Search results for " familial"

FABP4 plasma levels are increased in familial combined hyperlipidemia

2010

The lipid profile of familial combined hyperlipidemia (FCHL) shares some characteristics with atherogenic dyslipidemia seen in diabetes, metabolic syndrome, and obesity. Adipocyte fatty acid-binding protein 4 (FABP4) appears to be a determinant of atherogenic dyslipidemia. We examined relationships between FABP4 plasma concentrations, dyslipidemia, and metabolic variables in patients with FCHL. We studied 273 unrelated FCHL patients and 118 control subjects. FABP4 was higher in FCHL than controls, with mean levels of 21.8 (10.1) microg/l and 19.2 (9.2) microg/l, respectively (adjusted P= 0.012). In FCHL, FABP4 correlated to body mass index (BMI), waist circumference, insulin levels, and hom…

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

2014

Item does not contain fulltext Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a mono…

PARKINSON’S DISEASE AND PARKINSON’S DISEASE FAMILIAL HISTORY. RESULTS OF A CASE-CONTROL STUDY

2011

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and …

2016

WOS: 000393031600001

Neuropsychologic phenotypes in familial hemiplegic migraine

2003

Familial hemiplegic migraine (FHM) is a rare autosomal dominant-type migraine with aura. Attacks are characterised by hemiparesis in addition to other aura and migraine symptoms. Few studies have examined the influence of FHM on cognitive functions. This study was aimed to investigate neuropsychological functions in 3 adolescent siblings suffering from FHM assessed six months after the last attack. No relevant deficits were found on a battery of multisectorial tests exploring cognitive functions. Sporadic FHM attack therefore seems not to affect cognition in these patients, at least far from the crises.

Dynamics of institutional and family ties of the child placed in foster care : the contribution of attachment theory and the psychodynamic approach

2019

This research studies dynamics of the institutional and family ties of the foster child with a complementary approach that articulates attachment theory and a psychodynamic perspective. METHODOLOGY. Through a mixed (quantitative and qualitative) and longitudinal (one year) methodology, the research was conducted with ten children (N=10) who have just arrived for the first time in foster care and professionals (N=17) who surround them. Tools used were the CCH, RQ, Ca-mir, Edicode (for attachment) and projective proofs of drawings with semi-structured clinical research interviews (for transfer and counter-transfer investments). RESULTS. Results show that children who have just arrived in fost…

Les politiques familiales en France et au Québec

1987

International audience

Compétences langagières acquises en milieu familial et acquisitions scolaires en cycle 2 : Le cas du créole et du français en contexte martiniquais

2006

06072 - 89 p.; Projet retenu dans l'appel à projet en 2003. ACI Ecole et Sciences cognitives (Ministère délégué à la recherche et aux nouvelles technologies); Ce projet vise en particulier à répondre à trois questions : Le niveau de langage en français des enfants créolophones est-il quantitativement et qualitativement différent des enfants de métropole ? Existe t-il une corrélation entre les compétences langagières dans l'une et l'autre langue ? Leur niveau en deux langues exerce t-il un impact sur leurs acquisitions scolaires? Avant de présenter la méthodologie de l'étude, une revue de questions et d'études en matière de bilinguisme est proposée selon deux champs disciplinaires : psycholi…

Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.

2015

Objective: Familial hypobetalipoproteinemia (FHBL) is autosomal codominant disorder of lipoprotein metabolism characterized by low plasma levels of total cholesterol (TC), low-density lipoproteincholesterol (LDL-C) and apolipoprotein B (apoB) below the 5 th percentile of the distribution in the population. Patients with the clinical diagnosis of homozygous FHBL (Ho-FHBL) are extremely rare and few patients have been characterized at the molecular level. Here we report the medical history and the molecular characterization of one paediatric patient with clinical features of Ho-FHBL. Methods: A one month old infant with failure to thrive, severe hypocholesterolemia and acanthocytosis was clin…

No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures

2005

A missense mutation in the gene encoding the alpha(2) Subunit of the Na+,K+ ATPase pump (ATP1A2) was found in a family with both familial hemiplegic migraine (FHM) and Benign Familial Infantile Seizures (BFIC). As it is still unclear whether ATP1A2 is responsible for pure BFIC syndromes, we checked mutations of the ATP1A2 gene in probands of 12 Italian multiplex families with pure BFIC, who were negative for mutations in the SCN2A gene. We screened the ATP1A2 gene by denaturing high performance liquid chromatography (D-HPLC) and direct sequencing of DNA fragments showing an aberrant elution pattern. We found one exonic variant and five intronic variants, none leading to significant amino ac…