Hommage familial

Hommage to reactive psychosis.

When looking back in the history of psychiatry, the concept of reactivity had very variable impact on ethiological considerations. If classification of mental disorders is taken as a proxy, it seems that this impact is presently at the lowest that it has been in the last hundred years. The author gives a short historical overview of concept of reactive psychosis, followed by a description of th...

LE PLACEMENT FAMILIAL

Familial hypercholesterolemia: a case report

Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...

Molecular Diagnosis of Familial Hypercholesterolemia

Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...

Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping

Objective Globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. Researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of DPY19L2 or mutations in SPATA16 and PICK1 genes associated with globozoospermia. The aim of this study was to analyze the DPY19L2 gene deletion using polymerase chain reaction technique for th...