Seismic Qualification of Equipment by Means of Probabilistic Risk Assessment. [PWR]

Upon the sponsorship of the Equipment Qualification Branch (EQB) of NRC, Brookhaven National Laboratory (BNL) has utilized a risk-based approach for identifying, in a generic fashion, seismically risk-sensitive equipment. It is anticipated that the conclusions drawn therefrom and the methodology employed will, in part, reconcile some of the concerns dealing with the seismic qualification of equipment in operating plants. The approach taken augments an existing sensitivity analysis, based upon the WASH-1400 Reactor Safety Study (RSS), by accounting for seismicity and component fragility with the Kennedy model and by essentially including the requisite seismic data presented in the Zion Probabilistic Safety Study (ZPSS). Parametrically adjusting the seismic-related variables and ascertaining their effects on overall plant risk, core-melt probability, accident sequence probability, etc., allows one to identify those seismically risk-sensitive systems and equipment. This paper describes the approach taken and highlights the results obtained thus far for a hypothetical pressurized water reactor (PWR)

A Novel Missense Mutation in the TGF-beta-binding Protein-Like Domain 3 of FBN1 Causes Weill-Marchesani Syndrome with Intellectual Disability

BACKGROUND: Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by locus heterogeneity and variable expressivity. Patients suffering from WMS are described by short stature, brachydactyly, joint stiffness, congenital heart defects, and eye abnormalities. This disorder is inherited in two different modes; the autosomal dominant form of the disease occurs due to a mutation in FBN1, and the recessive form results from mutations in ADAMTS10, ADAMTS17, or LTP2 genes. MATERIALS AND METHODS: The family recruited in this study was a consanguineous Iranian family with an intellectually disabled girl referred to the Sadra Genetics laboratory, Shahrekord, Iran. The clinical history of family members was investigated. Whole-Exome Sequencing (WES) for the proband was performed. Sanger sequencing was used to assess the segregation of candidate variants in the other family members. RESULTS: Whole-exome sequencing analysis revealed a novel heterozygote mutation in the proband located at the third TGF-beta-binding protein-like (TB) domain of the FBN1 gene (NM000138: c.2066A>G: (p. Glu689Gly), NP000129.3, in exon 17 of the gene). Co-segregation analysis with Sanger sequencing confirmed this mutation in the affected members of the pedigree. CONCLUSION: Our findings represent an autosomal dominant form of specific WMS resulting from a substitution mutation in the FBN1 gene. In addition to the typical manifestations of the disorder, mild intellectual disability (ID) was identified in the 8-year-old proband. Given the fact that ID is primarily reported in ADAMTS10 mutated cases, this family was clinically and genetically a novel case

Coronary Risk Factors in Patients with Coronary Artery Ectasia : A Case-Control Study from Iran

Coronary artery ectasia is a rare finding in angiography. We investigated the prevalence of coronary artery ectasia and assessed cardiovascular risk factors as probable influencing factors in this disease in our region. This study was conducted from October 2007 to March 2010 on 2500 patients visiting Imam Reza and Qaem and Razavi hospitals, Mashhad, Iran who had chest pain and were selected for angiographic studies. The study was based on reviewing angiographic films besides filling in questionnaires. 103 coronary artery ectasia cases showing 4% prevalence for this kind of coronary involvement were selected as the study group and compared with 62 patients with atherosclerosis and no ectasia as the control group. Mean age of the study and control group was 57.6 and 54.1yrs, respectively indicating a statistically significant difference (p=0.032). The study and control groups showed no significant difference based on sex, smoking history and mean Body Mass Index (BMI). However, a BMI above 25 had a significantly higher prevalence in the study group (p=0.036). Mean hs-CRP and homocystein levels were 3.4 and 11.8 in the study group and 2.3 and 8.3 in the control group, respectively, both revealing a significant difference (p=0.002, p<0.001). Hyperlipidemia in ectasia patients in comparison to controls was significantly more prevalent (p=0.001). The prevalence of coronary artery ectasia was 4% and cardiovascular risk factors in ectasia cases included: hyperlipidemia, high hs-CRP, and homocystein

Evaluation of Clinical and Laboratory Data in Patients with Recurrent Infections and Suspected Immunodeficiency

Background: Frequent infections is among the most frequent clinical dilemmas for primary care physicians. Immunodeficiency disorders are a heterogeneous group of illnesses that predispose patients to the recurrent infections, autoimmunity and malignancies. The aim of this study was to evaluate the clinical and laboratory data collected for the final diagnosis of patients referred with recurrent infections and suspected immunodeficiency to a local immunodeficiency clinic.   Methods: This epidemiological study was carried out between April 2010 and September 2012 at the Immunodeficiency Clinic of Mashhad. All patients with clinical manifestations of immunodeficiency who were referred to our clinic during this period of time were included in this study. 41 patients aged from 10 months to 51 years, were evaluated. Results: Forty one patients, aged between 10 months and 51 years were evaluated. Eleven patients had a primary immunodeficiency, four cases had a secondary immunodeficiency, in three patients an underlying structural disease were found, eight patients were predisposed to recurrent infections as a result of allergies and finally, fifteen cases were found to be normal individuals.   Discussion: Most patients with recurrent infection have a normal immune system. Allergic disorders are the most common predisposing factor to recurrent infection. However, as immunodeficiency disorders are potentially serious, early diagnosis can improve the quality of life and outcome and prevent severe sequels in future