there are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in infants. the authors report a neonate affected by familial hyperchylomicronemia, while being investigated for sepsis the serum sample obtained for blood counts was discovered to be lipaemic and the case was subsequently investigated for dyslipidemia. based on this very abnormal lipid profile...

Major histocompatibility complex (MHC) class II deficiency is a primary immunodeficiency disease characterized by abnormality of MHC class II molecules surface expression on peripheral blood lymphocytes and monocytes. Clinical manifestations include extreme susceptibility to viral, bacterial, and fungal infections but the immunodeficiency is not as severe as SCID (severe combined immunodeficien...

major histocompatibility complex (mhc) class ii deficiency is a primary immunodeficiency disease characterized by abnormality of mhc class ii molecules surface expression on peripheral blood lymphocytes and monocytes. clinical manifestations include extreme susceptibility to viral, bacterial, and fungal infections but the immunodeficiency is not as severe as scid (severe combined immunodeficien...

purpose: to evaluate color vision in patients with type ii diabetes mellitus without diabetic retinopathy and compare the results with those of age- and sex- matched normal individuals. methods: this descriptive, comparative study was conducted on 100 diabetic patients without any sign of retinopathy and 100 age- and sex-matched normal subjects. color vision was evaluated using ishihara and far...

metabolic myopathies are genetically inherited disorders of muscle energy production that result in skeletal muscle dysfunction. they are a large group of diseases with diverse inborn errors of metabolism, in particular muscle energy production, and including disorders of glycogen (lysosomal and non-lysosomal glycogenoses), lipid (disorders of fatty acid b-oxidation, primary carnitine deficienc...

The authors investigated 32 patients with the muscle form of CPT II deficiency. Total carnitine palmitoyltransferase enzyme system (CPT) activity was normal but abnormally inhibited by malonyl-CoA, palmitoyl-CoA, and the detergents Triton X and Tween 20. Mutation analysis identified three described mutations (S113L, P50H, and F448L) and two novel mutations (M214T and Y479F). Using modeling tech...

Background Iron deficiency is one of the most prevalent anemia. 2 million people in the world suffer from it. All young girls are at higher risk for iron defiency anemia, therefore,diagnosis and prevention of this anemia in the young age is very important. Materials and Methods: A total of 1500 high school girls educated in five regions of education of Mashhad (ages 14-18 years) were studi...

Carbonic anhydrase II (CA II) deficiency is an extremely rare autosomal recessive disorder, characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A 12 year old boy with classical features of CA II deficiency is reported who was found to be homozygous for the mutation in CA II gene and parents were heterozygous for the same mutation .To the best of our kn...