نتایج جستجو برای: intrafamilial
تعداد نتایج: 714 فیلتر نتایج به سال:
A survey was undertaken in an urban community to examine the intrafamilial epidemiology of toxoplasma infection and its relation to a set of environmental variables. Statistically significant relations were found with (a) ownership of a dog or cat; (b) the handling of pet food, particularly cat food; and (c) a "risk" score compounded from the handling of pet food and lack of cleanliness in the ...
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation ...
OBJECTIVES To determine (1) detailed retinal and audiological features of probands harboring the A3243G mitochondrial DNA mutation (m.3243A>G) and their asymptomatic maternal relatives, (2) intrafamilial and interfamilial phenotypic variability, and (3) the presence of other systemic features. METHODS Seven probands harboring the A3243G mitochondrial DNA mutation and 36 asymptomatic maternal ...
PURPOSE To evaluate the intrafamilial phenotypic variation in Stargardt macular dystrophy-Fundus flavimaculatus (SMD-FFM). METHODS Thirty-one siblings from 15 families with SMD-FFM were examined. Age of onset, visual acuity, and clinical features on fundus examination and fundus autofluorescence images, including presence or absence of central and peripheral atrophy and distribution of flecks...
BACKGROUND Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and schizophrenia. Beyond language and global cognition, neuropsychological assessments of these two CNVs have not yet been reported. METHODS This study investigates the relationship between the number of genomic copies at the 16p11.2 ...
BACKGROUND The most frequent form of autosomal dominant hereditary spastic paraparesis is associated with the SPG4 locus, described originally as a pure form of the disease. Mutations of the SPG4 gene have been increasingly associated with reports of cognitive impairment. OBJECTIVE To investigate cognitive function in 10 families with hereditary spastic paraparesis due to mutations in the SPG...
While the overall prevalence of hepatitis B virus (HBV) infection in Portugal is around 1%, there are no published studies examining HBV genotypes in this country. This study aimed to survey HBV genotypes in the northern Portugal and to examine the possible associations between genotypes and gender, viral transmission routes, viral markers, viral load, and biochemical tests of liver function. T...
OBJECTIVE This review examines the clinical outcomes associated with exposure to chronic intrafamilial trauma and explores the treatment of the psychological, biological and cognitive sequelae. METHOD The existing research literature on the subject was collected, using Index Medicus/MEDLINE, Psychological Abstracts and the PILOTS database. The research findings were supplemented with clinical...
PURPOSE To present a previously unreported four generation affected Mexican pedigree with congenital hereditary aculeiform cataract caused by a mutation in the gammaD-crystallin (CRYGD) gene. METHODS A four generation family with 14 available members of whom 8 were affected was analyzed. Interventions included complete ophthalmological examination, cataract phenotype characterization, PCR amp...
Background: It is generally agreed that HCV can be efficiently transmitted parenterally, although data on HCV transmission by non-parenteral routes such as sexual and nonsexual household contacts are conflicting. HCV is highly prevalent in Egypt. Aim: To investigate HCV transmission between spouses, the burden and the potential risk factors of sexual and nonsexual transmission to prevent intraf...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید