congenital myasthenic syndromes (cms) are a group of diseases caused by genetic defects affecting neuromuscular transmission and are heterogeneous in inheritance and pathophysiology. these are classified as: 1. presynaptic defects: including choline acetyl transferase deficiency, paucity of synaptic vesicles, lambert-eaton like cms 2. synaptic defect: endplate ach esterase deficiency 3. postsyn...

Folate (vitamin B9) is an essential nutrient required for cell survival, proliferation, differentiation and therefore embryogenesis. Folate deficiency has been associated with many diseases, including congenital heart diseases and megaloblastic anemia, yet the mechanisms underlying these remains elusive. Here, we examine the impact of folate deficiency on the development of the circulation syst...

Serum folic acid levels and the urinary excretion of Figlu have been studied in patients with leukaemia or lymphomas. The results indicate that folic acid deficiency is a common complication of these diseases. Bone marrow examinations of those with evidence of such a deficiency frequently show megaloblastic erythropoiesis. The Figlu test appears to be a useful screening test for folic acid defi...

Micronutrient deficiencies occur frequently in refugee and displaced populations. These deficiency diseases include, in addition to the most common Fe and vitamin A deficiencies, scurvy (vitamin C deficiency), pellagra (niacin and/or tryptophan deficiency) and beriberi (thiamin deficiency), which are not seen frequently in non-emergency-affected populations. The main causes of the outbreaks hav...

Reduced levels of wild-type mannose-binding lectin (MBL) may increase susceptibility for infection, other common diseases, and death. We investigated associations between MBL deficiency and risk of infection, other common diseases, and death during 24, 24, and 8 yr of follow-up, respectively. We genotyped 9,245 individuals from the adult Danish population for three MBL deficiency alleles, B, C,...

Background and aim: Iron deficiency anemia is the most common micronutrient deficiency in the world today. It affects the lives of millions of women and children through contributing to poor cognitive development, increased maternal mortality and decreased work capacity.  Because of the important role of Iron in the physical and cognitive health, and for the universal consideration of eradicati...

It is a well-known fact that as a result of vitamin-A deficiency people suffer from night blindness, and that when the deficiency becomes extreme keratomalacia develops. This deficiency in the system affects the general health and is associated with several other diseases, e.g. boils, etc., with which general practitioners deal every day. With a proper supply of vitamin A along with the diet, o...

Marked hyperalphalipoproteinemia (HAL) is a heterogeneous syndrome. To clarify the pathophysiological significance of HAL, we compared clinical profiles between marked HAL subjects with and without cholesteryl ester transfer protein (CETP) deficiency. CETP deficiency was associated with cardiovascular diseases and strokes in the HAL population, particularly in female. HAL women without CETP def...

congenital factor xiii deficiency is a very rare bleeding disorder, but because of the high rate of consanguineous marriages, it is common in sistan and baluchestan province of iran. the discovery of promoter hypermethylation of numerous mirnas in human diseases has demonstrated an epigenetic mechanism for aberrant mirna expression. the present study has analyzed methylation and expression stat...