Search results for "Familial"
showing 10 items of 365 documents
Neuronal ceroid-lipofuscinosis--late-infantile or Jansky-Bielschowsky type--revisited.
1996
Among the now eight genetic types of neuronal ceroid-lipofuscinoses (NCL), CLN1 to CLN8, CLN2 is considered classic late-infantile NCL. It was originally described by Janský in a family of eight children with four of them affected [Janský J (1908) Sborn Lek 13:165-196] and, subsequently, by Bielschowsky in a family of three children each of whom was affected, and, hence, termed Janský-Bielschowsky type of NCL. Earlier, archival studies of Bielschowsky's original post-mortem tissue blocks had documented accumulation of autofluorescent lipopigments with a curvilinear ultrastructure. In a subsequent study, described here, immunohistochemical absence of the CLN2-related lysosomal enzyme tripept…
A proposal to redefine familial combined hyperlipidaemia -- third workshop on FCHL held in Barcelona from 3 to 5 May 2001, during the scientific sess…
2002
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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.
The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: Results from the ScreenPro FH Project
2019
Purpose of Review Familial hypercholesterolemia (FH) is often perceived and described as underdiagnosed and undertreated, though effective treatment of FH is available. Owing to the mentioned facts, it is ever more imperative to screen and treat FH patients. Subsequent to the identification of patients, the project focuses on the improvement of their prognoses. The ScreenPro FH project was established as a functional international network for the diagnosis, screening, and treatment of FH. Individual countries were assigned goals, e.g., to define the actual situation and available treatment. With “central support,” more centers and countries participated in the project. Subsequently, individ…
0133 : Identifying familial hypercholesterolemia from registries of patients with acute myocardial infarction: an algorithm-based approach
2016
Background and aim Familial hypercholesterolemia (FH) is at very high risk of early myocardial infarction (MI). The prevalence of FH, which is estimated to be at least 1:500 in the general population, remains unclear in patients with acute MI. From databases of 3 French regional and nationwide registries of acute MI (RICO and FAST-MI 2005 and 2010, respectively), we aimed to determine FH prevalence by developing a specific algorithm. Methods and results Consecutive patients with AMI ≤48 hours of onset included 1) in FAST-MI : during a one-month period in 223 institutions at the end of 2005 and 213 institutions at the end of 2010, and 2) in RICO :from January 2001 – December 2013 (≈ 13 y), w…
Evaluation Of Massive Parallel Sequencing As A Diagnostic Tool For Familial Hypercholesterolemia
2015
Abstract Familial hypercholesterolemia (FH) is one of the most common single gene disorders, which is mostly inherited as an autosomal dominant trait. The physical signs of FH are elevated low density lipoprotein cholesterol (LDL-C), elevated total cholesterol (TC) levels and tendon xantomas. Identification and early treatment of affected individuals is desirable and in lack of physical symptoms DNA-based diagnosis provides confirmation of diagnosis and enables early patient management. The majority of FH cases are caused by mutations in four genes (APOB, LADLR, PCSK9, and LDLRAP1). There are commercial kits available for testing of the 20 most common FH causing mutations, but the spectrum …
Corrigendum to “Polyvascular subclinical atherosclerosis in familial hypercholesterolemia: The role of cholesterol burden and gender” [Nutr Metab Car…
2019
International audience; Background and aim: Heterozygous familial hypercholesterolemia (HeFH) is a genetic disease characterized by a heterogeneous phenotype. The assessment of cardiovascular (CV) risk is challenging for HeFH. Cholesterol burden (CB) allows to estimate the lifelong exposure to high levels of cholesterol. The aim of this study was to analyze the distribution of subclinical athero-sclerosis and the relationship between atherosclerosis and the CB in a sample of HeFH patients, focusing on sex-related differences. Methods and Results: 154 asymptomatic HeFH subjects underwent coronary-artery-calcium score (CACs) and Doppler ultrasound of carotid and femoral arteries. Yearly lipid…
“European Panel on Low Density Lipoprotein (LDL) Subclasses”: A Statement on the Pathophysiology, Atherogenicity and Clinical S…
2011
Aim of the present Consensus Statement is to provide a comprehensive and up to-date document on the pathophysiology, atherogenicity and clinical significance of low density lipoproteins (LDL) subclasses. We sub-divided our Statement in 2 sections: section I discusses the pathophysiology, atherogenicity and measurement issues, while section II is focused on the effects of drugs and lifestlyle modifications. Suggestions for future research in the field are highlighted at the end of section II. Each section includes Conclusions.
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