MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM.

Science.gov (United States)

Arnold, Andrew

2016-01-01

Primary hyperparathyroidism is primarily due to a solitary parathyroid adenoma but multi-gland disease, parathyroid carcinoma, and ectopic parathyroid hormone production can occur. Although primary hyperparathyroidism mostly presents sporadically, strong familial predispositions also exist. Much is known about heritable genetic mutations responsible for these syndromes, including multiple endocrine neoplasia types 1 and 2A, hyperparathyroidism-jaw tumor syndrome, and familial hypocalciuric hypercalcemia. Acquired mutations in common sporadic hyperparathyroidism have also been discovered. Here we focus on the most common and well-established genetic drivers: 1) involvement of the oncogene cyclin D1 in human neoplasia was first established in parathyroid adenomas, followed by recognition of its importance in other tumor types including breast cancer and B-lymphoid malignancy; and 2) somatic mutation of the MEN1 gene, first identified as the source of pathogenic germline mutations in patients with familial endocrinopathies, is found in a substantial fraction of non-familial parathyroid adenomas.

Strong Anderson localization in cold atom quantum quenches.

Science.gov (United States)

Micklitz, T; Müller, C A; Altland, A

2014-03-21

Signatures of Anderson localization in the momentum distribution of a cold atom cloud after a quantum quench are studied. We consider a quasi-one-dimensional cloud initially prepared in a well-defined momentum state, and expanding for some time in a disorder speckle potential. Quantum interference generates a peak in the forward scattering amplitude which, unlike the common weak localization backscattering peak, is a signature of strong Anderson localization. We present a nonperturbative, and fully time resolved description of the phenomenon, covering the entire diffusion-to-localization crossover. Our results should be observable by present day experiments.

Hypermethylation of the FANCC and FANCL Promoter Regions in Sporadic Acute Leukaemia

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C. J. Hess

2008-01-01

Full Text Available Objective: Inactivation of the FA-BRCA pathway results in chromosomal instability. Fanconi anaemia (FA patients have an inherited defect in this pathway and are strongly predisposed to the development of acute myeloid leukaemia (AML. Studies in sporadic cancers have shown promoter methylation of the FANCF gene in a significant proportion of various solid tumours. However, only a single leukaemic case with methylation of one of the FA-BRCA genes has been described to date, i.e. methylation of FANCF in cell line CHRF-288. We investigated the presence of aberrant methylation in 11 FA-BRCA genes in sporadic cases of leukaemia.

Adult onset sporadic ataxias: a diagnostic challenge

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Orlando Graziani Povoas Barsottini

2014-03-01

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

Can the TLR-4-Mediated Signaling Pathway Be “A Key Inflammatory Promoter for Sporadic TAA”?

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Giovanni Ruvolo

2014-01-01

Full Text Available Thoracic aorta shows with advancing age various changes and a progressive deterioration in structure and function. As a result, vascular remodeling (VR and medial degeneration (MD occur as pathological entities responsible principally for the sporadic TAA onset. Little is known about their genetic, molecular, and cellular mechanisms. Recent evidence is proposing the strong role of a chronic immune/inflammatory process in their evocation and progression. Thus, we evaluated the potential role of Toll like receptor- (TLR- 4-mediated signaling pathway and its polymorphisms in sporadic TAA. Genetic, immunohistochemical, and biochemical analyses were assessed. Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR=14.4, P=0.0008 and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor. In consistency with these data, a significant association was observed between their combined risk genotype and sporadic TAA. Cases bearing this risk genotype showed higher systemic inflammatory mediator levels, significant inflammatory/immune infiltrate, a typical MD phenotype, lower telomere length, and positive correlations with histopatological abnormalities, hypertension, smoking, and ageing. Thus, TLR4 pathway should seem to have a key role in sporadic TAA. It might represent a potential useful tool for preventing and monitoring sporadic TAA and developing personalized treatments.

Investigation on the relationship among sporadic Na, sporadic E, Field aligned irregularities and neutral winds

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Sundararajan, Sridharan; Patra, Amit Kumar; Pant, Tarun; Gurubaran, Subramanian; Raghunath, Karnam

In the Mesosphere and Lower Thermosphere region (80-100 km), metallic atoms, namely, sodium, potassium, lithium, Iron etc are formed due to ablation of meteors. The lidars based on resonance fluorescence principle has been used to study the vertical distribution of sodium atoms, because of their large abundance than other metals. The profiles of sodium density sometimes show enhancement by a factor of 2 than the normal layer in a narrow altitude region of 2 km and on these occasions, they are called sporadic sodium layer, or briefly Ns. On the other hand, there are observations on sporadic E and radar observations of Field Aligned Irregularities (FAI) associated with these sporadic E. Some investigations have been made to understand the relationship between sporadic E and FAI. Considering that sporadic E is composed of metallic ions and the time of metallic ions are larger compared to other ions, the sodium observations in the same height region would be of significant importance to understand the process involved. Despite a few past observations, no clear picture has emerged due to lack of simultaneous measurements of these parameters. The simultaneous observations of FAI echoes by the Indian MST radar and sodium concentration by the sodium lidar at Gadanki (13.5o N, 79.2o E) are being used to investigate the above mentioned relationship. The Sporadic E and neutral wind information are obtained from the ionosonde, meteor/MF radar observations from Trivandrum (8.5o N, 77E) and Tirunelveli (8.7o N, 77.8o E). The results obtained will be presented during the meeting.

Prognostic and Predictive Value of CpG Island Methylator Phenotype in Patients with Locally Advanced Nonmetastatic Sporadic Colorectal Cancer

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Yuwei Wang

2014-01-01

Full Text Available Purpose. In the present study, the prognostic significance of CpG island methylator phenotype (CIMP in stage II/III sporadic colorectal cancer was evaluated using a five-gene panel. Methods. Fifty stage II/III colorectal cancer patients who received radical resection were included in this study. Promoter methylation of p14ARF, hMLH1, p16INK4a, MGMT, and MINT1 was determined by methylation specific polymerase chain reaction (MSP. CIMP positive was defined as hypermethylation of three or more of the five genes. Impact factors on disease-free survival (DFS and overall survival (OS were analyzed using Kaplan-Meier method (log-rank test and adjusted Cox proportional hazards model. Results. Twenty-four percent (12/50 of patients were characterized as CIMP positive. Univariate analysis showed stage III (P=0.049 and CIMP positive (P=0.014 patients who had significantly inferior DFS. In Cox regression analysis, CIMP positive epigenotype was independently related with poor DFS with HR = 2.935 and 95% CI: 1.193–7.220 (P=0.019. In patients with CIMP positive tumor, those receiving adjuvant chemotherapy had a poor DFS than those without adjuvant chemotherapy (P=0.023. Conclusions. CIMP positive was significantly correlated with decreased DFS in stage II/III colorectal cancer. Patients with CIMP positive locally advanced sporadic colorectal cancers may not benefit from 5-fluorouracil based adjuvant chemotherapy.

Sporadic Endolymphatic Sac Tumor-A Very Rare Cause of Hearing Loss, Tinnitus, and Dizziness

DEFF Research Database (Denmark)

Schnack, Didde Trærup; Kiss, Katalin; Hansen, Søren

2017-01-01

Sporadic endolymphatic sac tumor is a very rare neoplasm. It is low malignant, locally destructive and expansive, but non-metastasizing. The tumor is very rare in the sporadic form, but more often associated with Von Hippel-Lindau disease. A 65-year old man with left sided tinnitus and hearing loss......-operative freeze-microscopy showed inflammation tissue, whereas subsequent microscopy showed papillary-cystic endolymphatic sac tumor. Endolymphatic sac tumor is a rare neoplasm. The tumor may present with asymmetrically sensory neural hearing loss with or without tinnitus, dizziness and facial nerve paresis...

White matter involvement in sporadic Creutzfeldt-Jakob disease.

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Caverzasi, Eduardo; Mandelli, Maria Luisa; DeArmond, Stephen J; Hess, Christopher P; Vitali, Paolo; Papinutto, Nico; Oehler, Abby; Miller, Bruce L; Lobach, Irina V; Bastianello, Stefano; Geschwind, Michael D; Henry, Roland G

2014-12-01

Sporadic Creutzfeldt-Jakob disease is considered primarily a disease of grey matter, although the extent of white matter involvement has not been well described. We used diffusion tensor imaging to study the white matter in sporadic Creutzfeldt-Jakob disease compared to healthy control subjects and to correlated magnetic resonance imaging findings with histopathology. Twenty-six patients with sporadic Creutzfeldt-Jakob disease and nine age- and gender-matched healthy control subjects underwent volumetric T1-weighted and diffusion tensor imaging. Six patients had post-mortem brain analysis available for assessment of neuropathological findings associated with prion disease. Parcellation of the subcortical white matter was performed on 3D T1-weighted volumes using Freesurfer. Diffusion tensor imaging maps were calculated and transformed to the 3D-T1 space; the average value for each diffusion metric was calculated in the total white matter and in regional volumes of interest. Tract-based spatial statistics analysis was also performed to investigate the deeper white matter tracts. There was a significant reduction of mean (P=0.002), axial (P=0.0003) and radial (P=0.0134) diffusivities in the total white matter in sporadic Creutzfeldt-Jakob disease. Mean diffusivity was significantly lower in most white matter volumes of interest (PCreutzfeldt-Jakob disease. Mean diffusivity reduction reflected concomitant decrease of both axial and radial diffusivity, without appreciable changes in white matter anisotropy. Tract-based spatial statistics analysis showed significant reductions of mean diffusivity within the white matter of patients with sporadic Creutzfeldt-Jakob disease, mainly in the left hemisphere, with a strong trend (P=0.06) towards reduced mean diffusivity in most of the white matter bilaterally. In contrast, by visual assessment there was no white matter abnormality either on T2-weighted or diffusion-weighted images. Widespread reduction in white matter mean

COL11A1 in FAP polyps and in sporadic colorectal tumors

International Nuclear Information System (INIS)

Fischer, Heléne; Salahshor, Sima; Stenling, Roger; Björk, Jan; Lindmark, Gudrun; Iselius, Lennart; Rubio, Carlos; Lindblom, Annika

2001-01-01

We previously reported that the α-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 β-catenin. 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/β-catenin pathway. 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/β-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. Our results suggest that expression of COL11A1 in colorectal tumors could be associated with the APC/β-catenin pathway in FAP and sporadic colorectal cancer

Neuropathological and biochemical criteria to identify acquired Creutzfeldt-Jakob disease among presumed sporadic cases.

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Kobayashi, Atsushi; Parchi, Piero; Yamada, Masahito; Mohri, Shirou; Kitamoto, Tetsuyuki

2016-06-01

As an experimental model of acquired Creutzfeldt-Jakob disease (CJD), we performed transmission studies of sporadic CJD using knock-in mice expressing human prion protein (PrP). In this model, the inoculation of the sporadic CJD strain V2 into animals homozygous for methionine at polymorphic codon 129 (129 M/M) of the PRNP gene produced quite distinctive neuropathological and biochemical features, that is, widespread kuru plaques and intermediate type abnormal PrP (PrP(Sc) ). Interestingly, this distinctive combination of molecular and pathological features has been, to date, observed in acquired CJD but not in sporadic CJD. Assuming that these distinctive phenotypic traits are specific for acquired CJD, we revisited the literature and found two cases showing widespread kuru plaques despite the 129 M/M genotype, in a neurosurgeon and in a patient with a medical history of neurosurgery without dura mater grafting. By Western blot analysis of brain homogenates, we revealed the intermediate type of PrP(Sc) in both cases. Furthermore, transmission properties of brain extracts from these two cases were indistinguishable from those of a subgroup of dura mater graft-associated iatrogenic CJD caused by infection with the sporadic CJD strain V2. These data strongly suggest that the two atypical CJD cases, previously thought to represent sporadic CJD, very likely acquired the disease through exposure to prion-contaminated brain tissues. Thus, we propose that the distinctive combination of 129 M/M genotype, kuru plaques, and intermediate type PrP(Sc) , represents a reliable criterion for the identification of acquired CJD cases among presumed sporadic cases. © 2015 Japanese Society of Neuropathology.

Strong Localization in Disordered Media: Analysis of the Backscattering Cone

KAUST Repository

Delgado, Edgar

2012-06-01

A very interesting effect in light propagation through a disordered system is Anderson localization of light, this phenomenon emerges as the result of multiple scattering of waves by electric inhomogeneities like spatial variations of index of refraction; as the amount of scattering is increased, light propagation is converted from quasi-diffusive to exponentially localized, with photons confined in a limited spatial region characterized by a fundamental quantity known as localization length. Light localization is strongly related to another interference phenomenon emerged from the multiple scattering effect: the coherent backscattering effect. In multiple scattering of waves, in fact, coherence is preserved in the backscattering direction and produces a reinforcement of the field flux originating an observable peak in the backscattered intensity, known as backscattering cone. The study of this peak provide quantitative information about the transport properties of light in the material. In this thesis we report a complete FDTD ab-initio study of light localization and coherent backscattering. In particular, we consider a supercontinuum pulse impinging on a sample composed of randomly positioned scatterers. We study coherent backscattering by averaging over several realizations of the sample properties. We study then the coherent backscattering cone properties as the relative permittivity of the sample is changed, relating the latter with the light localization inside the sample. We demonstrate important relationships between the width of the backscattering cone and the localization length, which shows a linear proportionality in the strong localization regime.

Strongly Localized Image States of Spherical Graphitic Particles

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Godfrey Gumbs

2014-01-01

Full Text Available We investigate the localization of charged particles by the image potential of spherical shells, such as fullerene buckyballs. These spherical image states exist within surface potentials formed by the competition between the attractive image potential and the repulsive centripetal force arising from the angular motion. The image potential has a power law rather than a logarithmic behavior. This leads to fundamental differences in the nature of the effective potential for the two geometries. Our calculations have shown that the captured charge is more strongly localized closest to the surface for fullerenes than for cylindrical nanotube.

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

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H. Chandra

2001-01-01

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

Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

Science.gov (United States)

Kallenberg, K.; Summers, D. M.; Romero, C.; Taratuto, A.; Heinemann, U.; Breithaupt, M.; Varges, D.; Meissner, B.; Ladogana, A.; Schuur, M.; Haik, S.; Collins, S. J.; Jansen, Gerard H.; Stokin, G. B.; Pimentel, J.; Hewer, E.; Collie, D.; Smith, P.; Roberts, H.; Brandel, J. P.; van Duijn, C.; Pocchiari, M.; Begue, C.; Cras, P.; Will, R. G.; Sanchez-Juan, P.

2009-01-01

Several molecular subtypes of sporadic Creutzfeldt–Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications have demonstrated a potentially important role for magnetic resonance imaging in the pre-mortem diagnosis of sporadic Creutzfeldt–Jakob disease. Magnetic resonance imaging signal alterations correlate with distinct sporadic Creutzfeldt–Jakob disease molecular subtypes and thus might contribute to the earlier identification of the whole spectrum of sporadic Creutzfeldt–Jakob disease cases. This multi-centre international study aimed to provide a rationale for the amendment of the clinical diagnostic criteria for sporadic Creutzfeldt–Jakob disease. Patients with sporadic Creutzfeldt–Jakob disease and fluid attenuated inversion recovery or diffusion-weight imaging were recruited from 12 countries. Patients referred as ‘suspected sporadic Creutzfeldt–Jakob disease’ but with an alternative diagnosis after thorough follow up, were analysed as controls. All magnetic resonance imaging scans were assessed for signal changes according to a standard protocol encompassing seven cortical regions, basal ganglia, thalamus and cerebellum. Magnetic resonance imaging scans were evaluated in 436 sporadic Creutzfeldt–Jakob disease patients and 141 controls. The pattern of high signal intensity with the best sensitivity and specificity in the differential diagnosis of sporadic Creutzfeldt–Jakob disease was identified. The optimum diagnostic accuracy in the differential diagnosis of rapid progressive dementia was obtained when either at least two cortical regions (temporal, parietal or occipital) or both caudate nucleus and putamen displayed a high signal in fluid attenuated inversion recovery or diffusion-weight imaging magnetic resonance imaging. Based on our analyses, magnetic

Magnetic eta index and the ability to forecast sporadic E layer appearance

Science.gov (United States)

Dziak-Jankowska, Beata; Stanislawska, Iwona; Pozoga, Mariusz; Tomasik, Lukasz; Ernst, Tomasz

2012-07-01

We analysed the correlation of the changes of the magnetic vertical component with the ionospheric deviations from monthly median of the E layer characteristics. Promising results indicate that the eta parameter can be used to predict sporadic E layer during magnetically quiet days. Our previous work concern the data from only one year - 2004. During the descending phase of solar cycle in 2004 there was not numerous amount of quiet days. We extend our research to other years starting from 1996 and focusing on 2007 - 2009, years of the prolonged solar minimum. The analysis shows that under magnetically quiet circumstances the magnetic index eta indicates large magnetic disturbance, especially in vertical component when other magnetic indices inform about quiet magnetic conditions. The results indicate that the increase of the magnetic eta index (the ratio of the variations of vertical component of the external magnetic field to the horizontal component) is associated with the emergence of sporadic E layer or with increase of foEs critical frequency of sporadic E layer. The appearance of sporadic E layer followed 1-2 h after growth of magnetic index eta. An important conclusion is that the analysis of the hourly ionospheric data does not give 100% correlation between the increase of eta and the emergence of Es layer, however, studies of dense measurement data show that the correlation is almost 100%. An advantage of the eta index is the fact that after eliminating the effect of currents induced within the Earth, eta index bring independent and meaningful information on the system of current in the ionosphere. Hence, the eta index could be an important element of the ionosphere monitoring and can be used to predict such local phenomenon like the appearance of the sporadic E layer.

<strong>Size and local democracystrong>

DEFF Research Database (Denmark)

Mouritzen, Poul Erik; Rose, Lawrence

2009-01-01

The issue of the appropriate scale for local government has regularly appeared on the agenda of public sector reformers. In the empirical work devoted to this issue, the principal focus has been on the implications of size for efficiency in local service provision. Relatively less emphasis has be...

Localized-magnon states in strongly frustrated quantum spin lattices

International Nuclear Information System (INIS)

Richter, J.

2005-01-01

Recent developments concerning localized-magnon eigenstates in strongly frustrated spin lattices and their effect on the low-temperature physics of these systems in high magnetic fields are reviewed. After illustrating the construction and the properties of localized-magnon states we describe the plateau and the jump in the magnetization process caused by these states. Considering appropriate lattice deformations fitting to the localized magnons we discuss a spin-Peierls instability in high magnetic fields related to these states. Last but not least we consider the degeneracy of the localized-magnon eigenstates and the related thermodynamics in high magnetic fields. In particular, we discuss the low-temperature maximum in the isothermal entropy versus field curve and the resulting enhanced magnetocaloric effect, which allows efficient magnetic cooling from quite large temperatures down to very low ones

Pontine hyperperfusion in sporadic hyperekplexia.

Science.gov (United States)

Vetrugno, Roberto; Mascalchi, Mario; Vella, Alessandra; Della Nave, Riccardo; Guerrini, Laura; Vattimo, Angelo; del Giudice, Emanuele Miraglia; Plazzi, Giuseppe; D'Angelo, Roberto; Greco, Giovanni; Montagna, Pasquale

2007-09-01

To explore with neuroimaging techniques the anatomical and functional correlates of sporadic hyperekplexia. Two elderly women with sporadic hyperekplexia underwent neurophysiological assessment, MRI of the brain and proton magnetic resonance spectroscopy (1H-MRS) of the brainstem and frontal lobes. Regional cerebral blood flow was investigated with single photon emission tomography (SPECT) during evoked startles and at rest. Both patients showed excessively large and non-habituating startle responses. In both patients, MRI showed impingement of the brainstem by the vertebrobasilar artery, lack of frontal or brainstem abnormalities on 1H-MRS and hyperperfusion in the dorsal pons and cingulate cortex, and superior frontal gyrus at SPECT during evoked startles. In our patients with hyperekplexia, the vertebrobasilar arteries were found to impinge on the brainstem. Neurophysiological findings and neurofunctional imaging of evoked startles indicated a pontine origin of the movement disorder modulated by activation in cortical, especially frontal, areas. The neurofunctional correlates of evoked startles in human sporadic hyperekplexia are similar to those observed for the startle circuit in animals.

Application of quantitative DTI metrics in sporadic CJD

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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.

Measuring sporadic gastrointestinal illness associated with drinking water - an overview of methodologies.

Science.gov (United States)

Bylund, John; Toljander, Jonas; Lysén, Maria; Rasti, Niloofar; Engqvist, Jannes; Simonsson, Magnus

2017-06-01

There is an increasing awareness that drinking water contributes to sporadic gastrointestinal illness (GI) in high income countries of the northern hemisphere. A literature search was conducted in order to review: (1) methods used for investigating the effects of public drinking water on GI; (2) evidence of possible dose-response relationship between sporadic GI and drinking water consumption; and (3) association between sporadic GI and factors affecting drinking water quality. Seventy-four articles were selected, key findings and information gaps were identified. In-home intervention studies have only been conducted in areas using surface water sources and intervention studies in communities supplied by ground water are therefore needed. Community-wide intervention studies may constitute a cost-effective alternative to in-home intervention studies. Proxy data that correlate with GI in the community can be used for detecting changes in the incidence of GI. Proxy data can, however, not be used for measuring the prevalence of illness. Local conditions affecting water safety may vary greatly, making direct comparisons between studies difficult unless sufficient knowledge about these conditions is acquired. Drinking water in high-income countries contributes to endemic levels of GI and there are public health benefits for further improvements of drinking water safety.

Inheritable and sporadic non-autoimmune hyperthyroidism.

Science.gov (United States)

Ferraz, Carolina; Paschke, Ralf

2017-03-01

Hyperthyroidism is a clinical state that results from high thyroid hormone levels which has multiple etiologies, manifestations, and potential therapies. Excluding the autoimmune Graves disease, autonomic adenomas account for the most import cause of non-autoimmune hyperthyroidism. Activating germline mutations of the TSH receptor are rare etiologies for hyperthyroidism. They can be inherited in an autosomal dominant manner (familial or hereditary, FNAH), or may occur sporadically as a de novo condition, also called: persistent sporadic congenital non-autoimmune hyperthyroidism (PSNAH). These three conditions: autonomic adenoma, FNAH and PSNAH constitute the inheritable and sporadic non-autoimmune hyperthyroidism. Particularities in epidemiology, etiology, molecular and clinical aspects of these three entities will be discussed in this review in order to guide to an accurate diagnosis allowing among others genetic counseling and presymptomatic diagnosis for the affected families. The optimal treatment based on the right diagnosis will avoid consequences of a persistent or relapsing hyperthyroidism. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

Sporadic-E and spread-F in high latitude region

International Nuclear Information System (INIS)

Tao, Kazuhiko

1974-01-01

The heretofore made morphological studies of sporadic-E and spread-F as the typical irregularities of electron density are reviewed. These phenomena have close correlation with other geophysical phenomena which occur in the atmosphere of superhigh altitude in high latitude region. Many of these phenomena occur from same causes. Although the quantitative data are insufficient, the sporadic-E and spread-F in high latitude region are supposed to be caused by the precipitating charged particles falling from magnetosphere. A system, which can observe such phenomena simultaneously using the measuring instruments carried by satellites in the atmosphere of high altitude over high latitude region, is desirable to solve such problems. In detail, the morphological study on sporadic-E obtained from the observation of vertically projected ionosphere and the morphological study on sporadic-E from the observation of forward scattering and slanting entrance are reviewed. The correlation of the occurrence frequency of sporadic-E with solar activity, geomagnetic activity and other phenomena was studied. The morphological study on spread-F occurrence is reviewed. The observation of the spread-F in high latitude region by the application of top side sounding is reviewed. The correlation of the sporadic-E and spread-F in high latitude region with other geophysical phenomena is discussed. Finally, the discrete phenomenon and the diffuse phenomenon are discussed too. (Iwakiri, K.)

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  f₀E_s and f_bE_s 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

Crossover in tunneling hops in systems of strongly localized electrons

International Nuclear Information System (INIS)

Lien Nguyen, V.; Gamietea, A.D.

1995-11-01

Accurate Monte-Carlo simulation data show a consistent crossover in different characters of tunneling hops in two-dimensional systems of strongly localized electrons in the presence of scattering and quantum interference of hopping paths. The results also suggest a negative answer to the question whether there is a two-dimensional sign phase transition. The fractal behaviour observed in the direction perpendicular to the hopping direction is found to be similar to that for eigenstates in one-dimensional localized systems. (author). 16 refs, 6 figs

Strong quantum scarring by local impurities

Science.gov (United States)

Luukko, Perttu J. J.; Drury, Byron; Klales, Anna; Kaplan, Lev; Heller, Eric J.; Räsänen, Esa

2016-11-01

We discover and characterise strong quantum scars, or quantum eigenstates resembling classical periodic orbits, in two-dimensional quantum wells perturbed by local impurities. These scars are not explained by ordinary scar theory, which would require the existence of short, moderately unstable periodic orbits in the perturbed system. Instead, they are supported by classical resonances in the unperturbed system and the resulting quantum near-degeneracy. Even in the case of a large number of randomly scattered impurities, the scars prefer distinct orientations that extremise the overlap with the impurities. We demonstrate that these preferred orientations can be used for highly efficient transport of quantum wave packets across the perturbed potential landscape. Assisted by the scars, wave-packet recurrences are significantly stronger than in the unperturbed system. Together with the controllability of the preferred orientations, this property may be very useful for quantum transport applications.

Octodon Degus: A Strong Attractor for Alzheimer Research

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Rafael Castro-Fuentes

2013-01-01

Full Text Available   The most popular animal models of Alzheimer’s disease (AD are transgenic mice expressing human genes with known mutations which do not represent the most abundant sporadic form of the disease. An increasing number of genetic, vascular and psychosocial data strongly support that the Octodon degus, a moderate-sized and diurnal precocial rodent, provides a naturalistic model for the study of the early neurodegenerative process associated with sporadic AD. In this minireview we describe and analyze the risk factors that contribute to Alzheimer-like characteristics in the degus, following recent publications, and establish some guidelines for future studies in this model of natural aging associated with the disease. Given the heterogeneity of current data derived from the diverse transgenic animal models of AD, now may be the time for the degus to become a strong attractor for academic research labs and companies involved with AD. This may help to understand the mechanisms responsible for the early neurodegenerative process associated with this devastating disease.

Octodon Degus: A Strong Attractor for Alzheimer Research

Directory of Open Access Journals (Sweden)

Rafael Castro-Fuentes

2013-02-01

Full Text Available The most popular animal models of Alzheimer’s disease (AD are transgenic mice expressing human genes with known mutations which do not represent the most abundant sporadic form of the disease. An increasing number of genetic, vascular and psychosocial data strongly support that the Octodon degus, a moderate-sized and diurnal precocial rodent, provides a naturalistic model for the study of the early neurodegenerative process associated with sporadic AD. In this minireview we describe and analyze the risk factors that contribute to Alzheimer-like characteristics in the degus, following recent publications, and establish some guidelines for future studies in this model of natural aging associated with the disease. Given the heterogeneity of current data derived from the diverse transgenic animal models of AD, now may be the time for the degus to become a strong attractor for academic research labs and companies involved with AD. This may help to understand the mechanisms responsible for the early neurodegenerative process associated with this devastating disease.

Many-body Anderson localization of strongly interacting bosons in random lattices

International Nuclear Information System (INIS)

Katzer, Roman

2015-05-01

In the present work, we investigate the problem of many-body localization of strongly interacting bosons in random lattices within the disordered Bose-Hubbard model. This involves treating both the local Mott-Hubbard physics as well as the non-local quantum interference processes, which give rise to the phenomenon of Anderson localization, within the same theory. In order to determine the interaction induced transition to the Mott insulator phase, it is necessary to treat the local particle interaction exactly. Therefore, here we use a mean-field approach that approximates only the kinetic term of the Hamiltonian. This way, the full problem of interacting bosons on a random lattice is reduced to a local problem of a single site coupled to a particle bath, which has to be solved self-consistently. In accordance to previous works, we find that a finite disorder width leads to a reduced size of the Mott insulating regions. The transition from the superfluid phase to the Bose glass phase is driven by the non-local effect of Anderson localization. In order to describe this transition, one needs to work within a theory that is non-local as well. Therefore, here we introduce a new approach to the problem. Based on the results for the local excitation spectrum obtained within the mean-field theory, we reduce the full, interacting model to an effective, non-interacting model by applying a truncation scheme to the Hilbert space. Evaluating the long-ranged current density within this approximation, we identify the transition from the Bose glass to the superfluid phase with the Anderson transition of the effective model. Resolving this transition using the self-consistent theory of localization, we obtain the full phase diagram of the disordered Bose-Hubbard model in the regime of strong interaction and larger disorder. In accordance to the theorem of inclusions, we find that the Mott insulator and the superfluid phase are always separated by the compressible, but insulating

Occurrence of the blanketing sporadic E layer during the recovery phase of the October 2003 superstorm

Science.gov (United States)

Denardini, Clezio Marcos; Resende, Laysa Cristina Araújo; Moro, Juliano; Chen, Sony Su

2016-05-01

We have routinely monitored the total frequency ( ftEs) and the blanketing frequency ( fbEs) of sporadic E layers with the digital sounder under the magnetic equator in the Brazilian sector. Sporadic layers appear in the equatorial region (Esq) at heights between 90 and 130 km, mainly due to irregularities in the equatorial electrojet current. However, during the recovery phase of the October 2003 superstorm, an anomalous intensification of the ionospheric density that exceeded the normal ambient background values for local time and location was observed. The parameter fbEs rose to almost 7.5 MHz during this event, due to a type "c" blanketing sporadic layer (Esc), which is driven by wind shear. This result is discussed in terms of the atmosphere dynamics based on magnetic signature of the equatorial electrojet current using magnetometer data. Also, using data measured by sensors onboard the Geostationary Operational Environmental Satellite (GOES) 10 we analyze the possible influence of the solar flare-associated X-ray flux as an additional source of ionization.

Sporadic potassium layers and their connection to sporadic E layers in the mesopause region at Beijing, China

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Jing Jiao

2017-06-01

Full Text Available A double-laser beam lidar to measure potassium (K layer at Beijing (40.5° N, 116.2° E was successfully developed in 2010. The parameters of sporadic Ks layers and their distributions were given. The seasonal distribution of Ks occurrence frequency was obtained, with two maxima in July and January. The seasonal distributions of sporadic Es layer occurrence frequency over Beijing differ from those of Ks. However, the good correlation between Es and Ks in the case-by-case studies supports the mechanism of neutralization of metal ions in a descending Es layer.

The Prion Protein Preference of Sporadic Creutzfeldt-Jakob Disease Subtypes*

Science.gov (United States)

Klemm, Helen M. J.; Welton, Jeremy M.; Masters, Colin L.; Klug, Genevieve M.; Boyd, Alison; Hill, Andrew F.; Collins, Steven J.; Lawson, Victoria A.

2012-01-01

Sporadic Creutzfeldt-Jakob disease (CJD) is the most prevalent manifestation of the transmissible spongiform encephalopathies or prion diseases affecting humans. The disease encompasses a spectrum of clinical phenotypes that have been correlated with molecular subtypes that are characterized by the molecular mass of the protease-resistant fragment of the disease-related conformation of the prion protein and a polymorphism at codon 129 of the gene encoding the prion protein. A cell-free assay of prion protein misfolding was used to investigate the ability of these sporadic CJD molecular subtypes to propagate using brain-derived sources of the cellular prion protein (PrPC). This study confirmed the presence of three distinct sporadic CJD molecular subtypes with PrPC substrate requirements that reflected their codon 129 associations in vivo. However, the ability of a sporadic CJD molecular subtype to use a specific PrPC substrate was not determined solely by codon 129 as the efficiency of prion propagation was also influenced by the composition of the brain tissue from which the PrPC substrate was sourced, thus indicating that nuances in PrPC or additional factors may determine sporadic CJD subtype. The results of this study will aid in the design of diagnostic assays that can detect prion disease across the diversity of sporadic CJD subtypes. PMID:22930754

Localized Electron Heating by Strong Guide-Field Magnetic Reconnection

Science.gov (United States)

Guo, Xuehan; Sugawara, Takumichi; Inomoto, Michiaki; Yamasaki, Kotaro; Ono, Yasushi; UTST Team

2015-11-01

Localized electron heating of magnetic reconnection was studied under strong guide-field (typically Bt 15Bp) using two merging spherical tokamak plasmas in Univ. Tokyo Spherical Tokamak (UTST) experiment. Our new slide-type two-dimensional Thomson scattering system documented for the first time the electron heating localized around the X-point. The region of high electron temperature, which is perpendicular to the magnetic field, was found to have a round shape with radius of 2 [cm]. Also, it was localized around the X-point and does not agree with that of energy dissipation term Et .jt . When we include a guide-field effect term Bt / (Bp + αBt) for Et .jt where α =√{ (vin2 +vout2) /v∥2 } , the energy dissipation area becomes localized around the X-point, suggesting that the electrons are accelerated by the reconnection electric field parallel to the magnetic field and thermalized around the X-point. This work was supported by JSPS A3 Foresight Program ``Innovative Tokamak Plasma Startup and Current Drive in Spherical Torus,'' a Grant-in-Aid from the Japan Society for the Promotion of Science (JSPS) Fellows 15J03758.

Serum uric acid and lipid profiles in sporadic Creutzfeldt-Jakob disease.

Science.gov (United States)

Chen, Shuai; He, Shuang; Shang, Jun-Kui; Ma, Ming-Ming; Xu, Chang-Shui; Shi, Xiao-Hong; Zhang, Jie-Wen

2016-02-01

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disease affecting the central nervous system. Brain lipid homeostasis and oxidative stress seem to play an important role in the disease pathogenesis. But little was known whether serum lipids and uric acid (a natural antioxidant) levels changed in patients with prion disease. Here we retrospectively reviewed and compared the serum lipids and uric acid levels of 19 probable sporadic CJD patients and 26 healthy control subjects. We found that the serum uric acid levels in sporadic CJD patients were significantly lower than that in controls (P=0.01). Serum triglycerides, cholesterol, low-density lipoprotein (LDL), high-density lipoprotein (HDL), and apolipoprotein A1 (ApoA1) were similar in sporadic CJD patients and controls. However, LDL/HDL ratio was lower in sporadic CJD patients (P=0.003). The low serum uric acid and LDL/HDL ratio levels in sporadic CJD indicate that dysfunction in the lipid homeostasis and oxidative stress is associated with sporadic prion disease. Copyright © 2015 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

Temporal evolution of the HF-enhanced plasma line in sporadic E

International Nuclear Information System (INIS)

Djuth, F.T.; Gonzales, C.A.

1988-01-01

The high-power, high-frequency (HF) facility at Arecibo, Puerto Rico, has been used to study the excitation of Langmuir waves in mid-latitude sporadic E. Measurements of the temporal evolution of so-called HF-enhanced plasma line (HFPL) were made using the Arecibo 430-MHz radar. After HF turn-on in the plasma the HFPL exhibits a rapid growth phase followed by a quick overshoot. During periods of strong HFPL excitation the e-folding growth time of the HFPL power is typically approx-lt 20 μs, and the total overshoot period is ∼1 ms. On the basis of the current observations, mode conversion of the HF wave into Langmuir waves near HF reflection appears to be a promising mechanism for the production of Langmuir waves in sporadic E. Caviton formation at the critical layer is expected to accompany this process, and there is some evidence that the 430-MHz radar is probing the plasma in a region where density cavities of this nature form. While no specific explanation is offered for the HFPL overshoot, it appears that this phenomenon is fundamental to the Langmuir wave excitation process

Local strong solutions to the stochastic compressible Navier-Stokes system

Czech Academy of Sciences Publication Activity Database

Breit, D.; Feireisl, Eduard; Hofmanová, M.

2018-01-01

Roč. 43, č. 2 (2018), s. 313-345 ISSN 0360-5302 EU Projects: European Commission(XE) 320078 - MATHEF Institutional support: RVO:67985840 Keywords : compressible fluids * local strong solutions * Navier-Stokes system Subject RIV: BA - General Mathematics OBOR OECD: Pure mathematics Impact factor: 1.608, year: 2016 https://www.tandfonline.com/doi/full/10.1080/03605302.2018.1442476

Novel multiple endocrine neoplasia type 1 variations in patients with sporadic primary hyperparathyroidism

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S Birla

2016-01-01

Full Text Available Background and Objectives: Primary hyperparathyroidism (PHPT can occur either as a sporadic case or in association with syndromes such as multiple endocrine neoplasia. Multiple endocrine neoplasia type 1 (MEN1 is a rare autosomal-dominant disease resulting from mutations in MEN1 gene encoding a 621 amino acid long tumor suppressor protein “menin.” We report here the results of MEN1 screening in 31 patients diagnosed with sporadic PHPT. Materials and Methods: Diagnosis of sporadic PHPT was made when blood urea and serum creatinine were normal, serum parathyroid hormone was high, and parathyroid enlargement could be localized on ultrasound and/or parathyroid scan. A total of 31 patients and 50 healthy volunteers were recruited for molecular analysis after taking informed consent. Results: Major symptoms at presentation were bone pain, fatigue, muscle weakness, and renal stones. Molecular genetic analysis revealed the presence of two novel intronic variations, c. 913-79T>A and c. 784-129T>A which by human splicing finder are predicted to cause potential alteration of splicing by either activating an intronic cryptic acceptor site or converting a conserved exonic splicing silencer sequence to an exonic splicing enhancer site. Apart from these, two reported polymorphisms rs144677807 and rs669976 were seen only in patients and none of the controls. Other reported polymorphisms rs2071313 and rs654440 were identified both in controls and patients. Conclusions: This is the first study of MEN1 gene screening in sporadic PHPT in India reporting on the clinical and genetic findings, wherein two novel intronic variations c. 913-79T>A and c. 784-129T>A were identified showing their possible role in disease causation.

Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas

OpenAIRE

Chan, Sock Hoai; Lim, Weng Khong; Ishak, Nur Diana Binte; Li, Shao-Tzu; Goh, Wei Lin; Tan, Gek San; Lim, Kiat Hon; Teo, Melissa; Young, Cedric Ng Chuan; Malik, Simeen; Tan, Mann Hong; Teh, Jonathan Yi Hui; Chin, Francis Kuok Choon; Kesavan, Sittampalam; Selvarajan, Sathiyamoorthy

2017-01-01

Associations of sarcoma with inherited cancer syndromes implicate genetic predisposition in sarcoma development. However, due to the apparently sporadic nature of sarcomas, little attention has been paid to the role genetic susceptibility in sporadic sarcoma. To address this, we performed targeted-genomic sequencing to investigate the prevalence of germline mutations in known cancer-associated genes within an Asian cohort of sporadic sarcoma patients younger than 50 years old. We observed 13....

PET/CT comparing 68Ga-DOTATATE and other radiopharmaceuticals and in comparison with CT/MRI for the localization of sporadic metastatic pheochromocytoma and paraganglioma

International Nuclear Information System (INIS)

Janssen, Ingo; Chen, Clara C.; Millo, Corina M.; Herscovitch, Peter; Ling, Alexander; Taieb, David; Lin, Frank I.; Adams, Karen T.; Wolf, Katherine I.; Pacak, Karel; Fojo, Antonio T.; Buchmann, Inga; Kebebew, Electron

2016-01-01

Pheochromocytomas/paragangliomas (PPGLs) and their metastases are tumors that predominantly express somatostatin receptor 2 (SSR2). 68 Ga-DOTA(0)-Tyr(3)-octreotate ( 68 Ga-DOTATATE) is a PET radiopharmaceutical with both high and selective affinity for SSRs. The purpose of this study was to evaluate the utility of 68 Ga-DOTATATE in comparison with other specific and nonspecific radiopharmaceuticals recommended in the current guidelines for the localization of metastatic sporadic PPGL by PET/CT. This prospective study included 22 patients (15 men, 7 women; aged 50.0 ± 13.9 years) with confirmed metastatic PPGL, a negative family history for PPGL, and negative genetic testing, who underwent 68 Ga-DOTATATE, 18 F-fluoro-2-deoxy-D-glucose ( 18 F-FDG) PET/CT, and CT/MRI. Only 12 patients underwent an additional 18 F-fluorodihydroxyphenylalanine ( 18 F-FDOPA) PET/CT scan and only 11 patients underwent an additional 18 F-fluorodopamine ( 18 F-FDA) PET/CT scan. The rates of detection of metastatic lesions were compared among all the imaging studies. A composite of all functional and anatomical imaging studies served as the imaging comparator. 68 Ga-DOTATATE PET/CT showed a lesion-based detection rate of 97.6 % (95 % confidence interval, CI, 95.8 - 98.7 %). 18 F-FDG PET/CT, 18 F-FDOPA PET/CT, 18 F-FDA PET/CT, and CT/MRI showed detection rates of 49.2 % (CI 44.5 - 53.6 %; p < 0.01), 74.8 % (CI 69.0 - 79.9 %; p < 0.01), 77.7 % (CI 71.5 - 82.8 %; p < 0.01), and 81.6 % (CI 77.8 - 84.8 %; p < 0.01), respectively. The results of this study demonstrate the superiority of 68 Ga-DOTATATE PET/CT in the localization of sporadic metastatic PPGLs compared to all other functional and anatomical imaging modalities, and suggest modification of future guidelines towards this new imaging modality. (orig.)

Impaired proteasome function in sporadic amyotrophic lateral sclerosis.

Science.gov (United States)

Kabashi, Edor; Agar, Jeffrey N; Strong, Michael J; Durham, Heather D

2012-06-01

Abstract The ubiquitin-proteasome system, important for maintaining protein quality control, is compromised in experimental models of familial ALS. The objective of this study was to determine if proteasome function is impaired in sporadic ALS. Proteasomal activities and subunit composition were evaluated in homogenates of spinal cord samples obtained at autopsy from sporadic ALS and non-neurological control cases, compared to cerebellum as a clinically spared tissue. The level of 20S α structural proteasome subunits was assessed in motor neurons by immunohistochemistry. Catalysis of peptide substrates of the three major proteasomal activities was substantially reduced in ALS thoracic spinal cord, but not in cerebellum, accompanied by alterations in the constitutive proteasome machinery. Chymotrypsin-like activity was decreased to 60% and 65% of control in ventral and dorsal spinal cord, respectively, concomitant with reduction in the β5 subunit with this catalytic activity. Caspase- and trypsin-like activities were reduced to a similar extent (46% - 68% of control). Proteasome levels, although generally maintained, appeared reduced specifically in motor neurons by immunolabelling. In conclusion, there are commonalities of findings in sporadic ALS patients and presymptomatic SOD1-G93A transgenic mice and these implicate inadequate proteasome function in the pathogenesis of both familial and sporadic ALS.

Dietary factors and microsatellite instability in sporadic colon carcinomas

NARCIS (Netherlands)

Diergaarde, B.; Braam, H.; Muijen, van G.N.P.; Ligtenberg, M.J.L.; Kok, F.J.; Kampman, E.

2003-01-01

Microsatellite instability (MSI) occurs in 10-20% of the sporadic colon carcinomas and appears to be primarily due to alterations in hMLH1 and hMSH2. Little is known about the role of diet in MSI-related colon carcinogenesis. We used data from a Dutch population-based case-control study on sporadic

Dietary factors and microsatellite instability in sporadic colon carcinomas.

NARCIS (Netherlands)

Diergaarde, B.; Braam, H.; Muijen, G.N.P. van; Ligtenberg, M.J.L.; Kok, F.J.; Kampman, E.

2003-01-01

Microsatellite instability (MSI) occurs in 10-20% of the sporadic colon carcinomas and appears to be primarily due to alterations in hMLH1 and hMSH2. Little is known about the role of diet in MSI-related colon carcinogenesis. We used data from a Dutch population-based case-control study on sporadic

Visual art therapy in sporadic Creutzfeldt-Jakob disease: a case study.

Science.gov (United States)

Shrestha, Rajeet; Trauger-Querry, Barbara; Loughrin, Athena; Appleby, Brian S

2016-01-01

This paper describes the diagnostic and treatment utility of visual art therapy in a case of sporadic Creutzfeldt-Jakob disease. Visual art therapy was compared longitudinally with clinical and neuroimaging data over five-month period in an autopsy-confirmed case of sporadic Creutzfeldt-Jakob disease of MM2-cortical subtype. Art therapy sessions and content were useful in ascertaining neuropsychiatric symptoms during the course of her illness. Art therapy offered a unique emotional and cognitive outlet as illness progressed. Patients and families affected by sporadic Creutzfeldt-Jakob disease may benefit from art therapy despite the rapidly progressive nature of the illness. Art therapy can also be useful for assessment of patients with sporadic Creutzfeldt-Jakob disease by healthcare professionals.

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.

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Ulrike Esslinger

Full Text Available Dilated cardiomyopathy (DCM is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS to assess the contribution of missense variants to sporadic DCM.116,855 single nucleotide variants (SNVs were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01. The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01 demonstrated significant association for TTN variants only (P = 0.0085. All candidate genes but one (SLC39A8 exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033 or common (n = 36, P = 0.019 variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here.We identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology.

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

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Marocchi Alessandro

2008-05-01

Full Text Available Abstract Background Few genetic factors predisposing to the sporadic form of amyotrophic lateral sclerosis (ALS have been identified, but the pathology itself seems to be a true multifactorial disease in which complex interactions between environmental and genetic susceptibility factors take place. The purpose of this study was to approach genetic data with an innovative statistical method such as artificial neural networks to identify a possible genetic background predisposing to the disease. A DNA multiarray panel was applied to genotype more than 60 polymorphisms within 35 genes selected from pathways of lipid and homocysteine metabolism, regulation of blood pressure, coagulation, inflammation, cellular adhesion and matrix integrity, in 54 sporadic ALS patients and 208 controls. Advanced intelligent systems based on novel coupling of artificial neural networks and evolutionary algorithms have been applied. The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis Results Advanced intelligent systems based on novel coupling of artificial neural networks and evolutionary algorithms have been applied. The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis. An unexpected discovery of a strong genetic background in sporadic ALS using a DNA multiarray panel and analytical processing of the data with advanced artificial neural networks was found. The predictive accuracy obtained with Linear Discriminant Analysis and Standard Artificial Neural Networks ranged from 70% to 79% (average 75.31% and from 69.1 to 86.2% (average 76.6% respectively. The corresponding value obtained with Advanced Intelligent Systems reached an average of 96.0% (range 94.4 to 97.6%. This latter approach allowed the identification of seven genetic variants essential to differentiate cases from controls: apolipoprotein E arg

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

Science.gov (United States)

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

2008-05-30

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

Observations of neutral winds, wind shears, and wave structure during a sporadic-E/QP event

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M. F. Larsen

2005-10-01

Full Text Available The second Sporadic E Experiment over Kyushu (SEEK-2 was carried out on 3 August 2002, during an active sporadic-E event that also showed quasi-periodic (QP echoes. Two rockets were launched into the event from Kagoshima Space Center in southern Japan 15 min apart. Both carried a suite of instruments, but the second rocket also released a trimethyl aluminum (TMA trail to measure the neutral winds and turbulence structure. In a number of earlier measurements in similar conditions, large winds and shears that were either unstable or close to instability were observed in the altitude range where the ionization layer occurred. The SEEK-2 wind measurements showed similar vertical structure, but unlike earlier experiments, there was a significant difference between the up-leg and down-leg wind profiles. In addition, wave or billow-like fluctuations were evident in the up-leg portion of the trail, while the lower portion of the down-leg trail was found to have extremely strong turbulence that led to a rapid break-up of the trail. The large east-west gradient in the winds and the strong turbulence have not been observed before. The wind profiles and shears, as well as the qualitative characteristics of the strong turbulence are presented, along with a discussion of the implications of the dynamical features. Keywords. Ionosphere (Mid-latitude ionosphere; Ionospheric irregularities; Electric field and currents

Planetary and tidal wave-type oscillations in the ionospheric sporadic E layers over Tehran region

Science.gov (United States)

Karami, K.; Ghader, S.; Bidokhti, A. A.; Joghataei, M.; Neyestani, A.; Mohammadabadi, A.

2012-04-01

It is believed that in the lower ionosphere, particularly in the ionospheric sporadic E (Es) layers (90-130 km), the planetary and tidal wave-type oscillations in the ionized component indicate the planetary and tidal waves in the neutral atmosphere. In the present work, the presence of wave-type oscillations, including planetary and tidal waves in the ionospheric sporadic E layers over Tehran region is examined. Data measured by a digital ionosonde at the ionospheric station of the Institute of Geophysics, University of Tehran, from July 2006 to June 2007 are used to investigate seasonal variations of planetary and tidal waves activities. For the purpose of accurate comparison between different seasons, wavelet transform is applied to time series of foEs and h‧Es, namely, the critical frequency and virtual height of Es layers, respectively. The results show that the sporadic E layers over Tehran region are strongly under the influence of upward propagation of waves from below. More specifically, among diverse range of periodicities in the sporadic E layers, we found that diurnal (24 hours) and semidiurnal (12 hours) oscillations in all seasons for both parameters. Moreover, terdiurnal (8 hours) tide-like variation is observed during spring and summer for foEs parameter and summer and winter for h‧Es. Furthermore, the results show that diurnal tidal waves obtain their maximum activities during autumn and winter seasons, and their activities decrease during the late spring and summer. In addition, periods of about 2, 4, 6, 10, 14, and 16 days in our observation verifies the hypothesis of upward propagation of planetary waves from lower atmosphere to the ionosphere. Moreover, planetary waves have their maximum activities during equinox.

Legionnaires’ Disease: Clinicoradiological Comparison of Sporadic Versus Outbreak Cases

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Hafiz Rizwan Talib Hashmi

2017-06-01

Full Text Available Background: In 2015, New York City experienced the worst outbreak of Legionnaires’ disease in the history of the city. We compare patients seen during the 2015 outbreak with sporadic cases of Legionella during the past 5 years. Methods: We conducted a retrospective chart review of 90 patients with Legionnaires’ disease, including sporadic cases of Legionella infection admitted from 2010 to 2015 (n = 55 and cases admitted during the 2015 outbreak (n = 35. Results: We saw no significant differences between the 2 groups regarding demographics, smoking habits, alcohol intake, underlying medical disease, or residence type. Univariate and multivariate analyses showed that patients with sporadic case of Legionella had a longer stay in the hospital and intensive care unit as well as an increased stay in mechanical ventilation. Short-term mortality, discharge disposition, and most clinical parameters did not differ significantly between the 2 groups. Conclusions: We found no specific clinicoradiological characteristics that could differentiate sporadic from epidemic cases of Legionella . Early recognition and high suspicion for Legionnaires’ disease are critical to provide appropriate treatment. Cluster of cases should increase suspicion for an outbreak.

Three-qutrit correlations violate local realism more strongly than those of three qubits

International Nuclear Information System (INIS)

Kaszlikowski, Dagomir; Gosal, Darwin; Ling, E.J.; Oh, C.H.; Kwek, L.C.; Zukowski, Marek

2002-01-01

We present numerical data showing that three-qutrit correlations for a pure state, which is not maximally entangled, violate local realism more strongly than three-qubit correlations. The strength of violation is measured by the minimal amount of noise that must be admixed to the system so that the noisy correlations have a local and realistic model

Azimuthal Charged-Particle Correlations and Possible Local Strong Parity Violation

Czech Academy of Sciences Publication Activity Database

Abelev, B. I.; Aggarwal, M. M.; Ahammed, Z.; Anderson, B. D.; Arkhipkin, D.; Averichev, G. S.; Balewski, J.; Barannikova, O.; Barnby, L. S.; Baudot, J.; Baumgart, S.; Beavis, D.R.; Bellwied, R.; Benedosso, F.; Betancourt, M.J.; Betts, R. R.; Bhasin, A.; Bhati, A.K.; Bichsel, H.; Bielčík, Jaroslav; Bielčíková, Jana; Biritz, B.; Bland, L.C.; Bombara, M.; Bonner, B. E.; Botje, M.; Bouchet, J.; Braidot, E.; Brandin, A. V.; Bruna, E.; Bueltmann, S.; Burton, T. P.; Bysterský, Michal; Cai, X.Z.; Caines, H.; Sanchez, M.C.D.; Catu, O.; Cebra, D.; Cendejas, R.; Cervantes, M.C.; Chajecki, Z.; Chaloupka, Petr; Chattopadhyay, S.; Chen, H.F.; Chen, J.H.; Cheng, J.; Cherney, M.; Chikanian, A.; Choi, K.E.; Christie, W.; Clarke, R.F.; Codrington, M.J.M.; Corliss, R.; Cormier, T.M.; Coserea, R. M.; Cramer, J. G.; Crawford, H. J.; Das, D.; Dash, S.; Daugherity, M.; De Silva, L.C.; Dedovich, T. G.; DePhillips, M.; Derevschikov, A.A.; de Souza, R.D.; Didenko, L.; Djawotho, P.; Dunlop, J.C.; Mazumdar, M.R.D.; Edwards, W.R.; Efimov, L.G.; Elhalhuli, E.; Elnimr, M.; Emelianov, V.; Engelage, J.; Eppley, G.; Erazmus, B.; Estienne, M.; Eun, L.; Fachini, P.; Fatemi, R.; Fedorisin, J.; Feng, A.; Filip, P.; Finch, E.; Fine, V.; Fisyak, Y.; Gagliardi, C. A.; Gaillard, L.; Ganti, M. S.; Gangaharan, D.R.; Garcia-Solis, E.J.; Geromitsos, A.; Geurts, F.; Ghazikhanian, V.; Ghosh, P.; Gorbunov, Y.N.; Gordon, A.; Grebenyuk, O.; Grosnick, D.; Grube, B.; Guertin, S.M.; Guimaraes, K.S.F.F.; Gupta, A.; Gupta, N.; Guryn, W.; Haag, B.; Hallman, T.J.; Hamed, A.; Harris, J.W.; He, W.; Heinz, M.; Heppelmann, S.; Hippolyte, B.; Hirsch, A.; Hjort, E.; Hoffman, A.M.; Hoffmann, G.W.; Hofman, D.J.; Hollis, R.S.; Huang, H.Z.; Humanic, T.J.; Igo, G.; Iordanova, A.; Jacobs, P.; Jacobs, W.W.; Jakl, Pavel; Jena, C.; Jin, F.; Jones, C.L.; Jones, P.G.; Joseph, J.; Judd, E.G.; Kabana, S.; Kajimoto, K.; Kang, K.; Kapitán, Jan; Keane, D.; Kechechyan, A.; Kettler, D.; Khodyrev, V.Yu.; Kikola, D.P.; Kiryluk, J.; Kisiel, A.; Klein, S.R.; Knospe, A.G.; Kocoloski, A.; Koetke, D.D.; Kopytine, M.; Korsch, W.; Kotchenda, L.; Kushpil, Vasilij; Kravtsov, P.; Kravtsov, V.I.; Krueger, K.; Krus, M.; Kuhn, C.; Kumar, L.; Kurnadi, P.; Lamont, M.A.C.; Landgraf, J.M.; LaPointe, S.; Lauret, J.; Lebedev, A.; Lednický, Richard; Lee, Ch.; Lee, J.H.; Leight, W.; LeVine, M.J.; Li, N.; Li, C.; Li, Y.; Lin, G.; Lindenbaum, S.J.; Lisa, M.A.; Liu, F.; Liu, J.; Liu, L.; Ljubicic, T.; Llope, W.J.; Longacre, R.S.; Love, W.A.; Lu, Y.; Ludlam, T.; Ma, G.L.; Ma, Y.G.; Mahapatra, D.P.; Majka, R.; Mall, O.I.; Mangotra, L.K.; Manweiler, R.; Margetis, S.; Markert, C.; Matis, H.S.; Matulenko, Yu.A.; McShane, T.S.; Meschanin, A.; Milner, R.; Minaev, N.G.; Mioduszewski, S.; Mischke, A.; Mitchell, J.; Mohanty, B.; Morozov, D.A.; Munhoz, M. G.; Nandi, B.K.; Nattrass, C.; Nayak, T. K.; Nelson, J.M.; Netrakanti, P.K.; Ng, M.J.; Nogach, L.V.; Nurushev, S.B.; Odyniec, G.; Ogawa, A.; Okada, H.; Okorokov, V.; Olson, D.; Pachr, M.; Page, B.S.; Pal, S.K.; Pandit, Y.; Panebratsev, Y.; Panitkin, S.Y.; Pawlak, T.; Peitzmann, T.; Perevoztchikov, V.; Perkins, C.; Peryt, W.; Phatak, S.C.; Poljak, N.; Poskanzer, A.M.; Potukuchi, B.V.K.S.; Prindle, D.; Pruneau, C.; Pruthi, N.K.; Putschke, J.; Raniwala, R.; Raniwala, S.; Ray, R.L.; Redwine, R.; Reed, R.; Ridiger, A.; Ritter, H.G.; Roberts, J.B.; Rogachevskiy, O.V.; Romero, J.L.; Rose, A.; Roy, C.; Ruan, L.; Russcher, M.J.; Sahoo, R.; Sakrejda, I.; Sakuma, T.; Salur, S.; Sandweiss, J.; Sarsour, M.; Schambach, J.; Scharenberg, R.P.; Schmitz, N.; Seger, J.; Selyuzhenkov, I.; Seyboth, P.; Shabetai, A.; Shahaliev, E.; Shao, M.; Sharma, M.; Shi, S.S.; Shi, X.H.; Sichtermann, E.P.; Simon, F.; Singaraju, R.N.; Skoby, M.J.; Smirnov, N.; Snellings, R.; Sorensen, P.; Sowinski, J.; Spinka, H.M.; Srivastava, B.; Stadnik, A.; Stanislaus, T.D.S.; Staszak, D.; Strikhanov, M.; Stringfellow, B.; Suaide, A.A.P.; Suarez, M.C.; Subba, N.L.; Šumbera, Michal; Sun, X.M.; Sun, Y.; Sun, Z.; Surrow, B.; Symons, T.J.M.; de Toledo, A. S.; Takahashi, J.; Tang, A.H.; Tang, Z.; Tarnowsky, T.; Thein, D.; Thomas, J.H.; Tian, J.; Timmins, A.R.; Timoshenko, S.; Tokarev, M. V.; Trainor, T.A.; Tram, V.N.; Trattner, A.L.; Trentalange, S.; Tribble, R. E.; Tsai, O.D.; Ulery, J.; Ullrich, T.; Underwood, D.G.; Van Buren, G.; van Leeuwen, M.; Vander Molen, A.M.; Vanfossen, J.A.; Varma, R.; Vasconcelos, G.S.M.; Vasilevski, I.M.; Vasiliev, A. N.; Videbaek, F.; Vigdor, S.E.; Viyogi, Y. P.; Vokal, S.; Voloshin, S.A.; Wada, M.; Walker, M.; Wang, F.; Wang, G.; Wang, J.S.; Wang, Q.; Wang, X.; Wang, X.L.; Wang, Y.; Webb, G.; Webb, J.C.; Westfall, G.D.; Whitten, C.; Wieman, H.; Wissink, S.W.; Witt, R.; Wu, Y.; Xie, W.; Xu, N.; Xu, Q.H.; Xu, Y.; Xu, Z.; Yang, Y.; Yepes, P.; Yip, K.; Yoo, I.K.; Yue, Q.; Zawisza, M.; Zbroszczyk, H.; Zhan, W.; Zhang, S.; Zhang, W.M.; Zhang, X.P.; Zhang, Y.; Zhang, Z.P.; Zhao, Y.; Zhong, C.; Zhou, J.; Zhu, X.; Zoulkarneev, R.; Zoulkarneeva, Y.; Zuo, J.X.; Tlustý, David

2009-01-01

Roč. 103, č. 25 (2009), 251601/1-251601/7 ISSN 0031-9007 R&D Projects: GA ČR GA202/07/0079; GA MŠk LC07048; GA MŠk LA09013 Institutional research plan: CEZ:AV0Z10480505; CEZ:AV0Z10100502 Keywords : heavy-ion collisions * local parity violation * strong interaction Subject RIV: BG - Nuclear, Atomic and Molecular Physics, Colliders Impact factor: 7.328, year: 2009

Spontaneous electromagnetic emission from a strongly localized plasma flow.

Science.gov (United States)

Tejero, E M; Amatucci, W E; Ganguli, G; Cothran, C D; Crabtree, C; Thomas, E

2011-05-06

Laboratory observations of electromagnetic ion-cyclotron waves generated by a localized transverse dc electric field are reported. Experiments indicate that these waves result from a strong E×B flow inhomogeneity in a mildly collisional plasma with subcritical magnetic field-aligned current. The wave amplitude scales with the magnitude of the applied radial dc electric field. The electromagnetic signatures become stronger with increasing plasma β, and the radial extent of the power is larger than that of the electrostatic counterpart. Near-Earth space weather implications of the results are discussed.

Sporadic colorectal polyps and mismatch repair proteins

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Mahsa Molaei

2011-01-01

Full Text Available Background: Colorectal cancers often arise from benign polyps. Adenomatous polyps and serrated polyps progress step by step to adenocarcinoma and change into malignant cancers. Genetic and epigenetic changes have correlation with specific stages of polyp-adenocarcinoma progression and colorectal cancer histopathological changes. Aims: In this study we used immunohistochemistry (IHC staining in sporadic colorectal polyps to assay functional status of MLH1, MSH2, MSH6, and PMS2 proteins, to track genetic/epigenetic roles of this issue in our patients. Materials and Methods: In this cross-sectional study we assessed all patients who were admitted with sporadic colorectal polyps and underwent polypectomy in endoscopy department during 2004-2008. Result: IHC results were abnormal in 6.8% cases for MLH1, in 4.5% cases for MSH2, in 3% for MSH6, and in 4.8% for PMS2. In all cases with abnormal PMS2, MLH1 was also reported as abnormal. Same results were reported for abnormal MSH2, which is accompanied with abnormal MSH6 in all cases (P values < 0.001. There is no significant difference between IHC staining results, gender, dysplasia grade, adenomatous type, and invasion. On the other hand, there was significant difference between IHC staining results, polyp location, and mean age of patients. The same significant difference was between adenomatous polyps and serrated adenoma polyps by MLH1 and PMS2 (P values < 0.05. Conclusion: According to our findings, maybe MMR dysfunction is the cause of sporadic colorectal polyps in younger age and its increasing risk of dysplasia progression and malignancy progression is only in serrated adenoma. Sporadic polyps in left colon had a higher risk to progress to malignancies, and abnormal IHC staining for MLH1 and PMS2 in serrated polyps is much more than in other adenomatous polyps.

The Role of Iron In Sporadic E Layers

Science.gov (United States)

Vondrak, T.; Woodcock, K. R. I.; Plane, J. M. C.

Sporadic E layers in the lower thermosphere are mostly composed of metallic ions, of which Fe+ is the most abundant. Because dielectric recombination (Fe+ + elec- tron) is very slow, the lifetime of Fe+ above about 100 km is at least several days. However, below this height molecular ions such as FeO+, FeO2+ and FeN2+ form in- creasingly rapidly through reactions with O3, O2 and N2, respectively. These undergo rapid dissociative recombination with electrons, causing Fe+ to be neutralised increas- ingly rapidly as a sporadic E layer descends. Indeed, this is the most likely mechanism for the formation of the sporadic neutral Fe layers that are observed by lidar. However, atomic O plays a very important role in reducing these molecular ions back to Fe+, competing with dissociative recombination and thus slowing the rate at which Fe+ is neutralised and a sporadic E layer dissipates. This paper will discuss a laboratory and modelling study of the reactions of FeO+, FeO2+ and FeN2+ with atomic O. These reactions were studied (for the first time) in a fast flow tube, using the pulsed laser ablation of a rotating iron rod as the source of Fe+ ions in the upstream section of the tube. Reactants were then added to produce molecular ions, and atomic O further downstream through a movable injector. Fe+ and the molecular ions were detected at the downstream end of the tube using a two-stage quadrupole mass spectrometer. The spectroscopy of the FeO+ ion, observed by laser induced fluorescence, will also be discussed as a candidate for future ground-based lidar studies of the ion chemistry of the lower thermosphere.

Sporadic simple groups and quotient singularities

International Nuclear Information System (INIS)

Cheltsov, I A; Shramov, C A

2013-01-01

We show that if a faithful irreducible representation of a central extension of a sporadic simple group with centre contained in the commutator subgroup gives rise to an exceptional (resp. weakly exceptional but not exceptional) quotient singularity, then that simple group is the Hall-Janko group (resp. the Suzuki group)

Local condensate depletion at trap center under strong interactions

Science.gov (United States)

Yukalov, V. I.; Yukalova, E. P.

2018-04-01

Cold trapped Bose-condensed atoms, interacting via hard-sphere repulsive potentials are considered. Simple mean-field approximations show that the condensate distribution inside a harmonic trap always has the shape of a hump with the maximum condensate density occurring at the trap center. However, Monte Carlo simulations at high density and strong interactions display the condensate depletion at the trap center. The explanation of this effect of local condensate depletion at trap center is suggested in the frame of self-consistent theory of Bose-condensed systems. The depletion is shown to be due to the existence of the anomalous average that takes into account pair correlations and appears in systems with broken gauge symmetry.

Numerical prediction of local transitional features of turbulent forced gas flows in circular tubes with strong heating

International Nuclear Information System (INIS)

Ezato, Koichiro; Kunugi, Tomoaki; Shehata, A.M.; McEligot, D.M.

1997-03-01

Previous numerical simulation for the laminarization due to heating of the turbulent flow in pipe were assessed by comparison with only macroscopic characteristics such as heat transfer coefficient and pressure drop, since no experimental data on the local distributions of the velocity and temperature in such flow situation was available. Recently, Shehata and McEligot reported the first measurements of local distributions of velocity and temperature for turbulent forced air flow in a vertical circular tube with strongly heating. They carried out the experiments in three situations from turbulent flow to laminarizing flow according to the heating rate. In the present study, we analyzed numerically the local transitional features of turbulent flow evolving laminarizing due to strong heating in their experiments by using the advanced low-Re two-equation turbulence model. As the result, we successfully predicted the local distributions of velocity and temperature as well as macroscopic characteristics in three turbulent flow conditions. By the present study, a numerical procedure has been established to predict the local characteristics such as velocity distribution of the turbulent flow with large thermal-property variation and laminarizing flow due to strong heating with enough accuracy. (author). 60 refs

Strain localization at the margins of strong lithospheric domains: insights from analogue models

NARCIS (Netherlands)

Calignano, Elisa; Sokoutis, Dimitrios; Willingshofer, Ernst; Gueydan, Frederic; Cloetingh, Sierd

The lateral variation of the mechanical properties of continental lithosphere is an important factor controlling the localization of deformation and thus the deformation history and geometry of intra-plate mountain belts. A series of three-layer lithospheric-scale analog models, with a strong domain

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.

Charging dynamics and strong localization of a two-dimensional electron cloud

International Nuclear Information System (INIS)

Dianoux, R; Smilde, H J H; Marchi, F; Buffet, N; Mur, P; Comin, F; Chevrier, J

2007-01-01

The dynamics of charge injection in silicon nanocrystals embedded in a silicon dioxide matrix is studied using electrostatic force microscopy. We show that the presence of silicon nanocrystals with a density of 10 11 cm -2 is essential for strong localization of charges, and results in exceptional charge retention properties compared to nanocrystal-free SiO 2 samples. In both systems, a logarithmic dependence of the diameter of the charged area on the injection time is experimentally observed on a timescale between 0.1 and 10 s (voltage≤10 V). A field-emission injection, limited by Coulomb blockade and a lateral charge spreading due to a repulsive radial electric field are used to model the sample charging. Once the tip is retracted, the electron cloud is strongly confined in the nanocrystals and remains static

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.

Early Detection of Sporadic Pancreatic Cancer

Science.gov (United States)

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

2015-01-01

Abstract 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

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

International Nuclear Information System (INIS)

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

2003-01-01

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

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

Energy Technology Data Exchange (ETDEWEB)

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

2003-02-01

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

Cervical dystonia: about familial and sporadic cases in 88 patients

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Carlos Henrique F. Camargo

2014-02-01

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

Genetic Relatedness among Nontypeable Pneumococci Implicated in Sporadic Cases of Conjunctivitis

OpenAIRE

Barker, Jason H.; Musher, Daniel M.; Silberman, Ronald; Phan, Hoang M.; Watson, David A.

1999-01-01

Nontypeable Streptococcus pneumoniae is a common cause of epidemic conjunctivitis. A previous molecular fingerprinting study identified a clone of nontypeable pneumococcus that was responsible for a recent outbreak of conjunctivitis. In the present study, we examined the extent to which pneumococci that cause sporadic cases of conjunctivitis are related to this epidemic strain. Using arbitrarily primed BOX-PCR, we have determined that, of 10 nontypeable pneumococci causing sporadic conjunctiv...

Difference in aneurysm characteristics between patients with familial and sporadic aneurysmal subarachnoid haemorrhage

NARCIS (Netherlands)

Mensing, Liselore A.; Rinkel, Gabriel J E; Vlak, Monique H M; Van Der Schaaf, Irene C.; Ruigrok, Ynte M.

2016-01-01

Object Patients with familial intracranial aneurysms (IA) have a higher risk of rupture than patients with sporadic IA. We compared geometric and morphological risk factors for aneurysmal rupture between patients with familial and sporadic aneurysmal subarachnoid hemorrhage (aSAH) to analyse if

Molecular pathogenesis of sporadic prion diseases in man

Science.gov (United States)

Safar, Jiri G.

2012-01-01

The yeast, fungal and mammalian prions determine heritable and infectious traits that are encoded in alternative conformations of proteins. They cause lethal sporadic, familial and infectious neurodegenerative conditions in man, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), kuru, sporadic fatal insomnia (SFI) and likely variable protease-sensitive prionopathy (VPSPr). The most prevalent of human prion diseases is sporadic (s)CJD. Recent advances in amplification and detection of prions led to considerable optimism that early and possibly preclinical diagnosis and therapy might become a reality. Although several drugs have already been tested in small numbers of sCJD patients, there is no clear evidence of any agent’s efficacy. Therefore, it remains crucial to determine the full spectrum of sCJD prion strains and the conformational features in the pathogenic human prion protein governing replication of sCJD prions. Research in this direction is essential for the rational development of diagnostic as well as therapeutic strategies. Moreover, there is growing recognition that fundamental processes involved in human prion propagation – intercellular induction of protein misfolding and seeded aggregation of misfolded host proteins – are of far wider significance. This insight leads to new avenues of research in the ever-widening spectrum of age-related human neurodegenerative diseases that are caused by protein misfolding and that pose a major challenge for healthcare. PMID:22421210

Radio tomographic imaging of sporadic-E layers during SEEK-2

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P. A. Bernhardt

2005-10-01

Full Text Available During the SEEK-2 Rocket Campaign in August 2002, a Dual Band Beacon (DBB transmitting to Ground Receivers provided unique data on E-Region electron densities. Information from two rocket beacons and four ground receivers yielded multiple samples of E-region horizontal and vertical variations. The radio beacon measurements were made at four sites (Uchinoura, Tarumizu, Tanegashima, Takazaki in Japan for two rockets (S310-31 and S310-32 launched by the Institute of Space and Aeronautical Science (ISAS. Analysis was completed for four sets of beacon data to provide electron density images of sporadic-E layers. Signals from the two-frequency beacons on the SEEK-2 rockets were processed to yield total electron content (TEC data that was converted into electron density measurements. Wide variations in layer structures were detected. These included horizontal sporadic-E variations, vertical profiles of double, single, and weak layers. The radio beacon measurements were shown to be in agreement with the in-situ SEEK-2 sensors. The first tomographic image of a sporadic-E layer was produced from the data. The rocket beacon technique was shown to be an excellent tool to study sporadic-E layers because absolute TEC accuracy of 0.01 TEC Units can be easily obtained and, with proper receiver placement, electron density images can be produced using computerized ionospheric tomography with better than 1km horizontal and vertical resolution. Keywords. Ionospheric irregularities – Instruments and techniques – Mid-latitude ionosphere

Strong contribution of immigration to local population regulation: evidence from a migratory passerine.

Science.gov (United States)

Schaub, Michael; Jakober, Hans; Stauber, Wolfgang

2013-08-01

A mechanistic understanding of the dynamics of populations requires knowledge about the variation of the underlying demographic rates and about the reasons for their variability. In geographically open populations, immigration is often necessary to prevent declines, but little is known about whether immigration can contribute to its regulation. We studied the dynamics of a Red-backed Shrike population (Lanius collurio) over 36 years in Germany with a Bayesian integrated population model. We estimated mean and temporal variability of population sizes, productivity, apparent survival, and immigration. We assessed how strongly the demographic rates were correlated with population growth to understand the demographic reasons of population change and how strongly the demographic rates were correlated with population size to identify possible density-dependent mechanisms. The shrike population varied between 35 and 74 breeding pairs but did not show a significant trend in population size over time (growth rate 1.002 +/- 0.001 [mean +/- SD]). Apparent survival of females (juveniles 0.06 +/- 0.01; adults 0.37 +/- 0.03) was lower than that of males (juveniles 0.10 +/- 0.01; adults 0.44 +/- 0.02). Immigration rates were substantial and higher in females (0.56 +/- 0.02) than in males (0.43 +/- 0.02), and average productivity was 2.76 +/- 0.14. Without immigration, the Red-backed Shrike population would have declined strongly. Immigration was the strongest driver for the number of females while local recruitment was the most important driver for the number of males. Immigration of both sexes and productivity, but not local recruitment and survival, were subject to density dependence. Density-dependent productivity was not effectively regulating the local population but may have contributed to regulate shrike populations at larger spatial scales. These findings suggest that immigration is not only an important component to prevent a geographically open population from decline

PRKAG3 polymorphisms associated with sporadic Wolff–Parkinson–White syndrome among a Taiwanese population

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Ken-Pen Weng

2016-12-01

Conclusion: This study shows that PRKAG3-230 may be associated with sporadic WPW syndrome among a Taiwanese population. Further studies are warranted to elucidate the role of mutations in AMPK subunit genes other than PRKAG3-230 in sporadic WPW syndrome.

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

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Melissa S Rotunno

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.

Thunderstorm related variations of the ionospheric sporadic E layer over Rome

Science.gov (United States)

Barta, Veronika; Scotto, Carlo; Pietrella, Marco

2013-04-01

Meteorological events in the lower atmosphere can affect the ionosphere by electromagnetic and mechanical processes. One type of the latter ones is the internal atmospheric gravity waves (AGWs) which can often be generated by thunderstorms. According to a Superposed Epoch Analyses (SEA) using the time series of the critical frequency (foEs) and virtual height (h'Es) of the sporadic E layer and WWLLN (World Wide Lightning Location Network) lightning data over the ionospheric station of Rome (41.9° 12.5°) there is a statistically significant decrease in the foEs of the sporadic E layer after the time of the lightnings. This may indicate a sudden decrease in the electron density of the sporadic E layer associated to lightnings. In order to understand the physical explanation for this phenomenon further studies are performed as follows: a SEA for different seasons and for daytime - nightime lightnings separately. Direction of arrival of thunderstorms is also taken into account.

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

International Nuclear Information System (INIS)

Rosemann, Michael; Kuosaite, Virginija; Nathrath, Michaela; Atkinson, Michael J.

2002-01-01

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)

Comparing Sporadic and Outbreak-associated Foodborne Illness

Centers for Disease Control (CDC) Podcasts

2016-11-04

Dr. Eric Ebel, a veterinarian and risk analyst with USDA’s Food Safety and Inspection Service, discusses his article on sporadic and outbreak-associated cases of foodborne illness.  Created: 11/4/2016 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 11/4/2016.

Brain sonography in African infants with complicated sporadic ...

African Journals Online (AJOL)

Background: To determine the structural findings in brain sonography of African infants with complicated sporadic bacterial meningitis. Materials and Methods: Retrospective assessment of medical records of patients who underwent brain sonography on account of complicated bacterial meningitis. The brain sonography ...

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

Directory of Open Access Journals (Sweden)

G. A. Lehmacher

2015-03-01

Full Text Available 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.

Strong Local-Nonlocal Coupling for Integrated Fracture Modeling

Energy Technology Data Exchange (ETDEWEB)

Littlewood, David John [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Silling, Stewart A. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Mitchell, John A. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Seleson, Pablo D. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Bond, Stephen D. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Parks, Michael L. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Turner, Daniel Z. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Burnett, Damon J. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Ostien, Jakob [Sandia National Lab. (SNL-CA), Livermore, CA (United States); Gunzburger, Max [Florida State Univ., Tallahassee, FL (United States)

2015-09-01

Peridynamics, a nonlocal extension of continuum mechanics, is unique in its ability to capture pervasive material failure. Its use in the majority of system-level analyses carried out at Sandia, however, is severely limited, due in large part to computational expense and the challenge posed by the imposition of nonlocal boundary conditions. Combined analyses in which peridynamics is em- ployed only in regions susceptible to material failure are therefore highly desirable, yet available coupling strategies have remained severely limited. This report is a summary of the Laboratory Directed Research and Development (LDRD) project "Strong Local-Nonlocal Coupling for Inte- grated Fracture Modeling," completed within the Computing and Information Sciences (CIS) In- vestment Area at Sandia National Laboratories. A number of challenges inherent to coupling local and nonlocal models are addressed. A primary result is the extension of peridynamics to facilitate a variable nonlocal length scale. This approach, termed the peridynamic partial stress, can greatly reduce the mathematical incompatibility between local and nonlocal equations through reduction of the peridynamic horizon in the vicinity of a model interface. A second result is the formulation of a blending-based coupling approach that may be applied either as the primary coupling strategy, or in combination with the peridynamic partial stress. This blending-based approach is distinct from general blending methods, such as the Arlequin approach, in that it is specific to the coupling of peridynamics and classical continuum mechanics. Facilitating the coupling of peridynamics and classical continuum mechanics has also required innovations aimed directly at peridynamic models. Specifically, the properties of peridynamic constitutive models near domain boundaries and shortcomings in available discretization strategies have been addressed. The results are a class of position-aware peridynamic constitutive laws for

Local Self-Government in Central and Eastern Europe: a Strong and Independent Local-Level Management Tool or Just a Paper Tiger?

Directory of Open Access Journals (Sweden)

Vjekoslav Bratić

2008-06-01

Full Text Available The onset of the independence process in Central and Eastern European (CEE countries during the 1990s was marked by tremendous optimism and a declared wish for stronger fiscal decentralisation and the transfer of powers, responsibilities and resources to the units of local and regional self-government that were supposed to be closest to citizens in resolving their daily problems. However, this has not happened in these countries, at least not according to the basic financial decentralisation indicators, and this is the main thesis of this work. Despite numerous adjustments made in the local self-government organisation in the observed countries, an optimum level of local and regional self-government organisation has still not been achieved. The units of local and regional self-government are still heavily dependent on, or rather restricted by, the strong central governments, which reduces their autonomy and their influence on the local social and economic development.

Genetic overlap between apparently sporadic motor neuron diseases

NARCIS (Netherlands)

van Blitterswijk, Marka; Vlam, Lotte; van Es, Michael A.; van der Pol, W.-Ludo; Hennekam, Eric A. M.; Dooijes, Dennis; Schelhaas, Helenius J.; van der Kooi, Anneke J.; de Visser, Marianne; Veldink, Jan H.; van den Berg, Leonard H.

2012-01-01

Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or spasticity. We compared mutation frequencies in genes known to be associated with MNDs between patients with apparently sporadic PMA and

Neuroendocrine Differentiation in Sporadic CRC and Hereditary Nonpolyosis Colorectal Cancer

Directory of Open Access Journals (Sweden)

M. H. Sun

2004-01-01

Full Text Available Extent neuroendocrine differentiation can be encountered in many human neoplasm derived from different organs and systems using immunohistochemistry and ultrastructural techniques. The tumor cells' behaviors resemble those of neurons and neuroendocrine cells. The presence of neuroendocrine differentiation reputedly appears to be associated with a poorer prognosis than the adenocarcinoma counterparts in sporadic human neoplasm. In this review the neuroendocrine carcinoma and the adenocarcinoma with neuroendocrine differentiation of colon and rectum both in sporadic colorectal carcinoma and the hereditary nonpolyposis colorectal cancer, the relationship of neuroendocrine differentiation and some possible molecular pathways in tumorogenesis of colorectal cancer will be discussed. Possible treatment strategy will also be addressed.

Early Detection of Sporadic Pancreatic Cancer

Science.gov (United States)

Chari, Suresh T.; Kelly, Kimberly; Hollingsworth, Michael A.; Thayer, Sarah P.; Ahlquist, David A.; Andersen, Dana K.; Batra, Surinder K.; Brentnall, Teresa A.; Canto, Marcia; Cleeter, Deborah F.; Firpo, Matthew A.; Gambhir, Sanjiv Sam; Go, Vay Liang W.; Hines, O. Joe; Kenner, Barbara J.; Klimstra, David S.; Lerch, Markus M.; Levy, Michael J.; Maitra, Anirban; Mulvihill, Sean J.; Petersen, Gloria M.; Rhim, Andrew D.; Simeone, Diane M.; Srivastava, Sudhir; Tanaka, Masao; Vinik, Aaron I.; Wong, David

2015-01-01

Abstract Pancreatic cancer (PC) is estimated to become the second leading cause of cancer death in the United States by 2020. Early detection is the key to improving survival in PC. Addressing this urgent need, the Kenner Family Research Fund conducted the inaugural Early Detection of Sporadic Pancreatic Cancer Summit Conference in 2014 in conjunction with the 45th Anniversary Meeting of the American Pancreatic Association and Japan Pancreas Society. This seminal convening of international representatives from science, practice, and clinical research was designed to facilitate challenging interdisciplinary conversations to generate innovative ideas leading to the creation of a defined collaborative strategic pathway for the future of the field. An in-depth summary of current efforts in the field, analysis of gaps in specific areas of expertise, and challenges that exist in early detection is presented within distinct areas of inquiry: Case for Early Detection: Definitions, Detection, Survival, and Challenges; Biomarkers for Early Detection; Imaging; and Collaborative Studies. In addition, an overview of efforts in familial PC is presented in an addendum to this article. It is clear from the summit deliberations that only strategically designed collaboration among investigators, institutions, and funders will lead to significant progress in early detection of sporadic PC. PMID:25931254

Genetic Relatedness among Nontypeable Pneumococci Implicated in Sporadic Cases of Conjunctivitis

Science.gov (United States)

Barker, Jason H.; Musher, Daniel M.; Silberman, Ronald; Phan, Hoang M.; Watson, David A.

1999-01-01

Nontypeable Streptococcus pneumoniae is a common cause of epidemic conjunctivitis. A previous molecular fingerprinting study identified a clone of nontypeable pneumococcus that was responsible for a recent outbreak of conjunctivitis. In the present study, we examined the extent to which pneumococci that cause sporadic cases of conjunctivitis are related to this epidemic strain. Using arbitrarily primed BOX-PCR, we have determined that, of 10 nontypeable pneumococci causing sporadic conjunctivitis, 5 were clonal and closely related to a previous outbreak strain, whereas 5 others were genetically diverse. PMID:10565927

Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism.

Science.gov (United States)

Tomiyama, Hiroyuki; Li, Yuanzhe; Yoshino, Hiroyo; Mizuno, Yoshikuni; Kubo, Shin-Ichiro; Toda, Tatsushi; Hattori, Nobutaka

2009-05-22

DJ-1 mutations cause autosomal recessive parkinsonism (ARP). Although some reports of DJ-1 mutations have been published, there is lack of information on the prevalence of these mutations in large-scale studies of both familial and sporadic parkinsonism. In this genetic screening study, we analyzed the distribution and frequency of DJ-1 mutations by direct nucleotide sequencing of coding exons and exon-intron boundaries of DJ-1, in 386 parkin-negative parkinsonism patients (371 index cases: 67 probands of autosomal recessive parkinsonism families, 90 probands of autosomal dominant parkinsonism families, 201 patients with sporadic parkinsonism, and 13 with unknown family histories) from 12 countries (Japan 283, China 27, Taiwan 22, Korea 22, Israel 16, Turkey 5, Philippines 2, Bulgaria 2, Greece 2, Tunisia 1, USA 2, Ukraine 1, unknown 1). None had causative mutation in DJ-1, suggesting DJ-1 mutation is very rare among patients with familial and sporadic parkinsonism from Asian countries and those with other ethnic background. This is in contrast to the higher frequencies and worldwide distribution of parkin- and PINK1-related parkinsonism in ARP and sporadic parkinsonism. Thus, after obtaining clinical information, screening for mutations in (1) parkin, (2) PINK1, (3) DJ-1, (4) ATP13A2 should be conducted in that order, in ARP and sporadic parkinsonism, based on their reported frequencies. In addition, haplotype analysis should be employed to check for homozygosity of 1p36, which harbors a cluster of causative genes for ARP such as DJ-1, PINK1 and ATP13A2 in ARP and sporadic parkinsonism, especially in parkinsonism with consanguinity.

Strong disorder real-space renormalization for the many-body-localized phase of random Majorana models

Science.gov (United States)

Monthus, Cécile

2018-03-01

For the many-body-localized phase of random Majorana models, a general strong disorder real-space renormalization procedure known as RSRG-X (Pekker et al 2014 Phys. Rev. X 4 011052) is described to produce the whole set of excited states, via the iterative construction of the local integrals of motion (LIOMs). The RG rules are then explicitly derived for arbitrary quadratic Hamiltonians (free-fermions models) and for the Kitaev chain with local interactions involving even numbers of consecutive Majorana fermions. The emphasis is put on the advantages of the Majorana language over the usual quantum spin language to formulate unified RSRG-X rules.

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

Science.gov (United States)

Daoud, H; Valdmanis, P N; Kabashi, E; Dion, P; Dupré, N; Camu, W; Meininger, V; Rouleau, G A

2009-02-01

Mutations in the TARDBP gene, which encodes the TAR DNA binding protein (TDP-43), have been described in individuals with familial and sporadic amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic ALS patients to assess the frequency of TARDBP mutations in ALS. Six individuals had potentially deleterious mutations of which three were novel including a Y374X truncating mutation and P363A and A382P missense mutations. This suggests that TARDBP mutations may predispose to ALS in approximately 2% of the individuals followed in this study. Our findings, combined with those from other collections, brings the total number of mutations in unrelated ALS patients to 17, further suggesting that mutations in the TARDBP gene have an important role in the pathogenesis of ALS.

Strong influence of regional species pools on continent-wide structuring of local communities.

Science.gov (United States)

Lessard, Jean-Philippe; Borregaard, Michael K; Fordyce, James A; Rahbek, Carsten; Weiser, Michael D; Dunn, Robert R; Sanders, Nathan J

2012-01-22

There is a long tradition in ecology of evaluating the relative contribution of the regional species pool and local interactions on the structure of local communities. Similarly, a growing number of studies assess the phylogenetic structure of communities, relative to that in the regional species pool, to examine the interplay between broad-scale evolutionary and fine-scale ecological processes. Finally, a renewed interest in the influence of species source pools on communities has shown that the definition of the source pool influences interpretations of patterns of community structure. We use a continent-wide dataset of local ant communities and implement ecologically explicit source pool definitions to examine the relative importance of regional species pools and local interactions for shaping community structure. Then we assess which factors underlie systematic variation in the structure of communities along climatic gradients. We find that the average phylogenetic relatedness of species in ant communities decreases from tropical to temperate regions, but the strength of this relationship depends on the level of ecological realism in the definition of source pools. We conclude that the evolution of climatic niches influences the phylogenetic structure of regional source pools and that the influence of regional source pools on local community structure is strong.

Prevalence of Abnormal Cervical Smears from Sporadic Screening ...

African Journals Online (AJOL)

The aim of the study was to find the prevalence of abnormal smears in an unscreened population of sexually active women attending a gynaecological clinic. “Pap” smears were taken sporadically for cytological examination from sexually active women attending gynaecological clinics at the Federal Medical Centre Gombe.

Sporadic wind wave horse-shoe patterns

Directory of Open Access Journals (Sweden)

S. Yu. Annenkov

1999-01-01

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

Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers

DEFF Research Database (Denmark)

Halvarsson, Britta; Anderson, Harald; Domanska, Katarina

2008-01-01

Identification of sporadic mismatch repair (MMR)-defective colon cancers is increasingly demanded for decisions on adjuvant therapies. We evaluated clinicopathologic factors for the identification of these prognostically favorable tumors. Histopathologic features in 238 consecutive colon cancers...

A review of drug therapy for sporadic fatal insomnia.

Science.gov (United States)

Tabaee Damavandi, Pardis; Dove, Martin T; Pickersgill, Richard W

2017-09-03

Sporadic fatal insomnia (sFI) is a rapid progressive neurodegenerative disease characterised by gradual to perpetual insomnia, followed by dysautonomia, coma and death. 1 The cause of sFI was recently mapped to a mutation in a protein, the prion, found in the human brain. It is the unfolding of the prion that leads to the generation of toxic oligomers that destroy brain tissue and function. Recent studies have confirmed that a methionine mutation at codon 129 of the human Prion is characteristic of sFI. Current treatment slows down the progression of the disease, but no cure has been found, yet. We used Molecular Docking and Molecular Dynamics simulation methods, to study the toxic Fatal-Insomnia-prion conformations at local unfolding. The idea was to determine these sites and to stabilise these regions against unfolding and miss-folding, using a small ligand, based on a phenothiazine "moiety". As a result we here discuss current fatal insomnia therapy and present seven novel possible compounds for in vitro and in vivo screening.

Detection and Localization of PrPSc in the Skeletal Muscle of Patients with Variant, Iatrogenic, and Sporadic Forms of Creutzfeldt-Jakob Disease

Science.gov (United States)

Peden, Alexander H.; Ritchie, Diane L.; Head, Mark W.; Ironside, James W.

2006-01-01

Variant Creutzfeldt-Jakob disease (vCJD) differs from other human prion diseases in that the pathogenic prion protein PrPSc can be detected to a greater extent at extraneuronal sites throughout the body, principally within lymphoid tissues. However, a recent study using a high-sensitivity Western blotting technique revealed low levels of PrPSc in skeletal muscle from a quarter of Swiss patients with sporadic CJD (sCJD). This posed the question of whether PrPSc in muscle could also be detected in vCJD, sCJD, and iatrogenic (iCJD) patients from other populations. Therefore, we have used the same high-sensitivity Western blotting technique, in combination with paraffin-embedded tissue blotting, to screen for PrPSc in muscle tissue specimens taken at autopsy from 49 CJD patients in the United Kingdom. These techniques identified muscle PrPSc in 8 of 17 vCJD, 7 of 26 sCJD, and 2 of 5 iCJD patients. Paraffin-embedded tissue blotting analysis showed PrPSc in skeletal muscle in localized anatomical structures that had the morphological and immunohistochemical characteristics of nerve fibers. The detection of PrPSc in muscle tissue from all forms of CJD indicates the possible presence of infectivity in these tissues, suggesting important implications for assessing the potential risk of iatrogenic spread via contaminated surgical instruments. PMID:16507908

Enhancing Homeland Security Efforts by Building Strong Relationships between the Muslim Community and Local Law Enforcement

National Research Council Canada - National Science Library

Jensen, Dennis L

2006-01-01

... to follow up on the incident and to prevent future attacks. It is undeniable that building a strong relationship between the local police and the Muslim community is essential in defending America against acts of terrorism...

Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

NARCIS (Netherlands)

I. Zerr; K. Kallenberg; D.M. Summers; C. Romero; A. Taratuto; U. Heinemann; M. Breithaupt; D. Varges; B. Meissner; A. Ladogana (Anna); M. Schuur (Maaike); S. Haik; S.J. Collins (Steven); G.H. Jansen (Gerard); G.B. Stokin; J. Pimentel; E. Hewer; D. Collie; P. Smith; H. Roberts; J.P. Brandel; P. Tikka-Kleemola (Päivi); M. Pocchiari (Maurizio); C. Begue; P. Cras (Patrick); R.G. Will; P. Sanchez-Juan (Pascual)

2009-01-01

textabstractSeveral molecular subtypes of sporadic Creutzfeldt-Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications

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

DEFF Research Database (Denmark)

van Eimeren, Thilo; Binkofski, Ferdinand; Buhmann, Carsten

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...... 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...

Polarization-gradient laser cooling as a way to create strongly localized structures for atom lithography

International Nuclear Information System (INIS)

Prudnikov, O. N.; Taichenachev, A. V.; Tumaikin, A. M.; Yudin, V. I.

2007-01-01

Generally, conditions for deep sub-Doppler laser cooling do not match conditions for strong atomic localization, that takes place in a deeper optical potential and leads to higher temperature. Moreover, for a given detuning in a deep optical potential the secular approximation, which is frequently used for a quantum description of laser cooling, fails. Here we investigate the atomic localization in optical potential, using a full quantum approach for atomic density matrix beyond the secular approximation. It is shown that laser cooling in a deep optical potential, created by a light field with polarization gradients, can be used as an alternative method for the formation of high contrast spatially localized structures of atoms for the purposes of atom lithography and atomic nanofabrication. Finally, we analyze possible limits for the width and contrast of localized atomic structures that can be reached in this type of light mask

Study of rare earth local moment magnetism and strongly correlated phenomena in various crystal structures

Energy Technology Data Exchange (ETDEWEB)

Kong, Tai [Iowa State Univ., Ames, IA (United States)

2016-12-17

Benefiting from unique properties of 4f electrons, rare earth based compounds are known for offering a versatile playground for condensed matter physics research as well as industrial applications. This thesis focuses on three specific examples that further explore the rare earth local moment magnetism and strongly correlated phenomena in various crystal structures.

Transmission of sporadic Creutzfeldt-Jakob disease by blood transfusion: risk factor or possible biases.

Science.gov (United States)

Puopolo, Maria; Ladogana, Anna; Vetrugno, Vito; Pocchiari, Maurizio

2011-07-01

The occurrence of transfusion transmissions of variant Creutzfeldt-Jakob disease (CJD) cases has reawakened attention to the possible similar risk posed by other forms of CJD. CJD with a definite or probable diagnosis (sporadic CJD, n = 741; genetic CJD, n = 175) and no-CJD patients with definite alternative diagnosis (n = 482) with available blood transfusion history were included in the study. The risk of exposure to blood transfusion occurring more than 10 years before disease onset and for some possible confounding factors was evaluated by calculating crude odds ratios (ORs). Variables with significant ORs in univariate analyses were included in multivariate logistic regression analyses. In the univariate model, blood transfusion occurring more than 10 years before clinical onset is 4.1-fold more frequent in sporadic CJD than in other neurologic disorders. This significance is lost when the 10-year lag time was not considered. Multivariate analyses show that the risk of developing sporadic CJD after transfusion increases (OR, 5.05) after adjusting for possible confounding factors. Analysis conducted on patients with genetic CJD did not reveal any significant risk factor associated with transfusion. This is the first case-control study showing a significant risk of transfusion occurring more than 10 years before clinical onset in sporadic CJD patients. It remains questionable whether the significance of these data is biologically plausible or the consequence of biases in the design of the study, but they counterbalance previous epidemiologic negative reports that might have overestimated the assessment of blood safety in sporadic CJD. © 2010 American Association of Blood Banks.

Near Earth space sporadic radio emission busts occurring during sunrise

Science.gov (United States)

Dudnik, A. V.; Zaljubovsky, I. I.; Kartashev, V. M.; Lasarev, A. V.; Shmatko, E. S.

1985-01-01

During the period of low solar activity at sunrise the effect of sporadic high frequency near Earth space radio emission was experimentally discovered at middle latitudes. The possible mechanism of its origin is discussed.

Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer

DEFF Research Database (Denmark)

Stevanato Filho, Paulo Roberto; Aguiar Júnior, Samuel; Begnami, Maria Dirlei

2017-01-01

BACKGROUND: Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas...... was identified in sporadic polyps and in sporadic colorectal cancer as well as in polyps from FAP syndrome patients compared with normal tissues (p expression in polyps (p ..., no differences were observed when sporadic colorectal carcinomas were compared to normal mucosa tissues. These findings suggest an association of the ERβ isoform variants in individuals affected by germline mutations of the APC gene. Progressively decreased expression of ERβ was found in polyps at early stages...

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

International Nuclear Information System (INIS)

Lannfelt, L.; Lilius, L.; Viitanen, M.; Winblad, B.; Basun, H.; Houlden, H.; Rossor, M.; Hardy, J.

1995-01-01

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.)

Reactive GTS Allocation Protocol for Sporadic Events Using the IEEE 802.15.4

Directory of Open Access Journals (Sweden)

Mukhtar Azeem

2014-01-01

by the IEEE 802.15.4 standard. The proposed control protocol ensures that a given offline sporadic schedule can be adapted online in a timely manner such that the static periodic schedule has not been disturbed and the IEEE 802.15.4 standard compliance remains intact. The proposed protocol is simulated in OPNET. The simulation results are analyzed and presented in this paper to prove the correctness of the proposed protocol regarding the efficient real-time sporadic event delivery along with the periodic event propagation.

Association between rs6812193 polymorphism and sporadic Parkinson's disease susceptibility.

Science.gov (United States)

Huo, Qiang; Li, Tao; Zhao, Peiqing; Wang, Lianqing

2015-08-01

Recently, the association of a single nucleotide polymorphism rs6812193 C/T with sporadic Parkinson's disease (PD) susceptibility has been widely evaluated, but the results remained inconsistent. This association should be clarified because of the importance of it on human health and quality of life. We performed a comprehensive meta-analysis to evaluate the association between the rs6812193 polymorphism and sporadic PD. PubMed was used to retrieve articles published up to June 2014 for all studies evaluating the rs6812193 polymorphism and PD in humans. Ethnicity-specific subgroup analysis was also performed based on ethnicity susceptibility. A total of 17 independent study samples (15 Caucasians and 2 Asians) including 17,956 cases and 52,751 controls were used in the presented study. The MAFT (minor allele T frequency) in PD patients of European descent is obviously higher than Asian cases (p susceptibility among overall samples (OR 0.882, 95 % CI 0.856-0.908) and Caucasian population (OR 0.881, 95 % CI 0.856-0.907), but not in Asian samples (OR 0.918, 95 % CI 0.721-1.168). No evidence of publication bias was observed. Throughout our analysis, the rs6812193 polymorphism is significantly associated with sporadic PD susceptibility in Caucasian samples, and ethnicity might be the key point of inconsistency in rs6812193 studies. Further studies are warranted to re-examine the observed associations, especially in different ethnicities.

Higher cytoplasmic and nuclear poly(ADP-ribose) polymerase expression in familial than in sporadic breast cancer

NARCIS (Netherlands)

Klauke, M.L.; Hoogerbrugge-van der Linden, N.; Budczies, J.; Bult, P.; Prinzler, J.; Radke, C.; van Krieken, J.H.; Dietel, M.; Denkert, C.; Muller, B.M.

2012-01-01

Poly(ADP-ribose) polymerase 1 (PARP) is a key element of the single-base excision pathway for repair of DNA single-strand breaks. To compare the cytoplasmic and nuclear poly(ADP-ribose) expression between familial (BRCA1, BRCA2, or non BRCA1/2) and sporadic breast cancer, we investigated 39 sporadic

Multiple imputation by chained equations for systematically and sporadically missing multilevel data.

Science.gov (United States)

Resche-Rigon, Matthieu; White, Ian R

2018-06-01

In multilevel settings such as individual participant data meta-analysis, a variable is 'systematically missing' if it is wholly missing in some clusters and 'sporadically missing' if it is partly missing in some clusters. Previously proposed methods to impute incomplete multilevel data handle either systematically or sporadically missing data, but frequently both patterns are observed. We describe a new multiple imputation by chained equations (MICE) algorithm for multilevel data with arbitrary patterns of systematically and sporadically missing variables. The algorithm is described for multilevel normal data but can easily be extended for other variable types. We first propose two methods for imputing a single incomplete variable: an extension of an existing method and a new two-stage method which conveniently allows for heteroscedastic data. We then discuss the difficulties of imputing missing values in several variables in multilevel data using MICE, and show that even the simplest joint multilevel model implies conditional models which involve cluster means and heteroscedasticity. However, a simulation study finds that the proposed methods can be successfully combined in a multilevel MICE procedure, even when cluster means are not included in the imputation models.

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

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Celeste Sassi

Full Text Available The cerebral deposition of Aβ42, a neurotoxic proteolytic derivate of amyloid precursor protein (APP, is a central event in Alzheimer's disease (AD(Amyloid hypothesis. Given the key role of APP-Aβ metabolism in AD pathogenesis, we selected 29 genes involved in APP processing, Aβ degradation and clearance. We then used exome and genome sequencing to investigate the single independent (single-variant association test and cumulative (gene-based association test effect of coding variants in these genes as potential susceptibility factors for AD, in a cohort composed of 332 sporadic and mainly late-onset AD cases and 676 elderly controls from North America and the UK. Our study shows that common coding variability in these genes does not play a major role for the disease development. In the single-variant association analysis, the main hits, none of which statistically significant after multiple testing correction (1.9e-4strong effect size (1.84sporadic AD.

Quantitative study of two- and three-dimensional strong localization of matter waves by atomic scatterers

International Nuclear Information System (INIS)

Antezza, Mauro; Castin, Yvan; Hutchinson, David A. W.

2010-01-01

We study the strong localization of atomic matter waves in a disordered potential created by atoms pinned at the nodes of a lattice, for both three-dimensional (3D) and two-dimensional (2D) systems. The localization length of the matter wave, the density of localized states, and the occurrence of energy mobility edges (for the 3D system), are numerically investigated as a function of the effective scattering length between the atomic matter wave and the pinned atoms. Both positive and negative matter wave energies are explored. Interesting features of the density of states are discovered at negative energies, where maxima in the density of bound states for the system can be interpreted in terms of bound states of a matter wave atom with a few pinned atomic scatterers. In 3D we found evidence of up to three mobility edges, one at positive energies, and two at negative energies, the latter corresponding to transitions between extended and localized bound states. In 2D, no mobility edge is found, and a rapid exponential-like increase of the localization length is observed at high energy.

The lunar tide in sporadic E

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R. J. Stening

1999-10-01

Full Text Available It seems that the wind shear theory is accepted for the explanation of sporadic E at mid and low latitudes. Some examples from Arecibo are displayed to show this. The effect of lunar tides should then modify the wind-shear theory in a manner that yields the observed features of the lunar tide in the critical frequency foEs and the height h'Es of the sporadic E. This is shown to imply that the phase of the lunar tide in h'Es should be the same as the phase of the lunar tide in the eastward wind and that the phase of the lunar tide in foEs is three hours later. Hourly values of foEs, f bEs (the blanketing critical frequency and h'Es from several observatories are analysed for the lunar semidiurnal tide. It is found that the phase of the tide in foEs is often about 3 hours later than for h'Es in agreement with the theory. Seasonal variations in the tide are also examined with the statistically most significant results (largest amplitudes usually occurring in summer. After reviewing the many difficulties associated with determining the lunar tide in Es, both experimentally and theoretically, the analysed phase results are compared with what might be expected from Hagan's global scale wave model. Agreement is only fair (a success rate of 69% among the cases examined but probably as good as might be expected.Key words. Ionosphere (ionosphere – atmosphere interactions – ionospheric irregularities, Meteorology and atmosphere dynamics (waves and tides

High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece.

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Sarika, H L; Papathoma, A; Garofalaki, M; Vasileiou, V; Vlassopoulou, B; Anastasiou, E; Alevizaki, M

2012-12-01

Genetic screening for ret mutation has become routine practice in the evaluation of medullary thyroid carcinoma (MTC). Approximately 25% of these tumours are familial, and they occur as components of the multiple endocrine neoplasia type 2 syndromes (MEN 2A and 2B) or familial MTC. In familial cases, the majority of mutations are found in exons 10, 11, 13, 14 or 15 of the ret gene. A rare mutation involving exon 8 (G533C) has recently been reported in familial cases of MTC in Brazil and Greece; some of these cases were originally thought to be sporadic. The aim of this study was to re-evaluate a series of sporadic cases of MTC, with negative family history, and screen them for germline mutations in exon 8. Genomic DNA was extracted from peripheral lymphocytes in 129 unrelated individuals who had previously been characterized as 'sporadic' based on the negative family history and negative screening for ret gene mutations. Samples were analysed in Applied Biosystems 7500 real-time PCR and confirmed by sequencing. The G533C exon 8 mutation was identified in 10 of 129 patients with sporadic MTC. Asymptomatic gene carriers were subsequently identified in other family members. In our study, we found that 7·75% patients with apparently sporadic MTC do carry G533C mutation involving exon 8 of ret. We feel that there is now a need to include exon 8 mutation screening in all patients diagnosed as sporadic MTC, in Greece. © 2012 Blackwell Publishing Ltd.

[The practice guideline 'Dermatomyositis, polymyositis and sporadic inclusion body myositis'

NARCIS (Netherlands)

Hoogendijk, J.E.; Bijlsma, J.W.J.; Engelen, B.G.M. van; Lindeman, E.J.M.; Royen-Kerkhof, A. van; Rie, M.A. de; Visser, M. de; Jennekens, F.G.I.

2005-01-01

This guideline presents recommendations for the diagnosis and treatment of dermatomyositis, polymyositis and sporadic inclusion body myositis (sIBM) according to the best available evidence. Characteristic skin abnormalities can be sufficient for the diagnosis of dermatomyositis. In case of doubt, a

Does local government have capacity for enabling local economic development? Lessons from Jamaica

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Eris D Schoburgh

2014-07-01

Full Text Available Implementation of the Caribbean Local Economic Development Project (CARILED1began in 2012 in seven countries for a duration of six years, to support sustainable economic growth in the region. CARILED has introduced the idea of local economic development (LED to the ‘development’ debate in the region but has also brought the organisational capacity of local government, and local government’s role as ‘facilitator’ of LED,to the fore. This paper assesses organizational behaviour and capability in local government in Jamaica to determine the state of readiness for a developmental role. The paper draws on two sets of research data to aid its analysis–a capacity audit (CAPAUD conducted in 2010 and an organisational analysis (OAcommissioned by the Ministry of Local Government in 2010, both of which targeted a sample of local authorities in Jamaica. The study found that when assessed against established criteria for an LED organisation, ie: research and information provision; marketing and coordination; learning and innovation; and leadership - local government’s institutional and organisational capacity for development is unevenly distributed. For instance, local leaders understood organisational purpose but efforts to give effect to this appeared undeveloped, sporadic and uni-directional. It was also evident that participatory strategies are used to gain information from communities but these were often devoid of systematic research methodologies rendering formal community impact on local planning negligent. Finally there is strong potential for the kind of administrative leadership required by a developmental local government to evolve,indicated by the quality of training, quantum of managerial/supervisory staff, and stability of staff establishment. However, this potential is threatened by the deficiencies in the non-traditional functional areas that are strategic to the organisation’s effectiveness as a ‘facilitator’ of LED, ie

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

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Takuto eHideyama

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.

Strong Loophole-Free Test of Local Realism.

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Shalm, Lynden K; Meyer-Scott, Evan; Christensen, Bradley G; Bierhorst, Peter; Wayne, Michael A; Stevens, Martin J; Gerrits, Thomas; Glancy, Scott; Hamel, Deny R; Allman, Michael S; Coakley, Kevin J; Dyer, Shellee D; Hodge, Carson; Lita, Adriana E; Verma, Varun B; Lambrocco, Camilla; Tortorici, Edward; Migdall, Alan L; Zhang, Yanbao; Kumor, Daniel R; Farr, William H; Marsili, Francesco; Shaw, Matthew D; Stern, Jeffrey A; Abellán, Carlos; Amaya, Waldimar; Pruneri, Valerio; Jennewein, Thomas; Mitchell, Morgan W; Kwiat, Paul G; Bienfang, Joshua C; Mirin, Richard P; Knill, Emanuel; Nam, Sae Woo

2015-12-18

We present a loophole-free violation of local realism using entangled photon pairs. We ensure that all relevant events in our Bell test are spacelike separated by placing the parties far enough apart and by using fast random number generators and high-speed polarization measurements. A high-quality polarization-entangled source of photons, combined with high-efficiency, low-noise, single-photon detectors, allows us to make measurements without requiring any fair-sampling assumptions. Using a hypothesis test, we compute p values as small as 5.9×10^{-9} for our Bell violation while maintaining the spacelike separation of our events. We estimate the degree to which a local realistic system could predict our measurement choices. Accounting for this predictability, our smallest adjusted p value is 2.3×10^{-7}. We therefore reject the hypothesis that local realism governs our experiment.

Regression of sporadic intra-abdominal desmoid tumour following administration of non-steroidal anti-inflammatory drug

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Fujiwara Yoshinori

2008-02-01

Full Text Available Abstract Background Desmoid tumours or fibromatoses are rare entities characterized by the benign proliferation of fibroblasts, which can be life-threatening due to their locally aggressive properties. Surgery is widely accepted as the first line of treatment for extra-abdominal desmoids; however, it is not recommended for intra-abdominal desmoids because of the high-risk of recurrence and difficulties with the operation. Here, we report on a patient with sporadic intra-abdominal desmoid tumours, who showed partial response following the intake of non-steroidal anti-inflammatory drugs. Case presentation A 73-year-old man presented with swelling and pain of the right leg. Computed tomography showed an abnormal multilocular soft-tissue mass (95 × 70 mm in the right pelvis, which was revealed by biopsy to be a desmoid tumour. Immunohistochemical analysis showed that the tumour cells expressed vimentin, but not smooth-muscle actin, CD34, or desmin. Very few Ki-67-positive cells were found. Non-cytotoxic treatment with etodolac (200 mg/day was chosen because of the patient's age, lack of bowel obstruction, and the likelihood of prostate cancer. Two years after the commencement of non-steroidal anti-inflammatory drug administration, computed tomography showed a decrease in tumour size (63 × 49 mm, and the disappearance of intratumoural septa. Conclusion Our case report suggests that non-steroidal anti-inflammatory drug treatment should be taken into consideration for use as first-line treatment in patients with sporadic intra-abdominal desmoid tumours.

Regression of sporadic intra-abdominal desmoid tumour following administration of non-steroidal anti-inflammatory drug

Science.gov (United States)

Tanaka, Keita; Yoshikawa, Reigetsu; Yanagi, Hidenori; Gega, Makoto; Fujiwara, Yoshinori; Hashimoto-Tamaoki, Tomoko; Hirota, Syozo; Tsujimura, Tohru; Tomita, Naohiro

2008-01-01

Background Desmoid tumours or fibromatoses are rare entities characterized by the benign proliferation of fibroblasts, which can be life-threatening due to their locally aggressive properties. Surgery is widely accepted as the first line of treatment for extra-abdominal desmoids; however, it is not recommended for intra-abdominal desmoids because of the high-risk of recurrence and difficulties with the operation. Here, we report on a patient with sporadic intra-abdominal desmoid tumours, who showed partial response following the intake of non-steroidal anti-inflammatory drugs. Case presentation A 73-year-old man presented with swelling and pain of the right leg. Computed tomography showed an abnormal multilocular soft-tissue mass (95 × 70 mm) in the right pelvis, which was revealed by biopsy to be a desmoid tumour. Immunohistochemical analysis showed that the tumour cells expressed vimentin, but not smooth-muscle actin, CD34, or desmin. Very few Ki-67-positive cells were found. Non-cytotoxic treatment with etodolac (200 mg/day) was chosen because of the patient's age, lack of bowel obstruction, and the likelihood of prostate cancer. Two years after the commencement of non-steroidal anti-inflammatory drug administration, computed tomography showed a decrease in tumour size (63 × 49 mm), and the disappearance of intratumoural septa. Conclusion Our case report suggests that non-steroidal anti-inflammatory drug treatment should be taken into consideration for use as first-line treatment in patients with sporadic intra-abdominal desmoid tumours. PMID:18257933

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

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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.).

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

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Li Ling-Hui

2011-06-01

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

A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.

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Nasrine Bendjilali

Full Text Available Brain arteriovenous malformations (BAVM are clusters of abnormal blood vessels, with shunting of blood from the arterial to venous circulation and a high risk of rupture and intracranial hemorrhage. Most BAVMs are sporadic, but also occur in patients with Hereditary Hemorrhagic Telangiectasia, a Mendelian disorder caused by mutations in genes in the transforming growth factor beta (TGFβ signaling pathway.To investigate whether copy number variations (CNVs contribute to risk of sporadic BAVM, we performed a genome-wide association study in 371 sporadic BAVM cases and 563 healthy controls, all Caucasian. Cases and controls were genotyped using the Affymetrix 6.0 array. CNVs were called using the PennCNV and Birdsuite algorithms and analyzed via segment-based and gene-based approaches. Common and rare CNVs were evaluated for association with BAVM.A CNV region on 1p36.13, containing the neuroblastoma breakpoint family, member 1 gene (NBPF1, was significantly enriched with duplications in BAVM cases compared to controls (P = 2.2×10(-9; NBPF1 was also significantly associated with BAVM in gene-based analysis using both PennCNV and Birdsuite. We experimentally validated the 1p36.13 duplication; however, the association did not replicate in an independent cohort of 184 sporadic BAVM cases and 182 controls (OR = 0.81, P = 0.8. Rare CNV analysis did not identify genes significantly associated with BAVM.We did not identify common CNVs associated with sporadic BAVM that replicated in an independent cohort. Replication in larger cohorts is required to elucidate the possible role of common or rare CNVs in BAVM pathogenesis.

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

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

2011-04-15

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

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

International Nuclear Information System (INIS)

Talbott, Sabrina D.; Sattenberg, Ronald J.; Heidenreich, Jens O.; Plato, Brian M; Parker, John

2011-01-01

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

A semi-empirical analysis of strong-motion peaks in terms of seismic source, propagation path, and local site conditions

Science.gov (United States)

Kamiyama, M.; Orourke, M. J.; Flores-Berrones, R.

1992-09-01

A new type of semi-empirical expression for scaling strong-motion peaks in terms of seismic source, propagation path, and local site conditions is derived. Peak acceleration, peak velocity, and peak displacement are analyzed in a similar fashion because they are interrelated. However, emphasis is placed on the peak velocity which is a key ground motion parameter for lifeline earthquake engineering studies. With the help of seismic source theories, the semi-empirical model is derived using strong motions obtained in Japan. In the derivation, statistical considerations are used in the selection of the model itself and the model parameters. Earthquake magnitude M and hypocentral distance r are selected as independent variables and the dummy variables are introduced to identify the amplification factor due to individual local site conditions. The resulting semi-empirical expressions for the peak acceleration, velocity, and displacement are then compared with strong-motion data observed during three earthquakes in the U.S. and Mexico.

Case-Control Studies of Sporadic Enteric Infections: A Review and Discussion of Studies Conducted Internationally from 1990 to 2009

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Fullerton, Kathleen E.; Scallan, Elaine; Kirk, Martyn D.; Mahon, Barbara E.; Angulo, Frederick J.; de Valk, Henriette; van Pelt, Wilfrid; Gauci, Charmaine; Hauri, Anja M.; Majowicz, Shannon; O’Brien, Sarah J.

2015-01-01

Epidemiologists have used case-control studies to investigate enteric disease outbreaks for many decades. Increasingly, case-control studies are also used to investigate risk factors for sporadic (not outbreak-associated) disease. While the same basic approach is used, there are important differences between outbreak and sporadic disease settings that need to be considered in the design and implementation of the case-control study for sporadic disease. Through the International Collaboration on Enteric Disease “Burden of Illness” Studies (the International Collaboration), we reviewed 79 case-control studies of sporadic enteric infections caused by nine pathogens that were conducted in 22 countries and published from 1990 through to 2009. We highlight important methodological and study design issues (including case definition, control selection, and exposure assessment) and discuss how approaches to the study of sporadic enteric disease have changed over the last 20 years (e.g., making use of more sensitive case definitions, databases of controls, and computer-assisted interviewing). As our understanding of sporadic enteric infections grows, methods and topics for case-control studies are expected to continue to evolve; for example, advances in understanding of the role of immunity can be used to improve control selection, the apparent protective effects of certain foods can be further explored, and case-control studies can be used to provide population-based measures of the burden of disease. PMID:22443481

Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).

Science.gov (United States)

Liu, Yong; Cao, Yu; Li, Yaxiong; Lei, Dongyun; Li, Lin; Hou, Zong Liu; Han, Shen; Meng, Mingyao; Shi, Jianlin; Zhang, Yayong; Wang, Yi; Niu, Zhaoyi; Xie, Yanhua; Xiao, Benshan; Wang, Yuanfei; Li, Xiao; Yang, Lirong; Wang, Wenju; Jiang, Lihong

2018-03-05

BACKGROUND Recently, mutations in several genes have been described to be associated with sporadic ASD, but some genetic variants remain to be identified. The aim of this study was to use whole-exome sequencing (WES) combined with bioinformatics analysis to identify novel genetic variants in cases of sporadic congenital ASD, followed by validation by Sanger sequencing. MATERIAL AND METHODS Five Han patients with secundum ASD were recruited, and their tissue samples were analyzed by WES, followed by verification by Sanger sequencing of tissue and blood samples. Further evaluation using blood samples included 452 additional patients with sporadic secundum ASD (212 male and 240 female patients) and 519 healthy subjects (252 male and 267 female subjects) for further verification by a multiplexed MassARRAY system. Bioinformatic analyses were performed to identify novel genetic variants associated with sporadic ASD. RESULTS From five patients with sporadic ASD, a total of 181,762 genomic variants in 33 exon loci, validated by Sanger sequencing, were selected and underwent MassARRAY analysis in 452 patients with ASD and 519 healthy subjects. Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic ASD (PASD (PASD, and supported the use of WES and bioinformatics analysis to identify disease-associated mutations.

Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers

DEFF Research Database (Denmark)

Halvarsson, Britta; Anderson, Harald; Domanska, Katarina

2008-01-01

Identification of sporadic mismatch repair (MMR)-defective colon cancers is increasingly demanded for decisions on adjuvant therapies. We evaluated clinicopathologic factors for the identification of these prognostically favorable tumors. Histopathologic features in 238 consecutive colon cancers...... and excluded 61.5% of the tumors from MMR testing. This clinicopathologic index thus successfully selects MMR-defective colon cancers. Udgivelsesdato: 2008-Feb...

SARC006: Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated Chemotherapy-Naive Malignant Peripheral Nerve Sheath Tumors

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Christine S. Higham

2017-01-01

Full Text Available Background. Worse chemotherapy response for neurofibromatosis type 1- (NF1- associated compared to sporadic malignant peripheral nerve sheath tumors (MPNST has been reported. Methods. We evaluated the objective response (OR rate of patients with AJCC Stage III/IV chemotherapy-naive NF1 MPNST versus sporadic MPNST after 4 cycles of neoadjuvant chemotherapy, 2 cycles of ifosfamide/doxorubicin, and 2 cycles of ifosfamide/etoposide. A Simon optimal two-stage design was used (target response rate 40%. Results. 34 NF1 (median age 33 years and 14 sporadic (median age 40 years MPNST patients enrolled. Five of 28 (17.9% evaluable NF1 MPNST patients had a partial response (PR, as did 4 of 9 (44.4% patients with sporadic MPNST. Stable disease (SD was achieved in 22 NF1 and 4 sporadic MPNST patients. In both strata, results in the initial stages met criteria for expansion of enrollment. Only 1 additional PR was observed in the expanded NF1 stratum. Enrollment was slower than expected and the trial closed before full accrual. Conclusions. This trial was not powered to detect differences in response rates between NF1 and sporadic MPNST. While the OR rate was lower in NF1 compared to sporadic MPNST, qualitative responses were similar, and disease stabilization was achieved in most patients.

MRI of sporadic Creutzfeldt-Jakob disease

International Nuclear Information System (INIS)

Kong, A.; Vliet, A. Van der.

2008-01-01

Full text: The key MRI findings in five cases of sporadic Creutzfeldt-Jakob disease (CJD) are illustrated with four 'definite' and one 'probable' according to World Health Organization criteria. Close attention to fluid-attenuation inversion recovery and diffusion-weighted imaging sequences are important for diagnosis, noting especially restricted diffusion in cortical and deep grey matter. Our study and those of others show predominant cortical, caudate and thalamic involvement. This pattern is highly sensitive and specific for the diagnosis. Fluid-attenuation inversion recovery and diffusion-weighted imaging signal abnormality becomes progressively more extensive and bilateral as disease progresses, but may become less pronounced in end-stage disease because of atrophy.

Genuine multipartite entanglement of symmetric Gaussian states: Strong monogamy, unitary localization, scaling behavior, and molecular sharing structure

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Adesso, Gerardo; Illuminati, Fabrizio

2008-10-01

We investigate the structural aspects of genuine multipartite entanglement in Gaussian states of continuous variable systems. Generalizing the results of Adesso and Illuminati [Phys. Rev. Lett. 99, 150501 (2007)], we analyze whether the entanglement shared by blocks of modes distributes according to a strong monogamy law. This property, once established, allows us to quantify the genuine N -partite entanglement not encoded into 2,…,K,…,(N-1) -partite quantum correlations. Strong monogamy is numerically verified, and the explicit expression of the measure of residual genuine multipartite entanglement is analytically derived, by a recursive formula, for a subclass of Gaussian states. These are fully symmetric (permutation-invariant) states that are multipartitioned into blocks, each consisting of an arbitrarily assigned number of modes. We compute the genuine multipartite entanglement shared by the blocks of modes and investigate its scaling properties with the number and size of the blocks, the total number of modes, the global mixedness of the state, and the squeezed resources needed for state engineering. To achieve the exact computation of the block entanglement, we introduce and prove a general result of symplectic analysis: Correlations among K blocks in N -mode multisymmetric and multipartite Gaussian states, which are locally invariant under permutation of modes within each block, can be transformed by a local (with respect to the partition) unitary operation into correlations shared by K single modes, one per block, in effective nonsymmetric states where N-K modes are completely uncorrelated. Due to this theorem, the above results, such as the derivation of the explicit expression for the residual multipartite entanglement, its nonnegativity, and its scaling properties, extend to the subclass of non-symmetric Gaussian states that are obtained by the unitary localization of the multipartite entanglement of symmetric states. These findings provide strong

Long-term Auditory Symptoms in Patients With Sporadic Vestibular Schwannoma: An International Cross-Sectional Study.

Science.gov (United States)

Tveiten, Oystein Vesterli; Carlson, Matthew L; Goplen, Frederik; Vassbotn, Flemming; Link, Michael J; Lund-Johansen, Morten

2015-08-01

There are limited data on the long-term auditory symptoms in patients with sporadic small- and medium-sized vestibular schwannoma (VS). The initial treatment strategy for VS is controversial. To characterize auditory symptoms in a large cohort of patients with VS. Patients with ≤3 cm VS who underwent primary microsurgery, gamma knife surgery, or observation between 1998 and 2008 at 2 independent hospitals were identified. Clinical data were extracted from existing VS databases. At a mean time of 7.7 years after initial treatment, patients were surveyed via mail with the use of the Hearing Handicap Inventory for Adults (HHIA) and the Tinnitus Handicap Inventory. The response rate was 79%; a total of 539 respondents were analyzed. Overall, the hearing prognosis was poor, because more than 75% of all patients had nonserviceable hearing at the last clinical follow-up. Good baseline hearing proved to be a strong predictor for maintained serviceable hearing. Treatment modality was independently associated with both audiometric outcome and HHIA results. Active treatment with microsurgery or gamma knife surgery did not appear to be protective, because patients who were observed had the greatest probability of durable hearing. Patients in the surgical series had the greatest hearing loss. Tinnitus Handicap Inventory results were less predictable. The only predictors of tinnitus handicap were age and HHIA score. The overall prognosis for hearing in sporadic VS is poor regardless of treatment strategy. Treatment modality was an independent predictor of hearing status; observation was associated with the highest rate of hearing preservation. .

Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

Directory of Open Access Journals (Sweden)

Alexandra V Stavropoulou

Full Text Available Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% to 50%. A variable incidence of mutations has been reported for these genes in ovarian cancer cases from different populations. In Greece, six mutations in BRCA1 account for 63% of all mutations detected in both BRCA1 and BRCA2 genes. This study aimed to determine the prevalence of BRCA1 mutations in a Greek cohort of 106 familial ovarian cancer patients that had strong family history or metachronous breast cancer and 592 sporadic ovarian cancer cases. All 698 patients were screened for the six recurrent Greek mutations (including founder mutations c.5266dupC, p.G1738R and the three large deletions of exon 20, exons 23-24 and exon 24. In familial cases, the BRCA1 gene was consequently screened for exons 5, 11, 12, 20, 21, 22, 23, 24. A deleterious BRCA1 mutation was found in 43/106 (40.6% of familial cancer cases and in 27/592 (4.6% of sporadic cases. The variant of unknown clinical significance p.V1833M was identified in 9/698 patients (1.3%. The majority of BRCA1 carriers (71.2% presented a high-grade serous phenotype. Identifying a mutation in the BRCA1 gene among breast and/or ovarian cancer families is important, as it enables carriers to take preventive measures. All ovarian cancer patients with a serous phenotype should be considered for genetic testing. Further studies are warranted to determine the prevalence of mutations in the rest of the BRCA1 gene, in the BRCA2 gene, and other novel predisposing genes for breast and ovarian cancer.

Facing and managing natural disasters in the Sporades islands, Greece

Science.gov (United States)

Karanikola, P.; Panagopoulos, T.; Tampakis, S.; Karantoni, M. I.; Tsantopoulos, G.

2014-04-01

The region of the Sporades islands located in central Greece is at the mercy of many natural phenomena, such as earthquakes due to the marine volcano Psathoura and the rift of Anatolia, forest fires, floods, landslides, storms, hail, snowfall and frost. The present work aims at studying the perceptions and attitudes of the residents regarding how they face and manage natural disasters. A positive public response during a hazard crisis depends not only upon the availability and good management of a civil defense plan but also on the knowledge and perception of the possible hazards by the local population. It is important for the stakeholders to know what the citizens expect so that the necessary structures can be developed in the phase of preparation and organization. The residents were asked their opinion about what they think should be done by the stakeholders after a catastrophic natural disaster, particularly about the immediate response of stakeholders and their involvement and responsibilities at different, subsequent intervals of time following the disaster. The residents were also asked about the most common disasters that happen in their region and about the preparation activities of the stakeholders.

Allele doses of apolipoprotein E type {epsilon}4 in sporadic late-onset Alzheimer`s disease

Energy Technology Data Exchange (ETDEWEB)

Lucotte, G.; Aouizerate, A.; Gerard, N. [Regional Center of Neurogenetics, Paris (France)] [and others

1995-12-18

Apoliprotein E, type {epsilon}4 allele (ApoE-{epsilon}4) is associated with late-onset sporadic Alzheimer`s disease (AD). We have found that the cumulative probability of remaining unaffected over time decreases for each dose of ApoE-{epsilon}4 in sporadic, late-onset French AD. The effect of genotypes on age at onset of AD was analyzed using the product limit method, to compare unaffected groups during aging. 26 refs., 2 figs., 1 tab.

Physical function and muscle strength in sporadic inclusion body myositis

DEFF Research Database (Denmark)

Jørgensen, Anders N; Aagaard, Per; Nielsen, Jakob L

2017-01-01

INTRODUCTION: In this study, self-reported physical function, functional capacity, and isolated muscle function were investigated in sporadic inclusion body myositis (sIBM) patients. METHODS: The 36-item Short Form (SF-36) Health Survey and 2-min walk test (2MWT), timed up & go test (TUG), and 30-s...

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.

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

Science.gov (United States)

Kimmich, Okka; Bradley, David; Whelan, Robert; Mulrooney, Nicola; Reilly, Richard B; Hutchinson, Siobhan; O'Riordan, Sean; Hutchinson, Michael

2011-09-01

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), 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.

CpG methylation of APC promoter 1A in sporadic and familial breast cancer patients.

Science.gov (United States)

Debouki-Joudi, Saoussen; Trifa, Fatma; Khabir, Abdelmajid; Sellami-Boudawara, Tahia; Frikha, Mounir; Daoud, Jamel; Mokdad-Gargouri, Raja

2017-01-01

Tumour suppressor gene (TSG) silencing through promoter hypermethylation plays an important role in cancer initiation. The aim of this study was to assess the extent of methylation of APC gene promoter in 91 sporadic and 44 familial cases of Tunisian patients with breast cancer (BC) in. The frequency of APC promoter methylation is somewhat similar for sporadic and familial breast cancer cases, (52.1%, and 54.5% respectively). For sporadic breast cancer patients, there was a significant correlation of APC promoter hypermethylation with TNM stage (p = 0.024) and 3-year survival (p = 0.025). Regarding the hormonal status (HR), we found significant association between negativity to PR and unmethylated APC (p= 0.005) while ER and Her2/neu are not correlated. Moreover, unmethylated APC promoter is more frequent in tumours expressing at least one out the 3 proteins compared to triple negative cases (p= 0.053). On the other hand, aberrant methylation of APC was associated with tumour size (p = 0.036), lymph node (p = 0.028), distant metastasis (p = 0.031), and 3-year survival (p = 0.046) in the group of patients with familial breast cancer. Moreover, patients with sporadic breast cancer displaying the unmethylated profile have a significant prolonged overall survival compared to those with the methylated pattern of APC promoter (p log rank = 0.008). Epigenetic change at the CpG islands in the APC promoter was associated with the silence of its transcript and the loss of protein expression suggesting that this event is the main mechanism regulating the APC expression in breast cancer. In conclusion, our data showed that the loss of APC through aberrant methylation is associated with the aggressive behavior of both sporadic and familial breast cancer in Tunisian patients.

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

Energy Technology Data Exchange (ETDEWEB)

Garcia Santos, J.M. [Servicio de Radiodiagnostico, HU Dr. Morales Meseguer, Murcia (Spain)]|[Section of Neuroradiology, HU Virgen de la Arrixaca, Murcia (Spain); Lopez Corbalan, J.A. [Section of Neuroradiology, HU Virgen de la Arrixaca, Murcia (Spain); Martinez-Lage, J.F. [Service of Neurosurgery, HU Virgen de la Arrixaca, Murcia (Spain); Sicilis Guillen, J. [Service of Neurology, HU Virgen de la Arrixaca, Murcia (Spain)

1996-04-01

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.)

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

International Nuclear Information System (INIS)

Garcia Santos, J.M.; Lopez Corbalan, J.A.; Martinez-Lage, J.F.; Sicilis Guillen, J.

1996-01-01

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.)

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

Science.gov (United States)

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

2011-05-01

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

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

DEFF Research Database (Denmark)

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

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...

Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer.

Science.gov (United States)

Stevanato Filho, Paulo Roberto; Aguiar Júnior, Samuel; Begnami, Maria Dirlei; Kuasne, Hellen; Spencer, Ranyell Matheus; Nakagawa, Wilson Toshihiko; Bezerra, Tiago Santoro; Kupper, Bruna Catin; Takahashi, Renata Maymi; Barros Filho, Mateus; Rogatto, Silvia Regina; Lopes, Ademar

2017-11-13

Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas are poorly described. This study aimed to investigate the expression levels of the ERβ1, ERβ2, ERβ4 and ERβ5 isoform variants using quantitative RT-PCR (921 analyses) in FAP, normal mucosa, adenomatous polyps and sporadic colorectal carcinomas. Decreased expression of ERβ isoforms was identified in sporadic polyps and in sporadic colorectal cancer as well as in polyps from FAP syndrome patients compared with normal tissues (p colorectal carcinomas were compared to normal mucosa tissues. These findings suggest an association of the ERβ isoform variants in individuals affected by germline mutations of the APC gene. Progressively decreased expression of ERβ was found in polyps at early stages of low-grade dysplasia, followed by T1-T2 and T3-T4 tumours (p colorectal cancer, the loss of expression was an independent predictor of recurrence, and ERβ1 and ERβ5 expression levels were associated with better disease-free survival (p = 0.002). These findings may provide a better understanding of oestrogens and their potential preventive and therapeutic effects on sporadic colorectal cancer and cancers associated with FAP syndrome.

Earth's influx of different populations of sporadic meteoroids from photographic and television data

International Nuclear Information System (INIS)

Ceplecha, Z.

1988-01-01

Precise photographic and television double- and multi-station data on 3624 sporadic meteors in the mass range from 2 x 10 -5 grams to 2 x 10 7 grams form the basis of this paper. The applied classification criteria and procedures are defined and described. A survey of 7 different populations of sporadic meteoroids known so far is presented. The total numbers and masses of meteoroids as a function of mass are given for individual groups and for all sporadic meteors. The absolute calibration of the influx to the Earth was carried out by comparison with the results of Halliday et al. (1984). The comparison with the visual and cratering data revealed good agreement in the narrow ''visual'' interval of masses, and disagreement in the extrapolated parts of the visual and cratering flux curves. The slope of the cumulative number curve for the meteorite-dropping fireballs (type I) with masses larger than 1 kg was found as -0.69 in perfect agreement with the results of Halliday et al. (1984). The final mass scale derived in this paper is situated between the scale of McCrosky and the scale of Halliday. The relative significance of the different groups of meteoroids changes with the mass quite dramatically. The total influx of sporadic meteoroids in the mass interval of 12 orders from 2 x 10 7 to 2 x 10 -5 grams resulted in 5 x 10 9 grams per year for the entire Earth's surface. Most of this mass comes in the form of larger meteoroids. Bulk densities and ablation coefficient are presented for the individual meteor groups depending on different ablation models of several authors and some extreme concepts of this problem are discussed. (author). 3 figs., 6 tabs., 38 refs

Sporadic nocturnal frontal lobe epilepsy: A consecutive series of 8 cases

Directory of Open Access Journals (Sweden)

Shih-Bin Yeh

2014-09-01

Discussion: These cases confirm that sporadic NFLE closely resembles familial NFLE, and comprises a set of distinct clinical manifestations, with variable intensity, and variable scalp EEG epileptiform abnormalities across sleep and wakefulness, which have previously been identified in Caucasian patients from Europe and North America.

CSF Neurofilament Proteins Levels are Elevated in Sporadic Creutzfeldt-Jakob Disease

NARCIS (Netherlands)

van Eijk, Jeroen J. J.; van Everbroeck, Bart; Abdo, W. Farid; Kremer, Berry P. H.; Verbeek, Marcel M.

2010-01-01

In this study we investigated the cerebrospinal fluid (CSF) levels of neurofilament light (NFL) and heavy chain (NFHp35), total tau (t-tau), and glial fibrillary acidic protein (GFAP) to detect disease specific profiles in sporadic Creutzfeldt Jakob disease (sCJD) patients and Alzheimer's disease

Equilibration of a strongly interacting plasma: holographic analysis of local and nonlocal probes

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Bellantuono Loredana

2016-01-01

Full Text Available The relaxation of a strongly coupled plasma towards the hydrodynamic regime is studied by analyzing the evolution of local and nonlocal observables in the holographic approach. The system is driven in an initial anisotropic and far-from equilibrium state through an impulsive time-dependent deformation (quench of the boundary spacetime geometry. Effective temperature and entropy density are related to the position and area of a black hole horizon, which has formed as a consequence of the distortion. The behavior of stress-energy tensor, equal-time correlation functions and Wilson loops of different shapes is examined, and a hierarchy among their thermalization times emerges: probes involving shorter length scales thermalize faster.

Strong influence of regional species pools on continent-wide structuring of local communities

DEFF Research Database (Denmark)

Lessard, Jean-Philippe; Borregaard, Michael Krabbe; Fordyce, James A.

2012-01-01

pool, to examine the interplay between broad-scale evolutionary and fine-scale ecological processes. Finally, a renewed interest in the influence of species source pools on communities has shown that the definition of the source pool influences interpretations of patterns of community structure. We use...... of communities along climatic gradients. We find that the average phylogenetic relatedness of species in ant communities decreases from tropical to temperate regions, but the strength of this relationship depends on the level of ecological realism in the definition of source pools. We conclude that the evolution...... of climatic niches influences the phylogenetic structure of regional source pools and that the influence of regional source pools on local community structure is strong....

Modelling the effects of penetrance and family size on rates of sporadic and familial disease.

Science.gov (United States)

Al-Chalabi, Ammar; Lewis, Cathryn M

2011-01-01

Many complex diseases show a diversity of inheritance patterns ranging from familial disease, manifesting with autosomal dominant inheritance, through to simplex families in which only one person is affected, manifesting as apparently sporadic disease. The role of ascertainment bias in generating apparent patterns of inheritance is often overlooked. We therefore explored the role of two key parameters that influence ascertainment, penetrance and family size, in rates of observed familiality. We develop a mathematical model of familiality of disease, with parameters for penetrance, mutation frequency and family size, and test this in a complex disease: amyotrophic lateral sclerosis. Monogenic, high-penetrance variants can explain patterns of inheritance in complex diseases and account for a large proportion of those with no apparent family history. With current demographic trends, rates of familiality will drop further. For example, a variant with penetrance 0.5 will cause apparently sporadic disease in 12% of families of size 10, but 80% of families of size 1. A variant with penetrance 0.9 has only an 11% chance of appearing sporadic in families of a size similar to those of Ireland in the past, compared with 57% in one-child families like many in China. These findings have implications for genetic counselling, disease classification and the design of gene-hunting studies. The distinction between familial and apparently sporadic disease should be considered artificial. Copyright © 2011 S. Karger AG, Basel.

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

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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

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

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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

Diffusion MR imaging in sporadic Creutzfeldt-Jakob disease

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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

Cognitive disorders after sporadic ecstasy use? A case report.

Science.gov (United States)

Ruis, Carla; Postma, Albert; Bouvy, Willem; van der Ham, Ineke

2015-01-01

Memory problems and changes in hippocampal structures after chronic ecstasy use are well described in the literature. Cognitive problems after incidental ecstasy use are rare, and the few patients described in case reports returned to their normal cognitive level after a relative short period. FV is a 39-year-old man who used an ecstasy tablet in 2005. This resulted in severe confusion for a few days. The confusion was followed by persistent memory complaints and difficulties orientating in new surroundings. An extensive neuropsychological examination 7 years after the ecstasy use revealed a severe memory disorder. Furthermore, his performance on a virtual reality test of navigation showed serious problems navigating in new surroundings. In comparison with matched control subjects (Bayesian approach for single case studies) his scores were significantly impaired on several subtasks of the navigation test. On a magnetic resonance imaging (MRI) scan of the brain bilateral hippocampal atrophy and sclerosis were visible, comparable to previous MRI studies describing hippocampal damage following ecstasy ingestion. This case report describes persistent memory and navigation disorders after sporadic ecstasy use, supported by structural brain abnormalities seen on the MRI scan. These findings revive the debate on whether sporadic ecstasy use can cause persistent cognitive deficits.

Field emission properties and strong localization effect in conduction mechanism of nanostructured perovskite LaNiO{sub 3}

Energy Technology Data Exchange (ETDEWEB)

Kamble, Ramesh B., E-mail: rbk.physics@coep.ac.in [Department of Physics, Indian Institute of Science, Bangalore 560012, Karnataka (India); Department of Physics, College of Engineering, Pune 411005, Maharashtra (India); Tanty, Narendra; Patra, Ananya; Prasad, V. [Department of Physics, Indian Institute of Science, Bangalore 560012, Karnataka (India)

2016-08-22

We report the potential field emission of highly conducting metallic perovskite lanthanum nickelate (LaNiO{sub 3}) from the nanostructured pyramidal and whisker shaped tips as electron emitters. Nano particles of lanthanum nickelate (LNO) were prepared by sol-gel route. Structural and morphological studies have been carried out. Field emission of LNO exhibited high emission current density, J = 3.37 mA/cm{sup 2} at a low threshold electric field, E{sub th} = 16.91 V/μm, obeying Fowler–Nordheim tunneling. The DC electrical resistivity exhibited upturn at 11.6 K indicating localization of electron at low temperature. Magnetoresistance measurement at different temperatures confirmed strong localization in nanostructured LNO obeying Anderson localization effect at low temperature.

Local Magnetism in Strongly Correlated Electron Systems with Orbital Degrees of Freedom

Science.gov (United States)

Ducatman, Samuel Charles

The central aim of my research is to explain the connection between the macroscopic behavior and the microscopic physics of strongly correlated electron systems with orbital degrees of freedom through the use of effective models. My dissertation focuses on the sub-class of these materials where electrons appear to be localized by interactions, and magnetic ions have well measured magnetic moments. This suggests that we can capture the low-energy physics of the material by employing a minimal model featuring localized spins which interact with each other through exchange couplings. I describe Fe1+y Te and beta-Li2IrO3 with effective models primarily focusing on the spins of the magnetic ions, in this case Fe and Ir, respectively. The goal with both materials is to gain insight and make predictions for experimentalists. In chapter 2, I focus on Fe1+yTe. I describe why we believe the magnetic ground state of this material, with an observed Bragg peak at Q +/- pi/2, pi/2), can be described by a Heisenberg model with 1st, 2nd, and 3rd neighbor interactions. I present two possible ground states of this model in the small J1 limit, the bicollinear and plaquette states. In order to predict which ground state the model prefers, I calculate the spin wave spectrum with 1/S corrections, and I find the model naturally selects the "plaquette state." I give a brief description of the ways this result could be tested using experimental techniques such as polarized neutron scattering. In chapter 3, I extend the model used in chapter 2. This is necessary because the Heisenberg model we employed cannot explain why Fe1+yTe undergoes a phase transition as y is increased. We add an additional elements to our calculation; we assume that electrons in some of the Fe 3D orbitals have selectively localized while others remain itinerant. We write a new Hamiltonian, where localized moments acquire a new long-range RKKY-like interaction from interactions with the itinerant electrons. We are

Localized malignant pleural mesothelioma: report of two cases.

Science.gov (United States)

Tanzi, Silvia; Tiseo, Marcello; Internullo, Eveline; Cacciani, Giancarlo; Capra, Roberto; Carbognani, Paolo; Rusca, Michele; Rindi, Guido; Ardizzoni, Andrea

2009-08-01

Localized malignant pleural mesothelioma is very rare tumor disease. There are sporadic reports in the literature showing that this entity has a different biologic behavior compared with diffuse pleural mesothelioma. We report two cases of radically resected localized pleural malignant mesothelioma, with a previous history of asbestos exposure. Both cases showed a microscopic and immunohistochemical findings of malignant mesothelioma, biphasic and sarcomatoid lympho-histiocitoid variant type, respectively, without evidence of diffuse pleural spread. The first is very peculiar case of bilateral localized malignant pleural mesothelioma with complete response to chemotherapy and localized late recurrence, radically resected and treated with adjuvant radiotherapy. The second case revealed as a solitary localized mass, underwent a complete en bloc resection and adjuvant radiotherapy. Both cases demonstrate that the localized malignant mesothelioma should be distinguished from diffuse form and that complete resection is associated with good prognosis.

Comparison between hearing screening-detected cases and sporadic cases of delayed-onset hearing loss in preschool-age children.

Science.gov (United States)

Lü, Jingrong; Huang, Zhiwu; Ma, Yan; Li, Yun; Mei, Ling; Yao, Guoyin; Wang, Yu; Shen, Xiaoming; Wu, Hao

2014-04-01

This study aimed to compare the diagnosis and ages of intervention for cases of delayed-onset hearing loss identified sporadically or via a preschool hearing screening program. Retrospective study with the comparative analysis of two groups of children. Cases identified from screening were selected from 34 321 preschool children who underwent screening for delayed-onset hearing loss between October 2009 and May 2011. Sporadic cases of delayed-onset hearing loss were selected from pediatric clinical records. Cases from the first group were excluded from the latter to avoid duplication. Two groups were given the same questionnaire to record risk indicators, diagnosis, and age at intervention. The average age of 26 children at the time of diagnosis in the screening group (52.81 ± 13.23 months) was significantly earlier than in the 33 cases identified in the sporadic group (62.03 ± 12.86 months; p children with bilateral moderate to severe hearing loss in the screening group (50.40 ± 10.76 months) was also earlier than in the sporadic group (62.73 ± 13.77 months; p hearing screening for preschool children with no significant symptoms of delayed-onset hearing loss.

Strong coupling between localized 5f moments and itinerant quasiparticles in the ferromagnetic superconductor UGe2

Science.gov (United States)

Zhang, Wen; Liu, Yi; Wang, Xiaoying; Zhang, Yun; Xie, Donghua

2018-03-01

The heavy fermion physics arises from the complex interplay of nearly localized 4f/5f electrons and itinerant band-like ones, yielding heavy quasiparticles with an effective mass about 100 times (or more) of the bare electrons. Recently, experimental and theoretical investigations point out a localized and delocalized dual nature in actinide compounds, where itinerant quasiparticles account for the unconventional superconductivity in the vicinity of a magnetic instability. Here we report the strong coupling between localized 5f moments and itinerant quasiparticles in the ferromagnetic superconductor UGe2. The coupling is nearly antiferromagnetic. As embedded in the ferromagnetic matrix of localized 5f moments below {T}{{C}}≈ 52 {{K}}, this coupling leads to short-range dynamic correlations of heavy quasiparticles, characterized by fluctuations of magnetic clusters. Those cluster-like spins of itinerant quasiparticles show a broad hump of magnetization at {T}X≈ 28 {{K}}, which is typical for the spin-glass freezing. Thus, our results present the direct observation of itinerant quasiparticles coexisting with localized 5f moments by conventional magnetic measurements, providing a new route into the coexistence between ferromagnetism and superconductivity in heavy fermion systems. Project supported by the National Natural Science Foundation of China (Grant No. 11404297), the Science Challenge Project (Grant No. TZ2016004), and the Science and Technology Foundation of China Academy of Engineering Physics (Grant Nos. 2013B0301050 and 2014A0301013).

Independent Induction of Caspase-8 and cFLIP Expression during Colorectal Carcinogenesis in Sporadic and HNPCC Adenomas and Carcinomas

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D. M. Heijink

2007-01-01

Full Text Available Background: TNF-Related Apoptosis Inducing Ligand (TRAIL is a promising agent for the induction of apoptosis in neoplastic tissues. Important determinants of TRAIL sensitivity are two intracellular proteins of the TRAIL pathway, caspase-8 and its anti-apoptotic competitor cellular Flice-Like Inhibitory Protein (cFLIP. Methods: The aim of this study was to investigate basic expression of caspase-8 and cFLIP in normal colorectal epithelium (n = 20, colorectal adenomas (n = 66 and colorectal carcinomas (n = 44 using immunohistochemistry performed on both sporadic and Hereditary Non-Polyposis Colorectal Cancer (HNPCC or Lynch syndrome-associated adenomas and carcinomas. Results: Expression of both caspase-8 and cFLIP was similar in cases with sporadic and hereditary origin. Expression of caspase-8 in colorectal adenomas and carcinomas was increased when compared to normal colon tissue (P = 0.02. Nuclear, paranuclear as well as cytoplasmic localizations of caspase-8 were detected. Immunohistochemistry revealed an upregulation of cFLIP in colorectal carcinomas in comparison to normal epithelium and colorectal adenomas (P < 0.001. A large variation in the caspase-8/cFLIP ratio was observed between the individual adenomas and carcinomas. Conclusion: Caspase-8 and cFLIP are upregulated during colorectal carcinogenesis. Upregulation of caspase-8 and/or downregulation of cFLIP may be interesting approaches to maximize TRAIL sensitivity in colorectal neoplasms.

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.

Anorectal function and morphology in patients with sporadic proctalgia fugax.

Science.gov (United States)

Eckardt, V F; Dodt, O; Kanzler, G; Bernhard, G

1996-07-01

The pathophysiology of sporadic proctalgia fugax remains unknown. This study investigates whether patients with this syndrome exhibit alterations in anal function and morphology. Eighteen patients with sporadic proctalgia fugax and 18 sex-matched and age-matched healthy controls were studied. Manometric studies investigated anal resting and squeeze pressures, the rectoanal inhibitory reflex, rectal compliance, and smooth muscle response to edrophonium chloride administration. External and internal sphincter thickness was measured endosonographically. Patients had slightly higher (P = 0.0291) anal resting pressures (65.5 +/- 11.4 mmHg) than controls (56 +/- 9.9 mmHg). However, anal squeeze pressure, sphincter relaxation during rectal distention, and rectal compliance were similar in both groups, and no alterations were detected in external and internal anal sphincter thickness. Edrophonium chloride administration was followed by sharp postrelaxation contractions in two patients, whereas anal function remained unaltered in controls. Acute episodes of proctalgia, which occurred in two patients while under study, were associated with a rise in anal resting tone and an increase in slow wave amplitude. In the resting state, patients with proctalgia fugax have normal anorectal function and morphology. However, they may exhibit a motor abnormality of the anal smooth muscle during an acute attack.

MRI in sporadic Creutzfeldt-Jakob disease: Correlation with clinical and neuropathological data

International Nuclear Information System (INIS)

Urbach, H.; Solymosi, L.; Klisch, J.; Brechtelsbauer, D.; Wolf, H.K.; Gass, S.

1998-01-01

To ascertain whether increased grey matter signal intensity on T2-weighted images in patients with sporadic Creutzfeldt-Jakob disease (CJD) corresponds to the stage and severity of this disease, we correlated MRI findings in four of our own and previously reported patients with sporadic CJD with the clinical variants, neuropathological changes at autopsy, duration of the disease and survival time after MRI examination. Of 15 patients with the extrapyramidal type of CJD, 10 showed increased signal in the basal ganglia on T2-weighted images. One of seven patients with the Heidenhain variant had increased signal in the occipital cortex. Patients without increased grey matter signal intensity had a longer overall duration of CJD (P = 0.035). Although the interval between onset of neurological symptoms and MRI was not different, patients without increased grey matter signal also survived longer after MRI examination (P = 0.022). (orig.)

Transarterial ethanol ablation for sporadic and non-hemorrhaging angiomyolipoma in the kidney

International Nuclear Information System (INIS)

Takebayashi, Shigeo; Horikawa, Ayumi; Arai, Mito; Iso, Shinichiroh; Noguchi, Kazumi

2009-01-01

Purpose: We evaluated the efficacy and side effects of transarterial ethanol ablation in sporadic and non-hemorrhaging angiomyolipomas (AMLs) in the kidney. Material and Methods: A total of 10 patients with solitary and sporadic AMLs underwent selective transarterial absolute ethanol ablation for prophylaxis against hemorrhage. We confirmed the ratio areas of tumor vessel on angiogram, those of infraction on post-ablation computed tomography (CT) and those of tumor reduction in a 3-, 6- and 12-month follow-up CT. Results: Once or twice a single infusion of 1 or 2 ml absolute ethanol achieved in a total occlusion of 22 feeding arteries which consisted of 7 proximal interlobar arteries, 12 distal interlobar arteries and 3 renal capsular arteries. Nontarget occlusion did not occur by ethanol reflux in any cases but occurred causing spasms provoked by repeated inflation and deflation of the balloon in one case. Total occlusion of tumor vessels was observed in 7 patients and 92-95% occlusion in 3. Ethanol ablation produced 1.8-22.5% (mean 8.4 ± 6.8%) areas of infarctions but the outcome was not serious in all cases. Mean percentage areas of tumor reduction were 29.4 ± 10.6% in a 3-month follow-up, 45.7 ± 11.9% in a 6-month and 59.3 ± 11.5% in a 12-month follow-up. Conclusions: Absolute ethanol ablation for sporadic and non-hemorrhaging AML is safe and effective in reducing majority of tumor area in a 1-year follow-up.

Gender- and age-dependent gamma-secretase activity in mouse brain and its implication in sporadic Alzheimer disease.

Directory of Open Access Journals (Sweden)

Lisa Placanica

Full Text Available Alzheimer disease (AD is an age-related disorder. Aging and female gender are two important risk factors associated with sporadic AD. However, the mechanism by which aging and gender contribute to the pathogenesis of sporadic AD is unclear. It is well known that genetic mutations in gamma-secretase result in rare forms of early onset AD due to the aberrant production of Abeta42 peptides, which are the major constituents of senile plaques. However, the effect of age and gender on gamma-secretase has not been fully investigated. Here, using normal wild-type mice, we show mouse brain gamma-secretase exhibits gender- and age-dependent activity. Both male and female mice exhibit increased Abeta42ratioAbeta40 ratios in aged brain, which mimics the effect of familial mutations of Presenilin-1, Presenlin-2, and the amyloid precursor protein on Abeta production. Additionally, female mice exhibit much higher gamma-secretase activity in aged brain compared to male mice. Furthermore, both male and female mice exhibit a steady decline in Notch1 gamma-secretase activity with aging. Using a small molecule affinity probe we demonstrate that male mice have less active gamma-secretase complexes than female mice, which may account for the gender-associated differences in activity in aged brain. These findings demonstrate that aging can affect gamma-secretase activity and specificity, suggesting a role for gamma-secretase in sporadic AD. Furthermore, the increased APP gamma-secretase activity seen in aged females may contribute to the increased incidence of sporadic AD in women and the aggressive Abeta plaque pathology seen in female mouse models of AD. In addition, deceased Notch gamma-secretase activity may also contribute to neurodegeneration. Therefore, this study implicates altered gamma-secretase activity and specificity as a possible mechanism of sporadic AD during aging.

Health professions and risk of sporadic Creutzfeldt- Jakob disease, 1965 to 2010

NARCIS (Netherlands)

E. Alcalde-Cabero; J. Almazán-Isla; J-P. Brandel (Jean-Philippe); M. Breithaupt; J. Catarino; S.J. Collins (Steven); J. Haybäck; R. Höftberger (Romana); E. Kahana; G.G. Kovacs (Gabor); A. Ladogana (Anna); E. Mitrová (Eva); A. Molesworth; Y. Nakamura; M. Pocchiari (Maurizio); M. Popovic; M. Ruiz-Tovar; A. Taratuto; C. van Duin; M. Yamada; R.G. Will (Robert); I. Zerr (Inga); J. de Pedro-Cuesta (Jesús)

2012-01-01

textabstractIn 2009, a pathologist with sporadic Creutzfeldt- Jakob Disease (sCJD) was reported to the Spanish registry. This case prompted a request for information on health-related occupation in sCJD cases from countries participating in the European Creutzfeldt Jakob Disease Surveillance network

TDP-43 in Familial and Sporadic Frontotemporal Lobar Degeneration with Ubiquitin Inclusions

NARCIS (Netherlands)

Cairns, Nigel J.; Neumann, Manuela; Bigio, Eileen H.; Holm, Ida E.; Troost, Dirk; Hatanpaa, Kimmo J.; Foong, Chan; White, Charles L.; Schneider, Julie A.; Kretzschmar, Hans A.; Carter, Deborah; Taylor-Reinwald, Lisa; Paulsmeyer, Katherine; Strider, Jeffrey; Gitcho, Michael; Goate, Alison M.; Morris, John C.; Mishrall, Manjari; Kwong, Linda K.; Stieber, Anna; Xu, Yan; Forman, Mark S.; Trojanowski, John Q.; Lee, Virginia M.-Y.; Mackenzie, Ian R. A.

2007-01-01

TAR DNA-binding protein 43 (TDP-43) is a major pathological protein of sporadic and familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions (FTLD-U) with or without motor neuron disease (MND). Thus, TDP-43 defines a novel class of neurodegenerative diseases called

BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.

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Ainur R. Akilzhanova

2013-05-01

Full Text Available Background: A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women. Aim: To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer. Methods: We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing. Results: We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms were observed. In BRCA2, 7 missense mutations and 3 polymorphisms were detected. There was a higher prevalence of observed mutations in Caucasian breast cancer cases compared to Asian cases (p<0.05; higher frequencies of sequence variants were observed in Asian controls. No recurrent or founder mutations were observed in BRCA1/2 genes. There were no statistically significant differences in age at diagnosis, tumor histology, size of tumor, and lymph node involvement between women with breast cancer with or without the BRCA sequence alterations. Conclusions: Considering the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of BRCA1/2 mutations and reliable genetic counseling for Kazakhstan sporadic breast cancer patients. Evaluation of common polymorphisms and mutations and breast cancer risk in families with genetic predisposition to breast cancer is ongoing in another current investigation. 

MRI in sporadic Creutzfeldt-Jakob disease: Correlation with clinical and neuropathological data

Energy Technology Data Exchange (ETDEWEB)

Urbach, H.; Solymosi, L. [Department of Neuroradiology, University of Wuerzburg (Germany); Klisch, J.; Brechtelsbauer, D. [Department of Neuroradiology, University of Bonn, Bonn (Germany); Wolf, H.K. [Department of Neuropathology, University of Bonn, Bonn (Germany); Gass, S. [Department of Neurology, University of Bonn, Bonn (Germany)

1998-02-01

To ascertain whether increased grey matter signal intensity on T2-weighted images in patients with sporadic Creutzfeldt-Jakob disease (CJD) corresponds to the stage and severity of this disease, we correlated MRI findings in four of our own and previously reported patients with sporadic CJD with the clinical variants, neuropathological changes at autopsy, duration of the disease and survival time after MRI examination. Of 15 patients with the extrapyramidal type of CJD, 10 showed increased signal in the basal ganglia on T2-weighted images. One of seven patients with the Heidenhain variant had increased signal in the occipital cortex. Patients without increased grey matter signal intensity had a longer overall duration of CJD (P = 0.035). Although the interval between onset of neurological symptoms and MRI was not different, patients without increased grey matter signal also survived longer after MRI examination (P = 0.022). (orig.) With 5 figs., 2 tabs., 23 refs.

Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas

Science.gov (United States)

Moura, M M; Cavaco, B M; Pinto, A E; Domingues, R; Santos, J R; Cid, M O; Bugalho, M J; Leite, V

2009-01-01

Screening of REarranged during Transfection (RET) gene mutations has been carried out in different series of sporadic medullary thyroid carcinomas (MTC). RET-positive tumours seem to be associated to a worse clinical outcome. However, the correlation between the type of RET mutation and the patients' clinicopathological data has not been evaluated yet. We analysed RET exons 5, 8, 10–16 in fifty-one sporadic MTC, and found somatic mutations in thirty-three (64.7%) tumours. Among the RET-positive cases, exon 16 was the most frequently affected (60.6%). Two novel somatic mutations (Cys630Gly, c.1881del18) were identified. MTC patients were divided into three groups: group 1, with mutations in RET exons 15 and 16; group 2, with other RET mutations; group 3, having no RET mutations. Group 1 had higher prevalence (P=0.0051) and number of lymph node metastases (P=0.0017), and presented more often multifocal tumours (P=0.037) and persistent disease at last control (P=0.0242) than group 2. Detectable serum calcitonin levels at last screening (P=0.0119) and stage IV disease (P=0.0145) were more frequent in group 1, than in the other groups. Our results suggest that, among the sporadic MTC, cases with RET mutations in exons 15 and 16 are associated with the worst prognosis. Cases with other RET mutations have the most indolent course, and those with no RET mutations have an intermediate risk. PMID:19401695

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

DEFF Research Database (Denmark)

Ferrari, Raffaele; Wang, Yunpeng; Vandrovcova, Jana

2017-01-01

BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders is still not well understood. Here we evaluated genetic overlap between...

Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients

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Hanae Takatsuki, PhD

2016-10-01

Full Text Available Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 106/g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 106/g SD50 did not exist the infectivity.

Strong Depletion in Hybrid Perovskite p-n Junctions Induced by Local Electronic Doping.

Science.gov (United States)

Ou, Qingdong; Zhang, Yupeng; Wang, Ziyu; Yuwono, Jodie A; Wang, Rongbin; Dai, Zhigao; Li, Wei; Zheng, Changxi; Xu, Zai-Quan; Qi, Xiang; Duhm, Steffen; Medhekar, Nikhil V; Zhang, Han; Bao, Qiaoliang

2018-04-01

A semiconductor p-n junction typically has a doping-induced carrier depletion region, where the doping level positively correlates with the built-in potential and negatively correlates with the depletion layer width. In conventional bulk and atomically thin junctions, this correlation challenges the synergy of the internal field and its spatial extent in carrier generation/transport. Organic-inorganic hybrid perovskites, a class of crystalline ionic semiconductors, are promising alternatives because of their direct badgap, long diffusion length, and large dielectric constant. Here, strong depletion in a lateral p-n junction induced by local electronic doping at the surface of individual CH 3 NH 3 PbI 3 perovskite nanosheets is reported. Unlike conventional surface doping with a weak van der Waals adsorption, covalent bonding and hydrogen bonding between a MoO 3 dopant and the perovskite are theoretically predicted and experimentally verified. The strong hybridization-induced electronic coupling leads to an enhanced built-in electric field. The large electric permittivity arising from the ionic polarizability further contributes to the formation of an unusually broad depletion region up to 10 µm in the junction. Under visible optical excitation without electrical bias, the lateral diode demonstrates unprecedented photovoltaic conversion with an external quantum efficiency of 3.93% and a photodetection responsivity of 1.42 A W -1 . © 2018 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Glycoform-selective prion formation in sporadic and familial forms of prion disease

NARCIS (Netherlands)

Xiao, X.; Yuan, J.; Haïk, S.; Cali, I.; Zhan, Y.; Moudjou, M.; Li, B.; Laplanche, J.L.; Laude, H.; Langeveld, J.P.M.; Gambetti, P.

2013-01-01

The four glycoforms of the cellular prion protein (PrP(C)) variably glycosylated at the two N-linked glycosylation sites are converted into their pathological forms (PrP(Sc)) in most cases of sporadic prion diseases. However, a prominent molecular characteristic of PrP(Sc) in the recently identified

Strongly disordered superconductors

International Nuclear Information System (INIS)

Muttalib, K.A.

1982-01-01

We examine some universal effects of strong non-magnetic disorder on the electron-phonon and electron-electron interactions in a superconductor. In particular we explicitly take into account the effect of slow diffusion of electrons in a disordered medium by working in an exact impurity eigenstate representation. We find that the normal diffusion of electrons characterized by a constant diffusion coefficient does not lead to any significant correction to the electron-phonon or the effective electron-electron interactions in a superconductor. We then consider sufficiently strong disorder where Anderson localization of electrons becomes important and determine the effect of localization on the electron-electron interactions. We find that due to localization, the diffusion of electrons becomes anomalous in the sense that the diffusion coefficient becomes scale dependent. This results in an increase in the effective electron-electron interaction with increasing disorder. We propose that this provides a natural explanation for the unusual sensitivity of the transition temperature T/sub c/ of the high T/sub c/ superconductors (T/sub c/ > 10 0 K) to damage effects

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

NARCIS (Netherlands)

Wills, A-M.; Cronin, S.; Slowik, A.; Kasperaviciute, D.; Van Es, M. A.; Morahan, J. M.; Valdmanis, P. N.; Meininger, V.; Melki, J.; Shaw, C. E.; Rouleau, G. A.; Fisher, E. M. C.; Shaw, P. J.; Morrison, K. E.; Pamphlett, R.; Van den Berg, L. H.; Figlewicz, D. A.; Andersen, P. M.; Al-Chalabi, A.; Hardiman, O.; Purcell, S.; Landers, J. E.; Brown, R. H.

2009-01-01

Background: Six candidate gene studies report a genetic association of DNA variants within the paraoxonase locus with sporadic amyotrophic lateral sclerosis (ALS). However, several other large studies, including five genome-wide association studies, have not duplicated this finding. Methods: We

Seasonal correlation of sporadic schizophrenia to Ixodes ticks and Lyme borreliosis

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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.

Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis.

NARCIS (Netherlands)

Es, M.A. van; Vught, P.W. van; Veldink, J.H.; Andersen, P.M.; Birve, A.; Lemmens, R.; Cronin, S.; Kooi, A.J. van der; Visser, M. de; Schelhaas, H.J.; Hardiman, O.; Ragoussis, I.; Lambrechts, D.; Robberecht, W.; Wokke, J.H.J.; Ophoff, R.A.; Berg, L.H. van den

2009-01-01

A genome-wide association study (GWAS) using pooled DNA samples from 386 sporadic ALS patients and 542 controls from the USA, identified genetic variation in FGGY (FLJ10986) as a risk factor, as well as 66 additional candidate SNPs. Considering the large number of hypotheses that are tested in GWAS,

The clinical phenotype of hereditary versus sporadic prostate cancer: HPC definition revisited

NARCIS (Netherlands)

Cremers, R.G.H.M.; Aben, K.K.H.; Oort, I.M. van; Sedelaar, J.P.M.; Vasen, H.F.A.; Vermeulen, S.H.; Kiemeney, L.A.L.M.

2016-01-01

BACKGROUND: The definition of hereditary prostate cancer (HPC) is based on family history and age at onset. Intuitively, HPC is a serious subtype of prostate cancer but there are only limited data on the clinical phenotype of HPC. Here, we aimed to compare the prognosis of HPC to the sporadic form

Susceptibility loci for sporadic brain arteriovenous malformation; a replication study and meta-analysis

NARCIS (Netherlands)

Kremer, P.H.; Koeleman, B.P.C.; Rinkel, G.J.; Diekstra, F.P.; Berg, L.H. van den; Veldink, J.H.; Klijn, C.J.M.

2016-01-01

BACKGROUND: Case-control studies have reported multiple genetic loci to be associated with sporadic brain arteriovenous malformations (AVMs) but most of these have not been replicated in independent populations. The aim of this study was to find additional evidence for these reported associations

Mechanism for the formation of sporadic-E layers in the high-latitude ionosphere

Energy Technology Data Exchange (ETDEWEB)

Vlasov, M.N.; Mishin, E.V.; Telegin, V.A.

1980-09-01

A model of the collective interaction of precipitating electrons and the ionospheric plasma is used to explain the formation of short-duration sporadic-E layers in the high-latitude ionosphere. The changes produced in electron density by this collective interaction mechanism are considered.

Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia.

Science.gov (United States)

Tischkowitz, M D; Morgan, N V; Grimwade, D; Eddy, C; Ball, S; Vorechovsky, I; Langabeer, S; Stöger, R; Hodgson, S V; Mathew, C G

2004-03-01

Fanconi anemia (FA) is an autosomal recessive chromosomal instability disorder caused by mutations in one of seven known genes (FANCA,C,D2,E,F,G and BRCA2). Mutations in the FANCA gene are the most prevalent, accounting for two-thirds of FA cases. Affected individuals have greatly increased risks of acute myeloid leukemia (AML). This raises the question as to whether inherited or acquired mutations in FA genes might be involved in the development of sporadic AML. Quantitative fluorescent PCR was used to screen archival DNA from sporadic AML cases for FANCA deletions, which account for 40% of FANCA mutations in FA homozygotes. Four heterozygous deletions were found in 101 samples screened, which is 35-fold higher than the expected population frequency for germline FANCA deletions (PFANCA in the AML samples with FANCA deletions did not detect mutations in the second allele and there was no evidence of epigenetic silencing by hypermethylation. However, real-time quantitative PCR analysis in these samples showed reduced expression of FANCA compared to nondeleted AML samples and to controls. These findings suggest that gene deletions and reduced expression of FANCA may be involved in the promotion of genetic instability in a subset of cases of sporadic AML.

Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients.

Science.gov (United States)

Takatsuki, Hanae; Fuse, Takayuki; Nakagaki, Takehiro; Mori, Tsuyoshi; Mihara, Ban; Takao, Masaki; Iwasaki, Yasushi; Yoshida, Mari; Murayama, Shigeo; Atarashi, Ryuichiro; Nishida, Noriyuki; Satoh, Katsuya

2016-10-01

Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 10 6 /g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 10 6 /g SD50 did not exist the infectivity. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

Route to strong localization of light: The role of disorder

KAUST Repository

Molinari, Diego P.; Fratalocchi, Andrea

2012-01-01

By employing Random Matrix Theory (RMT) and firstprinciple calculations, we investigated the behavior of Anderson localization in 1D, 2D and 3D systems characterized by a varying disorder. In particular, we considered random binary layer sequences in 1D and structurally disordered photonic crystals in two and three dimensions. We demonstrated the existence of a unique optimal degree of disorder that yields the strongest localization possible. In this regime, localized modes are constituted by defect states, which can show subwavelength confinement properties. These results suggest that disorder offers a new avenue for subwavelength light localization in purely dielectric media. © 2012 Optical Society of America.

Equatorial E Region Electric Fields and Sporadic E Layer Responses to the Recovery Phase of the November 2004 Geomagnetic Storm

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Moro, J.; Resende, L. C. A.; Denardini, C. M.; Xu, J.; Batista, I. S.; Andrioli, V. F.; Carrasco, A. J.; Batista, P. P.; Schuch, N. J.

2017-12-01

Equatorial E region electric fields (EEFs) inferred from coherent radar data, sporadic-E (Es) layers observed from a digital ionosonde data, and modeling results are used to study the responses of the equatorial E region over São Luís (SLZ, 2.3°S, 44.2°W, -7° dip angle), Brazil, during the super storm of November 2004. The EEF is presented in terms of the zonal (Ey) and vertical (Ez) components in order to analyze the corresponding characteristics of different types of Es seen in ionograms and simulated with the E region ionospheric model. We bring out the variabilities of Ey and Ez components with storm time changes in the equatorial E region. In addition, some aspects of the electric fields and Es behavior in three cases of weak, very weak, and strong Type II occurrences during the recovery phase of the geomagnetic storm are discussed. The connection between the enhanced occurrence and suppressions of the Type II irregularities and the q-type Es (Esq) controlled by electric fields, with the development or disruption of the blanketing sporadic E (Esb) layers produced by wind shear mechanism, is also presented. The mutual presence of Esq along with the Esb occurrences is a clear indicator of the secular drift of the magnetic equator and hence that of the equatorial electrojet (EEJ) over SLZ. The results show evidence about the EEJ and Es layer electrodynamics and coupling during geomagnetic disturbance time electric fields.

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

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

2015-11-01

When approaching a patient with suspected motor neuron disease (MND), the pattern of weakness on examination helps distinguish MND from other diseases of peripheral nerves, the neuromuscular junction, or muscle. MND is a clinical diagnosis supported by findings on electrodiagnostic testing. MNDs exist on a spectrum, from a pure lower motor neuron to mixed upper and lower motor neuron to a pure upper motor neuron variant. Amyotrophic lateral sclerosis (ALS) is a progressive mixed upper and lower motor neuron disorder, most commonly sporadic, which is invariably fatal. This article describes a pattern approach to identifying MND and clinical features of sporadic ALS. Copyright © 2015 Elsevier Inc. All rights reserved.

Sporadic manipulation in money markets with central bank standing facilities

OpenAIRE

Ewerhart, Christian; Cassola, Nuno; Ejerskov, Steen; Valla, Natacha

2004-01-01

In certain market environments, a large investor may benefit from building up a futures position first and trading subsequently in the spot market (Kumar and Seppi, 1992). The present paper identifies a variation of this type of manipulation that might occur in money markets with an interest rate corridor. We show that manipulation involving the use of central bank facilities would be observable only sporadically. The probability of manipulation decreases when the central bank uses an active ...

Strong carrier localization in stacking faults in semipolar (11-22) GaN

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Okur, Serdal; Monavarian, Morteza; Das, Saikat; Izyumskaya, Natalia; Zhang, Fan; Avrutin, Vitaliy; Morkoç, Hadis; Özgür, Ümit

2015-03-01

The effects of stacking faults (SFs) on optical processes in epitaxially grown semipolar (1122) GaN on m-sapphire substrate have been investigated in detail using steady-state photoluminescence (PL) and time- and polarization-resolved PL. We demonstrate that the carrier recombination dynamics are substantially influenced due to strong carrier localization in the stacking faults. In addition to nonradiative recombination, carrier trapping/detrapping and carrier transfer between the stacking faults and donors are also found to be among the mechanisms affecting the recombination dynamics at different temperatures. PL decay times of both I1-type BSF and 3.31 eV SF (E-type BSF or prismatic stacking fault) do not show temperature dependence up to 80 K while 3.31 eV SF exhibits longer PL decay times (~3 ns) at low temperatures as compared to I1-type BSF (~1 ns), indicative of lower efficiency for radiative recombination. After 80 K, PL decay times decreased by power of ~-1 and ~-2 for 3.31 eV SF and I1-type BSF, respectively. It is obtained from radiative decay times with respect to temperature that the carrier localization becomes higher in I1-type BSF compared to 3.31 eV SF increasing the temperature. I1-type BSF also shows higher PL intensity, which is attributed to larger density, and therefore, larger contribution to recombination dynamics as compared to other type of stacking faults. Polarization-resolved PL measurements also revealed that the degree of polarization for the I1-type BSF (0.30) was twice that for the 3.31 eV SF.

Localized surface disruptions observed by InSAR during strong earthquakes in Java and Hawai'i

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Poland, M.

2010-01-01

Interferometric Synthetic Aperture Radar data spanning strong earthquakes on the islands of Java and Hawai‘i in 2006 reveal patches of subsidence and incoherence indicative of localized ground failure. Interferograms spanning the 26 May 2006 Java earthquake suggest an area of about 7.5 km2 of subsidence (~2 cm) and incoherence south of the city of Yogyakarta that correlates with significant damage to housing, high modeled peak ground accelerations, and poorly consolidated geologic deposits. The subsidence and incoherence is inferred to be a result of intense shaking and/or damage. At least five subsidence patches on the west side of the Island of Hawai‘i, ranging 0.3–2.2 km2 in area and 3–8 cm in magnitude, occurred as a result of a pair of strong earthquakes on 15 October 2006. Although no felt reports or seismic data are available from the areas in Hawai‘i, the Java example suggests that the subsidence patches indicate areas of amplified earthquake shaking. Surprisingly, all subsidence areas in Hawai‘i were limited to recent, and supposedly stable, lava flows and may reflect geological conditions not detectable at the surface. In addition, two ‘a‘ā lava flows in Hawai‘i were partially incoherent in interferograms spanning the earthquakes, indicating surface disruption as a result of the earthquake shaking. Coearthquake incoherence of rubbly deposits, like ‘a‘ā flows, should be explored as a potential indicator of earthquake intensity and past strong seismic activity.

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

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B. P. Williams

2006-07-01

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

A Tangled Web - Tau and Sporadic Parkinson's Disease

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Selina Wray

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 α -synuclein, the LRRK2 gene, coding for leucine rich repeat kinase 2, and MAPT, coding for the microtubule associated protein tau. Point mutations in α -synuclein, along with gene multiplication events, result in autosomal dominant PD, often with a significant dementia component. In addition to this, α -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.

Agraphia of Kanji (Chinese characters): an early symptom of sporadic Creutzfeldt-Jakob disease in a Japanese patient: a case report.

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Nakamura, Keiko; Sakai, Kenji; Samuraki, Miharu; Nozaki, Ichiro; Notoya, Masako; Yamada, Masahito

2014-08-06

Slowly progressive cognitive decline is the most frequent initial manifestation in MM2-cortical-type sporadic Creutzfeldt-Jakob disease. Agraphia has never been noted in patients with this type of sporadic Creutzfeldt-Jakob disease, however, we report the case of a Japanese patient with sporadic Creutzfeldt-Jakob disease in whom agraphia of Kanji was an initial cardinal symptom. A 59-year-old right-handed Japanese woman complained of agraphia of Kanji (Chinese characters) as an initial symptom. A neurological examination revealed mild word-finding difficulty, constructive disturbance, hyperreflexia in her jaw and lower limbs, and bilateral extensor plantar reflexes. An examination of her cerebrospinal fluid revealed increased levels of 14-3-3 and total tau proteins, and abnormal conformation of the proteinase K-resistant prion protein. Diffusion-weighted magnetic resonance imaging showed diffuse hyperintensity in bilateral cerebral cortices. Single-photon emission computed tomography scans revealed hypoperfusion in the left temporal lobe, bilateral parietal and occipital lobes. An analysis of the prion protein gene demonstrated no mutation with homozygous for methionine at the codon 129. We diagnosed our patient with sporadic Creutzfeldt-Jakob disease. Although a histological examination was not performed, it was assumed that our patient could be the MM2-cortical type according to the clinical findings and the elevated levels of 14-3-3 protein in her cerebrospinal fluid. The left posterior inferior temporal area, which was affected in our patient as a hypoperfusion area, is associated with selecting and recalling Kanji characters. Focal signs as an early symptom and hypoperfusion areas in sporadic Creutzfeldt-Jakob disease are critical to recognize initial brain lesions damaged by the proteinase K-resistant prion protein accumulation.

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

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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

Strong Light Localization and a Peculiar Feature of Light Leakage in the Negative Curvature Hollow Core Fibers

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Andrey D. Pryamikov

2017-11-01

Full Text Available In this paper we would like to continue a discussion started in our previous work and devoted to the mechanism of light localization in hollow core microstructured fibers with a noncircular core-cladding boundary. It has been shown in many works that, for waveguide microstructures with different types of core-cladding boundary shape, the positions of the transmission bands’ edges can be predicted by applying the well-known anti–resonant reflecting optical waveguide (ARROW model. At the same time, the ARROW model cannot explain the strong light localization and guiding at high material loss inside the transmission bands which are observed in negative curvature hollow core fibers, for example. In this paper we want to clarify our previous findings and consider the light localization process from another point of view, namely, by comparing the light leakage process in waveguide microstructures with different shapes of the core-cladding boundary. The results are discussed based on the ARROW model and a new approach associated with the consideration of spatial dispersion occurring under the interaction of the air core mode with the core-cladding boundary.

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

Roč. 70, č. 15 (2008), s. 1904-1910 ISSN 1364-6826 R&D Projects: GA AV ČR IAA300420704 Grant - others: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

[Import and local transmission of Haemophilus ducreyi].

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Knudsen, Troels Bygum; Sand, Carsten; Jensen, Jørgen Skov

2010-07-26

Chancroid is a sexually transmitted disease characterized by painful ulcers with a soft margin, necrotic base and purulent exudate. Previously, only sporadic, imported cases have been reported in Denmark. The bacterium is difficult to culture and novel polymerase chain reaction (PCR)-based methods for direct demonstration of bacterial DNA have facilitated rapid verification of the clinical diagnosis. We report two cases which demonstrate import and subsequent local transmission in Denmark. In both cases, the clinical diagnosis was rapidly verified by a combined PCR testing for multiple causes of venereal ulcers.

Aberrant gene promoter methylation associated with sporadic multiple colorectal cancer.

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Victoria Gonzalo

Full Text Available BACKGROUND: Colorectal cancer (CRC multiplicity has been mainly related to polyposis and non-polyposis hereditary syndromes. In sporadic CRC, aberrant gene promoter methylation has been shown to play a key role in carcinogenesis, although little is known about its involvement in multiplicity. To assess the effect of methylation in tumor multiplicity in sporadic CRC, hypermethylation of key tumor suppressor genes was evaluated in patients with both multiple and solitary tumors, as a proof-of-concept of an underlying epigenetic defect. METHODOLOGY/PRINCIPAL FINDINGS: We examined a total of 47 synchronous/metachronous primary CRC from 41 patients, and 41 gender, age (5-year intervals and tumor location-paired patients with solitary tumors. Exclusion criteria were polyposis syndromes, Lynch syndrome and inflammatory bowel disease. DNA methylation at the promoter region of the MGMT, CDKN2A, SFRP1, TMEFF2, HS3ST2 (3OST2, RASSF1A and GATA4 genes was evaluated by quantitative methylation specific PCR in both tumor and corresponding normal appearing colorectal mucosa samples. Overall, patients with multiple lesions exhibited a higher degree of methylation in tumor samples than those with solitary tumors regarding all evaluated genes. After adjusting for age and gender, binomial logistic regression analysis identified methylation of MGMT2 (OR, 1.48; 95% CI, 1.10 to 1.97; p = 0.008 and RASSF1A (OR, 2.04; 95% CI, 1.01 to 4.13; p = 0.047 as variables independently associated with tumor multiplicity, being the risk related to methylation of any of these two genes 4.57 (95% CI, 1.53 to 13.61; p = 0.006. Moreover, in six patients in whom both tumors were available, we found a correlation in the methylation levels of MGMT2 (r = 0.64, p = 0.17, SFRP1 (r = 0.83, 0.06, HPP1 (r = 0.64, p = 0.17, 3OST2 (r = 0.83, p = 0.06 and GATA4 (r = 0.6, p = 0.24. Methylation in normal appearing colorectal mucosa from patients with multiple and solitary CRC showed no relevant

C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.

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He, Ji; Tang, Lu; Benyamin, Beben; Shah, Sonia; Hemani, Gib; Liu, Rong; Ye, Shan; Liu, Xiaolu; Ma, Yan; Zhang, Huagang; Cremin, Katie; Leo, Paul; Wray, Naomi R; Visscher, Peter M; Xu, Huji; Brown, Matthew A; Bartlett, Perry F; Mangelsdorf, Marie; Fan, Dongsheng

2015-09-01

A hexanucleotide repeat expansion (HRE) in the C9orf72 gene has been identified as the most common mutation in amyotrophic lateral sclerosis (ALS) among Caucasian populations. We sought to comprehensively evaluate genetic and epigenetic variants of C9orf72 and the contribution of the HRE in Chinese ALS cases. We performed fragment-length and repeat-primed polymerase chain reaction to determine GGGGCC copy number and expansion within the C9orf72 gene in 1092 sporadic ALS (sALS) and 1062 controls from China. We performed haplotype analysis of 23 single-nucleotide polymorphisms within and surrounding C9orf72. The C9orf72 HRE was found in 3 sALS patients (0.3%) but not in control subjects (p = 0.25). For 2 of the cases with the HRE, genotypes of 8 single-nucleotide polymorphisms flanking the HRE were inconsistent with the haplotype reported to be strongly associated with ALS in Caucasian populations. For these 2 individuals, we found hypermethylation of the CpG island upstream of the repeat, an observation not detected in other sALS patients (p HRE were highly associated with repeat lengths >8 repeats implying that both haplotypes may confer instability of repeat length. Copyright © 2015 Elsevier Inc. All rights reserved.

Specific deficit of colour-colour short-term memory binding in sporadic and familial Alzheimer's disease.

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Parra, Mario A; Sala, Sergio Della; Abrahams, Sharon; Logie, Robert H; Méndez, Luis Guillermo; Lopera, Francisco

2011-06-01

Short-term memory binding of visual features which are processed across different dimensions (shape-colour) is impaired in sporadic Alzheimer's disease, familial Alzheimer's disease, and in asymptomatic carriers of familial Alzheimer's disease. This study investigated whether Alzheimer's disease also impacts on within-dimension binding processes. The study specifically explored whether visual short-term memory binding of features of the same type (colour-colour) is sensitive to Alzheimer's disease. We used a neuropsychological battery and a short-term memory binding task to assess patients with sporadic Alzheimer's disease (Experiment 1), familial Alzheimer's disease (Experiment 2) due to the mutation E280A of the Presenilin-1 gene and asymptomatic carriers of the mutation. The binding task assessed change detection within arrays of unicoloured objects (Colour Only) or bicoloured objects the colours of which had to be remembered separately (Unbound Colours) or together (Bound Colours). Performance on the Bound Colours condition (1) explained the largest proportion of variance between patients (sporadic and familial Alzheimer's disease), (2) combined more sensitivity and specificity for the disease than other more traditional neuropsychological tasks, (3) identified asymptomatic carriers of the mutation even when traditional neuropsychological measures and other measures of short-term memory did not and, (4) contrary to shape-colour binding, correlated with measures of hippocampal functions. Colour-colour binding and shape-colour binding both appear to be sensitive to AD even though they seem to rely on different brain mechanisms. Copyright © 2011 Elsevier Ltd. All rights reserved.

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes.

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Michel Guipponi

Full Text Available Schizophrenia (SCZ is a severe, debilitating mental illness which has a significant genetic component. The identification of genetic factors related to SCZ has been challenging and these factors remain largely unknown. To evaluate the contribution of de novo variants (DNVs to SCZ, we sequenced the exomes of 53 individuals with sporadic SCZ and of their non-affected parents. We identified 49 DNVs, 18 of which were predicted to alter gene function, including 13 damaging missense mutations, 2 conserved splice site mutations, 2 nonsense mutations, and 1 frameshift deletion. The average number of exonic DNV per proband was 0.88, which corresponds to an exonic point mutation rate of 1.7×10(-8 per nucleotide per generation. The non-synonymous-to-synonymous mutation ratio of 2.06 did not differ from neutral expectations. Overall, this study provides a list of 18 putative candidate genes for sporadic SCZ, and when combined with the results of similar reports, identifies a second proband carrying a non-synonymous DNV in the RGS12 gene.

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

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Zhi-Peng Xu

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

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

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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.

Human cold stress of strong local-wind "Hijikawa-arashi" in Japan, based on the UTCI index and thermo-physiological responses

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Ohashi, Yukitaka; Katsuta, Takumi; Tani, Haruka; Okabayashi, Taiki; Miyahara, Satoshi; Miyashita, Ryoji

2018-03-01

We investigated the cold stress caused by a strong local wind called "Hijikawa-arashi," through in situ vital measurements and the Universal Thermal Climate Index (UTCI). This wind is a very interesting winter phenomenon, localized in an area within 1 km of the seashore in Ozu City, Ehime Prefecture in Japan. When a strong Hijikawa-arashi (HA) occurred at 14-15 m s-1, the UTCI decreased to - 30 °C along the bridge where commuting residents are the most exposed to strong and cold winds. On the bridge, most participants in our experiment felt "very cold" or "extremely cold." The UTCI of HA can be predicted from a multiple regression equation using wind speed and air temperature. The cold HA wind is also harmful to human thermo-physiological responses. It leads to higher blood pressure and increased heart rate, both of which act as cardiovascular stress triggers. Increases of 6-10 mmHg and 3-6 bpm for every 10 °C reduction in UTCI were seen on all observational days, including HA and non-HA days. In fact, the participants' body skin temperatures decreased by approximately 1.2 to 1.7 °C for every 10 °C reduction in UTCI. Thus, the UTCI variation due to the HA outbreak corresponded well with the cold sensation and thermo-physiological responses in humans. This result suggests that daily UTCI monitoring enables the prediction of thermo-physiological responses to the HA cold stress.

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

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Kabashi, Edor; Valdmanis, Paul N; Dion, Patrick; Spiegelman, Dan; McConkey, Brendan J; Vande Velde, Christine; Bouchard, Jean-Pierre; Lacomblez, Lucette; Pochigaeva, Ksenia; Salachas, Francois; Pradat, Pierre-Francois; Camu, William; Meininger, Vincent; Dupre, Nicolas; Rouleau, Guy A

2008-05-01

Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals--six from individuals with sporadic ALS (SALS) and three from those with familial ALS (FALS)--and a concurring increase of a smaller TDP-43 product. These findings further corroborate that TDP-43 is involved in ALS pathogenesis.

Searching for effects caused by thunderstorms in midlatitude sporadic E layers

Czech Academy of Sciences Publication Activity Database

Barta, V.; Haldoupis, C.; Sátori, G.; Burešová, Dalia; Chum, Jaroslav; Pozoga, M.; Berényi, K. A.; Bór, J.; Popek, Martin; Kis, Á.; Bencze, P.

2017-01-01

Roč. 161, August (2017), s. 150-159 ISSN 1364-6826 R&D Projects: GA ČR(CZ) GC15-07281J; GA ČR(CZ) GAP209/12/2440; GA ČR(CZ) GA14-31899S Institutional support: RVO:68378289 Keywords : atmospheric gravity waves * ionosphere coupling * lightning * sporadic E layer * sprites * thunderstorm Subject RIV: DG - Athmosphere Sciences, Meteorology OBOR OECD: Meteorology and atmospheric sciences Impact factor: 1.326, year: 2016 https://arxiv.org/abs/1708.00270

Imaging and clinical characteristics of sporadic Creutzfeldt-Jakob disease

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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.

Theoretical studies of strongly correlated fermions

Energy Technology Data Exchange (ETDEWEB)

Logan, D [Institut Max von Laue - Paul Langevin (ILL), 38 - Grenoble (France)

1997-04-01

Strongly correlated fermions are investigated. An understanding of strongly correlated fermions underpins a diverse range of phenomena such as metal-insulator transitions, high-temperature superconductivity, magnetic impurity problems and the properties of heavy-fermion systems, in all of which local moments play an important role. (author).

Update on Sporadic Colorectal Cancer Genetics.

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Hardiman, Karin M

2018-05-01

Our understanding of the genetics of colorectal cancer has changed dramatically over recent years. Colorectal cancer can be classified in multiple different ways. Along with the advent of whole-exome sequencing, we have gained an understanding of the scale of the genetic changes found in sporadic colorectal cancer. We now know that there are multiple pathways that are commonly involved in the evolution of colorectal cancer including Wnt/β-catenin, RAS, EGFR, and PIK3 kinase. Another recent leap in our understanding of colorectal cancer genetics is the recognition that many, if not all tumors, are actually genetically heterogeneous within individual tumors and also between tumors. Recent research has revealed the prognostic and possibly therapeutic implications of various specific mutations, including specific mutations in BRAF and KRAS . There is increasing interest in the use of mutation testing for screening and surveillance through stool and circulating DNA testing. Recent advances in translational research in colorectal cancer genetics are dramatically changing our understanding of colorectal cancer and will likely change therapy and surveillance in the near future.

Minimally Invasive Treatment of Sporadic Burkitt’s Lymphoma Causing Ileocaecal Invagination

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Paolo Panaccio

2018-01-01

Full Text Available Introduction. Primary NHL (non-Hodgkin lymphoma of the colon represents only 0.2% to 1.2% of all colonic malignancies. Burkitt’s lymphoma (BL is usually a disease reported in children and young people, most of them associated with EBV or HIV infection. We describe a rare case of intestinal obstruction due to sporadic Burkitt’s lymphoma causing ileocaecal invagination explaining our experience Methods. A 31-year-old man presented with diffuse colic pain and weight loss. Clinical examination revealed an abdominal distension with pain in the right iliac fossa. Colonoscopy documented a caecal large lesion with ulcerated mucosa. Computed tomography (CT have shown a 60 × 50 mm right colic parietal lesion with signs of ileocolic intussusception. Results. Laparoscopic right hemicolectomy was performed. Postoperative period was uneventful. CD20+ high-grade B-cell Burkitt’s lymphoma was confirmed by immunohistochemistry (CD20+, CD79+, and CD10+ and FISH test (t (8;14 (q24; q32. The patient was subsequently treated with adjuvant combination chemotherapy (Hyper-CVAD and is alive and disease-free at 8 months follow-up. Discussion. Adult sporadic Burkitt’s lymphoma (BL causing intestinal obstruction due to ileocaecal intussusception is an extremely rare occurrence and a diagnostic dilemma. Despite the surgical approach is selected based on patient’s conditions and surgeon’s expertise, minimally invasive method could be preferred.

The formation of sporadic E layers by a vortical perturbation excited in a horizontal wind shear flow

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G. G. Didebulidze

2008-06-01

Full Text Available The formation of the mid-latitude sporadic E layers (E_s layers by an atmospheric vortical perturbation excited in a horizontal shear flow (horizontal wind with a horizontal linear shear is investigated. A three-dimensional atmospheric vortical perturbation (atmospheric shear waves, whose velocity vector is in the horizontal plane and has a vertical wavenumber k_z≠0, can provide a vertical shear of the horizontal wind. The shear waves influence the vertical transport of heavy metallic ions and their convergence into thin and dense horizontal layers. The proposed mechanism takes into account the dynamical influence of the shear wave velocity in the horizontal wind on the vertical drift velocity of the ions. It also can explain the multi-layer structure of E_s layers. The pattern of the multi-layer structure depends on the value of the shear-wave vertical wavelength, the ion-neutral collision frequency and the direction of the background horizontal wind. The modelling of formation of sporadic E layers with a single and a double peak is presented. Also, the importance of shear wave coupling with short-period atmospheric gravity waves (AGWs on the variations of sporadic E layer ion density is examined and discussed.

Risk of transmission of sporadic Creutzfeldt-Jakob disease by surgical procedures: systematic reviews and quality of evidence.

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López, Fernando J García; Ruiz-Tovar, María; Almazán-Isla, Javier; Alcalde-Cabero, Enrique; Calero, Miguel; de Pedro-Cuesta, Jesús

2017-10-01

Sporadic Creutzfeldt-Jakob disease (sCJD) is potentially transmissible to humans. This study aimed to summarise and rate the quality of the evidence of the association between surgery and sCJD. Firstly, we conducted systematic reviews and meta-analyses of case-control studies with major surgical procedures as exposures under study. To assess quality of evidence, we used the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) approach. Secondly, we conducted a systematic review of sCJD case reports after sharing neurosurgical instruments. Thirteen case-control studies met the inclusion criteria for the systematic review of case-control studies. sCJD was positively associated with heart surgery, heart and vascular surgery and eye surgery, negatively associated with tonsillectomy and appendectomy, and not associated with neurosurgery or unspecified major surgery. The overall quality of evidence was rated as very low. A single case-control study with a low risk of bias found a strong association between surgery conducted more than 20 years before disease onset and sCJD. Seven cases were described as potentially transmitted by reused neurosurgical instruments. The association between surgery and sCJD remains uncertain. Measures currently recommended for preventing sCJD transmission should be strongly maintained. Future studies should focus on the potential association between sCJD and surgery undergone a long time previously.

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

Science.gov (United States)

Wilkin, D J; Szabo, J K; Cameron, R; Henderson, S; Bellus, G A; Mack, M L; Kaitila, I; Loughlin, J; Munnich, A; Sykes, B; Bonaventure, J; Francomano, C A

1998-01-01

More than 97% of achondroplasia cases are caused by one of two mutations (G1138A and G1138C) in the fibroblast growth factor receptor 3 (FGFR3) gene, which results in a specific amino acid substitution, G380R. Sporadic cases of achondroplasia have been associated with advanced paternal age, suggesting that these mutations occur preferentially during spermatogenesis. We have determined the parental origin of the achondroplasia mutation in 40 sporadic cases. Three distinct 1-bp polymorphisms were identified in the FGFR3 gene, within close proximity to the achondroplasia mutation site. Ninety-nine families, each with a sporadic case of achondroplasia in a child, were analyzed in this study. In this population, the achondroplasia mutation occurred on the paternal chromosome in all 40 cases in which parental origin was unambiguous. This observation is consistent with the clinical observation of advanced paternal age resulting in new cases of achondroplasia and suggests that factors influencing DNA replication or repair during spermatogenesis, but not during oogenesis, may predispose to the occurrence of the G1138 FGFR3 mutations. PMID:9718331

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)

Granja F.

2003-01-01

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.

Strong guided mode resonant local field enhanced visible harmonic generation in an azo-polymer resonant waveguide grating.

Science.gov (United States)

Lin, Jian Hung; Tseng, Chun-Yen; Lee, Ching-Ting; Young, Jeff F; Kan, Hung-Chih; Hsu, Chia Chen

2014-02-10

Guided mode resonance (GMR) enhanced second- and third-harmonic generation (SHG and THG) is demonstrated in an azo-polymer resonant waveguide grating (RWG), comprised of a poled azo-polymer layer on top of a textured SU8 substrate with a thin intervening layer of TiO2. Strong SHG and THG outputs are observed by matching either in-coming fundamental- or out-going harmonic-wavelength to the GMR wavelengths of the azo-polymer RWG. Without the azo-polymer coating, pure TiO2 RWGs, do not generate any detectable SHG using a fundamental beam peak intensity of 2 MW/cm(2). Without the textured TiO2 layer, a planar poled azo-polymer layer results in 3650 times less SHG than the full nonlinear RWG structure under identical excitation conditions. Rigorous coupled-wave analysis calculations confirm that this enhancement of the nonlinear conversion is due to strong local electric fields that are generated at the interfaces of the TiO2 and azo-polymer layers when the RWG is excited at resonant wavelengths associated with both SHG and THG conversion processes.

Human cold stress of strong local-wind "Hijikawa-arashi" in Japan, based on the UTCI index and thermo-physiological responses.

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Ohashi, Yukitaka; Katsuta, Takumi; Tani, Haruka; Okabayashi, Taiki; Miyahara, Satoshi; Miyashita, Ryoji

2018-03-30

We investigated the cold stress caused by a strong local wind called "Hijikawa-arashi," through in situ vital measurements and the Universal Thermal Climate Index (UTCI). This wind is a very interesting winter phenomenon, localized in an area within 1 km of the seashore in Ozu City, Ehime Prefecture in Japan. When a strong Hijikawa-arashi (HA) occurred at 14-15 m s -1 , the UTCI decreased to - 30 °C along the bridge where commuting residents are the most exposed to strong and cold winds. On the bridge, most participants in our experiment felt "very cold" or "extremely cold." The UTCI of HA can be predicted from a multiple regression equation using wind speed and air temperature. The cold HA wind is also harmful to human thermo-physiological responses. It leads to higher blood pressure and increased heart rate, both of which act as cardiovascular stress triggers. Increases of 6-10 mmHg and 3-6 bpm for every 10 °C reduction in UTCI were seen on all observational days, including HA and non-HA days. In fact, the participants' body skin temperatures decreased by approximately 1.2 to 1.7 °C for every 10 °C reduction in UTCI. Thus, the UTCI variation due to the HA outbreak corresponded well with the cold sensation and thermo-physiological responses in humans. This result suggests that daily UTCI monitoring enables the prediction of thermo-physiological responses to the HA cold stress.

An Early Look at Families and Local Programs in the Mother and Infant Home Visiting Program Evaluation-Strong Start: Third Annual Report. OPRE Report 2016-37

Science.gov (United States)

Lee, Helen; Crowne, Sarah; Faucetta, Kristen; Hughes, Rebecca

2016-01-01

The Mother and Infant Home Visiting Program Evaluation-Strong Start (MIHOPE-Strong Start) is the largest random assignment study to date to examine the effectiveness of home visiting services on improving birth outcomes and infant and maternal health care use for expectant mothers. The study includes local home visiting programs that use one of…

Detection of infectivity in blood of persons with variant and sporadic Creutzfeldt-Jakob disease.

Science.gov (United States)

Douet, Jean Yves; Zafar, Saima; Perret-Liaudet, Armand; Lacroux, Caroline; Lugan, Séverine; Aron, Naima; Cassard, Herve; Ponto, Claudia; Corbière, Fabien; Torres, Juan Maria; Zerr, Inga; Andreoletti, Olivier

2014-01-01

We report the presence of infectivity in erythrocytes, leukocytes, and plasma of 1 person with variant Creutzfeldt-Jakob disease and in the plasma of 2 in 4 persons whose tests were positive for sporadic Creutzfeldt-Jakob disease. The measured infectivity levels were comparable to those reported in various animals with transmissible spongiform encephalopathies.

The monster sporadic group and a theory underlying superstring models

International Nuclear Information System (INIS)

Chapline, G.

1996-09-01

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

High signal of the striatum in sporadic Creutzfeldt-Jakob disease: sequential change on T2-weighted MRI

International Nuclear Information System (INIS)

Uemura, A.; O'uchi, T.; Sakamoto, T.; Yashiro, N.

2002-01-01

The object of this study is to describe the sequential change of high signal of the striatum on T2-weighted MRI in sporadic Creutzfeldt-Jakob disease (CJD). Three cases of autopsy-proven sporadic CJD and a total of 18 serial MR images are included in this study. The degree of high signal of the striatum on T2-weighted MRI was evaluated by two neuroradiologists and divided into four grades by mutual agreement. Initial MRI of all three cases showed a slightly high signal of the bilateral striatum, and the conspicuity of the high signal became more prominent as the disease progressed. In each case the pathological change of striatum and globus pallidus was compared with the high signal on the last MR image. (orig.)

High signal of the striatum in sporadic Creutzfeldt-Jakob disease: sequential change on T2-weighted MRI

Energy Technology Data Exchange (ETDEWEB)

Uemura, A.; O' uchi, T.; Sakamoto, T.; Yashiro, N. [Department of Radiology, Kameda Medical Center, Kamogawa, Chiba (Japan)

2002-04-01

The object of this study is to describe the sequential change of high signal of the striatum on T2-weighted MRI in sporadic Creutzfeldt-Jakob disease (CJD). Three cases of autopsy-proven sporadic CJD and a total of 18 serial MR images are included in this study. The degree of high signal of the striatum on T2-weighted MRI was evaluated by two neuroradiologists and divided into four grades by mutual agreement. Initial MRI of all three cases showed a slightly high signal of the bilateral striatum, and the conspicuity of the high signal became more prominent as the disease progressed. In each case the pathological change of striatum and globus pallidus was compared with the high signal on the last MR image. (orig.)

The Use of Social Media by UK Local Resilience Forums

OpenAIRE

Meaton, Julia; Stringer, Lisa

2014-01-01

The potential uses of social media in the field of emergency preparedness, resilience and response (EPRR) are varied and interesting. The UK government have produced guidance documents for its use in the UK EPRR field but evidence of use is poorly documented and appears sporadic. This paper presents the results of a survey of Local Resilience Forums (LRF) in the UK on their use and engagement with social media. The findings suggest that the level of application of social media strategies as e...

Intermittent strong transport of the quasi-adiabatic plasma state.

Science.gov (United States)

Kim, Chang-Bae; An, Chan-Yong; Min, Byunghoon

2018-06-05

The dynamics of the fluctuating electrostatic potential and the plasma density couched in the resistive-drift model at nearly adiabatic state are simulated. The linear modes are unstable if the phase difference between the potential and the density are positive. Exponential growth of the random small perturbations slows down due to the nonlinear E × B flows that work in two ways. They regulate the strength of the fluctuations by transferring the energy from the energy-producing scale to neighboring scales and reduce the cross phase at the same time. During quasi-steady relaxation sporadic appearance of very strong turbulent particle flux is observed that is characterized by the flat energy spectrum and the broad secondary peak in the mesoscale of the order of the gyro-radius. Such boost of the transport is found to be caused by presence of relatively large cross phase as the E × B flows are not effective in cancelling out the cross phase.

Stability of strong species interactions resist the synergistic effects of local and global pollution in kelp forests.

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Laura J Falkenberg

Full Text Available Foundation species, such as kelp, exert disproportionately strong community effects and persist, in part, by dominating taxa that inhibit their regeneration. Human activities which benefit their competitors, however, may reduce stability of communities, increasing the probability of phase-shifts. We tested whether a foundation species (kelp would continue to inhibit a key competitor (turf-forming algae under moderately increased local (nutrient and near-future forecasted global pollution (CO(2. Our results reveal that in the absence of kelp, local and global pollutants combined to cause the greatest cover and mass of turfs, a synergistic response whereby turfs increased more than would be predicted by adding the independent effects of treatments (kelp absence, elevated nutrients, forecasted CO(2. The positive effects of nutrient and CO(2 enrichment on turfs were, however, inhibited by the presence of kelp, indicating the competitive effect of kelp was stronger than synergistic effects of moderate enrichment of local and global pollutants. Quantification of physicochemical parameters within experimental mesocosms suggests turf inhibition was likely due to an effect of kelp on physical (i.e. shading rather than chemical conditions. Such results indicate that while forecasted climates may increase the probability of phase-shifts, maintenance of intact populations of foundation species could enable the continued strength of interactions and persistence of communities.

A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk

NARCIS (Netherlands)

P. Sanchez-Juan (Pascual); M.T. Bishop (Matthew); G.G. Kovacs (Gabor); M. Calero (Miguel); Y.S. Aulchenko (Yurii); A. Ladogana (Anna); A. Boyd (Alison); V. Lewis (Victoria); C. Ponto (Claudia); Calero, O. (Olga); A. Poleggi (Anna); A. Carracedo (Angel); S.J. van der Lee (Sven); T. Ströbel (Thomas); F. Rivadeneira Ramirez (Fernando); A. Hofman (Albert); S. Haik; O. Combarros (Onofre); J. Berciano (José); A.G. Uitterlinden (André); S.J. Collins (Steven); H. Budka (Herbert); J-P. Brandel (Jean-Philippe); J.-L. Laplanche (Jean-Louis); M. Pocchiari (Maurizio); I. Zerr (Inga); R. Knight (Richard); R.G. Will (Robert); C.M. van Duijn (Cornelia)

2015-01-01

textabstractWe performed a genome-wide association (GWA) study in 434 sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939 controls from the United Kingdom, Germany and The Netherlands. The findings were replicated in an independent sample of 1109 sCJD and 2264 controls provided by a

The lambda sigma calculus and strong normalization

DEFF Research Database (Denmark)

Schack-Nielsen, Anders; Schürmann, Carsten

Explicit substitution calculi can be classified into several dis- tinct categories depending on whether they are confluent, meta-confluent, strong normalization preserving, strongly normalizing, simulating, fully compositional, and/or local. In this paper we present a variant of the λσ-calculus, ...

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

Ultra-high-resolution C-arm flat-detector CT angiography evaluation reveals 3-fold higher association rate for sporadic intracranial cavernous malformations and developmental venous anomalies: a retrospective study in consecutive 58 patients with 60 cavernous malformations

Energy Technology Data Exchange (ETDEWEB)

Kocak, Burak [Aksaray State Hospital, Department of Radiology, Aksaray (Turkey); Kizilkilic, Osman; Kocer, Naci; Islak, Civan [Istanbul University, Department of Radiology, Cerrahpasa Medical Faculty, Istanbul (Turkey); Oz, Buge; Bakkaloglu, Dogu Vuralli [Istanbul University, Department of Pathology, Cerrahpasa Medical Faculty, Istanbul (Turkey); Isler, Cihan [Istanbul University, Department of Neurosurgery, Cerrahpasa Medical Faculty, Istanbul (Turkey)

2017-06-15

The imaging and surgical literature has confusing association rates for the association between sporadic intracranial cavernous malformations (CMs) and developmental venous anomalies (DVAs). In this study, our purpose was to determine the association rate using ultra-high-resolution C-arm flat-detector CT angiography (FDCTA) and compare it with literature. Fifty-eight patients with 60 sporadic intracranial CMs that underwent an FDCTA study were included in our retrospective study. Re-evaluation of radiological data was performed based on the criteria defined by authors. Isotropic volumetric reconstructions with ultra-high resolution (voxel size of 102 μm{sup 3} for initial; 67 μm{sup 3} and 32 μm{sup 3} for further evaluation) were used for assessment. Sixteen patients underwent surgery for excision of their CMs. Fifty-one of all patients (87.9 %) were associated with a DVA. Undefined local venous structures (UD-LVSs) were observed in the remaining 7 patients (12.1 %). The strength of interobserver agreement was excellent [kappa(k) coefficient = 0.923]. Ultra-high-resolution FDCTA evaluation of CMs and DVAs reveals 3-fold higher association rate compared to the literature. FDCTA for patients with sporadic CMs could help identify the associated DVAs that remained undetected or unclear with other imaging modalities, which can be useful in decision-making processes, planning surgery, and during operation. (orig.)

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

DEFF Research Database (Denmark)

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

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 salmone...

Towards an age-dependent transmission model of acquired and sporadic Creutzfeldt-Jakob disease.

Science.gov (United States)

de Pedro-Cuesta, Jesús; Mahillo-Fernandez, Ignacio; Calero, Miguel; Rábano, Alberto; Cruz, Mabel; Siden, Åke; Martínez-Martín, Pablo; Laursen, Henning; Ruiz-Tovar, María; Mølbak, Kåre

2014-01-01

Sporadic Creutzfeldt-Jakob disease (sCJD) might be transmitted by surgery. The purpose of this study was to investigate potential susceptibility to sCJD from surgery at juvenile age and in early adulthood. From Danish and Swedish national registries we identified 167 definite and probable sCJD cases with onset from 1987 through 2003, and 835 age-, sex- and residence-matched controls along with their surgical histories. Main, anatomically or etiologically classified surgical procedures followed by a ≥20-year lag were analyzed using logistic regression, and stratified by age at first-registered surgical discharge. The risk of having a diagnosis of CJD depended strongly on age at first surgery with odds ratio (OR) of 12.80 (95% CI 2.56-64.0) in patients <30 years, 3.04 (95% 1.26-7.33) in 30-39 years, and 1.75 (95% CI 0.89-3.45) in ≥40 years, for anatomically classified surgical procedures. Similar figures were obtained for etiologically classified surgical procedures. Risk of surgical-acquired sCJD depends on age at exposure; this pattern is similar to age-specific profiles reported for CJD accidentally transmitted by human pituitary-derived growth hormone and susceptibility curves for variant CJD estimated after adjustment for dietary exposure to bovine spongiform encephalopathy. There might be an age-at-exposure-related susceptibility to acquire all CJD forms, including sCJD from routine surgery.

Epidemiological trends and clinicopathological features of cutaneous melanoma in sporadic and xeroderma pigmentosum Tunisian patients.

Science.gov (United States)

Naouali, Chokri; Jones, Meriem; Nabouli, Imen; Jerbi, Manel; Tounsi, Haifa; Ben Rekaya, Mariem; Ben Ahmed, Melika; Bouhaouala, Balkiss; Messaoud, Olfa; Khaled, Aida; Zghal, Mohamed; Abdelhak, Sonia; Boubaker, Samir; Yacoub-Youssef, Houda

2017-01-01

Epidemiological features and trends of cutaneous melanoma (CM) in North-African populations remain unclear. Those populations are of particular interest as they belong to a mosaic of various other origins (sub-Saharan, European Ancestry, and North-African Berbers). The aim of this study is to draw epidemiological profile and clinicopathological features of CM in the Tunisian population. Incidence analyses were based on data from regional cancer registries. Clinical data were collected from dermatological departments and xeroderma pigmentosum (XP) referral centers and provided CM clinicopathological characteristics and progression. Statistical analyses were achieved using R packages and SPSS 20.0. The incidence of CM in Tunisia is relatively low (0.5-0.7 per 100,000 inhabitants per year). Gender differences were observed regarding anatomical distribution (P = 0.004). Acral lentiginous melanoma (ALM) was the most frequent histological subtype (32.3%); however, nodular melanoma (NM) was the most aggressive and responsible for 54.8% of deaths. CM in XP patients develops at a median age that is 42 years earlier than sporadic cases, with preferential localization on the head and neck (P Xeroderma pigmentosum stands as the major predisposing host factor. © 2016 The International Society of Dermatology.

Emerging therapeutic options for sporadic inclusion body myositis

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Alfano LN

2015-09-01

Full Text Available Lindsay N Alfano, Linda P Lowes Nationwide Children’s Hospital, Center for Gene Therapy, Columbus, OH, USA Abstract: Sporadic inclusion body myositis is the most common inflammatory muscle disorder preferentially affecting males over the age of 40 years. Progressive muscle weakness of the finger flexors and quadriceps muscles results in loss of independence with activities of daily living and eventual wheelchair dependence. Initial signs of disease are often overlooked and can lead to mis- or delayed diagnosis. The underlying cause of disease is unknown, and disease progression appears refractory to available treatment options. This review discusses the clinical presentation of inclusion body myositis and the current efforts in diagnosis, and focuses on the current state of research for both nonpharmacological and pharmacological treatment options for this patient group. Keywords: myositis, inclusion body myositis, inflammatory myopathy, treatment, function, outcomes

Direct evidence of strong local ferroelectric ordering in a thermoelectric semiconductor

Energy Technology Data Exchange (ETDEWEB)

Aggarwal, Leena; Sekhon, Jagmeet S.; Arora, Ashima; Sheet, Goutam, E-mail: goutam@iisermohali.ac.in [Department of Physical Sciences, Indian Institute of Science Education and Research Mohali (IISER M), Sector 81, S. A. S. Nagar, Manauli PO-140306 (India); Guin, Satya N.; Negi, Devendra S.; Datta, Ranjan; Biswas, Kanishka, E-mail: kanishka@jncasr.ac.in [New Chemistry Unit and International Centre for Materials Science, Jawaharlal Nehru Centre for Advanced Scientific Research (JNCASR), Jakkur, Bangalore 560064 (India)

2014-09-15

It is thought that the proposed new family of multi-functional materials, namely, the ferroelectric thermoelectrics may exhibit enhanced functionalities due to the coupling of the thermoelectric parameters with ferroelectric polarization in solids. Therefore, the ferroelectric thermoelectrics are expected to be of immense technological and fundamental significance. As a first step towards this direction, it is most important to identify the existing high performance thermoelectric materials exhibiting ferroelectricity. Herein, through the direct measurement of local polarization switching, we show that the recently discovered thermoelectric semiconductor AgSbSe{sub 2} has local ferroelectric ordering. Using piezo-response force microscopy, we demonstrate the existence of nanometer scale ferroelectric domains that can be switched by external electric field. These observations are intriguing as AgSbSe{sub 2} crystalizes in cubic rock-salt structure with centro-symmetric space group (Fm–3m), and therefore, no ferroelectricity is expected. However, from high resolution transmission electron microscopy measurement, we found the evidence of local superstructure formation which, we believe, leads to local distortion of the centro-symmetric arrangement in AgSbSe{sub 2} and gives rise to the observed ferroelectricity. Stereochemically active 5S{sup 2} lone-pair of Sb may also give rise to local structural distortion thereby creating ferroelectricity in AgSbSe{sub 2}.

Association of CD40 gene polymorphisms with sporadic breast cancer in Chinese Han women of Northeast China.

Directory of Open Access Journals (Sweden)

Chen Shuang

Full Text Available BACKGROUND: Breast cancer is a polygenetic disorder with a complex inheritance pattern. Single nucleotide polymorphisms (SNPs, the most common genetic variations, influence not only phenotypic traits, but also interindividual predisposition to disease, treatment outcomes with drugs and disease prognosis. The co-stimulatory molecule CD40 plays a prominent role in immune regulation and homeostasis. Accumulating evidence suggests that CD40 contributes to the pathogenesis of cancer. Here, we set out to test the association between polymorphisms in the CD40 gene and breast carcinogenesis and tumor pathology. METHODOLOGY AND PRINCIPAL FINDINGS: Four SNPs (rs1800686, rs1883832, rs4810485 and rs3765459 were genotyped by the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP method in a case-control study including 591 breast cancer patients and 600 age-matched healthy controls. Differences in the genotypic distribution between breast cancer patients and healthy controls were analyzed by the Chi-square test for trends. Our preliminary data showed a statistically significant association between the four CD40 gene SNPs and sporadic breast cancer risk (additive P = 0.0223, 0.0012, 0.0013 and 0.0279, respectively. A strong association was also found using the dominant, recessive and homozygote comparison genetic models. In the clinical features analysis, significant associations were observed between CD40 SNPs and lymph node metastasis, human epidermal growth factor receptor 2 (C-erbB2, estrogen receptor (ER, progesterone receptor (PR and tumor protein 53 (P53 statuses. In addition, our haplotype analysis indicated that the haplotype C(rs1883832G(rs4810485, which was located within the only linkage disequilibrium (LD block identified, was a protective haplotype for breast cancer, whereas T(rs1883832T(rs4810485 increased the risk in the studied population, even after correcting the P value for multiple testing (P = 0.0337 and

RNF43 is mutated less frequently in Lynch Syndrome compared with sporadic microsatellite unstable colorectal cancers.

Science.gov (United States)

Fennell, Lochlan J; Clendenning, Mark; McKeone, Diane M; Jamieson, Saara H; Balachandran, Samanthy; Borowsky, Jennifer; Liu, John; Kawamata, Futoshi; Bond, Catherine E; Rosty, Christophe; Burge, Matthew E; Buchanan, Daniel D; Leggett, Barbara A; Whitehall, Vicki L J

2018-01-01

The WNT signaling pathway is commonly altered during colorectal cancer development. The E3 ubiquitin ligase, RNF43, negatively regulates the WNT signal through increased ubiquitination and subsequent degradation of the Frizzled receptor. RNF43 has recently been reported to harbor frequent truncating frameshift mutations in sporadic microsatellite unstable (MSI) colorectal cancers. This study assesses the relative frequency of RNF43 mutations in hereditary colorectal cancers arising in the setting of Lynch syndrome. The entire coding region of RNF43 was Sanger sequenced in 24 colorectal cancers from 23 patients who either (i) carried a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH6, MSH2, PMS2), or (ii) showed immunohistochemical loss of expression of one or more of the DNA mismatch repair proteins, was BRAF wild type at V600E, were under 60 years of age at diagnosis, and demonstrated no promoter region methylation for MLH1 in tumor DNA. A validation cohort of 44 colorectal cancers from mismatch repair germline mutation carriers from the Australasian Colorectal Cancer Family Registry (ACCFR) were sequenced for the most common truncating mutation hotspots (X117 and X659). RNF43 mutations were found in 9 of 24 (37.5%) Lynch syndrome colorectal cancers. The majority of mutations were frameshift deletions in the G659 G7 repeat tract (29%); 2 cancers (2/24, 8%) from the one patient harbored frameshift mutations at codon R117 (C6 repeat tract) within exon 3. In the ACCFR validation cohort, RNF43 hotspot mutations were identified in 19/44 (43.2%) of samples, which was not significantly different to the initial series. The proportion of mutant RNF43 in Lynch syndrome related colorectal cancers is significantly lower than the previously reported mutation rate found in sporadic MSI colorectal cancers. These findings identify further genetic differences between sporadic and hereditary colorectal cancers. This may be because Lynch Syndrome cancers

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.

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

DEFF Research Database (Denmark)

de Pedro-Cuesta, Jesús; Mahillo-Fernández, Ignacio; Rábano, Alberto

2011-01-01

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

Left frontal hub connectivity delays cognitive impairment in autosomal-dominant and sporadic Alzheimer’s disease

Science.gov (United States)

Franzmeier, Nicolai; Düzel, Emrah; Jessen, Frank; Buerger, Katharina; Levin, Johannes; Duering, Marco; Dichgans, Martin; Haass, Christian; Suárez-Calvet, Marc; Fagan, Anne M; Paumier, Katrina; Benzinger, Tammie; Masters, Colin L; Morris, John C; Perneczky, Robert; Janowitz, Daniel; Catak, Cihan; Wolfsgruber, Steffen; Wagner, Michael; Teipel, Stefan; Kilimann, Ingo; Ramirez, Alfredo; Rossor, Martin; Jucker, Mathias; Chhatwal, Jasmeer; Spottke, Annika; Boecker, Henning; Brosseron, Frederic; Falkai, Peter; Fliessbach, Klaus; Heneka, Michael T; Laske, Christoph; Nestor, Peter; Peters, Oliver; Fuentes, Manuel; Menne, Felix; Priller, Josef; Spruth, Eike J; Franke, Christiana; Schneider, Anja; Kofler, Barbara; Westerteicher, Christine; Speck, Oliver; Wiltfang, Jens; Bartels, Claudia; Araque Caballero, Miguel Ángel; Metzger, Coraline; Bittner, Daniel; Weiner, Michael; Lee, Jae-Hong; Salloway, Stephen; Danek, Adrian; Goate, Alison; Schofield, Peter R; Bateman, Randall J; Ewers, Michael

2018-01-01

Abstract Patients with Alzheimer’s disease vary in their ability to sustain cognitive abilities in the presence of brain pathology. A major open question is which brain mechanisms may support higher reserve capacity, i.e. relatively high cognitive performance at a given level of Alzheimer’s pathology. Higher functional MRI-assessed functional connectivity of a hub in the left frontal cortex is a core candidate brain mechanism underlying reserve as it is associated with education (i.e. a protective factor often associated with higher reserve) and attenuated cognitive impairment in prodromal Alzheimer’s disease. However, no study has yet assessed whether such hub connectivity of the left frontal cortex supports reserve throughout the evolution of pathological brain changes in Alzheimer’s disease, including the presymptomatic stage when cognitive decline is subtle. To address this research gap, we obtained cross-sectional resting state functional MRI in 74 participants with autosomal dominant Alzheimer’s disease, 55 controls from the Dominantly Inherited Alzheimer’s Network and 75 amyloid-positive elderly participants, as well as 41 amyloid-negative cognitively normal elderly subjects from the German Center of Neurodegenerative Diseases multicentre study on biomarkers in sporadic Alzheimer’s disease. For each participant, global left frontal cortex connectivity was computed as the average resting state functional connectivity between the left frontal cortex (seed) and each voxel in the grey matter. As a marker of disease stage, we applied estimated years from symptom onset in autosomal dominantly inherited Alzheimer’s disease and cerebrospinal fluid tau levels in sporadic Alzheimer’s disease cases. In both autosomal dominant and sporadic Alzheimer’s disease patients, higher levels of left frontal cortex connectivity were correlated with greater education. For autosomal dominant Alzheimer’s disease, a significant left frontal cortex connectivity �

A Risk Prediction Model for Sporadic CRC Based on Routine Lab Results.

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Boursi, Ben; Mamtani, Ronac; Hwang, Wei-Ting; Haynes, Kevin; Yang, Yu-Xiao

2016-07-01

Current risk scores for colorectal cancer (CRC) are based on demographic and behavioral factors and have limited predictive values. To develop a novel risk prediction model for sporadic CRC using clinical and laboratory data in electronic medical records. We conducted a nested case-control study in a UK primary care database. Cases included those with a diagnostic code of CRC, aged 50-85. Each case was matched with four controls using incidence density sampling. CRC predictors were examined using univariate conditional logistic regression. Variables with p value CRC prediction models which included age, sex, height, obesity, ever smoking, alcohol dependence, and previous screening colonoscopy had an AUC of 0.58 (0.57-0.59) with poor goodness of fit. A laboratory-based model including hematocrit, MCV, lymphocytes, and neutrophil-lymphocyte ratio (NLR) had an AUC of 0.76 (0.76-0.77) and a McFadden's R2 of 0.21 with a NRI of 47.6 %. A combined model including sex, hemoglobin, MCV, white blood cells, platelets, NLR, and oral hypoglycemic use had an AUC of 0.80 (0.79-0.81) with a McFadden's R2 of 0.27 and a NRI of 60.7 %. Similar results were shown in an internal validation set. A laboratory-based risk model had good predictive power for sporadic CRC risk.

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

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Procopciuc Lucia Maria

2014-03-01

Full Text Available Introducere: Variațiile genetice, cum ar fi cele care influențează sistemele de reparare a defectelor de replicare a ADN, pot reprezenta factori de susceptibilitate în cancerul colorectal sporadic (CCR ca urmare a interacțiunii cu factori de mediu. Material și metodă: 80 de femei și 70 de bărbați, pacienți diagnosticați cu CCR sporadic în Clinica Chirurgie III Cluj au fost genotipați pentru Arg399Gln-XRCC1, Lys751Gln-XPD și Met241Thr-XRCC3 utilizând metodele PCR-RFLP. Am determinat de asemenea, genotipurile pentru 100 femei și 62 bărbați , care au format grupul de control. Rezultatele au fost analizate din punct de vedere al relației cu factorii de risc de mediu, fumatul și dieta. Rezultate: Bărbații fumători purtători ai variațiilor genetice Arg399Gln, Lys751Gln, Met241Thr au avut un risc semnificativ crescut de 4.09 (95%IC[0.96-19.98],p=0.05, 5.95(95%IC[1.08-43.22],p=0.03 și respectiv 3.73(95%IC[0.86-18.53],p=0.05 de a dezvolta cancer colorectal sporadic. Un risc semnificativ crescut de a dezvolta cancer colorectal sporadic a fost observat în cazul femeilor și bărbaților cu o dietă bogată în carne roșie prăjită purtători ai variațiilor genetice Arg399Gln (OR 2.77 95%IC [1.34-6.82],p=0.015 și OR 8.64 95%IC[2.67-29.14],p<0.001, Lys751Gln (OR 4.12 95%IC[1.37-12.74],p=0.007 și OR 5.06 95%IC[1.4- 19.02],p=0.006, Met241Thr (OR5.92 95%IC[2.21-16.23],p<0.001 și OR 5.64 95%IC[1.52-21.7],p=0.022. Femeile a căror dietă a inclus cantități mari de carne roșie prăjită au avut un risc semnificativ crescut de a dezvolta timpuriu cancer colorectal sporadic dacă au fost purtătoare a variațiilor genetice Arg399Gln-XRCC1 (OR 5.14 95%IC[0.99-28.3],p=0.047, Thr241Met-XRCC3 (OR 6.67 95%IC[1.05-46.67],p=0.025 și Lys751Gln-XPD (OR 4.7 95%IC[0.99-23.32],p=0.034. Concluzii: În cazul populației de origine română, asocierea genotipurilor mutante cu factori de mediu modulează riscul pentru CCR sporadic. La femei

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

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

2008-01-07

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. Seven fluorescent labeled polymorphic microsatellite markers were analyzed in 83 cases of colorectal carcinoma and matched normal tissue DNA by PCR. PCR products were electrophoresed 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 c2 test. 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 (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).

Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.

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Peter Vasovcak

Full Text Available The Czech Republic has one of the highest incidences of colorectal cancer (CRC in Europe. To evaluate whether sporadic CRCs in Czech patients have specific mutational profiles we analysed somatic genetic changes in known CRC genes (APC, KRAS, TP53, CTNNB1, MUTYH and BRAF, loss of heterozygosity (LOH at the APC locus, microsatellite instability (MSI, and methylation of the MLH1 promoter in 103 tumours from 102 individuals. The most frequently mutated gene was APC (68.9% of tumours, followed by KRAS (31.1%, TP53 (27.2%, BRAF (8.7% and CTNNB1 (1.9%. Heterozygous germline MUTYH mutations in 2 patients were unlikely to contribute to the development of their CRCs. LOH at the APC locus was found in 34.3% of tumours, MSI in 24.3% and MLH1 methylation in 12.7%. Seven tumours (6.9% were without any changes in the genes tested. The analysis yielded several findings possibly specific for the Czech cohort. Somatic APC mutations did not cluster in the mutation cluster region (MCR. Tumours with MSI but no MLH1 methylation showed earlier onset and more severe mutational profiles compared to MSI tumours with MLH1 methylation. TP53 mutations were predominantly located outside the hot spots, and transitions were underrepresented. Our analysis supports the observation that germline MUTYH mutations are rare in Czech individuals with sporadic CRCs. Our findings suggest the influence of specific ethnic genetic factors and/or lifestyle and dietary habits typical for the Czech population on the development of these cancers.

Sporadic radio emission connected with a definite manifestation of solar activity in the near Earth space

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Dudnic, A. V.; Zaljubovski, I. I.; Kartashev, V. M.; Shmatko, E. S.

1985-01-01

Sporadic radio emission of near Earth space at the frequency of 38 MHz is shown to appear in the event of a rapid development of instabilities in the ionospheric plasma. The instabilities are generated due to primary ionospheric disturbances occurring under the influence of solar chromospheric flares.

A two-population sporadic meteoroid bulk density distribution and its implications for environment models

Science.gov (United States)

Moorhead, Althea V.; Blaauw, Rhiannon C.; Moser, Danielle E.; Campbell-Brown, Margaret D.; Brown, Peter G.; Cooke, William J.

2017-12-01

The bulk density of a meteoroid affects its dynamics in space, its ablation in the atmosphere, and the damage it does to spacecraft and lunar or planetary surfaces. Meteoroid bulk densities are also notoriously difficult to measure, and we are typically forced to assume a density or attempt to measure it via a proxy. In this paper, we construct a density distribution for sporadic meteoroids based on existing density measurements. We considered two possible proxies for density: the KB parameter introduced by Ceplecha and Tisserand parameter, TJ. Although KB is frequently cited as a proxy for meteoroid material properties, we find that it is poorly correlated with ablation-model-derived densities. We therefore follow the example of Kikwaya et al. in associating density with the Tisserand parameter. We fit two density distributions to meteoroids originating from Halley-type comets (TJ 2); the resulting two-population density distribution is the most detailed sporadic meteoroid density distribution justified by the available data. Finally, we discuss the implications for meteoroid environment models and spacecraft risk assessments. We find that correcting for density increases the fraction of meteoroid-induced spacecraft damage produced by the helion/antihelion source.

Single-Cell RNA-Seq of Mouse Dopaminergic Neurons Informs Candidate Gene Selection for Sporadic Parkinson Disease.

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Hook, Paul W; McClymont, Sarah A; Cannon, Gabrielle H; Law, William D; Morton, A Jennifer; Goff, Loyal A; McCallion, Andrew S

2018-03-01

Genetic variation modulating risk of sporadic Parkinson disease (PD) has been primarily explored through genome-wide association studies (GWASs). However, like many other common genetic diseases, the impacted genes remain largely unknown. Here, we used single-cell RNA-seq to characterize dopaminergic (DA) neuron populations in the mouse brain at embryonic and early postnatal time points. These data facilitated unbiased identification of DA neuron subpopulations through their unique transcriptional profiles, including a postnatal neuroblast population and substantia nigra (SN) DA neurons. We use these population-specific data to develop a scoring system to prioritize candidate genes in all 49 GWAS intervals implicated in PD risk, including genes with known PD associations and many with extensive supporting literature. As proof of principle, we confirm that the nigrostriatal pathway is compromised in Cplx1-null mice. Ultimately, this systematic approach establishes biologically pertinent candidates and testable hypotheses for sporadic PD, informing a new era of PD genetic research. Copyright © 2018 American Society of Human Genetics. All rights reserved.

Synchronous GISTs associated with multiple sporadic tumors: a case report

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Danila Comandini

2017-08-01

Full Text Available Gastrointestinal stromal tumors (GISTs are rare neoplasms, but they also represent the most common mesenchymal tumors of the gastrointestinal tract originating from the cell of Cajal. GIST incidence ranges around 1% of all gastrointestinal malignancies. Approximately 5% of all GISTs have a hereditary etiology. The remaining 95% of GISTs are considered sporadic events, with up to 75% of cases driven by a constitutional activation of the c-KIT proto-oncogene. GISTs are generally solitary lesions. Nonetheless, multiple sporadic GISTs can occur and present as synchronous or metachronous tumors, usually associated with familial GIST. Here, we report a case of primary prostate and lung tumors associated with gastric and small bowel GISTs, unrelated to any known hereditary syndrome. Also, in the case we describe, the prostatic tumor came before the GISTs, while the lung tumor occurred later in time and led to pulmonary lobectomy plus lymphoadenectomy, with a diagnosis of nonsmall cell lung cancer. With the exception of a slight difference in lymphoid infiltration, the abdominal and gastric GIST nodules shared the same proliferative MIB1 index and mitotic count. However, the genetic analysis revealed that the gastric GIST and abdominal tumors were characterized by two different c-KIT mutations. This molecular heterogeneity supported the hypothesis of two different synchronous GISTs arising from stomach and ileum. At present, the patient is disease free and has already completed the third year of adjuvant therapy with imatinib. This case supports the importance of the analysis of c-KIT mutational status to distinguish metastases from synchronous multicentric GISTs, with relevant implications in therapeutic decisions, as well as the importance of a dedicated multidisciplinary team and of a radiological follow-up after the diagnosis of a primary GIST, to discover a relapse of the GIST or, possibly, additional malignancies.

MicroRNAs discriminate familial from sporadic non-BRCA1/2 breast carcinoma arising in patients ≤35 years.

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Elen Pereira Bastos

Full Text Available The influence of genetic factors may contribute to the poor prognosis of breast cancer (BC at a very young age. However BRCA1/2 mutations could not explain the majority of cases arising in these patients. MicroRNAs (miRs have been implicated in biological processes associated with BC. Therefore, we investigated differences in miRs expression between tumors from young patients (≤35 years with sporadic or familial history and non-carriers of BRCA1/2 mutations. Thirty-six young Brazilian patients were divided into 2 groups: sporadic (NF-BC or familial breast cancer (F-BC. Most of the samples were classified as luminal A and B and the frequency of subtypes did not differ between familial or sporadic cases. Using real time qPCR and discriminant function analysis, we identified 9 miRs whose expression levels rather than miR identity can discriminate between both patient groups. Candidate predicted targets were determined by combining results from miRWalk algorithms with mRNA expression profiles (n = 91 differently expressed genes. MiR/mRNA integrated analysis identified 91 candidate genes showing positive or negative correlation to at least 1 of the 9 miRs. Co-expression analysis of these genes with 9 miRs indicated that 49 differentially co-expressed miR-gene interactions changes in F-BC tumors as compared to those of NF-BC tumors. Out of 49, 17 (34.6% of predicted miR-gene interactions showed an inverse correlation suggesting that miRs act as post-transcriptional regulators, whereas 14 (28.6% miR-gene pairs tended to be co-expressed in the same direction indicating that the effects exerted by these miRs pointed to a complex level of target regulation. The remaining 18 pairs were not predicted by our criteria suggesting involvement of other regulators. MiR-mRNA co-expression analysis allowed us to identify changes in the miR-mRNA regulation that were able to distinguish tumors from familial and sporadic young BC patients non-carriers of BRCA

Gastric Medullary Carcinoma with Sporadic Mismatch Repair Deficiency and a TP53 R273C Mutation: An Unusual Case with Wild-Type BRAF

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Brett M. Lowenthal

2017-01-01

Full Text Available Medullary carcinoma has long been recognized as a subtype of colorectal cancer associated with microsatellite instability and Lynch syndrome. Gastric medullary carcinoma is a very rare neoplasm. We report a 67-year-old male who presented with a solitary gastric mass. Total gastrectomy revealed a well-demarcated, poorly differentiated carcinoma with an organoid growth pattern, pushing borders, and abundant peritumoral lymphocytic response. The prior cytology was cellular with immunohistochemical panel consistent with upper gastrointestinal/pancreaticobiliary origin. Overall, the histopathologic findings were consistent with gastric medullary carcinoma. A mismatch repair panel revealed a mismatch repair protein deficient tumor with loss of MLH1 and PMS2 expression. BRAF V600E immunostain (VE1 and BRAF molecular testing were negative, indicating a wild-type gene. Tumor sequencing of MLH1 demonstrated a wild-type gene, while our molecular panel identified TP53 c.817C>T (p.R273C mutation. These findings were compatible with a sporadic tumor. Given that morphologically identical medullary tumors often occur in Lynch syndrome, it is possible that mismatch repair loss is an early event in sporadic tumors with p53 mutation being a late event. Despite having wild-type BRAF, this tumor is sporadic and unrelated to Lynch syndrome. This case report demonstrates that coordinate ancillary studies are needed to resolve sporadic versus hereditary rare tumors.

Relationship between blood harmane and harmine concentrations in familial essential tremor, sporadic essential tremor and controls.

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Louis, Elan D; Jiang, Wendy; Gerbin, Marina; Mullaney, Mary M; Zheng, Wei

2010-12-01

Harmane, a potent tremor-producing β-carboline alkaloid, may play a role in the etiology of essential tremor (ET). Blood harmane concentrations are elevated in ET cases compared with controls yet the basis for this elevation remains unknown. Decreased metabolic conversion (harmane to harmine) is one possible explanation. Using a sample of >500 individuals, we hypothesized that defective metabolic conversion of harmane to harmine might underlie the observed elevated harmane concentration in ET, and therefore expected to find a higher harmane to harmine ratio in familial ET than in sporadic ET or controls. Blood harmane and harmine concentrations were quantified by high performance liquid chromatography. There were 78 familial ET cases, 187 sporadic ET cases, and 276 controls. Blood harmane and harmine concentrations were correlated with one another (Spearman's r=0.24, p<0.001). The mean (±SD) harmane/harmine ratio=23.4±90.9 (range=0.1-987.5). The harmane/harmine ratio was highest in familial ET (46.7±140.4), intermediate in sporadic ET (28.3±108.1), and lowest in controls (13.5±50.3) (p=0.03). In familial ET cases, there was no association between this ratio and tremor severity (Spearman's r=0.08, p=0.48) or tremor duration (Spearman's r=0.14, p=0.24). The basis for the elevated blood harmane concentration, particularly in familial ET, is not known, although the current findings (highest harmane/harmine ratio in familial ET cases) lends support to the possibility that it could be the result of a genetically-driven reduction in harmane metabolism. Copyright © 2010 Elsevier Inc. All rights reserved.

Blood-flow restricted resistance training in patients with sporadic inclusion body myositis

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Jørgensen, A.; Aagaard, P.; Frandsen, U.

2018-01-01

Objectives: To investigate the effect of 12 weeks of low-load blood-flow restricted resistance (BFR) training on self-reported and objective physical function, and maximal muscle strength in patients with sporadic inclusion body myositis (sIBM). Method: Twenty-two patients with sIBM were randomized......), which was used to measure self-reported physical function. All patients performed physical function tests (2-Minute Walk Test, Timed Up and Go, and 30-Second Chair Stand), completed the Inclusion Body Myositis Functional Rating Scale (IBMFRS), and were tested for isolated knee extensor muscle strength...

Local particle flux reversal under strongly sheared flow

International Nuclear Information System (INIS)

Terry, P.W.; Newman, D.E.; Ware, A.S.

2003-01-01

The advection of electron density by turbulent ExB flow with linearly varying mean yields a particle flux that can reverse sign at certain locations along the direction of magnetic shear. The effect, calculated for strong flow shear, resides in the density-potential cross phase. It is produced by the interplay between the inhomogeneities of magnetic shear and flow shear, but subject to a variety of conditions and constraints. The regions of reversed flux tend to wash out if the turbulence consists of closely spaced modes of different helicities, but survive if modes of a single helicity are relatively isolated. The reversed flux becomes negligible if the electron density response is governed by electron scales while the eigenmode is governed by ion scales. The relationship of these results to experimentally observe flux reversals is discussed

77 FR 35711 - Strong Cities, Strong Communities National Resource Network Pilot Program Advance Notice and...

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2012-06-14

... economic need, strong local leadership and collaboration, potential for economic growth, geographic... $1 million that they will use to administer an ``X-prize style'' competition, whereby they will... founding mandate in the 1965 Department of Housing and Urban Development Act to ``Exercise leadership at...

Strong monotonicity in mixed-state entanglement manipulation

International Nuclear Information System (INIS)

Ishizaka, Satoshi

2006-01-01

A strong entanglement monotone, which never increases under local operations and classical communications (LOCC), restricts quantum entanglement manipulation more strongly than the usual monotone since the usual one does not increase on average under LOCC. We propose strong monotones in mixed-state entanglement manipulation under LOCC. These are related to the decomposability and one-positivity of an operator constructed from a quantum state, and reveal geometrical characteristics of entangled states. These are lower bounded by the negativity or generalized robustness of entanglement

Association of apolipoprotein E allele {epsilon}4 with late-onset sporadic Alzheimer`s disease

Energy Technology Data Exchange (ETDEWEB)

Lucotte, G.; David, F.; Berriche, S. [Regional Center of Neurogenetics, Reims (France)] [and others

1994-09-15

Apolipoprotein E, type {epsilon}4 allele (ApoE {epsilon}4), is associated with late-onset sporadic Alzheimer`s disease (AD) in French patients. The association is highly significant (0.45 AD versus 0.12 controls for {epsilon}4 allele frequencies). These data support the involvement of ApoE {epsilon}4 allele as a very important risk factor for the clinical expression of AD. 22 refs., 1 fig., 3 tabs.

Differences in histological features and PD-L1 expression between sporadic microsatellite instability and Lynch-syndrome-associated disease in Japanese patients with colorectal cancer.

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Yamada, Rin; Yamaguchi, Tatsuro; Iijima, Takeru; Wakaume, Rika; Takao, Misato; Koizumi, Koichi; Hishima, Tsunekazu; Horiguchi, Shin-Ichiro

2018-06-01

The field of immunotherapy has recently focused on cancers with microsatellite instability (MSI). These cancers include both Lynch-syndrome-associated tumors, which are caused by mismatch repair (MMR) germline mutations, and sporadic MSI tumors, which are mainly attributed to MLH1 promoter methylation. The present study aimed to clarify differences in the histological and PD-L1 expression profiles between these two types of MSI cancers in Japanese patients. Among 908 cases of colorectal cancer treated via surgical resection from 2008 to 2014, we identified 64 MSI cancers, including 36 sporadic MSI and 28 Lynch-syndrome-associated cancers, using a BRAF V600E mutation analysis and MLH1 methylation analysis. Of the latter subgroup, 21 (75%) harbored MMR germline mutations. The following were more frequent with sporadic MSI than with Lynch syndrome associated cancers: poor differentiation (50.0 vs. 7.1%, P = 0.0002), especially solid type (30.6 vs. 3.6%, P = 0.0061); medullary morphology (19.4 and 0%, P = 0.015), Crohn-like lymphoid reaction (50.0 vs. 25.0%, P = 0.042), and PD-L1 expression (25.0 vs. 3.6%, P = 0.034). However, the groups did not differ in terms of the mean invasive front and intratumoral CD8-positive cell densities. In a logistic regression analysis, PD-L1 expression correlated with poor differentiation (odds ratio: 7.65, 95% confidence interval: 1.55-37.7, P = 0.012), but not with the difference between sporadic MSI cancer and Lynch-syndrome-associated cancer (odds ratio: 4.74, 95% confidence interval: 0.50-45.0, P = 0.176). Therefore, compared with Lynch-syndrome-associated cancers, sporadic MSI cancers are more frequently solid, poorly differentiated medullary cancers that express PD-L1.

Seizures in E200K familial and sporadic Creutzfeldt-Jakob disease.

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Appel, S; Chapman, J; Cohen, O S; Rosenmann, H; Nitsan, Z; Blatt, I

2015-03-01

Although seizures (other than myoclonus) are frequently reported in Creutzfeldt-Jakob disease (CJD), their frequency, clinical manifestations, and effect on the disease course is unknown. To characterize the frequency of seizures in E200K familial and sporadic CJD, to describe its semiology, EEG and MRI findings. In this retrospective study, we reviewed all patients with CJD who were seen in the Sheba Medical Center between the years 2003-2012 and underwent clinical evaluation, genetic testing, EEG and MRI studies. The diagnosis of seizures was carried out based on documentation of episodes consistent with seizures or episode of unresponsiveness correlated with ictal activity in EEG. Sixty-four probable patients with CJD were included in the study, 57 (89%) with E200K familial (fCJD) and 7 (11%) with sporadic (sCJD). Seizures occurred in 8 patients: 3 of 7 (43%) in patients with sCJD compared to 5/57 (9%) in patients with E200K fCJD (P = 0.04, chi-square test). Two of E200K fCJD patients with seizures had other non-prion etiologies for seizures (brain metastasis, known history of temporal lobe epilepsy which started 44 years before the diagnosis of CJD). Seizures occurred late in the course of the disease with an average of 12 days between the onset of seizures and death. Seizures in E200K fCJD were infrequent and occurred late in the disease course. This difference suggests that E200K fCJD represents a separate subtype of the disease with distinct clinical characteristics. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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

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Jeong Byung-Hoon

2011-08-01

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

Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease

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Hsin Fen Chien

2014-05-01

Full Text Available 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 from 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.

Sporadic Retinoblastoma and Parental Smoking and Alcohol Consumption before and after Conception: A Report from the Children's Oncology Group.

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Saeedeh Azary

Full Text Available Retinoblastoma is the most frequent tumor of the eye in children and very little is known about the etiology of non-familial (sporadic retinoblastoma. In this study we examined whether parental tobacco smoking or alcohol consumption (pre- or post-conception contribute to the two phenotypes (bilateral or unilateral of sporadic retinoblastoma.Two large multicenter case-control studies identified 488 cases through eye referral centers in the United States and Canada or through the Children's Oncology Group. Controls (n = 424 were selected from among friends and relatives of cases and matched by age. Risk factor information was obtained via telephone interview. We employed multivariable logistic regression to estimate the effects of parental tobacco smoking and alcohol consumption on retinoblastoma.Maternal smoking before and during pregnancy contributed to unilateral retinoblastoma risk in the child: year before pregnancy conditional Odds Ratio (OR, 8.9; 95% confidence interval (CI 1.5-51, and unconditional OR, 2.4; 95% CI, 1.3-4.7; month before or during pregnancy, conditional OR, 3.3; 95% CI, 0.5-20.8, and unconditional OR, 2.8; 95% CI, 1.1-7.0. No association was found for maternal or paternal alcohol consumption.The results of this study indicate that maternal active smoking during pregnancy may be a risk factor for sporadic retinoblastoma. Our study supports a role for tobacco exposures in embryonal tumors.

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

DEFF Research Database (Denmark)

Schlehofer, B; Schlaefer, K; Blettner, M

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.......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....

Percutaneous Cryoablation of Solitary, Sporadic Renal Cell Carcinoma: Outcome Analysis Based on Clear-Cell versus Papillary Subtypes.

Science.gov (United States)

Haddad, Mustafa M; Schmit, Grant D; Kurup, A Nicholas; Schmitz, John J; Boorjian, Stephen A; Geske, Jennifer; Thompson, R Houston; Callstrom, Matthew R; Atwell, Thomas D

2018-06-07

To evaluate treatment outcomes with percutaneous cryoablation (PCA) based on renal cell carcinoma (RCC) histology. Patients treated with PCA for a solitary, sporadic stage T1a RCC from 2003 to 2016 were identified from a single institution's renal ablation registry. Patients with multiple tumors, history of RCC, or genetic syndromes associated with RCC (n = 60); no specific RCC subtype determined from core biopsy (n = 66); RCC subtype other than clear-cell or papillary (n = 7); or less than 3 mo of follow-up imaging (n = 5) were excluded. In total, 173 patients met study inclusion criteria. Oncologic outcomes, clinical outcomes, and complications were evaluated based on tumor subtype. Of the 173 patients who underwent PCA for a stage T1a RCC, 130 (75%) had clear-cell RCC (ccRCC) and 43 (25%) had papillary RCC (pRCC). Median tumor size was 2.9 cm (range, 1.3-4.0 cm). Technically successful cryoablation was achieved in all 173 patients. Local tumor recurrence developed in 6 patients with ccRCC (4.6%), new renal tumors developed in 1 patient (0.8%), and metastatic RCC developed in 1 patient (0.8%) who also had local tumor recurrence. No patients with pRCC showed local tumor recurrence, new renal tumors, or metastatic disease. The 5-year disease-free survival rate in patients with ccRCC was 88%, compared with 100% in patients with pRCC (P = .48). Nine patients (5.2%), all with ccRCC, experienced major complications (P = .11). Percutaneous ablation is a viable treatment option for patients with clinical stage T1a pRCC and ccRCC. Percutaneous ablation may be a very favorable treatment strategy particularly for pRCC. Copyright © 2018 SIR. Published by Elsevier Inc. All rights reserved.

Inactivation of the Tumor Suppressor Genes Causing the Hereditary Syndromes Predisposing to Head and Neck Cancer via Promoter Hypermethylation in Sporadic Head and Neck Cancers

OpenAIRE

Smith, Ian M.; Mithani, Suhail K.; Mydlarz, Wojciech K.; Chang, Steven S.; Califano, Joseph A.

2010-01-01

Fanconi anemia (FA) and dyskeratosis congenita (DC) are rare inherited syndromes that cause head and neck squamous cell cancer (HNSCC). Prior studies of inherited forms of cancer have been extremely important in elucidating tumor suppressor genes inactivated in sporadic tumors. Here, we studied whether sporadic tumors have epigenetic silencing of the genes causing the inherited forms of HNSCC. Using bisulfite sequencing, we investigated the incidence of promoter hypermethylation of the 17 Fan...

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

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D. L. Hysell

2004-09-01

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

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

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

1994-05-01

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 consisting of 11 to 24 DNA fragments ranging in size from 20 to 630 kbp. Analysis of the REA patterns generated by PFGE after digestion with XbaI and SpeI indicated that the S. typhi isolates obtained from sporadic cases of infection were much more heterogeneous (at least 13 different REA patterns were detected; Dice coefficient, between 0.73 and 1.0) than those obtained during outbreaks of typhoid fever. The clonal nature and the close genetic identities of isolates from outbreaks in Alor Setar, Penang, Kota Kinabalu, Johor Bahru, and Kota Bahru were suggested by the fact that only a limited number of REA patterns, which mostly differed by only a single band, were detected (one to four patterns; Dice coefficient, between 0.82 and 1.0), although a different pattern was associated with each of these outbreaks. Comparison of REA patterns with ribotyping for 18 S. typhi isolates involved in sporadic cases of infection showed a good correlation, in that 72% of the isolates were in the same group. There was no clear correlation of phage types with a specific REA pattern. We conclude that PFGE of s. typhi chromosomal DNA digested with infrequently cutting restriction endonucleases is a useful method for comparing and differentiating S. typhi isolates for epidemiological purposes.

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; Wang, Kai

2011-01-01

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...

Sporadic diffuse segmental interstitial cell of Cajal hyperplasia harbouring two gastric gastrointestinal stromal tumours (GIST mimicking hereditary GIST syndromes

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Mafalda Costa Neves

2015-01-01

Conclusion: We describe a diffuse form of sporadic ICC hyperplasia harbouring multifocal GISTs, mimicking diffuse ICC hyperplasia in hereditary GIST syndromes. Detection of somatic c-KIT exon 11 mutation ruled out a hereditary disorder.

Irrelevance of microsatellite instability in the epidemiology of sporadic pancreatic ductal adenocarcinoma.

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Luigi Laghi

Full Text Available Pancreatic cancer risk is increased in Lynch syndrome (LS patients with mismatch repair gene defects predisposing to colonic and extracolonic cancers with microsatellite instability (MSI. However, the frequency of MSI pancreatic cancers has never been ascertained in consecutive, unselected clinical series, and their contribution to the sporadic and inherited burden of pancreatic cancer remains to be established. Aims of the study were to determine the prevalence of MSI in surgically resected pancreatic cancers in a multicentric, retrospective study, and to assess the occurrence of pancreatic cancer in LS.MS-status was screened by a panel of 5 mononucleotide repeats (Bat26, Bat25, NR-21, NR-24 and NR-27 in 338 consecutive pancreatic ductal adenocarcinoma (PDAC, resected at two Italian and one German referral centres. The personal history of pancreatic cancer was assessed in an independent set of 58 probands with LS and in 138 first degree relatives who had cancers.Only one PDAC (0.3% showed MSI. This was a medullary type cancer, with hMLH1-deficiency, and no identified germ-line mutation but methylation of hMLH1. Pancreatic cancer occurred in 5 (2.5% LS patients. Histological sampling was available for 2 cases, revealing PDAC in one case and an ampullary cancer in the other one.MSI prevalence is negligible in sporadic, resected PDAC. Differently, the prevalence of pancreatic cancer is 2.5% in LS patients, and cancers other than PDAC may be encountered in this setting. Surveillance for pancreatic cancer should be advised in LS mutation carriers at referral centers.

Familial or Sporadic Idiopathic Scoliosis – classification based on artificial neural network and GAPDH and ACTB transcription profile

Science.gov (United States)

2013-01-01

Background Importance of hereditary factors in the etiology of Idiopathic Scoliosis is widely accepted. In clinical practice some of the IS patients present with positive familial history of the deformity and some do not. Traditionally about 90% of patients have been considered as sporadic cases without familial recurrence. However the exact proportion of Familial and Sporadic Idiopathic Scoliosis is still unknown. Housekeeping genes encode proteins that are usually essential for the maintenance of basic cellular functions. ACTB and GAPDH are two housekeeping genes encoding respectively a cytoskeletal protein β-actin, and glyceraldehyde-3-phosphate dehydrogenase, an enzyme of glycolysis. Although their expression levels can fluctuate between different tissues and persons, human housekeeping genes seem to exhibit a preserved tissue-wide expression ranking order. It was hypothesized that expression ranking order of two representative housekeeping genes ACTB and GAPDH might be disturbed in the tissues of patients with Familial Idiopathic Scoliosis (with positive family history of idiopathic scoliosis) opposed to the patients with no family members affected (Sporadic Idiopathic Scoliosis). An artificial neural network (ANN) was developed that could serve to differentiate between familial and sporadic cases of idiopathic scoliosis based on the expression levels of ACTB and GAPDH in different tissues of scoliotic patients. The aim of the study was to investigate whether the expression levels of ACTB and GAPDH in different tissues of idiopathic scoliosis patients could be used as a source of data for specially developed artificial neural network in order to predict the positive family history of index patient. Results The comparison of developed models showed, that the most satisfactory classification accuracy was achieved for ANN model with 18 nodes in the first hidden layer and 16 nodes in the second hidden layer. The classification accuracy for positive Idiopathic

Predictors of Preoperative Tinnitus in Unilateral Sporadic Vestibular Schwannoma

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Georgios Naros

2017-08-01

Full Text Available ObjectiveNearly two-thirds of patients with vestibular schwannoma (VS are reporting a significantly impaired quality of life due to tinnitus. VS-associated tinnitus is attributed to an anatomical and physiological damage of the hearing nerve by displacing growth of the tumor. In contrast, the current pathophysiological concept of non-VS tinnitus hypothesizes a maladaptive neuroplasticity of the central nervous system to a (hidden hearing impairment resulting in a subjective misperception. However, it is unclear whether this concept fits to VS-associated tinnitus. This study aims to determine the clinical predictors of VS-associated tinnitus to ascertain the compatibility of both pathophysiological concepts.MethodsThis retrospective study includes a group of 478 neurosurgical patients with unilateral sporadic VS evaluated preoperatively regarding the occurrence of ipsilateral tinnitus depending on different clinical factors, i.e., age, gender, tumor side, tumor size (T1–T4 according to the Hannover classification, and hearing impairment (Gardner–Robertson classification, GR1–5, using a binary logistic regression.Results61.8% of patients complain about a preoperative tinnitus. The binary logistic regression analysis identified male gender [OR 1.90 (1.25–2.75; p = 0.002] and hearing impairment GR3 [OR 1.90 (1.08–3.35; p = 0.026] and GR4 [OR 8.21 (2.29–29.50; p = 0.001] as positive predictors. In contrast, patients with large T4 tumors [OR 0.33 (0.13–0.86; p = 0.024] and complete hearing loss GR5 [OR 0.36 (0.15–0.84; p = 0.017] were less likely to develop a tinnitus. Yet, 60% of the patients with good clinical hearing (GR1 and 25% of patients with complete hearing loss (GR5 suffered from tinnitus.ConclusionThese data are good accordance with literature about non-VS tinnitus indicating hearing impairment as main risk factor. In contrast, complete hearing loss appears a negative predictor for tinnitus. For the first

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.

Science.gov (United States)

Shastry, B S; Hejtmancik, J F; Trese, M T

1997-01-01

X-linked Familial Exudative Vitreoretinopathy (XLFEVR) is a hereditary eye disorder that affects both the retina and the vitreous body. It is characterized by an abnormal vascularization of the peripheral retina. It has been previously shown by linkage and candidate gene analysis that XLFEVR and Norrie disease are allelic. In this report we describe four novel mutations (R41K, H42R, K58N, and Y120C) in the Norrie disease gene associated with one X-linked and four sporadic cases of FEVR. One mutation (H42R) was found to be segregating with the disease in three generations (X-linked family), and the others are sporadic. These sequence alterations changed the encoded amino acids in the Norrie disease protein and were not found in 17 unaffected family members or in 36 randomly selected normal individuals. This study provides additional evidence that mutations in the same gene can result in FEVR and Norrie disease. It also demonstrates that it may be beneficial for clinical diagnosis to screen for mutations in the Norrie disease gene in sporadic FEVR cases.

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.

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Daly, Adrian F; Yuan, Bo; Fina, Frederic; Caberg, Jean-Hubert; Trivellin, Giampaolo; Rostomyan, Liliya; de Herder, Wouter W; Naves, Luciana A; Metzger, Daniel; Cuny, Thomas; Rabl, Wolfgang; Shah, Nalini; Jaffrain-Rea, Marie-Lise; Zatelli, Maria Chiara; Faucz, Fabio R; Castermans, Emilie; Nanni-Metellus, Isabelle; Lodish, Maya; Muhammad, Ammar; Palmeira, Leonor; Potorac, Iulia; Mantovani, Giovanna; Neggers, Sebastian J; Klein, Marc; Barlier, Anne; Liu, Pengfei; Ouafik, L'Houcine; Bours, Vincent; Lupski, James R; Stratakis, Constantine A; Beckers, Albert

2016-04-01

Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101 We studied XLAG syndrome patients (n= 18) to determine if somatic mosaicism contributed to the genomic pathophysiology. Eighteen subjects with XLAG syndrome caused by Xq26.3 duplications were identified using high-definition array comparative genomic hybridization (HD-aCGH). We noted that males with XLAG had a decreased log2ratio (LR) compared with expected values, suggesting potential mosaicism, whereas females showed no such decrease. Compared with familial male XLAG cases, sporadic males had more marked evidence for mosaicism, with levels of Xq26.3 duplication between 16.1 and 53.8%. These characteristics were replicated using a novel, personalized breakpoint junction-specific quantification droplet digital polymerase chain reaction (ddPCR) technique. Using a separate ddPCR technique, we studied the feasibility of identifying XLAG syndrome cases in a distinct patient population of 64 unrelated subjects with acromegaly/gigantism, and identified one female gigantism patient who had had increased copy number variation (CNV) threshold for GPR101 that was subsequently diagnosed as having XLAG syndrome on HD-aCGH. Employing a combination of HD-aCGH and novel ddPCR approaches, we have demonstrated, for the first time, that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at chromosome Xq26.3. Somatic mosaicism was shown to occur in sporadic males but not in females with XLAG syndrome, although the clinical characteristics of the disease were similarly severe in both sexes. © 2016 Society for Endocrinology.

Functional impairment in patients with sporadic Inclusion Body Myositis.

Science.gov (United States)

Dunlap, Heather V; Macneil, Lauren G; Tarnopolsky, Mark A

2014-03-01

We conducted a retrospective chart review of 53 patients diagnosed with sporadic Inclusion Body Myositis (sIBM) who have been followed at the McMaster Neuromuscular Clinic since 1996. We reviewed patient medical histories in order to compare our findings with similar cohorts, and analyzed quantitative strength data to determine functionality in guiding decisions related to gait assistive devices. Patient information was acquired through retrospective clinic chart review. Our study found knee extension strength decreased significantly as patients transitioned to using more supportive gait assistive devices (P cane)(P Falls and fear of falling poses a significant threat to patient physical well-being. The prevalence of dysphagia increased as patients required more supportive gait devices, and finally a significant negative correlation was found between time after onset and creatine kinase (CK) levels (P falling would be beneficial in preventing future falls and improving long-term patient outcomes.

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.

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Bayley, Jean-Pierre; Kunst, Henricus P M; Cascon, Alberto; Sampietro, Maria Lourdes; Gaal, José; Korpershoek, Esther; Hinojar-Gutierrez, Adolfo; Timmers, Henri J L M; Hoefsloot, Lies H; Hermsen, Mario A; Suárez, Carlos; Hussain, A Karim; Vriends, Annette H J T; Hes, Frederik J; Jansen, Jeroen C; Tops, Carli M; Corssmit, Eleonora P; de Knijff, Peter; Lenders, Jacques W M; Cremers, Cor W R J; Devilee, Peter; Dinjens, Winand N M; de Krijger, Ronald R; Robledo, Mercedes

2010-04-01

Paragangliomas and phaeochromocytomas are neuroendocrine tumours associated frequently with germline mutations of SDHD, SDHC, and SDHB. Previous studies have shown the imprinted SDHAF2 gene to be mutated in a large Dutch kindred with paragangliomas. We aimed to identify SDHAF2 mutation carriers, assess the clinical genetic significance of SDHAF2, and describe the associated clinical phenotype. We undertook a multicentre study in Spain and The Netherlands in 443 apparently sporadic patients with paragangliomas and phaeochromocytomas who did not have mutations in SDHD, SDHC, or SDHB. We analysed DNA of 315 patients for germline mutations of SDHAF2; a subset (n=200) was investigated for gross gene deletions. DNA from a group of 128 tumours was studied for somatic mutations. We also examined a Spanish family with head and neck paragangliomas with a young age of onset for the presence of SDHAF2 mutations, undertook haplotype analysis in this kindred, and assessed their clinical phenotype. We did not identify any germline or somatic mutations of SDHAF2, and no gross gene deletions were noted in the subset of apparently sporadic patients analysed. Investigation of the Spanish family identified a pathogenic germline DNA mutation of SDHAF2, 232G-->A (Gly78Arg), identical to the Dutch kindred. SDHAF2 mutations do not have an important role in phaeochromocytoma and are rare in head and neck paraganglioma. Identification of a second family with the Gly78Arg mutation suggests that this is a crucial residue for the function of SDHAF2. We conclude that SDHAF2 mutation analysis is justified in very young patients with isolated head and neck paraganglioma without mutations in SDHD, SDHC, or SDHB, and in individuals with familial antecedents who are negative for mutations in all other risk genes. Dutch Cancer Society, European Union 6th Framework Program, Fondo Investigaciones Sanitarias, Fundación Mutua Madrileña, and Red Temática de Investigación Cooperativa en Cáncer. 2010

PRKAG3 polymorphisms associated with sporadic Wolff-Parkinson-White syndrome among a Taiwanese population.

Science.gov (United States)

Weng, Ken-Pen; Yuh, Yeong-Seng; Huang, Shih-Hui; Hsiao, Hsiang-Chiang; Wu, Huang-Wei; Chien, Jen-Hung; Chen, Bo-Hau; Huang, Shih-Ming; Chien, Kuang-Jen; Ger, Luo-Ping

2016-12-01

The aim of this study was to investigate whether mutation in AMP-activated protein kinase (AMPK) subunit genes (PRKAG3-230) is associated with sporadic, isolated Wolff-Parkinson-White (WPW) syndrome. This study consisted of 87 patients with symptomatic WPW syndrome and 93 healthy controls. PRKAG3-230 genotypes were determined using real-time polymerase chain reaction assay. Genotype and allele frequencies of PRKAG3-230 between patients with WPW syndrome and healthy controls were ascertained using chi-square test or Fisher exact test when appropriate. PRKAG3-230 were genotyped in 87 patients (53 men and 34 women; age=24.4±18.0 years) with WPW syndrome and 93 healthy controls (57 men and 36 women; age=16.8±4.2 years). There were no significant differences between the two groups in terms of age and sex. The patients with CG and CG+CC genotypes had a significantly increased risk of WPW syndrome compared with those with GG genotype [odds ratio (OR)=1.99, 95% confidence interval (CI)=1.01-3.89, p=0.045; OR=1.99, 95% CI=1.04-3.78, p=0.037, respectively]. The allelic types were not associated with the risk of WPW syndrome. The patients with manifest type with CG and CG+CC genotypes had a significantly increased risk of WPW syndrome compared with those with GG genotype (OR=2.86, 95% CI=1.16-7.05, p=0.022; OR=2.84, 95% CI=1.19-6.80, p=0.019, respectively). The patients with right-side accessory pathways with CG and CG+CC genotypes had a significantly increased risk of WPW syndrome compared with those with GG genotype (OR=3.07, 95% CI=1.25-7.51, p=0.014; OR=2.84, 95% CI=1.19-6.80, p=0.019, respectively). The allelic types were not associated with the risk of WPW types and locations. This study shows that PRKAG3-230 may be associated with sporadic WPW syndrome among a Taiwanese population. Further studies are warranted to elucidate the role of mutations in AMPK subunit genes other than PRKAG3-230 in sporadic WPW syndrome. Copyright © 2016. Published by Elsevier Taiwan LLC.

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 ČR 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

Positive 14-3-3 and tau proteins in a sporadic Creutzfeldt-Jakob disease case and a brief perspective of prion diseases in Colombia.

Science.gov (United States)

Escandón-Vargas, Kevin; Zorrilla-Vaca, Andrés; Corral-Prado, Raúl Heli

2016-02-24

Prion diseases are rare neurodegenerative disorders occurring worldwide and affecting both humans and animals. Herein, we present the case of a patient diagnosed with definite sporadic Creutzfeldt-Jakob disease in Cali, Colombia. Besides neurological examination, 14-3-3 and tau proteins were valuable tools supporting the diagnosis. We also present a brief perspective of the prion diseases reported in Colombia to date. Although the incidence of prion diseases is unknown in Colombia, our literature review revealed that one case of scrapie in 1981 and 29 human sporadic cases of Creutzfeldt-Jakob disease have been documented and published in our country.

Epidemiological evaluation of sporadic cases of Norovirus infection in comunitary and hospitalized patients

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Sara Giordana Rimoldi

2009-03-01

Full Text Available Surveillace of viral gastoenteritis infections is very poor in Italy, even if starting from 2004 Norovirus became one of the most causative agent of infections in all the seasons. The aim of our study was to evaluate the isolation of Norovirus both in hospitalizes patients and communitary patients. From October 2006 to March 2008 we examined 400 samples. Our results showed only 15 sporadic cases in pediatric, HIV comunitary patients. These cases were analyzed by using an ELISA screening (Biopharm and the results were confirmed with real time PCT (Argene.

Strong Coupling Corrections in Quantum Thermodynamics

Science.gov (United States)

Perarnau-Llobet, M.; Wilming, H.; Riera, A.; Gallego, R.; Eisert, J.

2018-03-01

Quantum systems strongly coupled to many-body systems equilibrate to the reduced state of a global thermal state, deviating from the local thermal state of the system as it occurs in the weak-coupling limit. Taking this insight as a starting point, we study the thermodynamics of systems strongly coupled to thermal baths. First, we provide strong-coupling corrections to the second law applicable to general systems in three of its different readings: As a statement of maximal extractable work, on heat dissipation, and bound to the Carnot efficiency. These corrections become relevant for small quantum systems and vanish in first order in the interaction strength. We then move to the question of power of heat engines, obtaining a bound on the power enhancement due to strong coupling. Our results are exemplified on the paradigmatic non-Markovian quantum Brownian motion.

Rainfall is a risk factor for sporadic cases of Legionella pneumophila pneumonia.

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Carolina Garcia-Vidal

Full Text Available It is not known whether rainfall increases the risk of sporadic cases of Legionella pneumonia. We sought to test this hypothesis in a prospective observational cohort study of non-immunosuppressed adults hospitalized for community-acquired pneumonia (1995-2011. Cases with Legionella pneumonia were compared with those with non-Legionella pneumonia. Using daily rainfall data obtained from the regional meteorological service we examined patterns of rainfall over the days prior to admission in each study group. Of 4168 patients, 231 (5.5% had Legionella pneumonia. The diagnosis was based on one or more of the following: sputum (41 cases, antigenuria (206 and serology (98. Daily rainfall average was 0.556 liters/m(2 in the Legionella pneumonia group vs. 0.328 liters/m(2 for non-Legionella pneumonia cases (p = 0.04. A ROC curve was plotted to compare the incidence of Legionella pneumonia and the weighted median rainfall. The cut-off point was 0.42 (AUC 0.54. Patients who were admitted to hospital with a prior weighted median rainfall higher than 0.42 were more likely to have Legionella pneumonia (OR 1.35; 95% CI 1.02-1.78; p = .03. Spearman Rho correlations revealed a relationship between Legionella pneumonia and rainfall average during each two-week reporting period (0.14; p = 0.003. No relationship was found between rainfall average and non-Legionella pneumonia cases (-0.06; p = 0.24. As a conclusion, rainfall is a significant risk factor for sporadic Legionella pneumonia. Physicians should carefully consider Legionella pneumonia when selecting diagnostic tests and antimicrobial therapy for patients presenting with CAP after periods of rainfall.

Sporadic frame dropping impact on quality perception

Science.gov (United States)

Pastrana-Vidal, Ricardo R.; Gicquel, Jean Charles; Colomes, Catherine; Cherifi, Hocine

2004-06-01

Over the past few years there has been an increasing interest in real time video services over packet networks. When considering quality, it is essential to quantify user perception of the received sequence. Severe motion discontinuities are one of the most common degradations in video streaming. The end-user perceives a jerky motion when the discontinuities are uniformly distributed over time and an instantaneous fluidity break is perceived when the motion loss is isolated or irregularly distributed. Bit rate adaptation techniques, transmission errors in the packet networks or restitution strategy could be the origin of this perceived jerkiness. In this paper we present a psychovisual experiment performed to quantify the effect of sporadically dropped pictures on the overall perceived quality. First, the perceptual detection thresholds of generated temporal discontinuities were measured. Then, the quality function was estimated in relation to a single frame dropping for different durations. Finally, a set of tests was performed to quantify the effect of several impairments distributed over time. We have found that the detection thresholds are content, duration and motion dependent. The assessment results show how quality is impaired by a single burst of dropped frames in a 10 sec sequence. The effect of several bursts of discarded frames, irregularly distributed over the time is also discussed.

Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer

International Nuclear Information System (INIS)

Cox, David G; Kraft, Peter; Hankinson, Susan E; Hunter, David J

2005-01-01

Truncation mutations in the BRCA1 gene cause a substantial increase in risk of breast cancer. However, these mutations are rare in the general population and account for little of the overall incidence of sporadic breast cancer. We used whole-gene resequencing data to select haplotype tagging single nucleotide polymorphisms, and examined the association between common haplotypes of BRCA1 and breast cancer in a nested case-control study in the Nurses' Health Study (1323 cases and 1910 controls). One haplotype was associated with a slight increase in risk (odds ratio 1.18, 95% confidence interval 1.02–1.37). A significant interaction (P = 0.05) was seen between this haplotype, positive family history of breast cancer, and breast cancer risk. Although not statistically significant, similar interactions were observed with age at diagnosis and with menopausal status at diagnosis; risk tended to be higher among younger, pre-menopausal women. We have described a haplotype in the BRCA1 gene that was associated with an approximately 20% increase in risk of sporadic breast cancer in the general population. However, the functional variant(s) responsible for the association are unclear

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

International Nuclear Information System (INIS)

Kringen, Pedro; Wang, Yun; Dumeaux, Vanessa; Kristensen, Gunnar; Borresen-Dale, Anne-Lise; Dorum, Anne

2005-01-01

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

[Correlation anslysis of sporadic breast cancer and BRCA1 gene plymorphisms in the Han Nationality and the Mongol Nationality of Inner Mongolia Region].

Science.gov (United States)

Ma, Jinzhu; Liu, Ming; Zhang, Xinlai; BuRi, Gude

2015-12-08

To study the correlationship between the BRCA1 gene polymorphisms, especially in 2731 loci (rs799917), and sporadic breast cancer in the Han nationality and the Mongol nationality of the Inner Mongolia region. Using the prospective study method, 103 cases of patients with sporadic breast cancer (case group) and 103 cases of normal physical examination people (control group) were enrolled. PCR and direct sequencing method were used for analyzing the correlationship of 2731 loci polymorphisms of BRCA1 and sporadic breast cancer in our zone. In the case group, the age stratification, pathologic stage, immunohistochemistry and the distribution of lymph node metastasis had no significant difference in two ethnic group (P> 0.05). The age stratification of control group also had no significant difference in two ethnic group (P>0. 05). There was no statistically significant difference in age stratification of the case group and the control group (P>0.05). In the Inner Mongolia region, BRCA1 gene 2731 loci genotypes check out three genotypes: namely TT, CT and CC. The frequencies of genotype TT, CT, CC in the case group were 13.1%, 26.2%, 60.7% ( the Han nationality) and 16.7%, 28.6%, 54.7% (the Mongol nationality), respectively. Meanwhile the frequencies of allele T and allele C were 71.8% and 28.2%. In the control group, the frequencies of genotype TT, CT, CC were 18.0%, 31.1%, 50.9% ( the Han nationality) and 23.8%, 38.1%, 38.1% ( the Mongol nationality), respectively, and the frequencies of allele T and allele C were 62.9% and 37.1%. BRCA1 gene 2 731 loci gene polymorphism had no significant difference in two groups (χ(2)=3.438, P=0.752), but T allele frequency distribution in the case group was significantly increased (χ(2)=4.185, P=0.041). There is no obvious correlation between the BRCA1 gene 2731 loci and sporadic breast cancer in the Han nationality and the Mongol nationality of the Inner Mongolia region. C allele of BRCA1 gene 2731 loci may be one of the

OUTPATIENT PHYSICAL THERAPY EVALUATION AND TREATMENT OF A PATIENT DIAGNOSED WITH SPORADIC INCLUSION BODY MYOSITIS: A CASE STUDY

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Tyler Harrigfeld

2017-08-01

Full Text Available Background: Sporadic inclusion body myositis is an autoimmune and degenerative disorder of skeletal muscle that affects people at random. It most commonly begins as progressive weakness and atrophy of lower extremity musculature, beginning with the proximal leg. These impairments in body structure adversely affect the performance of functional activities and mobility, resulting in a progressive decrease in independence and participation both at home and in the community. Physical therapy attempts to minimize these effects through educational and procedural interventions focused on treating impairments and limitations. The purpose of this case study was to provide a description of the physical therapy management of a patient diagnosed with sporadic inclusion body myositis. Case Summary: The patient was a 66-year-old male who was diagnosed with sporadic inclusion body myositis with a chief complaint of weakness and fall risk. He presented with generalized lower extremity weakness and atrophy of bilateral quadriceps, as well as impaired balance and increasing fatigue with activity. Therapeutic exercise, home exercise program, balance, gait, and stair training were delivered to address these impairments. Patient outcomes showed improvement in balance and safety with functional activities. Discussion: The patient was seen for seven visits that were 45 – 60 minutes in length, over a five-week period. The patient made subjective reports of improvement in functional activities and balance; however many objective outcome measures could not be reassessed. There is a need for further research on this population to determine the effectiveness and parameters of physical therapy interventions. Conclusion: Physical therapy may have helped improve balance as well as subjective reports from the patient of increased feeling of confidence while navigating stairs.

Sporadic inclusion body myositis: the genetic contributions to the pathogenesis

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2014-01-01

Sporadic inclusion body myositis (sIBM) is the commonest idiopathic inflammatory muscle disease in people over 50 years old. It is characterized by slowly progressive muscle weakness and atrophy, with typical pathological changes of inflammation, degeneration and mitochondrial abnormality in affected muscle fibres. The cause(s) of sIBM are still unknown, but are considered complex, with the contribution of multiple factors such as environmental triggers, ageing and genetic susceptibility. This review summarizes the current understanding of the genetic contributions to sIBM and provides some insights for future research in this mysterious disease with the advantage of the rapid development of advanced genetic technology. An international sIBM genetic study is ongoing and whole-exome sequencing will be applied in a large cohort of sIBM patients with the aim of unravelling important genetic risk factors for sIBM. PMID:24948216

Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.

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Balendra, Rubika; Uphill, James; Collinson, Claire; Druyeh, Ronald; Adamson, Gary; Hummerich, Holger; Zerr, Inga; Gambetti, Pierluigi; Collinge, John; Mead, Simon

2016-04-07

Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent association study identified variants in or near to the PLCXD3 gene locus as strong disease risk factors in multiple human prion diseases. This study claimed the first non-PRNP locus to be highly significantly associated with prion disease in genomic studies. A sub-study of a genome-wide association study with imputation aiming to replicate the finding at PLCXD3 including 129 vCJD and 2500 sCJD samples. Whole exome sequencing to identify rare coding variants of PLCXD3. Imputation of relevant polymorphisms was accurate based on wet genotyping of a sample. We found no supportive evidence that PLCXD3 variants are associated with disease. The marked discordance in vCJD genotype frequencies between studies, despite extensive overlap in vCJD cases, and the finding of Hardy-Weinberg disequilibrium in the original study, suggests possible reasons for the discrepancies between studies.

MicroRNA (miRNA Signaling in the Human CNS in Sporadic Alzheimer’s Disease (AD-Novel and Unique Pathological Features

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Yuhai Zhao

2015-12-01

Full Text Available Of the approximately ~2.65 × 103 mature microRNAs (miRNAs so far identified in Homo sapiens, only a surprisingly small but select subset—about 35–40—are highly abundant in the human central nervous system (CNS. This fact alone underscores the extremely high selection pressure for the human CNS to utilize only specific ribonucleotide sequences contained within these single-stranded non-coding RNAs (ncRNAs for productive miRNA–mRNA interactions and the down-regulation of gene expression. In this article we will: (i consolidate some of our still evolving ideas concerning the role of miRNAs in the CNS in normal aging and in health, and in sporadic Alzheimer’s disease (AD and related forms of chronic neurodegeneration; and (ii highlight certain aspects of the most current work in this research field, with particular emphasis on the findings from our lab of a small pathogenic family of six inducible, pro-inflammatory, NF-κB-regulated miRNAs including miRNA-7, miRNA-9, miRNA-34a, miRNA-125b, miRNA-146a and miRNA-155. This group of six CNS-abundant miRNAs significantly up-regulated in sporadic AD are emerging as what appear to be key mechanistic contributors to the sporadic AD process and can explain much of the neuropathology of this common, age-related inflammatory neurodegeneration of the human CNS.

MicroRNA (miRNA) Signaling in the Human CNS in Sporadic Alzheimer’s Disease (AD)-Novel and Unique Pathological Features

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Zhao, Yuhai; Pogue, Aileen I.; Lukiw, Walter J.

2015-01-01

Of the approximately ~2.65 × 103 mature microRNAs (miRNAs) so far identified in Homo sapiens, only a surprisingly small but select subset—about 35–40—are highly abundant in the human central nervous system (CNS). This fact alone underscores the extremely high selection pressure for the human CNS to utilize only specific ribonucleotide sequences contained within these single-stranded non-coding RNAs (ncRNAs) for productive miRNA–mRNA interactions and the down-regulation of gene expression. In this article we will: (i) consolidate some of our still evolving ideas concerning the role of miRNAs in the CNS in normal aging and in health, and in sporadic Alzheimer’s disease (AD) and related forms of chronic neurodegeneration; and (ii) highlight certain aspects of the most current work in this research field, with particular emphasis on the findings from our lab of a small pathogenic family of six inducible, pro-inflammatory, NF-κB-regulated miRNAs including miRNA-7, miRNA-9, miRNA-34a, miRNA-125b, miRNA-146a and miRNA-155. This group of six CNS-abundant miRNAs significantly up-regulated in sporadic AD are emerging as what appear to be key mechanistic contributors to the sporadic AD process and can explain much of the neuropathology of this common, age-related inflammatory neurodegeneration of the human CNS. PMID:26694372

Female Choice Undermines the Emergence of Strong Sexual Isolation between Locally Adapted Populations of Atlantic Mollies (Poecilia mexicana

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Claudia Zimmer

2018-05-01

Full Text Available Divergent selection between ecologically dissimilar habitats promotes local adaptation, which can lead to reproductive isolation (RI. Populations in the Poecilia mexicana species complex have independently adapted to toxic hydrogen sulfide and show varying degrees of RI. Here, we examined the variation in the mate choice component of prezygotic RI. Mate choice tests across drainages (with stimulus males from another drainage suggest that specific features of the males coupled with a general female preference for yellow color patterns explain the observed variation. Analyses of male body coloration identified the intensity of yellow fin coloration as a strong candidate to explain this pattern, and common-garden rearing suggested heritable population differences. Male sexual ornamentation apparently evolved differently across sulfide-adapted populations, for example because of differences in natural counterselection via predation. The ubiquitous preference for yellow color ornaments in poeciliid females likely undermines the emergence of strong RI, as female discrimination in favor of own males becomes weaker when yellow fin coloration in the respective sulfide ecotype increases. Our study illustrates the complexity of the (partly non-parallel pathways to divergence among replicated ecological gradients. We suggest that future work should identify the genomic loci involved in the pattern reported here, making use of the increasing genomic and transcriptomic datasets available for our study system.

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

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Wong Nora

2006-01-01

Full Text Available Abstract Background Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor suppressors. Succinate dehydrogenase is a heterotetrameric protein complex and a component of both the Krebs cycle and the mitochondrial respiratory chain (succinate:ubiquinone oxidoreductase or complex II. Methods Using conformation sensitive gel electrophoresis (CSGE and direct DNA sequencing to analyse genomic DNA from peripheral blood lymphocytes, here we describe the mutation analysis of the SDHB and SDHC genes in 37 patients with sporadic (i.e. no known family history head and neck paraganglioma and five pheochromocytoma and/or paraganglioma families. Results Two sporadic patients were found to have a SDHB splice site mutation in intron 4, c.423+1G>A, which produces a mis-spliced transcript with a 54 nucleotide deletion, resulting in an 18 amino acid in-frame deletion. A third patient was found to carry the c.214C>T (p.Arg72Cys missense mutation in exon 4 of SDHC, which is situated in a highly conserved protein motif that constitutes the quinone-binding site of the succinate: ubiquinone oxidoreductase (SQR complex in E. coli. Together with our previous results, we found 27 germline mutations of SDH genes in 95 cases (28% of sporadic head and neck paraganglioma. In addition all index patients of five families showing hereditary pheochromocytoma-paraganglioma were found to carry germline mutations of SDHB: four of which were novel, c.343C>T (p.Arg115X, c.141G>A (p.Trp47X, c.281G>A (p.Arg94Lys, and c.653G>C (p.Trp218Ser, and one reported previously, c.136C>T, p.Arg46X. Conclusion In conclusion, these data indicate that germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma and further underline the importance of germline SDHB mutations in cases of

Thyroid Sporadic Goiter with Adult Heterotopic Bone Formation

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Adriana Handra-Luca

2015-01-01

Full Text Available Thyroid heterotopic bone formation (HBF in goiter is a rare finding. Five thyroid resection specimens were analyzed for HBF. The results were correlated with clinicomorphological features. All patients were women (33–82 years. The preoperative diagnosis was thyroid goiter or nodule. Treatment consisted in thyroidectomy and lobectomy (3 and 2, resp.. Microscopy showed sporadic nodular goiter. Malformative blood vessels and vascular calcifications were seen in intra- and extrathyroid location (5 and 3, resp.. The number and size of HBFs (total: 28 ranged between 1 and 23/thyroid gland (one bilateral and 1 and 10 mm, respectively. Twelve HBFs were in contact with the thyroid capsule. Most were extranodular (21, versus 6 intranodular. The medical history was positive for dyslipidemia, hyperglycemia, renal dysfunction, and hyperuricemia (2, 3, and 3 cases and 1 case, resp. without any parathyroid abnormality. In conclusion, thyroid HBF may be characterized by subcapsular or extranodular location, various size (usually ≥2 mm, and vascular calcifications and malformations. Features of metabolic syndrome and renal dysfunction may be present, but their exact role in the pathogenesis of HBFs remains to be elucidated.

Amorphization-induced strong localization of electronic states in CsPbBr3 and CsPbCl3 studied by optical absorption measurements

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Kondo, S.; Sakai, T.; Tanaka, H.; Saito, T.

1998-11-01

Optical absorption spectra of amorphous CsPbX3 films (X=Br,Cl) are characterized by two Gaussian bands near the fundamental edge, with the optical energy gap largely blueshifted and the absorption intensity strongly reduced as compared with the crystalline films. The peak energies of the bands are close to those of the A and C bands of Pb-doped alkali halides. The spectral features are discussed in terms of a molecular orbital theory based on a quasicomplex Pb2+(X-)6 model similar to the complex model for the doped alkali halides. It is shown that not only Pb2+ 6s and 6p extended states near the band edges but also X- p states contributing to upper valence bands are localized by amorphization. The transitions from the localized Pb2+ 6s to 6p states produce the spin-orbit allowed 3P1 and dipole allowed 1P1 states responsible for the two Gaussians. The localized X- p states lie deeper in energy than the localized Pb2+ 6s state and only contribute to higher-energy absorption above the Gaussian bands, giving the reason for the reduced absorption near the fundamental edge. The blueshift of the optical energy gap is attributed to the disappearance of k dispersions for these one-electron states.

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

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Chiò, Adriano; Schymick, Jennifer C; Restagno, Gabriella; Scholz, Sonja W; Lombardo, Federica; Lai, Shiao-Lin; Mora, Gabriele; Fung, Hon-Chung; Britton, Angela; Arepalli, Sampath; Gibbs, J Raphael; Nalls, Michael; Berger, Stephen; Kwee, Lydia Coulter; Oddone, Eugene Z; Ding, Jinhui; Crews, Cynthia; Rafferty, Ian; Washecka, Nicole; Hernandez, Dena; Ferrucci, Luigi; Bandinelli, Stefania; Guralnik, Jack; Macciardi, Fabio; Torri, Federica; Lupoli, Sara; Chanock, Stephen J; Thomas, Gilles; Hunter, David J; Gieger, Christian; Wichmann, H Erich; Calvo, Andrea; Mutani, Roberto; Battistini, Stefania; Giannini, Fabio; Caponnetto, Claudia; Mancardi, Giovanni Luigi; La Bella, Vincenzo; Valentino, Francesca; Monsurrò, Maria Rosaria; Tedeschi, Gioacchino; Marinou, Kalliopi; Sabatelli, Mario; Conte, Amelia; Mandrioli, Jessica; Sola, Patrizia; Salvi, Fabrizio; Bartolomei, Ilaria; Siciliano, Gabriele; Carlesi, Cecilia; Orrell, Richard W; Talbot, Kevin; Simmons, Zachary; Connor, James; Pioro, Erik P; Dunkley, Travis; Stephan, Dietrich A; Kasperaviciute, Dalia; Fisher, Elizabeth M; Jabonka, Sibylle; Sendtner, Michael; Beck, Marcus; Bruijn, Lucie; Rothstein, Jeffrey; Schmidt, Silke; Singleton, Andrew; Hardy, John; Traynor, Bryan J

2009-04-15

The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility to motor neuron degeneration. To identify genetic variants altering risk of ALS, we undertook a two-stage genome-wide association study (GWAS): we followed our initial GWAS of 545 066 SNPs in 553 individuals with ALS and 2338 controls by testing the 7600 most associated SNPs from the first stage in three independent cohorts consisting of 2160 cases and 3008 controls. None of the SNPs selected for replication exceeded the Bonferroni threshold for significance. The two most significantly associated SNPs, rs2708909 and rs2708851 [odds ratio (OR) = 1.17 and 1.18, and P-values = 6.98 x 10(-7) and 1.16 x 10(-6)], were located on chromosome 7p13.3 within a 175 kb linkage disequilibrium block containing the SUNC1, HUS1 and C7orf57 genes. These associations did not achieve genome-wide significance in the original cohort and failed to replicate in an additional independent cohort of 989 US cases and 327 controls (OR = 1.18 and 1.19, P-values = 0.08 and 0.06, respectively). Thus, we chose to cautiously interpret our data as hypothesis-generating requiring additional confirmation, especially as all previously reported loci for ALS have failed to replicate successfully. Indeed, the three loci (FGGY, ITPR2 and DPP6) identified in previous GWAS of sporadic ALS were not significantly associated with disease in our study. Our findings suggest that ALS is more genetically and clinically heterogeneous than previously recognized. Genotype data from our study have been made available online to facilitate such future endeavors.

Somatic Mosaicism Underlies X-linked Acrogigantism (XLAG) Syndrome in Sporadic Male Subjects

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Daly, Adrian F.; Yuan, Bo; Fina, Frederic; Caberg, Jean-Hubert; Trivellin, Giampaolo; Rostomyan, Liliya; de Herder, Wouter W.; Naves, Luciana A.; Metzger, Daniel; Cuny, Thomas; Rabl, Wolfgang; Shah, Nalini; Jaffrain-Rea, Marie-Lise; Zatelli, Maria Chiara; Faucz, Fabio R; Castermans, Emilie; Nanni-Metellus, Isabelle; Lodish, Maya; Muhammad, Ammar; Palmeira, Leonor; Potorac, Iulia; Mantovani, Giovanna; Neggers, Sebastian J.; Klein, Marc; Barlier, Anne; Liu, Pengfei; Ouafik, L'Houcine; Bours, Vincent; Lupski, James R.; Stratakis, Constantine A.; Beckers., Albert

2016-01-01

Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101. We studied XLAG syndrome patients (N=18) to determine if somatic mosaicism contributed to the genomic pathophysiology. Eighteen subjects with XLAG syndrome were identified with Xq26.3 duplications using high definition array comparative genome hybridization (HD-aCGH). We noted males with XLAG had a decreased log2 ratio compared with expected values, suggesting potential mosaicism, while females showed no such decrease. As compared with familial male XLAG cases, sporadic males had more marked evidence for mosaicism, with levels of Xq26.3 duplication between 16.1-53.8%. These characteristics were replicated using a novel, personalized breakpoint-junction specific quantification droplet digital PCR (ddPCR) technique. Using a separate ddPCR technique we studied the feasibility of identifying XLAG syndrome cases in a distinct patient population of 64 unrelated subjects with acromegaly/gigantism and identified one female gigantism patient that had increased copy number variation (CNV) threshold for GPR101 that was subsequently diagnosed as having XLAG syndrome on HD-aCGH. Employing a combination of HD-aCGH and novel ddPCR approaches, we have demonstrated, for the first time, that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at chromosome Xq26.3. Somatic mosaicism was shown to occur in sporadic males but not in females with XLAG syndrome, although the clinical characteristics of the disease were similarly severe in both sexes. PMID:26935837

Glycoform-Selective Prion Formation in Sporadic and Familial Forms of Prion Disease

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Xiao, Xiangzhu; Yuan, Jue; Haïk, Stéphane; Cali, Ignazio; Zhan, Yian; Moudjou, Mohammed; Li, Baiya; Laplanche, Jean-Louis; Laude, Hubert; Langeveld, Jan; Gambetti, Pierluigi; Kitamoto, Tetsuyuki; Kong, Qingzhong; Brandel, Jean-Philippe; Cobb, Brian A.; Petersen, Robert B.; Zou, Wen-Quan

2013-01-01

The four glycoforms of the cellular prion protein (PrPC) variably glycosylated at the two N-linked glycosylation sites are converted into their pathological forms (PrPSc) in most cases of sporadic prion diseases. However, a prominent molecular characteristic of PrPSc in the recently identified variably protease-sensitive prionopathy (VPSPr) is the absence of a diglycosylated form, also notable in familial Creutzfeldt-Jakob disease (fCJD), which is linked to mutations in PrP either from Val to Ile at residue 180 (fCJDV180I) or from Thr to Ala at residue 183 (fCJDT183A). Here we report that fCJDV180I, but not fCJDT183A, exhibits a proteinase K (PK)-resistant PrP (PrPres) that is markedly similar to that observed in VPSPr, which exhibits a five-step ladder-like electrophoretic profile, a molecular hallmark of VPSPr. Remarkably, the absence of the diglycosylated PrPres species in both fCJDV180I and VPSPr is likewise attributable to the absence of PrPres glycosylated at the first N-linked glycosylation site at residue 181, as in fCJDT183A. In contrast to fCJDT183A, both VPSPr and fCJDV180I exhibit glycosylation at residue 181 on di- and monoglycosylated (mono181) PrP prior to PK-treatment. Furthermore, PrPV180I with a typical glycoform profile from cultured cells generates detectable PrPres that also contains the diglycosylated PrP in addition to mono- and unglycosylated forms upon PK-treatment. Taken together, our current in vivo and in vitro studies indicate that sporadic VPSPr and familial CJDV180I share a unique glycoform-selective prion formation pathway in which the conversion of diglycosylated and mono181 PrPC to PrPSc is inhibited, probably by a dominant-negative effect, or by other co-factors. PMID:23527023

Morphea-like localized involutional lipoatrophy—a case report associated with family history

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Cheng-Huang Chang

2010-09-01

Full Text Available Localized involutional lipoatrophy is a rare, sporadic disease with female tendency and characterized by focal loss of adipose tissue. We report two sisters, aged 8 years and 6 years, who developed asymptomatic depressive areas on the upper left arm and upper right arm, respectively. Cutaneous sonography showed slight thickening of the dermis and remarkably decreased thickness of the cutaneous fat tissue. Histopathology of a biopsy specimen from the elder sister revealed an increase in homogenized collagen bundles and entrapment of eccrine glands high in the dermis, as well as small to medium-sized lipocytes with a scarcity of inflammatory cells.

Long-term preclinical magnetic resonance imaging alterations in sporadic Creutzfeldt-Jakob disease.

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Zanusso, Gianluigi; Camporese, Giulia; Ferrari, Sergio; Santelli, Luca; Bongianni, Matilde; Fiorini, Michele; Monaco, Salvatore; Manara, Renzo; Cagnin, Annachiara

2016-10-01

An asymptomatic 74-year-old woman, on follow-up for a carotid body tumor, showed magnetic resonance imaging (MRI) focal restricted diffusion confined to the left temporal and occipital cortices. Thirteen months later, diffusion-weighted images revealed a bilateral cortical ribbon sign involving all lobes. After 1 month, the patient developed gait instability and cognitive decline rapidly evolving to severe dementia and death within 3 months. Prion protein gene sequence, molecular, and neuropathological studies confirmed the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) MM1 subtype. Here we show the kinetics of MRI changes and prion spreading in preclinical sCJD MM1. Ann Neurol 2016;80:629-632. © 2016 American Neurological Association.

Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients.

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Vrabec, Katarina; Boštjančič, Emanuela; Koritnik, Blaž; Leonardis, Lea; Dolenc Grošelj, Leja; Zidar, Janez; Rogelj, Boris; Glavač, Damjan; Ravnik-Glavač, Metka

2018-01-01

Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects. We aimed to evaluate the differential expression of 10 miRNAs, including miR-9, miR-338, miR-638, miR-663a, miR-124a, miR-143, miR-451a, miR-132, miR-206, and let-7b, for which some connection to ALS was shown previously in ALS culture cells, animal models or patients, and in three miRNA host genes, including C1orf61 (miR-9), AATK (miR-338), and DNM2 (miR-638), in leukocyte samples of 84 patients with sporadic ALS. We observed significant aberrant dysregulation across our patient cohort for miR-124a, miR-206, miR-9, let-7b, and miR-638. Since we did not use neurological controls we cannot rule out that the revealed differences in expression of investigated miRNAs are specific for ALS. Nevertheless, the group of these five miRNAs is worth of additional research in leukocytes of larger cohorts from different populations in order to verify their potential association to ALS disease. We also detected a significant up-regulation of the AAKT gene and down-regulation of the DNM2 gene, and thus, for the first time, we connected these with sporadic ALS cases. These findings open up new research toward miRNAs as diagnostic biomarkers and epigenetic processes involved in ALS. The detected significant deregulation of AAKT and DNM2 in sporadic ALS also represents an interesting finding. The DNM2 gene was previously found to be mutated in Charcot-Marie-Tooth neuropathy-type CMT2M and centronuclear myopathy (CNM). In addition, as recent studies connected AATK and frontotemporal dementia (FTD) and DNM2 and hereditary spastic paraplegia (HSP), these two genes together with our results genetically connect, at least in part, five diseases, including FTD, HSP, Charcot-Marie-Tooth (type CMT2M), CNM, and ALS

Magnetic properties of strongly asymmetric nuclear matter

International Nuclear Information System (INIS)

Kutschera, M.; Wojcik, W.

1988-01-01

We investigate stability of neutron matter containing a small proton admixture with respect to spin fluctuations. We establish conditions under which strongly asymmetric nuclear matter could acquire a permanent magnetization. It is shown that if the protons are localized, the system becomes unstable to spin fluctuations for arbitrarily weak proton-neutron spin interactions. For non-localized protons there exists a threshold value of the spin interaction above which the system can develop a spontaneous polarization. 12 refs., 2 figs. (author)

Studies of sporadic E (Es) associated with the main ionospheric trough

International Nuclear Information System (INIS)

Rodger, A.S.; Morrell, C.; Dudeney, J.R.

1983-01-01

Sporadic E, or E(s) events under the main F region trough have been confirmed on the basis of ionograms from a vertical incidence ionosonde at Halley Bay, Antarctica. Analyses indicate that E(s) is frequently observable under both the equatorward and the poleward edges of the trough, as well as poleward of it. Before magnetic midnight, E(s) layers whose semithickness resembles those of the normal E layer are common, in contrast to layers seen after magnetic midnight which show the characteristics of thin E(s) layers. A possible explanation of the observed change in the E(s) layer characteristics at magnetic midnight is related to differences in the type and spectra of the precipitating particles. It is shown that the redistribution of ionization by the convection electric field may be important. 40 references

Familial prostate cancer has a more aggressive course than sporadic prostate cancer after treatment for localized disease, mainly due to a higher rate of distant metastases

International Nuclear Information System (INIS)

Kupelian, Patrick A.; Klein, Eric A.; Suh, John H; Kupelian, Varant A.

1997-01-01

Purpose: We had already established that familial prostate cancer, defined as prostate cancer diagnosed in a father or brother, was an independent predictor of biochemical failure after treatment for localized disease. Our aim was to determine whether differences in outcome could be observed with respect to clinical failures (either local or distant) between the two forms of prostate cancer. Methods: Of the 1685 consecutive cases with localized prostate carcinoma treated between 1986 and 1996, patients with the following were excluded from the present study: no pretreatment Prostatic Specific Antigen (iPSA) level (n=54), no biopsy Gleason score (bGS) (n=25), adjuvant or neoadjuvant treatment (n=234), no available follow-up PSA level (n=30). We also excluded 617 patients who did not have a minimum of 3 years potential follow-up. The analysis was performed on 725 cases. Radiotherapy (RT) was the primary treatment in 330 patients and radical prostatectomy (RP) in 395 patients. Five percent had clinical stage T3 disease (n=37). Positive family history was defined as the presence of prostate cancer in a first degree relative (father or brother). The outcomes of interest were biochemical relapse-free survival (bRFS), clinical relapse-free survival (cRFS), local relapse-free survival (locRFS), distant relapse-free survival (dRFS). We used proportional hazards to analyze the effect of family history and other potential confounding variables (i.e. age, race, treatment modality, stage, biopsy GS, and iPSA levels) on treatment outcome. We included pathologic findings (extracapsular extension, seminal vesicle involvement, surgical margin involvement, and lymph node metastases) in a separate analysis for RP patients. Results: The median follow-up was 45 months. Eight percent of all cases (n=57) had a positive family history. The 5-year bRFS rates for patients with negative and positive family history were 54% and 38%, respectively (p<0.001). The 5-year cRFS rates for patients

The Prognostic Impact of p53 Expression on Sporadic Colorectal Cancer Is Dependent on p21 Status

International Nuclear Information System (INIS)

Kruschewski, Martin; Mueller, Kathrin; Lipka, Sybille; Budczies, Jan; Noske, Aurelia; Buhr, Heinz Johannes; Elezkurtaj, Sefer

2011-01-01

The prognostic value of p53 and p21 expression in colorectal cancer is still under debate. We hypothesize that the prognostic impact of p53 expression is dependent on p21 status. The expression of p53 and p21 was immunohistochemically investigated in a prospective cohort of 116 patients with UICC stage II and III sporadic colorectal cancer. The results were correlated with overall and recurrence-free survival. The mean observation period was 51.8 ± 2.5 months. Expression of p53 was observed in 72 tumors (63%). Overall survival was significantly better in patients with p53-positive carcinomas than in those without p53 expression (p = 0.048). No differences were found in recurrence-free survival (p = 0.161). The p53+/p21− combination was seen in 68% (n = 49), the p53+/p21+ combination in 32% (n = 23). Patients with p53+/p21− carcinomas had significantly better overall and recurrence-free survival than those with p53+/p21+ (p < 0.0001 resp. p = 0.003). Our data suggest that the prognostic impact of p53 expression on sporadic colorectal cancer is dependent on p21 status

Caviton dynamics in strong Langmuir turbulence

International Nuclear Information System (INIS)

DuBois, D.; Rose, H.A.; Russell, D.

1989-01-01

Recent studies based on long time computer simulations of Langmuir turbulence as described by Zakharov's model will be reviewed. These show that for strong to moderate ion sound samping the turbulent energy is dominantly in nonlinear ''caviton'' excitations which are localized in space and time. A local caviton model will be presented which accounts for the nucleation-collapse-burnout cycles of individual cavitons as well as their space-time correlations. This model is in detailed agreement with many features of the electron density fluctuation spectra in the ionosphere modified by powerful hf waves as measured by incoherent scatter radar. Recently such observations have verified a prediction of the theory that ''free'' Langmuir waves are emitted in the caviton collapse process. These observations and theoretical considerations also strongly imply that cavitons in the heated ionosphere, under certain conditions, evolve to states in which they are ordered in space and time. The sensitivity of the high frequency Langmuir field dynamics to the low frequency ion density fluctuations and the related caviton nucleation process will be discussed. 40 refs., 19 figs

Caviton dynamics in strong Langmuir turbulence

Science.gov (United States)

DuBois, Don; Rose, Harvey A.; Russell, David

1990-01-01

Recent studies based on long time computer simulations of Langmuir turbulence as described by Zakharov's model will be reviewed. These show that for strong to moderate ion sound damping the turbulent energy is dominantly in non-linear "caviton" excitations which are localized in space and time. A local caviton model will be presented which accounts for the nucleation-collapse-burnout cycles of individual cavitons as well as their space-time correlations. This model is in detailed agreement with many features of the electron density fluctuation spectra in the ionosphere modified by powerful HF waves as measured by incoherent scatter radar. Recently such observations have verified a prediction of the theory that "free" Langmuir waves are emitted in the caviton collapse process. These observations and theoretical considerations also strongly imply that cavitons in the heated ionosphere, under certain conditions, evolve to states in which they are ordered in space and time. The sensitivity of the high frequency Langmuir field dynamics to the low frequency ion density fluctuations and the related caviton nucleation process will be discussed.

Caviton dynamics in strong Langmuir turbulence

International Nuclear Information System (INIS)

DuBois, D.; Rose, H.A.; Russell, D.

1990-01-01

Recent studies based on long time computer simulations of Langmuir turbulence as described by Zakharov's model will be reviewed. These show that for strong to moderate ion sound damping the turbulent energy is dominantly in non-linear ''caviton'' excitations which are localized in space and time. A local caviton model will be presented which accounts for the nucleation-collapse-burnout cycles of individual cavitons as well as their space-time correlations. This model is in detailed agreement with many features of the electron density fluctuation spectra in the ionosphere modified by powerful HF waves as measured by incoherent scatter radar. Recently such observations have verified a prediction of the theory that ''free'' Langmuir waves are emitted in the caviton collapse process. These observations and theoretical considerations also strongly imply that cavitons in the heated ionosphere, under certain conditions, evolve to states in which they are ordered in space and time. The sensitivity of the high frequency Langmuir field dynamics to the low frequency ion density fluctuations and the related caviton nucleation process will be discussed. (orig.)

Uncovering the Rare Variants of DLC1 Isoform 1 and Their Functional Effects in a Chinese Sporadic Congenital Heart Disease Cohort

Science.gov (United States)

Wang, Zhen; Tan, Huilian; Kong, Xianghua; Shu, Yang; Zhang, Yuchao; Huang, Yun; Zhu, Yufei; Xu, Heng; Wang, Zhiqiang; Wang, Ping; Ning, Guang; Kong, Xiangyin; Hu, Guohong; Hu, Landian

2014-01-01

Congenital heart disease (CHD) is the most common birth defect affecting the structure and function of fetal hearts. Despite decades of extensive studies, the genetic mechanism of sporadic CHD remains obscure. Deleted in liver cancer 1 (DLC1) gene, encoding a GTPase-activating protein, is highly expressed in heart and essential for heart development according to the knowledge of Dlc1-deficient mice. To determine whether DLC1 is a susceptibility gene for sporadic CHD, we sequenced the coding region of DLC1 isoform 1 in 151 sporadic CHD patients and identified 13 non-synonymous rare variants (including 6 private variants) in the case cohort. Importantly, these rare variants (8/13) were enriched in the N-terminal region of the DLC1 isoform 1 protein. Seven of eight amino acids at the N-terminal variant positions were conserved among the primates. Among the 9 rare variants that were predicted as “damaging”, five were located at the N-terminal region. Ensuing in vitro functional assays showed that three private variants (Met360Lys, Glu418Lys and Asp554Val) impaired the ability of DLC1 to inhibit cell migration or altered the subcellular location of the protein compared to wild-type DLC1 isoform 1. These data suggest that DLC1 might act as a CHD-associated gene in addition to its role as a tumor suppressor in cancer. PMID:24587289

Light localization in cold and dense atomic ensemble

International Nuclear Information System (INIS)

Sokolov, Igor

2017-01-01

We report on results of theoretical analysis of possibilities of light strong (Anderson) localization in a cold atomic ensemble. We predict appearance of localization in dense atomic systems in strong magnetic field. We prove that in absence of the field the light localization is impossible. (paper)

Mars Methane at Gale Crater Shows Strong Seasonal Cycle: Updated Results from TLS-SAM on Curiosity

Science.gov (United States)

Webster, C. R.; Mahaffy, P. R.; Atreya, S. K.; Flesch, G.; Malespin, C.; McKay, C.; Martinez, G.; Moores, J.; Smith, C. L.; Martin-Torres, F. J.; Gomez-Elvira, J.; Zorzano, M. P.; Wong, M. H.; Trainer, M. G.; Eigenbrode, J. L.; Glavin, D. P.; Steele, A.; Archer, D., Jr.; Sutter, B.; Coll, P. J.; Freissinet, C.; Meslin, P. Y.; Pavlov, A.; Keymeulen, D.; Christensen, L. E.; Gough, R. V.; Schwenzer, S. P.; Navarro-Gonzalez, R.; Pla-García, J.; Rafkin, S. C.; Vicente-Retortillo, Á.; Kahanpää, H.; Viudez-Moreiras, D.; Smith, M. D.; Harri, A. M.; Genzer, M.; Hassler, D.; Lemmon, M. T.; Crisp, J. A.; Zurek, R. W.; Vasavada, A. R.

2017-12-01

In situ measurements of atmospheric methane have been made over a 5-year period at Gale Crater on Mars using the Tunable Laser Spectrometer (TLS) instrument in the Sample Analysis at Mars (SAM) suite on the Curiosity rover. We report two important observations: (i) a background level of mean value of 0.41 ±0.11 (2sem) that is about 5 times lower than some model predictions based on generation from UV degradation of micro-meteorites or interplanetary dust delivered to the martian surface; (ii) "spikes" of elevated levels of 7 ppbv attributed to episodic releases from small local sources, probably to the north of Gale crater1. Reports of plumes, patches or episodic releases of methane in the Martian atmosphere have to date eluded explanation in part because of their lack of repeatability in time or location. Our in situ measurements of the background methane levels exhibit a strong, repeatable seasonal variability. The amplitude of the observed seasonal cycle is 3 times greater than both that expected from the annual sublimation and freezing of polar carbon dioxide and that expected from methane production from ultraviolet (UV) degradation of exogenously-delivered surface material. The observed large seasonal variation in the background, and sporadic observations of higher pulses of 7 ppbv appear consistent with localized small sources of methane release from Martian surface reservoirs that may be occurring throughout the planet. We will present our updated data set, correlations of Mars methane with various other measurements from SAM, REMS, RAD and ChemCam instruments on Curiosity, as well as empirical models of UV surface insolation, and provide preliminary interpretation of results. 1 "Mars Methane Detection and Variability at Gale Crater", C. R. Webster et al., Science, 347, 415-417 (2015) and references therein. The research described here was carried out in part at the Jet Propulsion Laboratory, California Institute of Technology, under a contract with the

Sporadic Creutzfeldt-Jakob disease in a native Puerto Rican patient.

Science.gov (United States)

Del Pilar-Morales, Esteban A; Cali, Ignazio; Chapas, Javier; Bertrán-Pasarell, Jorge; Puoti, Gianfranco; Gambetti, Pierluigi; Nobo, Ulises

2015-03-01

The diagnosis of Creutzfeldt-Jakob disease (CJD) is often a challenge for most physicians given its extremely low incidence and different clinico-pathological presentations. We report the case of a 56-year old patient native to Puerto Rico suspected of sporadic Creutzfeldt-Jakob disease (sCD). The symptoms at onset were notorious for bilateral cortical blindness followed by rapidly progressive cognitive decline, visual deficit, increased levels of CSF 14-3-3 and tau along with positive brain MRI and EEG, are highly indicative of CJD. The definite diagnosis was confirmed by the National Prion Disease Pathology Surveillance Center (NPDPSC), in Cleveland, Ohio, USA. Lack of genetic mutations in the prion protein (PrP) gene, widespread histopathological changes and the accumulation of scrapie PrP (PrPSc) in the brain confirmed the diagnosis of sCJD. The patient, admitted to our institution in 2011, represents the first detailed report of sCJD in a native Puerto Rican patient living in Puerto Rico.

MRI manifestation for the diagnosis of sporadic Creutzfeldt-Jakob disease

International Nuclear Information System (INIS)

Xue Yonggang; Qi Ji; Xia Shuang

2007-01-01

Objective: To study the MRI features of sporadic Creutzfeldt-Jakob disease (sCJD). Methods: Three patients with clinically diagnosed sCJD underwent MR study, including SE T 1 WI, FSE T 2 WI, and DWI sequences. The MR imaging features were analyzed. Results: The lesions were not definite either in SE T 1 WI or in FSE T 2 WI, but were prominent in DWI. Abnormal hyperintensive signal appeared in the cerebral cortex, with the frontal, parietal, and occipital lobes being the mostly involved region. The subcortical white matter was normal. The bilateral caudate nuclei and thalami could also be involved. The abnormal signal could be either symmetrical or asymmetrical. There was diffuse atrophy of the brain parenchyma in the late phase of disease, especially in the cortex. Conclusion: With the application of MR study, especially the DWI, combined with its characteristic clinical manifestation, the diagnosis of sCJD can be made definitely. (authors)

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

Science.gov (United States)

Mošna, Z.; Koucká Knížová, P.

2012-12-01

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

Extension of lattice cluster theory to strongly interacting, self-assembling polymeric systems.

Science.gov (United States)

Freed, Karl F

2009-02-14

A new extension of the lattice cluster theory is developed to describe the influence of monomer structure and local correlations on the free energy of strongly interacting and self-assembling polymer systems. This extension combines a systematic high dimension (1/d) and high temperature expansion (that is appropriate for weakly interacting systems) with a direct treatment of strong interactions. The general theory is illustrated for a binary polymer blend whose two components contain "sticky" donor and acceptor groups, respectively. The free energy is determined as an explicit function of the donor-acceptor contact probabilities that depend, in turn, on the local structure and both the strong and weak interactions.

Possible test of the strong principle of equivalence

International Nuclear Information System (INIS)

Brecher, K.

1978-01-01

We suggest that redshift determinations of X-ray and γ-ray lines produced near the surface of neutron stars which arise from different physical processes could provide a significant test of the strong principle of equivalence for strong gravitational fields. As a complement to both the high-precision weak-field solar-system experiments and the cosmological time variation searches, such observations could further test the hypothesis that physics is locally the same at all times and in all places

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

DEFF Research Database (Denmark)

Bahl, Justyna Maria Czarna; Heegaard, Niels Henrik Helweg; Falkenhorst, Gerhard

2009-01-01

) 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......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...

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Science.gov (United States)

Lanoiselée, Hélène-Marie; Nicolas, Gaël; Wallon, David; Rovelet-Lecrux, Anne; Lacour, Morgane; Rousseau, Stéphane; Richard, Anne-Claire; Pasquier, Florence; Rollin-Sillaire, Adeline; Martinaud, Olivier; Quillard-Muraine, Muriel; de la Sayette, Vincent; Boutoleau-Bretonniere, Claire; Etcharry-Bouyx, Frédérique; Chauviré, Valérie; Sarazin, Marie; le Ber, Isabelle; Epelbaum, Stéphane; Jonveaux, Thérèse; Rouaud, Olivier; Ceccaldi, Mathieu; Félician, Olivier; Godefroy, Olivier; Formaglio, Maite; Croisile, Bernard; Auriacombe, Sophie; Chamard, Ludivine; Vincent, Jean-Louis; Sauvée, Mathilde; Marelli-Tosi, Cecilia; Gabelle, Audrey; Ozsancak, Canan; Pariente, Jérémie; Paquet, Claire; Hannequin, Didier; Campion, Dominique

2017-03-01

Amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD-EOAD). Although these genes were identified in the 1990s, variant classification remains a challenge, highlighting the need to colligate mutations from large series. We report here a novel update (2012-2016) of the genetic screening of the large AD-EOAD series ascertained across 28 French hospitals from 1993 onwards, bringing the total number of families with identified mutations to n = 170. Families were included when at least two first-degree relatives suffered from early-onset Alzheimer disease (EOAD) with an age of onset (AOO) ≤65 y in two generations. Furthermore, we also screened 129 sporadic cases of Alzheimer disease with an AOO below age 51 (44% males, mean AOO = 45 ± 2 y). APP, PSEN1, or PSEN2 mutations were identified in 53 novel AD-EOAD families. Of the 129 sporadic cases screened, 17 carried a PSEN1 mutation and 1 carried an APP duplication (13%). Parental DNA was available for 10 sporadic mutation carriers, allowing us to show that the mutation had occurred de novo in each case. Thirteen mutations (12 in PSEN1 and 1 in PSEN2) identified either in familial or in sporadic cases were previously unreported. Of the 53 mutation carriers with available cerebrospinal fluid (CSF) biomarkers, 46 (87%) had all three CSF biomarkers-total tau protein (Tau), phospho-tau protein (P-Tau), and amyloid β (Aβ)42-in abnormal ranges. No mutation carrier had the three biomarkers in normal ranges. One limitation of this study is the absence of functional assessment of the possibly and probably pathogenic variants, which should help their classification. Our findings suggest that a nonnegligible fraction of PSEN1 mutations occurs de novo, which is of high importance for genetic counseling, as PSEN1 mutational screening is currently performed in familial cases only. Among the 90 distinct mutations found in the whole

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Directory of Open Access Journals (Sweden)

Hélène-Marie Lanoiselée

2017-03-01

Full Text Available Amyloid protein precursor (APP, presenilin-1 (PSEN1, and presenilin-2 (PSEN2 mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD-EOAD. Although these genes were identified in the 1990s, variant classification remains a challenge, highlighting the need to colligate mutations from large series.We report here a novel update (2012-2016 of the genetic screening of the large AD-EOAD series ascertained across 28 French hospitals from 1993 onwards, bringing the total number of families with identified mutations to n = 170. Families were included when at least two first-degree relatives suffered from early-onset Alzheimer disease (EOAD with an age of onset (AOO ≤65 y in two generations. Furthermore, we also screened 129 sporadic cases of Alzheimer disease with an AOO below age 51 (44% males, mean AOO = 45 ± 2 y. APP, PSEN1, or PSEN2 mutations were identified in 53 novel AD-EOAD families. Of the 129 sporadic cases screened, 17 carried a PSEN1 mutation and 1 carried an APP duplication (13%. Parental DNA was available for 10 sporadic mutation carriers, allowing us to show that the mutation had occurred de novo in each case. Thirteen mutations (12 in PSEN1 and 1 in PSEN2 identified either in familial or in sporadic cases were previously unreported. Of the 53 mutation carriers with available cerebrospinal fluid (CSF biomarkers, 46 (87% had all three CSF biomarkers-total tau protein (Tau, phospho-tau protein (P-Tau, and amyloid β (Aβ42-in abnormal ranges. No mutation carrier had the three biomarkers in normal ranges. One limitation of this study is the absence of functional assessment of the possibly and probably pathogenic variants, which should help their classification.Our findings suggest that a nonnegligible fraction of PSEN1 mutations occurs de novo, which is of high importance for genetic counseling, as PSEN1 mutational screening is currently performed in familial cases only. Among the 90 distinct mutations found in the

Strong influence of regional species pools on continent-wide structuring of local communities

OpenAIRE

Lessard, Jean-Philippe; Borregaard, Michael K.; Fordyce, James A.; Rahbek, Carsten; Weiser, Michael D.; Dunn, Robert R.; Sanders, Nathan J.

2011-01-01

There is a long tradition in ecology of evaluating the relative contribution of the regional species pool and local interactions on the structure of local communities. Similarly, a growing number of studies assess the phylogenetic structure of communities, relative to that in the regional species pool, to examine the interplay between broad-scale evolutionary and fine-scale ecological processes. Finally, a renewed interest in the influence of species source pools on communities has shown that...

Somatic mutations in mismatch repair genes in sporadic gastric carcinomas are not a cause but a consequence of the mutator phenotype

NARCIS (Netherlands)

Pinto, Mafalda; Wub, Ying; Mensink, Rob G. J.; Cirnes, Luis; Seruca, Raquel; Hofstra, Robert M. W.

2008-01-01

In hereditary nonpolyposis colorectal cancer (HNPCC), patients' mismatch repair (MMR) gene mutations cause MMR deficiency, leading to microsatellite instability (MSI-H). MSI-H is also found in a substantial fraction of sporadic gastric carcinomas (SGC), mainly due to MLH1 promoter hypermethylation,

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

DEFF Research Database (Denmark)

Jørgensen, Anders Nørkær; Aagaard, P; Nielsen, J L

2016-01-01

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...

N-acetyl transferase 2/environmental factors and their association as a modulating risk factor for sporadic colon and rectal cancer.

Science.gov (United States)

Procopciuc, Lucia M; Osian, Gelu; Iancu, Mihaela

2017-09-01

The aim of this study was to evaluate the association between environmental factors and colon or rectal cancer after adjusting for N-acetyl transferase 2 (NAT2) phenotypes. Ninety-six patients with sporadic colon cancer, 54 with sporadic rectal cancer and 162 control subjects were genotyped for NAT2-T341C, G590A, G857A, A845C, and C481T using sequencing and PCR-RFLP analysis. The risk for colon cancer was increased in carriers of the homozygous negative genotypes for NAT2*5C-T341C, NAT2*6B-G590A, NAT2*7B-G857A, NAT2*18-A845C, and NAT2*5A-C481T. The risk for rectal cancer was increased in carriers of the homozygous negative genotypes for NAT2*5C-T341C, NAT2*7B-G857A, and NAT2*5A-C481T. High fried red meat intake associated with NAT2-T341C, G590A, G857A, A845C, and C481T rapid acetylator allele determines a risk of 2.39 (P=.002), 2.39 (P=.002), 2.37 (P=.002), 2.28 (P=.004), and 2.51 (P=.001), respectively, for colon cancer, whereas in the case of rectal cancer, the risk increased to 7.55 (Pcolon cancer, whereas the risk for rectal cancer is 9.72 (Pcolon cancer. Fried red meat, alcohol, and smoking increase the risk of sporadic CRC, especially of colon cancer, in the case of rapid acetylators for the NAT2 variants. © 2016 Wiley Periodicals, Inc.

A quantitative study of the neuropathology of 32 sporadic and familial cases of frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP).

Science.gov (United States)

Armstrong, R A; Carter, D; Cairns, N J

2012-02-01

To further characterize the neuropathology of the heterogeneous molecular disorder frontotemporal lobar degeneration (FTLD) with transactive response (TAR) DNA-binding protein of 43 kDa (TDP-43) proteinopathy (FTLD-TDP). We quantified the neuronal cytoplasmic inclusions, glial inclusions, neuronal intranuclear inclusions, dystrophic neurites, surviving neurones, abnormally enlarged neurones, and vacuoles in regions of the frontal and temporal lobe using a phosphorylation-independent TDP-43 antibody in 32 cases of FTLD-TDP comprising sporadic and familial cases, with associated pathology such as hippocampal sclerosis (HS) or Alzheimer's disease (AD), and four neuropathological subtypes using TDP-43 immunohistochemistry. Analysis of variance (anova) was used to compare differences between the various groups of cases. These data from FTLD-TDP cases demonstrate quantitative differences in pathological features between: (i) regions of the frontal and temporal lobe; (ii) upper and lower cortex; (iii) sporadic and progranulin (GRN) mutation cases; (iv) cases with and without AD or HS; and (v) between assigned subtypes. The data confirm that the dentate gyrus is a major site of neuropathology in FTLD-TDP and that most laminae of the cerebral cortex are affected. GRN mutation cases are quantitatively different from sporadic cases, while cases with associated HS and AD have increased densities of dystrophic neurites and abnormally enlarged neurones respectively. There is little correlation between the subjective assessment of subtypes and the more objective quantitative data. © 2011 The Authors. Neuropathology and Applied Neurobiology © 2011 British Neuropathological Society.

Sporadic Creutzfeldt-Jakob Disease MM1+2C and MM1 are Identical in Transmission Properties.

Science.gov (United States)

Kobayashi, Atsushi; Matsuura, Yuichi; Iwaki, Toru; Iwasaki, Yasushi; Yoshida, Mari; Takahashi, Hitoshi; Murayama, Shigeo; Takao, Masaki; Kato, Shinsuke; Yamada, Masahito; Mohri, Shirou; Kitamoto, Tetsuyuki

2016-01-01

The genotype (methionine, M or valine, V) at polymorphic codon 129 of the PRNP gene and the type (1 or 2) of abnormal prion protein in the brain are the major determinants of the clinicopathological features of sporadic Creutzfeldt-Jakob disease (CJD), thus providing molecular basis for classification of sporadic CJD, that is, MM1, MM2, MV1, MV2, VV1 or VV2. In addition to these "pure" cases, "mixed" cases presenting mixed neuropathological and biochemical features have also been recognized. The most frequently observed mixed form is the co-occurrence of MM1 and MM2, namely MM1+2. However, it has remained elusive whether MM1+2 could be a causative origin of dura mater graft-associated CJD (dCJD), one of the largest subgroups of iatrogenic CJD. To test this possibility, we performed transmission experiments of MM1+2 prions and a systematic neuropathological examination of dCJD patients in the present study. The transmission properties of the MM1+2 prions were identical to those of MM1 prions because MM2 prions lacked transmissibility. In addition, the neuropathological characteristics of MM2 were totally absent in dCJD patients examined. These results suggest that MM1+2 can be a causative origin of dCJD and causes neuropathological phenotype similar to that of MM1. © 2015 International Society of Neuropathology.

Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients

Directory of Open Access Journals (Sweden)

Katarina Vrabec

2018-04-01

Full Text Available Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects. We aimed to evaluate the differential expression of 10 miRNAs, including miR-9, miR-338, miR-638, miR-663a, miR-124a, miR-143, miR-451a, miR-132, miR-206, and let-7b, for which some connection to ALS was shown previously in ALS culture cells, animal models or patients, and in three miRNA host genes, including C1orf61 (miR-9, AATK (miR-338, and DNM2 (miR-638, in leukocyte samples of 84 patients with sporadic ALS. We observed significant aberrant dysregulation across our patient cohort for miR-124a, miR-206, miR-9, let-7b, and miR-638. Since we did not use neurological controls we cannot rule out that the revealed differences in expression of investigated miRNAs are specific for ALS. Nevertheless, the group of these five miRNAs is worth of additional research in leukocytes of larger cohorts from different populations in order to verify their potential association to ALS disease. We also detected a significant up-regulation of the AAKT gene and down-regulation of the DNM2 gene, and thus, for the first time, we connected these with sporadic ALS cases. These findings open up new research toward miRNAs as diagnostic biomarkers and epigenetic processes involved in ALS. The detected significant deregulation of AAKT and DNM2 in sporadic ALS also represents an interesting finding. The DNM2 gene was previously found to be mutated in Charcot-Marie-Tooth neuropathy-type CMT2M and centronuclear myopathy (CNM. In addition, as recent studies connected AATK and frontotemporal dementia (FTD and DNM2 and hereditary spastic paraplegia (HSP, these two genes together with our results genetically connect, at least in part, five diseases, including FTD, HSP, Charcot-Marie-Tooth (type CMT2M, CNM

Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.

Science.gov (United States)

Ancliff, P J; Gale, R E; Liesner, R; Hann, I M; Linch, D C

2001-11-01

Severe congenital neutropenia (SCN) was originally described as an autosomal recessive disorder. Subsequently, autosomal dominant and sporadic forms of the disease have been recognized. All forms are manifest by persistent severe neutropenia and recurrent bacterial infection. In contrast, cyclical hematopoiesis is characterized by periodic neutropenia inter-spaced with (near) normal neutrophil counts. Recently, linkage analysis on 13 affected pedigrees identified chromosome 19p13.3 as the likely position for mutations in cyclical hematopoiesis. Heterozygous mutations in the ELA2 gene encoding neutrophil elastase were detected in all families studied. Further work also demonstrated mutations in ELA2 in sporadic and autosomal dominant SCN. However, all mutations described to date are heterozygous and thus appear to act in a dominant fashion, which is inconsistent with an autosomal recessive disease. Therefore, the current study investigated whether mutations in ELA2 could account for the disease phenotype in classical autosomal recessive SCN and in the sporadic and autosomal dominant types. All 5 exons of ELA2 and their flanking introns were studied in 18 patients (3 autosomal recessive, 5 autosomal dominant [from 3 kindreds], and 10 sporadic) using direct automated sequencing. No mutations were found in the autosomal recessive families. A point mutation was identified in 1 of 3 autosomal dominant families, and a base substitution was identified in 8 of 10 patients with the sporadic form, though 1 was subsequently shown to be a low-frequency polymorphism. These results suggest that mutations in ELA2 are not responsible for classical autosomal recessive Kostmann syndrome but provide further evidence for the role of ELA2 in SCN.

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.

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

Large-scale flows, sheet plumes and strong magnetic fields in a rapidly rotating spherical dynamo

Science.gov (United States)

Takahashi, F.

2011-12-01

Mechanisms of magnetic field intensification by flows of an electrically conducting fluid in a rapidly rotating spherical shell is investigated. Bearing dynamos of the Eartn and planets in mind, the Ekman number is set at 10-5. A strong dipolar solution with magnetic energy 55 times larger than the kinetic energy of thermal convection is obtained. In a regime of small viscosity and inertia with the strong magnetic field, convection structure consists of a few large-scale retrograde flows in the azimuthal direction and sporadic thin sheet-like plumes. The magnetic field is amplified through stretching of magnetic lines, which occurs typically through three types of flow: the retrograde azimuthal flow near the outer boundary, the downwelling flow of the sheet plume, and the prograde azimuthal flow near the rim of the tangent cylinder induced by the downwelling flow. It is found that either structure of current loops or current sheets is accompanied in each flow structure. Current loops emerge as a result of stretching the magnetic lines along the magnetic field, wheres the current sheets are formed to counterbalance the Coriolis force. Convection structure and processes of magnetic field generation found in the present model are distinct from those in models at larger/smaller Ekman number.

Gamma Knife radiosurgery for treatment of growing vestibular schwannomas in patients with neurofibromatosis Type 2: a matched cohort study with sporadic vestibular schwannomas.

Science.gov (United States)

Kruyt, Ivo J; Verheul, Jeroen B; Hanssens, Patrick E J; Kunst, Henricus P M

2018-01-01

OBJECTIVE Neurofibromatosis Type 2 (NF2) is a tumor syndrome characterized by an autosomal dominant pattern of inheritance. The hallmark of NF2 is the development of bilateral vestibular schwannomas (VSs), generally by 30 years of age. One of the first-line treatment options for small to medium-large VSs is radiosurgery. Although radiosurgery shows excellent results in sporadic VS, its use in NF2-related VS is still a topic of dispute. The aim of this study was to evaluate long-term tumor control, hearing preservation rates, and factors influencing outcome of optimally dosed, contemporary Gamma Knife radiosurgery (GKRS) for growing VSs in patients with NF2 and compare the findings to data obtained in patients with sporadic VS also treated by means of GKRS. METHODS The authors performed a retrospective analysis of 47 growing VSs in 34 NF2 patients who underwent GKRS treatment performed with either the Model C or Perfexion Leksell Gamma Knife, with a median margin dose of 11 Gy. Actuarial tumor control rates were estimated using the Kaplan-Meier method. For patient- and treatment-related factors, a Cox proportional hazards model was used to identify predictors of outcome. Trigeminal, facial, and vestibulocochlear nerve function were assessed before and after treatment. NF2-related VS patients were matched 1:1 with sporadic VS patients who were treated in the same institute, and the same indications for treatment, definitions, and dosimetry were used in order to compare outcomes. RESULTS Actuarial tumor control rates in NF2 patients after 1, 3, 5, and 8 years were 98%, 89%, 87%, and 87%, respectively. Phenotype and tumor volume had significant hazard rates of 0.086 and 22.99, respectively, showing that Feiling-Gardner phenotype and a tumor volume not exceeding 6 cm 3 both were associated with significantly better outcome. Actuarial rates of serviceable hearing preservation after 1, 3, 5, and 7 years were 95%, 82%, 59%, and 33%, respectively. None of the patients

Strong Coupling between Plasmons and Organic Semiconductors

Directory of Open Access Journals (Sweden)

Joel Bellessa

2014-05-01

Full Text Available In this paper we describe the properties of organic material in strong coupling with plasmon, mainly based on our work in this field of research. The strong coupling modifies the optical transitions of the structure, and occurs when the interaction between molecules and plasmon prevails on the damping of the system. We describe the dispersion relation of different plasmonic systems, delocalized and localized plasmon, coupled to aggregated dyes and the typical properties of these systems in strong coupling. The modification of the dye emission is also studied. In the second part, the effect of the microscopic structure of the organics, which can be seen as a disordered film, is described. As the different molecules couple to the same plasmon mode, an extended coherent state on several microns is observed.

ATM down-regulation is associated with poor prognosis in sporadic breast carcinomas

DEFF Research Database (Denmark)

Bueno, R C; Canevari, R A; Villacis, R A R

2014-01-01

BACKGROUND: Ataxia telangiectasia-mutated (ATM) gene downexpression has been reported in sporadic breast carcinomas (BC); however, the prognostic value and mechanisms of ATM deregulation remain unclear. PATIENTS AND METHODS: ATM and miRNAs (miR-26a, miR-26b, miR-203, miR-421, miR-664, miR-576-5p...... and miR-18a) expression levels were evaluated by quantitative real-time PCR (RT-qPCR) in 52 BC and 3 normal breast samples. ATM protein expression was assessed by immunohistochemistry in 968 BC and 35 adjacent normal breast tissues. ATM copy number alteration was detected by array comparative genomic...... hybridization (aCGH) in 42 tumours. RESULTS: Low ATM levels were associated with tumour grade. Absence of ATM protein expression was associated with distant metastasis (P ATM...

Sediment and plankton lift off recirculations in strong synthetic turbulence (KS)

Science.gov (United States)

Redondo, Jose M.; Castilla, Roberto; Sekula, Emil; Furmanek, Petr

2014-05-01

stratified flow. The properties of ensemble averages of the separation between two particles in a 2D turbulent flow were considered, and the KS approach was found to give satisfactory answers, with good comparison to experiment. We also compare structure and intermittency between KS and DNS. And experiments (Redondo 1988) The dynamical processes associated with the stably stratified atmospheric boundary layer or in the ocean thermocline are less well understood than those of its convective counterparts. This is due to its complexity, and the fact that buoyancy reduces entrainment across density interfaces. We present results on a numerical simulation of homogeneous and density stratified fluids and of comparable laboratory experiments where a sharp density interface generated by either salt concentration or heat, advances due to grid stirred turbulence Redondo (1988, 1990). The appearance of bursts of turbulence in very stable conditions due to breaking up of the internal waves, confers a sporadic character to the turbulence; these conditions of non-fully developed turbulence could explain this unusual behaviour of the scaling exponents. (Mahjoub et al. 1998, 20009 The structure functions show, in the inertial range, a potential law . The relation is concave in strong mixing situations (instability with fully developed turbulence), and convex in very stable situations (in which the breaking up of the interval waves confers a sporadic character to the turbulence).The multifractal model can not be used to represent situations of non-fully developed turbulence but the use of structure function analysis allows the investigation of intermittent and scale to scale energy transfer even in local non equilibrium flows. The relative diffusion of tracers is strongly dependent on the slope of the energy spectra which tends to Richardson's law also for very steep spectra. (Castilla et al. 2007) Local turbulence is used to establish the geometry of the turbulence mixing, changes in the

Transverse Localization of Light

NARCIS (Netherlands)

Raedt, Hans De; Lagendijk, Ad; Vries, Pedro de

1989-01-01

We study the propagation of light through a semi-infinite medium with transverse disorder (that is, disorder in two directions only). We show that such a system exhibits strong two-dimensional localization by demonstrating that on propagation a beam expands until the transverse localization length

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

International Nuclear Information System (INIS)

Takahashi, Hirohide; Snow, B.J.; Bhatt, M.H.; Peppard, R.; Eisen, A.; Calne, D.B.

1993-01-01

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

The Dirac equation in the local representation - contributions to the quantum electrodynamics of strong fields

International Nuclear Information System (INIS)

Schlueter, P.

1985-05-01

In this work three topics related to the theory of positron creation in heavy ion collisions are investigated. The first of these is concerned with the local representation of the Dirac matrices. It consists of a space dependent similarity transformation of the Dirac matrices which is chosen in such a way that for certain orthogonal coordinate systems the Dirac equation assumes a simple standardized form. This form is well suited for analytical as well as numerical calculations. For all generally used coordinate systems the transformation can be given in closed form. The application of this idea is not restricted to the solution of the two-centre Dirac equation but may be used also for different electro-magnetic potentials. In the second of the above mentioned problems, the question is discussed, whether the recently observed peak structures in positron spectra from U-U collisions can originate from nuclear conversion processes. It is demonstrated that, taking this hypothesis at face value, in the photon or delta-electron spectrum corresponding structures should be observed. Moreover, rather large nuclear excitation probabilities in the order of percents are needed to make this explanation plausible. Finally, the third topic is concerned with a more fundamental question: May it be possible that the interaction of the strongly bound electrons in a critical electric field with the radiation field leads to an energy shift which is big enough to prevent the diving of the 1s-state into the negative energy continuum. (orig./HSI) [de

Strong discontinuity with cam clay under large deformations

DEFF Research Database (Denmark)

Katic, Natasa; Hededal, Ole

2008-01-01

The work shows simultaneous implementation of Strong discontinuity approach (SDA) by means of Enhanced Assumed Strain (EAS) and Critical State Soil Mechanics CSSM) in large strain regime. The numerical model is based on an additive decomposition of the displacement gradient into a conforming and ...... and an enhanced part. The localized deformations are approximated by means of a discontinuous displacement field. The applied algorithm leads to a predictor/corrector procedure which is formally identical to the returnmapping algorithm of classical (local and continuous) Cam clay model....

DNA-methyltransferase 3B 39179 G > T polymorphism and risk of sporadic colorectal cancer in a subset of Iranian population

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Abdolreza Daraei

2011-01-01

Full Text Available Background: Epigenetic event is a biological regulation that influences the expression of various genes involved in cancer. DNA methylation is established by DNA methyltransferases, particularly DNAmethyltransferase 3B (DNMT3B. It seems to play an oncogenic role in the creation of abnormal methylation during tumorigenesis. The polymorphisms of the DNMT3B gene may influence DNMT3B activity in DNA methylation and increase the susceptibility to several cancers. These genetic polymorphisms have been studied in several cancers in different populations. Methods: In this study, we performed a case-control study with 125 colorectal cancer patients and 135 cancer-free controls to evaluate the association between DNMT3B G39179T polymorphism (rs1569686 in the promoter region and the risk of sporadic colorectal cancer. Up to now, few studies have investigated the role of this gene variant in sporadic colorectal cancer with no familial history. The genotypes of DNMT3B G39179T polymorphism was analyzed by PCR-RFLP. Results: We found that compared with G allele carriers, statistically the DNMT3B TT genotype (%34 was significantly associated with increased risk of colorectal cancer (adjusted OR, 3.993, 95% CI, 1.726-9.238, P = 0.001. Compared with DNMT3B TT genotype, the GT and GG genotypes had lower risk of developing sporadic colorectal cancer (OR = 0.848, 95% CI = 0.436-1.650. Conclusions: Our findings were consistent with that of previously reported case-control studies with colorectal cancer. These results suggest that the DNMT3B G39179T polymorphism influences DNMT3B expression, thus contributing to the genetic susceptibility to colorectal cancer. Further mechanistic studies are needed to unravel the causal molecular mechanisms.

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

Czech Academy of Sciences Publication Activity Database

Naccarati, Alessio; Pardini, B.; Hemminki, K.; Vodička, Pavel

2007-01-01

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

Strong contributions of local background climate to urban heat islands

Science.gov (United States)

Zhao, Lei; Lee, Xuhui; Smith, Ronald B.; Oleson, Keith

2014-07-01

The urban heat island (UHI), a common phenomenon in which surface temperatures are higher in urban areas than in surrounding rural areas, represents one of the most significant human-induced changes to Earth's surface climate. Even though they are localized hotspots in the landscape, UHIs have a profound impact on the lives of urban residents, who comprise more than half of the world's population. A barrier to UHI mitigation is the lack of quantitative attribution of the various contributions to UHI intensity (expressed as the temperature difference between urban and rural areas, ΔT). A common perception is that reduction in evaporative cooling in urban land is the dominant driver of ΔT (ref. 5). Here we use a climate model to show that, for cities across North America, geographic variations in daytime ΔT are largely explained by variations in the efficiency with which urban and rural areas convect heat to the lower atmosphere. If urban areas are aerodynamically smoother than surrounding rural areas, urban heat dissipation is relatively less efficient and urban warming occurs (and vice versa). This convection effect depends on the local background climate, increasing daytime ΔT by 3.0 +/- 0.3 kelvin (mean and standard error) in humid climates but decreasing ΔT by 1.5 +/- 0.2 kelvin in dry climates. In the humid eastern United States, there is evidence of higher ΔT in drier years. These relationships imply that UHIs will exacerbate heatwave stress on human health in wet climates where high temperature effects are already compounded by high air humidity and in drier years when positive temperature anomalies may be reinforced by a precipitation-temperature feedback. Our results support albedo management as a viable means of reducing ΔT on large scales.

Summary and consensus in 7th International Conference on acoustic neuroma: An update for the management of sporadic acoustic neuromas

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Hao Wu

2016-12-01

Full Text Available Sporadic vestibular schwannoma (acoustic neuroma is a benign tumor arising from cochleovestibular nerve. Nowadays, various specialties and medical centers are treating this disease, and the multidisciplinary collaboration is the trend. In an effort to promote a uniform standard for reporting clinical results, even for treatment indications, the mainly controversies were posed and discussed during the 7th International Conference on acoustic neuroma, and the agreement was summarized by the Committee of this conference. The main symptoms grading and tumor stage should note its name of classification for making them comparable. The goal of the modern managements for vestibular schwannoma is to improve the quality of life with lower mortality, lower morbidity and better neurological function preservation. The experience of surgical team and their preference might be a major factor for the outcome. Because of lacking of long-term follow-up large data after radiotherapy, and with the development of microsurgery, radiotherapy is now less recommended except for recurrent cases or elderly patients. Keywords: Sporadic acoustic neuroma, Vestibular schwannoma, Management, Symptoms grading, Tumor stage, Microsurgery, Radiotherapy

Solar eclipse effects of 22 July 2009 on Sporadic-E

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G. Chen

2010-02-01

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

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.

Positive selection at codon 38 of the human KCNE1 (= minK gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes

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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.

Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic care.

Science.gov (United States)

Malik, Sajid; Afzal, Muhammad

2013-03-01

Congenital transverse limb anomalies are rare, which affect upper and/or lower limbs and may accompany several syndromic malformations. We present a sporadic male subject with congenital, unilateral transverse arrest of the left hand. The affected arm was observed to be short with reduced zeugopod and truncated palm. Fingers were represented by five bead-like nubbins. Roentgenographic examination revealed short radius and ulna with hypoplastic distal heads, absent carpals/metacarpals, and a hypoplastic bony island in each nubbin. Consanguinity was denied, and the subject had no symptoms in the orofacial, neurological and skeletal systems. Detailed clinical data with literature survey is presented.

Sporadic case of listeriosis associated with the consumption of a Listeria monocytogenes-contaminated 'Camembert' cheese.

Science.gov (United States)

Gilot, P; Hermans, C; Yde, M; Gigi, J; Janssens, M; Genicot, A; André, P; Wauters, G

1997-09-01

Listeria monocytogenes is an intracellular gram-positive organism responsible for severe infections in both humans and animals. Whereas the food-borne transmission of listeriosis was demonstrated in several outbreaks, most cases of listeriosis occur sporadically and are rarely linked with consumption of contaminated foods. In this paper a case of septicaemia with L. monocytogenes in a 73-year-old immunocompromised man is described. Evidence for the association of this case of listeriosis with the consumption of a contaminated 'Camembert' cheese is provided by serotyping, esterase typing, DNA macrorestriction patterns analysis and level of virulence of the isolated strains for mice.

A morphing strategy to couple non-local to local continuum mechanics

KAUST Repository

Lubineau, Gilles

2012-06-01

A method for coupling non-local continuum models with long-range central forces to local continuum models is proposed. First, a single unified model that encompasses both local and non-local continuum representations is introduced. This model can be purely non-local, purely local or a hybrid depending on the constitutive parameters. Then, the coupling between the non-local and local descriptions is performed through a transition (morphing) affecting only the constitutive parameters. An important feature is the definition of the morphing functions, which relies on energy equivalence. This approach is useful in large-scale modeling of materials that exhibit strong non-local effects. The computational cost can be reduced while maintaining a reasonable level of accuracy. Efficiency, robustness and basic properties of the approach are discussed using one- and two-dimensional examples. © 2012 Elsevier Ltd.

A morphing strategy to couple non-local to local continuum mechanics

KAUST Repository

Lubineau, Gilles; Azdoud, Yan; Han, Fei; Rey, Christian C.; Askari, Abe H.

2012-01-01

A method for coupling non-local continuum models with long-range central forces to local continuum models is proposed. First, a single unified model that encompasses both local and non-local continuum representations is introduced. This model can be purely non-local, purely local or a hybrid depending on the constitutive parameters. Then, the coupling between the non-local and local descriptions is performed through a transition (morphing) affecting only the constitutive parameters. An important feature is the definition of the morphing functions, which relies on energy equivalence. This approach is useful in large-scale modeling of materials that exhibit strong non-local effects. The computational cost can be reduced while maintaining a reasonable level of accuracy. Efficiency, robustness and basic properties of the approach are discussed using one- and two-dimensional examples. © 2012 Elsevier Ltd.

Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification

NARCIS (Netherlands)

Parchi, P.; Strammiello, R.; Notari, S.; Giese, A.; Langeveld, J.P.M.; Ladogana, A.; Zerr, I.; Roncaroli, F.; Cras, P.; Ghetti, B.; Pocchiari, M.; Kretzschmar, H.; Capellari, S.

2009-01-01

Six subtypes of sporadic Creutzfeldt-Jakob disease with distinctive clinico-pathological features have been identified largely based on two types of the abnormal prion protein, PrPSc, and the methionine (M)/valine (V) polymorphic codon 129 of the prion protein. The existence of affected subjects

PRIMAL: Page Rank-Based Indoor Mapping and Localization Using Gene-Sequenced Unlabeled WLAN Received Signal Strength

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Mu Zhou

2015-09-01

Full Text Available Due to the wide deployment of wireless local area networks (WLAN, received signal strength (RSS-based indoor WLAN localization has attracted considerable attention in both academia and industry. In this paper, we propose a novel page rank-based indoor mapping and localization (PRIMAL by using the gene-sequenced unlabeled WLAN RSS for simultaneous localization and mapping (SLAM. Specifically, first of all, based on the observation of the motion patterns of the people in the target environment, we use the Allen logic to construct the mobility graph to characterize the connectivity among different areas of interest. Second, the concept of gene sequencing is utilized to assemble the sporadically-collected RSS sequences into a signal graph based on the transition relations among different RSS sequences. Third, we apply the graph drawing approach to exhibit both the mobility graph and signal graph in a more readable manner. Finally, the page rank (PR algorithm is proposed to construct the mapping from the signal graph into the mobility graph. The experimental results show that the proposed approach achieves satisfactory localization accuracy and meanwhile avoids the intensive time and labor cost involved in the conventional location fingerprinting-based indoor WLAN localization.

PRIMAL: Page Rank-Based Indoor Mapping and Localization Using Gene-Sequenced Unlabeled WLAN Received Signal Strength.

Science.gov (United States)

Zhou, Mu; Zhang, Qiao; Xu, Kunjie; Tian, Zengshan; Wang, Yanmeng; He, Wei

2015-09-25

Due to the wide deployment of wireless local area networks (WLAN), received signal strength (RSS)-based indoor WLAN localization has attracted considerable attention in both academia and industry. In this paper, we propose a novel page rank-based indoor mapping and localization (PRIMAL) by using the gene-sequenced unlabeled WLAN RSS for simultaneous localization and mapping (SLAM). Specifically, first of all, based on the observation of the motion patterns of the people in the target environment, we use the Allen logic to construct the mobility graph to characterize the connectivity among different areas of interest. Second, the concept of gene sequencing is utilized to assemble the sporadically-collected RSS sequences into a signal graph based on the transition relations among different RSS sequences. Third, we apply the graph drawing approach to exhibit both the mobility graph and signal graph in a more readable manner. Finally, the page rank (PR) algorithm is proposed to construct the mapping from the signal graph into the mobility graph. The experimental results show that the proposed approach achieves satisfactory localization accuracy and meanwhile avoids the intensive time and labor cost involved in the conventional location fingerprinting-based indoor WLAN localization.

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

International Nuclear Information System (INIS)

Rhmer, V.; Murat, A.

2000-01-01

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)

Sporadic Legionnaires' disease: the role of domestic electric hot-water tanks.

Science.gov (United States)

Dufresne, S F; Locas, M C; Duchesne, A; Restieri, C; Ismaïl, J; Lefebvre, B; Labbé, A C; Dion, R; Plante, M; Laverdière, M

2012-01-01

Sporadic community-acquired legionellosis (SCAL) can be acquired through contaminated aerosols from residential potable water. Electricity-dependent hot-water tanks are widely used in the province of Quebec (Canada) and have been shown to be frequently contaminated with Legionella spp. We prospectively investigated the homes of culture-proven SCAL patients from Quebec in order to establish the proportion of patients whose domestic potable hot-water system was contaminated with the same Legionella isolate that caused their pneumonia. Water samples were collected in each patient's home. Environmental and clinical isolates were compared using pulsed-field gel electrophoresis. Thirty-six patients were enrolled into the study. Legionella was recovered in 12/36 (33%) homes. The residential and clinical isolates were found to be microbiologically related in 5/36 (14%) patients. Contaminated electricity-heated domestic hot-water systems contribute to the acquisition of SCAL. The proportion is similar to previous reports, but may be underestimated.

Insulin-Resistant Brain State: the culprit in sporadic Alzheimer’s Disease?

Science.gov (United States)

Correia, Sónia C.; Santos, Renato X.; Perry, George; Zhu, Xiongwei; Moreira, Paula I.; Smith, Mark A.

2011-01-01

Severe abnormalities in brain glucose/energy metabolism and insulin signaling have been documented to take a pivotal role in early sporadic Alzheimer’s disease (sAD) pathology. Indeed, the “insulin-resistant brain state” has been hypothesized to form the core of the neurodegenerative events that occur in sAD. In this vein, intracerebroventricular administration of subdiabetogenic doses of streptozotocin (STZ) in rats can induce an insulin-resistant brain state, which is proposed as a suitable experimental model of sAD. This review highlights the involvement of disturbed brain insulin metabolism in sAD etiopathogenesis. Furthermore, current knowledge demonstrates that central STZ administration produces brain pathology and behavioral changes that resemble changes found in sAD patients. The STZ-intracerebroventricularly treated rat represents a promising experimental tool in this field by providing new insights concerning early brain alterations in sAD, which can be translated in novel etiopathogenic and therapeutic approaches in this disease. PMID:21262392

Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism.

Science.gov (United States)

Roberts, Stephanie A; Moon, Jennifer E; Dauber, Andrew; Smith, Jessica R

2017-03-01

Primary nonautoimmune hyperthyroidism is a rare cause of neonatal hyperthyroidism. This results from an activating mutation in the thyrotropin-receptor (TSHR). It can be inherited in an autosomal dominant manner or occur sporadically as a de novo mutation. Affected individuals display a wide phenotype from severe neonatal to mild subclinical hyperthyroidism. We describe a 6-month-old boy with a de novo mutation in the TSHR gene who presented with accelerated growth, enlarging head circumference, tremor and thyrotoxicosis. Genomic DNA from the patient's and parents' peripheral blood leukocytes was extracted. Exons 9 and 10 of the TSHR gene were amplified by PCR and sequenced. Sequencing exon 10 of the TSHR gene revealed a novel heterozygous missense mutation substituting cytosine to adenine at nucleotide position 1534 in the patient's peripheral blood leukocytes. This leads to a substitution of leucine to methionine at amino acid position 512. The mutation was absent in the parents. In silico modeling by PolyPhen-2 and SIFT predicted the mutation to be deleterious. The p.Leu512Met mutation (c.1534C>A) of the TSHR gene has not been previously described in germline or somatic mutations. This case presentation highlights the possibility of mild thyrotoxicosis in affected individuals and contributes to the understanding of sporadic non-autoimmune primary hyperthyroidism.

Interaction of a strong vortex with decaying turbulence

International Nuclear Information System (INIS)

Terry, P.W.

1988-01-01

The evolution of a localized, axially symmetric vortex under the action of shear stresses associated with decaying two-dimensional turbulent vorticity which is inhomogeneous in the presence of the vortex is studied analytically. For a vortex which is sufficiently strong relative to the coefficient of turbulent eddy viscosity, it is shown that turbulent fluctuations in the vortex interior and diffusion of coherent vorticity by the turbulence localize to the vortex periphery. It is also found that the coefficient of diffusion is small compared to the coefficient of eddy viscosity. 8 refs

Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis.

Science.gov (United States)

Coppedè, Fabio; Migheli, Francesca; Lo Gerfo, Annalisa; Fabbrizi, Maria Rita; Carlesi, Cecilia; Mancuso, Michelangelo; Corti, Stefania; Mezzina, Nicoletta; del Bo, Roberto; Comi, Giacomo P; Siciliano, Gabriele; Migliore, Lucia

2010-01-01

The aim of the present study was to investigate the possible contribution of three common functional polymorphisms in the DNA repair protein X-ray repair cross-complementing group 1 (XRCC1), namely Arg194Trp (rs1799782), Arg280His (rs25489) and Arg399Gln (rs25487), to sporadic amyotrophic lateral sclerosis (SALS). We genotyped 206 Italian SALS patients and 203 matched controls for XRCC1 Arg194Trp, Arg280His and Arg399Gln polymorphisms by means of PCR/RFLP technique, searching for association between any of the studied polymorphisms and disease risk, age and site of onset. We observed a statistically significant difference in XRCC1 Gln399 allele frequencies between SALS cases and controls (0.39/0.28; p=0.001). The present study suggests that the XRCC1 Arg399Gln polymorphism might contribute to SALS risk.

Network analysis reveals strongly localized impacts of El Niño

Science.gov (United States)

Fan, Jingfang; Meng, Jun; Ashkenazy, Yosef; Havlin, Shlomo; Schellnhuber, Hans Joachim

2017-07-01

Climatic conditions influence the culture and economy of societies and the performance of economies. Specifically, El Niño as an extreme climate event is known to have notable effects on health, agriculture, industry, and conflict. Here, we construct directed and weighted climate networks based on near-surface air temperature to investigate the global impacts of El Niño and La Niña. We find that regions that are characterized by higher positive/negative network “in”-weighted links are exhibiting stronger correlations with the El Niño basin and are warmer/cooler during El Niño/La Niña periods. In contrast to non-El Niño periods, these stronger in-weighted activities are found to be concentrated in very localized areas, whereas a large fraction of the globe is not influenced by the events. The regions of localized activity vary from one El Niño (La Niña) event to another; still, some El Niño (La Niña) events are more similar to each other. We quantify this similarity using network community structure. The results and methodology reported here may be used to improve the understanding and prediction of El Niño/La Niña events and also may be applied in the investigation of other climate variables.

Complex dynamics induced by strong confinement - From tracer diffusion in strongly heterogeneous media to glassy relaxation of dense fluids in narrow slits

Science.gov (United States)

Mandal, Suvendu; Spanner-Denzer, Markus; Leitmann, Sebastian; Franosch, Thomas

2017-08-01

We provide an overview of recent advances of the complex dynamics of particles in strong confinements. The first paradigm is the Lorentz model where tracers explore a quenched disordered host structure. Such systems naturally occur as limiting cases of binary glass-forming systems if the dynamics of one component is much faster than the other. For a certain critical density of the host structure the tracers undergo a localization transition which constitutes a critical phenomenon. A series of predictions in the vicinity of the transition have been elaborated and tested versus computer simulations. Analytical progress is achieved for small obstacle densities. The second paradigm is a dense strongly interacting liquid confined to a narrow slab. Then the glass transition depends nonmonotonically on the separation of the plates due to an interplay of local packing and layering. Very small slab widths allow to address certain features of the statics and dynamics analytically.

Simultaneous lidar observation of peculiar sporadic K and Na layers at São José dos Campos (23.1°S, 45.9°W), Brazil

Science.gov (United States)

Jiao, Jing; Yang, Guotao; Cheng, Xuewu; Liu, Zhengkuan; Wang, Jihong; Yan, Zhenzhong; Wang, Chi; Batista, Paulo; Pimenta, Alexandre; Andrioli, Vânia; Denardini, C. M.

2018-04-01

We present the first simultaneous observation of mesopause sodium (Na) and potassium (K) layer by a lidar which has Na and K channel simultaneously at the South Hemisphere site, São José dos Campos (23.1°S, 45.9°W). Measurements reported here were conducted on two nights with 3.5 and 8 h of observations in November 2016. On 20 November 2016, sporadic layers in both Na and K layer occurred above 100 km, and the higher layers corresponded well with sporadic E (Es) layer. And the density of Na at 100-105 km is higher than that at main layer around 90 km, but K density around 100 km is at least 3 times smaller compared with the K density around 90 km for the similar period. On 21 November 2016, both sporadic layers occurred in main layer height with obvious descending variations with time, which seems like tidal induced. Notably, the peak K/Na ratio slowly increased with time. And Na layer and K layer showed different processes along with time with K density reaching its maximum 1 h later than that of Na. Correlations of Na/K density, Es, and winds were also discussed.

PREFACE: Strongly correlated electron systems Strongly correlated electron systems

Science.gov (United States)

Saxena, Siddharth S.; Littlewood, P. B.

2012-07-01

make use of 'small' electrons packed to the highest possible density. These are by definition 'strongly correlated'. For example: good photovoltaics must be efficient optical absorbers, which means that photons will generate tightly bound electron-hole pairs (excitons) that must then be ionised at a heterointerface and transported to contacts; efficient solid state refrigeration depends on substantial entropy changes in a unit cell, with large local electrical or magnetic moments; efficient lighting is in a real sense the inverse of photovoltaics; the limit of an efficient battery is a supercapacitor employing mixed valent ions; fuel cells and solar to fuel conversion require us to understand electrochemistry on the scale of a single atom; and we already know that the only prospect for effective high temperature superconductivity involves strongly correlated materials. Even novel IT technologies are now seen to have value not just for novel function but also for efficiency. While strongly correlated electron systems continue to excite researchers and the public alike due to the fundamental science issues involved, it seems increasingly likely that support for the science will be leveraged by its impact on energy and sustainability. Strongly correlated electron systems contents Strongly correlated electron systemsSiddharth S Saxena and P B Littlewood Magnetism, f-electron localization and superconductivity in 122-type heavy-fermion metalsF Steglich, J Arndt, O Stockert, S Friedemann, M Brando, C Klingner, C Krellner, C Geibel, S Wirth, S Kirchner and Q Si High energy pseudogap and its evolution with doping in Fe-based superconductors as revealed by optical spectroscopyN L Wang, W Z Hu, Z G Chen, R H Yuan, G Li, G F Chen and T Xiang Structural investigations on YbRh2Si2: from the atomic to the macroscopic length scaleS Wirth, S Ernst, R Cardoso-Gil, H Borrmann, S Seiro, C Krellner, C Geibel, S Kirchner, U Burkhardt, Y Grin and F Steglich Confinement of chiral magnetic

Electromagnetic pulses in a strongly magnetized electron-positron plasma

International Nuclear Information System (INIS)

Yu, M.Y.; Rao, N.N.

1985-01-01

The conditions for the existence of large-amplitude localized electromagnetic wave pulses in an electron-positron plasma penetrated by a very strong ambient magnetic field are obtained. It is shown that such pulses can exist in pulsar polar magnetospheres. 12 references

Non-local effects in kaonic atoms

International Nuclear Information System (INIS)

Lutz, M.; Florkowski, W.

2000-04-01

Optical potentials with non-local (gradient) terms are used to describe the spectra of kaonic atoms. The strength of the non-local terms is determined from a many-body calculation of the kaon self-energy in nuclear matter. The optical potentials show strong non-linearities in the nucleon density and sizeable non-local terms. We find that the non-local terms are quantitatively important and the results depend strongly on the way the gradient terms are arranged. Phenomenologically successful fits are obtained for p-wave like optical potentials. It is suggested that the microscopic form of the non-local interaction terms is obtained systematically by means of a semi-classical expansion of the nucleus structure. We conclude that a microscopic description of kaonic atom data requires further detailed studies of the microscopic K - nuclear dynamics. (orig.)

Strong spin-photon coupling in silicon

Science.gov (United States)

Samkharadze, N.; Zheng, G.; Kalhor, N.; Brousse, D.; Sammak, A.; Mendes, U. C.; Blais, A.; Scappucci, G.; Vandersypen, L. M. K.

2018-03-01

Long coherence times of single spins in silicon quantum dots make these systems highly attractive for quantum computation, but how to scale up spin qubit systems remains an open question. As a first step to address this issue, we demonstrate the strong coupling of a single electron spin and a single microwave photon. The electron spin is trapped in a silicon double quantum dot, and the microwave photon is stored in an on-chip high-impedance superconducting resonator. The electric field component of the cavity photon couples directly to the charge dipole of the electron in the double dot, and indirectly to the electron spin, through a strong local magnetic field gradient from a nearby micromagnet. Our results provide a route to realizing large networks of quantum dot–based spin qubit registers.

Prospective comparison of {sup 68}Ga-DOTATATE and {sup 18}F-FDOPA PET/CT in patients with various pheochromocytomas and paragangliomas with emphasis on sporadic cases

Energy Technology Data Exchange (ETDEWEB)

Archier, Aurelien; Taieb, David [Aix-Marseille University, Department of Nuclear Medicine, La Timone and North University Hospital, Marseille (France); Aix-Marseille University, European Center for Research in Medical Imaging, Marseille (France); Inserm UMR1068 Marseille Cancerology Research Center, Institut Paoli-Calmettes, Marseille (France); Varoquaux, Arthur; Beschmout, Eva [Aix-Marseille University, Department of Medical Imaging, Conception Hospital, Marseille (France); Garrigue, Philippe; Guillet, Benjamin [Aix-Marseille University, Department of Nuclear Medicine, La Timone and North University Hospital, Marseille (France); Aix-Marseille University, Department of Radiopharmacy, La Timone and North University Hospital, Marseille (France); Montava, Marion; Fakhry, Nicolas [Aix-Marseille University, Department of Otorhinolaryngology-Head and Neck Surgery, Conception Hospital, Marseille (France); Guerin, Carole; Sebag, Frederic [Aix-Marseille University, Department of Endocrine Surgery, Conception Hospital, Marseille (France); Gabriel, Sophie [Aix-Marseille University, Department of Nuclear Medicine, La Timone and North University Hospital, Marseille (France); Aix-Marseille University, European Center for Research in Medical Imaging, Marseille (France); Morange, Isabelle; Castinetti, Frederic [Aix-Marseille University, Department of Endocrinology, Conception Hospital, Marseille (France); Barlier, Anne [Aix-Marseille, University, Laboratory of Biochemistry and Molecular Biology, Conception Hospital, Marseille (France); Loundou, Anderson [Aix-Marseille University, Department of Public Health, Marseille (France); Pacak, Karel [National Institutes of Health, Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, MD (United States)

2016-07-15

Pheochromocytomas/paragangliomas (PHEOs/PGLs) overexpress somatostatin receptors and recent studies have already shown excellent results in the localization of these tumors using {sup 68}Ga-labeled somatostatin analogs ({sup 68}Ga-DOTA-SSA), especially in patients with germline succinate dehydrogenase subunit B gene (SDHB) mutations and head and neck PGLs (HNPGLs). The value of {sup 68}Ga-DOTA-SSA has to be established in sporadic cases, including PHEOs. Thus, the aim of this study was to compare {sup 68}Ga-DOTATATE PET/CT, {sup 18}F-FDOPA PET/CT, and conventional imaging in patients with various PHEOs/PGLs with a special emphasis on sporadic cases, including those located in the adrenal gland. {sup 68}Ga-DOTATATE, {sup 18}F-FDOPA PET/CT, and conventional imaging (contrast-enhanced CT and MRI with MR angiography sequences) were prospectively performed in 30 patients (8 with SDHD mutations, 1 with a MAX mutation and 21 sporadic cases) with PHEO/PGL at initial diagnosis or relapse. The patient-based sensitivities were 93 % (28/30), 97 % (29/30), and 93 % (28/30) for {sup 68}Ga-DOTATATE PET/CT, {sup 18}F-FDOPA PET/CT, and conventional imaging, respectively. The lesion-based sensitivities were 93 % (43/46), 89 % (41/46), and 76 % (35/46) for {sup 68}Ga-DOTATATE PET/CT, {sup 18}F-FDOPA PET/CT, and conventional imaging respectively (p = 0.042). {sup 68}Ga-DOTATATE PET/CT detected a higher number of HNPGLs (30/30) than {sup 18}F-FDOPA PET/CT (26/30; p = 0.112) and conventional imaging (24/30; p = 0.024). {sup 68}Ga-DOTATATE PET/CT missed two PHEOs of a few millimeters in size and a large recurrent PHEO. One lesion was considered false-positive on {sup 68}Ga-DOTATATE PET/CT and corresponded to a typical focal lesion of fibrous dysplasia on MRI. Among the 11 lesions missed by conventional imaging, 7 were detected by conventional imaging with knowledge of the PET results (4 HNPGLs, 2 LNs, and 1 recurrent PHEO). {sup 68}Ga-DOTATATE PET/CT is the most sensitive tool in the

The evolving genetic risk for sporadic ALS.

Science.gov (United States)

Gibson, Summer B; Downie, Jonathan M; Tsetsou, Spyridoula; Feusier, Julie E; Figueroa, Karla P; Bromberg, Mark B; Jorde, Lynn B; Pulst, Stefan M

2017-07-18

To estimate the genetic risk conferred by known amyotrophic lateral sclerosis (ALS)-associated genes to the pathogenesis of sporadic ALS (SALS) using variant allele frequencies combined with predicted variant pathogenicity. Whole exome sequencing and repeat expansion PCR of C9orf72 and ATXN2 were performed on 87 patients of European ancestry with SALS seen at the University of Utah. DNA variants that change the protein coding sequence of 31 ALS-associated genes were annotated to determine which were rare and deleterious as predicted by MetaSVM. The percentage of patients with SALS with a rare and deleterious variant or repeat expansion in an ALS-associated gene was calculated. An odds ratio analysis was performed comparing the burden of ALS-associated genes in patients with SALS vs 324 normal controls. Nineteen rare nonsynonymous variants in an ALS-associated gene, 2 of which were found in 2 different individuals, were identified in 21 patients with SALS. Further, 5 deleterious C9orf72 and 2 ATXN2 repeat expansions were identified. A total of 17.2% of patients with SALS had a rare and deleterious variant or repeat expansion in an ALS-associated gene. The genetic burden of ALS-associated genes in patients with SALS as predicted by MetaSVM was significantly higher than in normal controls. Previous analyses have identified SALS-predisposing variants only in terms of their rarity in normal control populations. By incorporating variant pathogenicity as well as variant frequency, we demonstrated that the genetic risk contributed by these genes for SALS is substantially lower than previous estimates. © 2017 American Academy of Neurology.

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; Emilion, Gracy

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 id...

The influence of sporadic anovulation on hormone levels in ovulatory cycles

Science.gov (United States)

Hambridge, H.L.; Mumford, S.L.; Mattison, D.R.; Ye, A.; Pollack, A.Z.; Bloom, M.S.; Mendola, P.; Lynch, K.L.; Wactawski-Wende, J.; Schisterman, E.F.

2013-01-01

STUDY QUESTION Do ovulatory hormone profiles among healthy premenopausal women differ between women with and without sporadic anovulation? SUMMARY ANSWER Women with one anovulatory cycle tended to have lower estradiol, progesterone and LH peak levels during their ovulatory cycle. WHAT IS KNOWN ALREADY Anovulation occurs sporadically in healthy premenopausal women, but the influence of hormones in a preceding cycle and the impact on a subsequent cycle's hormone levels is unknown. STUDY DESIGN, SIZE, DURATION The BioCycle Study was a prospective cohort including 250 healthy regularly menstruating women, 18–44 years of age, from Western New York with no history of menstrual or ovulation disorders. The women were followed with up to eight study visits per cycle for two cycles, most of which were consecutive. PARTICIPANTS/MATERIALS, SETTING AND METHODS All study visits were timed to menstrual cycle phase using fertility monitors and located at the University at Buffalo women's health research center from 2005 to 2007. The main outcomes measured were estradiol, progesterone, LH and follicle-stimulating hormone levels in serum at up to 16 visits over two cycles. Anovulation was defined as peak serum progesterone concentrations ≤5 ng/ml and no serum LH peak detected during the mid- or late-luteal phase visit. MAIN RESULTS AND THE ROLE OF CHANCE Reproductive hormone concentrations were lower during anovulatory cycles, but significant reductions were also observed in estradiol (−25%, P = 0.003) and progesterone (−22%, P = 0.001) during the ovulatory cycles of women with one anovulatory cycle compared with women with two ovulatory cycles. LH peak concentrations were decreased in the ovulatory cycle of women with an anovulatory cycle (significant amplitude effect, P = 0.004; geometric mean levels 38% lower, P cycles, and no ultrasound assessment of ovulation was available. Data were missing for a total of 168 of a possible 4072 cycle visits (4.1%), though all women had

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

Science.gov (United States)

Fogh, Isabella; Ratti, Antonia; Gellera, Cinzia; Lin, Kuang; Tiloca, Cinzia; Moskvina, Valentina; Corrado, Lucia; Sorarù, Gianni; Cereda, Cristina; Corti, Stefania; Gentilini, Davide; Calini, Daniela; Castellotti, Barbara; Mazzini, Letizia; Querin, Giorgia; Gagliardi, Stella; Del Bo, Roberto; Conforti, Francesca L.; Siciliano, Gabriele; Inghilleri, Maurizio; Saccà, Francesco; Bongioanni, Paolo; Penco, Silvana; Corbo, Massimo; Sorbi, Sandro; Filosto, Massimiliano; Ferlini, Alessandra; Di Blasio, Anna M.; Signorini, Stefano; Shatunov, Aleksey; Jones, Ashley; Shaw, Pamela J.; Morrison, Karen E.; Farmer, Anne E.; Van Damme, Philip; Robberecht, Wim; Chiò, Adriano; Traynor, Bryan J.; Sendtner, Michael; Melki, Judith; Meininger, Vincent; Hardiman, Orla; Andersen, Peter M.; Leigh, Nigel P.; Glass, Jonathan D.; Overste, Daniel; Diekstra, Frank P.; Veldink, Jan H.; van Es, Michael A.; Shaw, Christopher E.; Weale, Michael E.; Lewis, Cathryn M.; Williams, Julie; Brown, Robert H.; Landers, John E.; Ticozzi, Nicola; Ceroni, Mauro; Pegoraro, Elena; Comi, Giacomo P.; D'Alfonso, Sandra; van den Berg, Leonard H.; Taroni, Franco; Al-Chalabi, Ammar; Powell, John; Silani, Vincenzo; Brescia Morra, Vincenzo; Filla, Alessandro; Massimo, Filosto; Marsili, Angela; Viviana, Pensato; Puorro, Giorgia; La Bella, Vincenzo; Logroscino, Giancarlo; Monsurrò, Maria Rosaria; Quattrone, Aldo; Simone, Isabella Laura; Ahmeti, Kreshnik B.; Ajroud-Driss, Senda; Armstrong, Jennifer; Birve, Anne; Blauw, Hylke M.; Bruijn, Lucie; Chen, Wenjie; Comeau, Mary C.; Cronin, Simon; Soraya, Gkazi Athina; Grab, Josh D.; Groen, Ewout J.; Haines, Jonathan L.; Heller, Scott; Huang, Jie; Hung, Wu-Yen; Jaworski, James M.; Khan, Humaira; Langefeld, Carl D.; Marion, Miranda C.; McLaughlin, Russell L.; Miller, Jack W.; Mora, Gabriele; Pericak-Vance, Margaret A.; Rampersaud, Evadnie; Siddique, Nailah; Siddique, Teepu; Smith, Bradley N.; Sufit, Robert; Topp, Simon; Vance, Caroline; van Vught, Paul; Yang, Yi; Zheng, J.G.

2014-01-01

Identification of mutations at familial loci for amyotrophic lateral sclerosis (ALS) has provided novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease. However, genome-wide association studies (GWAS) of the more common (∼90%) sporadic form have been less successful with the exception of the replicated locus at 9p21.2. To identify new loci associated with disease susceptibility, we have established the largest association study in ALS to date and undertaken a GWAS meta-analytical study combining 3959 newly genotyped Italian individuals (1982 cases and 1977 controls) collected by SLAGEN (Italian Consortium for the Genetics of ALS) together with samples from Netherlands, USA, UK, Sweden, Belgium, France, Ireland and Italy collected by ALSGEN (the International Consortium on Amyotrophic Lateral Sclerosis Genetics). We analysed a total of 13 225 individuals, 6100 cases and 7125 controls for almost 7 million single-nucleotide polymorphisms (SNPs). We identified a novel locus with genome-wide significance at 17q11.2 (rs34517613 with P = 1.11 × 10−8; OR 0.82) that was validated when combined with genotype data from a replication cohort (P = 8.62 × 10−9; OR 0.833) of 4656 individuals. Furthermore, we confirmed the previously reported association at 9p21.2 (rs3849943 with P = 7.69 × 10−9; OR 1.16). Finally, we estimated the contribution of common variation to heritability of sporadic ALS as ∼12% using a linear mixed model accounting for all SNPs. Our results provide an insight into the genetic structure of sporadic ALS, confirming that common variation contributes to risk and that sufficiently powered studies can identify novel susceptibility loci. PMID:24256812

Strong correlation effects on surfaces of topological insulators via holography

Science.gov (United States)

Seo, Yunseok; Song, Geunho; Sin, Sang-Jin

2017-07-01

We investigate the effects of strong correlation on the surface state of a topological insulator (TI). We argue that electrons in the regime of crossover from weak antilocalization to weak localization are strongly correlated, and calculate the magnetotransport coefficients of TIs using the gauge-gravity principle. Then, we examine the magnetoconductivity (MC) formula and find excellent agreement with the data of chrome-doped Bi2Te3 in the crossover regime. We also find that the cusplike peak in MC at low doping is absent, which is natural since quasiparticles disappear due to the strong correlation.

Adverse Effects of Sporadic Dialysis on Body Composition.

Science.gov (United States)

Workeneh, Biruh; Shypailo, Roman; DeCastro, Iris; Shah, Maulin; Guffey, Danielle; Minard, Charles G; Mitch, William E

2015-01-01

The aim of this study is to analyze the body composition of patients receiving emergent dialysis and compare their body cell mass (BCM) and fat-free mass (FFM) with those of normal subjects. The care of patients receiving sporadic, emergent dialysis treatment is a growing public health concern and the magnitude of muscle wasting that occurs in this population is not known. We used a cross-sectional design with matching to determine differences in total body potassium--an indicator of both BCM and FFM--between emergent dialysis patients and healthy normal subjects. We studied 22 subjects using a 40K counter that measures BCM and FFM and compared them to controls after matching with sex, height and weight. In the matched comparison, BCM and FFM were significantly lower in subjects with end-stage renal disease (ESRD). Unadjusted BCM was 4.7 kg lower and FFM was 8.8 kg lower for those with ESRD compared to those without ESRD (p FFM (7.7 kg) in the ESRD subjects (p = 0.004). After adjusting for age, height, weight and gender, BCM and FFM were lower by 4.2 and 7.8 kg, respectively (p FFM loss over time was significant, with the ESRD subjects demonstrating 2.2 kg per year decline (p = 0.01). We conclude that among other consequences, muscle wasting indicated by decline in BCM and FFM is a significant concern in the growing emergent dialysis population. © 2015 S. Karger AG, Basel.

Recurrent RECQL4 Imbalance and Increased Gene Expression Levels Are Associated with Structural Chromosomal Instability in Sporadic Osteosarcoma

Directory of Open Access Journals (Sweden)

Georges Maire

2009-03-01

Full Text Available Osteosarcoma (OS is an aggressive bone tumor with complex abnormal karyotypes and a highly unstable genome, exhibiting both numerical- and structural-chromosomal instability (N- and S-CIN. Chromosomal rearrangements and genomic imbalances affecting 8q24 are frequent in OS. RECQL4 gene maps to this cytoband and encodes a putative helicase involved in the fidelity of DNA replication and repair. This protective genomic function of the protein is relevant because often patients with Rothmund-Thomson syndrome have constitutional mutations of RECQL4 and carry a very high risk of developing OS. To determine the relative level of expression of RECQL4 in OS, 18 sporadic tumors were studied by reverse transcription–polymerase chain reaction. All tumors overexpressed RECQL4 in comparison to control osteoblasts, and fluorescence in situ hybridization analysis of tumor DNA showed that expression levels were strongly copy number–dependent. Relative N- and S-CIN levels were determined by classifying copy number transitions within array comparative genomic hybridization profiles and by enumerating the frequency of break-apart fluorescence in situ hybridization within 8q24 using region-specific and control probes. Although there was no evidence that disruption of 8q24 in OS led to an elevated expression of RECQL4, there was a marked association between increased overall levels of S-CIN, determined by copy number transition frequency and higher levels of RECQL4.

The correlation of local deformation and stress-assisted local phase transformations in MMC foams

Energy Technology Data Exchange (ETDEWEB)

Berek, H., E-mail: harry.berek@ikgb.tu-freiberg.de [TU Bergakademie Freiberg, Agricolastraße 17, D-09599 Freiberg (Germany); Ballaschk, U.; Aneziris, C.G. [TU Bergakademie Freiberg, Agricolastraße 17, D-09599 Freiberg (Germany); Losch, K.; Schladitz, K. [Fraunhofer ITWM, Fraunhoferplatz 1, D-67663 Kaiserslautern (Germany)

2015-09-15

Cellular structures are of growing interest for industry, and are of particular importance for lightweight applications. In this paper, a special case of metal matrix composite foams (MMCs) is investigated. The investigated foams are composed of austenitic steel exhibiting transformation induced plasticity (TRIP) and magnesia partially stabilized zirconia (Mg-PSZ). Both components exhibit martensitic phase transformation during deformation, thus generating the potential for improved mechanical properties such as strength, ductility, and energy absorption capability. The aim of these investigations was to show that stress-assisted phase transformations within the ceramic reinforcement correspond to strong local deformation, and to determine whether they can trigger martensitic phase transformations in the steel matrix. To this end, in situ interrupted compression experiments were performed in an X-ray computed tomography device (XCT). By using a recently developed registration algorithm, local deformation could be calculated and regions of interest could be defined. Corresponding cross sections were prepared and used to analyze the local phase composition by electron backscatter diffraction (EBSD). The results show a strong correlation between local deformation and phase transformation. - Graphical abstract: Display Omitted - Highlights: • In situ compressive deformation on MMC foams was performed in an XCT. • Local deformation fields and their gradient amplitudes were estimated. • Cross sections were manufactured containing defined regions of interest. • Local EBSD phase analysis was performed. • Local deformation and local phase transformation are correlated.

The correlation of local deformation and stress-assisted local phase transformations in MMC foams

International Nuclear Information System (INIS)

Berek, H.; Ballaschk, U.; Aneziris, C.G.; Losch, K.; Schladitz, K.

2015-01-01

Cellular structures are of growing interest for industry, and are of particular importance for lightweight applications. In this paper, a special case of metal matrix composite foams (MMCs) is investigated. The investigated foams are composed of austenitic steel exhibiting transformation induced plasticity (TRIP) and magnesia partially stabilized zirconia (Mg-PSZ). Both components exhibit martensitic phase transformation during deformation, thus generating the potential for improved mechanical properties such as strength, ductility, and energy absorption capability. The aim of these investigations was to show that stress-assisted phase transformations within the ceramic reinforcement correspond to strong local deformation, and to determine whether they can trigger martensitic phase transformations in the steel matrix. To this end, in situ interrupted compression experiments were performed in an X-ray computed tomography device (XCT). By using a recently developed registration algorithm, local deformation could be calculated and regions of interest could be defined. Corresponding cross sections were prepared and used to analyze the local phase composition by electron backscatter diffraction (EBSD). The results show a strong correlation between local deformation and phase transformation. - Graphical abstract: Display Omitted - Highlights: • In situ compressive deformation on MMC foams was performed in an XCT. • Local deformation fields and their gradient amplitudes were estimated. • Cross sections were manufactured containing defined regions of interest. • Local EBSD phase analysis was performed. • Local deformation and local phase transformation are correlated

Strong violations of locality by testing Bell’s inequality with improved entangled-photon systems

International Nuclear Information System (INIS)

Wang Yao; Fan Dai-He; Guo Wei-Jie; Wei Lian-Fu

2015-01-01

Bell’s theorem states that quantum mechanics cannot be accounted for by any local theory. One of the examples is the existence of quantum non-locality is essentially violated by the local Bell’s inequality. Therefore, the violation of Bell’s inequality (BI) has been regarded as one of the robust evidences of quantum mechanics. Until now, BI has been tested by many experiments, but the maximal violation (i.e., Cirel’son limit) has never been achieved. By improving the design of entangled sources and optimizing the measurement settings, in this work we report the stronger violations of the Clauser–Horne–Shimony–Holt (CHSH)-type Bell’s inequality. The biggest value of Bell’s function in our experiment reaches to a significant one: S = 2.772± 0.063, approaching to the so-called Cirel’son limit in which the Bell function value is . Further improvement is possible by optimizing the entangled-photon sources. (paper)

Defining sporadic Creutzfeldt-Jakob disease strains and their transmission properties

Science.gov (United States)

Bishop, Matthew T.; Will, Robert G.; Manson, Jean C.

2010-01-01

The biological determinants of the phenotypic variation in sporadic Creutzfeldt-Jakob disease (sCJD) are unknown. To categorize sCJD cases, the prion protein (PrP) codon 129 genotype and the biochemical characteristics of the disease-associated form of PrP (PrPSc) can be combined to form six subgroups (MM1, MM2, MV1, MV2, VV1, and VV2). This classification largely correlates with the known variation in the clinical and pathological features of sCJD, with the MM1 and MV1 cases representing the “classic” phenotype of sCJD. To address how this classification relates to different strains of sCJD we have inoculated each subgroup of sCJD to a panel of mice expressing different forms of the human PRNP gene (129MM, 129VV, and 129MV). We have established that all subtypes are transmissible to at least one genotype of mouse, and both agent and host factors determine transmission efficiency and the form of PrPSc deposited in the brain. Moreover, we have identified four distinct strains of sCJD using our in vivo strain typing panel. PMID:20547859

STRONG ORACLE OPTIMALITY OF FOLDED CONCAVE PENALIZED ESTIMATION.

Science.gov (United States)

Fan, Jianqing; Xue, Lingzhou; Zou, Hui

2014-06-01

Folded concave penalization methods have been shown to enjoy the strong oracle property for high-dimensional sparse estimation. However, a folded concave penalization problem usually has multiple local solutions and the oracle property is established only for one of the unknown local solutions. A challenging fundamental issue still remains that it is not clear whether the local optimum computed by a given optimization algorithm possesses those nice theoretical properties. To close this important theoretical gap in over a decade, we provide a unified theory to show explicitly how to obtain the oracle solution via the local linear approximation algorithm. For a folded concave penalized estimation problem, we show that as long as the problem is localizable and the oracle estimator is well behaved, we can obtain the oracle estimator by using the one-step local linear approximation. In addition, once the oracle estimator is obtained, the local linear approximation algorithm converges, namely it produces the same estimator in the next iteration. The general theory is demonstrated by using four classical sparse estimation problems, i.e., sparse linear regression, sparse logistic regression, sparse precision matrix estimation and sparse quantile regression.

Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism

Science.gov (United States)

Roberts, Stephanie A.; Moon, Jennifer E.; Dauber, Andrew; Smith, Jessica R.

2018-01-01

Background Primary nonautoimmune hyperthyroidism is a rare cause of neonatal hyperthyroidism. This results from an activating mutation in the thyrotropin-receptor (TSHR). It can be inherited in an autosomal dominant manner or occur sporadically as a de novo mutation. Affected individuals display a wide phenotype from severe neonatal to mild subclinical hyperthyroidism. We describe a 6-month-old boy with a de novo mutation in the TSHR gene who presented with accelerated growth, enlarging head circumference, tremor and thyrotoxicosis. Methods Genomic DNA from the patient’s and parents’ peripheral blood leukocytes was extracted. Exons 9 and 10 of the TSHR gene were amplified by PCR and sequenced. Results Sequencing exon 10 of the TSHR gene revealed a novel heterozygous missense mutation substituting cytosine to adenine at nucleotide position 1534 in the patient’s peripheral blood leukocytes. This leads to a substitution of leucine to methionine at amino acid position 512. The mutation was absent in the parents. In silico modeling by PolyPhen-2 and SIFT predicted the mutation to be deleterious. Conclusions The p.Leu512Met mutation (c.l534C>A) of the TSHR gene has not been previously described in germline or somatic mutations. This case presentation highlights the possibility of mild thyrotoxicosis in affected individuals and contributes to the understanding of sporadic non-autoimmune primary hyperthyroidism. PMID:28195550

Robust MR spine detection using hierarchical learning and local articulated model.

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Zhan, Yiqiang; Maneesh, Dewan; Harder, Martin; Zhou, Xiang Sean

2012-01-01

A clinically acceptable auto-spine detection system, i.e., localization and labeling of vertebrae and inter-vertebral discs, is required to have high robustness, in particular to severe diseases (e.g., scoliosis) and imaging artifacts (e.g. metal artifacts in MR). Our method aims to achieve this goal with two novel components. First, instead of treating vertebrae/discs as either repetitive components or completely independent entities, we emulate a radiologist and use a hierarchial strategy to learn detectors dedicated to anchor (distinctive) vertebrae, bundle (non-distinctive) vertebrae and inter-vertebral discs, respectively. At run-time, anchor vertebrae are detected concurrently to provide redundant and distributed appearance cues robust to local imaging artifacts. Bundle vertebrae detectors provide candidates of vertebrae with subtle appearance differences, whose labels are mutually determined by anchor vertebrae to gain additional robustness. Disc locations are derived from a cloud of responses from disc detectors, which is robust to sporadic voxel-level errors. Second, owing to the non-rigidness of spine anatomies, we employ a local articulated model to effectively model the spatial relations across vertebrae and discs. The local articulated model fuses appearance cues from different detectors in a way that is robust to abnormal spine geometry resulting from severe diseases. Our method is validated by 300 MR spine scout scans and exhibits robust performance, especially to cases with severe diseases and imaging artifacts.

Phase transition transistors based on strongly-correlated materials

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Nakano, Masaki

2013-03-01

The field-effect transistor (FET) provides electrical switching functions through linear control of the number of charges at a channel surface by external voltage. Controlling electronic phases of condensed matters in a FET geometry has long been a central issue of physical science. In particular, FET based on a strongly correlated material, namely ``Mott transistor,'' has attracted considerable interest, because it potentially provides gigantic and diverse electronic responses due to a strong interplay between charge, spin, orbital and lattice. We have investigated electric-field effects on such materials aiming at novel physical phenomena and electronic functions originating from strong correlation effects. Here we demonstrate electrical switching of bulk state of matter over the first-order metal-insulator transition. We fabricated FETs based on VO2 with use of a recently developed electric-double-layer transistor technique, and found that the electrostatically induced carriers at a channel surface drive all preexisting localized carriers of 1022 cm-3 even inside a bulk to motion, leading to bulk carrier delocalization beyond the electrostatic screening length. This non-local switching of bulk phases is achieved with just around 1 V, and moreover, a novel non-volatile memory like character emerges in a voltage-sweep measurement. These observations are apparently distinct from those of conventional FETs based on band insulators, capturing the essential feature of collective interactions in strongly correlated materials. This work was done in collaboration with K. Shibuya, D. Okuyama, T. Hatano, S. Ono, M. Kawasaki, Y. Iwasa, and Y. Tokura. This work was supported by the Japan Society for the Promotion of Science (JSAP) through its ``Funding Program for World-Leading Innovative R&D on Science and Technology (FIRST Program).''

Strong density of a class of simple operators

International Nuclear Information System (INIS)

Somasundaram, S.; Mohammad, N.

1991-08-01

An algebra of simple operators has been shown to be strongly dense in the algebra of all bounded linear operators on function spaces of a compact (not necessarily abelian) group. Further, it is proved that the same result is also true for L 2 (G) if G is a locally compact (not necessarily compact) abelian group. (author). 6 refs

Heterozygous genotype at codon 129 correlates with prolonged disease course in Heidenhain variant sporadic CJD: case report.

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Townley, Ryan A; Dawson, Elliot T; Drubach, Daniel A

2018-02-01

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapid and fatal neurodegenerative disease defined by misfolded prion proteins accumulating in the brain. A minority of cases initially present with posterior cortical atrophy (PCA) phenotype, also known as Heidenhain variant or visual variant CJD. This case provides further evidence of sCJD presenting as PCA. The case also provides evidence for early DWI changes and cortical atrophy over 30 months before neurologic decline and subsequent death. The prolonged disease course correlates with prion protein codon 129 heterozygosity and coexistence of multiple prion strains.

Endangerment of cultural heritage sites by strong rain

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Krauß, Thomas; Fischer, Peter

2017-09-01

Due to climate change extreme weather conditions become more and more frequent in the last years. Especially in Germany nearly every year a large flood event happens. Most of these events are caused by strong rain. There are at most two causes for these floodings: The first is locally strong rain in the area of damage, the second happens at damage sites located near confluxes and strong rain in the upper stream areas of the joining rivers. The amount of damage is often strongly correlated with unreasonable designation of new construction in such endangered regions. Our presented study is based on an earlier project together with a German insurance company. In this project we analyzed correlations of geographical settings with the insurance data of flood damages over ten years. The result of this study was a strong relation of the terrain with the amount and the probability of damages. Further investigations allow us to derive a system for estimating potential endangerment due to strong rain just from suitable digital terrain models (DTMs). In the presented study we apply this method to different types of cultural heritage (CH) sites in Germany and other parts of the world to detect which type of CH sites were build with potential endangerment of strong rain events in mind and which ones are prone to such events.

Some strong limit theorems for nonhomogeneous Markov chains indexed by controlled trees

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Weicai Peng

2016-02-01

Full Text Available Abstract In this paper, a kind of infinite, local finite tree T, named a controlled tree, is introduced. Some strong limit properties, such as the strong law of large numbers and the asymptotic equipartition property, for nonhomogeneous Markov chains indexed by T, are established. The outcomes are the generalizations of some well-known results.

Modeling Late-Onset Sporadic Alzheimer’s Disease through BMI1 Deficiency

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Anthony Flamier

2018-05-01

Full Text Available Late-onset sporadic Alzheimer’s disease (AD is the most prevalent form of dementia, but its origin remains poorly understood. The Bmi1/Ring1 protein complex maintains transcriptional repression of developmental genes through histone H2A mono-ubiquitination, and Bmi1 deficiency in mice results in growth retardation, progeria, and neurodegeneration. Here, we demonstrate that BMI1 is silenced in AD brains, but not in those with early-onset familial AD, frontotemporal dementia, or Lewy body dementia. BMI1 expression was also reduced in cortical neurons from AD patient-derived induced pluripotent stem cells but not in neurons overexpressing mutant APP and PSEN1. BMI1 knockout in human post-mitotic neurons resulted in amyloid beta peptide secretion and deposition, p-Tau accumulation, and neurodegeneration. Mechanistically, BMI1 was required to repress microtubule associated protein tau (MAPT transcription and prevent GSK3beta and p53 stabilization, which otherwise resulted in neurodegeneration. Restoration of BMI1 activity through genetic or pharmaceutical approaches could represent a therapeutic strategy against AD.

Incipient localization and tight-binding superconductivity: Tsub(c) calculation

International Nuclear Information System (INIS)

Kolley, E.; Kolley, W.

1984-01-01

Localization effects on the superconducting transition temperature Tsub(c) are examined in strongly disordered three-dimensional systems. A tight-binding formulation of strong-coupling superconductivity is combined, after configuration averaging, with the self-consistent treatment of Anderson localization developed by Vollhardt and Woelfle. The Coulomb interaction becomes retarded via the joint local local density of states, giving rise to an enhancement of the pseudopotential. Numerical Tsub(c) results as a function of disorder are compared with another theoretical work and experimental values for some high-Tsub(c) materials. (orig.)

The subcatchment- and catchment-scale hydrology of a boreal headwater peatland complex with sporadic permafrost.

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Sonnentag, O.; Helbig, M.; Connon, R.; Hould Gosselin, G.; Ryu, Y.; Karoline, W.; Hanisch, J.; Moore, T. R.; Quinton, W. L.

2017-12-01

The permafrost region of the Northern Hemisphere has been experiencing twice the rate of climate warming compared to the rest of the Earth, resulting in the degradation of the cryosphere. A large portion of the high-latitude boreal forests of northwestern Canada grows on low-lying organic-rich lands with relative warm and thin isolated, sporadic and discontinuous permafrost. Along this southern limit of permafrost, increasingly warmer temperatures have caused widespread permafrost thaw leading to land cover changes at unprecedented rates. A prominent change includes wetland expansion at the expense of Picea mariana (black spruce)-dominated forest due to ground surface subsidence caused by the thawing of ice-rich permafrost leading to collapsing peat plateaus. Recent conceptual advances have provided important new insights into high-latitude boreal forest hydrology. However, refined quantitative understanding of the mechanisms behind water storage and movement at subcatchment and catchment scales is needed from a water resources management perspective. Here we combine multi-year daily runoff measurements with spatially explicit estimates of evapotranspiration, modelled with the Breathing Earth System Simulator, to characterize the monthly growing season catchment scale ( 150 km2) hydrological response of a boreal headwater peatland complex with sporadic permafrost in the southern Northwest Territories. The corresponding water budget components at subcatchment scale ( 0.1 km2) were obtained from concurrent cutthroat flume runoff and eddy covariance evapotranspiration measurements. The highly significant linear relationships for runoff (r2=0.64) and evapotranspiration (r2=0.75) between subcatchment and catchment scales suggest that the mineral upland-dominated downstream portion of the catchment acts hydrologically similar to the headwater portion dominated by boreal peatland complexes. Breakpoint analysis in combination with moving window statistics on multi

A comparison between Lynch syndrome and sporadic colorectal cancer survivors' satisfaction with their healthcare providers.

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Burton-Chase, Allison M; Parker, Wendy M; Polivka, Katrina M; Gritz, Ellen R; Amos, Christopher I; Lu, Karen H; Lynch, Patrick M; Rodriguez-Bigas, Miguel A; Nancy You, Y; Peterson, Susan K

2017-03-01

This study evaluated provider satisfaction in a sample of colorectal cancer (CRC) survivors with and without Lynch syndrome (LS). Participants were case-case-matched CRC survivors with (n = 75) or without (n = 75) LS (mean age of 55; range: 27-93). Participants completed a mailed questionnaire assessing demographics, clinical characteristics, healthcare utilization, psychosocial variables, and provider satisfaction. LS CRC survivors reported lower provider satisfaction scores on three subscales of the Primary Care Assessment Survey: communication (78.14 vs. 83.96; P < 0.05), interpersonal treatment (78.58 vs. 85.30; P < 0.05), and knowledge of the patient (60.34 vs. 69.86; P < 0.01). Among LS CRC survivors, predictors for mean communication and trust subscale scores were location of treatment and socioeconomic status. Higher mean depression scores also were associated with trust, while social support predicted higher satisfaction with communication. Sporadic CRC survivor satisfaction is driven largely by age (communication, interpersonal treatment) and patient anxiety (communication), while seeing a provider more often was associated with increased satisfaction with knowledge of the patient. LS CRC survivors reported lower levels of provider satisfaction than sporadic CRC survivors. LS survivors who received care at The University of Texas MD Anderson Cancer Center, a comprehensive cancer center (CCC), reported higher satisfaction than those receiving care at other institutions. Depressive symptoms and socioeconomic status may impact provider satisfaction ratings. Exploration of other potential predictors of provider satisfaction should be examined in this population. Additionally, further research is needed to examine the potential impact of provider satisfaction on adherence to medical recommendations in LS CRC survivors, particularly those being treated outside of CCCs. © 2017 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

CAMS newly detected meteor showers and the sporadic background

Science.gov (United States)

Jenniskens, P.; Nénon, Q.; Gural, P. S.; Albers, J.; Haberman, B.; Johnson, B.; Morales, R.; Grigsby, B. J.; Samuels, D.; Johannink, C.

2016-03-01

The Cameras for Allsky Meteor Surveillance (CAMS) video-based meteoroid orbit survey adds 60 newly identified showers to the IAU Working List of Meteor Showers (numbers 427, 445-446, 506-507, and part of 643-750). 28 of these are also detected in the independent SonotaCo survey. In total, 230 meteor showers and shower components are identified in CAMS data, 177 of which are detected in at least two independent surveys. From the power-law size frequency distribution of detected showers, we extrapolate that 36% of all CAMS-observed meteors originated from ∼700 showers above the N = 1 per 110,000 shower limit. 71% of mass falling to Earth from streams arrives on Jupiter-family type orbits. The transient Geminids account for another 15%. All meteoroids not assigned to streams form a sporadic background with highest detected numbers from the apex source, but with 98% of mass falling in from the antihelion source. Even at large ∼7-mm sizes, a Poynting-Robertson drag evolved population is detected, which implies that the Grün et al. collisional lifetimes at these sizes are underestimated by about a factor of 10. While these large grains survive collisions, many fade on a 104-y timescale, possibly because they disintegrate into smaller particles by processes other than collisions, leaving a more resilient population to evolve.

Sporadic Creutzfeldt–Jakob disease with cerebellar ataxia at onset in the UK

Science.gov (United States)

Cooper, S A; Murray, K L; Heath, C A; Will, R G; Knight, R S G

2006-01-01

Objective To determine the frequency, in the UK, of sporadic Creutzfeldt–Jakob Disease (sCJD) with a cerebellar ataxic onset, and to describe the clinical features of the syndrome. Methods A retrospective review of autopsy‐proved cases of sCJD cases in the UK, 1990–2005, identifying those presenting with cerebellar features without early cognitive decline. Results 29 of 618 (5%) patients with sCJD had an isolated cerebellar onset. Mean illness duration was 9 months. Subsequently, 21 (72%) developed myoclonus and 23 (79%) developed pyramidal features. Magnetic resonance imaging showed high signal in the basal ganglia in 11 of 14 (79%) patients. 7 of 15 (47%) patients were valine homozygotic at prion protein gene (PRNP)‐129. Only 8 (28%) cases were referred to the surveillance unit after death. Conclusion A better definition of sCJD presenting with an isolated cerebellar syndrome might improve future case recognition and contribute to the determination of its cause. PMID:16835290

Wernicke-Korsakoff syndrome as a rare phenotype of sporadic Creutzfeldt-Jakob disease.

Science.gov (United States)

Bielewicz, Joanna; Szczepańska-Szerej, Anna; Ogórek, Magdalena; Dropko, Piotr; Wojtal, Katarzyna; Rejdak, Konrad

2018-03-04

We reported the case of a patient with Wernicke-Korsakoff syndrome (WKs) as an early clinical manifestation of sporadic Creutzfeld-Jakob disease (sCJD). The 66-year-old female complained of dizziness and imbalance which mostly occurred while walking. A neurological examination revealed a triad of symptoms characteristic for WKs such as gaze paresis, ataxia of limbs and trunk as well as memory disturbances with confabulations. The disturbances increased during the course of the disease, which led to the death of the patient four months after the appearance of the signs. The patient was finally diagnosed with sCJD disease. The most useful ancillary examination results supporting sCJD diagnosis were brain diffusion DWI MRI (diffusion weighted magnetic resonance imaging) and the presence of 14-3-3 protein in CSF (cerebrospinal fluid). Since that manifestation of sCJD is very unique other causes should be taken into consideration while making a final diagnosis.

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

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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.

Clinical Perspective of Oxidative Stress in Sporadic ALS

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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 elevated, suggesting that abnormal oxidative stress is generated outside of the central nervous system. Our review indicates that agricultural chemicals, heavy metals, military service, professional sports, excessive physical exertion, chronic head trauma, and certain foods might be modestly associated with ALS risk, with a stronger association between risk and smoking. At the cellular level, these factors are all involved in generating oxidative stress. Experimental studies indicate that a combination of insults that induce modest oxidative stress can exert additive deleterious effects on motor neurons, suggesting multiple exposures in real-world environments are important. As the disease progresses, nutritional deficiency, cachexia, psychological stress, and impending respiratory failure may further increase oxidative stress. Moreover, accumulating evidence suggests that ALS is possibly a systemic disease. Laboratory, pathologic, and epidemiologic evidence clearly support the hypothesis that oxidative stress is central in the pathogenic process, particularly in genetically susceptive individuals. If we are to improve ALS treatment, well-designed biochemical and genetic epidemiological studies, combined with a multidisciplinary research approach, are needed and will provide knowledge crucial to our understanding of ALS etiology, pathophysiology, and prognosis. PMID:23797033

Transposons and integrons in colistin-resistant clones of Klebsiella pneumoniae and Acinetobacter baumannii with epidemic or sporadic behaviour.

Science.gov (United States)

Arduino, Sonia M; Quiroga, María Paula; Ramírez, María Soledad; Merkier, Andrea Karina; Errecalde, Laura; Di Martino, Ana; Smayevsky, Jorgelina; Kaufman, Sara; Centrón, Daniela

2012-10-01

Multiple transposons, integrons and carbapenemases were found in Klebsiella pneumoniae colistin-resistant isolates as well as a genomic resistance island of the AbaR type in Acinetobacter baumannii colistin-resistant isolates from different hospitals from Buenos Aires City. PFGE analysis showed a polyclonal dissemination of antimicrobial resistance mechanisms among K. pneumoniae isolates, while in A. baumannii isolates the epidemic clone 1 from South America was found. Resistance determinants associated with horizontal gene transfer are contributing to the evolution to pandrug resistance in both epidemic and sporadic clones.

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

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X.-K. Dou

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.

The Southern Argentina Agile Meteor Radar Orbital System (SAAMER-OS): An Initial Sporadic Meteoroid Orbital Survey in the Southern Sky

Science.gov (United States)

Janches, D.; Close, S.; Hormaechea, J. L.; Swarnalingam, N.; Murphy, A.; O'Connor, D.; Vandepeer, B.; Fuller, B.; Fritts, D. C.; Brunini, C.

2015-01-01

We present an initial survey in the southern sky of the sporadic meteoroid orbital environment obtained with the Southern Argentina Agile MEteor Radar (SAAMER) Orbital System (OS), in which over three-quarters of a million orbits of dust particles were determined from 2012 January through 2015 April. SAAMER-OS is located at the southernmost tip of Argentina and is currently the only operational radar with orbit determination capability providing continuous observations of the southern hemisphere. Distributions of the observed meteoroid speed, radiant, and heliocentric orbital parameters are presented, as well as those corrected by the observational biases associated with the SAAMER-OS operating parameters. The results are compared with those reported by three previous surveys performed with the Harvard Radio Meteor Project, the Advanced Meteor Orbit Radar, and the Canadian Meteor Orbit Radar, and they are in agreement with these previous studies. Weighted distributions for meteoroids above the thresholds for meteor trail electron line density, meteoroid mass, and meteoroid kinetic energy are also considered. Finally, the minimum line density and kinetic energy weighting factors are found to be very suitable for meteoroid applications. The outcomes of this work show that, given SAAMERs location, the system is ideal for providing crucial data to continuously study the South Toroidal and South Apex sporadic meteoroid apparent sources.

Strong versions of Bell's theorem

International Nuclear Information System (INIS)

Stapp, H.P.

1994-01-01

Technical aspects of a recently constructed strong version of Bell's theorem are discussed. The theorem assumes neither hidden variables nor factorization, and neither determinism nor counterfactual definiteness. It deals directly with logical connections. Hence its relationship with modal logic needs to be described. It is shown that the proof can be embedded in an orthodox modal logic, and hence its compatibility with modal logic assured, but that this embedding weakens the theorem by introducing as added assumptions the conventionalities of the particular modal logic that is adopted. This weakening is avoided in the recent proof by using directly the set-theoretic conditions entailed by the locality assumption

Clinical and Genetic Aspects of Sporadic Non-Medullar Thyroid Cancer

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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, PPARγ. 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, 3р26. 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.

Co-existence of scrapie prion protein types 1 and 2 in sporadic Creutzfeldt-Jakob disease: its effect on the phenotype and prion-type characteristics

NARCIS (Netherlands)

Cali, I.; Castellani, R.; Alshekhlee, A.; Cohen, Y.; Blevins, J.; Yuan, J.; Langeveld, J.P.M.; Parchi, P.; Safar, J.G.; Zou, W.Q.; Gambetti, P.

2009-01-01

Five phenotypically distinct subtypes have been identified in sporadic Creutzfeldt-Jakob disease (sCJD), based on the methionine/valine polymorphic genotype of codon 129 of the prion protein (PrP) gene and the presence of either one of the two protease K-resistant scrapie prion protein (PrPSc) types

Local equilibrium

Energy Technology Data Exchange (ETDEWEB)

Anon.

1984-12-15

From 3-6 September the First International Workshop on Local Equilibrium in Strong Interaction Physics took place in Bad-Honnef at the Physics Centre of the German Physical Society. A number of talks covered the experimental and theoretical investigation of the 'hotspots' effect, both in high energy particle physics and in intermediate energy nuclear physics.

Discriminative deep inelastic tests of strong interaction field theories

International Nuclear Information System (INIS)

Glueck, M.; Reya, E.

1979-02-01

It is demonstrated that recent measurements of F 2 (x,Q 2 ) dx eliminate already all strong interaction field theories which do not include colored quarks as well as colored vector gluons. Detailed studies of scaling violations in F 2 (x,Q 2 ) cannot discriminate between a local gauge invariant theory (QCD) and one which has no local color gauge invariance, i.e. no triple-gluon coupling. This implies that all calculations on scaling violations done so far are insensitive to the gluon self-coupling, the latter might perhaps be delineated with future ep colliding beam facilities. (orig.) [de

Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

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Modibo Sangare

2016-06-01

Conclusion: Because of the short survival time of our patients, family histories and sample DNA for testing were not done. However, our results show that sporadic ALS is of earlier onset and shorter survival time as compared to patients elsewhere. We plan to establish a network of neurologists and researchers for early screening of ALS.

Finite strain logarithmic hyperelasto-plasticity with softening: a strongly non-local implicit gradient framework

NARCIS (Netherlands)

Geers, M.G.D.

2004-01-01

This paper addresses the extension of a Eulerian logarithmic finite strain hyperelasto-plasticity model in order to incorporate an isotropic plastic damage variable that leads to softening and failure of the plastic material. It is shown that a logarithmic elasto-plastic model with a strongly

Developmental Local Government as a Model for Grassroots Socio ...

African Journals Online (AJOL)

In the past five decades of political independence in Nigeria, local ... governments places a strong limitation on local autonomy and governance at the local level. ... negatively affecting grassroots socio-economic development in the Country.

Strong converse theorems using Rényi entropies

Energy Technology Data Exchange (ETDEWEB)

Leditzky, Felix; Datta, Nilanjana [Statistical Laboratory, Centre for Mathematical Sciences, University of Cambridge, Cambridge CB3 0WB (United Kingdom); Wilde, Mark M. [Department of Physics and Astronomy, Center for Computation and Technology, Hearne Institute for Theoretical Physics, Louisiana State University, Baton Rouge, Louisiana 70803 (United States)

2016-08-15

We use a Rényi entropy method to prove strong converse theorems for certain information-theoretic tasks which involve local operations and quantum (or classical) communication between two parties. These include state redistribution, coherent state merging, quantum state splitting, measurement compression with quantum side information, randomness extraction against quantum side information, and data compression with quantum side information. The method we employ in proving these results extends ideas developed by Sharma [preprint http://arxiv.org/abs/1404.5940 [quant-ph] (2014)], which he used to give a new proof of the strong converse theorem for state merging. For state redistribution, we prove the strong converse property for the boundary of the entire achievable rate region in the (e, q)-plane, where e and q denote the entanglement cost and quantum communication cost, respectively. In the case of measurement compression with quantum side information, we prove a strong converse theorem for the classical communication cost, which is a new result extending the previously known weak converse. For the remaining tasks, we provide new proofs for strong converse theorems previously established using smooth entropies. For each task, we obtain the strong converse theorem from explicit bounds on the figure of merit of the task in terms of a Rényi generalization of the optimal rate. Hence, we identify candidates for the strong converse exponents for each task discussed in this paper. To prove our results, we establish various new entropic inequalities, which might be of independent interest. These involve conditional entropies and mutual information derived from the sandwiched Rényi divergence. In particular, we obtain novel bounds relating these quantities, as well as the Rényi conditional mutual information, to the fidelity of two quantum states.

Cerebrospinal fluid tau levels are a marker for molecular subtype in sporadic Creutzfeldt-Jakob disease.

Science.gov (United States)

Karch, André; Hermann, Peter; Ponto, Claudia; Schmitz, Matthias; Arora, Amandeep; Zafar, Saima; Llorens, Franc; Müller-Heine, Annika; Zerr, Inga

2015-05-01

The molecular subtype of sporadic Creutzfeldt-Jakob disease (sCJD) is an important prognostic marker for patient survival. However, subtype determination is not possible during lifetime. Because the rate of disease progression is associated with the molecular subtype, this study aimed at investigating if total tau, a marker of neuronal death, allows premortem diagnosis of molecular subtype when codon 129 genotype is known. Two hundred ninety-six sCJD patients were tested for their cerebrospinal fluid total tau level at the time of diagnosis and were investigated for their sCJD subtype postmortem. There was a significant association between tau levels and the prion protein type in patients with codon 129 MM (p disease. Copyright © 2015 Elsevier Inc. All rights reserved.

[Lung transplantation in sporadic lymphangioleiomyomatosis: study of 7 cases].

Science.gov (United States)

Ansótegui Barrera, Emilio; Mancheño Franch, Nuria; Peñalver Cuesta, Juan Carlos; Vera-Sempere, Francisco; Padilla Alarcón, José

2013-10-19

Sporadic lymphangioleiomyomatosis (S-LAM) is a rare disease that affects only women. It is characterized by an abnormal proliferation of immature smooth muscle cells (LAM cells) that grow in an aberrant manner in the airway, parenchymal lung lymph and blood vessels, determining the onset of pulmonary cystic lesions. The disease has no treatment, progressing to respiratory failure, and lung transplantation (LT) may be a treatment option at this stage. Our goal was to study 7 patients undergoing LT for S-LAM. We studied a series of clinical and demographic characteristics, diagnostic modality and post-transplant outcomes. We performed a descriptive analysis of the series. The Kaplan-Meier method was used to estimate survival. The mean age of onset of symptoms was 35 years, the diagnosis of 37 years and that of LT 38 years. The most common symptom was dyspnea. Four patients had a history of pneumothorax and pleural effusion. The mean forced expiratory volume in one second was 32.7% and the diffusing capacity for carbon monoxide was 29%. All patients were subjected to LT and survival was 100, 85.7 and 57.1% at one, 3 and 5 years, respectively. Three died of bronchiolitis obliterans and 2 necropsies did not show evidence of disease recurrence. LT is a therapeutic option in patients with S-LAM with an advanced respiratory functional impairment. Copyright © 2013 Elsevier España, S.L. All rights reserved.

Strong coupling between bi-dimensional electron gas and nitrogen localized states in heavily doped GaAs1-xN x structures

International Nuclear Information System (INIS)

Hamdouni, A.; Bousbih, F.; Ben Bouzid, S.; Oueslati, M.; Chtourou, R.; Harmand, J.C.

2005-01-01

We report a low-temperature photoluminescence spectra (LTPL) of GaAs 1-x N x layers and two-dimension electron gas (2DEG) GaAs 1-x N x /AlGaAs modulation doped heterostructure grown on GaAs substrates by molecular beam epitaxy (MBE) with low nitrogen content [N] = 2 x 10 18 cm -3 . At low temperature, PL spectra of GaAs 1-x N x layers are governed by several features associate to the excitons bound to nitrogen complexes, these features disappear in (2DEG) GaAs 1-x N x /AlGaAs modulation doped heterostructure and the PL peak energy decrease with the laser power excitation. This effect is explained by the strongly coupling of the (2DEG) fundamental state with the nitrogen localized states. An activated energy of about 55 meV is deduced by photoluminescence measurements in the 10-300 K range for a laser power excitation P = 6 W/cm 2

Peripheral Tissue Involvement in Sporadic, Iatrogenic, and Variant Creutzfeldt-Jakob Disease

Science.gov (United States)

Head, Mark W.; Ritchie, Diane; Smith, Nadine; McLoughlin, Victoria; Nailon, William; Samad, Sazia; Masson, Stephen; Bishop, Matthew; McCardle, Linda; Ironside, James W.

2004-01-01

Human prion diseases are rare fatal neurodegenerative conditions that occur as acquired, familial, or idiopathic disorders. A key event in their pathogenesis is the accumulation of an altered form of the prion protein, termed PrPSc, in the central nervous system. A novel acquired human prion disease, variant Creutzfeldt-Jakob disease, is thought to result from oral exposure to the bovine spongiform encephalopathy agent. This disease differs from other human prion diseases in its neurological, neuropathological, and biochemical phenotype. We have used immunohistochemistry and Western blot techniques to analyze the tissue distribution and biochemical properties of PrPSc in peripheral tissues in a unique series of nine cases of variant Creutzfeldt-Jakob disease. We have compared this with the distribution and biochemical forms found in all of the major subtypes of sporadic Creutzfeldt-Jakob disease and in a case of iatrogenic Creutzfeldt-Jakob disease associated with growth hormone therapy. The results show that involvement of the lymphoreticular system is a defining feature of variant Creutzfeldt-Jakob disease, but that the biochemical isoform of PrPSc found is influenced by the cell type in which it accumulates. PMID:14695328

Computed tomographic features of 23 sporadic cases with Legionella pneumophila pneumonia

International Nuclear Information System (INIS)

Yu Hui; Higa, Futoshi; Hibiya, Kenji; Furugen, Makoto; Sato, Yoko; Shinzato, Takashi; Haranaga, Shusaku; Yara, Satomi; Tateyama, Masao; Fujita, Jiro; Li, Huiping

2010-01-01

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

Computed tomographic features of 23 sporadic cases with Legionella pneumophila pneumonia

Energy Technology Data Exchange (ETDEWEB)

Yu Hui [Department of Respiratory Diseases, Shanghai Pneumology Hospital, Tongji University, Shanghai (China); Higa, Futoshi; Hibiya, Kenji; Furugen, Makoto [Department of Medicine and Therapeutics, Control and Prevention of Infectious Diseases (First Department of Internal Medicine), Faculty of Medicine, University of the Ryukyus, Okinawa (Japan); Sato, Yoko [Tomishiro Chuo Hospital, Okinawa (Japan); Shinzato, Takashi [Nakagami General Hospital, Okinawa (Japan); Haranaga, Shusaku; Yara, Satomi; Tateyama, Masao [Department of Medicine and Therapeutics, Control and Prevention of Infectious Diseases (First Department of Internal Medicine), Faculty of Medicine, University of the Ryukyus, Okinawa (Japan); Fujita, Jiro, E-mail: fujita@med.u-ryukyu.ac.j [Department of Medicine and Therapeutics, Control and Prevention of Infectious Diseases (First Department of Internal Medicine), Faculty of Medicine, University of the Ryukyus, Okinawa (Japan); Li, Huiping [Department of Respiratory Diseases, Shanghai Pneumology Hospital, Tongji University, Shanghai (China)

2010-06-15

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

Chaos-assisted tunneling in the presence of Anderson localization.

Science.gov (United States)

Doggen, Elmer V H; Georgeot, Bertrand; Lemarié, Gabriel

2017-10-01

Tunneling between two classically disconnected regular regions can be strongly affected by the presence of a chaotic sea in between. This phenomenon, known as chaos-assisted tunneling, gives rise to large fluctuations of the tunneling rate. Here we study chaos-assisted tunneling in the presence of Anderson localization effects in the chaotic sea. Our results show that the standard tunneling rate distribution is strongly modified by localization, going from the Cauchy distribution in the ergodic regime to a log-normal distribution in the strongly localized case, for both a deterministic and a disordered model. We develop a single-parameter scaling description which accurately describes the numerical data. Several possible experimental implementations using cold atoms, photonic lattices, or microwave billiards are discussed.

Wave propagation in a strongly nonlinear locally resonant granular crystal

Science.gov (United States)

Vorotnikov, K.; Starosvetsky, Y.; Theocharis, G.; Kevrekidis, P. G.

2018-02-01

In this work, we study the wave propagation in a recently proposed acoustic structure, the locally resonant granular crystal. This structure is composed of a one-dimensional granular crystal of hollow spherical particles in contact, containing linear resonators. The relevant model is presented and examined through a combination of analytical approximations (based on ODE and nonlinear map analysis) and of numerical results. The generic dynamics of the system involves a degradation of the well-known traveling pulse of the standard Hertzian chain of elastic beads. Nevertheless, the present system is richer, in that as the primary pulse decays, secondary ones emerge and eventually interfere with it creating modulated wavetrains. Remarkably, upon suitable choices of parameters, this interference "distills" a weakly nonlocal solitary wave (a "nanopteron"). This motivates the consideration of such nonlinear structures through a separate Fourier space technique, whose results suggest the existence of such entities not only with a single-side tail, but also with periodic tails on both ends. These tails are found to oscillate with the intrinsic oscillation frequency of the out-of-phase motion between the outer hollow bead and its internal linear attachment.

The strong Bell inequalities: A proposed experimental test

Science.gov (United States)

Fry, Edward S.

1994-01-01

All previous experimental tests of Bell inequalities have required additional assumptions. The strong Bell inequalities (i.e. those requiring no additional assumptions) have never been tested. An experiment has been designed that can, for the first time, provide a definitive test of the strong Bell inequalities. Not only will the detector efficiency loophole be closed; but the locality condition will also be rigorously enforced. The experiment involves producing two Hg-199 atoms by a resonant Raman dissociation of a mercury dimer ((199)Hg2) that is in an electronic and nuclear spin singlet state. Bell inequalities can be tested by measuring angular momentum correlations between the spin one-half nuclei of the two Hg-199 atoms. The method used to make these latter measurements will be described.

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

DEFF Research Database (Denmark)

Raitila, A; Georgitsi, M; Karhu, A

2007-01-01

. Here, we have analyzed 32 pituitary adenomas and 79 other tumors of the endocrine system for somatic AIP mutations by direct 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...... 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...

Generation of an integration-free induced pluripotent stem cell line (CSC-43 from a patient with sporadic Parkinson's disease

Directory of Open Access Journals (Sweden)

Ana Marote

2018-03-01

Full Text Available An induced pluripotent stem cell (iPSC line was generated from a 36-year-old patient with sporadic Parkinson's disease (PD. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line (CSC-43 exhibits expression of common pluripotency markers, in vitro differentiation into three germ layers and normal karyotype. This iPSC line can be used to study the mechanisms underlying the development of PD.

Four Sporadic Pediatric Cases of Yersinia enterocolitica O:8 Infection in a Rural Area of Japan.

Science.gov (United States)

Minami, Kisei; Yasuda, Ryu; Terakawa, Runa; Koike, Yumi; Takeuchi, Koichi; Higuchi, Tsukasa; Horiuchi, Ayaka; Kubota, Noriko; Hidaka, Eiko; Kawakami, Yoshiyuki

2017-03-24

In the spring of 2015, we experienced a cluster of 4 sporadic cases of yersiniosis in children in Nagano prefecture, a rural area of Japan. Two patients developed appendicitis-like episodes; one had acute gastroenteritis, and the other had bacteremia associated with liver abscess. The causative agent of these infections was Yersinia enterocolitica serogroup O:8. None of the patients had an underlying illness, and all have recovered completely. The patients were neither socially nor geographically related to each other. These 4 consecutive cases suggest that Y. enterocolitica O:8 has spread substantially in the middle part of Japan, and that this virulent strain might be more common than previously reported in our country.

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

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Bourdon Violaine

2011-01-01

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

Herpes Simplex Virus Type 1 and Other Pathogens are Key Causative Factors in Sporadic Alzheimer’s Disease

Science.gov (United States)

Harris, Steven A.; Harris, Elizabeth A.

2015-01-01

Abstract This review focuses on research in epidemiology, neuropathology, molecular biology, and genetics regarding the hypothesis that pathogens interact with susceptibility genes and are causative in sporadic Alzheimer’s disease (AD). Sporadic AD is a complex multifactorial neurodegenerative disease with evidence indicating coexisting multi-pathogen and inflammatory etiologies. There are significant associations between AD and various pathogens, including Herpes simplex virus type 1 (HSV-1), Cytomegalovirus, and other Herpesviridae, Chlamydophila pneumoniae, spirochetes, Helicobacter pylori, and various periodontal pathogens. These pathogens are able to evade destruction by the host immune system, leading to persistent infection. Bacterial and viral DNA and RNA and bacterial ligands increase the expression of pro-inflammatory molecules and activate the innate and adaptive immune systems. Evidence demonstrates that pathogens directly and indirectly induce AD pathology, including amyloid-β (Aβ) accumulation, phosphorylation of tau protein, neuronal injury, and apoptosis. Chronic brain infection with HSV-1, Chlamydophila pneumoniae, and spirochetes results in complex processes that interact to cause a vicious cycle of uncontrolled neuroinflammation and neurodegeneration. Infections such as Cytomegalovirus, Helicobacter pylori, and periodontal pathogens induce production of systemic pro-inflammatory cytokines that may cross the blood-brain barrier to promote neurodegeneration. Pathogen-induced inflammation and central nervous system accumulation of Aβ damages the blood-brain barrier, which contributes to the pathophysiology of AD. Apolipoprotein E4 (ApoE4) enhances brain infiltration by pathogens including HSV-1 and Chlamydophila pneumoniae. ApoE4 is also associated with an increased pro-inflammatory response by the immune system. Potential antimicrobial treatments for AD are discussed, including the rationale for antiviral and antibiotic clinical trials. PMID

Medical Procedures and Risk for Sporadic Creutzfeldt-Jakob Disease, Japan, 1999–2008

Science.gov (United States)

Hamaguchi, Tsuyoshi; Noguchi-Shinohara, Moeko; Nozaki, Ichiro; Nakamura, Yosikazu; Sato, Takeshi; Kitamoto, Tetsuyuki; Mizusawa, Hidehiro

2009-01-01

To elucidate the association between medical procedures and sporadic Creutzfeldt-Jakob disease (sCJD), we analyzed medical procedures (any surgical procedure, neurosurgery, ophthalmic surgery, and blood transfusion) for patients registered by the CJD Surveillance Committee in Japan during 1999–2008. We conducted an age-stratified case–control study with 753 sCJD patients and 210 controls and a study of patients who underwent neurosurgical or ophthalmic surgical procedures at the same hospital. Although the control group was relatively small, no evidence was found that prion disease was transmitted through the investigated medical procedures before onset of sCJD. After onset of sCJD, 4.5% of the sCJD patients underwent operations, including neurosurgical for 0.8% and ophthalmic for 1.9%; no special precautions against transmission of prion diseases were taken. Fortunately, we have not identified patients with prion disease attributed to these operations. Our findings indicate that surgical procedures or blood transfusion had little effect on the incidence of sCJD. PMID:19193271

Laminar Distribution of the Pathological Changes in Sporadic and Variant Creutzfeldt-Jakob Disease

Directory of Open Access Journals (Sweden)

R. A. Armstrong

2011-01-01

Full Text Available The laminar distributions of the pathological changes in the cerebral cortex were compared in the prion diseases sporadic Creutzfeldt-Jakob disease (sCJD and variant CJD (vCJD. First, in some cortical regions, the vacuolation (“spongiform change” was more generally distributed across the cortex in sCJD. Second, there was greater neuronal loss in the upper cortex in vCJD and in the lower cortex in sCJD. Third, the “diffuse” and “florid” prion protein (PrPsc deposits were more frequently distributed in the upper cortex in vCJD and the “synaptic” deposits in the lower cortex in sCJD. Fourth, there was a significant gliosis mainly affecting the lower cortex of both disorders. The data suggest that the pattern of cortical degeneration is different in sCJD and vCJD which may reflect differences in aetiology and the subsequent spread of prion pathology within the brain.

Sporadic lower motor neuron disease with a snake eyes appearance on the cervical anterior horns by MRI.

Science.gov (United States)

Sasaki, Shoichi

2015-09-01

Lower motor neuron disease (LMND) is the term generally used to describe diseases in which only lower motor neuron signs are detected. A snake eyes appearance on magnetic resonance imaging (MRI) is associated with a wide spectrum of neurological conditions including LMND. The author reports on three unique LMND patients with upper limb muscle weakness and atrophy who show a snake eyes appearance by MRI. The patients were aged 18, 40 and 52 years, respectively, at the onset of the disease and had a longstanding clinical course (more than 10 years for two patients and 8 years for one patient). They were followed up for more than 6 years. Clinical manifestations were characterized by (1) longstanding slow progression or delayed spontaneous arrest of asymmetric lower motor neuron signs localized exclusively in the upper extremities with unilateral predominance and distal or proximal preponderance; (2) the absence of upper motor neuron signs, bulbar signs, sensory disturbances and respiratory involvement; (3) a snake eyes appearance on the anterior horns of the cervical cord over more than 3 vertebrae by axial T2-weighted MRI and a longitudinal linear-shaped T2-signal hyperintensity by sagittal MRI; (4) neurogenic change with fasciculation and denervation potentials (fibrillation and a positive sharp wave) confined to the affected muscles by needle electromyogram; and (5) normal cerebrospinal fluid and a normal creatine kinase level. These cases did not fall into any existing category of LMND, such as progressive muscular atrophy, flail arm syndrome or Hirayama disease. These patients should be classified as sporadic LMND with snake eyes on MRI with a relatively benign prognosis. Copyright © 2015 Elsevier B.V. All rights reserved.

THE SOUTHERN ARGENTINA AGILE METEOR RADAR ORBITAL SYSTEM (SAAMER-OS): AN INITIAL SPORADIC METEOROID ORBITAL SURVEY IN THE SOUTHERN SKY

Energy Technology Data Exchange (ETDEWEB)

Janches, D.; Swarnalingam, N. [Space Weather Laboratory, Mail Code 674, NASA Goddard Space Flight Center, Greenbelt, MD 20771 (United States); Close, S. [Space Environment and Satellite Systems Laboratory, Department of Aeronautics and Astronautics, Stanford University, Palo Alto, CA (United States); Hormaechea, J. L. [Estacion Astronomica Rio Grande, Rio Grande, Tierra del Fuego (Argentina); Murphy, A.; O’Connor, D.; Vandepeer, B.; Fuller, B. [Genesis Software Pty Ltd, Adelaide (Australia); Fritts, D. C. [GATS Inc., Boulder CO (United States); Brunini, C., E-mail: diego.janches@nasa.gov, E-mail: nimalan.swarnalingam@nasa.gov, E-mail: sigridc@stanford.edu, E-mail: jlhormaechea@untdf.edu.ar, E-mail: amurphy@gsoft.com.au, E-mail: doconnor@gsoft.com.au, E-mail: bvandepe@gsoft.com.au, E-mail: bfuller@gsoft.com.au, E-mail: dave@gats-inc.com, E-mail: claudiobrunini@yahoo.com [Departmento de Astronomia y Geofísica, Universidad Nacional de La Plata, La Plata (Argentina)

2015-08-10

We present an initial survey in the southern sky of the sporadic meteoroid orbital environment obtained with the Southern Argentina Agile MEteor Radar (SAAMER) Orbital System (OS), in which over three-quarters of a million orbits of dust particles were determined from 2012 January through 2015 April. SAAMER-OS is located at the southernmost tip of Argentina and is currently the only operational radar with orbit determination capability providing continuous observations of the southern hemisphere. Distributions of the observed meteoroid speed, radiant, and heliocentric orbital parameters are presented, as well as those corrected by the observational biases associated with the SAAMER-OS operating parameters. The results are compared with those reported by three previous surveys performed with the Harvard Radio Meteor Project, the Advanced Meteor Orbit Radar, and the Canadian Meteor Orbit Radar, and they are in agreement with these previous studies. Weighted distributions for meteoroids above the thresholds for meteor trail electron line density, meteoroid mass, and meteoroid kinetic energy are also considered. Finally, the minimum line density and kinetic energy weighting factors are found to be very suitable for meteroid applications. The outcomes of this work show that, given SAAMER’s location, the system is ideal for providing crucial data to continuously study the South Toroidal and South Apex sporadic meteoroid apparent sources.

Molecular Cytogenetic Characterization Identified the Murine B-Cell Lymphoma Cell Line A-20 as a Model for Sporadic Burkitt's Lymphoma.

Science.gov (United States)

Guja, Karolina; Liehr, Thomas; Rincic, Martina; Kosyakova, Nadezda; Hussein Azawi, Shaymaa S

2017-11-01

Here, we report the first molecular cytogenetic characterization of the BALB/cAnN mouse derived B-cell non-Hodgkin lymphoma (B-cell NHL) cell lines A-20. Even though previously used as a model for testing of, for example, dexametason, up to present, no data in the genetic properties of A-20 were available. The present study closed this gap and provides evidence that A-20 is a model for B-cell NHL subgroup sporadic Burkitt's lymphoma. C-myc oncogene is involved in a translocation and copy number alterations as gain of murine 14q material could be observed. Interestingly, the cell line showed the karyotype 39,X,-X or -Y,t(2;15)(qE5;qD2),del(6)(qB3qC3),del(9)(qA3qA4),dup(14)(qE1qE4) in ~95% of the cells, being exceptionally stable for cell lines being established 38 years ago. Still, ~5% of the cells showed polyploidization followed by chromothripsis. It remains to be determined if this can be observed also in other cell lines, just has not been reported yet, and/or if it is a unique feature of A-20. Overall, finally here, the necessary genetic data to identify A-20 as a model for human sporadic Burkitt's lymphoma are provided.

Role of local governments in promoting energy efficiency

Energy Technology Data Exchange (ETDEWEB)

Lee, H.

1980-11-01

An examination is made of the incentives which influence the decisions by local governments to adopt energy-efficiency programs, either unilaterally or in partnership with the Federal government. It is found that there is significant potential for improved energy efficiency in urban residential, commercial, and industrial buildings and that exploiting these opportunities is in the interest of both Federal and local governments. Unless there is a unique combination of strong local leadership, a tradition of resource management, and external energy shocks, communities are unlikely to realize this potential. Conflicting demands, traditional perceptions, and lack of funding pose a major barrier to a strong unilateral commitment by local governments. A Federal-local partnership built upon and complementary to existing efforts in areas such as housing, social welfare, and economic development offers an excellent opportunity to realize the inherent potential of local energy-efficiency programs. At the local level, energy is not perceived as an isolated issue, but one which is part of a number of problems arising from the continuing increase in energy prices.

The Potential Mutation of GAK Gene in the Typical Sporadic Parkinson's Disease from the Han Population of Chinese Mainland.

Science.gov (United States)

Zhang, Jie; Zeng, Hanyi; Zhu, Lei; Deng, Libing; Fang, Xin; Deng, Xia; Liang, Huiting; Tang, Chunyan; Cao, Xuebing; Lu, Yi; Li, Jiao; Ren, Xiao; Zuo, Wenjie; Zhang, Xiong; Xu, Renshi

2016-12-01

The genetic factors about the pathogenesis of sporadic Parkinson's disease (sPD) is not completely clear at present; therefore, we performed a genome-wide association study, high-throughput sequencing analysis (HTPSA) of all cyclin G-associated kinase (GAK) exons, loss-of-function assessment, and sorting intolerant from tolerant analysis of HTPSA data in 250 typical sPD and 250 controls, which found 55 candidate single nucleotide polymorphisms (SNPs). To further explore these SNPs, we sequenced the 30 most strongly associated SNPs in the 460 typical sPD cases and the 525 controls. All subjects were from the Han population of Chinese mainland and excluded the toxic exposure, the heavy coffee drinking, and the early- and late-onset sPD. The minor allele frequencies (MAFs) at c.3824T>G, c.3794T>C, and c.3819G>A were higher in the control. The TG of c.3824T>G, the TC of c.3794T>C, and the AG of c.3819G>A were associated with the decreased risk of sPD. The subjects carrying the minor C allele of c.3794T>C or the minor A allele of c.3819G>A exhibited a decreased risk of sPD. c.3824T>G negatively affected the binding affinity of heat shock protein 70 (HSP70). c.3794T>C increased the surface area exposed to substrates. c.3819G>A most likely reduced the expression level of GAK. Our data suggest that the multiple SNPs of GAK synergistically participate in the pathogenesis of sPD through multiple pathways.

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.

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

Czech Academy of Sciences Publication Activity Database

Farkas, S. A.; Vymetálková, Veronika; Vodičková, Ludmila; Vodička, Pavel; Torbjörn, K. N.

2014-01-01

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

Neuropsychological Symptoms in Sporadic Creutzfeldt-Jakob Disease Patients in Germany.

Science.gov (United States)

Krasnianski, Anna; Bohling, Geeske T; Heinemann, Uta; Varges, Daniela; Meissner, Bettina; Schulz-Schaeffer, Walter J; Reif, Andreas; Zerr, Inga

2017-01-01

The polymorphism at codon 129 of the prion protein gene (PRNP) and the PrPSc types 1 and 2 belong to a molecular classification of sporadic Creutzfeldt-Jakob disease (sCJD) that correlates well with the clinical and neuropathological phenotype of sCJD. The aim of the study was to perform the first detailed evaluation of neuropsychological deficits in a large group of definite sCJD patients with known molecular subtype. We analyzed neuropsychological symptoms in a cohort of 248 sCJD patients with known M129 V polymorphism of PRNP and prion protein type. Neuropsychological symptoms were very frequent in our patients (96%) and occurred as early as in the first third of the disease course. Besides amnesia and impaired attention (89% each), frontal lobe syndrome (75%), aphasia (63%), and apraxia (57%) were the most common neuropsychological deficits. There was no statistically significant difference with regard to frequency of neuropsychological symptoms between the subtypes. In MV2 and VV2 patients, the onset of neuropsychological symptoms was significantly later than in all other subtypes. We provide the first detailed analysis of neuropsychological symptoms in a large group of sCJD patients with known M129 V genotype and prion protein type. We suggest that the rate of progression of neuropsychological symptoms is subtype-specific. These data may improve the diagnosis in atypical sCJD subtypes.

Construction of exchange-correlation functionals through interpolation between the non-interacting and the strong-correlation limit

International Nuclear Information System (INIS)

Zhou, Yongxi; Ernzerhof, Matthias; Bahmann, Hilke

2015-01-01

Drawing on the adiabatic connection of density functional theory, exchange-correlation functionals of Kohn-Sham density functional theory are constructed which interpolate between the extreme limits of the electron-electron interaction strength. The first limit is the non-interacting one, where there is only exchange. The second limit is the strong correlated one, characterized as the minimum of the electron-electron repulsion energy. The exchange-correlation energy in the strong-correlation limit is approximated through a model for the exchange-correlation hole that is referred to as nonlocal-radius model [L. O. Wagner and P. Gori-Giorgi, Phys. Rev. A 90, 052512 (2014)]. Using the non-interacting and strong-correlated extremes, various interpolation schemes are presented that yield new approximations to the adiabatic connection and thus to the exchange-correlation energy. Some of them rely on empiricism while others do not. Several of the proposed approximations yield the exact exchange-correlation energy for one-electron systems where local and semi-local approximations often fail badly. Other proposed approximations generalize existing global hybrids by using a fraction of the exchange-correlation energy in the strong-correlation limit to replace an equal fraction of the semi-local approximation to the exchange-correlation energy in the strong-correlation limit. The performance of the proposed approximations is evaluated for molecular atomization energies, total atomic energies, and ionization potentials

Unification of electromagnetic, strong and weak interaction

International Nuclear Information System (INIS)

Duong Van Phi; Duong Anh Duc

1993-09-01

The Unification of Electromagnetic, Strong and Weak Interactions is realized in the framework of the Quantum Field Theory, established in an 8-dimensional Unified Space. Two fundamental, spinor and vector field equations are considered. The first of the matter particles and the second is of the gauge particles. Interaction Lagrangians are formed from the external and internal currents and the external and internal vector field operators. Generators of the local gauge transformations are the combinations of the matrices of the first field equation. (author). 15 refs

Local grand unification and string theory

International Nuclear Information System (INIS)

Nilles, Hans Peter; Vaudrevange, Patrick K.S.

2009-09-01

The low energy effective action of string theory depends strongly on the process of compactification and the localization of fields in extra dimensions. Explicit string constructions towards the minimal supersymmetric standard model (MSSM) reveal interesting results leading to the concept of local grand unification. Properties of the MSSM indicate that we might live at a special location close to an orbifold fixed point rather than a generic point in Calabi-Yau moduli space. We observe an enhancement of (discrete) symmetries that have various implications for the properties of the MSSM such as proton stability as well as solutions to the flavor problem, the m-problem and the strong CP-problem. (orig.)

TOURISM IN PROTECTED AREAS: THE CASE OF THE NATIONAL MARINE PARK OF ALONISSOS-NORTHERN SPORADES IN GREECE

OpenAIRE

Stefanos Paraskevopoulos

2017-01-01

The tourist development of Greece began in the '50s to become one of the main sources of income, both nationally and locally, since many areas are the main source of tourism revenue. The concepts of sustainability and viability of this product and its operation, is being strongly marked recent decades in many conferences, notices, and scientific research. Greece established 30 Management Bodies to integrated management of protected areas belonging to this network. One of the main problems fac...

Shear-wave velocity compilation for Northridge strong-motion recording sites

Science.gov (United States)

Borcherdt, Roger D.; Fumal, Thomas E.

2002-01-01

Borehole and other geotechnical information collected at the strong-motion recording sites of the Northridge earthquake of January 17, 1994 provide an important new basis for the characterization of local site conditions. These geotechnical data, when combined with analysis of strong-motion recordings, provide an empirical basis to evaluate site coefficients used in current versions of US building codes. Shear-wave-velocity estimates to a depth of 30 meters are derived for 176 strong-motion recording sites. The estimates are based on borehole shear-velocity logs, physical property logs, correlations with physical properties and digital geologic maps. Surface-wave velocity measurements and standard penetration data are compiled as additional constraints. These data as compiled from a variety of databases are presented via GIS maps and corresponding tables to facilitate use by other investigators.

Semiclassical analysis of quantum localization of the periodically kicked Rydberg atom

International Nuclear Information System (INIS)

Yoshida, S.; Persson, E.; Burgdoerfer, J.; Grossmann, F.

2004-01-01

The periodically kicked Rydberg atom displays quantum localization, features of which depend on the orientation and strength of the unidirectional kicks. They include scarring of the wave function, localization by cantori, and exponential localization in the regime of strong perturbation resembling dynamical localization. Using the semiclassical Herman-Kluk propagator we investigate the degree to which semiclassical dynamics can mimic quantum localization. While the semiclassical approximation has difficulties to reproduce the scarred wave functions, the exponential tail which is a typical signature of the dynamical localization is well represented in the case of strong classical diffusion. Also the localization by broken tori is observed in the semiclassical recurrence probability for short times but the deviation from the corresponding quantum dynamics becomes more pronounced for the long-time evolution

LDA+DMFT Approach to Magnetocrystalline Anisotropy of Strong Magnets

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Jian-Xin Zhu

2014-05-01

Full Text Available The new challenges posed by the need of finding strong rare-earth-free magnets demand methods that can predict magnetization and magnetocrystalline anisotropy energy (MAE. We argue that correlated electron effects, which are normally underestimated in band-structure calculations, play a crucial role in the development of the orbital component of the magnetic moments. Because magnetic anisotropy arises from this orbital component, the ability to include correlation effects has profound consequences on our predictive power of the MAE of strong magnets. Here, we show that incorporating the local effects of electronic correlations with dynamical mean-field theory provides reliable estimates of the orbital moment, the mass enhancement, and the MAE of YCo_{5}.

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

NARCIS (Netherlands)

Es, M.A. van; Veldink, J.H.; Saris, C.G.J.; Blauw, H.M.; Vught, P.W. van; Birve, A.; Lemmens, R.; Schelhaas, H.J.; Groen, E.J.; Huisman, M.H.; Kooi, A.J. van der; Visser, M. de; Dahlberg, C.; Estrada, K.; Rivadeneira, F.; Hofman, A.; Zwarts, M.J.; Doormaal, P.T. van; Rujescu, D.; Strengman, E.; Giegling, I.; Muglia, P.; Tomik, B.; Slowik, A.; Uitterlinden, A.G.; Hendrich, C.; Waibel, S.; Meyer, T.; Ludolph, A.C.; Glass, J.D.; Purcell, S.; Cichon, S.; Nothen, Markus; Wichmann, H.E.; Schreiber, S.; Vermeulen, S.; Kiemeney, L.A.L.M.; Wokke, J.H.J.; Cronin, S.; McLaughlin, R.L.; Hardiman, O.; Fumoto, K.; Pasterkamp, R.J.; Meininger, V.; Melki, J.; Leigh, P.N.; Shaw, C.E.; Landers, J.E.; Al-Chalabi, A.; Brown Jr., R.H.; Robberecht, W.; Andersen, P.M.; Ophoff, R.A.; Berg, L.H. van den

2009-01-01

We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

NARCIS (Netherlands)

van Es, Michael A.; Veldink, Jan H.; Saris, Christiaan G. J.; Blauw, Hylke M.; van Vught, Paul W. J.; Birve, Anna; Lemmens, Robin; Schelhaas, Helenius J.; Groen, Ewout J. N.; Huisman, Mark H. B.; van der Kooi, Anneke J.; de Visser, Marianne; Dahlberg, Caroline; Estrada, Karol; Rivadeneira, Fernando; Hofman, Albert; Zwarts, Machiel J.; van Doormaal, Perry T. C.; Rujescu, Dan; Strengman, Eric; Giegling, Ina; Muglia, Pierandrea; Tomik, Barbara; Slowik, Agnieszka; Uitterlinden, Andre G.; Hendrich, Corinna; Waibel, Stefan; Meyer, Thomas; Ludolph, Albert C.; Glass, Jonathan D.; Purcell, Shaun; Cichon, Sven; Nöthen, Markus M.; Wichmann, H.-Erich; Schreiber, Stefan; Vermeulen, Sita H. H. M.; Kiemeney, Lambertus A.; Wokke, John H. J.; Cronin, Simon; McLaughlin, Russell L.; Hardiman, Orla; Fumoto, Katsumi; Pasterkamp, R. Jeroen; Meininger, Vincent; Melki, Judith; Leigh, P. Nigel; Shaw, Christopher E.; Landers, John E.; Al-Chalabi, Ammar; Brown, Robert H.; Robberecht, Wim; Andersen, Peter M.; Ophoff, Roel A.; van den Berg, Leonard H.

2009-01-01

We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P <1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide

Association between the PRNP 1368 polymorphism and the occurrence of sporadic Creutzfeldt-Jakob disease

Science.gov (United States)

Bratosiewicz-Wąsik, Jolanta; Smoleń-Dzirba, Joanna; Rozemuller, Annemieke J.; Jansen, Casper; Spliet, Wim; Jansen, Gerard H.; Wąsik, Tomasz J.; Liberski, Paweł P.

2012-01-01

Creutzfeldt-Jakob disease (CJD) is a rare transmissible neurodegenerative disorder. The etiology of sporadic form of CJD remains unsolved. In addition to the codon 129 polymorphism, polymorphisms in the non-coding region of PRNP are considered as important factors in sCJD development. To assess a possible association between PRNP 1368 SNP and sCJD, we compared the genotype, allele and haplotype frequencies of the 1368 SNP among 46 sCJD patients of Dutch origin with the respective frequencies in healthy controls. We detected a significant association between sCJD and 1368T/T genotype. A significant difference was also observed in 1368 alleles’ distribution. In the haplotype analysis, haplotype 1368C-129G was associated with decreased risk of sCJD in Dutch population. Our findings support the hypothesis that genetic variations in the regulatory region of the PRNP gene may influence the pathogenesis of sCJD. PMID:22895088

Haplotype defined by the MLH1-93G/A polymorphism is associated with MLH1 promoter hypermethylation in sporadic colorectal cancers.

Science.gov (United States)

Miyakura, Yasuyuki; Tahara, Makiko; Lefor, Alan T; Yasuda, Yoshikazu; Sugano, Kokichi

2014-11-24

Methylation of the MLH1 promoter region has been suggested to be a major mechanism of gene inactivation in sporadic microsatellite instability-positive (MSI-H) colorectal cancers (CRCs). Recently, single-nucleotide polymorphism (SNP) in the MLH1 promoter region (MLH1-93G/A; rs1800734) has been proposed to be associated with MLH1 promoter methylation, loss of MLH1 protein expression and MSI-H tumors. We examined the association of MLH1-93G/A and six other SNPs surrounding MLH1-93G/A with the methylation status in 210 consecutive sporadic CRCs in Japanese patients. Methylation of the MLH1 promoter region was evaluated by Na-bisulfite polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP) analysis. The genotype frequencies of SNPs located in the 54-kb region surrounding the MLH1-93G/A SNP were examined by SSCP analysis. Methylation of the MLH1 promoter region was observed in 28.6% (60/210) of sporadic CRCs. The proportions of MLH1-93G/A genotypes A/A, A/G and G/G were 26% (n=54), 51% (n=108) and 23% (n=48), respectively, and they were significantly associated with the methylation status (p=0.01). There were no significant associations between genotype frequency of the six other SNPs and methylation status. The A-allele of MLH1-93G/A was more common in cases with methylation than the G-allele (p=0.0094), especially in females (p=0.0067). In logistic regression, the A/A genotype of the MLH1-93G/A SNP was shown to be the most significant risk factor for methylation of the MLH1 promoter region (odds ratio 2.82, p=0.003). Furthermore, a haplotype of the A-allele of rs2276807 located -47 kb upstream from the MLH1-93G/A SNP and the A-allele of MLH1-93G/A SNP was significantly associated with MLH1 promoter methylation. These results indicate that individuals, and particularly females, carrying the A-allele at the MLH1-93G/A SNP, especially in association with the A-allele of rs2276807, may harbor an increased risk of methylation of the MLH1 promoter

Observation of strong continuous-variable Einstein-Podolsky-Rosen entanglement using shaped local oscillators

Science.gov (United States)

Shinjo, Ami; Hashiyama, Naoyuki; Koshio, Akane; Eto, Yujiro; Hirano, Takuya

2016-10-01

The continuous-variable (CV) Einstein-Podolsky-Rosen (EPR) paradox and steering are demonstrated using a pulsed light source and waveguides. We shorten the duration of the local oscillator (LO) pulse by using parametric amplification to improve the temporal mode-matching between the entangled pulse and the LO pulse. After correcting for the amplifier noise, the product of the measured conditional variance of the quadrature-phase amplitudes is 0.74 EPR-Reid criterion.

Uniquely Strongly Clean Group Rings

Institute of Scientific and Technical Information of China (English)

WANG XIU-LAN

2012-01-01

A ring R is called clean if every element is the sum of an idempotent and a unit,and R is called uniquely strongly clean (USC for short) if every element is uniquely the sum of an idempotent and a unit that commute.In this article,some conditions on a ring R and a group G such that RG is clean are given.It is also shown that if G is a locally finite group,then the group ring RG is USC if and only if R is USC,and G is a 2-group.The left uniquely exchange group ring,as a middle ring of the uniquely clean ring and the USC ring,does not possess this property,and so does the uniquely exchange group ring.

Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.

Science.gov (United States)

Kim, Daniel Seung; Burt, Amber A; Ranchalis, Jane E; Wilmot, Beth; Smith, Joshua D; Patterson, Karynne E; Coe, Bradley P; Li, Yatong K; Bamshad, Michael J; Nikolas, Molly; Eichler, Evan E; Swanson, James M; Nigg, Joel T; Nickerson, Deborah A; Jarvik, Gail P

2017-06-01

Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83. Separately, in 117 unrelated probands with sporadic ADHD, we sequenced a panel of 26 genes implicated in intellectual disability (ID) and autism spectrum disorder (ASD) to evaluate whether variation in ASD/ID-associated genes were also present in participants with ADHD. Only one putative deleterious variant (Gln600STOP) in CHD1L was identified; this was found in a single proband. Notably, no other nonsense, splice, frameshift, or highly conserved missense variants in the 26 gene panel were identified and validated. These data suggest that de novo variant analysis in families with independently adjudicated sporadic ADHD diagnosis can identify novel genes implicated in ADHD pathogenesis. Moreover, that only one of the 128 cases (0.8%, 11 exome, and 117 MIP sequenced participants) had putative deleterious variants within our data in 26 genes related to ID and ASD suggests significant independence in the genetic pathogenesis of ADHD as compared to ASD and ID phenotypes. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

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

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Atanu Biswas

2013-01-01

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

Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.

Science.gov (United States)

Gramatges, Maria M; Bertuch, Alison A

2013-12-01

Telomeres are DNA-protein structures that form a protective cap on chromosome ends. As such, they prevent the natural ends of linear chromosomes from being subjected to DNA repair activities that would result in telomere fusion, degradation, or recombination. Both the DNA and protein components of the telomere are required for this essential function, because insufficient telomeric DNA length, loss of the terminal telomeric DNA structure, or deficiency of key telomere-associated factors may elicit a DNA damage response and result in cellular senescence or apoptosis. In the setting of failed checkpoint mechanisms, such DNA-protein defects can also lead to genomic instability through telomere fusions or recombination. Thus, as shown in both model systems and in humans, defects in telomere biology are implicated in cellular and organismal aging as well as in tumorigenesis. Bone marrow failure and malignancy are 2 life-threatening disease manifestations in the inherited telomere biology disorder dyskeratosis congenita. We provide an overview of basic telomere structure and maintenance. We outline the telomere biology defects observed in dyskeratosis congenita, focusing on recent discoveries in this field. Last, we review the evidence of how telomere biology may impact sporadic aplastic anemia and the risk for various cancers. Copyright © 2013 Mosby, Inc. All rights reserved.

Generation of a human induced pluripotent stem cell line (CSC-42 from a patient with sporadic form of Parkinson's disease

Directory of Open Access Journals (Sweden)

Ekaterina Savchenko

2018-03-01

Full Text Available Skin fibroblasts were collected from a 44-year-old patient with sporadic case of Parkinson's disease (PD. The non-integrating Sendai virus vector encoding OCT3/4, SOX2, c-MYC and KLF4 was used to reprogram fibroblasts into induced pluripotent stem cells (iPSCs. Generated iPSCs had normal karyotypes, expressed common stem cell markers, and were capable of differentiating into all three germ layers. Generated line could be used for PD modeling to understand the mechanisms that influence the disorder.

A novel BRCA2 in frame deletion in a Tunisian woman with early onset sporadic breast cancer.

Science.gov (United States)

Hadiji-Abbes, N; Trifa, F; Choura, M; Khabir, A; Sellami-Boudawara, T; Frikha, M; Daoud, J; Mokdad-Gargouri, R

2015-09-01

Breast cancer is increasing among young women in Tunisia. Germline mutations in the BRCA1/2 genes are associated with a high risk for breast cancer development. However, the true contribution of BRCA1/2 mutation in sporadic breast cancer is not well documented. Our aim is to identify the BRCA2 mutation spectrum in Tunisian young women with breast cancer. Screening the BRCA2 gene was performed using DHPLC, DNA sequencing and PCR-RFLP. We identified, in a woman diagnosed with early onset breast cancer, and without family history, a novel in frame deletion 5456delGTAGCA in the exon 11 of the BRCA2 gene which causes a loss of two residues Ser1743-Ser1744. The absence of this deletion in the patients' parents suggests that it is a de novo variant. Furthermore, we screened 108 sporadic cases, 50 familial cases, and 60 controls for the identified del6bp using PCR-RFLP. None of them carried this deletion suggesting that this variant is not a benign polymorphism and probably rare in our population. With regards to the position of the Ser1743-1744 in the BRCT domain, sequence alignment revealed that the Ser1743 is conserved among several species, which may reflect its importance in the BRCA2 function. A modeling of the wild-type and mutated BRC5-BRC6 domain revealed that the deletion of the 2 Serine residues might affect the structure of this BRCA2 domain. A novel in frame deletion 5456del6bp in BRCA2 gene was identified in an early onset woman with breast cancer and without family history. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Risk factors and analysis of long-term headache in sporadic vestibular schwannoma: a multicenter cross-sectional study.

Science.gov (United States)

Carlson, Matthew L; Tveiten, Øystein Vesterli; Driscoll, Colin L; Boes, Christopher J; Sullan, Molly J; Goplen, Frederik K; Lund-Johansen, Morten; Link, Michael J

2015-11-01

The primary goals of this study were: 1) to examine the influence of disease and treatment on headache in patients with sporadic vestibular schwannoma (VS); and 2) to identify clinical predictors of long-term headache disability. This was a cross-sectional observational study with international multicenter enrollment. Patients included those with primary sporadic Headache Disability Inventory (HDI), the Hospital Anxiety and Depression Scale, and a VS symptom questionnaire. The main outcome measures were univariate and multivariable associations with HDI total score. The overall survey response rate was 79%. Data from 538 patients with VS were analyzed. The mean age at time of survey was 64 years, 56% of patients were female, and the average duration between treatment and survey was 7.7 years. Twenty-seven percent of patients received microsurgery, 46% stereotactic radiosurgery, and 28% observation. Patients with VS who were managed with observation were more than twice as likely to have severe headache disability compared with 103 control subjects without VS. When accounting for baseline differences, there was no statistically significant difference in HDI outcome between treatment modalities at time of survey. Similarly, among the microsurgery cohort, the long-term risk of severe headache disability was not different between surgical approaches. Multivariable regression demonstrated that younger age, greater anxiety and depression, and a preexisting diagnosis of headache were the primary predictors of severe long-term headache disability, while tumor size and treatment modality had little influence. At a mean of almost 8 years following treatment, approximately half of patients with VS experience headaches of varying frequency and severity. Patient-driven factors including age, sex, mental health, and preexisting headache syndrome are the strongest predictors of long-term severe headache disability. Tumor size and treatment modality have less impact. These data

Waves in strong centrifugal fields: dissipationless gas

Science.gov (United States)

Bogovalov, S. V.; Kislov, V. A.; Tronin, I. V.

2015-04-01

Linear waves are investigated in a rotating gas under the condition of strong centrifugal acceleration of the order 106 g realized in gas centrifuges for separation of uranium isotopes. Sound waves split into three families of the waves under these conditions. Dispersion equations are obtained. The characteristics of the waves strongly differ from the conventional sound waves on polarization, velocity of propagation and distribution of energy of the waves in space for two families having frequencies above and below the frequency of the conventional sound waves. The energy of these waves is localized in rarefied region of the gas. The waves of the third family were not specified before. They propagate exactly along the rotational axis with the conventional sound velocity. These waves are polarized only along the rotational axis. Radial and azimuthal motions are not excited. Energy of the waves is concentrated near the wall of the rotor where the density of the gas is largest.

Finite temperature system of strongly interacting baryons

International Nuclear Information System (INIS)

Bowers, R.L.; Gleeson, A.M.; Pedigo, R.D.; Wheeler, J.W.

1976-07-01

A fully relativistic finite temperature many body theory is constructed and used to examine the bulk properties of a system of strongly interacting baryons. The strong interactions are described by a two parameter phenomenological model fit to a simple description of nuclear matter at T = 0. The zero temperature equation of state for such a system which has already been discussed in the literature was developed to give a realistic description of nuclear matter. The model presented here is the exact finite temperature extension of that model. The effect of the inclusion of baryon pairs for T greater than or equal to 2mc 2 /k is discussed in detail. The phase transition identified with nuclear matter vanishes for system temperatures in excess of T/sub C/ = 1.034 x 10 11 0 K. All values of epsilon (P,T) correspond to systems that are causal in the sense that the locally determined speed of sound never exceeds the speed of light

Finite temperature system of strongly interacting baryons

Energy Technology Data Exchange (ETDEWEB)

Bowers, R.L.; Gleeson, A.M.; Pedigo, R.D.; Wheeler, J.W.

1976-07-01

A fully relativistic finite temperature many body theory is constructed and used to examine the bulk properties of a system of strongly interacting baryons. The strong interactions are described by a two parameter phenomenological model fit to a simple description of nuclear matter at T = 0. The zero temperature equation of state for such a system which has already been discussed in the literature was developed to give a realistic description of nuclear matter. The model presented here is the exact finite temperature extension of that model. The effect of the inclusion of baryon pairs for T greater than or equal to 2mc/sup 2//k is discussed in detail. The phase transition identified with nuclear matter vanishes for system temperatures in excess of T/sub C/ = 1.034 x 10/sup 11/ /sup 0/K. All values of epsilon (P,T) correspond to systems that are causal in the sense that the locally determined speed of sound never exceeds the speed of light.

Differential motor neuron impairment and axonal regeneration in sporadic and familiar amyotrophic lateral sclerosis with SOD-1 mutations: lessons from neurophysiology.

Science.gov (United States)

Bocci, Tommaso; Pecori, Chiara; Giorli, Elisa; Briscese, Lucia; Tognazzi, Silvia; Caleo, Matteo; Sartucci, Ferdinando

2011-01-01

Amyotrophic Lateral Sclerosis (ALS) is a degenerative disorder of the motor system. About 10% of cases are familial and 20% of these families have point mutations in the Cu/Zn superoxide dismutase 1 (SOD-1) gene. SOD-1 catalyses the superoxide radical (O(-2)) into hydrogen peroxide and molecular oxygen. The clinical neurophysiology in ALS plays a fundamental role in differential diagnosis between the familial and sporadic forms and in the assessment of its severity and progression. Sixty ALS patients (34 males; 26 females) were enrolled in the study and examined basally (T0) and every 4 months (T1, T2, and T3). Fifteen of these patients are SOD-1 symptomatic mutation carriers (nine males, six females). We used Macro-EMG and Motor Unit Number Estimation (MUNE) in order to evaluate the neuronal loss and the re-innervation process at the onset of disease and during follow-up period. SOD-1 mutation carriers have a higher number of motor units at the moment of diagnosis when compared with the sporadic form, despite a more dramatic drop in later stages. Moreover, in familiar SOD-1 ALS there is not a specific time interval in which the axonal regeneration can balance the neuronal damage. Taken together, these results strengthen the idea of a different pathogenetic mechanism at the base of sALS and fALS.

Differential Motor Neuron Impairment and Axonal Regeneration in Sporadic and Familiar Amyotrophic Lateral Sclerosis with SOD-1 Mutations: Lessons from Neurophysiology

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Tommaso Bocci

2011-12-01

Full Text Available Amyotrophic Lateral Sclerosis (ALS is a degenerative disorder of the motor system. About 10% of cases are familial and 20% of these families have point mutations in the Cu/Zn superoxide dismutase 1 (SOD-1 gene. SOD-1 catalyses the superoxide radical (O−2 into hydrogen peroxide and molecular oxygen. The clinical neurophysiology in ALS plays a fundamental role in differential diagnosis between the familial and sporadic forms and in the assessment of its severity and progression. Sixty ALS patients (34 males; 26 females were enrolled in the study and examined basally (T0 and every 4 months (T1, T2, and T3. Fifteen of these patients are SOD-1 symptomatic mutation carriers (nine males, six females. We used Macro-EMG and Motor Unit Number Estimation (MUNE in order to evaluate the neuronal loss and the re-innervation process at the onset of disease and during follow-up period. Results and Discussion: SOD-1 mutation carriers have a higher number of motor units at the moment of diagnosis when compared with the sporadic form, despite a more dramatic drop in later stages. Moreover, in familiar SOD-1 ALS there is not a specific time interval in which the axonal regeneration can balance the neuronal damage. Taken together, these results strengthen the idea of a different pathogenetic mechanism at the base of sALS and fALS.

Increased androgen, anti-Müllerian hormone, and sporadic anovulation in healthy, eumenorrheic women: a mild PCOS-like phenotype?

Science.gov (United States)

Sjaarda, Lindsey A; Mumford, Sunni L; Kissell, Kerri; Schliep, Karen C; Hammoud, Ahmad O; Perkins, Neil J; Weck, Jennifer; Wactawski-Wende, Jean; Schisterman, Enrique F

2014-06-01

Hyperandrogenism is a hallmark of polycystic ovary syndrome (PCOS) in women with irregular menses, yet the relationship between androgens and ovarian dysfunction remains poorly understood in eumenorrheic women. The objective of the study was to evaluate whether sporadic anovulation was associated with higher T and anti-müllerian hormone (AMH; marker of ovarian follicle count) concentrations in eumenorrheic women. This was a prospective cohort study from 2005 to 2007. The study was conducted at the University of Buffalo in western New York state. A total of 259 eumenorrheic women without a self-reported history of infertility, PCOS, or other endocrine disorder participated in the study. Total T and AMH were measured five to eight times per cycle for one (n = 9) or two (n = 250) cycles per woman (n = 509 cycles) with timing of menstrual cycle phase assisted by fertility monitors. Anovulatory cycles were defined biochemically by progesterone and LH concentrations. Repeated-measures ANOVA was conducted on log-transformed data with adjustment for age. Compared with ovulatory cycles (n = 467), sporadic anovulatory cycles (n = 42) had marginally higher total and significantly higher free T [mean 23.7 ng/dL (95% confidence interval [CI] 21.4-26.3) vs 21.6 ng/dL (95% CI 20.9-22.3), P = .08, and 0.36 ng/dL (95% CI 0.33-0.40) vs 0.32 ng/dL (95% CI 0.31-0.33), P = .02, respectively] during menses and also throughout the luteal phase (P PCOS in women with menstrual disturbances may occur across a continuum of T concentrations, including in eumenorrheic women without clinical hyperandrogenism.

Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA

NARCIS (Netherlands)

Price, Mark A.; Barghout, Victoria; Benveniste, Olivier; Christopher-Stine, Lisa; Corbett, Alastair; de Visser, Marianne; Hilton-Jones, David; Kissel, John T.; Lloyd, Thomas E.; Lundberg, Ingrid E.; Mastaglia, Francis; Mozaffar, Tahseen; Needham, Merrilee; Schmidt, Jens; Sivakumar, Kumaraswamy; DeMuro, Carla; Tseng, Brian S.

2016-01-01

There is a paucity of data on mortality and causes of death (CoDs) in patients with sporadic inclusion body myositis (sIBM), a rare, progressive, degenerative, inflammatory myopathy that typically affects those aged over 50 years. Based on patient records and expertise of clinical specialists, this

Superdiffusive transport and energy localization in disordered granular crystals

Science.gov (United States)

Martínez, Alejandro J.; Kevrekidis, P. G.; Porter, Mason A.

2016-02-01

We study the spreading of initially localized excitations in one-dimensional disordered granular crystals. We thereby investigate localization phenomena in strongly nonlinear systems, which we demonstrate to differ fundamentally from localization in linear and weakly nonlinear systems. We conduct a thorough comparison of wave dynamics in chains with three different types of disorder—an uncorrelated (Anderson-like) disorder and two types of correlated disorders (which are produced by random dimer arrangements)—and for two types of initial conditions (displacement excitations and velocity excitations). We find for strongly precompressed (i.e., weakly nonlinear) chains that the dynamics depend strongly on the type of initial condition. In particular, for displacement excitations, the long-time asymptotic behavior of the second moment m˜2 of the energy has oscillations that depend on the type of disorder, with a complex trend that differs markedly from a power law and which is particularly evident for an Anderson-like disorder. By contrast, for velocity excitations, we find that a standard scaling m˜2˜tγ (for some constant γ ) applies for all three types of disorder. For weakly precompressed (i.e., strongly nonlinear) chains, m˜2 and the inverse participation ratio P-1 satisfy scaling relations m˜2˜tγ and P-1˜t-η , and the dynamics is superdiffusive for all of the cases that we consider. Additionally, when precompression is strong, the inverse participation ratio decreases slowly (with η disorder, and the dynamics leads to a partial localization around the core and the leading edge of a propagating wave packet. For an Anderson-like disorder, displacement perturbations lead to localization of energy primarily in the core, and velocity perturbations cause the energy to be divided between the core and the leading edge. This localization phenomenon does not occur in the sonic-vacuum regime, which yields the surprising result that the energy is no longer

Non-Local Effects in Kaonic Atoms

International Nuclear Information System (INIS)

Lutz, M.; Florkowski, W.

2000-01-01

Optical potentials with non-local (gradient) terms are used to describe the spectra of kaonic atoms. The strength of the non-local terms is determined from a many-body calculation of the kaon self energy in nuclear matter. We find that the non-local terms are quantitatively important and the results depend strongly on the way the gradient terms are arranged. Phenomenologically successful description is obtained for p-wave like optical potentials. It is suggested that the microscopic form of the non-local interaction terms is obtained systematically by means of a semi-classical expansion of the nucleus structure. (author)

Superdiffusive transport and energy localization in disordered granular crystals

International Nuclear Information System (INIS)

Martinez, Alejandro J.; Kevrekidis, Panagiotis G.; Porter, Mason A.

2016-01-01

We study the spreading of initially localized excitations in one-dimensional disordered granular crystals. We thereby investigate localization phenomena in strongly nonlinear systems, which we demonstrate to be fundamentally different from localization in linear and weakly nonlinear systems. We conduct a thorough comparison of wave dynamics in chains with three different types of disorder: an uncorrelated (Anderson-like) disorder and two types of correlated disorders (which are produced by random dimer arrangements), and for two families of initial conditions: displacement perturbations and velocity perturbations. We find for strongly precompressed (i.e., weakly nonlinear) chains that the dynamics strongly depends on the initial condition. Furthermore, for displacement perturbations, the long-time asymptotic behavior of the second moment m ~ 2 has oscillations that depend on the type of disorder, with a complex trend that is markedly different from a power law and which is particularly evident for an Anderson-like disorder

Protein-losing Enteropathy Caused by Intestinal or Colonic Lymphangiectasia Complicated by Sporadic Lymphangioleiomyomatosis: A Report of Two Cases.

Science.gov (United States)

Nishino, Koichi; Yoshimi, Kaku; Shibuya, Tomoyoshi; Hayashi, Takuo; Mitani, Keiko; Kobayashi, Etsuko; Ichikawa, Masako; Asao, Tetsuhiko; Suzuki, Yohei; Sato, Tadashi; Shiota, Satomi; Kodama, Yuzo; Takahashi, Kazuhisa; Seyama, Kuniaki

2017-01-01

This report describes two patients with sporadic lymphangioleiomyomatosis complicated by protein-losing enteropathy (PLE). Imaging studies indicated retroperitoneal lymphangioleiomyomas and abnormalities of the adjacent digestive tract. Endoscopic mucosal biopsy revealed colonic lymphangiectasia in one patient; whereas the site in the other patient was intestinal. Treatment with sirolimus led to the complete resolution of PLE within several months; additionally, marked shrinkage was observed in the lymphangioleiomyomas of both cases. These findings suggest that colonic or intestinal lymphatic congestion due to neighboring lymphangioleiomyomas was the mechanism for the development of PLE. At the time of writing this report, the beneficial effect of sirolimus has lasted for more than 3 years.

Differential Motor Neuron Impairment and Axonal Regeneration in Sporadic and Familiar Amyotrophic Lateral Sclerosis with SOD-1 Mutations: Lessons from Neurophysiology

OpenAIRE

Bocci, Tommaso; Pecori, Chiara; Giorli, Elisa; Briscese, Lucia; Tognazzi, Silvia; Caleo, Matteo; Sartucci, Ferdinando

2011-01-01

Amyotrophic Lateral Sclerosis (ALS) is a degenerative disorder of the motor system. About 10% of cases are familial and 20% of these families have point mutations in the Cu/Zn superoxide dismutase 1 (SOD-1) gene. SOD-1 catalyses the superoxide radical (O−2) into hydrogen peroxide and molecular oxygen. The clinical neurophysiology in ALS plays a fundamental role in differential diagnosis between the familial and sporadic forms and in the assessment of its severity and progression. Sixty ALS pa...

Point contacts and localization in generic helical liquids

Science.gov (United States)

Orth, Christoph P.; Strübi, Grégory; Schmidt, Thomas L.

2013-10-01

We consider two helical liquids on opposite edges of a two-dimensional topological insulator, which are connected by one or several local tunnel junctions. In the presence of spatially inhomogeneous Rashba spin-orbit coupling, the spin of the helical edge states is momentum dependent, and this spin texture can be different on opposite edges. We demonstrate that this has a strong impact on the electron transport between the edges. In particular, in the case of many random tunnel contacts, the localization length depends strongly on the spin textures of the edge states.

LGI1 antibody encephalopathy overlapping with sporadic Creutzfeldt-Jakob disease

Science.gov (United States)

Kim, Boaz; Yoo, Patrick; Sutherland, Tom; Boyd, Alison; Stehmann, Christiane; McLean, Catriona

2016-01-01

Objective: To report a rare case of leucine-rich, glioma inactivated 1 (LGI1) antibody–mediated autoimmune encephalopathy clinically overlapping with pathologically confirmed sporadic Creutzfeldt-Jakob disease (CJD). Methods: The patient was investigated with repeated brain MRI, EEG, CSF examination, whole-body fluorodeoxy-glucose positron emission tomography, genetic analysis of the prion protein gene (PRNP), and extensive serologic screening for paraneoplastic and autoimmune encephalopathy markers. Written informed consent was obtained from the patient's next of kin for access to clinical files for research purposes and for publication. Results: The patient was a 77-year-old man who presented with faciobrachial dystonic seizures (FBDS) secondary to LGI1 antibody–mediated autoimmune encephalopathy, with suggestive MRI findings and a complete response to treatment with combinatorial immunosuppression. Stereotactic biopsy of a nonenhancing T1 hyperintense basal ganglia lesion during the initial FBDS phase, albeit following immunosuppression, did not disclose evidence of lymphocytic inflammation. Following full remission of the FBDS, the patient manifested a rapidly progressive dementia associated with gross motor decline confirmed to be CJD at autopsy (molecular subtype VV3), with no evidence of a pathogenic PRNP mutation. Conclusions: Our patient highlights that these rare diseases are not invariably mutually exclusive and underscores the benefits of comprehensive neuropathologic examination of the brain to achieve an accurate diagnosis, especially in complex cases when the clinical trajectory dramatically deviates and a concomitant disease may need to be conscientiously considered to best explain the new clinical course. PMID:27354985

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

Science.gov (United States)

Pezzopane, Michael; Pignalberi, Alessio; Pietrella, Marco

2015-09-01

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

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.

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

Directory of Open Access Journals (Sweden)

Frank P Diekstra

Full Text Available Amyotrophic lateral sclerosis (ALS is a progressive, neurodegenerative disease characterized by loss of upper and lower motor neurons. ALS is considered to be a complex trait and genome-wide association studies (GWAS have implicated a few susceptibility loci. However, many more causal loci remain to be discovered. Since it has been shown that genetic variants associated with complex traits are more likely to be eQTLs than frequency-matched variants from GWAS platforms, we conducted a two-stage genome-wide screening for eQTLs associated with ALS. In addition, we applied an eQTL analysis to finemap association loci. Expression profiles using peripheral blood of 323 sporadic ALS patients and 413 controls were mapped to genome-wide genotyping data. Subsequently, data from a two-stage GWAS (3,568 patients and 10,163 controls were used to prioritize eQTLs identified in the first stage (162 ALS, 207 controls. These prioritized eQTLs were carried forward to the second sample with both gene-expression and genotyping data (161 ALS, 206 controls. Replicated eQTL SNPs were then tested for association in the second-stage GWAS data to find SNPs associated with disease, that survived correction for multiple testing. We thus identified twelve cis eQTLs with nominally significant associations in the second-stage GWAS data. Eight SNP-transcript pairs of highest significance (lowest p = 1.27 × 10(-51 withstood multiple-testing correction in the second stage and modulated CYP27A1 gene expression. Additionally, we show that C9orf72 appears to be the only gene in the 9p21.2 locus that is regulated in cis, showing the potential of this approach in identifying causative genes in association loci in ALS. This study has identified candidate genes for sporadic ALS, most notably CYP27A1. Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can present as a clinical mimic of ALS with progressive upper motor neuron loss, making it a plausible

Multiple sporadic colorectal cancers display a unique methylation phenotype.

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Victoria Gonzalo

Full Text Available Epigenetics are thought to play a major role in the carcinogenesis of multiple sporadic colorectal cancers (CRC. Previous studies have suggested concordant DNA hypermethylation between tumor pairs. However, only a few methylation markers have been analyzed. This study was aimed at describing the epigenetic signature of multiple CRC using a genome-scale DNA methylation profiling. We analyzed 12 patients with synchronous CRC and 29 age-, sex-, and tumor location-paired patients with solitary tumors from the EPICOLON II cohort. DNA methylation profiling was performed using the Illumina Infinium HM27 DNA methylation assay. The most significant results were validated by Methylight. Tumors samples were also analyzed for the CpG Island Methylator Phenotype (CIMP; KRAS and BRAF mutations and mismatch repair deficiency status. Functional annotation clustering was performed. We identified 102 CpG sites that showed significant DNA hypermethylation in multiple tumors with respect to the solitary counterparts (difference in β value ≥0.1. Methylight assays validated the results for 4 selected genes (p = 0.0002. Eight out of 12(66.6% multiple tumors were classified as CIMP-high, as compared to 5 out of 29(17.2% solitary tumors (p = 0.004. Interestingly, 76 out of the 102 (74.5% hypermethylated CpG sites found in multiple tumors were also seen in CIMP-high tumors. Functional analysis of hypermethylated genes found in multiple tumors showed enrichment of genes involved in different tumorigenic functions. In conclusion, multiple CRC are associated with a distinct methylation phenotype, with a close association between tumor multiplicity and CIMP-high. Our results may be important to unravel the underlying mechanism of tumor multiplicity.

Signatures of Anderson localization excited by an optical frequency comb

KAUST Repository

Gentilini, S.

2010-01-25

We investigate Anderson localization of light as occurring in ultrashort excitations. A theory based on time dependent coupled-mode equations predicts universal features in the spectrum of the transmitted pulse. In particular, the process of strong localization of light is shown to correspond to the formation of peaks in both the amplitude and in the group delay of the transmitted pulse. Parallel ab initio simulations made with finite-difference time-domain codes and molecular dynamics confirm theoretical predictions, while showing that there exists an optimal degree of disorder for the strong localization. © 2010 The American Physical Society.

Demonstration that Australian Pasteurella multocida isolates from sporadic outbreaks of porcine pneumonia are non-toxigenic (toxA-) and display heterogeneous DNA restriction endonuclease profiles compared with toxigenic isolates from herds with progressive atrophic rhinitis.

Science.gov (United States)

Djordjevic, S P; Eamens, G J; Ha, H; Walker, M J; Chin, J C

1998-08-01

Capsular types A and D of Pasteurella multocida cause economic losses in swine because of their association with progressive atrophic rhinitis (PAR) and enzootic pneumonia. There have been no studies comparing whole-cell DNA profiles of isolates associated with these two porcine respiratory diseases. Twenty-two isolates of P. multocida from diseased pigs in different geographic localities within Australia were characterised genotypically by restriction endonuclease analysis (REA) with the enzyme CfoI. Seven of 12 P. multocida isolates from nasal swabs from pigs in herds where PAR was either present or suspected displayed a capsular type D phenotype. These were shown to possess the toxA gene by polymerase chain reaction (PCR) and Southern hybridisation, and further substantiated by production of cytotoxin in vitro. The CfoI profile of one of these seven isolates, which was from the initial outbreak of PAR in Australia (in Western Australia, WA), was identical with profiles of all six other toxigenic isolates from sporadic episodes in New South Wales (NSW). The evidence suggests that the strain involved in the initial outbreak was responsible for the spread of PAR to the eastern states of Australia. Another 10 isolates, representing both capsular types A and D, were isolated exclusively from porcine lung lesions after sporadic outbreaks of enzootic pneumonia in NSW and WA. CfoI restriction endonuclease profiles of these isolates revealed considerable genomic heterogeneity. Furthermore, none of these possessed the toxA gene. This suggests that P. multocida strains with the toxA gene do not have a competitive survival advantage in the lower respiratory tract or that toxin production does not play a role in the pathology of pneumonic lesions, or both. REA with polyacrylamide gel electrophoresis and silver staining was found to be a practical and discriminatory tool for epidemiological tracing of P. multocida outbreaks associated with PAR or pneumonia in pigs.

ROLE OF DNA METHYLATION AS A DIAGNOSTIC BIOMARKER OF SPORADIC BREAST CANCER

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Wirsma Arif Harahap

2017-02-01

Full Text Available The initiation and progression of breast cancer have been recognized for many years to be secondary to the accumulation of genetic mutations which lead to aberrant cellular function. Genetic mutations, either inherited or sporadic, may result in the activation of oncogenes and the inactivation of tumor suppressor genes. The more recent discovery that reversible alterations in histone proteins and deoxyribonucleic acid (DNA can also lead to tumorigenesis has introduced a novel term to the field of cancer research: epigenetics.  Epigenetics refers to the study of heritable changes in gene regulation that do not involve a change in the DNA sequence. The most often studied in epigenetics of breast cancer is DNA methylation. That a promoter methylation result in transcription blockade supports the notion that cellular inhibition takes place. Compared to normal tissues, hypermethylation occurs from double to triple in cancerous ones. DNA methylation plays a crucial role in oncogenesis and is one of the hallmarks of cancer. Detection of aberrantly methylated CpG islands in promoter region of several genes in DNA sample derived from nipple aspirates, serum, or cancer tissue associated with down regulation of expression or loss of function of these genes has been associated with early stages of breast cancer, where  hypermethylation of CpG island points to poorer prognosis in breast cancer.  DNA methylation has been identified as signature for TNBC. Methylation of BRCA1 gene is frequently demonstrated in young, estrogen receptor-negative breast cancer patients. Methylation of specific genes is known to differ across race and socioeconomic status. BRCA1 methylation in premenopausal women with sporadic breast cancer in West Sumatra region has been higher than in Western women. DNA methylation may be used to enhance current breast cancer classification. There is such a distinction between methylation and gene expression profiles of breast cancer that not

Genomic Alterations Observed in Colitis-Associated Cancers Are Distinct From Those Found in Sporadic Colorectal Cancers and Vary by Type of Inflammatory Bowel Disease.

Science.gov (United States)

Yaeger, Rona; Shah, Manish A; Miller, Vincent A; Kelsen, Judith R; Wang, Kai; Heins, Zachary J; Ross, Jeffrey S; He, Yuting; Sanford, Eric; Yantiss, Rhonda K; Balasubramanian, Sohail; Stephens, Philip J; Schultz, Nikolaus; Oren, Moshe; Tang, Laura; Kelsen, David

2016-08-01

Patients with inflammatory bowel diseases, such as Crohn's disease (CD) and ulcerative colitis (UC), are at increased risk for small bowel or colorectal cancers (colitis-associated cancers [CACs]). We compared the spectrum of genomic alterations in CACs with those of sporadic colorectal cancers (CRCs) and investigated differences between CACs from patients with CD vs UC. We studied tumor tissues from patients with CACs treated at Memorial Sloan Kettering Cancer Center or Weill Cornell Medical College from 2003 through 2015. We performed hybrid capture-based next-generation sequencing analysis of >300 cancer-related genes to comprehensively characterize genomic alterations. We performed genomic analyses of 47 CACs (from 29 patients with UC and 18 with CD; 43 primary tumors and 4 metastases). Primary tumors developed in the ileum (n = 2), right colon (n = 18), left colon (n = 6), and rectosigmoid or rectum (n = 21). We found genomic alterations in TP53, IDH1, and MYC to be significantly more frequent, and mutations in APC to be significantly less frequent, than those reported in sporadic CRCs by The Cancer Genome Atlas or Foundation Medicine. We identified genomic alterations that might be targeted by a therapeutic agent in 17 of 47 (36%) CACs. These included the mutation encoding IDH1 R132; amplification of FGFR1, FGFR2, and ERBB2; and mutations encoding BRAF V600E and an EML4-ALK fusion protein. Alterations in IDH1 and APC were significantly more common in CACs from patients with CD than UC. In an analysis of CACs from 47 patients, we found significant differences in the spectrum of genomic alterations in CACs compared with sporadic CRCs. We observed a high frequency of IDH1 R132 mutations in patients with CD but not UC, as well as a high frequency of MYC amplification in CACs. Many genetic alterations observed in CACs could serve as therapeutic targets. Copyright © 2016 AGA Institute. Published by Elsevier Inc. All rights reserved.

<strong>Mini-project>

DEFF Research Database (Denmark)

Katajainen, Jyrki

2008-01-01

In this project the goal is to develop the safe * family of containers for the CPH STL. The containers to be developed should be safer and more reliable than any of the existing implementations. A special focus should be put on strong exception safety since none of the existing prototypes available...

Strong correlation effects in theoretical STM studies of magnetic adatoms

Science.gov (United States)

Dang, Hung T.; dos Santos Dias, Manuel; Liebsch, Ansgar; Lounis, Samir

2016-03-01

We present a theoretical study for the scanning tunneling microscopy (STM) spectra of surface-supported magnetic nanostructures, incorporating strong correlation effects. As concrete examples, we study Co and Mn adatoms on the Cu(111) surface, which are expected to represent the opposite limits of Kondo physics and local moment behavior, using a combination of density functional theory and both quantum Monte Carlo and exact diagonalization impurity solvers. We examine in detail the effects of temperature T , correlation strength U , and impurity d electron occupancy Nd on the local density of states. We also study the effective coherence energy scale, i.e., the Kondo temperature TK, which can be extracted from the STM spectra. Theoretical STM spectra are computed as a function of STM tip position relative to each adatom. Because of the multiorbital nature of the adatoms, the STM spectra are shown to consist of a complicated superposition of orbital contributions, with different orbital symmetries, self-energies, and Kondo temperatures. For a Mn adatom, which is close to half-filling, the STM spectra are featureless near the Fermi level. On the other hand, the quasiparticle peak for a Co adatom gives rise to strongly position-dependent Fano line shapes.

Probing the statistical properties of Anderson localization with quantum emitters

DEFF Research Database (Denmark)

Smolka, Stephan; Nielsen, Henri Thyrrestrup; Sapienza, Luca

2011-01-01

experiments by measuring the intensity of an external light source after propagation through a disordered medium. However, discriminating between Anderson localization and losses in these experiments remains a major challenge. In this paper, we present an alternative approach where we use quantum emitters...... of disorder induced in the photonic crystal, we observe a pronounced increase in the localization length that is attributed to changes in the local density of states, a behavior that is in stark contrast to entirely random systems. The analysis may pave the way for accurate models and the control of Anderson......Wave propagation in disordered media can be strongly modified by multiple scattering and wave interference. Ultimately, the so-called Anderson-localized regime is reached when the waves become strongly confined in space. So far, Anderson localization of light has been probed in transmission...

SEEK-2 (Sporadic-E Experiment over Kyushu 2 − Project Outline, and Significance

Directory of Open Access Journals (Sweden)

R. Pfaff

2005-10-01

Full Text Available SEEK-2 (Sporadic-E Experiment over Kyushu 2 is an observation campaign to study the spatial structure of the field-aligned irregularity (FAI and sporadic-E(Es-layer by means of two sounding rockets and a ground-based observation network with radars and optical instruments. The experiment was successfully conducted on 3 August 2002, with successive launches of two sounding rockets from the Uchinoura Space Center (USC of the Japan Aerospace Exploration Agency (JAXA. The timing of the experiment was carefully selected, while intense quasi-periodic (QP echoes were observed with two radars in Tanegashima. The main Es-layer, with its double-layered structure, was observed at altitudes of 103–105 km, the presence of which was well accounted for by the ion accumulation due to neutral-wind shear. Several minor peaks were detected in the electron density profiles at altitudes of up to 130 km. The intensity of the electric field was 5–10 mV/m and showed intense fluctuations below 110 km. Wave-like variation of the electric field was seen above 110 km. From radar experiments, we found that QP echoes appeared around 105 km, which agreed well with the main Es-layer height. The QP echoes propagated to the west-northwest, with frontal structures elongated from north-northeast to south-southwest. Radar observations conduced throughout the SEEK-2 period, on the other hand, showed that frontal structures of the QP echoes were most frequently propagated to the southeast. This result was consistent with the direction of gravity-wave propagation observed with the OH imager during the same period. The rocket beacon experiment with the Es-layers revealed the spatial structure of the plasma densities. On the basis of these results and those from SEEK-1 in 1996, we examined the structures of the nighttime mid-latitude E-region. We concluded that the QP echoes reflect the horizontal structures of the main Es-layers. The source of the structures was not clearly

Strong-coupling approach to nematicity in the cuprates

Science.gov (United States)

Orth, Peter Philipp; Jeevanesan, Bhilahari; Schmalian, Joerg; Fernandes, Rafael

The underdoped cuprate superconductor YBa2Cu3O7-δ is known to exhibit an electronic nematic phase in proximity to antiferromagnetism. While nematicity sets in at large temperatures of T ~ 150 K, static spin density wave order only emerges at much lower temperatures. The magnetic response shows a strong in-plane anisotropy, displaying incommensurate Bragg peaks along one of the crystalline directions and a commensurate peak along the other one. Such an anisotropy persists even in the absence of long-range magnetic order at higher temperatures, marking the onset of nematic order. Here we theoretically investigate this situation using a strong-coupling method that takes into account both the localized Cu spins and the holes doped into the oxygen orbitals. We derive an effective spin Hamiltonian and show that charge fluctuations promote an enhancement of the nematic susceptibility near the antiferromagnetic transition temperature.

On strong-coupling correlation functions of circular Wilson loops and local operators

International Nuclear Information System (INIS)

Alday, Luis F; Tseytlin, Arkady A

2011-01-01

Motivated by the problem of understanding 3-point correlation functions of gauge-invariant operators in N=4 super Yang-Mills theory we consider correlators involving Wilson loops and a 'light' operator with fixed quantum numbers. At leading order in the strong-coupling expansion such correlators are given by the 'light' vertex operator evaluated on a semiclassical string world surface ending on the corresponding loops at the boundary of AdS 5 x S 5 . We study in detail the example of a correlator of two concentric circular Wilson loops and a dilaton vertex operator. The resulting expression is given by an integral of combinations of elliptic functions and can be computed analytically in some special limits. We also consider a generalization of the minimal surface ending on two circles to the case of non-zero angular momentum J in S 5 and discuss a special limit when one of the Wilson loops is effectively replaced by a 'heavy' operator with charge J. (paper)

Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob disease in Germany.

Science.gov (United States)

Krasnianski, Anna; Bohling, Geeske T; Harden, Markus; Zerr, Inga

2015-09-01

Psychiatric symptoms in sporadic Creutzfeldt-Jakob disease (sCJD) are still not sufficiently evaluated. To describe psychiatric symptoms in sCJD with respect to molecular subtype. Patients in this retrospective study were classified according to established diagnostic criteria. 248 sCJD patients with known molecular subtype were recruited from January 1993 to December 2004 and investigated. Psychiatric symptoms were defined according to Möller and colleagues and the AMDP system (Study Group for Methods and Documentation in Psychiatry) and were collected by direct examination by study physicians or extracted from medical documentation. Our data were compared with published data on variant CJD (vCJD). Psychiatric symptoms were common in sCJD patients (90%) and mostly found already at the disease onset (agitation in 64% of the patients, hallucinations in 45%, anxiety in 50%, depression in 37%). All psychiatric symptoms but illusions were found early in the disease course. Psychiatric symptoms in sCJD were less frequent than in vCJD. We provide the first detailed analysis of psychiatric symptoms in a large group of patients with sCJD with respect to differences concerning frequency and time point of occurrence of psychiatric symptoms between molecular subtypes. These data suggest that psychiatric symptoms occurring early in the disease course are common not only in vCJD but also in other CJD types. © Copyright 2015 Physicians Postgraduate Press, Inc.

Comparative Study of Prions in Iatrogenic and Sporadic Creutzfeldt-Jakob Disease

Science.gov (United States)

Xiao, Xiangzhu; Yuan, Jue; Qing, Liuting; Cali, Ignazio; Mikol, Jacqueline; Delisle, Marie-Bernadette; Uro-Coste, Emmanuelle; Zeng, Liang; Abouelsaad, Mai; Gazgalis, Dimitris; Martinez, Manuel Camacho; Wang, Gong-Xian; Brown, Paul; Ironside, James W.; Gambetti, Pierluigi; Kong, Qingzhong; Zou, Wen-Quan

2014-01-01

Differentiating iatrogenic Creutzfeldt-Jakob disease (iCJD) from sporadic CJD (sCJD) would be useful for the identification and prevention of human-to-human prion transmission. Currently, the diagnosis of iCJD depends on identification of a recognized source of contamination to which patients have been exposed, in addition to fulfilling basic requirements for the establishment of diagnosis of CJD. Attempts to identify differences in clinical manifestations, neuropathological changes and pathological prion protein (PrPSc) between iCJD and sCJD have been unsuccessful. In the present study, using a variety of more sophisticated methods including sucrose step gradient sedimentation, conformational stability immunoassay, protein misfolding cyclic amplification (PMCA), fragment-mapping, and transmission study, we show no significant differences in gel profiles, oligomeric state, conformational stability and infectivity of PrPSc between iCJD and sCJD. However, using PMCA, we find that convertibility and amplification efficiency of PrPSc is greater in iCJD than in sCJD in a polymorphism-dependent manner. Moreover, two protease-resistant PrP C-terminal fragments (termed PrP-CTF12/13) were detected in all 9 cases of sCJD but not in 6 of 8 cases of iCJD tested in this study. The use of fragment mapping- and PMCA-based assays thus provides a means to distinguish most cases of iCJD from sCJD. PMID:25419482

The interaction between stratospheric monthly mean regional winds and sporadic-E

International Nuclear Information System (INIS)

Çetin, Kenan; Korlaelçi, Serhat; Özcan, Osman

2017-01-01

In the present study, a statistical investigation is carried out to explore whether there is a relationship between the critical frequency (foEs) of the sporadic-E layer that is occasionally seen on the E region of the ionosphere and the quasi-biennial oscillation (QBO) that flows in the east–west direction in the equatorial stratosphere. Multiple regression model as a statistical tool was used to determine the relationship between variables. In this model, the stationarity of the variables (foEs and QBO) was firstly analyzed for each station (Cocos Island, Gibilmanna, Niue Island, and Tahiti). Then, a co-integration test was made to determine the existence of a long-term relationship between QBO and foEs. After verifying the presence of a long-term relationship between the variables, the magnitude of the relationship between variables was further determined using the multiple regression model. As a result, it is concluded that the variations in foEs were explainable with QBO measured at 10 hPa altitude at the rate of 69%, 94%, 79%, and 58% for Cocos Island, Gibilmanna, Niue Island, and Tahiti stations, respectively. It is observed that the variations in foEs were explainable with QBO measured at 70 hPa altitude at the rate of 66%, 69%, 53%, and 47% for Cocos Island, Gibilmanna, Niue Island, and Tahiti stations, respectively. (paper)

On the local well-posedness of Lovelock and Horndeski theories

Science.gov (United States)

Papallo, Giuseppe; Reall, Harvey S.

2017-08-01

We investigate local well-posedness of the initial value problem for Lovelock and Horndeski theories of gravity. A necessary condition for local well-posedness is strong hyperbolicity of the equations of motion. Even weak hyperbolicity can fail for strong fields so we restrict to weak fields. The Einstein equation is known to be strongly hyperbolic in harmonic gauge so we study Lovelock theories in harmonic gauge. We show that the equation of motion is always weakly hyperbolic for weak fields but, in a generic weak-field background, it is not strongly hyperbolic. For Horndeski theories, we prove that, for weak fields, the equation of motion is always weakly hyperbolic in any generalized harmonic gauge. For some Horndeski theories there exists a generalized harmonic gauge for which the equation of motion is strongly hyperbolic in a weak-field background. This includes "k-essence" like theories. However, for more general Horndeski theories, there is no generalized harmonic gauge for which the equation of motion is strongly hyperbolic in a generic weak-field background. Our results show that the standard method used to establish local well-posedness of the Einstein equation does not extend to Lovelock or general Horndeski theories. This raises the possibility that these theories may not admit a well-posed initial value problem even for weak fields.

Localized cowpox infection in a 5-month-old Rottweiler.

Science.gov (United States)

von Bomhard, Wolf; Mauldin, Elizabeth A; Breuer, Wolfram; Pfleghaar, Stephan; Nitsche, Andreas

2011-02-01

Cowpox virus (CPXV) infections are a sporadic cause of localized or disseminated skin disease in domestic animals and humans in Europe. Rodents are considered the primary reservoir host for CPXV. Cats can become infected by close contact with rodents and are the most important source of human infections. Recently, public awareness has also been drawn to CPXV infections by an outbreak of rat to human infections in central Europe. In dogs, CPXV infections are rare. Here we report a case of a 5-month-old Rottweiler with a focal nodule on the muzzle. The lesion was fully excised, and recovery was uneventful. The preliminary diagnosis of a CPXV infection was established by the characteristic inclusion bodies on histopathological examination. The diagnosis was confirmed by electron microscopy and polymerase chain reaction (PCR). Sequencing of the PCR product led to a 231 bp sequence of the orthopoxvirus HA gene that was identical to a CPXV strain previously isolated from a cat. This is the third documented case of a canine CPXV infection. © 2010 The Authors. Journal compilation © 2010 ESVD and ACVD.

STRONG SOLAR WIND DYNAMIC PRESSURE PULSES: INTERPLANETARY SOURCES AND THEIR IMPACTS ON GEOSYNCHRONOUS MAGNETIC FIELDS

International Nuclear Information System (INIS)

Zuo, Pingbing; Feng, Xueshang; Wang, Yi; Xie, Yanqiong; Xu, Xiaojun

2015-01-01

In this investigation, we first present a statistical result of the interplanetary sources of very strong solar wind dynamic pressure pulses (DPPs) detected by WIND during solar cycle 23. It is found that the vast majority of strong DPPs reside within solar wind disturbances. Although the variabilities of geosynchronous magnetic fields (GMFs) due to the impact of positive DPPs have been well established, there appears to be no systematic investigations on the response of GMFs to negative DPPs. Here, we study both the decompression effects of very strong negative DPPs and the compression from strong positive DPPs on GMFs at different magnetic local time sectors. In response to the decompression of strong negative DPPs, GMFs on the dayside near dawn and near dusk on the nightside, are generally depressed. But near the midnight region, the responses of GMF are very diverse, being either positive or negative. For part of the events when GOES is located at the midnight sector, the GMF is found to abnormally increase as the result of magnetospheric decompression caused by negative DPPs. It is known that under certain conditions magnetic depression of nightside GMFs can be caused by the impact of positive DPPs. Here, we find that a stronger pressure enhancement may have a higher probability of producing the exceptional depression of GMF at the midnight region. Statistically, both the decompression effect of strong negative DPPs and the compression effect of strong positive DPPs depend on the magnetic local time, which are stronger at the noon sector

STRONG SOLAR WIND DYNAMIC PRESSURE PULSES: INTERPLANETARY SOURCES AND THEIR IMPACTS ON GEOSYNCHRONOUS MAGNETIC FIELDS

Energy Technology Data Exchange (ETDEWEB)

Zuo, Pingbing; Feng, Xueshang; Wang, Yi [SIGMA Weather Group, State Key Laboratory of Space Weather, National Space Science Center, Chinese Academy of Sciences, Beijing (China); Xie, Yanqiong [College of Meteorology and Oceanography, PLA University of Science and Technology, Nanjing (China); Xu, Xiaojun, E-mail: pbzuo@spaceweather.ac.cn, E-mail: fengx@spaceweather.ac.cn [Space Science Institute, Macau University of Science and Technology, Macao (China)

2015-10-20

In this investigation, we first present a statistical result of the interplanetary sources of very strong solar wind dynamic pressure pulses (DPPs) detected by WIND during solar cycle 23. It is found that the vast majority of strong DPPs reside within solar wind disturbances. Although the variabilities of geosynchronous magnetic fields (GMFs) due to the impact of positive DPPs have been well established, there appears to be no systematic investigations on the response of GMFs to negative DPPs. Here, we study both the decompression effects of very strong negative DPPs and the compression from strong positive DPPs on GMFs at different magnetic local time sectors. In response to the decompression of strong negative DPPs, GMFs on the dayside near dawn and near dusk on the nightside, are generally depressed. But near the midnight region, the responses of GMF are very diverse, being either positive or negative. For part of the events when GOES is located at the midnight sector, the GMF is found to abnormally increase as the result of magnetospheric decompression caused by negative DPPs. It is known that under certain conditions magnetic depression of nightside GMFs can be caused by the impact of positive DPPs. Here, we find that a stronger pressure enhancement may have a higher probability of producing the exceptional depression of GMF at the midnight region. Statistically, both the decompression effect of strong negative DPPs and the compression effect of strong positive DPPs depend on the magnetic local time, which are stronger at the noon sector.

Local-duality QCD sum rules for strong isospin breaking in the decay constants of heavy-light mesons

Energy Technology Data Exchange (ETDEWEB)

Lucha, Wolfgang [Austrian Academy of Sciences, Institute for High Energy Physics, Vienna (Austria); Melikhov, Dmitri [Austrian Academy of Sciences, Institute for High Energy Physics, Vienna (Austria); M.V. Lomonosov Moscow State University, D.V. Skobeltsyn Institute of Nuclear Physics, Moscow (Russian Federation); University of Vienna, Faculty of Physics, Vienna (Austria); Simula, Silvano [Istituto Nazionale di Fisica Nucleare, Sezione di Roma Tre, Rome (Italy)

2018-02-15

We discuss the leptonic decay constants of heavy-light mesons by means of Borel QCD sum rules in the local-duality (LD) limit of infinitely large Borel mass parameter. In this limit, for an appropriate choice of the invariant structures in the QCD correlation functions, all vacuum-condensate contributions vanish and all nonperturbative effects are contained in only one quantity, the effective threshold. We study properties of the LD effective thresholds in the limits of large heavy-quark mass m{sub Q} and small light-quark mass m{sub q}. In the heavy-quark limit, we clarify the role played by the radiative corrections in the effective threshold for reproducing the pQCD expansion of the decay constants of pseudoscalar and vector mesons. We show that the dependence of the meson decay constants on m{sub q} arises predominantly (at the level of 70-80%) from the calculable m{sub q}-dependence of the perturbative spectral densities. Making use of the lattice QCD results for the decay constants of nonstrange and strange pseudoscalar and vector heavy mesons, we obtain solid predictions for the decay constants of heavy-light mesons as functions of m{sub q} in the range from a few to 100 MeV and evaluate the corresponding strong isospin-breaking effects: f{sub D{sup +}} - f{sub D{sup 0}} = (0.96 ± 0.09) MeV, f{sub D}{sup {sub *}{sub +}} - f{sub D}{sup {sub *}{sub 0}} = (1.18 ± 0.35) MeV, f{sub B{sup 0}} - f{sub B{sup +}} = (1.01 ± 0.10) MeV, f{sub B}{sup {sub *}{sub 0}} - f{sub B}{sup {sub *}{sub +}} = (0.89 ± 0.30) MeV. (orig.)

[THE EPIDEMIOLOGICAL SITUATION OF LEISHMANIASIS IN THE RUSSIAN FEDERATION: THE FIRST VALID CASES OF LOCAL TRANSMISSION].

Science.gov (United States)

Ponrovsky, E N; Strelkova, M V; Zavoikin, V D; Tumolskaya, N I; Mazmanyan, M V; Baranets, M S; Zhirenkina, E N

2015-01-01

The authors have analyzed the data available in the literature and statistical offices and the results of their observations of the epidemiological situation of leishmaniasis in the Russian Federation (RF). In October 1991 to December 2014, the RF registered 89, leishmaniasis cases, including 83 imported cases from 24 countries and 6 local cases. Out of the 83 imported cases, there were those diagnosed with anthroponotic cutaneous leishmaniasis (n=31), zoonotic cutaneous leishmaniasis (n=20), visceral leishmaniasis (n=31), and mucocutaneous leishmaniasis (n=1). The Republic of Dagestan and Eastern Crimea are visceral Ieishmaniasis-enderpic, areas. The obtained data on the local cases of visceral leisimaniasis in Dagestan and on its sporadic cases in Crimea suggest that it is necessary to conduct epidemiological, epizootological, and entomological surveys in the above areas and to develop a system for visceral leishmaniasis epidemiological surveillance encompassing the whole package of antiepidemic measures. The effective treatment of leishmaniases requires that the RF Ministry of Health should register some current antileishmanial drugs (such as Glucantime) as soon as possible.

Fragile-to-strong transition in liquid silica

Science.gov (United States)

Geske, Julian; Drossel, Barbara; Vogel, Michael

2016-03-01

We investigate anomalies in liquid silica with molecular dynamics simulations and present evidence for a fragile-to-strong transition at around 3100 K-3300 K. To this purpose, we studied the structure and dynamical properties of silica over a wide temperature range, finding four indicators of a fragile-to-strong transition. First, there is a density minimum at around 3000 K and a density maximum at 4700 K. The turning point is at 3400 K. Second, the local structure characterized by the tetrahedral order parameter changes dramatically around 3000 K from a higher-ordered, lower-density phase to a less ordered, higher-density phase. Third, the correlation time τ changes from an Arrhenius behavior below 3300 K to a Vogel-Fulcher-Tammann behavior at higher temperatures. Fourth, the Stokes-Einstein relation holds for temperatures below 3000 K, but is replaced by a fractional relation above this temperature. Furthermore, our data indicate that dynamics become again simple above 5000 K, with Arrhenius behavior and a classical Stokes-Einstein relation.

Fragile-to-strong transition in liquid silica

Directory of Open Access Journals (Sweden)

Julian Geske

2016-03-01

Full Text Available We investigate anomalies in liquid silica with molecular dynamics simulations and present evidence for a fragile-to-strong transition at around 3100 K-3300 K. To this purpose, we studied the structure and dynamical properties of silica over a wide temperature range, finding four indicators of a fragile-to-strong transition. First, there is a density minimum at around 3000 K and a density maximum at 4700 K. The turning point is at 3400 K. Second, the local structure characterized by the tetrahedral order parameter changes dramatically around 3000 K from a higher-ordered, lower-density phase to a less ordered, higher-density phase. Third, the correlation time τ changes from an Arrhenius behavior below 3300 K to a Vogel-Fulcher-Tammann behavior at higher temperatures. Fourth, the Stokes-Einstein relation holds for temperatures below 3000 K, but is replaced by a fractional relation above this temperature. Furthermore, our data indicate that dynamics become again simple above 5000 K, with Arrhenius behavior and a classical Stokes-Einstein relation.