objective: leukocyte adhesion deficiency(lad) is a scarce, autosomal recessive inherited disorder . lad-i which is the most common type occurs due to mutations on the cd18 gene. this mutation leads to absence or severe reduction of leukocyte cell surface expression of ß2 integrin molecules which are necessary for the adhesion of the leukocytes to the endothelial cells, transendothelial migratio...

Abstract: Infantile Tremor Syndrome is a clinical state, characterized by anemia, skin depigmentation, tremors and developmental delay in children between age 5 months to 3 years. Nutritional deficiency one of the most accepted theories, usually seen among breastfeeding vegetarian mothers. The present case report describes demographic, clinical, laboratory profile treatment outcome infantile tr...

background: given the relationship of vitamin d deficiency with insulin resistance syndrome as the component of polycystic ovary syndrome (pcos), the main aim of this study was to compare serum level of 25- hydroxyvitamin d [25(oh)d] between pcos patients and normal individuals. materials and methods: a cross sectional study was conducted to compare 25(oh)d level between117 normal and 125 untre...

the charts of 27 patients with kawasaki disease (kd) admitted to nemazee hospital in shiraz from january 1991 to october 1998 were reviewed to identify the results of mean peroxidase index (mpxi) values, a measure of neutrophil staining intensity, obtained by the technicon hi analyzer (technicon instruments corp., tarrytown, ny) within the first 10 days of the illness 2 separate groups of patie...

This is a multicenter prospective cohort study to analyze the correlation of traditional Chinese medicine (TCM) syndrome evolvement and cardiovascular events in patients with stable coronary heart disease (CHD). The impact of syndrome evolvement on cardiovascular events during the 6-month and 12-month follow-up was analyzed using complex networks approach. Results of verification using Chi-squa...

a 7 year old boy with desanctis-cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.

background: metabolic syndrome (ms) is an important risk factor that is associated with vitamin d deficiency, according to recent studies. this study aimed to evaluate the relationship between serum 25-hydroxyvitamin d level and risk of metabolic syndrome in children in birjand. materials and methods: a case-control study on 6 to 18 years old metabolic syndrome patients, this investigation was ...

the term congenital hypopituitarism defines deficiency of all of the pituitary hormones. hypoglycemia and microphallus (in males) are common findings, and some infants have shown evidence of the neonatal hepatitis syndrome. we report a case of congenital panhypopituitarism with deficiency of six major hormones and association with severe hypoglycemia, impaired liver function tests and congenita...