Search results for "Familial"

Prevalence, risk factor burden, and severity of coronary artery disease in patients with heterozygous familial hypercholesterolemia hospitalized for …

2019

Individuals with heterozygous familial hypercholesterolemia (FH) are at high risk of early myocardial infarction (MI). However, coronary artery disease (CAD) burden of FH remains not well described, especially for French patients.The objective of this study was to assess the prevalence of FH and severity of CAD from a large database of a French regional registry of acute MI.All consecutive patients hospitalized for an acute MI in a multicenter database from 2001 to 2017 were considered. FH was diagnosed using an algorithm adapted from the Dutch Lipid Clinic Network criteria. The prevalence and clinical features of FH and the severity of CAD were assessed.Among the 11,624 patients included i…

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper fr…

2014

Item does not contain fulltext AIMS: Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights into the heterogeneity of genetic defects and clinical phenotype of HoFH, and the availability of new therapeutic options, this Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance for the recognition and management of HoFH. METHODS AND RESULTS: Early diagn…

LDL apheresis in a homozygous familial hypercholesterolemic child aged 4.5.

1997

Preliminary experience with the efficacy and safety of dextran sulfate cellulose low-density lipoprotein (LDL) apheresis for the treatment of a 4.5-year-old girl with homozygous familial hypercholesterolemia and coronary artery disease is reported. The decrease of the most atherogenic apolipoprotein B-containing lipoproteins, low-density lipoprotein (LDL) and lipoprotein(a) (Lp [a]), were in the ranges of 63.1-68.7%, and 52.5-58.6%, respectively. The child tolerated LDL apheresis without any clinically significant complications. Therefore, she was submitted to a long-term program of treatment at intervals of 15 days. The experience suggests the possibility of an early beginning of extracorp…

La construction familiale du métier d'élève

2015

Reversible graft versus host reaction as cause of erythrophagic splenomegaly in a child?

1977

The case history of a 9 months old infant with hepatosplenomegaly, pancytopnaenia and disturbances of clotting and cellular immune reactivity is reported. The spleen was removed and showed striking erythrophagocytosis by proliferating histiocytes, typical of "familial erythrophagocytic reticulosis" (Farquhar). A graft-versus-host reaction is discussed as a possible underlying cause. The favourable clinical course and full recovery point to an interrelation with primary hypersplenism.

Indicaciones de los inhibidores de PCSK9 en la práctica clínica. Recomendaciones de la Sociedad Española de Arteriosclerosis (SEA), 2019

2019

Resumen Un grupo de expertos convocado por la Sociedad Espanola de Arteriosclerosis (SEA) se ha encargado de actualizar el documento de la SEA sobre las indicaciones de los inhibidores de PCSK9 (iPCSK9) en la practica clinica publicadas en 2016. Esta actualizacion es necesaria porque en el periodo transcurrido hasta la actualidad se han publicado los resultados de los ensayos clinicos realizados a gran escala con iPCSK9 que demuestran que, ademas de su alta potencia para disminuir el colesterol aterogenico, disminuyen el riesgo de presentar episodios de enfermedad cardiovascular aterosclerotica en los pacientes con enfermedad tanto estable como reciente, y con un alto grado de seguridad. La…

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collabora…

2018

PubMed: 30270054

Measuring orthographic transparency and morphological-syllabic complexity in alphabetic orthographies

2017

This narrative review discusses quantitative indices measuring differences between alphabetic languages that are related to the process of word recognition. The specific orthography that a child is acquiring has been identified as a central element influencing reading acquisition and dyslexia. However, the development of reliable metrics to measure differences between language scripts hasn’t received much attention so far. This paper therefore reviews metrics proposed in the literature for quantifying orthographic transparency, syllabic complexity, and morphological complexity of alphabetic languages. The review included searches of Web of Science, PubMed, PsychInfo, Google Scholar, and var…

Management of chronic viral hepatitis in patients with thalassemia: recommendations from an international panel.

2010

AbstractChelation therapy with new drugs prevents cardiac damage and improves the survival of thalassemia patients. Liver diseases have emerged as a critical clinical issue. Chronic liver diseases play an important role in the prognosis of thalassemia patients because of the high frequency of viral infections and important role of the liver in regulating iron metabolism. Accurate assessment of liver iron overload is required to tailor iron chelation therapy. The diagnosis of hepatitis B virus– or hepatitis C virus–related chronic hepatitis is required to detect patients who have a high risk of developing liver complications and who may benefit by antiviral therapy. Moreover, clinical manage…

Persistence of disease flares is associated with an inadequate colchicine dose in familial Mediterranean fever: A national multicenter longitudinal s…

2021

Familial Mediterranean fever (FMF) is characterized by self limited episodes of fever and polyserositis.1 MEFV gene en codes for a protein named Pyrin, which plays a pivotal role in the activation and secretion of IL-1.2 Daily colchicine is highly effective in preventing attacks in this disorder in a dose-related fashion.3 Many definitions of colchicine resistance are available in the literature. The European League Against Rheumatism (EULAR) guidelines defined resistance as one or more attacks per month in compliant patients who had been receiving the maxi mally tolerated dose for at least 6 months.4 A similar definition was confirmed by a recent consensus among experts.5 In the present na…