cell macroautophagy, although evidence of enhanced macroautophagy in patients with this mutation has not been assessed. Objective To determine whether macroautophagy is increased by the A53T ?-synuclein gene mutation in PD patients and cell models. Methods Formalin-fixed paraffin-embedded 10 ?m-thick tissue sections from the substantia nigra and anterior cingulate cortex of two PD patients with the A53T ?-synuclein gene mutation were compared with four sporadic PD cases and four controls obtained from the Sydney Brain Bank. Lewy bodies were isolated from frontal cortex of a case with late stage PD (recruited from South Australian Brain Bank. Immunohistochemistry was performed for ?-synuclein and the macroautophagy markers autophagy-specific gene (ATG 5, ATG6/Beclin1 and ATG8/LC3. SH-SY5Y cells were transfected with wild type or A53T mutant ?-synuclein plasmids and observable changes in macroautophagy marker protein levels assessed using Western blotting. Results ?-Synuclein immunoreactive neurites and dots were more numerous in patients with A53T mutations compared with late stage sporadic PD patients, and perinuclear cytoplasmic ?-synuclein aggregates were observed in the ?-synuclein A53T gene transfected SH-SY5Y cells compared to wild type transfections. All PD patients (with or without A53T mutations had increased immunohistochemical evidence for macroautophagy compared with controls, and the levels of the ATG5 complex were equally increased in wild type and A53T ?-synuclein gene transfected cells compared to controls. Conclusion Despite increased ?-synuclein accumulation with A53T mutations, macroautophagy is not increased above that observed in sporadic patients with PD or in cells transfected with wild type ?-synuclein, suggesting that mutated ?-synuclein protein is not removed by macroautophagy.

  18. Congratulation to Margaret Chan Familial and Sporadic GJB2-Related Deafness in Iran: Review of Gene Mutations

    Directory of Open Access Journals (Sweden)

    M Hashemzadeh Chaleshtori

    2007-05-01

    Full Text Available Background: Mutations in the GJB2 gene encoding connexin 26 protein, are the main cause for autosomal recessive and sporadic non syndromic hearing loss in many populations. Here, we have taken together and reviewed results from our six previous publications, our unpublished data from ten Iranian provinces, as well as data from two previous mutation reports to provide a comprehensive collection of data for GJB2 mutations and deafness in Iran. Methods: In all, 1095 hearing impaired students and their deaf siblings from 890 families in 10 provinces of Iran were studied. The prevalence and type of the GJB2 gene mutations were investigated using nested PCR pre screening strategy and direct sequencing of the coding exon of the gene. Results: Altogether 31 different genetic variants were detected from which 17 GJB2 mutations were identified. GJB2 mutations were found in 14.6% of deaf families (18.29% of familial and 12.7% of sporadic cases. We found GJB2 mutations in both alleles in 78% of GJB2 mutations chromosomes. However, 35delG mutation was the most common GJB2 mutation accounting for 74.5% of the mutations in populations studied. Conclusion: Our data indicated that a specific combination of GJB2 mutations types and frequencies was presented in different populations of Iran. These results also highlight the importance of GJB2 mutations in development of hearing loss in familial and sporadic deaf families in different parts of the country and can be used as a basis of genetic counseling and clinical guideline in Iran.

  19. Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma

    OpenAIRE

    Feilotter, H E; Coulon, V; McVeigh, J L; Boag, A. H.; Dorion-Bonnet, F; Duboué, B; Latham1, W C W; Eng, C.; Mulligan, L.M.; LONGY, M.

    1999-01-01

    We examined a panel of sporadic breast carcinomas for loss of heterozygosity (LOH) in a 10-cM interval on chromosome 10 known to encompass the PTEN gene. We detected allele loss in 27 of 70 breast tumour DNAs. Fifteen of these showed loss limited to a subregion of the area studied. The most commonly deleted region was flanked by D10S215 and D10S541 and encompasses the PTEN locus. We used a combination of denaturing gradient gel electrophoresis and single-strand conformation polymorphism anal...

  20. Sporadic and familial pheochromocytomas are associated with loss of at least two discrete intervals on chromosome 1p.

    Science.gov (United States)

    Benn, D E; Dwight, T; Richardson, A L; Delbridge, L; Bambach, C P; Stowasser, M; Gordon, R D; Marsh, D J; Robinson, B G

    2000-12-15

    Pheochromocytomas are tumors of the adrenal medulla originating in the chromaffin cells derived from the neural crest. Ten % of these tumors are associated with the familial cancer syndromes multiple endocrine neoplasia type 2, von Hippel-Lindau disease (VHL), and rarely, neurofibromatosis type 1, in which germ-line mutations have been identified in RET, VHL, and NF1, respectively. In both the sporadic and familial form of pheochromocytoma, allelic loss at 1p, 3p, 17p, and 22q has been reported, yet the molecular pathogenesis of these tumors is largely unknown. Allelic loss at chromosome 1p has also been reported in other endocrine tumors, such as medullary thyroid cancer and tumors of the parathyroid gland, as well as in tumors of neural crest origin including neuroblastoma and malignant melanoma. In this study, we performed fine structure mapping of deletions at chromosome 1p in familial and sporadic pheochromocytomas to identify discrete regions likely housing tumor suppressor genes involved in the development of these tumors. Ten microsatellite markers spanning a region of approximately 70 cM (1pter to 1p34.3) were used to screen 20 pheochromocytomas from 19 unrelated patients for loss of heterozygosity (LOH). LOH was detected at five or more loci in 8 of 13 (61%) sporadic samples and at five or more loci in four of five (80%) tumor samples from patients with multiple endocrine neoplasia type 2. No LOH at 1p was detected in pheochromocytomas from two VHL patients. Analysis of the combined sporadic and familial tumor data suggested three possible regions of common somatic loss, designated as PC1 (D1S243 to D1S244), PC2 (D1S228 to D1S507), and PC3 (D1S507 toward the centromere). We propose that chromosome 1p may be the site of at least three putative tumor suppressor loci involved in the tumorigenesis of pheochromocytomas. At least one of these loci, PC2 spanning an interval of <3.8 cM, is likely to have a broader role in the development of endocrine malignancies. PMID:11156410

  1. NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

    OpenAIRE

    Riva, Paola; Corrado, Lucia; Natacci, Federica; Castorina, Pierangela; Wu, Bai-Li; Schneider, Gretchen H.; Clementi, Maurizio; Tenconi, Romano; Korf, Bruce R; Larizza, Lidia

    1999-01-01

    Two familial and seven sporadic patients with neurofibromatosis 1—who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene—were investigated by use of a two-step FISH approach to characterize the deletions. With FISH of YAC clones belonging to a 7-Mb 17q11.2 contig, we estimated the extension of all of the deletions and identified the genomic regions harboring the breakpoints. Mosaicism accounted for the mild phenotype in...

  2. Impact of the clinical context on the 14-3-3 test for the diagnosis of sporadic CJD

    OpenAIRE

    Sierra-Moros Maríajosé; Cerrato Laura; Vega Luz; Hortigüela Rafael; Albo Carmen; Jiménez-Huete Adolfo; Cuadrado-Corrales Natividad; Rábano Alberto; de Pedro-Cuesta Jesús; Calero Miguel

    2006-01-01

    Abstract Background The 14-3-3 test appears to be a valuable aid for the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) in selected populations. However, its usefulness in routine practice has been challenged. In this study, the influence of the clinical context on the performance of the 14-3-3 test for the diagnosis of sCJD is investigated through the analysis of a large prospective clinical series. Methods Six hundred seventy-two Spanish patients with clinically suspected s...

  3. 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 ...

  4. Transcription of Alu DNA elements in blood cells of sporadic Creutzfeldt-Jakob disease (sCJD)

    OpenAIRE

    Kiesel, Petra; Gibson, Toby J.; Ciesielczyk, Barbara; Bodemer, Monika; Kaup, Franz-josef; Bodemer, Walter; Zischler, Hans; Zerr, Inga

    2010-01-01

    Alu DNA elements were long considered to be of no biological significance and thus have been only poorly defined. However, in the past Alu DNA elements with well-defined nucleotide sequences have been suspected to contribute to disease, but the role of Alu DNA element transcripts has rarely been investigated. For the first time, we determined in a real-time approach Alu DNA element transcription in buffy coat cells isolated from the blood of humans suffering from sporadic Creutzfeldt-Jakob di...

  5. Epidemiologic analysis of sporadic Salmonella typhi isolates and those from outbreaks by pulsed-field gel electrophoresis.

    OpenAIRE

    Thong, K. L.; Cheong, Y. M.; Puthucheary, S.; Koh, C. L.; Pang, T.

    1994-01-01

    Pulsed-field gel electrophoresis (PFGE) was used to compare and analyze 158 isolates of Salmonella typhi from five well-defined outbreaks of typhoid fever in Malaysia and also isolates involved in sporadic cases of typhoid fever occurring during the same period. Digestion of chromosomal DNAs from these S. typhi isolates with the restriction endonucleases XbaI (5'-TCTAGA-3'), SpeI (5'-ACTAGT-3'), and AvrII (5'-CCTAGG-3') and then PFGE produced restriction endonuclease analysis (REA) patterns c...

  6. Association between mismatch repair gene MSH3 codons 1036 and 222 polymorphisms and sporadic prostate cancer in the Iranian population.

    Science.gov (United States)

    Jafary, Fariba; Salehi, Mansoor; Sedghi, Maryam; Nouri, Nayereh; Jafary, Farzaneh; Sadeghi, Farzaneh; Motamedi, Shima; Talebi, Maede

    2012-01-01

    The mismatch repair system (MMR) is a post-replicative DNA repair mechanism whose defects can lead to cancer. The MSH3 protein is an essential component of the system. We postulated that MSH3 gene polymorphisms might therefore be associated with prostate cancer (PC). We studied MSH3 codon 222 and MSH3 codon 1036 polymorphisms in a group of Iranian sporadic PC patients. A total of 60 controls and 18 patients were assessed using the polymerase chain reaction and single strand conformational polymorphism. For comparing the genotype frequencies of patients and controls the chi-square test was applied. The obtained result indicated that there was significantly association between G/A genotype of MSH3 codon 222 and G/G genotype of MSH3 codon 1036 with an increased PC risk (P=0.012 and P=0.02 respectively). Our results demonstrated that MSH3 codon 222 and MSH3 codon 1036 polymorphisms may be risk factors for sporadic prostate cancer in the Iranian population. PMID:23464402

  7. Wnt pathway, angiogenetic and hormonal markers in sporadic and familial adenomatous polyposis-associated juvenile nasopharyngeal angiofibromas (JNA).

    Science.gov (United States)

    Ponti, Giovanni; Losi, Lorena; Pellacani, Giovanni; Rossi, Giovanni Battista; Presutti, Livio; Mattioli, Francesco; Villari, Domenico; Wannesson, Luciano; Alicandri Ciufelli, Matteo; Izzo, Paola; De Rosa, Marina; Marone, Pietro; Seidenari, Stefania

    2008-03-01

    Juvenile nasopharyngeal angiofibroma (JNA) is a rare, invasive, and locally destructive tumor of the nasopharynx. The Wnt pathway, angiogenetic and hormonal factors are involved in the pathophysiology of JNA; it can result in an extracolonic manifestation of familial adenomatous polyposis (FAP) or in a sporadic tumor. All patients who underwent resection of JNA between 1991 and 2006 at the University of Modena and Reggio Emilia were studied to identify immunohistochemical markers of associated FAP syndrome. Paraffin-embedded JNA samples were analyzed immunohistochemically for the expression of adenomatous polyposis coli (APC), beta-catenin, E-cadherin, androgen receptor, and vascular endothelial growth factors receptor (VEGFR2). In one out of the 4 (25%) young patients affected by JNA the diagnosis of FAP syndrome linked to APC mutation was made. All of the sporadic and familial JNA tumors showed nuclear staining of beta-catenin, whereas altered APC expression was seen only in FAP-associated JNA. All cases were stained with VEGFR2. A combined clinical, immunohistochemical, and biomolecular screening may be useful for the identification of FAP among patients with a diagnosis of JNA. The Wnt pathway can be involved in the JNA pathogenesis either by somatic mutations of beta-catenin or by germline APC mutations. As the VEGFR has an important impact on the pathogenesis of JNA, we suggest that a targeted therapy with monoclonal antibodies against VEGFR might lead to a specific chemoprevention and treatment of these tumors and their recurrences. PMID:18227724

  8. Geomagnetic storm characteristics in 24-th 11-year cycle and coronal mass ejections as tracer of sporadic solar activity

    Science.gov (United States)

    Valchuk, Tatiana

    Geomagnetic storms (GMS) in 2010-2013 were analyzed on the material of magnetic observatory "Moscow". According to the traditional description of magnetic storms were constructed two sets of events: the first set - small GMS, the second set - moderate and severe magnetic storms. In connection with main features of solar activity (SA), 4 main types of geomagnetic storm disturbances were allocated: (1) - the magnetosphere disturbance from solar wind of coronal holes (CH) (corotating interaction regions (CIR), high speed streams); (2) - the flare with added another sporadic phenomena (coronal mass ejections (CME) and filaments); (3) - only filaments and CME, as individual SA sporadic phenomena, without solar flare; (4) - total influence of CH, filament or CME, as composite type without solar flare. As basic material served magnetograms of geomagnetic observatory "Moscow", the information about solar wind stream quality was taken from cosmic missions (as SDO, SOHO, Wind, ACE and many another SW and SA data sites). 122 magnetic storms were extracted and analyzed as characteristics of 24-th cycle running. Treatment of the received results was very informative. It is possible to note that recurrent high speed streams of SW were rather weak and didn't generate strong magnetic storms in magnetosphere. This noticeable difference from the previous SA cycles. The growth of CME and filaments geoefficiency is the most interesting feature of 24-th solar cycle.

  9. 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.

  10. 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.

  11. 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

    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 identifying the most important risk factors for salmonellosis, we performed a systematic review of case-control studies and a meta-analysis of obtained results. Thirty-five Salmonella case-control studies were identified. In the meta-analysis, heterogeneity between studies and possible sources of bias were investigated, and pooled odds ratios estimated. Results suggested that travel, predisposing factors, eating raw eggs, and eating in restaurants were the most important risk factors for salmonellosis. Sub-analyses by serotype were performed when enough studies were available.

  12. Retrospective analysis of sporadic and recurrent geomagnetic storms documented in 1859-1860 by the Russian network of observatories

    International Nuclear Information System (INIS)

    Complete text of publication follows. Based on an analysis of the available archived data from the Russian network of geomagnetic stations, we demonstrate that the famous Carrington event observed on the Sun in 1859 was responsible for the first and the greatest geomagnetic perturbation in the series of the recurrent geomagnetic storms, which reappeared later during several solar rotations in 1859-1860. Similar series were repeatedly observed in the subsequent years. These series are caused by the processes on the Sun and in the heliosphere related to the superposition of sporadic and corotating solar wind flows. Corresponding interplanetary magnetic fields can be retrospectively invoked from geomagnetic archives. Neither coronal holes nor active regions can separately explain observations. Active regions and coronal holes should be considered as unified complex for a proper explanation of the Bartels's M regions.

  13. 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.

  14. Epigenetic analysis of sporadic and Lynch-associated ovarian cancers reveals histology-specific patterns of DNA methylation.

    Science.gov (United States)

    Niskakoski, Anni; Kaur, Sippy; Staff, Synnöve; Renkonen-Sinisalo, Laura; Lassus, Heini; Järvinen, Heikki J; Mecklin, Jukka-Pekka; Bützow, Ralf; Peltomäki, Päivi

    2014-12-01

    Diagnosis and treatment of epithelial ovarian cancer is challenging due to the poor understanding of the pathogenesis of the disease. Our aim was to investigate epigenetic mechanisms in ovarian tumorigenesis and, especially, whether tumors with different histological subtypes or hereditary background (Lynch syndrome) exhibit differential susceptibility to epigenetic inactivation of growth regulatory genes. Gene candidates for epigenetic regulation were identified from the literature and by expression profiling of ovarian and endometrial cancer cell lines treated with demethylating agents. Thirteen genes were chosen for methylation-specific multiplex ligation-dependent probe amplification assays on 104 (85 sporadic and 19 Lynch syndrome-associated) ovarian carcinomas. Increased methylation (i.e., hypermethylation) of variable degree was characteristic of ovarian carcinomas relative to the corresponding normal tissues, and hypermethylation was consistently more prominent in non-serous than serous tumors for individual genes and gene sets investigated. Lynch syndrome-associated clear cell carcinomas showed the highest frequencies of hypermethylation. Among endometrioid ovarian carcinomas, lower levels of promoter methylation of RSK4, SPARC, and HOXA9 were significantly associated with higher tumor grade; thus, the methylation patterns showed a shift to the direction of high-grade serous tumors. In conclusion, we provide evidence of a frequent epigenetic inactivation of RSK4, SPARC, PROM1, HOXA10, HOXA9, WT1-AS, SFRP2, SFRP5, OPCML, and MIR34B in the development of non-serous ovarian carcinomas of Lynch and sporadic origin, as compared to serous tumors. Our findings shed light on the role of epigenetic mechanisms in ovarian tumorigenesis and identify potential targets for translational applications. PMID:25625843

  15. 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: 5.215, year: 2013

  16. Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area.

    Science.gov (United States)

    Betti, Marta; Casalone, Elisabetta; Ferrante, Daniela; Romanelli, Antonio; Grosso, Federica; Guarrera, Simonetta; Righi, Luisella; Vatrano, Simona; Pelosi, Giuseppe; Libener, Roberta; Mirabelli, Dario; Boldorini, Renzo; Casadio, Caterina; Papotti, Mauro; Matullo, Giuseppe; Magnani, Corrado; Dianzani, Irma

    2015-01-01

    Inherited loss-of-function mutations in the BAP1 oncosuppressor gene are responsible for an inherited syndrome with predisposition to malignant mesothelioma (MM), uveal and keratinocytic melanoma, and other malignancies. Germline mutations that were inherited in an autosomal dominant fashion were identified in nine families with multiplex MM cases and 25 families with multiple melanoma, renal cell carcinoma, and other tumors. Germline mutations were also identified in sporadic MM cases, suggesting that germline mutations in BAP1 occur frequently. In this article, we report the analysis of BAP1 in five multiplex MM families and in 103 sporadic cases of MM. One family carried a new truncating germline mutation. Using immunohistochemistry, we show that BAP1 is not expressed in tumor tissue, which is in accordance with Knudson's two hits hypothesis. Interestingly, whereas the three individuals who were possibly exposed to asbestos developed MM, the individual who was not exposed developed a different tumor type, that is, mucoepidermoid carcinoma. This finding suggests that the type of carcinogen exposure may be important for the cancer type that is developed by mutation carriers. On the contrary, the other families or the 103 sporadic patients did not show germline mutations in BAP1. Our data show that BAP1 mutations are very rare in patients with sporadic MM, and we report a new BAP1 mutation, extend the cancer types associated with these mutations, and suggest the existence of other yet unknown genes in the pathogenesis of familial MM. PMID:25231345

  17. BRCA1 protein expression and its correlation with ER/PR status in sporadic and familial breast cancer in Eastern Indian patients--a hospital based study.

    Science.gov (United States)

    Ashraf, M; Jha, J K; Mukherjee, N; Panda, C K; Nayak, S; Jadhav, T S; Dikshit, N; Nath, N C; Chakraborty, J; Biswas, J

    2011-12-01

    BRCA1 gene expression in familial breast cancer is mainly focused on mutational analysis. However in sporadic cancers BRCA1 protein expression is the main area of interest because somatic inactivation of one allele of the gene is likely to occur during the oestrogen mediated proliferation at puberty and subsequent tumourigenic events take place in the same cell. Standard immunohistochemical analysis was used to assess BRCA1 and oestrogen/progesterone receptor (ER/PR) status in familial and sporadic breast cancer patients and correlation of BRCA1 protein expression with histopathological features ER/PR status was studied in these tumours. One hundred and seventy-seven sporadic tumours (group A) and 28 familial tumours (patients with history of breast cancer in first or second degree relative ie, group B) were studied. In group A, 61 tumours had absent/reduced BRCA 1 protein expression; 30 (49%) out of these were negative for ER/PR receptors. In group B, 18 patients had absent/reduced BRCA1 protein expression, and 10 (55.6%) out of these, were ER/PR negative. Overall in 2 groups, 82 tumours were of grade 1, 61 tumours of grade 2 and 62 tumours were of grade 3 differentiation. Test of proportion showed that percentage of ER/PR negativity is significantly higher than ER/PR positivity in sporadic as well as in familial tumours with absent/ reduced BRCA 1 protein expression (p < 0.05). Sporadic tumours with deranged BRCA1 protein expression like familial tumours have more unfavourable histopathological characteristics and are likely to be of higher grade and oestrogen receptor negative PMID:23469566

  18. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  20. 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.

  1. High resolution observations of sporadic-E layers within the polar cap ionosphere using a new incoherent scatter radar experiment

    Directory of Open Access Journals (Sweden)

    B. Damtie

    Full Text Available High resolution observations of sporadic-E layers using a new experiment with the EISCAT (European Incoherent SCATter Svalbard radar (ESR are presented. The observations were made by means of a new type of hardware, which was connected in parallel with the standard receiver. The radar beam was aligned with the geomagnetic field. The experiment applies a new modulation principle. Two phase codes, one with 22 bits and the other with 5 bits, were transmitted at separate frequencies. Each bit was further modulated by a 5-bit Barker code. The basic bit length of both transmissions was 6 µs. Instead of storing the lagged products of the ionospheric echoes in the traditional way, samples of both the transmitted pulses and the ionospheric echoes were taken at intervals of 1 µs and stored on hard disk. The lagged products were calculated later in an off-line analysis. In the analysis a sidelobe-free Barker decoding technique was used. The experiment produces range ambiguities, which were removed by mathematical inversion. Sporadic-E layers were observed at 105–115 km altitudes, and they are displayed with a 150-m range resolution and a 10-s time resolution. The layers show sometimes complex shapes, including triple peaked structures. The thickness of these sublayers is of the order of 1–2 km and they may be separated by 5 km in range. While drifting downwards, the sublayers merge together to form a single layer. The plasma inside a layer is found to have a longer correlation length than that of the surrounding plasma. This may be an indication of heavy ions inside the layer. The field-aligned ion velocity is also calculated. It reveals shears in the meridional wind, which suggests that shears probably also exist in the zonal wind. Hence the wind shear mechanism is a possible generation mechanism of the layer. However, observations from the coherent SuperDARN radar indicate the presence of an ionospheric electric field pointing in the sector between west and north. Thus, the layer could also be produced by the electric field mechanism. This means that both mechanisms may be active simultaneously. Their relative importance could not be determined in this study.

    Key words. Ionosphere; polar ionosphere, instruments and techniques

  2. 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...

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

    Directory of Open Access Journals (Sweden)

    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

  4. No evidence of association between polymorphisms in four genes and sporadic amyotrophic lateral sclerosis in Han Chinese.

    Science.gov (United States)

    An, Ran; Xi, Jing; Yang, Xinglong; Yao, Xiaoli; Xu, Yanming

    2015-06-01

    The four single nucleotide polymorphisms (SNPs) rs34517613, rs3849943, rs8141797 and rs6703183, each located in a different gene, have recently been associated with risk of developing sporadic amyotrophic lateral sclerosis (SALS) in European and northern Chinese populations, but no data are yet available for other ethnic groups. Here we explored the possible association between these four SNPs and SALS in Han Chinese primarily from southern and south-western China. A total of 298 individuals with SALS from three centres in mainland China and 486 unrelated healthy controls were recruited. All subjects were successfully genotyped using the ligase detection reaction (LDR). We found no evidence that any of these SNPs are associated with risk of disease in either heterozygous or homozygous individuals (p > 0.05). Subgroup analysis based on gender showed a similar lack of association. However, subgroup analysis based on spinal- or bulbar-onset SALS revealed significant differences in the genotype distributions (p = 0.009) and minor allele frequencies of rs6703183 (p = 0.004). In conclusion, it may be premature to conclude associations between these four SNPs and SALS, which should be examined in additional ethnic groups. PMID:25677198

  5. Association of urothelial carcinoma of the renal pelvis with papillary and medullary thyroid carcinomas. A new sporadic neoplastic syndrome?

    Science.gov (United States)

    Albores-Saavedra, Jorge; Dorantes-Heredia, Rita; Chablé-Montero, Fredy; Córdova-Ramón, Juan Carlos; Henson, Donald E

    2014-10-01

    We describe 2 adult women (72 and 54 years), 1 with a low-grade noninvasive papillary urothelial carcinoma of the renal pelvis, who 14 years later developed a papillary carcinoma in 1 thyroid lobe and a medullary carcinoma in the contralateral lobe. Both neoplasms were similar in size and appeared symmetrical. Despite its small size, the medullary carcinoma metastasized in multiple cervical lymph nodes. The second patient had a high-grade invasive papillary urothelial carcinoma of the renal pelvis that infiltrated the renal parenchyma and metastasized in one of the lungs. Five months later, a papillary carcinoma was discovered in the thyroid gland. The 2 papillary thyroid carcinomas were of the follicular variant. Adjacent to 1 papillary carcinoma, there was a dominant nodule of a colloid and adenomatous goiter. The medullary carcinoma contained stromal amyloid and was immunoreactive for calcitonin and carcinoembryonic antigen. There was no C-cell hyperplasia (medullary carcinoma in situ). The 2 patients are alive, 1 is living with pulmonary metastasis from the high-grade urothelial carcinoma. Twelve cases of this neoplastic association were registered in the Survey, Epidemiology, and End Results Program from 1980 to 2009. We believe that the combination of these unusual neoplasms in the same patient may represent a new sporadic neoplastic syndrome. PMID:25175810

  6. Autosomal Recessive and Sporadic Non Syndromic Hearing Loss and the Incidence of Cx26 Mutations in a Province of Iran

    Directory of Open Access Journals (Sweden)

    M Hashemzadeh Chaleshtori

    2006-05-01

    Full Text Available Despite the enormous heterogeneity of genetic hearing loss, mutations in the GJB2 (connexin 26 gene located on “DFNB1” locus (13q12 account for up to 50% of cases of autosomal recessive non-syndromic hearing loss (ARNSHL in some populations. This study describes the analysis of 100 autosomal recessive and sporadic nonsyndromic hearing loss individuals from 79 families each having at least one deaf child in Chehar Mahal va Bakhtiari province in west of Iran. We have investigated the prevalence of the connexin 26 gene mutations using nested PCR strategy to screen the predominant 35delG mutation and subsequent direct sequencing to detect other Cx26 mutations. Seven different genetic variants were detected from which one novel variant was including 363delC. The 35delG was the most common mutation found in 5 of 79 families (6.3%. Cx26 related deafness mutations (35delG, [V27I; E114G] and R127H were found in 12 of 158 chromosomes studied (7.8%. We conclude that the association of Cx26 mutations with deafness in Chehar Mahal va Bakhtiari province is low and looks like most other populations of Iran.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.

    OpenAIRE

    Heidet, L.; Boye, E.; Cai, Y.; Sado, Y.; Zhang, X.; Fle?jou, J. F.; Fe?ke?te?, F.; Ninomiya, Y.; Gubler, M. C.; Antignac, C.

    1998-01-01

    Leiomyomata of the esophagus are sporadic benign tumors of unknown etiology. We studied a collection of nine tumors for the expression of extracellular matrix components and found the same aberrant expression pattern as previously observed in inherited diffuse leiomyomatosis. We demonstrate here the occurrence of a somatic deletion at the COL4A5/COL4A6 locus at Xq22 in a frozen leiomyoma sample. These data confirm the hypothesis that the same underlying etiology is responsible for circumscrib...

  9. I-123 -FP-CIT and Tc-99m -HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism

    International Nuclear Information System (INIS)

    Rapid-onset dystonia-parkinsonism (RDP) is a rare, autosomal-dominantly inherited syndrome characterized by abrupt onset, over hours to days, of dystonic and parkinsonian symptoms. To date, RDP has been described in a small number of families, and in only four sporadic cases. Methods: We here report a new sporadic case of RDP who has a novel de novo mutation in the ATP1A3 gene. Striatal dopamine transporters have been assessed quantitatively using [123I]-FP-CIT SPECT. A volume of interest (VOI) was drawn within the occipital cortex to obtain non-specific activity and specific to nonspecific binding ratios (BR) were calculated. A single template of predefined VOI 3D-drawn on right and left caudate nucleus and putamen was applied to the spatially normalized BR images. BR values were compared to those obtained from an age-matched control group and from a group of patients suffering from Parkinson's disease (Hoehn and Yahr score 2 or 3). A [99mTc]-HMPAO cerebral blood flow study was also performed. Results: In the control group, BR values (mean Standard Deviation) were 3.5 ± 0.4 for the left striatum and 3.3 ± 0.3 for the right one. RDP patient's values were 3 and 2.7, respectively. In the Parkinson group, values were 1.6 ± 0.3 and 1.7 ± 0.4, respectively. [99mTc]-HMPAO scan showed homogeneous cortical and sub-cortical perfusion. Conclusion: Quantification of striatal [123I]-FP-CIT uptake in a new Sporadic case of RDP with ae in a new Sporadic case of RDP with a novel mutation in the ATP1A3 gene showed values just within the range of normality. [99mTc]-HMPAO scan was normal. (authors)

  10. 2012 European Thyroid Association Guidelines for the Management of Familial and Persistent Sporadic Non-Autoimmune Hyperthyroidism Caused by Thyroid-Stimulating Hormone Receptor Germline Mutations

    OpenAIRE

    Paschke, R.; Niedziela, M.; Vaidya, B.; Persani, L.; Rapoport, B.; Leclere, J.

    2012-01-01

    All cases of familial thyrotoxicosis with absence of evidence of autoimmunity and all children with persistent isolated neonatal hyperthyroidism should be evaluated for familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) or persistent sporadic non-autoimmune hyperthyroidism (PSNAH). First, all index patients should be analysed for the presence/absence of a thyroid-stimulating hormone (TSH) receptor (TSHR) germline mutation, and if they display a TSHR germline mutation, all other...

  11. 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.

  12. 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 (pmonocytogenes in the food environment. PMID:25974395

  13. Modeling sporadic alzheimer's disease: the insulin resistant brain state generates multiple long-term morphobiological abnormalities inclusive hyperphosphorylated tau protein and amyloid-beta. A Synthesis

    OpenAIRE

    Salkovic-Petrisic, M; Osmanovic, J; E Grünblatt; Riederer, P; Hoyer, S

    2009-01-01

    Nosologically, Alzheimer's disease (AD) is not a single disorder. Missense gene mutations involved in increased formation of the amyloid-beta protein precursor derivatives amyloid-beta (Abeta)_{1-40} and Abeta_{1-42/43} lead to autosomal dominant familial AD, found in the minority of AD cases. However, millions of subjects suffer from sporadic AD (sAD) of late onset, for which no convincing evidence suggests Abeta as the primary disease-generating compound. Environmental factors operating dur...

  14. Expression Profiling of Hereditary versus Sporadic Prostate Cancer Suggests CYR61, EGR3, KLF6 and SNF1LK as Differentially Expressed Genes

    OpenAIRE

    Lars Dyrskjøt; Torben Ørntoft; Martin Mørck Mortensen; Diem Nguyen Bentzon; Michael Borre

    2012-01-01

    Background: Distinguishing between sub-clinical and aggressive forms of prostate cancer is difficult due to the heterogeneity of the disease. It is, however, important to identify aggressive forms to guide proper treatment. This study compared gene expression profiles in cancer cells from hereditary and sporadic prostate cancer cases and attempted to correlate differentially regulated genes with clinico-pathological characteristics and prognosis. Materials and methods: The study population co...

  15. Is sporadic MS caused by an infection of adolescence and early adulthood? A case-control study of birth order position.

    OpenAIRE

    Gaudet, JP; HASHIMOTO, L; Sadovnick, AD; Ebers, GC

    1995-01-01

    Birth order position was examined in 164 cases with sporadic multiple sclerosis (MS), i.e. no other family members with MS, and spousal controls, matched for sibship size, socioeconomic status and opposite sex. The results did not find an association between birth order position and the subsequent development of MS and thus do not support the concept of an infectious cause for MS where "early exposure" is protective and exposure to the infection is a single event of short duration.

  16. CDX2 mutations do not account for juvenile polyposis or Peutz–Jeghers syndrome and occur infrequently in sporadic colorectal cancers

    Science.gov (United States)

    Woodford-Richens, K L; Halford, S; Rowan, A; Bevan, S; Aaltonen, L A; Wasan, H; Bicknell, D; Bodmer, W F; Houlston, R S; Tomlinson, I P M

    2001-01-01

    Peutz–Jeghers syndrome (PJS) and juvenile polyposis (JPS) are both characterized by the presence of hamartomatous polyps and increased risk of malignancy in the gastrointestinal tract. Mutations of the LKB1 and SMAD4 genes have been shown recently to cause a number of PJS and JPS cases respectively, but there remains considerable uncharacterized genetic heterogeneity in these syndromes, particularly JPS. The mouse homologue of CDX2 has been shown to give rise to a phenotype which includes hamartomatous-like polyps in the colon and is therefore a good candidate for JPS and PJS cases which are not accounted for by the SMAD4 and LKB1 genes. By analogy with SMAD4CDX2 is also a candidate for somatic mutation in sporadic colorectal cancer. We have screened 37 JPS families/cases without known SMAD4 mutations, 10 Peutz-Jeghers cases without known LKB1 mutations and 49 sporadic colorectal cancers for mutations in CDX2. Although polymorphic variants and rare variants of unlikely significance were detected, no pathogenic CDX2 mutations were found in any case of JPS or PJS, or in any of the sporadic cancers. © 2001 Cancer Research Campaign www.bjcancer.com PMID:11355940

  17. Subchronic infusion of the product of inflammation prostaglandin J2 models sporadic Parkinson's disease in mice

    Directory of Open Access Journals (Sweden)

    Figueiredo-Pereira Maria E

    2009-07-01

    Full Text Available Abstract Background Chronic neuroinflammation is implicated in Parkinson's disease (PD. Inflammation involves the activation of microglia and astrocytes that release high levels of prostaglandins. There is a profound gap in our understanding of how cyclooxygenases and their prostaglandin products redirect cellular events to promote PD neurodegeneration. The major prostaglandin in the mammalian brain is prostaglandin D2, which readily undergoes spontaneous dehydration to generate the bioactive cyclopentenone prostaglandins of the J2 series. These J2 prostaglandins are highly reactive and neurotoxic products of inflammation shown in cellular models to impair the ubiquitin/proteasome pathway and cause the accumulation of ubiquitinated proteins. PD is a disorder that exhibits accumulation of ubiquitinated proteins in neuronal inclusions (Lewy bodies. The role of J2 prostaglandins in promoting PD neurodegeneration has not been investigated under in vivo conditions. Methods We addressed the neurodegenerative and behavioral effects of the administration of prostaglandin J2 (PGJ2 simultaneously into the substantia nigra/striatum of adult male FVB mice by subchronic microinjections. One group received unilateral injections of DMSO (vehicle, n = 6 and three groups received PGJ2 [3.4 ?g or 6.7 ?g (n = 6 per group or 16.7 ?g (n = 5] per injection. Immunohistochemical and behavioral analyses were applied to assess the effects of the subchronic PGJ2 microinfusions. Results Immunohistochemical analysis demonstrated a PGJ2 dose-dependent significant and selective loss of dopaminergic neurons in the substantia nigra while the GABAergic neurons were spared. PGJ2 also triggered formation of aggregates immunoreactive for ubiquitin and ?-synuclein in the spared dopaminergic neurons. Moreover, PGJ2 infusion caused a massive microglia and astrocyte activation that could initiate a deleterious cascade leading to self-sustained progressive neurodegeneration. The PGJ2-treated mice also exhibited locomotor and posture impairment. Conclusion Our studies establish the first model of inflammation in which administration of an endogenous highly reactive product of inflammation, PGJ2, recapitulates key aspects of PD. Our novel PGJ2-induced PD model strongly supports the view that localized and chronic production of highly reactive and neurotoxic prostaglandins, such as PGJ2, in the CNS could be an integral component of inflammation triggered by insults evoked by physical, chemical or microbial stimuli and thus establishes a link between neuroinflammation and PD neurodegeneration.

  18. 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.

  19. 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.

  20. 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

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

    Directory of Open Access Journals (Sweden)

    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

  3. Characterization of Recurrent and Sporadic Listeria monocytogenes Isolates from Raw Milk and Nondairy Foods by Pulsed-Field Gel Electrophoresis, Monocin Typing, Plasmid Profiling, and Cadmium and Antibiotic Resistance Determination

    OpenAIRE

    Harvey, J.; Gilmour, A.

    2001-01-01

    Following previous surveys to assess the incidence of Listeria monocytogenes in raw milk and nondairy foods processed in Northern Ireland, isolates were characterized as recurrent or sporadic on the basis of multilocus enzyme electrophoresis (MEE) analysis and restriction fragment length polymorphism typing. In the present study, 45 representative recurrent and sporadic electrophoretic types (ETs) previously identified by MEE were subjected to pulsed-field gel electrophoresis (PFGE) of genomi...

  4. Sporadic meningioangiomatosis-associated atypical meningioma mimicking parenchymal invasion of brain: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    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.

  5. Seasonality of sporadic physical processes driving temperature and nutrient high-frequency variability in the coastal ocean off southeast Australia

    Science.gov (United States)

    Rossi, Vincent; Schaeffer, Amandine; Wood, Julie; Galibert, Guillaume; Morris, Brad; Sudre, Joel; Roughan, Moninya; Waite, Anya M.

    2014-01-01

    Physical processes forced by alongshore winds and currents are known to strongly influence the biogeochemistry of coastal waters. Combining in situ observations (moored platforms, hydrographic surveys) and satellite data (sea surface wind and sea surface height), we investigate the transient occurrence of wind-driven upwelling/downwelling and current-driven upwelling events off southeast Australia. Remote-sensed indices are developed and calibrated with multiannual time series of in situ temperature and current measurements at two shelf locations. Based on archives up to 10 years long, climatological analyses of these indices reveal various latitudinal regimes with respect to seasonality, magnitude, duration of events, and their driving mechanisms (wind or current). Generally, downwelling-favorable winds prevail in this region; however, we demonstrate that up to 10 wind-driven upwelling days per month occur during spring/summer at 28-33.5°S and up to 5 days in summer further south. Current-driven upwelling upstream of the East Australian Current separation zone (˜32°S) occurs twice as often as downstream. Using independent in situ data sets, we show that the response of the coastal ocean is consistent with our climatology of shelf processes: upwelling leads to a large range of temperatures and elevated nutrient concentrations on the shelf, maximized in the wind-driven case, while downwelling results in destratified nutrient-poor waters. The combination of these sporadic wind- and current-driven processes may drive an important part of the high-frequency variability of coastal temperature and nutrient content. Our results suggest that localized nutrient enrichment events of variable magnitude are favored at specific latitudes and seasons, potentially impacting coastal ecosystems.

  6. [TENpath network, an expertise pathology network dedicated to sporadic and inherited adult neuroendocrine tumors: first evaluation and first lessons].

    Science.gov (United States)

    Scoazec, Jean-Yves

    2014-02-01

    TENpath is a network for the expert pathological diagnosis of malignant neuroendocrine tumors of the adult, both familial and sporadic, created by the French National Institute of Cancer in 2010. After 3years of activity, a first evaluation can be made. The perimeter of the network includes all neuroendocrine tumors (except small cell carcinomas of the lung), medullary carcinomas of the thyroid and extra-adrenal paragangliomas. The objectives of the network are not only the pathological review of all newly diagnosed cases of neuroendocrine tumors, but also the epidemiological surveillance, the training of pathologists, the production of recommendations and the initiation of research projects. The organisation of the network includes a database in which all referred cases are declared and a virtual expert system making it possible collegial expertises in line. Twenty-two expert centers are currently participating to TENpath. A total of 1350 cases have been referred in 2011 and 1518 in 2012. Major discrepancies amounted up to 5.9% in 2011 and to 2.9% in 2012. They mainly involved problems of differential diagnosis and wrong evaluations of the differentiation status of the tumor. The lessons to draw from the first years of TENpath are: (a) the long-standing underestimation of the actual number of patients with neuroendocrine tumors in France, (b) a better delineation, based on objective data, of the cases raising actual problems of diagnosis, (c) the existence of cases raising problems of classification even to experts and justifying a particular effort of research. These informations will be important to discuss the future evolution of TENpath. PMID:24630635

  7. NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

    Science.gov (United States)

    Riva, Paola; Corrado, Lucia; Natacci, Federica; Castorina, Pierangela; Wu, Bai-Li; Schneider, Gretchen H.; Clementi, Maurizio; Tenconi, Romano; Korf, Bruce R.; Larizza, Lidia

    2000-01-01

    Summary Two familial and seven sporadic patients with neurofibromatosis 1—who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene—were investigated by use of a two-step FISH approach to characterize the deletions. With FISH of YAC clones belonging to a 7-Mb 17q11.2 contig, we estimated the extension of all of the deletions and identified the genomic regions harboring the breakpoints. Mosaicism accounted for the mild phenotype in two patients. In subsequent FISH experiments, performed with locus-specific probes generated from the same YACs by means of a novel procedure, we identified the smallest region of overlapping (SRO), mapped the deletion breakpoints, and identified the genes that map to each deletion interval. From centromere to telomere, the ?0.8-Mb SRO includes sequence-tagged site 64381, the SUPT6H gene (encoding a transcription factor involved in chromatin structure), and NF1. Extending telomerically from the SRO, two additional genes—BLMH, encoding a hydrolase involved in bleomycin resistance, and ACCN1, encoding an amiloride-sensitive cation channel expressed in the CNS—were located in the deleted intervals of seven and three patients, respectively. An apparently common centromeric deletion breakpoint was shared by all of the patients, whereas a different telomeric breakpoint defined a deletion interval of 0.8–3 Mb. There was no apparent correlation between the extent of the deletion and the phenotype. This characterization of gross NF1 deletions provides the premise for addressing correctly any genotype-phenotype correlation in the subset of patients with NF1 deletions. PMID:10631140

  8. Impact of the clinical context on the 14-3-3 test for the diagnosis of sporadic CJD

    Science.gov (United States)

    Cuadrado-Corrales, Natividad; Jiménez-Huete, Adolfo; Albo, Carmen; Hortigüela, Rafael; Vega, Luz; Cerrato, Laura; Sierra-Moros, Maríajosé; Rábano, Alberto; de Pedro-Cuesta, Jesús; Calero, Miguel

    2006-01-01

    Background The 14-3-3 test appears to be a valuable aid for the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) in selected populations. However, its usefulness in routine practice has been challenged. In this study, the influence of the clinical context on the performance of the 14-3-3 test for the diagnosis of sCJD is investigated through the analysis of a large prospective clinical series. Methods Six hundred seventy-two Spanish patients with clinically suspected sCJD were analyzed. Clinical classification at sample reception according to the World Health Organization's (WHO) criteria (excluding the 14-3-3 test result) was used to explore the influence of the clinical context on the pre-test probabilities, and positive (PPV) and negative (NPV) predictive values of the 14-3-3 test. Results Predictive values of the test varied greatly according to the initial clinical classification: PPV of 98.8%, 96.5% and 45.0%, and NPV of 26.1%, 66.6% and 100% for probable sCJDi (n = 115), possible sCJDi (n = 73) and non-sCJDi (n = 484) cases, respectively. According to multivariate and Bayesian analyses, these values represent an improvement of diagnostic certainty compared to clinical data alone. Conclusion In three different contexts of sCJD suspicion, the 14-3-3 assay provides useful information complementary to clinical and electroencephalographic (EEG) data. The test is most useful supporting a clinical impression, whilst it may show deceptive when it is not in agreement with clinical data. PMID:16872484

  9. Impact of the clinical context on the 14-3-3 test for the diagnosis of sporadic CJD

    Directory of Open Access Journals (Sweden)

    Sierra-Moros Maríajosé

    2006-07-01

    Full Text Available Abstract Background The 14-3-3 test appears to be a valuable aid for the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD in selected populations. However, its usefulness in routine practice has been challenged. In this study, the influence of the clinical context on the performance of the 14-3-3 test for the diagnosis of sCJD is investigated through the analysis of a large prospective clinical series. Methods Six hundred seventy-two Spanish patients with clinically suspected sCJD were analyzed. Clinical classification at sample reception according to the World Health Organization's (WHO criteria (excluding the 14-3-3 test result was used to explore the influence of the clinical context on the pre-test probabilities, and positive (PPV and negative (NPV predictive values of the 14-3-3 test. Results Predictive values of the test varied greatly according to the initial clinical classification: PPV of 98.8%, 96.5% and 45.0%, and NPV of 26.1%, 66.6% and 100% for probable sCJDi (n = 115, possible sCJDi (n = 73 and non-sCJDi (n = 484 cases, respectively. According to multivariate and Bayesian analyses, these values represent an improvement of diagnostic certainty compared to clinical data alone. Conclusion In three different contexts of sCJD suspicion, the 14-3-3 assay provides useful information complementary to clinical and electroencephalographic (EEG data. The test is most useful supporting a clinical impression, whilst it may show deceptive when it is not in agreement with clinical data.

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

    Directory of Open Access Journals (Sweden)

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

    Directory of Open Access Journals (Sweden)

    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.

  12. 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.

  13. 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.)

  14. MicroRNA Profiles in Familial and Sporadic Medullary Thyroid Carcinoma: Preliminary Relationships with RET Status and Outcome

    Science.gov (United States)

    Mian, Caterina; Pennelli, Gianmaria; Balistreri, Mariangela; Barollo, Susi; Cavedon, Elisabetta; Galuppini, Francesca; Pizzi, Marco; Vianello, Federica; Pelizzo, Maria Rosa; Girelli, Maria Elisa; Rugge, Massimo; Opocher, Giuseppe

    2012-01-01

    Background MicroRNAs (miRNAs) are involved in the pathogenesis of human cancers, including medullary thyroid carcinoma (MTC). The aim of this study was to test the hypothesis that different miRNA profiles are related to RET status and prognosis in patients with hereditary MTC (hMTC) and sporadic MTC (sMTC). Methods We analyzed the expression of nine miRNAs (miR-21, miR-127, miR-154, miR-224, miR-323, miR-370, miR-9*, miR-183, and miR-375) by quantitative real-time–polymerase chain reaction in 34 cases of sMTC, 6 cases of hMTC, and 2 cases of C-cell hyperplasia (CCH). We also analyzed the immunohistochemical expression of PDCD4, an miR-21 gene target. sMTC (n=34) was genotyped for somatic RET and RAS mutations. Disease status was defined on the basis of the concentration of serum calcitonin at the latest follow-up and other parameters as indicated in the results. Results MTC and CCH were both characterized by a significant overexpression of the whole set of miRNAs (the increase being 4.2-fold for miR-21, 6.7-fold for miR-127, 8.8-fold for miR-154, 6.6-fold for miR-224, 5.8-fold for miR-323, 6.1-fold for miR-370, 13-fold for miR-9*, 6.7-fold for miR-183, and 10.1 for miR-375, p<0.0001). PDCD4 expression was significantly downregulated in MTC samples, consistent with miR-21 upregulation. Significantly lower miR-127 levels were observed in sMTC carrying somatic RET mutations in comparison to sMTC carrying a wild-type RET. In sMTC and familial MTC, the miR-224 upregulation correlated with the absence of node metastases, lower stages at diagnosis, and with biochemical cure during follow-up. Conclusions miRNAs are significantly dysregulated in MTC, and this dysregulation is probably an early event in C-cell carcinogenesis. miR-224 upregulation could represent a prognostic biomarker associated with a better outcome in MTC patients. PMID:22747440

  15. Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).

    Science.gov (United States)

    Lamoril, Jér?me; Andant, Christophe; Gouya, Laurent; Malonova, Eva; Grandchamp, Bernard; Martásek, Pavel; Deybac, Jean-Charles; Puy, Hervé

    2002-02-01

    Porphyria cutanea tarda (PCT), a disorder characterized by a photosensitive dermatosis and hepatic siderosis, is caused by a decreased activity of the hepatic enzyme uroporphyrinogen decarboxylase (UROD). Two forms of PCT have been described: a familial one (fPCT) with an inherited decrease of UROD activity in all tissues and a sporadic one (sPCT) with a decreased UROD activity restricted to the liver. Iron overload and acquired factors including hepatic viral infections, alcohol, drugs contribute to the expression of PCT. In 65 French sPCT patients and 108 controls we have evaluated the respective role of iron and HCV status, the hemochromatosis (HFE) gene mutations frequencies (H63D. S65C, C282Y), and in a case control study we searched for an association between sPCT and the human transferrin receptor-1 (TFRC1) gene whose product is thought to be in functional association with the HFE protein: three single nucleotide polymorphisms (SNPs) previously characterized and 2 novel ones were studied. The iron-related parameters and transaminases were higher in sPCT patients than those of non-porphyric controls. Of the sPCT patients studied, 28% were HCV positive. In the HFE gene, 17% of sPCT patients carried C282Y mutation compared to 4% in controls, no significant differences were found with H63D and S65C variants. Compound heterozygous genotypes, C282Y/H63D or C282Y/S65C, were not significantly different in sPCT and control groups. Independently from HFE gene mutations, an association was found between the IVS4+198 T allele in the TFRC1 gene and sPCT patients. Analysis of HFE genotypes indicated that C282Y (but not H63D nor S65C) is a susceptibility factor for the development of sPCT in West European continental patients. However, analysis of TFRC1 genotypes suggest that sPCT should be considered as a multifactorial disorder in which other intracellular iron metabolism genes could be involved. PMID:11929045

  16. The controversial nosology of benign nerve sheath tumors: neurofilament protein staining demonstrates intratumoral axons in many sporadic schwannomas.

    Science.gov (United States)

    Nascimento, Alessandra F; Fletcher, Christopher D M

    2007-09-01

    Schwannomas are benign peripheral nerve sheath tumors believed to be composed purely of cells with ultrastructural features of Schwann cells; these tumors are believed to develop eccentrically from the surface of nerves and not to contain axons, other than immediately beneath the capsule. This concept has recently been disputed in cases associated with neurofibromatosis type 2. The usual presence of intratumoral axons in neurofibromas is said to allow easy distinction from schwannomas. Eighty sporadic schwannomas (20 conventional, 20 cellular, 20 ancient, 10 gastric, and 10 plexiform) were retrieved from the authors' files. Hematoxylin-and-eosin stained slides were reviewed, diagnoses were confirmed and all tumors were stained for S-100 protein and neurofilament protein (NFP). The amount (rare, focal, multifocal, and diffuse) and distribution (central and/or peripheral) of axons within the tumors were analyzed. All tumors were strongly and diffusely positive for S-100 protein (nuclear and cytoplasmic staining). NFP-positive axons were identified in 11 of 20 (55%) conventional schwannomas (2 rare, 4 focal, 3 multifocal, and 2 diffuse; 5 central, 4 peripheral, and 2 central and peripheral) and in 15 of 20 (75%) cellular schwannomas (3 rare, 6 focal, and 6 multifocal; 12 central, 1 peripheral, and 2 central and peripheral). Of the 20 ancient schwannomas, 7 cases (35%) showed intratumoral axons, highlighted by NFP immunostaining (1 rare, 4 focal, 1 multifocal, and 1 diffuse; 4 peripheral, 2 central, and 1 central and peripheral). Most cases of gastric schwannoma showed no evidence of intratumoral axons; 9 cases (90%) were negative for NFP and only 1 case (10%) was positive (focal and central). Seven of 10 cases (70%) of plexiform schwannomas were negative for NFP, whereas only 3 cases (30%) showed positive axons (2 multifocal and 1 focal; 3 central). The unexpected but quite frequent presence of intratumoral axons in schwannomas argues against conventional views of these lesions' pathogenesis as an eccentric encapsulated lesion and raises the possibility that a more diverse cell population, perhaps more closely resembling neurofibromas, may constitute these neoplasms. Although NFP-positive axons were most often present in the conventional and cellular variants of schwannoma, their presence was also observed in a minority of ancient, gastric and plexiform schwannomas. Differentiation between neurofibroma and schwannoma in cases with overlapping cytoarchitectural features should not be based solely on the presence or absence of NFP-positive axons within a given tumor. PMID:17721192

  17. Serological profile of sporadic acute viral hepatitis in an area of hyper-endemic hepatitis B virus infection

    Directory of Open Access Journals (Sweden)

    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. I-123 -FP-CIT and Tc-99m -HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism

    Energy Technology Data Exchange (ETDEWEB)

    Zanotti-Fregonara, P.; Ravasi, L. [CEA, DSV, I2BM, SHF, LMNRB, F-91401 Orsay (France); Vidailhet, M.; Roze, E. [Hop La Pitie Salpetriere, Serv Neurol, Paris (France); Vidailhet, M. [Univ Paris 06, INSERM, U679, Paris (France); Kas, A. [URA CNRS CEA 2210, Orsay (France); Kas, A. [Hop La Pitie Salpetriere, Nucl Med Serv, Paris (France); Ozelius, L.J. [Mt Sinai Sch Med, Dept Genet and Genome Sci, New York, NY (United States); Clot, F. [INSERM, UMR Neurol et Therapeut Expt S679, Paris (France); Clot, F. [Univ Paris 06, UPMC, UMR S679, Paris (France); Clot, F. [Hop La Pitie Salpetriere, Inst Federat Neurosci IFR70, Paris (France); Clot, F. [Hop La Pitie Salpetriere, AP-HP, Dept Genet et Cytogenet, Paris (France); Hindie, E. [Hop St Louis, Nucl Med Serv, Paris (France); Hindie, E. [Univ Paris 07, Imagerie Mol Diagnost et Ciblage Therapeut, Ecole Doctorale B2T, IUH, Paris (France); Devaux, J.Y. [Hop St Antoine, Nucl Med Serv, F-75571 Paris (France); Roze, E. [Univ Paris 06, CNRS, UMR 7102, Paris (France)

    2008-07-01

    Rapid-onset dystonia-parkinsonism (RDP) is a rare, autosomal-dominantly inherited syndrome characterized by abrupt onset, over hours to days, of dystonic and parkinsonian symptoms. To date, RDP has been described in a small number of families, and in only four sporadic cases. Methods: We here report a new sporadic case of RDP who has a novel de novo mutation in the ATP1A3 gene. Striatal dopamine transporters have been assessed quantitatively using [{sup 123}I]-FP-CIT SPECT. A volume of interest (VOI) was drawn within the occipital cortex to obtain non-specific activity and specific to nonspecific binding ratios (BR) were calculated. A single template of predefined VOI 3D-drawn on right and left caudate nucleus and putamen was applied to the spatially normalized BR images. BR values were compared to those obtained from an age-matched control group and from a group of patients suffering from Parkinson's disease (Hoehn and Yahr score 2 or 3). A [{sup 99m}Tc]-HMPAO cerebral blood flow study was also performed. Results: In the control group, BR values (mean Standard Deviation) were 3.5 {+-} 0.4 for the left striatum and 3.3 {+-} 0.3 for the right one. RDP patient's values were 3 and 2.7, respectively. In the Parkinson group, values were 1.6 {+-} 0.3 and 1.7 {+-} 0.4, respectively. [{sup 99m}Tc]-HMPAO scan showed homogeneous cortical and sub-cortical perfusion. Conclusion: Quantification of striatal [{sup 123}I]-FP-CIT uptake in a new Sporadic case of RDP with a novel mutation in the ATP1A3 gene showed values just within the range of normality. [{sup 99m}Tc]-HMPAO scan was normal. (authors)

  19. A statistical study of sporadic sodium layer observed by Sodium lidar at Hefei (31.8° N, 117.3° E)

    OpenAIRE

    Qiu, S.; Li, T.; Chen, C; X.-W. Cheng; W.-X. Wan; T.-D. Chen; X.-H. Xue; X.-K. Dou; Z.-Y. Chen

    2009-01-01

    Sodium lidar observations of sporadic sodium layers (SSLs) during the past 3 years at a mid-latitude location (Hefei, China, 31.8° N, 117.3° E) are reported in this paper. From 64 SSL events detected in about 900 h of observation, an SSL occurrence rate of 1 event every 14 h at our location was obtained. This result, combined with previous studies, reveals that the SSL occurrence can be relatively frequent at some mid-latitude locations. Statistical analysis of main parameters for the...

  20. Comparison of A? levels in the brain of Swedish APP670, 671 and PS1M146V mutation carriers and patients with sporadic Alzheimer's disease

    OpenAIRE

    Hellstrom-lindahl, E.; Viitanen, M.; Marutle, A.

    2009-01-01

    Mutations in presenilin (PS) and amyloid precursor protein (APP) genes are a major cause for early-onset familial Alzheimer disease (AD). We measured A? levels in the cortex of APPsw and PS1 (M146V) mutation carriers, sporadic AD (SAD) and non-demented individuals. Levels of insoluble and soluble A?40 and soluble A?42 in brain of APPsw mutation carriers did not differ much from those found in SAD, but lower levels of insoluble A?42 were detected in the frontal and temporal cortex of APPsw...

  1. Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

    Directory of Open Access Journals (Sweden)

    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.

  2. MiR-221 and MiR-222 Alterations in Sporadic Ovarian Carcinoma: Relationship to CDKN1B, CDKNIC and Overall Survival

    OpenAIRE

    Wurz, Kaitlyn; Rochelle L. Garcia; Goff, Barbara A.; Mitchell, Patrick S.; Lee, Jun Haeng; Tewari, Muneesh; Swisher, Elizabeth M

    2010-01-01

    MicroRNAs are often aberrantly expressed in human neoplasms and are postulated to play a role in neoplastic initiation and progression. miR-221 and miR-222 negatively regulate expression of CDKN1B (p27)and CDKN1C (p57), two cell cycle regulators expressed in ovarian surface epithelium and down-regulated in ovarian carcinomas. We characterized miR-221 and miR-222 expression in 49 sporadic high grade ovarian carcinomas and determined whether somatic mutation or epigenetic alterations explained ...

  3. Quinone formation as dopaminergic neuron-specific oxidative stress in the pathogenesis of sporadic Parkinson's disease and neurotoxin-induced parkinsonism.

    Directory of Open Access Journals (Sweden)

    Asanuma M

    2004-10-01

    Full Text Available Parkinson's disease (PD is a progressive neurodegenerative disease characterized by dopaminergic neuron-specific degeneration in the substantia nigra. A number of gene mutations and deletions have been reported to play a role in the pathogenesis of familial PD. Moreover, a number of pathological and pharmacological studies on sporadic PD and dopaminergic neurotoxin-induced parkinsonism have hypothesized that mitochondrial dysfunction, inflammation, oxidative stress, and dysfunction of the ubiquitin-proteasome system all play important roles in the pathogenesis and progress of PD. However, these hypotheses do not yet fully explain the mechanisms of dopaminergic neuron-specific cell loss in PD. Recently, the neurotoxicity of dopamine quinone formation by auto-oxidation of dopamine has been shown to cause specific cell death of dopaminergic neurons in the pathogenesis of sporadic PD and dopaminergic neurotoxin-induced parkinsonism. Furthermore, this quinone formation is closely linked to other representative hypotheses in the pathogenesis of PD. In this article, we mainly review recent studies on the neurotoxicity of quinone formation as a dopaminergic neuron-specific oxidative stress and its role in the etiology of PD, in addition to several neuroprotective approaches against dopamine quinone-induced toxicity.

  4. Over-representation of PPARgamma sequence variants in sporadic cases of glioblastoma multiforme: preliminary evidence for common low penetrance modifiers for brain tumour risk in the general population.

    Science.gov (United States)

    Zhou, X P; Smith, W M; Gimm, O; Mueller, E; Gao, X; Sarraf, P; Prior, T W; Plass, C; von Deimling, A; Black, P M; Yates, A J; Eng, C

    2000-06-01

    PPARgamma, the gamma isoform of a family of peroxisome proliferator activated receptors, plays a key role in adipocyte differentiation. Recently, its broad expression in multiple tissues and several epithelial cancers has been shown. Further, somatic loss of function mutations in PPARgamma have been found in primary colorectal carcinomas. We sought to determine if somatic high penetrance mutations in this gene might also play a role in glioblastoma multiforme (GBM). We also examined this gene to determine if common low penetrance polymorphic alleles might lend low level susceptibility to GBM in the general population. No somatic high penetrance mutations were detected in 96 sporadic GBMs. However, polymorphic alleles at codons 12 and 449 were significantly over-represented among the 27 unrelated American patients with sporadic GBM compared to 80 race matched controls. While nine (33%) were heterozygous for the P12A variant, c.34C/G (cytosine to guanine change at nucleotide 34), 12 (15%) controls were heterozygous for P12A (prepresentation of H449H in glioblastoma patients was confirmed with a second validation set of American patients. When both American series were combined, polymorphic H449H was over-represented among cases versus controls (pcolonies. PMID:10851250

  5. A statistical study of sporadic sodium layer observed by Sodium lidar at Hefei (31.8° N, 117.3° E

    Directory of Open Access Journals (Sweden)

    S. Qiu

    2009-06-01

    Full Text Available Sodium lidar observations of sporadic sodium layers (SSLs during the past 3 years at a mid-latitude location (Hefei, China, 31.8° N, 117.3° E are reported in this paper. From 64 SSL events detected in about 900 h of observation, an SSL occurrence rate of 1 event every 14 h at our location was obtained. This result, combined with previous studies, reveals that the SSL occurrence can be relatively frequent at some mid-latitude locations. Statistical analysis of main parameters for the 64 SSL events was performed. By examining the corresponding data from an ionosonde, a considerable correlation was found with a Pearson coefficient of 0.66 between seasonal variations of SSL and those of sporadic E (Es during nighttime, which was in line with the research by Nagasawa and Abo (1995. From comparison between observations from the University of Science and Technology of China (USTC lidar and from Wuhan Institute of Physics and Mathematics (WIPM lidar (Wuhan, China, 31° N, 114° E, the minimum horizontal range for some events was estimated to be over 500 km.

  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. 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)

  8. 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...

  9. 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.

    1627-16-01

    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.

  10. Immunohistochemical detection of the hMLH1 and hMSH2 proteins in hereditary non-polyposis colon cancer and sporadic colon cancer.

    Science.gov (United States)

    Plevová, P; Krepelová, A; Papezová, M; Sedláková, E; Curík, R; Foretová, L; Navrátilová, M; Novotný, J; Zapletalová, J; Palas, J; Nieslanik, J; Horácek, J; Dvorácková, J; Kolár, Z

    2004-01-01

    Defects in DNA mismatch repair system are involved in carcinogenesis of sporadic and inherited human cancers. We assessed the feasibility of using immunohistochemistry to detect tumors with DNA mismatch repair deficiency. We analyzed 81 samples (74 colon cancers (CC), 1 colon dysplasia and 6 extracolonic cancers) for hMLH1 and hMSH2 protein expression, microsatellite instability (MSI) and/or mutational analysis. A meta-analysis of the published data on immunohistochemistry of hMLH1/hMSH2 proteins was performed. Sensitivity and specificity of the method was calculated. Twenty four of 29 tumors from hMLH1/hMSH2 mutation carriers and 10 of 13 sporadic high frequency MSI tumors lost one of the proteins. None of the 42 tumors with stable microsatellites or low frequency MSI lost the proteins. Based on literature review of 49 publications on colorectal cancer, hMLH1 immunohistochemistry was able to detect 136 of 154 tumors from hMLH1 germline mutation carriers (the sensitivity of 88.3% [95%CI, 85.8-90.8%]), hMSH2 immunohistochemistry detected 99 of 109 tumors from hMSH2 mutation carriers (the sensitivity of 90.8% [95%CI, 88.5-93.1%]), and hMLH1/hMSH2 immunohistochemistry identified 1262 of 1382 tumors with high-frequency microsatellite instability not correlated with mutational analysis (the sensitivity of 91.3% [95%CI, 90.4-92.2%]). The specificity of the method was 99.4% (95%CI, 99.2-99.6%). In conclusion, immunohistochemistry of hMLH1 and hMSH2 proteins is a useful method to predict the presence of mismatch repair deficiency, although its sensitivity is lower than that of MSI analysis. PMID:15254659

  11. Uptake of 4-borono-2-[{sup 18}F]fluoro-L-phenylalanine in sporadic and neurofibromatosis 2-related schwannoma and meningioma studied with PET

    Energy Technology Data Exchange (ETDEWEB)

    Havu-Auren, Katja; Kiiski, Johanna; Lehtioe, Kaisa; Eskola, Olli; Oikonen, Vesa [University of Turku, Turku PET Centre, P.O. Box 52, Turku (Finland); Kulvik, Martti; Vaehaetalo, Jyrki [Helsinki University Central Hospital, Department of Neurology, Helsinki (Finland); Vuorinen, Ville [Turku University Central Hospital, Department of Neurosurgery, Turku (Finland); Jaeaeskelaeinen, Juha [Kuopio University Central Hospital, Department of Neurosurgery, Kuopio (Finland); Minn, Heikki [University of Turku, Turku PET Centre, P.O. Box 52, Turku (Finland); Turku University Central Hospital, Department of Oncology and Radiotherapy, Turku (Finland)

    2007-01-15

    Meningiomas and schwannomas associated with neurofibromatosis 2 (NF2) are difficult to control by microsurgery and stereotactic radiotherapy alone. Boron neutron capture therapy (BNCT) is a chemically targeted form of radiotherapy requiring increased concentration of boron-10 in tumour tissue. PET with the boron carrier 4-borono-2-[{sup 18}F]fluoro-L-phenylalanine ([{sup 18}F]FBPA) allows investigation of whether 4-borono-L-phenylalanine (BPA) concentrates in NF2 tumours, which would make BNCT feasible. We studied dynamic uptake of [{sup 18}F]FBPA in intracranial meningiomas (n=4) and schwannomas (n=6) of five sporadic and five NF2 patients. Tracer input function and cerebral blood volume were measured. [{sup 18}F]FBPA uptake in tumour and brain was assessed with a three-compartmental model and graphical analysis. These, together with standardised uptake values (SUVs), were used to define tumour-to-brain [{sup 18}F]FBPA tissue activity gradients. Model fits with three parameters K{sub 1} (transport), k{sub 2} (reverse transport) and k{sub 3} (intracellular metabolism) were found to best illustrate [{sup 18}F]FBPA uptake kinetics. Maximum SUV was two- to fourfold higher in tumour as compared with normal brain and independent of NF2 status. The increased uptake was due to higher transport of [{sup 18}F]FBPA in tumour. In multiple-time graphical analysis (MTGA, Gjedde-Patlak plot) the tumour-to-brain [{sup 18}F]FBPA influx constant (K{sub i} -MTGA) ratios varied between 1.8 and 5.4 in NF2-associated tumours while in sporadic tumours the ratio was 1-1.4. [{sup 18}F]FBPA PET offers a viable means to evaluate BPA uptake in meningiomas and schwannomas in NF2. Based on our results on tumour uptake of [{sup 18}F]FBPA, some of these benign neoplasms may be amenable to BNCT. (orig.)

  12. Enfermedad de Creutzfeldt-Jakob esporádica: dos casos en medicina intensiva Sporadic Creutzfeldt-Jakob disease: two cases in intensive care

    Directory of Open Access Journals (Sweden)

    P. Cardinal

    2011-02-01

    Full Text Available Las enfermedades priónicas o encefalopatías espongiformes son una familia de raras patologías neurodegenerativas caracterizadas por periodos de incubación prolongados asociados a una lenta, irreversible e invariablemente mortal evolución. En humanos se las clasifica en esporádica, adquirida y hereditaria o genética. Realizar el diagnóstico de «enfermedad de Creutzfeldt-Jakob» es un verdadero desafío para el médico intensivista dada la variabilidad en la presentación clínica y su baja incidencia. Se presentan 2 pacientes admitidos en la UCI en los que, tras descartar varias patologías, se diagnosticó con un nivel de «probabilidad», de acuerdo a la clasificación de la OMS, enfermedad de Creutzfeldt-Jakob esporádica. Se analizan aspectos diagnósticos clínicos y analíticos de la enfermedad resaltando la utilidad de la identificación de la proteína 14-3-3 en el líquido cefalorraquídeo.Prion diseases or spongiform encephalopathies are a family of rare neurodegenerative diseases characterized by long incubation periods associated with slow, irreversible and invariably fatal evolution. In humans, they are classified as sporadic, acquired and hereditary or genetic. Diagnosing sporadic "Creutzfeldt-Jakob Disease" (sCJD is a real challenge for the intensive care physician, given the variability in its clinical presentation and its low incidence. The cases of two patients admitted to the Intensive Care Unit are presented. After ruling out other diseases, they were diagnosed with sCJD with a likelihood level according to the World Health Organization Classification. Clinical and laboratory diagnostic aspects of the disease were analyzed, highlighting the utility of 14-3-3 protein identification in the cerebrospinal fluid.

  13. 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.

  14. No evidence for mutations in exons 1, 8 and 18 of the patched gene in sporadic skin lesions of Brazilian patients

    Scientific Electronic Library Online (English)

    F., Granja; P.L., Santarosa; J.L.A.A.P., Leite; L.S., Ward.

    2003-04-01

    Full Text Available There is strong evidence that the patched (PTCH) gene is a gene for susceptibility to the nevoid basal cell carcinoma syndrome. PTCH has also been shown to mutate in both familial and sporadic basal cell carcinomas. However, mutations of the gene seem to be rare in squamous cell carcinomas. In order [...] to characterize the role of the gene in the broader spectrum of sporadic skin malignant and pre-malignant lesions, we performed a polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis of genomic DNA extracted from 105 adult patients (46 females and 59 males). There were 66 patients with basal cell carcinomas, 30 with squamous cell carcinomas, 2 with malignant melanomas and 7 patients with precancerous lesions. Two tissue samples were collected from each patient, one from the central portion of the tumor and another from normal skin. Using primers that encompass the entire exon 1, exon 8 and exon 18, where most of the mutations have been detected, we were unable to demonstrate any band shift. Three samples suspected to present aberrant migrating bands were excised from the gel and sequenced directly. In addition, we sequenced 12 other cases, including tumors and corresponding normal samples. A wild-type sequence was found in all 15 cases. Although our results do not exclude the presence of clonal alterations of the PTCH gene in skin cancers or mutations in other exons that were not screened, the present data do not support the presence of frequent mutations reported for non-melanoma skin cancer of other populations.

  15. No evidence for mutations in exons 1, 8 and 18 of the patched gene in sporadic skin lesions of Brazilian patients

    Directory of Open Access Journals (Sweden)

    F. Granja

    2003-04-01

    Full Text Available There is strong evidence that the patched (PTCH gene is a gene for susceptibility to the nevoid basal cell carcinoma syndrome. PTCH has also been shown to mutate in both familial and sporadic basal cell carcinomas. However, mutations of the gene seem to be rare in squamous cell carcinomas. In order to characterize the role of the gene in the broader spectrum of sporadic skin malignant and pre-malignant lesions, we performed a polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP analysis of genomic DNA extracted from 105 adult patients (46 females and 59 males. There were 66 patients with basal cell carcinomas, 30 with squamous cell carcinomas, 2 with malignant melanomas and 7 patients with precancerous lesions. Two tissue samples were collected from each patient, one from the central portion of the tumor and another from normal skin. Using primers that encompass the entire exon 1, exon 8 and exon 18, where most of the mutations have been detected, we were unable to demonstrate any band shift. Three samples suspected to present aberrant migrating bands were excised from the gel and sequenced directly. In addition, we sequenced 12 other cases, including tumors and corresponding normal samples. A wild-type sequence was found in all 15 cases. Although our results do not exclude the presence of clonal alterations of the PTCH gene in skin cancers or mutations in other exons that were not screened, the present data do not support the presence of frequent mutations reported for non-melanoma skin cancer of other populations.

  16. Comparative Genomic Analysis of Two Novel Sporadic Shiga Toxin-Producing Escherichia coli O104:H4 Strains Isolated 2011 in Germany

    Science.gov (United States)

    Tietze, Erhard; Dabrowski, Piotr Wojciech; Prager, Rita; Radonic, Aleksandar; Fruth, Angelika; Auraß, Philipp; Nitsche, Andreas; Mielke, Martin; Flieger, Antje

    2015-01-01

    A large outbreak of gastrointestinal disease occurred in 2011 in Germany which resulted in almost 4000 patients with acute gastroenteritis or hemorrhagic colitis, 855 cases of a hemolytic uremic syndrome and 53 deaths. The pathogen was an uncommon, multiresistant Escherichia coli strain of serotype O104:H4 which expressed a Shiga toxin characteristic of enterohemorrhagic E. coli and in addition virulence factors common to enteroaggregative E. coli. During post-epidemic surveillance of Shiga toxin-producing E. coli (STEC) all but two of O104:H4 isolates were indistinguishable from the epidemic strain. Here we describe two novel STEC O104:H4 strains isolated in close spatiotemporal proximity to the outbreak which show a virulence gene panel, a Shiga toxin-mediated cytotoxicity towards Vero cells and aggregative adherence to Hep-2 cells comparable to the outbreak strain. They differ however both from the epidemic strain and from each other, by their antibiotic resistance phenotypes and some other features as determined by routine epidemiological subtyping methods. Whole genome sequencing of these two strains, of ten outbreak strain isolates originating from different time points of the outbreak and of one historical sporadic EHEC O104:H4 isolate was performed. Sequence analysis revealed a clear phylogenetic distance between the two variant strains and the outbreak strain finally identifying them as epidemiologically unrelated isolates from sporadic cases. These findings add to the knowledge about this emerging pathogen, illustrating a certain diversity within the bacterial core genome as well as loss and gain of accessory elements. Our results do also support the view that distinct new variants of STEC O104:H4 repeatedly might originate from yet unknown reservoirs, rather than that there would be a continuous diversification of a single epidemic strain established and circulating in Germany after the large outbreak in 2011. PMID:25836671

  17. 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

    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.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 mitocondrias 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.

  18. 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

  19. 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.

  20. Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants.

    Science.gov (United States)

    Xiromerisiou, G; Hadjigeorgiou, G M; Gourbali, V; Johnson, J; Papakonstantinou, I; Papadimitriou, A; Singleton, A B

    2007-01-01

    Mutations in SNCA and LRRK2 genes, encoding alpha-synuclein and leucine-rich repeat kinase 2, respectively, cause autosomal dominant Parkinson's disease (AdPD). The LRRK2 G2019S (c.6055G > A) and R1441G (c.4321C > G) mutations have also been identified in sporadic PD (sPD). We studied 55 unrelated patients with AdPD, 235 patients with sPD, and 235 healthy age- and gender-matched controls all of Greek origin. Patients with AdPD were screened for SNCA and LRRK2 mutations by direct sequencing. SNCA gene dosage analysis was also performed for AdPD using quantitative duplex polymerase chain reaction of genomic DNA. In addition, we investigated the frequency of the LRRK2 G2019S mutation in sPD. We found no missense mutations or multiplications in the SNCA gene. Here we report two novel variants, A211V (c.632C > T) and K544E (c.1630A > G) in LRRK2 gene in two patients with AdPD that was not present in controls. We identified only one patient with sPD (1/235; 0.4%) carrying the G2019S mutation. LRRK2 mutations are present in AdPD and sPD patients of Greek origin. PMID:17222106

  1. Comparison of A? levels in the brain of Swedish APP670, 671 and PS1M146V mutation carriers and patients with sporadic Alzheimer's disease

    Science.gov (United States)

    Hellstrom-Lindahl, E.; Viitanen, M.; Marutle, A.

    2008-01-01

    Mutations in presenilin (PS) and amyloid precursor protein (APP) genes are a major cause for early-onset familial Alzheimer disease (AD). We measured A? levels in the cortex of APPsw and PS1 (M146V) mutation carriers, sporadic AD (SAD) and non-demented individuals. Levels of insoluble and soluble A?40 and soluble A?42 in brain of APPsw mutation carriers did not differ much from those found in SAD, but lower levels of insoluble A?42 were detected in the frontal and temporal cortex of APPsw brain. Insoluble A?40 and A?42 were significant lower in all four cortical regions of PS1 brain compared with SAD, and A?40 was lower in frontal and occipital cortex compared with APPsw brain. The insoluble A?42/40 ratio was similar in SAD and APPsw but significantly higher in PS1 mutation carriers. Our results indicate that the pattern of A? deposition in PS1 mutation carriers differs from that in both APPsw and SAD, whereas the pattern in APPsw mutation carriers is more similar to that in SAD. The early onset and aggressive course of PS1 AD cannot solely be explained by elevated A? levels, at least in the PS1 M146V mutation carries investigated here. PMID:19524115

  2. 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

  3. Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature

    Science.gov (United States)

    Yahia, Sohier; Shams, Amany; Hasaneen, Bothina; Hassan Hassan, Rasha; Wahba, Yahya; Salem, Nanees Abdel-Badie; Abdel-Hady, Dina

    2013-01-01

    Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant severe musculoskeletal disease characterized by extensive new bone formation within soft connective tissues and unique skeletal malformations of the big toes which represent a birth hallmark for the disease. Most of the isolated classic cases of FOP showed heterozygous mutation in the ACVR1 gene on chromosome 2q23 that encodes a bone morphogenetic protein BMP (ALK2). The most common mutation is (c.617G > A) leading to the amino acid substitution of arginine by histidine (p.Arg206His). We currently report on an Egyptian infant with a sporadic classic FOP in whom c.617G > A mutation had been documented. The patient presented with the unique congenital malformation of big toe and radiological evidence of heterotopic ossification in the back muscles. The triggering trauma was related to the infant's head, however; neither neck region nor sites of routine intramuscular vaccination given during the first year showed any ossifications. Characterization of the big toe malformation is detailed to serve as an early diagnostic marker for this rare disabling disease. PMID:23424689

  4. Multilocus Variable-Number Tandem-Repeat Analysis, Pulsed-Field Gel Electrophoresis, and Antimicrobial Susceptibility Patterns in Discrimination of Sporadic and Outbreak-Related Strains of Yersinia enterocolitica

    Directory of Open Access Journals (Sweden)

    Skurnik Mikael

    2011-02-01

    Full Text Available Abstract Background We assessed the potential of multilocus variable-number tandem-repeat analysis (MLVA, pulsed-field gel electrophoresis (PFGE, and antimicrobial susceptibility testing for discriminating 104 sporadic and outbreak-related Yersinia enterocolitica (YE bio/serotype 3-4/O:3 and 2/O:9 isolates. MLVA using six VNTR markers was performed in two separate multiplex PCRs, and the fluorescently labeled PCR products were accurately sized on an automated DNA sequencer. Results MLVA discriminated 82 sporadic YE 3-4/O:3 and 2/O:9 strains into 77 types, whereas PFGE with the restriction enzyme NotI discriminated the strains into 23 different PFGE pulsotypes. The discriminatory index for a sporadic strain was 0.862 for PFGE and 0.999 for MLVA. MLVA confirmed that a foodborne outbreak in the city of Kotka, Finland in 2003 had been caused by a multiresistant YE 4/O:3 strain that was distinctly different from those of epidemiologically unrelated strains with an identical PFGE pulsotype. The multiresistance of Y. enterocolitica strains (19% of the sporadic strains correlated significantly (p = 0.002 with travel abroad. All of the multiresistant Y. enterocolitica strains belonged to four PFGE pulsotypes that did not contain any susceptible strains. Resistance to nalidixic acid was related to changes in codons 83 or 87 that stemmed from mutations in the gyrA gene. The conjugation experiments demonstrated that resistance to CHL, STR, and SUL was carried by a conjugative plasmid. Conclusions MLVA using six loci had better discriminatory power than PFGE with the NotI enzyme. MLVA was also a less labor-intensive method than PFGE and the results were easier to analyze. The conjugation experiments demonstrated that a resistance plasmid can easily be transferred between Y. enterocolitica strains. Antimicrobial multiresistance of Y. enterocolitica strains was significantly associated with travel abroad.

  5. RPS6KA2, a putative tumour suppressor gene at 6q27 in sporadic epithelial ovarian cancer

    DEFF Research Database (Denmark)

    Bignone, P A; Lee, K Y

    2007-01-01

    We had previously defined by allele loss studies a minimal region at 6q27 (between D6S264 and D6S297) to contain a putative tumour suppressor gene. The p90 ribosomal S6 kinase-3 gene (p90 Rsk-3, RPS6KA2) maps in this interval. It is a serine-threonine kinase that signals downstream of the mitogen-activated protein kinase pathway. It is expressed in normal ovarian epithelium, whereas reduced or absent in tumours or cell lines. We show that RPS6KA2 is monoallelically expressed in the ovary suggesting that loss of a single expressed allele is sufficient to cause complete loss of expression in cancer cells. Further, we have identified two new isoforms of RPS6KA2 with an alternative start codon. Homozygous deletions were identified within the RPS6KA2 gene in two cell lines. Re-expression of RPS6KA2 in ovarian cancer cell lines suppressed colony formation. In UCI101 cells, the expression of RPS6KA2 reduced proliferation, caused G1 arrest, increased apoptosis, reduced levels of phosphorylated extracellular signal-regulated kinase and altered other cell cycle proteins. In contrast, small interfering RNA against RPS6KA2 showed the opposite effect in 41M cells. The above results suggest that RPS6KA2 is a putative tumour suppressor gene to explain allele loss at 6q27.

  6. 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.

  7. Enfermedad de Creutzfeldt-Jakob esporádica: dos casos en medicina intensiva / Sporadic Creutzfeldt-Jakob disease: two cases in intensive care

    Scientific Electronic Library Online (English)

    P., Cardinal; I., Pedemonte; J., Castelli; E., Zitto; A., Cacciatore; N., Zefferino.

    2011-02-01

    Full Text Available Las enfermedades priónicas o encefalopatías espongiformes son una familia de raras patologías neurodegenerativas caracterizadas por periodos de incubación prolongados asociados a una lenta, irreversible e invariablemente mortal evolución. En humanos se las clasifica en esporádica, adquirida y heredi [...] taria o genética. Realizar el diagnóstico de «enfermedad de Creutzfeldt-Jakob» es un verdadero desafío para el médico intensivista dada la variabilidad en la presentación clínica y su baja incidencia. Se presentan 2 pacientes admitidos en la UCI en los que, tras descartar varias patologías, se diagnosticó con un nivel de «probabilidad», de acuerdo a la clasificación de la OMS, enfermedad de Creutzfeldt-Jakob esporádica. Se analizan aspectos diagnósticos clínicos y analíticos de la enfermedad resaltando la utilidad de la identificación de la proteína 14-3-3 en el líquido cefalorraquídeo. Abstract in english Prion diseases or spongiform encephalopathies are a family of rare neurodegenerative diseases characterized by long incubation periods associated with slow, irreversible and invariably fatal evolution. In humans, they are classified as sporadic, acquired and hereditary or genetic. Diagnosing sporadi [...] c "Creutzfeldt-Jakob Disease" (sCJD) is a real challenge for the intensive care physician, given the variability in its clinical presentation and its low incidence. The cases of two patients admitted to the Intensive Care Unit are presented. After ruling out other diseases, they were diagnosed with sCJD with a likelihood level according to the World Health Organization Classification. Clinical and laboratory diagnostic aspects of the disease were analyzed, highlighting the utility of 14-3-3 protein identification in the cerebrospinal fluid.

  8. 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

  9. 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.

  10. 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

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. Western-style diet-induced colonic tumors and their modulation by calcium and vitamin D in C57Bl/6 mice: a preclinical model for human sporadic colon cancer

    OpenAIRE

    Newmark, Harold L.; YANG, KAN; Kurihara, Naoto; Fan, Kunhua; Leonard H. Augenlicht; Lipkin, Martin

    2008-01-01

    We reported previously that a new Western-style diet (NWD) for 18 months, consisting of elevated lipids and decreased calcium, vitamin D and methyl-donor nutrients, induced colonic tumors in normal C57Bl/6 mice [Newmark,H.L. et al. (2001) A Western-style diet induces benign and malignant neoplasms in the colon of normal C57Bl/6 mice. Carcinogenesis, 22, 1871–1875], suggesting a new mouse model for human sporadic colon cancer. Here, we have extended this study during a longer feeding period ...

  16. 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.

  17. 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.

  18. 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

  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. 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.

  1. Comportamiento del CA 19.9 y de la fracción HDL-colesterol en una muestra de pacientes con carcinoma colorrectal esporádico / CA 19.9 and HDL-cholesterol behaviour in a sporadic colorectal carcinoma sample

    Scientific Electronic Library Online (English)

    J. L., Méndez-Mora; M., Ortega-Calvo; A., Cayuela-Domínguez; J. M., Villadiego-Sánchez; M. M., Barros-Pérez; J., Cantillana-Martínez.

    2004-05-01

    Full Text Available Fundamento y objetivo: Hemos realizado un estudio comparativo del valor de predicción diagnóstica en el carcinoma colorrectal esporádico (CCRE) de los diferentes lípidos plasmáticos y de los marcadores tumorales utilizados comúnmente para esta neoplasia (antígeno cárcinoembrionario, CA 19.9 y ácido [...] siálico). Pacientes y métodos: Estudio transversal hospitalario de casos y controles no pareados. Se recogieron un total de 53 casos incidentes de CCRE (90% de ellos en estadío A y B de Dukes) y 40 controles con patología no neoplásica en el mismo servicio. Realizamos un análisis con regresión logística no condicionada (RL) multivariante. Los intervalos de confianza (IC) estimados fueron del 95%. La sensibilidad (S) y la especificidad (E) del modelo final se calcularon con un punto de corte del 50%. Realizamos también un estudio de posibles interacciones. Resultados: Los tres marcadores tumorales utilizados estuvieron elevados en los casos con respecto a los controles (p Abstract in english Background and objective: We have carried out a comparative prediction analysis in sporadic colorectal carcinoma of plasmatic lipids and currently tumor markers used in this neoplasia (carcinoembrionary antigen - CEA, CA 19.9 and sialic acid -SA). Patients and methods: Transversal hospital-based cas [...] e-control study. Sample was composed by 53 sporadic colorectal neoplasia patients just before surgery and 40 non matched controls. A 90 per cent of cases were at Dukes A and B stages. A multivariable model was fitted with non-conditional logistic regression. Confidence intervals were calculated at 95 per cent of confidence. Model sensibility and specificity were performed at 50 per cent cutting point. We also explored possible interactions. Results: All three tumor markers (CEA, CA 19.9 and SA) were elevated in cases (p

  2. 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 ...

  3. Enterococcus faecalis Induces A neuploidy and Tetraploidy in Colonic Epithelial Cells through a Bystander Effect

    OpenAIRE

    Wang, Xingmin; Allen, Toby D.; May, Randal J.; Lightfoot, Stanley; HOUCHEN, COURTNEY W.; Huycke, Mark M.

    2008-01-01

    Intestinal commensals are potential important contributors to the etiology of sporadic colorectal cancer but mechanisms by which bacteria can initiate tumors remain uncertain. Herein we describe mechanisms that link Enterococcus faecalis, a bacterium known to produce extracellular superoxide, to the acute induction of chromosomal instability. Immortalized human and non-transformed murine colonic epithelial cells, along with a mouse colonic ligation model, were used to assess the effect of E. ...

  4. Understanding effects of armed conflict on health outcomes: the case of Nepal

    OpenAIRE

    van Teijlingen Edwin R; Devkota Bhimsen

    2010-01-01

    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 se...

  5. Patients with familial non-medullary thyroid cancer have an outcome similar to that of patients with sporadic papillary thyroid tumors Pacientes com câncer não medular familiar da tiroide têm evolução similar aos portadores de câncer papilífero esporádico

    Directory of Open Access Journals (Sweden)

    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.OBJETIVO: O objetivo deste estudo foi determinar se o câncer de tiroide não medular (CNMF é mais agressivo do que o câncer esporádico de tiroide. SUJEITOS E MÉTODOS: Comparamos o comportamento clínico e a evolução de 16 portadores de CNMF de sete famílias não relacionadas com 160 CP (câncer papilífero esporádicos de nosso serviço. RESULTADOS: As únicas diferenças nas caracter?sticas basais dos grupos eram: malignidade bilateral 38% vs. 24%, respectivamente (p = 0,03, e metástases linfonodais, 57,1% vs. 39%, respectivamente (p = 0,01. Em relação à evolução, 9 (56,2% pacientes com CNMF ficaram livres de doença, um paciente faleceu devido ao CP (6% e 6/16 (37,5% apresentavam persistência da doença. No grupo de CP esporádicos, 87 (54% foram considerados livres de doença, 11 (7% morreram em decorr?ncia do CP e 62 (38% apresentavam persistência da doença (p = ns. CONCLUSÃO: Apesar da elevada incidência de metástases linfonodais nos pacientes com CNMF, essa situação não parece alterar a evolução dos dois grupos em longo prazo.

  6. 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.

  7. 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

  8. Intensive short-term chemotherapy regimen induces high remission rate (over 90%) and event-free survival both in children and adult patients with advanced sporadic Burkitt lymphoma/leukemia.

    Science.gov (United States)

    Todeschini, Giuseppe; Bonifacio, Massimiliano; Tecchio, Cristina; Balter, Rita; Carli, Giuseppe; Stefani, Piero Maria; Adami, Fausto; Zamò, Alberto; Dei Tos, Angelo Paolo; Marino, Filippo; Gherlinzoni, Filippo; Marradi, Pierluigi; Semenzato, Giampietro; Pizzolo, Giovanni

    2012-01-01

    The optimal treatment of advanced sporadic Burkitt lymphoma in adults is still a matter of debate. The salutary results of pediatric therapies did open the road for improving the adult outcome. Between May 1988 and March 2009, 71 consecutive patients-46 adults, 25 children-affected by Burkitt lymphoma/leukemia were treated with the same intensive pediatric protocol alternating vincristine, adriamycine and fractionated ciclophosphamide (phase A) with high dose methotrexate and high dose cytarabine (phase B) in four Italian institutions. Eighty-nine per cent of patients were in Stage III-IV or had L3 leukemia. Complete remissions were 67/71 (94.4%), 24/25 (96%) in children, and 43/46 (93.5%) in adults. Toxic deaths were 3/71 (4.2%), all in adults. There were nine relapses (one in children, eight in adults), all but one observed early. After a median observation of 94 months (range 23-275), the Event-Free Survival rate is 92% in children and 71.7% in adults (P = 0.067). The 23 more recent adults received also rituximab, without differences in outcome as compared to patients who did not. Our experience confirms that such an intensive pediatric-derived chemotherapy is feasible and improves the long-term outcome of adults with advanced Burkitt lymphoma. PMID:22086870

  9. Studies of the Space Weather Effects in the Ionospheric Brasilian Enviroment in the Middle and Low Latitudes, Wich the Purpose to Development of the Previson pf the Possible Evidences in the Local Space Weather

    Science.gov (United States)

    Resende, Laysa; Sobral, José; Almeida, Pedro; Marcos Denardini, Clezio; Carlotto Aveiro, Henrique

    In the present paper we show some results related to the study of ionospheric E-region behavior and sporadic layers occurrence over São Lú (2o 31´ S, 44o 16´ W) and Cachoeira Paulista a ?s ° ° (22 39´ S, 45 00´ O), Brazil. The study has the purpose to identify possible evidences of the reaction of the Magnetosphere-Ionosphere system to the strong magnetic storm in the ionospheric E-region.. The sporadic layer occurs at E region heights as sharp thickness lower than 10 km, and is characterized by its variability and higher eletron density when compared with its surrounding region. Depending on altitude and latitude of observation the sporadic layer presents distinct morphology and mechanisms of genereration. In order to check the geomagnetic storms effects, we analyzed the E region's ionospheric parameters obtained from ionograms recorded by digital ionosondes. The achieved results evidenced that the E-region and the sporadic layer, depending upon the magnetic activity level and its latitudinal location, may present a different behavior.

  10. 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.)

  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. Characterization of azoxymethane-induced colon tumor metastasis to lung in a mouse model relevant to human sporadic colorectal cancer and evaluation of grape seed extract efficacy.

    Science.gov (United States)

    Derry, Molly M; Raina, Komal; Agarwal, Rajesh; Agarwal, Chapla

    2014-08-01

    The second leading cause of cancer-related deaths (both genders combined) in the United States is colorectal cancer (CRC). This emphasizes the need to develop both effective therapies for CRC patients and pre-clinical models mimicking human disease that carry translational potential in drug-development. Notably, at present there are no in situ models of CRC metastasis to lung. In our azoxymethane-induced colon tumorigenesis study in A/J mice assessing grape seed extract (GSE) efficacy, during necropsy we also found multiple lung nodules suggestive of colon tumor metastasis to lung that were significantly inhibited in GSE fed group. Both histopathological and molecular studies were performed to characterize and establish the origin of these lesions in lung. Histologically these nodules were determined as adenocarcinoma of mucin origin. Molecular analyses by immunohistochemistry (IHC) and RT-PCR revealed strong protein and transcript levels of colon specific markers CDX2 and CK20 in these lung nodules compared to uninvolved control lung tissue. Vis-à-vis, these nodules also showed minimally expressed lung specific biomarkers, specifically surfactant D and TTF-1, in IHC analysis. Additionally, 0.25% GSE supplementation in diet (w/w) decreased the incidence of these lung nodules by 53% and their total number by 66%. Together, the characterization of this unique in situ mouse model of CRC metastasis to lung provides translational opportunities in developing effective therapies to clinically manage and treat CRC at the advanced stage. Moreover, GSE efficacy in inhibiting CRC metastasis to lung in this model further supports its translational potential in controlling CRC growth, progression and metastasis in patients. PMID:24670932

  13. Sporadic Creutzfeldt-Jakob disease: a clinico-neuropathological analysis of nine definite cases / Doença de Creutzfeldt-Jakob do tipo esporádico: análise clínico-neuropatológica de nove casos da forma definida

    Scientific Electronic Library Online (English)

    CARLOS M. DE CASTRO, COSTA; JEAN MARIE, BRUCHER; CHRISTIAN, LATERRE.

    1998-09-01

    Full Text Available Os autores analisaram, do ponto de vista clínico e neuropatológico, nove casos da forma esporádica definida da doença de Creutzfeldt-Jakob (DCJ). Todos eles eram mulheres, com idade média de 62,7 anos. Oitenta e nove por cento dos pacientes exibiram sintomas psiquiátricos prodrômicos e iniciais; sin [...] ais típicos de demência e mioclonias estavam presentes em 100% deles. O EEG foi anormal em todos os casos e apresentou paroxismos pseudoperiódicos em 56% dos pacientes. O tempo de evolução da doença variou de 3 a 19 meses. Do ponto de vista neuropatológico, atrofia cerebral e cerebelar, espongiose, astrocitose e perda neuronal estavam presentes em 100% dos pacientes. Em 5 (56%) dos 9 casos, foi evidenciada, por microscopia óptica e eletrônica, a presença de placas amilóides de proteína prion (PrP) no cerebelo. Havia correlação positiva entre o número de placas e o tempo de evolução da doença. Os autores salientam as semelhanças desses seus casos de pacientes idosos com a nova variante de DCJ descrita em pessoas jovens. Abstract in english The authors have analyzed clinico-neuropathologically nine cases of the definite sporadic form of Creutzfeldt-Jakob disease (CJD). All cases were female, with mean age of 62.7 years. Eighty-nine percent of the patients exhibited prodromal and initial psychiatric symptoms; definite signs of dementia, [...] and myoclonus were present in 100% of cases. The EEG was abnormal in all cases and pseudoperiodic paroxysms were present in 56% of the patients. Their evolution time ranged from 3 to 19 months. Neuropathologically, brain and cerebellar atrophy, spongiosis, astrocytosis and neuronal loss were present in 100% of the patients. In 5 (56%) of these 9 cases, prion protein (PrP) amyloid plaques were detected in the cerebellum, by optical- and electronmicroscopy. There was a positive correlation between the number of plaques and the evolution time. The authors outline the similarities of their cases in the elderly with the new variant of CJD described in young people.

  14. 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.

    1181-11-01

    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.

  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

    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.

  16. True hermaphroditism in a 46, XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): Molecular genetics and histological findings in a sporadic case

    Energy Technology Data Exchange (ETDEWEB)

    Braun, A.; Kammerer, S.; Cleve, H.; Loehrs, U.; Schwarz, H.P.; Kuhnle, U. (Univ. of Munich (Germany))

    1993-03-01

    Recently, the gene for the determination of maleness has been identified in the sex-determining region on the short arm of the Y chromosome (SRY) between the Y-chromosomal pseudoautosomal boundary (PABY) and the ZFY gene locus. Experiments with transgenic mice confirmed that SRY is a part of the testis-determining factor (TDF). The authors describe a sporadic case of a patient with intersexual genitalia and the histological finding of ovotestes in the gonad, which resembles the mixed type of gonadal tissue without primordial follicle structures. The karyotype of the patient was 46,XY. By PCR amplification, they tested for the presence of SRY by using DNA obtained from histological gonadal slices. The SRY products of both DNA preparations were further analyzed by direct sequencing. All three parts of the sex-determining region of the Y chromosome could be amplified from leukocytic DNA. The patient's and the father's SRY sequences were identical with the published sequence. In the SRY PCR product of gonadal DNA, the wild-type and two point mutations were present in the patient's sequence, simulating a heterozygous state of a Y-chromosomal gene: one of the mutations was silent, while the other encoded for a nonconservative amino acid substitution from leucine to histidine. Subcloning procedures showed that the two point mutations always occurred together. The origin of the patient's intersexuality is a postzygotic mutation of the SRY occurring in part of the gonadal tissue. This event caused the loss of the testis-determining function in affected cells. 37 refs., 6 figs.

  17. FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region

    Scientific Electronic Library Online (English)

    J.C., Llerena Jr.; J.C., Cabral de Almeida; E., Bastos; J.A., Crolla.

    2000-09-01

    Full Text Available O estudo citogenético convencional em uma menina com aniridia esporádica resultou em uma aparente translocação balanceada t(11;13)(p13;q33) de novo. Entretanto, o estudo citogenético pela hibridação in situ fluorescente (FISH) detectou a presença de uma deleção críptica 11p13p14, incluindo a região [...] WAGR e envolvendo aproximadamente 7.5 Mb de DNA, deletando os genes PAX6 e WT1. Estes resultados correlacionam-se com o quadro clínico da paciente e a coloca em alto risco de desenvolver tumor de Wilms. A ausência de retardo mental na paciente indica que a posição distal do ponto de quebra poderá refinar o mapeamento do locus retardo mental na síndrome de genes contíguos WAGR (Wilms, aniridia, anomalias genitais e retardo mental). Abstract in english Conventional cytogenetic studies on a female infant with sporadic aniridia revealed what appeared to be a balanced de novo t(11;13) (p13;q33) translocation. Fluorescence in situ hybridization (FISH) investigations, however, detected the presence of a cryptic 11p13p14 deletion which included the WAGR [...] region and involved approximately 7.5 Mb of DNA, including the PAX6 and WT1 genes. These results account for the patient's aniridia, and place her at high risk for developing Wilms' tumour. The absence of mental retardation in the patient suggests that the position of the distal breakpoint may also help to refine the mental retardation locus in the WAGR contiguous gene syndrome (Wilms', aniridia, genital anomalies and mental retardation).

  18. 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.

  19. 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.

  20. Is optimum and effective work done in administrative jurisdiction

    International Nuclear Information System (INIS)

    Is optimum and effective work done in administrative jurisdiction. The author describes the general situation prevailing in administrative jurisdiction. He gives tables on the number of subjects received per annum, of judges administering justice and figures on executed and non-executed proceedings. He reports on districts of jurisdiction, personnel, court administration and the amount of work. The investigation into administrative jurisdiction has shown accomplishments for 1978 which are not bad at all. Sporadic administrative shortcomings are to be realized and put to an end. (HSCH)

  1. Molecular genetic studies of sporadic pituitary tumors.

    OpenAIRE

    Boggild, MD; Jenkinson, S.; Pistorello, M; Boscaro, M; Scanarini, M; McTernan, P; Perrett, CW; Thakker, RV; Clayton, RN

    1994-01-01

    Tumor formation may result from the activation of dominant oncogenes or by inactivation of recessive, tumor suppressor genes. The role of such mutations in the development of pituitary tumors has been studied. Tumors from 88 patients, representing the 4 major classes of adenoma, were investigated. In DNA extracted from matched leukocyte and tumor samples, allelic deletions were sought with 15 probes identifying restriction fragment length polymorphisms on chromosomes 1, 5, 10, 11, 13, 17, 20,...

  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

    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. 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

  5. Occult sporadic insulinoma: Localization and surgical strategy

    OpenAIRE

    Bassam Abboud, Joe Boujaoude

    2008-01-01

    Insulinomas continue to pose a diagnostic challenge to physicians, surgeons and radiologists alike. Most are intrapancreatic, benign and solitary. Biochemical diagnosis is obtained and imaging techniques to localize lesions continue to evolve. Surgical resection is the treatment of choice. Despite all efforts, an occult insulinoma (occult insulinoma refers to a biochemically proven tumor with indeterminate anatomical site before operation) may still be encountered. New localization preoperati...

  6. Chromosome 11 allele loss in sporadic insulinoma.

    OpenAIRE

    Patel, P.; O Rahilly, S.; Buckle, V.; Nakamura, Y.; Turner, R. C.; Wainscoat, J. S.

    1990-01-01

    DNA was extracted from tissue samples of three unrelated cases of insulinoma. Chromosome 11 allele loss was investigated using several chromosome 11 specific probes which detect restriction fragment length polymorphisms. In one case, which proved informative for many of the chromosome 11 markers, allele loss was shown on both 11p and 11q. This finding is of considerable interest as the allele loss closely corresponds to that recently reported in insulinomas occurring in the familial multiple ...

  7. Occult sporadic insulinoma: Localization and surgical strategy

    Directory of Open Access Journals (Sweden)

    Bassam Abboud, Joe Boujaoude

    2008-02-01

    Full Text Available Insulinomas continue to pose a diagnostic challenge to physicians, surgeons and radiologists alike. Most are intrapancreatic, benign and solitary. Biochemical diagnosis is obtained and imaging techniques to localize lesions continue to evolve. Surgical resection is the treatment of choice. Despite all efforts, an occult insulinoma (occult insulinoma refers to a biochemically proven tumor with indeterminate anatomical site before operation may still be encountered. New localization preoperative techniques decreases occult cases and the knowledge of the site of the mass before surgery allows to determine whether enucleation of the tumor or pancreatic resection is likely to be required and whether the tumor is amenable to removal via a laparoscopic approach. In absence of preoperative localization and intraoperative detection of an insulinoma, blind pancreatic resection is not recommended.

  8. Paroxysmal neuromyotonia: A new sporadic channelopathy

    OpenAIRE

    Pulkes, T.; Dejthevaporn, C.; Apiwattanakul, M.; Papsing, C.; Hanna, M. G.

    2012-01-01

    Neuromyotonia is a heterogeneous group of genetic and autoimmune channelopathies resulting in hyperexcitability of peripheral nerves. We report an unusual case of neuromyotonia, which to our knowledge has not been previously described. The patient developed intermittent attacks of severe painful muscle stiffness accompanied by sweating, myokymia and raised serum creatine kinase. Genetic analysis of KCNA1, KCNQ2 and SCN4A genes did not identify pathogenic mutation. Serum voltage-gated...

  9. Sporadic Ataxia and Multiple System Atrophy (MSA)

    Science.gov (United States)

    ... with a chronic neurologic disorder, to have a neurologist who knows you well and with whom you ... problems as they arise. The referring physician or neurologist may refer you to other specialists, including a ...

  10. Interactive effect of water stress and nitrogen on plant height and root length of wheat (Triticum aestivum L.

    Directory of Open Access Journals (Sweden)

    Abdul Ghani

    2000-01-01

    Full Text Available 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 applied at higher rates had effectively balanced the adverse effects of water stress.

  11. 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±1.45years. Calcium, phosphate, and PTH were 6.3±0.23mg/dL, 7.7±0.33mg/dL, and 305±34.5pg/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

  12. 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.

  13. 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

    Directory of Open Access Journals (Sweden)

    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.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 cirurgia 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.

  14. The APOE-491 A/T promoter polymorphism effect on cognitive profile of Alzheimer's patients.

    Science.gov (United States)

    Valenza, A; Bizzarro, A; Marra, C; Lauria, A; Guglielmi, V; Rossi, C; Tiziano, F D; Brahe, C; Masullo, C

    2010-03-26

    Alzheimer's Disease (AD) is a neurodegenerative disorder with a complex aetiology displayed by multiple pathogenic factors. The APOE varepsilon4 allele represents the only established genetic risk factor for sporadic AD; in addition, previous findings on three single nucleotide polymorphisms (SNPs) located on the APOE promoter region, have led to a growing interest in their potential role in AD pathogenesis. The -491 A/T promoter polymorphism has been the one most frequently shown to be associated with AD, as it influences the APOE coding region transcription. The aim of this study was to evaluate the possible effect of the -491 A/T polymorphism on the cognitive profile of sporadic AD patients with a disease severity ranging from mild to moderate. Our results showed that patients carrying the -491 AA genotype had poorer cognitive performances than the -491 AT ones, statistically significant in demanding tests of visual attention, especially for the late-onset AD (LOAD). No further differences on cognitive profile were observed when stratifying AA and AT patients according to their APOE genotype. These results suggest a possible functional effect of the -491 A/T promoter on the neuropsychological performances of AD. This role seems to be independent of APOE genotype. In fact the effect of -491 A/T occurs predominantly on attention while the APOE varepsilon4 allele mainly affects memory performances. According to the biological effect exerted on APOE transcription, the -491 A/T polymorphism could be considered a disease modifier more than a risk factor for sporadic AD. PMID:20152880

  15. 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.

  16. Interactive Effect of Water Stress and Nitrogen on Yield and Biomass of Wheat (Triticum aestivum L.

    Directory of Open Access Journals (Sweden)

    Abdul Ghani

    1999-01-01

    Full Text Available 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 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 applied at higher rates had effectively balanced the adverse effects of water stress.

  17. 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

  18. 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.

  19. Impact of edge localized mode on photo-elastic-modulator based motional Stark effect polarimetry

    International Nuclear Information System (INIS)

    Intermittent increase in background light induced by edge localized mode (ELM) in high confinement mode (H-mode) plasma gives disturbances to polarization angle of incident light measured by motional Stark effect (MSE) polarimeter using photo-elastic modulator (PEM), even if the background light is not polarized. The error in the polarization angle ?PEM determined by the light intensity at the frequency modulated by the PEM originates in a broadband frequency spectrum of the intermittent background light and applies to PEM based polarimeter in general. The impact of the background light induced by the ELM on the error in ?PEM is numerically investigated in terms of the polarization angle of incident light ?, the peak intensity of background light normalized by the intensity of beam emission XELM, ELM frequency fELM, ELM decay time ?ELM and the time constant of low-pass filter (LPF) per single stage ?LPF. The error increases almost proportionally with ? between ±22.5° when inphase spectral amplitude is used in ?PEM calculation. The error becomes quite large for ? approaching to the direction of PEM axis (±22.5°), when absolute spectral amplitude is used. The error increases with XELM but does not depend on ?ELM. When the ELM frequency is sufficiently lower than a critical ELM frequency that is given by inverse of an effective LPF time constant (?LPFLPF times the number of LPF stages), the error has its peak, the height of which is independent of fELM, soon after the ELM and vanishes between subsequent ELMs. However, when fELM is higher than the critical ELM frequency, errors induced by subsequent ELMs pile up and the error increases with fELM. In case of no pileup, the maximum error becomes larger for smaller ?LPF, because impact of ELM temporally concentrates in a shorter period just after the ELM. The error induced by ELMs is roughly estimated to be ?0.002° in a type-I ELMy H-mode JT-60U discharge, which is much smaller than other errors coming from calibrations (about 0.1–0.2°) and temporal fluctuation (less than about 0.05°), mainly since the background light induced by ELMs is weak compared to the beam emission XELM ?0.07 in JT-60U. However, MSE diagnostics experiencing large background light (XELM) should take this kind of error into account.

  20. Ionospheric effects on terrestrial communications :Working Group 3 overview

    Directory of Open Access Journals (Sweden)

    A. Bourdillon

    2004-06-01

    Full Text Available Telecommunications via ionospheric reflection of radio signals of ground-based transmitters are a traditional area. However, this technique is still in use in telecommunications, broadcasting, etc. Various problems have not yet been solved and some of them were studied in Working Group 3 (WG3. Structure of WG 3 and the terms of reference of its four working packages are described in the introductory paper by Zolesi and Cander (2004. Here we describe the main results achieved in COST 271 in the following areas: i large-scale fluctuations of planetary and gravity waves; ii development of a new type of HF channel simulator; iii geomagnetic storm effects on the F1-region ionosphere; iv the sporadic E-layer and spread-F phenomena; v the HF radio wave propagation over northerly paths; vi how to increase the bit rate in ionospheric radio links. In general, substantial progress was achieved but some problems remain open for future investigations.

  1. 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.

  2. Discovery of lake-effect clouds on Titan

    CERN Document Server

    Brown, M E; Roe, H G; CHen, C; Roberts, J; Brown, R H; Baines, K H; Clark, R N

    2008-01-01

    Images from instruments on Cassini as well as from telescopes on the ground reveal the presence of sporadic small-scale cloud activity in the cold late-winter north polar of Saturn's large moon Titan. These clouds lie underneath the previously discovered uniform polar cloud attributed to a quiescent ethane cloud at ~40 km and appear confined to the same latitudes as those of the largest known hydrocarbon lakes at the north pole of Titan. The physical properties of these clouds suggest that they are due to methane convection and condensation. Such convection has not been predicted for the cold winter pole, but can be caused by a process in many ways analogous to terrestrial lake-effect clouds. The lakes on Titan are a key connection between the surface and the meteorological cycle.

  3. 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.

  4. 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.

  5. 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

    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, Betta splendens. Males visually interacted for 1 day in a communication network of seven fish in tanks arranged in a hexagonal grid, while we recorded space use and signalling data. We then exchanged the positions of two males with different behavioural types and observed them interacting the following day. ‘Persistent' signallers were unaffected by the treatment, while ‘sporadic' signallers increased the time spent in the inner front part of their tank, from which they could observe but not interact with the neighbours. Social instability (i.e. number of changed neighbours) raised the signalling levels of individuals independently of their behavioural types. We discuss the relationship between information gathering in a communication network and network composition in terms of behavioural types of its members.

  6. 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.

  7. Field error and its effect on the plasma performance in TPE-RX, reversed-field pinch device

    International Nuclear Information System (INIS)

    The effects of field errors at the poloidal gap of the thick shell on the plasma performance and the wall-locking are intensively studied. The coil system of TPE-RX (major/minor radii, R/a = 1.72/0.45 m) has several features for cancelling the field errors at the thick shell gap and for controlling the equilibrium position of the plasma column. It is confirmed that these field error cancellation schemes work well for the normal operating conditions in TPE-RX. It is shown quantitatively that the global performance of the revised-field pinch operation is affected if the shell gap field error exceeds about 5% of the poloidal magnetic field. As expected, the probability of the mode to lock at the shell gap increases as the field error increases. (author)

  8. A Characterization of Sporadic Janko Group J1

    Directory of Open Access Journals (Sweden)

    Deqin Chen

    2013-09-01

    Full Text Available Let G be a group and &omega(G be the set of element orders of G. Let k? &omega(G and sk be the number of elements of order k in G. Let nse (G = {sk | k &omega(G}. In Khatami et al. (2011 and Liu (2012c the authors proved that L3(2 and L3(4 are unique determined by nse (G. In this study, we prove that if G is a group such that nse (G = nse (J1, then G ? J1.

  9. Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.

    Science.gov (United States)

    Leventer, Richard J; Jansen, Floor E; Mandelstam, Simone A; Ho, Alice; Mohamed, Ismail; Sarnat, Harvey B; Kato, Mitsuhiro; Fukasawa, Tatsuya; Saitsu, Hirotomo; Matsumoto, Naomichi; Itoh, Masayuki; Kalnins, Renate M; Chow, Chung W; Harvey, A Simon; Jackson, Graeme D; Crino, Peter B; Berkovic, Samuel F; Scheffer, Ingrid E

    2014-03-01

    Focal cortical dysplasia is a common cortical malformation and an important cause of epilepsy. There is evidence for shared molecular mechanisms underlying cortical dysplasia, ganglioglioma, hemimegalencephaly, and dysembryoplastic neuroepithelial tumor. However, there are no familial reports of typical cortical dysplasia or co-occurrence of cortical dysplasia and related lesions within the same pedigree. We report the clinical, imaging, and histologic features of six pedigrees with familial cortical dysplasia and related lesions. Twelve patients from six pedigrees were ascertained from pediatric and adult epilepsy centers, eleven of whom underwent epilepsy surgery. Pedigree data, clinical information, neuroimaging findings, and histopathologic features are presented. The families comprise brothers with focal cortical dysplasia, a male and his sister with focal cortical dysplasia, a female with focal cortical dysplasia and her brother with hemimegalencephaly, a female with focal cortical dysplasia and her female first cousin with ganglioglioma, a female with focal cortical dysplasia and her male cousin with dysembryoplastic neuroepithelial tumor, and a female and her nephew with focal cortical dysplasia. This series shows that focal cortical dysplasia can be familial and provides clinical evidence suggesting that cortical dysplasia, hemimegalencephaly, ganglioglioma, and dysembryoplastic neuroepithelial tumors may share common genetic determinants. PMID:24502525

  10. Copy number abnormalities in sporadic canine colorectal cancers

    OpenAIRE

    Tang, Jie; Le, Shoshona; Sun, Liang; Yan, Xiuzhen; Zhang, Mucheng; Macleod, Jennifer; Leroy, Bruce; Northrup, Nicole; Ellis, Angela; Yeatman, Timothy J.; Liang, Yanchun; Zwick, Michael E.; Zhao, Shaying

    2010-01-01

    Human colorectal cancer (CRC) is one of the better-understood systems for studying the genetics of cancer initiation and progression. To develop a cross-species comparison strategy for identifying CRC causative gene or genomic alterations, we performed array comparative genomic hybridization (aCGH) to investigate copy number abnormalities (CNAs), one of the most prominent lesion types reported for human CRCs, in 10 spontaneously occurring canine CRCs. The results revealed for the first time a...

  11. Sporadic Obstructive Hydrocephalus in Aqp4 Null Mice

    OpenAIRE

    Feng, Xuechao; Papadopoulos, Marios C; LIU, JUN; Li, LiHua; Zhang, Di; Zhang, Hongguo; VERKMAN, A. S.; Ma, Tonghui

    2009-01-01

    Aquaporin-4 (Aqp4) is a water transport protein expressed in glia and ependymocytes in brain. We report here the unexpected occurrence of severe obstructive hydrocephalus in a random subset of Aqp4 knockout mice. Of 612 Aqp4 knockout mice produced by heterozygote–heterozygote or knockout–knockout breedings, 9.6% of offspring manifested progressive encephalomegaly. Encephalomegaly was never seen in wild-type or Aqp4 heterozygous mice. Examination of the subset encephalomegalic mice revealed ma...

  12. Sporadic Obstructive Hydrocephalus in Aqp4 Null Mice

    Science.gov (United States)

    Feng, Xuechao; Papadopoulos, Marios C.; Liu, Jun; Li, Lihua; Zhang, Di; Zhang, Hongguo; Verkman, A. S.; Ma, Tonghui

    2013-01-01

    Aquaporin-4 (Aqp4) is a water transport protein expressed in glia and ependymocytes in brain. We report here the unexpected occurrence of severe obstructive hydrocephalus in a random subset of Aqp4 knockout mice. Of 612 Aqp4 knockout mice produced by heterozygote–heterozygote or knockout–knockout breedings, 9.6% of offspring manifested progressive encephalomegaly. Encephalomegaly was never seen in wild-type or Aqp4 heterozygous mice. Examination of the subset encephalomegalic mice revealed marked triventricular hydrocephalus (lateral ventricle size ~500 mm3), elevated intracranial pressure (19 ± 3 vs. 6.1 ± 0.6 mm Hg), and death by age 6 weeks, with a median survival of 28 days. Intraventricular dye injection studies revealed total obstruction of the cerebral aqueduct. Evans blue extravasation studies indicated an intact blood–brain barrier in the hydrocephalic mice. Brain histology revealed reduced ventricular size and ependymocyte disorganization in some nonhydrocephalic Aqp4 null mice. Our studies establish Aqp4 deletion as a predisposing factor for the development of congenital obstructive hydrocephalus in mice. We suggest that AQP4 polymorphisms might also contribute to the development of aqueduct stenosis in humans. PMID:18951529

  13. Experimental mastering of nonlinear dynamics in circuits by sporadic pulses

    International Nuclear Information System (INIS)

    We present some experimental evidence of mastering chaos (control and anticontrol) in nonlinear circuits using a simple impulsive method which does not require any knowledge about the system's dynamics. The method works by introducing instantaneous pulses in some system variables-in this paper the pulses are applied to a capacitor voltage-and, hence, is an additional plug-in that does not modify the system itself. When varying the mastering parameters (amplitude and frequency of pulses) we obtain a bifurcation structure similar to the one obtained when varying some system's parameters. Therefore, this device allows us investigating the dynamics of a given circuit providing us with a versatile component for performing both control or anticontrol of chaos. In particular, we show how a double-scroll chaotic system is stabilized in period three, single-scroll, period-4, period-2, period-1, fixed point, following an inverse bifurcation route as a function of the pulses amplitude (chaos control). It is also shown how a periodic Chua's circuit is driven to chaotic behavior (chaos anticontrol)

  14. 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,…

  15. 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.

  16. 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 gp>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 ?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.

  17. 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.

  18. Dynamical Model for the Zodiacal Cloud and Sporadic Meteors

    CERN Document Server

    Nesvorny, David; 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 meteor radar observations. We find that the Jupiter Family Comets (JFCs) are the main source of the prominent concentrations of meteors arriving to 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 (>10...

  19. 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.

  20. The role of IKKalpha in sporadic and familial colorectal tumorigenesis

    OpenAIRE

    Göktuna, Serkan Ismail

    2010-01-01

    The role of IKK? in colorectal tumorigenesis was investigated by the use of chemical and genetic mouse models of colorectal tumors. A distinct phenotype of tumor growth retardation was observed in all models with IKK? inactivation mutants. Molecular analysis of reduced tumor growth in IKK? mutants resulted in a clear IFN? upregulation due to myeloid cells recruitment by epithelial secreted factors and autocrine myeloid cell activation by intrinsic factors like MCP-1. NF-?B activity was found ...

  1. Lipoprotein Particle Profiles Mark Familial and Sporadic Human Longevity

    OpenAIRE

    Heijmans, Bastiaan T.; Beekman, Marian; Houwing-duistermaat, Jeanine J.; Cobain, Mark R.; Powell, Jonathan; Blauw, Gerard Jan; Ouderaa, Frans; Westendorp, Rudi G. J.; Slagboom, P. Eline

    2006-01-01

    Offspring of families from the Leiden Longevity Study had larger and fewer LDL particles than same-aged partners, suggesting that even in middle age LDL particle profiles are associated with longevity.

  2. 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

  3. Perfil clínico y cognitivo de la atrofia cortical posterior y sus diferencias con la enfermedad de Alzheimer esporádica tardía y familiar precoz / Clinical and cognitive profile of posterior cortical atrophy and its differences with late sporadic and early familial alzheimer's disease

    Scientific Electronic Library Online (English)

    Julián, Carvajal Castrillón; Daniel Camilo, Aguirre; Francisco, Lopera.

    2010-06-01

    Full Text Available RESUMEN Introducción. La atrofia cortical posterior (ACP) es una demencia focal que se manifiesta al inicio con trastornos cognitivos posteriores, principalmente alteración visuoperceptual por el daño en la corteza occipitoparietal, lo que permite en la clínica diferenciarla de la enfermedad de Alzh [...] eimer (EA). Objetivos. Analizar y comparar el rendimiento cognitivo de pacientes con ACP y con EA. Materiales y métodos. La muestra estuvo formada por los siguientes grupos: cuatro pacientes con ACP, siete con EA familiar precoz, nueve con EA esporádica tardía y cuatro controles sanos. A cada participante se le aplicó un protocolo de evaluación neuropsicológica para valorar procesos cognitivos y funcionalidad. La comparación entre grupos se realizó utilizando la prueba no paramétrica U de Mann-Whitney. Resultados. Los pacientes con ACP obtuvieron puntuaciones significativamente inferiores en praxias constructivas e ideacionales, lectura, cálculo y visuopercepción, respecto a ambos grupos de EA. Por el contrario, en memoria verbal, fluidez semántica y función ejecutiva, el grupo con ACP presentó mejor desempeño. Conclusión. Al inicio del proceso neurodegenerativo la clínica de la ACP se diferencia de la de EA. La ACP es una demencia con características sintomatológicas propias y no sólo una variante de la EA, aunque ambas compartan el mismo sustrato histopatológico. Abstract in english SUMMARY Introduction. Posterior cortical atrophy (PCA) is a focal dementia manifested by posterior cognitive disorders, initially visuoperceptual alterations due to damage in occipito-parietal cortex, which permits PCA to be clinically differentiated of Alzheimer's Disease (AD). Objetive. To analize [...] and to compare cognitive performance of patients with PCA and with AD. Materials and methods. Sample was conformed by the following groups: four patients with PCA, seven with early familial AD, nine with late sporadic AD and four healthy controls. A neuropsychological examination battery was administrated to each participant in order to assess cognitive processes and functionality. Between-groups comparisons were made by using U Mann-Whitney non parametric test. Results. Patients with PCA had significantly lower scores in constructional and ideational praxias, reading, calculation and visuoperception, compared to both AD groups. In contrast, PCA group showed better performance in verbal memory, semantic fluency and executive function. Conclusion. At the beginning of neurodegenerative process, PCA symptomatology is clearly different of that presented in AD. PCA is a dementia with particular symptomatic characteristics and not only a variant of AD, even if both share the same hystopathological substrate.

  4. 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.

  5. 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

  6. 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

  7. Effect of random phase errors on coherent beam combining based on liquid crystal phased array

    Science.gov (United States)

    Chen, Jian; Kong, Lingjiang; Xiao, Feng; Yang, Zhenming

    2015-04-01

    The effect of random phase errors on coherent beam combining based on liquid crystal phased array is studied. Utilizing the Fraunhofer propagation principle and probability theory, the analytical expressions of the far-field intensity distribution functions of the output beam are derived. According to these expressions, it can be concluded that as the phase errors increase, the peak intensity of the combined beam in the far-field decreases, the main lobe width widens and the error of deflection angle becomes greater. Considering the influence of random phase errors on the three parameters, a threshold of phase control precision can be designated. When the phase errors are less than the threshold, the performance degradation of the CBC system caused by the phase errors can be accepted. The computer simulations illustrate that the conclusions obtained from analytical expressions are reasonable. In the simulation parameters, the threshold of the phase control precision is ? / 20. The results in this paper can be employed to research methods to reduce the adverse effects of random phase errors and can also be used to determine the phase control precision when using phase-locking algorithms to lock the phase of the beams to be combined in the CBC system.

  8. Effects of mid-latitude ionosphere observed from ground-based ionosonde data obtained at Alma-Ata station during strong geomagnetic storms

    International Nuclear Information System (INIS)

    The ionospheric effects of fourteen great geomagnetic storms occurred in the 1986-2005 time period observed over Alma-Ata (43.25N, 76.92E) were studied experimentally using ground-based ionosonde. The observations showed a number of unusual (for the Alma-Ata location) ionospheric phenomena during the active phase of geomagnetic storms, along with a negative phase in the ionospheric F2-layer disturbance an anomalous formation of the E, E2, and F1 layers at nighttime, and the appearance of aurora-type sporadic E layers were found. Processes of interaction of energetic neutrals with the upper atmosphere modeled by Bauske et al. (1997) for magnetically distributed condition seem to explain the phenomena of ionization of F1 and E region at night. (author)

  9. 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

    2012-11-01

    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:22967820

  10. 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

  11. Habitat Fragmentation, Variable Edge Effects, and the Landscape-Divergence Hypothesis

    Science.gov (United States)

    Laurance, William F.; Nascimento, Henrique E. M.; Laurance, Susan G.; Andrade, Ana; Ewers, Robert M.; Harms, Kyle E.; Luizão, Regina C. C.; Ribeiro, José E.

    2007-01-01

    Edge effects are major drivers of change in many fragmented landscapes, but are often highly variable in space and time. Here we assess variability in edge effects altering Amazon forest dynamics, plant community composition, invading species, and carbon storage, in the world's largest and longest-running experimental study of habitat fragmentation. Despite detailed knowledge of local landscape conditions, spatial variability in edge effects was only partially foreseeable: relatively predictable effects were caused by the differing proximity of plots to forest edge and varying matrix vegetation, but windstorms generated much random variability. Temporal variability in edge phenomena was also only partially predictable: forest dynamics varied somewhat with fragment age, but also fluctuated markedly over time, evidently because of sporadic droughts and windstorms. Given the acute sensitivity of habitat fragments to local landscape and weather dynamics, we predict that fragments within the same landscape will tend to converge in species composition, whereas those in different landscapes will diverge in composition. This ‘landscape-divergence hypothesis’, if generally valid, will have key implications for biodiversity-conservation strategies and for understanding the dynamics of fragmented ecosystems. PMID:17925865

  12. Enterococcus faecalis Induces A neuploidy and Tetraploidy in Colonic Epithelial Cells through a Bystander Effect

    Science.gov (United States)

    Wang, Xingmin; Allen, Toby D.; May, Randal J.; Lightfoot, Stanley; Houchen, Courtney W.; Huycke, Mark M.

    2008-01-01

    Intestinal commensals are potential important contributors to the etiology of sporadic colorectal cancer but mechanisms by which bacteria can initiate tumors remain uncertain. Herein we describe mechanisms that link Enterococcus faecalis, a bacterium known to produce extracellular superoxide, to the acute induction of chromosomal instability. Immortalized human and non-transformed murine colonic epithelial cells, along with a mouse colonic ligation model, were used to assess the effect of E. faecalis on genomic DNA stability and damage. We found that this human intestinal commensal generated aneuploidy, tetraploidy, and ?H2AX foci in HCT116, RKO, and YAMC cells. In addition, direct exposure of E. faecalis to these cells induced a G2 cell cycle arrest. Similar observations were noted by exposuring cells to E. faecalis-infected macrophages in a dual-chamber co-culture system for detecting bystander effects. Manganese superoxide dismutase, catalase, and tocopherols attenuated, caffeine and inhibitor of glutathione synthase exacerbated, aneugenic and cyclomodulatory effects and linked the redox-active phenotype of this intestinal commensal to potentially transforming events. These findings provide novel insights into mechanisms by which E. faecalis and intestinal commensals can contribute to cellular transformation and tumorigenesis. PMID:19047172

  13. In vitro streptozotocin model for modeling Alzheimer-like changes: effect on amyloid precursor protein secretases and glycogen synthase kinase-3.

    Science.gov (United States)

    Plaschke, Konstanze; Kopitz, Jürgen

    2015-04-01

    There is accumulating evidence for a pathogenetic link between sporadic Alzheimer's disease (AD) and diabetes mellitus (DM). At subdiabetogenic doses, the cerebral administration of the diabetogenic substance streptozotocin (STZ) induces an insulin-resistant brain state (IRBS). The aim of the present pilot study was to investigate the effect of STZ on Alzheimer-like characteristics such as amyloid precursor protein (APP) cleavage secretases, betaA4 fragment, and glycogen synthase kinase (GSK) in vitro. Different STZ concentrations (0-5 mM) and incubation intervals (0-48 h) were tested to find appropriate cell culture conditions for further biochemical analyses in human neuroblastoma cells (SK-N-MC). Lactate dehydrogenase (LDH) was measured spectrophotometrically. Intracellular ATP was determined using bioluminescent luciferase assay. Secretase activity (alpha, beta, and gamma) was measured by employing commercial fluorometric secretase activity assay kits, betaA4 fragment by immunoprecipitation. Glycogen synthase kinase-3alpha/beta (total and phospho-GSK) content was assayed by ELISA technique. In vitro STZ administration (1 mM) induced a significant reduction in intracellular ATP concentration without pronounced cell death after 24 and 48 h as measured by LDH. Under these experimental conditions, a significant increase in beta-secretase and a significant drop in alpha-secretase were obtained, whereas gamma-secretase was not changed significantly. Simultaneously, the betaA4 concentration was increased by about threefold. Furthermore, STZ significantly increased total GSK and markedly decreased phospho-GSK. A direct link between STZ, intracellular ATP deficit, and Alzheimer-related enzymes was shown in this in vitro pilot study. Thus, these results support the hypothesis that sporadic AD is being recognized as an IRBS, which can be modulated by in vitro STZ model. Continuing investigations relating pathogenetic mechanisms and AD-like hallmarks are necessary to modulate different cascades of the IRBS using in vitro models. PMID:25283498

  14. Relationships among morphine metabolism, pain and side effects during long-term treatment : an update

    DEFF Research Database (Denmark)

    Andersen, Gertrud; Christrup, Lona Louring

    2003-01-01

    The two metabolites of morphine, morphine-3-glucuronide (M3G) and morphine-6-glucuronide (M6G), have been studied intensively in animals and humans during the past 30 years in order to elucidate their precise action and possible contribution to the desired effects and side effects seen after morphine administration. M3G and M6G are formed by morphine glucuronidation, mainly in the liver, and are excreted by the kidneys. The metabolites are found in the cerebrospinal fluid after single as well as multiple doses of morphine. M6G binds to opioid receptors, and animal studies have demonstrated that M6G may be a more potent analgesic than morphine. Results from human studies regarding the analgesic effect of M6G are not unanimous. The potency ratio between systemic M6G and morphine in humans has not been settled, but is probably lower than previously assumed. Hitherto, only a few studies have found evidence for a contributory effect of M6G to the overall effects observed after morphine administration. Several studies have demonstrated that administration of M6G is accompanied by fewer and a milder degree of opioid-like side effects than observed after morphine administration, but most of the studies have used lower doses of M6G than of morphine. M3G displays very low affinity for opioid receptors and has no analgesic activity. Animal studies have shown that M3G may antagonize the analgesic effect of morphine and M6G, but no human studies have demonstrated this. M3G has also been connected to certain neurotoxic symptoms, such as hyperalgesia, allodynia and myoclonus, which have been observed after administration of M3G or high doses of morphine in animals. The symptoms have been reported sporadically in humans treated primarily with high doses of morphine, but the role of M3G in eliciting the symptoms is not fully elucidated.

  15. Effectiveness of exceptional rainstorms on a small Mediterranean basin

    Science.gov (United States)

    Grodek, Tamir; Jacoby, Yael; Morin, Efrat; Katz, Oded

    2012-07-01

    A comprehensive investigation of rainstorms and their consequent impacts on landscape evolution is geomorphologically important, but only scant information may be available on exceptional events, because parameters on synoptic conditions, rainstorm, landforms and hydrology for such events may be incomparable with previous knowledge. We studied an exceptional storm on April 2, 2006, in the Ramot Menashe region, Israel. Our investigation of rainfall, landslides, debris flows and channel suggests the effectiveness of such an event on the development of basin-scale morphology. The storm caused damage and casualties although it covered relatively narrow strips. Neither direct rainfall nor runoff measurements exist for the most severely affected area of Ramot Menashe, but the geomorphologic evidence combined with high-resolution meteorological radar data provides the basic understanding of the processes and hazardous conditions which prevailed at the time. In the storm core, based on estimation from meteorological radar data, 263 mm of rain fell within 3 h with a maximum intensity of 220 mm h- 1 for 10 min, triggering both sporadic landslides at the soil/bedrock contact on the upper slopes and widespread landslides at the fractured/massive bedrock contact on the lower slopes. The 1st order channels on the alternation of chalk and marl also underwent erosion, and the produced sediment deposited on alluvial fans at the confluence with the main channel. The specific peak discharges for catchment size of 0.3-10 km2 were 11 to 73 m3 s- 1 km- 2, higher than any recorded floods in the Mediterranean climatic region of Israel. The effectiveness of the flood for geomorphic work, represented by shear stress and stream power per unit boundary area reached 87-398 N m- 2 and 212-2134 W m- 2, respectively. This kind of analysis can be applied to hazard prediction in other areas under similar geomorphological conditions.

  16. The Effects of Polluted River Water to the Riverside Groundwater, Case in Niger River in Koulikoro

    Directory of Open Access Journals (Sweden)

    Drissa Traore

    2014-08-01

    Full Text Available Ground water demand is increasing in many African nations due to a number of factors. The growth of population, climate change, increase pollution of rivers, and insufficient number of purifying stations and waste water treatment (or almost nonexistent have pushed to the water authorities for exploitation of underground water. These underground /groundwater have a relationship with surface water. Then what can be the effects of polluted River to its riverside groundwater? To explore the answer of this question and for the prevention sustainable and a better integrated management of water resources, we will do in-depth study on “the relationship between river water and riverside ground”. In Koulikoro region the results of this research show that Surface waters have poor bacteriological quality, the amount of total coliforms is very high, and accordingly Niger River’s waters are not allowed for consumption without treatment. However the river water can be safely used for laundry, bath, sports and recreation. Generally the Groundwater quality is good despite increased salinity has been observed sporadically. We found also that for the entire region of Koulikoro the average infiltration rate is less than 19.8% of the gross rainfall.

  17. Effects of nonsteroidal anti-inflammatory drugs on amyloid-beta pathology in mouse skeletal muscle.

    Science.gov (United States)

    Beckett, Tina L; Niedowicz, Dana M; Studzinski, Christa M; Weidner, Adam M; Webb, Robin L; Holler, Christopher J; Ahmed, Rachel R; LeVine, Harry; Murphy, M Paul

    2010-09-01

    Sporadic inclusion body myositis (sIBM) is a common age-related inflammatory myopathy characterized by the presence of intracellular inclusions that contain the amyloid-beta (Abeta) peptide, a derivative of the amyloid precursor protein (APP). Abeta is believed to cause Alzheimer's disease (AD), suggesting that a link may exist between the two diseases. If AD and sIBM are linked, then treatments that lower Abeta in brain may prove useful for sIBM. To test this hypothesis, transgenic mice that overexpress APP in skeletal muscle were treated for 6 months with a variety of nonsteroidal anti-inflammatory drugs (NSAIDs; naproxen, ibuprofen, carprofen or R-flurbiprofen), a subset of which reduce Abeta in brain and cultured cells. Only ibuprofen lowered Abeta in muscle, and this was not accompanied by corresponding improvements in phenotype. These results indicate that the effects of NSAIDs in the brain may be different from other tissues and that Abeta alone cannot account for skeletal muscle dysfunction in these mice. PMID:20493261

  18. Effects of Nonsteroidal Anti-Inflammatory Drugs on Amyloid-?Pathology in Mouse Skeletal Muscle

    Science.gov (United States)

    Beckett, Tina L.; Niedowicz, Dana M.; Studzinski, Christa M.; Weidner, Adam M.; Webb, Robin L.; Holler, Christopher J.; Ahmed, Rachel R.; LeVine, Harry; Murphy, M. Paul

    2010-01-01

    Sporadic inclusion body myositis (sIBM) is a common age-related inflammatory myopathy characterized by the presence of intracellular inclusions that contain the amyloid-? (A?) peptide, a derivative of the amyloid precursor protein (APP). A? is believed to cause Alzheimer's disease (AD), suggesting that a link may exist between the two diseases. If AD and sIBM are linked, then treatments that lower A? in brain may prove useful for sIBM. To test this hypothesis, transgenic mice that over express APP in skeletal muscle were treated for 6 months with a variety of nonsteroidal anti-inflammatory drugs (NSAIDs; naproxen, ibuprofen, carprofen or R-flurbiprofen), a subset of which reduce A? in brain and cultured cells. Only ibuprofen lowered A? in muscle, and this was not accompanied by corresponding improvements in phenotype. These results indicate that the effects of NSAIDs in the brain may be different from other tissues, and that A? alone cannot account for skeletal muscle dysfunction in these mice. PMID:20493261

  19. 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.

  20. 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.

  1. 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.

  2. The effect of fungicides on yeast communities associated with grape berries.

    Science.gov (United States)

    Cadez, Neza; Zupan, Jure; Raspor, Peter

    2010-08-01

    The influence of three commonly used fungicides (iprodione, pyrimethanil and fludioxonil plus cyprodinil) on the density and diversity of yeast populations present on grape berries was evaluated. At the time of harvest, the fungicide residues on grapes were below the maximum permitted levels. In general, larger yeast counts were found on the treated grapes than on the control samples. Among 23 species identified, Cryptococcus magnus, Rhodotorula glutinis and Sporidiobolus pararoseus dominated on sound grape berries. The results showed that the tested fungicides had only a minor impact on the composition of grape berry communities in comparison with the effect of weather conditions and the mode of grape berry sampling. Halo assays using filter discs loaded with fungicides were used as in vitro tests of the sensitivity of grape berry isolates. The fungicide containing pyrimethanil suppressed the growth of all basidiomycetous yeast species, while the sporadically occurring fermentative yeasts were unaffected. Fungicides with fludioxonil plus cyprodinil and iprodione as active substances showed specificity for certain species. Our results suggest that after the safety interval, the presence of fungicides has a minor impact on the composition of grape berry communities, although at the time of fungicide applications, the yeast species composition changes. PMID:20491940

  3. Effects of irradiating peats on their ability to extract BTEX and cadmium from contaminated water

    International Nuclear Information System (INIS)

    This paper reports on research designed to investigate the effects of increasing amounts of gamma radiation on the abilities of peats with different chemical, physical, and microbiological properties to extract gasoline?derived contaminants (BTEX's) and cadmium from water. Unaltered and irradiated peats were slurried under controlled conditions in aqueous solutions of gasoline and of cadmium. All peat types were also examined by various analytical methods for physical, chemical, or microbiological changes that might have occurred due to the radiation. Radiation was found to increase BTEX sorption capacity by 10–65%, depending on the peat type. A maximum BTEX sorption capacity was reached somewhere between 4.5 and 6.5 megarads of radiation. The more fibric peats tended to reach their BTEX sorption maximum more quickly than the more sapric peats. In contrast to the hydrocarbons, cadmium sorption capacity tended to be decreased by radiation, for the more fibric peats (by as much as 80%); while, the more sapric peat's sorption capacity became sporadic (i.e. tended to fluctuate with time but showed a slight increase in adsorption by the end of the test). Microbial enumeration analyses showed that the number of microorganisms living within the peats was greatly reduced as the dosage of radiation was increased. Additionally, pyrolysis GC/MS results showed evidence of significant chemical changes in the peats due to radiation; although, these increases s in pyrolysis products were not consistent from one peat type to another. (author)

  4. The effect of weather variables on the flight activity of horseflies (Diptera: Tabanidae) in the continental climate of Hungary.

    Science.gov (United States)

    Herczeg, Tamás; Száz, Dénes; Blahó, Miklós; Barta, András; Gyurkovszky, Mónika; Farkas, Róbert; Horváth, Gábor

    2015-03-01

    Although the tabanid species and populations occurring in eastern central Europe (Carpathian Basin) are thoroughly studied, there are only sporadic data about the influence of weather conditions on the abundance and activity of horseflies. To fill in this lack, in Hungary, we performed a 3-month summer survey of horsefly catches registering the weather parameters. Using common canopy traps and polarization liquid traps, we found the following: (i) rainfall, air temperature, and sunshine were the three most important factors influencing the trapping number of tabanids. (ii) The effect of relative air humidity H on tabanids was indirect through the air temperature T: H ? 35 % (corresponding to T ? 32 °C) was optimal for tabanid trapping, and tabanids were not captured for H ? 80 % (corresponding to T ? 18 °C). (iii) A fast decrease in the air pressure enhanced the trapping number of both water-seeking and host-seeking horseflies. (iv) Wind velocities larger than 10 km/h reduced drastically the number of trapped tabanids. Our data presented here may serve as a reference for further investigations of the effect of climate change on tabanids in Europe. PMID:25563609

  5. Synergistic effects of environmental risk factors and gene mutations in Parkinson’s disease accelerate age-related neurodegeneration

    Science.gov (United States)

    Peng, Jun; Oo, May Lin; Andersen, Julie K.

    2013-01-01

    As Parkinson’s disease appears to be a multifactoral disorder, the use of animal models to investigate combined effects of genetic and environmental risk factors are of great importance especially in the context of aging which is the single major risk factor for the disorder. Here, we assessed the combined effects of neonatal iron feeding and environmental paraquat exposure on age-related nigrostriatal degeneration in transgenic mice expressing the A53T familial mutant form of human ?-synuclein within these neurons. We report here that A53T ?-synuclein mice exhibit greater susceptibility to paraquat. Increased oral intake of iron in the neonatal period leads to a progressive age-related enhancement of dopaminergic neurodegeneration associated with paraquat neurotoxicity. Furthermore, neurodegeneration associated with these combined genetic and environmental risk factors could be attenuated by systemic treatment with the bioavailable antioxidant compound EUK-189. These data suggest that environmental factors previously identified as contributors to neurodegeneration associated with sporadic Parkinson’s disease may also be candidates for observed variations in symptoms and disease progression in monogenic forms and that this may mechanistically involve increased levels of oxidatively-induced post-translational nitration of ?-synuclein. PMID:21039522

  6. Isotope effects

    International Nuclear Information System (INIS)

    A comprehensive study of isotope effects is presented in this chapter of the textbook on nuclear chemistry for chemists. The subsections are: Mechanical effects, Isotope effects of the internal energy of the molecules, Helmholtz function and partition function, Spectroscopic isotope effects, Isotope effects in the chemical equilibrium, Isotope effects on phase equilibria, Kinetic isotope effects, Isotope effects on some other physicochemical properties, Biochemical and biological isotope effects. Finally, variations of stable isotope ratios in nature are briefly discussed and some applications in geochronology, geothermometry, hydrology and meteorology are reported

  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. 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

  9. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

    Science.gov (United States)

    Goldberg, Y P; Kremer, B; Andrew, S E; Theilmann, J; Graham, R K; Squitieri, F; Telenius, H; Adam, S; Sajoo, A; Starr, E

    1993-10-01

    Huntington's disease (HD) is associated with expansion of a CAG repeat in a novel gene. We have assessed 21 sporadic cases of HD to investigate sequential events underlying HD. We show the existence of an intermediate allele (IA) in parental alleles of 30-38 CAG repeats in the HD gene which is greater than usually seen in the general population but below the range seen in patients with HD. These IAs are meiotically unstable and in the sporadic cases, expand to the full mutation associated with the phenotype of HD. This expansion has been shown to occur only during transmission through the male germline and is associated with advanced paternal age. These findings suggest that new mutations for HD are more frequent than prior estimates and indicate a previously unrecognized risk of inheriting HD to siblings of sporadic cases of HD and their children. PMID:8252043

  10. Effect of rain gauge density over the accuracy of rainfall: a case study over Bangalore, India.

    Science.gov (United States)

    Mishra, Anoop Kumar

    2013-12-01

    Rainfall is an extremely variable parameter in both space and time. Rain gauge density is very crucial in order to quantify the rainfall amount over a region. The level of rainfall accuracy is highly dependent on density and distribution of rain gauge stations over a region. Indian Space Research Organisation (ISRO) have installed a number of Automatic Weather Station (AWS) rain gauges over Indian region to study rainfall. In this paper, the effect of rain gauge density over daily accumulated rainfall is analyzed using ISRO AWS gauge observations. A region of 50 km?×?50 km box over southern part of Indian region (Bangalore) with good density of rain gauges is identified for this purpose. Rain gauge numbers are varied from 1-8 in 50 km box to study the variation in the daily accumulated rainfall. Rainfall rates from the neighbouring stations are also compared in this study. Change in the rainfall as a function of gauge spacing is studied. Use of gauge calibrated satellite observations to fill the gauge station value is also studied. It is found that correlation coefficients (CC) decrease from 82% to 21% as gauge spacing increases from 5 km to 40 km while root mean square error (RMSE) increases from 8.29 mm to 51.27 mm with increase in gauge spacing from 5 km to 40 km. Considering 8 rain gauges as a standard representative of rainfall over the region, absolute error increases from 15% to 64% as gauge numbers are decreased from 7 to 1. Small errors are reported while considering 4 to 7 rain gauges to represent 50 km area. However, reduction to 3 or less rain gauges resulted in significant error. It is also observed that use of gauge calibrated satellite observations significantly improved the rainfall estimation over the region with very few rain gauge observations. PMID:23888280

  11. 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).

  12. Effect of hesperidin on neurobehavioral, neuroinflammation, oxidative stress and lipid alteration in intracerebroventricular streptozotocin induced cognitive impairment in mice.

    Science.gov (United States)

    Javed, Hayate; Vaibhav, Kumar; Ahmed, M Ejaz; Khan, Andleeb; Tabassum, Rizwana; Islam, Farah; Safhi, Mohammed M; Islam, Fakhrul

    2015-01-15

    Recent attention is given to the influence of dietary supplementation on health and mental well-being. Oxidative stress is associated with many diseases including neurodegenerative disorders. Dietary flavonoids exert chemopreventive and neuroprotective effects and comprise the most common group of plant polyphenols that provide much of the flavour and colour of the vegetables and fruits. Hesperidin is a flavanone glycoside found abundantly in citrus fruits, has been reported to have antioxidant, hypolipidaemic, analgesic and anti-hypertensive activity. Pretreatment of hesperidin (100 and 200mg/kg body weight orally once daily for 15 days) to Swiss male albino mice has prevented the cognitive impairment. The cognitive impairment was developed by giving single intracerebroventricular-streptozotocin (ICV-STZ) injection (2.57 mg/kg body weight each side) bilaterally. Hesperidin pretreatment improved memory consolidation process as tested by Morris water maze possibly through modulation of acetylcholine esterase activity (AChE). Moreover, hesperidin attenuated the depleted content of reduced glutathione (GSH) and elevated level of thiobarbituric acid reactive substances (TBARS) and also augmented lipid alteration significantly following ICV-STZ injection. We also demonstrated that the flavonoid hesperidin modulates neuronal cell death by inhibiting the overexpression of inflammatory markers like nuclear factor ?B, inducible nitric oxide synthase, cyclooxygenase-2 and glial fibrillary acidic protein positive astrocytes. The results from the present study open the possibility of using flavonoids for potential new therapeutic strategies for sporadic dementia of Alzheimer's disease. PMID:25434716

  13. 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.

  14. Partnering in research: a national research trial exemplifying effective collaboration with American Indian Nations and the Indian Health Service.

    Science.gov (United States)

    Chadwick, Jennifer Q; Copeland, Kenneth C; Daniel, Mary R; Erb-Alvarez, Julie A; Felton, Beverly A; Khan, Sohail I; Saunkeah, Bobby R; Wharton, David F; Payan, Marisa L

    2014-12-15

    Despite the fact that numerous major public health problems have plagued American Indian communities for generations, American Indian participation in health research traditionally has been sporadic in many parts of the United States. In 2002, the University of Oklahoma Health Sciences Center (Oklahoma City, Oklahoma) and 5 Oklahoma American Indian research review boards (Oklahoma City Area Indian Health Service, Absentee Shawnee Tribe, Cherokee Nation, Chickasaw Nation, and Choctaw Nation) agreed to participate collectively in a national research trial, the Treatment Options for Type 2 Diabetes in Adolescence and Youth (TODAY) Study. During that process, numerous lessons were learned and processes developed that strengthened the partnerships and facilitated the research. Formal Memoranda of Agreement addressed issues related to community collaboration, venue, tribal authority, preferential hiring of American Indians, and indemnification. The agreements aided in uniting sovereign nations, the Indian Health Service, academics, and public health officials to conduct responsible and ethical research. For more than 10 years, this unique partnership has functioned effectively in recruiting and retaining American Indian participants, respecting cultural differences, and maintaining tribal autonomy through prereview of all study publications and local institutional review board review of all processes. The lessons learned may be of value to investigators conducting future research with American Indian communities. PMID:25389367

  15. 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).

  16. Doppler Effect

    Science.gov (United States)

    Mrs. Brown

    2010-10-26

    Doppler effect followed from water waves to sound waves to light waves. Red shift of the universe is also explored. What is doppler effect? It is the change in frequency of a wave for an observer moving relative to the source of the wave. What does that mean? Watch this: moving doppler effect video What does the doppler effect look like in a stationary and moving object? dooppler effect views What does doppler effect have to do with stars and galaxies??? View the following ...

  17. Effects of the duper mutation on circadian responses to light.

    Science.gov (United States)

    Krug, Stefanie; McKinley Brewer, Judy; Bois, Alexandre S; Bittman, Eric L

    2011-08-01

    The circadian mutation duper in Syrian hamsters shortens the free-running circadian period (?(DD)) by 2 hours when expressed on a tau mutant (?(ss)) background and by 1 hour on a wild-type background. We have examined the effects of this mutation on phase response curves and entrainment. In contrast to wild types, duper hamsters entrained to 14L:10D with a positive phase angle. Super duper hamsters (expressing duper on a ?(ss) background) showed weak entrainment, while ?(ss) animals either completely failed to entrain or showed sporadic entrainment with episodes of relative coordination. As previously reported, wild-type and ?(ss) hamsters show low amplitude resetting in response to 15-minute light pulses after short-term (10 days) exposure to DD. In contrast, super duper hamsters show high amplitude resetting. This effect is attributable to the duper allele, as hamsters carrying duper on a wild-type background also show large phase shifts. Duper mutants that were born and raised in DD also showed high amplitude resetting in response to 15-minute light pulses, indicating that the effect of the mutation on PRC amplitude is not an aftereffect of entrainment to 14L:10D. Hamsters that are heterozygous for duper do not show amplified resetting curves, indicating that for this property, as for determination of free-running period, the mutant allele is recessive. In a modified Aschoff type II protocol, super duper and duper hamsters show large phase shifts as soon as the second day of DD. Despite the amplification of the PRC in super duper hamsters, the induction of Period1 gene expression in the SCN by light is no greater in these mutants than in wild-type animals. Period2 expression in the SCN did not differ between super duper and wild-type hamsters exposed to light at CT15, but albumin site D-binding protein (Dbp) mRNA showed higher basal levels and greater light induction in the SCN of super duper compared to wild-type animals. These results indicate that the duper mutation alters the amplitude of the circadian oscillator and further distinguish it from the tau mutation. PMID:21775288

  18. Chemotherapy Effects

    Science.gov (United States)

    ... saved articles window. My Saved Articles » My ACS » Chemotherapy Side Effects Chemotherapy drugs are powerful medicines that can cause side ... on the side effects most commonly caused by chemotherapy, this is a good place to start. Managing ...

  19. Greenhouse Effect

    Science.gov (United States)

    Connecticut Energy Education

    This activity is a greenhouse-effect-in-a-bottle experiment. The lesson includes readings from NEED.org and an inquiry lab measuring the effect of carbon dioxide and temperature change in an enclosed environment.

  20. Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting.

    OpenAIRE

    Fontaine, B; Rouleau, G A; Seizinger, B; Jewell, A F; Hanson, M. P.; Martuza, R L; Gusella, J.F.

    1990-01-01

    Inactivation of tumor suppressor genes can occur either by mutation at the gene locus or by loss of part or all of the chromosome region containing the gene. The latter is most frequently detected by DNA markers as loss of heterozygosity in the tumor tissue. In several reports, the paternal homologue was preferentially retained in embryonal tumors associated with loss of particular chromosomal regions, suggesting genomic imprinting of the corresponding tumor suppressor loci. To explore the ge...

  1. Leucine-Rich repeat receptor kinases are sporadically distributed in eukaryotic genomes

    Directory of Open Access Journals (Sweden)

    Diévart Anne

    2011-12-01

    Full Text Available Abstract Background Plant leucine-rich repeat receptor-like kinases (LRR-RLKs are receptor kinases that contain LRRs in their extracellular domain. In the last 15 years, many research groups have demonstrated major roles played by LRR-RLKs in plants during almost all developmental processes throughout the life of the plant and in defense/resistance against a large range of pathogens. Recently, a breakthrough has been made in this field that challenges the dogma of the specificity of plant LRR-RLKs. Results We analyzed ~1000 complete genomes and show that LRR-RK genes have now been identified in 8 non-plant genomes. We performed an exhaustive phylogenetic analysis of all of these receptors, revealing that all of the LRR-containing receptor subfamilies form lineage-specific clades. Our results suggest that the association of LRRs with RKs appeared independently at least four times in eukaryotic evolutionary history. Moreover, the molecular evolutionary history of the LRR-RKs found in oomycetes is reminiscent of the pattern observed in plants: expansion with amplification/deletion and evolution of the domain organization leading to the functional diversification of members of the gene family. Finally, the expression data suggest that oomycete LRR-RKs may play a role in several stages of the oomycete life cycle. Conclusions In view of the key roles that LRR-RLKs play throughout the entire lifetime of plants and plant-environment interactions, the emergence and expansion of this type of receptor in several phyla along the evolution of eukaryotes, and particularly in oomycete genomes, questions their intrinsic functions in mimicry and/or in the coevolution of receptors between hosts and pathogens.

  2. XPC Lys939Gln polymorphism, smoking and risk of sporadic colorectal cancer among Malaysians

    OpenAIRE

    Abdul Aziz Ahmad Aizat; Mohd Shahpudin Siti Nurfatimah; Mustapha Mohd Aminudin; Ravindran Ankathil

    2013-01-01

    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 controls)were 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 determ...

  3. 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.

  4. Molecular prognostic and predicitive markers of therapy response in sporadic colon cancer

    OpenAIRE

    Fariña Sarasqueta, Aranzazu

    2012-01-01

    Colon cancer is the third most frequent malignancy in the Western world. Average 5 year-survival is around 70% and depends on the stage of the disease being very poor (under 10% 5-year survival) for stage IV patients and excellent (more than 90% 5 year survival) for stage I patients. The prognosis of patients with stage II varies between 80 and 60% 5-year survival. The causes of this variation remain unclear. Furthermore, the prognosis of patients with stage III has improved significantly, re...

  5. The cohomology of the sporadic group $J_2$ over $\\mathbb{F}_3$

    OpenAIRE

    Ramos, Antonio Díaz; Ocaña, Oihana Garaialde

    2014-01-01

    We describe the cohomology ring $H^*(J_2;\\mathbb{F}_3)$ both as subring of $H^*(3^{1+2}_+;\\mathbb{F}_3)$ and with an abstract presentation. We also give its Poincar\\'{e} series. We use as tool a spectral sequence for the strongly closed $3$-subgroup of $J_2$. This method might be used to compute the cohomology of any finite simple group with a strongly closed $p$-subgroup.

  6. Poliposis múltiple juvenil no familiar: Caso clínico Sporadic juvenile multiple polyposis: Report of one case

    Directory of Open Access Journals (Sweden)

    Guillermo Bannura C

    2001-09-01

    Full Text Available We report a 15 years old girl presenting with severe hematochezia with secondary anemia and hemodynamic decompensation, rectal prolapse and spontaneous anal elimination of polyps. She had no family history of polyposis and a search for the disease in her close relatives was negative. A complete diagnostic work up did not find polyps in other segments of the digestive tract. Colonoscopy showed more than 200 polyps between the cecum and the rectum. Pathological analysis confirmed the presence of retention polyps with adenomatous areas and mild atypia. The patient was subjected to a proctocolectomy with ileal pouch and sphincteric preservation, using a mechanical suture. Postoperative evolution was uneventful and after 24 months of follow up, the patient is asymptomatic, with two stool movements per day and without incontinence (Rev Méd Chile 2001; 129: 1065-70

  7. Poliposis múltiple juvenil no familiar: Caso clínico / Sporadic juvenile multiple polyposis: Report of one case

    Scientific Electronic Library Online (English)

    Guillermo, Bannura C; Daniel, Soto C; María Teresa, Vial P.

    2001-09-01

    Full Text Available [...] Abstract in english We report a 15 years old girl presenting with severe hematochezia with secondary anemia and hemodynamic decompensation, rectal prolapse and spontaneous anal elimination of polyps. She had no family history of polyposis and a search for the disease in her close relatives was negative. A complete diag [...] nostic work up did not find polyps in other segments of the digestive tract. Colonoscopy showed more than 200 polyps between the cecum and the rectum. Pathological analysis confirmed the presence of retention polyps with adenomatous areas and mild atypia. The patient was subjected to a proctocolectomy with ileal pouch and sphincteric preservation, using a mechanical suture. Postoperative evolution was uneventful and after 24 months of follow up, the patient is asymptomatic, with two stool movements per day and without incontinence (Rev Méd Chile 2001; 129: 1065-70)

  8. Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy

    OpenAIRE

    Fujioka, Shinsuke; Algom, Avi A.; Murray, Melissa E; Strongosky, Audrey; Soto-Ortolaza, Alexandra I; Rademakers, Rosa; Ross, Owen A.; Wszolek, Zbigniew K; Dickson, Dennis W.

    2013-01-01

    Progressive supranuclear palsy (PSP) is a relatively common neurodegenerative tauopathy clinically characterized by parkinsonism, axial rigidity, and supranuclear gaze palsy. Pathologic findings of PSP are neuronal loss, gliosis, and neurofibrillary tangles in basal ganglia, diencephalon, and brainstem; there is increasing recognition of clinicopathologic variants of PSP.1

  9. Sporadic Groundwater Upwelling in Deep Martian Craters: Evidence for Lacustrine Clays and Carbonates

    Science.gov (United States)

    Michalski, J. R.; Rogers, A. D.; Wright, S. P.; Niles, P.; Cuadros, J.

    2012-01-01

    While the surface of Mars may have had an active hydrosphere early in its history [1], it is likely that this water retreated to the subsurface early on due to loss of the magnetic field and early atmosphere [2]. This likely resulted in the formation of two distinct aqueous regimes for Mars from the Late Noachian onward: one dominated by redistribution of surface ice and occasional melting of snow/ice [3], and one dominated by groundwater activity [4]. The excavation of alteration minerals from deep in the crust by impact craters points to an active, ancient, deep hydrothermal system [5]. Putative sapping features [6] may occur where the groundwater breached the surface. Upwelling groundwater may also have played a critical role in the formation of massive, layered, cemented sediments in Sinus Meridiani [7,8], in the Valles Marineris [9], and possibly in Gale Crater [10], where the Curiosity Rover will land later this year. Understanding the past distribution, geochemistry, and significance of groundwater on Mars is critical to untangling the origins of deep alteration minerals, Hesperian sulfate deposits, and crater fill deposits at Gale Crater or in other locations.

  10. Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in Czech Republic.

    Czech Academy of Sciences Publication Activity Database

    Poláková, Veronika; Pardini, Barbara; Naccarati, Alessio; Landi, S.; Slyšková, Jana; Novotný, J.; Vodi?ková, Ludmila; Bermejo, J.L.; Hánová, Monika; Šmerhovský, Z.; Tulupová, Elena; Kumar, R.; Hemminki, K.; Vodi?ka, Pavel

    2009-01-01

    Ro?. 30, ?. 4 (2009), s. 661-668. ISSN 1059-7794 R&D Projects: GA ?R GA310/07/1430 Grant ostatní: GA UK(CZ) GAUK 96908/8/2008 Institutional research plan: CEZ:AV0Z50390703; CEZ:AV0Z50390512 Keywords : TP53 * CDKN1A * genetic polymorphisms Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 6.887, year: 2009

  11. Sporadic incidence of Fascioliasis detected during Hepatobiliary procedures: A study of 18 patients from Sulaimaniyah governorate

    Directory of Open Access Journals (Sweden)

    Hawramy Tahir Abdullah Hussein

    2012-12-01

    Full Text Available Abstract Background Fascioliasis is an often-neglected zoonotic disease and currently is an emerging infection in Iraq. Fascioliasis has two distinct phases, an acute phase, exhibiting the hepatic migratory stage of the fluke’s life cycle, and a chronic biliary phase manifested with the presence of the parasite in the bile ducts through hepatic tissue. The incidence of Fascioliasis in Sulaimaniyah governorate was unexpected observation. We believe that shedding light on this disease in our locality will increase our physician awareness and experience in early detection, treatment in order to avoid unnecessary surgeries. Findings We retrospectively evaluated this disease in terms of the demographic features, clinical presentations, and managements by reviewing the medical records of 18 patients, who were admitted to the Sulaimani Teaching Hospital and Kurdistan Centre for Gastroenterology and Hepatology. Patients were complained from hepatobiliary and/or upper gastrointestinal symptoms and diagnosed accidentally with Fascioliasis during hepatobiliary surgeries and ERCP by direct visualization of the flukes and stone analysis. Elevated liver enzymes, white blood cells count and eosinophilia were notable laboratory indices. The dilated CBD, gallstones, liver cysts and abscess were found common in radiological images. Fascioliasis diagnosed during conventional surgical CBD exploration and choledochodoudenostomy, open cholecystectomy, surgical drainage of liver abscess, ERCP and during gallstone analysis. Conclusion Fascioliasis is indeed an emerging disease in our locality, but it is often underestimated and ignored. We recommend the differential diagnosis of patients suffering from Rt. Hypochondrial pain, fever and eosinophilia. The watercress ingestion was a common factor in patient’s history.

  12. 29 CFR 553.30 - Occasional or sporadic employment-section 7(p)(2).

    Science.gov (United States)

    2010-07-01

    ...the employee's decision to work in a different capacity must be...explain or justify the decision. (3) Typically...compensation due. (c) Different capacity. (1...coach for a basketball team or a maintenance...

  13. 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.

  14. Sporadic inclusion body myositis: morphology, regeneration, and cytoskeletal structure of muscle fibres

    OpenAIRE

    Arnardottir, S; Borg, K van der; Ansved, T

    2004-01-01

    Methods: 14 muscle biopsies from 11 patients with s-IBM were characterised for morphological abnormalities and fibre type composition as well as muscle fibre regeneration and cytoskeletal structure, using histochemical and immunohistochemical techniques.

  15. Halogenase Genes in Nonribosomal Peptide Synthetase Gene Clusters of Microcystis (Cyanobacteria): Sporadic Distribution and Evolution

    OpenAIRE

    Cadel-Six, Sabrina; Dauga, Catherine; Castets, Anne Marie; Rippka, Rosmarie; Bouchier, Christiane; Tandeau de Marsac, Nicole; Welker, Martin

    2008-01-01

    Cyanobacteria of the genus Microcystis are known to produce secondary metabolites of large structural diversity by nonribosomal peptide synthetase (NRPS) pathways. For a number of such compounds, halogenated congeners have been reported along with nonhalogenated ones. In the present study, chlorinated cyanopeptolin- and/or aeruginosin-type peptides were detected by mass spectrometry in 17 out of 28 axenic strains of Microcystis. In these strains, a halogenase gene was identified between 2 gen...

  16. Updates on the genetic variations of Norovirus in sporadic gastroenteritis in Chungnam Korea, 2009-2010

    Directory of Open Access Journals (Sweden)

    Park KwiSung

    2012-01-01

    Full Text Available Abstract Previously, we explored the epidemic pattern and molecular characterization of noroviruses (NoVs isolated in Chungnam, Korea in 2008, and the present study extended these observations to 2009 and 2010. In Korea, NoVs showed the seasonal prevalence from late fall to spring, and widely detected in preschool children and peoples over 60 years of age. Epidemiological pattern of NoV was similar in 2008 and in 2010, but pattern in 2009 was affected by pandemic influenza A/H1N1 2009 virus. NoV-positive samples were subjected to sequence determination of the capsid gene region, which resolved the isolated NoVs into five GI (2, 6, 7, 9 and 10 and eleven GII genotypes (1, 2, 3, 4, 6, 7, 8, 12, 13, 16 and 17. The most prevalent genotype was GII.4 and occupied 130 out of 211 NoV isolates (61.6%. Comparison of NoV GII.4 of prevalent genotype in these periods with reference strains of the same genotype was conducted to genetic analysis by a phylogenetic tree. The NoV GII.4 strains were segregated into seven distinct genetic groups, which are supported by high bootstrap values and previously reported clusters. All Korean NoV GII.4 strains belonged to either VI cluster or VII cluster. The divergence of nucleotide sequences within VI and VII intra-clusters was > 3.9% and > 3.5%, respectively. The "Chungnam(06-117/2010" strain which was isolated in June 2010 was a variant that did not belong to cluster VI or VII and showed 5.8-8.2%, 6.2-8.1% nucleotide divergence with cluster VI and VII, respectively.

  17. Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas.

    OpenAIRE

    Rowan, A.; Bataille, V.; Mackie, R.; Healy, E.; Bicknell, D.; Bodmer, W.; Tomlinson, I.

    1999-01-01

    Germline mutations in the LKB1/STK11 gene cause characteristic hamartomas and freckling to develop in patients with Peutz-Jeghers syndrome (PJS). The hamartomas arise as a result of somatic "second hits" at LKB1/STK11 and therefore contain a neoplastic element. The origin of the pigmented lesions in PJS is unknown and difficult to test, as these are hardly ever biopsied. PJS patients are at increased risk of benign and malignant tumors, particularly of the colon, breast, pancreas, testis, and...

  18. Sporadic Premature Aging in a Japanese Monkey: A Primate Model for Progeria

    Science.gov (United States)

    Oishi, Takao; Imai, Hiroo; Go, Yasuhiro; Imamura, Masanori; Hirai, Hirohisa; Takada, Masahiko

    2014-01-01

    In our institute, we have recently found a child Japanese monkey who is characterized by deep wrinkles of the skin and cataract of bilateral eyes. Numbers of analyses were performed to identify symptoms representing different aspects of aging. In this monkey, the cell cycle of fibroblasts at early passage was significantly extended as compared to a normal control. Moreover, both the appearance of senescent cells and the deficiency in DNA repair were observed. Also, pathological examination showed that this monkey has poikiloderma with superficial telangiectasia, and biochemical assay confirmed that levels of HbA1c and urinary hyaluronan were higher than those of other (child, adult, and aged) monkey groups. Of particular interest was that our MRI analysis revealed expansion of the cerebral sulci and lateral ventricles probably due to shrinkage of the cerebral cortex and the hippocampus. In addition, the conduction velocity of a peripheral sensory but not motor nerve was lower than in adult and child monkeys, and as low as in aged monkeys. However, we could not detect any individual-unique mutations of known genes responsible for major progeroid syndromes. The present results indicate that the monkey suffers from a kind of progeria that is not necessarily typical to human progeroid syndromes. PMID:25365557

  19. The C57BL/6J Mouse Exhibits Sporadic Congenital Portosystemic Shunts

    OpenAIRE

    Cudalbu, Cristina; Mclin, Vale?rie Anne; Lei, Hongxia; Duarte, Joao M. N.; Rougemont-pidoux, Anne-laure; Oldani, Graziano; Terraz, Sylvain; Toso, Christian; Gruetter, Rolf

    2013-01-01

    C57BL/6 mice are the most widely used strain of laboratory mice. Using in vivo proton Magnetic Resonance Spectroscopy (1H MRS), we have repeatedly observed an abnormal neurochemical profile in the brains of both wild-type and genetically modified mice derived from the C57BL/6J strain, consisting of a several fold increase in cerebral glutamine and two fold decrease in myo-inositol. This strikingly abnormal neurochemical “phenotype” resembles that observed in chronic liver disease or porto...

  20. Frequency of fibroblast growth factor receptor 3 mutations in sporadic tumours.

    Science.gov (United States)

    Sibley, K; Stern, P; Knowles, M A

    2001-07-19

    Mutations in FGFR3 have been identified in several tumour types including bladder carcinoma, cervical carcinoma, and multiple myeloma. In bladder carcinoma, we recently identified FGFR3 mutations in 41% of tumours, making this the most frequently mutated putative oncogene identified in bladder cancer to date. We have now investigated the frequency of FGFR3 mutation in a panel of 125 tumours and 13 cell lines from various other organs. We analysed the mutation hotspots in exons 7, 10 and 15 by direct DNA sequencing, and found one mutation in exon 7 (S249C) in 1/28 (3.5%) cervical tumours. Mutations were not detected in stomach, rectum, colon, prostate, ovarian, breast, brain, or renal tumours, nor were they found in any of the cell lines included in this study. We conclude that FGFR3 is commonly mutated in bladder carcinoma and only rarely in cervical carcinoma. Several tumour types appear not to possess any mutations in FGFR3, suggesting that these mutations are important only in the development of certain types of tumour. PMID:11466624

  1. Precursor Lesions for Sporadic Pancreatic Cancer: PanIN, IPMN, and MCN

    OpenAIRE

    Distler, M.; Aust, D.; Weitz, J.; Pilarsky, C.; Robert Grützmann

    2014-01-01

    Pancreatic cancer is still a dismal disease. The high mortality rate is mainly caused by the lack of highly sensitive and specific diagnostic tools, and most of the patients are diagnosed in an advanced and incurable stage. Knowledge about precursor lesions for pancreatic cancer has grown significantly over the last decade, and nowadays we know that mainly three lesions (PanIN, and IPMN, MCN) are responsible for the development of pancreatic cancer. The early detection of these lesions is sti...

  2. Significance of the Fanconi Anemia FANCD2 Protein in Sporadic and Metastatic Human Breast Cancer

    OpenAIRE

    Rudland, Philip S.; Platt-Higgins, Angela M.; Davies, Lowri M.; de Silva Rudland, Suzete; Wilson, James B.; Aladwani, Abdulaziz; Winstanley, John H.R.; Barraclough, Dong L.; Barraclough, Roger; West, Christopher R.; Jones, Nigel J.

    2010-01-01

    FANCD2, a pivotal protein in the Fanconi anemia and BRCA pathway/network, is monoubiquitylated in the nucleus in response to DNA damage. This study examines the subcellular location and relationship with prognostic factors and patient survival of FANCD2 in breast cancer. Antibodies to FANCD2 were used to immunocytochemically stain 16 benign and 20 malignant breast specimens as well as 314 primary breast carcinomas to assess its association with subcellular compartment and prognostic factors u...

  3. Sporadic Burkitt lymphomas of children and adolescents in Chinese: a clinicopathological study of 43 cases

    Directory of Open Access Journals (Sweden)

    Bi Cheng-Feng

    2012-06-01

    Full Text Available Abstract Background To investigate the clinical and pathologic features as well as the MYC translocations of childhood Burkitt lymphoma (BL from China. Methods Fourty-three cases of childhood BL were retrospectively investigated in morphology, immunophenotype, genotype, treatments and survival analysis. Results Clinically, there was a marked male predominance in sex distribution (M: F?=?9.75:1; abdomen was the most frequent extranodal sites of involvement (46.5?%, followed by jaws and facial bones (16.3?%. Two third of the patients were in stageI?~?II. Morphologically, 69.76?% of the cases showed classical histologic features, while 30.24?% of them showed greater nuclear pleomorphism in size and shape. Five cases (11.6?% were positive for EBER1/2. Thirty-one of the 40 cases (77.5?% had the aberration of IGH/MYC translocation while 7 (17.5?% had non-IGH/MYC translocation. Thirty patients (69.7?% received operation and/or chemotherapy while 13 patients (30.3?% received no treatment. Twenty-seven patients (62.8?% died of the tumor, 16 alive, with the average survival time 4.9 and 48.7?months respectively. High IPI, advanced clinical stage, increased serum level of LDH and no chemotherapy received as well as tumor size ?10?cm were related to the lower survival rates of the tumor. Conclusions Several differences were showed in this group of BL, including a much higher ratio of male patients, more cases in stageII, clinically inconsistent treatment and a very poor outcome. Virtual slides The virtual slide(s for this article can be found here http://www.diagnosticpathology.diagnomx.eu/vs/1552295877710135

  4. Surgical Treatment of Sporadic Pancreatic Neuroendocrine Tumors: A State of the Art Review

    OpenAIRE

    HAUGVIK, SVEN-PETTER; Labori, Knut Jørgen; Edwin, Bjørn; Mathisen, Øystein; Gladhaug, Ivar Prydz

    2012-01-01

    Pancreatic neuroendocrine tumors (PNETs) are rare neoplasms. They are clinically diverse and divided into functioning and nonfunctioning disease, depending on their ability to produce symptoms due to hormone production. Surgical resection is the only curative treatment and remains the cornerstone therapy for this patient group, even in patients with advanced disease. Over the last decade there has been a noticeable trend towards more aggressive surgery as well as more minimally invasive surge...

  5. Sporadic error probability due to alpha particles in dynamic memories of various technologies

    International Nuclear Information System (INIS)

    The sensitivity of MOS memory components to errors induced by alpha particles is expected to increase with integration level. The soft error rate of a 65-kbit VMOS memory has been compared experimentally with that of three field-proven 16-kbit designs. The technological and design advantages of the VMOS RAM ensure an error rate which is lower than those of the 16-kbit memories. Calculation of the error probability for the 65-kbit RAM and comparison with the measurements show that for large duty cycles single particle hits lead to sensing errors and for small duty cycles cell errors caused by multiple hits predominate. (Auth.)

  6. 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...

  7. 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...

  8. On the problem of geoeffectiveness of sporadic phenomena on the Sun

    International Nuclear Information System (INIS)

    It is shown that storm sudden commencements (SSCs) are caused mainly by flares of importance 2F and higher (i.e. powerful flares) and active filaments (AF). A correlation between the variation of the total number of SSCs plus their part associated with powerful flares, covering a 1-year period, and the variation of Wolf numbers over a cycle of solar activity, is found, as well as an anticorrelation of the variation of the parts of SSCs which are produced by active filaments. It is shown that shock waves that are triggered by flares and AFs propagate preferentially along the heliospheric current sheet; this seems to be caused by a violation of the conditions for excitation of a bow shock by a transient beyond the confines of the heliospheric current sheet. (author)

  9. Polymorphisms within micro-RNA-binding sites and risk of sporadic colorectal cancer.

    Czech Academy of Sciences Publication Activity Database

    Landi, D.; Gemignani, F.; Naccarati, Alessio; Pardini, Barbara; Vodi?ka, Pavel; Vodi?ková, Ludmila; Novotný, J.; Försti, A.; Hemminki, K.; Canzian, F.; Landi, S.

    2008-01-01

    Ro?. 29, ?. 3 (2008), s. 579-584. ISSN 0143-3334 R&D Projects: GA ?R GA310/05/2626; GA ?R GA310/07/1430 Institutional research plan: CEZ:AV0Z50390703 Keywords : Colorectal cancer * Messenger RNA * Micro-RNA Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.930, year: 2008

  10. Leucine-Rich repeat receptor kinases are sporadically distributed in eukaryotic genomes

    OpenAIRE

    Diévart Anne; Gilbert Nicolas; Droc Gaétan; Attard Agnès; Gourgues Matthieu; Guiderdoni Emmanuel; Périn Christophe

    2011-01-01

    Abstract Background Plant leucine-rich repeat receptor-like kinases (LRR-RLKs) are receptor kinases that contain LRRs in their extracellular domain. In the last 15 years, many research groups have demonstrated major roles played by LRR-RLKs in plants during almost all developmental processes throughout the life of the plant and in defense/resistance against a large range of pathogens. Recently, a breakthrough has been made in this field that challenges the dogma of the specificity of plant LR...

  11. Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease

    OpenAIRE

    Serena Bucossi; Stefania Mariani; Mariacarla Ventriglia; Renato Polimanti; Massimo Gennarelli; Cristian Bonvicini; Patrizio Pasqualetti; Federica Scrascia; Simone Migliore; Fabrizio Vernieri; Rossini, Paolo M.; Rosanna Squitti

    2011-01-01

    Nonceruloplasmin-bound copper (“free”) is reported to be elevated in Alzheimer's disease (AD). In Wilson's disease (WD) Cu-ATPase 7B protein tightly controls free copper body levels. To explore whether the ATP7B gene harbours susceptibility loci for AD, we screened 180 AD chromosomes for sequence changes in exons 2, 5, 8, 10, 14, and 16, where most of the Mediterranean WD-causing mutations lie. No WD mutation, but sequence changes corresponding to c.1216 T>G Single-Nucleotide Polymorphism (SN...

  12. Exome sequencing to identify de novo mutations in sporadic ALS trios

    OpenAIRE

    Chesi, Alessandra; Staahl, Brett T.; Jovicic, Ana; Couthouis, Julien; Fasolino, Maria; Raphael, Alya R.; Yamazaki, Tomohiro; Elias, Laura; Polak, Meraida; Kelly, Crystal; Williams, Kelly L.; Fifita, Jennifer A.; Maragakis, Nicholas J.; Nicholson, Garth A.; King, Oliver D.

    2013-01-01

    ALS is a devastating neurodegenerative disease whose causes are still poorly understood. To identify additional genetic risk factors, here we assess the role of de novo mutations in ALS by sequencing the exomes of 47 ALS patients and both of their unaffected parents (n=141 exomes). We found that amino acid-altering de novo mutations are enriched in genes encoding chromatin regulators, including the neuronal chromatin remodeling complex component SS18L1/CREST. CREST mutations inhibit activity-...

  13. Molecular characteristics of mismatch repair genes in sporadic colorectal tumors in Czech patients.

    Czech Academy of Sciences Publication Activity Database

    Vymetálková, Veronika; Slyšková, Jana; Korenková, Vlasta; Bielik, Ludovít; Langerová, Lucie; Procházka, Pavel; Rejhová, Alexandra; Schwarzová, L.; Pardini, B.; Naccarati, Alessio; Vodi?ka, Pavel

    2014-01-01

    Ro?. 15, ?. 1 (2014), s. 17. ISSN 1471-2350 R&D Projects: GA AV ?R IAA500200917; GA ?R(CZ) GPP304/11/P715 Grant ostat