Search results for "Sibling"
showing 10 items of 123 documents
Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene
2020
Abstract Aim The aim of the present study was to identify the affected gene in a French family with maturity-onset diabetes of the young (MODY) using whole-exome sequencing (WES). Methods WES was performed in one patient with MODY, and candidate variants were confirmed in members of the immediate family by Sanger sequencing. Results In the proband, a new heterozygous missense mutation (c.340A>C) was identified in the NEUROD1 gene by WES analysis and confirmed by Sanger sequencing. Additional Sanger sequencing of the proband's sister and mother revealed the same heterozygous mutation. The proband and his sister displayed typical clinical characteristics of MODY, while their mother had the sa…
Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene
2003
Abstract We describe a Sicilian family presenting a recessive form of hypercholesterolemia harboring a mutation of the autosomal recessive hypercholesterolemia (ARH) gene. In two of the three sibs, a 26-year-old male and a 22-year-old female, a severe hypercholesterolemia was diagnosed with very high levels of plasma cholesterol (15.9 and 12.2 mmol/l, respectively); tendon xanthomatas and xanthelasms were present and in the male proband was documented a diffuse coronary atherosclerotic disease with a rapid and fatal progression. Both the parents had normal or slightly increased levels of plasma cholesterol. All causes of secondary hypercholesterolemia were ruled out as well as an involvemen…
Sibship size, birth order and psychotic experiences: Evidence from 43 low- and middle-income countries.
2018
Background: Sibship size and birth order may be contributing factors to the multifactorial etiology of psychosis. Specifically, several studies have shown that sibship size and birth order are associated with schizophrenia. However, there are no studies on their association with psychotic experiences (PE). Methods: Cross-sectional, community-based data from 43 low- and middle-income countries which participated in the World Health Survey were analyzed. The Composite International Diagnostic Interview was used to identify four types of past 12-month PE. The association of sibship size and birth order with PE was assessed with multivariable logistic regression. Results: The final sample consi…
Examining facial emotion recognition as an intermediate phenotype for psychosis: Findings from the EUGEI study
2022
The EUGEI project was supported by the European Community’s Seventh Framework Program under grant agreement No. HEALTH-F2- 2009-241909 (Project EU-GEI). Dr. Arango was supported by the Spanish Ministry of Science and Innovation; Instituto de Salud Carlos III (SAM16-PE07CP1, PI16/02012, PI19/024); CIBERSAM (...)
Subclinical thought disorder in first-degree relatives of schizophrenic patients. Results from a matched-pairs study with the Thought Disorder Index
1995
To assess the frequency and quality of formal thought disorder in schizophrenic patients and their first-degree relatives, a consecutive series of 36 unmedicated patients, 20 siblings of these patients and 37 normal control subjects were examined with Holzman's Thought Disorder Index (TDI). As a proof of the internal validity of this tool, the patients demonstrated significantly more thought disorder than the controls as measured by the TDI total score and various subscores, which proved the internal validity of this tool in a German-speaking sample. In addition, in a pairwise comparison with controls who were individually matched by age and sex the patients' siblings had a significantly hi…
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
2014
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849…
Probing birth-order effects on narrow traits using specification-curve analysis
2017
The idea that birth-order position has a lasting impact on personality has been discussed for the past 100 years. Recent large-scale studies have indicated that birth-order effects on the Big Five personality traits are negligible. In the current study, we examined a variety of more narrow personality traits in a large representative sample ( n = 6,500–10,500 in between-family analyses; n = 900–1,200 in within-family analyses). We used specification-curve analysis to assess evidence for birth-order effects across a range of models implementing defensible yet arbitrary analytical decisions (e.g., whether to control for age effects or to exclude participants on the basis of sibling spacing).…
Peripheral Oxidative Stress Markers in Patients with Bipolar Disorder during Euthymia and in Siblings.
2020
Aims:Oxidative stress is increased during the acute phases of bipolar disorder (BD). Our aim here was to analyze oxidative stress biomarkers in patients with BD during euthymia and their siblings.Method:A cross-sectional study was performed in euthymic patients with BD-I (n=48), unaffected siblings (n=23) and genetically unrelated healthy controls (n=21). Protein carbonyl content (PCC), total antioxidant capacity (TRAP), lipid peroxidation (TBARS) and uric acid were measured as biomarkers of oxidative stress in blood.Results:The antioxidant capacity (TRAP) was lower (p<0.001) in patients with BD compared to their siblings and controls, whereas no differences were observed in PCC, TBARS o…
Partial T Cell-Depleted Peripheral Blood Stem Cell Transplantation from HLA-Identical Sibling Donors for Patients with Severe Aplastic Anemia
2019
We analyzed the outcomes of 26 consecutive patients with acquired severe aplastic anemia (SAA) undergoing peripheral blood stem cell transplantation (PBSCT) with partial ex vivo T cell depletion with a targeted T cell dose from HLA-identical sibling donors. The median patient age was 37 years (range, 3 to 63 years). Four patients with uncontrolled pneumonia at the time of transplantation died, on days +1, +2, +21, and +26. All evaluable patients engrafted, with a median time to neutrophil recovery of 11 days (range, 10 to 14 days) and a median time to platelet recovery of 19 days (range, 8 to 53 days). Two patients had transient grade I acute graft-versus-host disease (GVHD) with skin invol…
Reduced intensity conditioning HLA identical sibling donor allogeneic stem cell transplantation for patients with follicular lymphoma: long-term foll…
2010
Background Allogeneic hematopoietic stem cell transplantation is an effective treatment for patients with poor risk lymphoma, at least in part because of the graft-versus-lymphoma effect. Over the past decade, reduced intensity conditioning regimens have been shown to offer results similar to those of conventional high-dose conditioning regimens but with lower toxicity early after transplantation, especially in patients with chemosensitive disease at transplant. Design and Methods The aim of this study was to analyze the long-term outcome of patients with follicular lymphoma who received an HLA identical sibling allogeneic stem cell transplant with a reduced intensity conditioning regimen w…