FAMILIAL PANMYELOPHTHISIS

Familial panmyelophthisis; Fanconi syndrome in adults.

Case i. Sch., Franz, was born in 192.1. As a boy he was nicknamed “the negro” because of marked pigmentation. He was healthy apart from bouts of eczema. In 1939, at the age of i8 he had poliomyelitis with resulting weakness of the abdominal muscles. Anemia was discovered for the first time during this illness, with hemoglobin levels varying betwen 6o and 8o per cent. In April 1945, the hemoglob...

Panmyelophthisis with Hemorrhagic Manifestations in Rats on a Nutritional Basis

During the 12 months ending May, 1937, 72 rats were observed that manifested typical symptoms of panmyelophthisis. The disease may start as agranulocytosis, thrombocytopenia or pure red cell anemia, leading progressively, often rapidly, to aleukia hemorrhagica with its typical manifestations (epistaxis, melena, hematuria, purpura). Blood examinations revealed correspondingly low white cell, red...

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 ...