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Radiographic Features of Osteogenesis Imperfecta about a Female Sibship

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Open Journal of Medical Imaging 2020年第1期10卷 52-61页

作者： B. M. A. Tiemtore-Kambou A. M. Napon N.-A. Ndé-Ouédraogo A. Koutou I. F. N. Sieba I. Ouédraogo O. Diallo R. Cissé Joseph Ki Zerbo University Ouagadougou Burkina Faso Bogodogo Teaching Hospital Ouagadougou Burkina Faso Charles de Gaulle Pediatric Teaching Hospital Ouagadougou Burkina Faso Yalgado Ouedraogo Teaching Hospital Ouagadougou Burkina Faso

Osteogenesis imperfecta (OI) belongs to a group of congenital osteoporosis which hallmark feature is “affecting skeleton, increasing bone fragility that fracture easily and decreasing bone density due to quantitative and/or qualita-tive abnormalities”. We report a female sibling’s involvement in 3 cases with probable recessive inheritance pattern. Only female aged between 5 and 13 years were affected with skeletal lesions in the lower limbs. The boy of this family had no skeletal or extra-skeletal lesions. Their parents had no affection and no bond of consanguinity. The observed malformations can be classified as type V or VI according to Sillence’s clinical classification. Lack of genetic test in our context has limited accuracy of the diagnosis as new data evoke a genetic classification into 12 types that leading an effective therapeutic management.

关键词： Osteogenesis Imperfecta familial Involvement Female Radiological Features Recessive Mode

Arrhythmogenic right ventricular cardiomyopathy: From genetics to diagnostic and therapeutic challenges

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World Journal of Cardiology 2014年第12期6卷 1234-1244页

作者： Bruno Pinamonti Francesca Brun Luisa Mestroni Gianfranco Sinagra Cardiovascular Department Ospedali Riuniti of Trieste34100Trieste Italy Cardiovascular Institute and Adult Medical Genetics Program University of Colorado Denver AMC Aurora CO 80045-2507 United States

Arrhythmogenic right ventricular cardiomyopathy(ARVC) is a genetic disease characterized by myocyte loss and fibro-fatty tissue replacement. Diagnosis of ARVC remains a clinical challenge mainly at its early stages and in patients with minimal echocardiographic right ventricular(RV) abnormalities. ARVC shares some common features with other cardiac diseases, such as RV outflow ventricular tachycardia, Brugada syndrome, and myocarditis, due to arrhythmic expressivity and biventricular involvement. The identification of ARVC can be often challenging, because of the heterogeneous clinical presentation, highly variable intra- and inter-family expressivity and incomplete penetrance. This genotypephenotype "plasticity" is largely unexplained. A familial history of ARVC is present in 30% to 50% of cases, and the disease is considered a genetic cardiomyopathy, usually inherited in an autosomal dominant pattern with variable penetrance and expressivity; in addition, autosomal recessive forms have been reported(Naxos disease and Carvajal syndrome). Diagnosis of ARVC relays on a scoring system, with major or minorcriteria on the Revised Task Force Criteria. Implantable cardioverter defibrillators(ICDs) are increasingly utilized in patients with ARVC who have survived sudden death(SD)(secondary prevention). However, there are few data available to help identifying ARVC patients in whom the prophylactic implantation of an ICD is truly warranted. Prevention of SD is the primary goal of management. Pharmacologic treatment of arrhythmias, catheter ablation of ventricular tachycardia, and ICD are the mainstay of treatment of ARVC.

关键词： cardiomyopathy tachycardia Brugada diagnostic genetics familial unexplained outflow inherited challenging

The Cell Biology of Systemic Hyperinflammation Resulting from Failed Cytolytic Target Cell Killing

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CellBio 2015年第3期4卷 37-45页

作者： Bor Luen Tang Department of Biochemistry Yong Loo Lin School of Medicine National University of Singapore Singapore

Mutations in genes encoding a key component of cytotoxic granules, or the machinery for their release, underlie the systemic hyperiflammatory symptoms of familial hemophagocytic lymphohistiocytosis (FHL), a typically pediatric onset autosomal recessive disorder with five known genetic subtypes (FHL1 - 5). FHL1 mutations have been mapped to chromosome 9, while the respective genes mutated in FHL2 (PRF1), FHL3 (UNC13D/Munc13-4), FHL4 (STX11) and FHL5 (STXBP2/ Munc18b/Munc18-2) have been identified. Perforin gene mutation directly affected the cytolytic activity of the cytotoxic granules. All the other FHL mutations appear to affect some aspect of cytotoxic granule exocytosis, resulting in impaired target cell killing by cytolytic T lymphocytes (CTLs) and/or natural killer (NK) cells. Recent findings suggest that failure to kill and detach from target cells, and prolonged synapse connection time, promote cytokine hypersecretion by the defective CTLs and NKs, which in turn result in systemic inflammation. Deciphering the genetics of FHL has contributed towards our understanding of the cell biology of hyperinflammatory responses and hemophagocytic lymphohistiocytosis accompanying pathological conditions such as cancer and viral infections.

关键词： Cytokine Storms Cytolytic T Lymphocytes (CTLs) familial Hemophagocytic Lymphohistiocytosis (FHL) Natural Killer (NK) Cells Hyperinflammation

DISTAMYCIN A/DAPI BANDING TECHNIQUE AND ITS APPLICATION

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Chinese Science Bulletin 1984年第4期29卷 543-545页

作者：董兆文肖桂芳汪安琦 Institute of Genetics Academia Sinica Beijing

Distamycin A/DAPI (4’-6-diamidino-2-phenylindole) banding technique has been developed recently to produce bright fluorescence of the constrictions (qh) of human chromosomes 1, 9 and 16, long arm of chromosome Y (Yq) and short arm of chromosome 15 (15p). The 15p specific band can be used to study the origin of extra chromosome. We have reported a familial extra chromosome, and demonstrated that the extra chromosome originates from the translocation of short arms of D- or G-group chro-

关键词： chromosome DAPI translocation banding familial Chromosome bright dissolved preparations briefly

Homicide in southern India—A five-year retrospective study

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Forensic Medicine and Anatomy Research 2013年第2期1卷 18-24页

作者： Sachidananda Mohanty Sujan Kumar Mohanty Kiran Kumar Patnaik Department of Forensic Medicine and Toxicology M.K.C.G. Medical College Berhampur India Department of Forensic Medicine Minakhi Medical College Kanchipuram India

Homicide has become a common practice reflecting anger in southern India. The purpose of this study was to identify the potential risk factors and susceptible victims. This retrospective study analyses the data of 590 cases. Our study revealed that the victims were mostly males of 21 - 30 years, married (63.56%), illiterates (44.07%), low socioeconomic status and belong to rural areas. The laborers and farmers were almost equally affected in males and housewives in females. Outdoor incidents were more (61.86%). Majority of victims were innocent (82.20%) with no previous history of cognizable offence. Blood alcohol was found positive in 30.23% of victims. Sharp cutting weapons were mostly used, with hemorrhage and shock being the most common cause of death. Previous enmity and familial disharmony were the two common causes behind such heinous crime. Most victims had injuries over multiple body parts. Some potential risk factors and their preventive measures pointed at the end.

关键词： Autopsy Homicide familial Disharmony Victim

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INFECTIOUS DISEASE

China Medical Abstracts(Internal Medicine) 2000年第2期17卷 70-72页

A Review of Pediatric Cardiovascular Risk Factors and Current Guidelines

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World Journal of Cardiovascular Surgery 2018年第4期8卷 61-92页

作者： Deeksha Sarma Lawrence M. Benedict Achintya Moulick Randy Stevens Vicki Mahan Department of Pediatric Cardiothoracic Surgery Drexel University College of Medicine St. Christopher’s Hospital for Children Philadelphia USA

Dyslipidemia is a highly prevalent condition, and includes a collection of diseases that cause increased levels of plasma triglycerides and/or cholestrol, or decreased levels of HDL-C, with a prototypical disease being familial hypercholesterolemia. Dyslipidemic conditions promote increased atherogenesis through the oxidation of lipids by macrophages, and an increased response to injury by the vascular endothelium. This vascular damage, loss of vascular compliance, and overall hardening of arteries lead to sequellae such as cardiovascular disease, cerebrovascular events, and aneurysm formation. It has been established that certain risk factors predispose individuals to the sequellae of atherosclerosis, including smoking, diabetes, hypertension, and hyperlipidemia. However, studies show that these risk factors can be seen in children as well. This review aims to assess the effect of these risk factors and demonstrate their effects through adolescence into adulthood.

关键词： Cardiovascular Disease familial Hypercholesterolemia Dyslipidemia Atherosclerosis

The Loeys-Dietz syndrome

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外科研究与新技术 2010年第3期19卷 217-219页

作者：杨明烽钱振宇左克强 The Department of General Surgery Tongji Hospital of Tongji University

The Loeys-Dietz syndrome(LDS),first described in 2005 and named after two of the authors of the original article to establish the syndrome,is an autosomal dominant aortic aneurysm syndrome

关键词： dissection autosomal aneurysm thoracic bifid aorta designated involvement altered familial

CARDIOVASCULAR SYSTEM

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China Medical Abstracts(Internal Medicine) 2000年第3期17卷 153-161页