Search results for "Family health"
showing 10 items of 78 documents
A TRAPPC6B splicing variant associates to restless legs syndrome
2016
Abstract INTRODUCTION: RLS is a common movement disorders with a strong genetic component in its pathophysiology, but, up to now, no causative mutation has been reported. METHODS: We re-evaluated the previously described RLS2 family by exome sequencing. RESULTS: We identified fifteen variations in the 14q critical region. The c.485G > A transition of the TRAPPC6B gene segregates with the RLS2 haplotype, is absent in 200 local controls and is extremely rare in 12988 exomes from the Exome Variant Server (EVS). This variant alters a splicing site and hampers the normal transcript processing by promoting exon 3-skipping as demonstrated by minigene transfection and by patient transcripts. CON…
The relationship between type 2 diabetes family history, body composition and blood basal glycemia in sedentary people.
2013
The aim of this study was to verify whether there is a positive correlation between family history to type 2 diabetes mellitus and body mass and composition, and alterations in blood basal glycaemia levels in sedentary male and female. Anthropometric variables, blood parameters, body composition and body surface area were evaluated on 183 male and 237 female sedentary individuals. Participants were classified into two groups: FH(+) (family history positive) and FH(-) (familiar history negative) according to their medical history. The FH(+) group showed higher values of body mass and body surface area than FH(-) group. These differences were statistically significant (p < 0.05) for the femal…
Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and red…
2008
A 32-year-old female patient, observed for 30 years because of a distinctive phenotype consisting of a dysmorphic face non-progressive deficit of motor control, lack of speech development, reduced sensitivity to pain, with a known, complex interstitial deletion 6q14 within a de novo pericentric inversion 6p11.2;q15, was re-examined at the molecular level. Applying the Infinium HumanHap300 BeadChip array and BAC-based FISH we found two new non-contiguous microdeletions in addition to the one detected previously by high resolution G-band analysis. A 360 kb loss in band 6p12.3, containing the genes RHAG, CRISP1, 2, and 3, and PGK2, a 1.15 Mb loss in 6p12.2-p12.1, containing the genes PKHD1, IL…
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients
2000
Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA expansion were screened for point mutations within the FRDA coding region. Molecular analyses included the single-strand conformation polymorphism analysis, direct sequencing, and linkage analysis with FR…
Predictability of early atopy by cord blood-IgE and parental history.
1997
Summary Background Atopic family history and cord blood IgE have been used as predictors of atopic disease in newborns for about 20 years, but at least for cord blood IgE the sensitivity has been shown to be very low. The objective of this paper was to evaluate whether parental history and cord blood-IgE were more accurate predictors for the appropriate atopic phenotypes in the infants rather than for any atopy. Methods A total of 1314 newborn infants was recruited in six German obstetric departments in 1990 and followed-up for 2 years. Four hundred and ninty-ninc (38%) were at high risk for atopy with at least two first degree atopic family members and/or elevated cord-blood IgE concentrat…
Emotional distress in family caregivers of adolescents with bronchial asthma: analysis of its predictors
2017
Adolescents with asthma face problems inherent to this stage in their development, to which the challenges of taking over control of their disease, complying with a daily treatment and regular medical followup are added. Any rejection generated by this may lead to treatment non-adherence and poor asthma control, which brings about problems in family dynamics, made worse by the stress or the emotional distress that this situation causes in caregivers.Identify adjustment profiles and predictors of risk for the well-being of caregivers of pediatric patients with bronchial asthma.Seventy-nine family caregivers of pediatric patients with bronchial asthma. Instruments were used to assess the emot…
Genetic and environmental contributions to serum ascorbic acid concentrations: the Stanislas Family Study.
2006
Although numerous environmental factors are documented to influence serum ascorbic concentrations, little is known about the genetic versus environmental contributions to variation of this trait. The aim of this study was to estimate family correlation and, additive genetic heritability and household effects in a variance component analysis for serum ascorbic acid concentrations. In a sample of ninety French families, information was obtained regarding serum ascorbic acid concentrations, usual dietary intake, lifestyle, and other related covariates. Spouse, parent –offspring and offspring –offspring significant correlation coefficients for serum ascorbic acid concentrations, adjusted for ag…
Homozygous familial hypercholesterolemia with severe involvement of the aortic valve—A sibling‐controlled case study on the efficacy of lipoprotein a…
2020
Background Homozygous familial hypercholesterolemia (hoFH) can cause severe atherosclerotic cardiovascular disease (ASCVD) in early infancy. Diagnosis and initiation of effective lipid-lowering therapy (LLT) are recommended as early as possible to prevent ASCVD-related morbidity and mortality. Methods The clinical courses of a pair of siblings with an identical hoFH genotype, who exhibited major similarities of their clinical phenotype were analyzed in a case-control fashion including the family. Results The older sibling was diagnosed with hoFH at the age of 4. Untreated LDL-cholesterol (LDL-C) was 17 mmol/L (660 mg/dL). LLT including lipoprotein apheresis (LA) was initiated and has been s…
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
2011
Abstract Background Autosomal dominant hypercholesterolemias (ADHs) are characterised by increased plasma levels of total and LDL cholesterol, predisposing to premature atherosclerosis. ADHs comprise several diseases with undistinguishable phenotype, caused by mutations in different genes: LDLR, APOB and PCSK9. Genetic studies are usually performed in patients with altered cholesterol levels. However, some persons carrying pathogenic mutations are normocholesterolemic and there are no further studies about this subject. We have studied the frequency of families and individuals carrying ADH mutations who do not present the disease in Spanish population. Methods We have analysed genes known t…
Infant information processing and family history of specific language impairment: converging evidence for RAP deficits from two paradigms
2007
An infant's ability to process auditory signals presented in rapid succession (i.e. rapid auditory processing abilities [RAP]) has been shown to predict differences in language outcomes in toddlers and preschool children. Early deficits in RAP abilities may serve as a behavioral marker for language-based learning disabilities. The purpose of this study is to determine if performance on infant information processing measures designed to tap RAP and global processing skills differ as a function of family history of specific language impairment (SLI) and/or the particular demand characteristics of the paradigm used. Seventeen 6- to 9-month-old infants from families with a history of specific l…