H EREDITARY PERSISTENCE OF FETAL HEMOGLOBIN is a term tentatively applied to a specific inherited anomaly manifested throughout life by the presence of large amounts of fetal hemoglobin in the erythro-cytes in the absence of anemia or clinical manifestations. The abnormality is attributable to a single autosomal genetic factor. Since the primary effect of the mutant gene is unknown, designation...

A South Wales gypsy kindred of Romany origin had a high incidence of phenylketonuria along with other recessively inherited disorders. There was a high degree of consanguinity (F = 0-017) with an excess of non-specific mental subnormality among known consanguineous matings. Phenylketonuria and a number of other recessively inherited disorders have been recorded from other Romany gypsy populatio...

materials and methods a number of 100 patients with imr, normal karyotypes and negative fragile-x and metabolic tests were screened for subtelomeric abnormalities using mlpa technique. results nine of 100 patients showed subtelomeric abnormalities with at least one of the two mlpa kits. deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. ...

cellular and molecular pathways link thrombosis and innate immune system during sepsis. extrinsic pathway activation of protease thrombin through fviia and tissue factor (tf) in sepsis help activate its endothelial cell (ec) membrane protease activated receptor 1 (par-1). thrombin adjusts the ec cycle through activation of g proteins (g12/13), and later through rho gefs (guanine nucleotide exch...

background: methamphetamine (ma) is a potent psychomotor stimulant with high abuse and addictive potential. ma is a neurotoxic drug which is widely abused by females of childbearing age, raising serious public health concerns in terms of exposure of the fetus to the drug. neurotoxic effects of ma on adult are well known, such as dopaminergic nerve terminal degeneration and cell death in regions...

purpose : to evaluate the visual results of amblyopic therapy in pediatric patients with monocular abnormalities. methods : the hospital records of visually immature patients with unilateral organic ocular abnormalities and decreased visual acuity, who presented to the pediatric ophthalmology clinic over a one year period, were reviewed. those who had 8 years old of age or less and underwent am...

a study of the relationship between the disorder of glucose metabolism and ischemic heart disease was performed on 122 patients and 100 controls in loghman-dowleh adham’s medical center in tehran. the gtt abnormality was found in only 8% of the control group while for the patients with the heart ischemia the prevalence was 62.3%. prevalence of glucose metabolic disorder among men with acute myo...

objective: approximately 15-20% of clinically recognizable pregnancies end in spontaneous abortion. the incidence of chromosomal abnormalities in those abortions is as high as 50%.a modest but clinically important proportion of spontaneous abortions is caused by a balanced chromosomal aberration in one of the parents. this results from the production of gametes and embryos with unbalanced chrom...

Specific antibodies to human fetal hemoglobin were prepared and, after conjugation with a fluorescent dye, were used to determine the distribution of Hb F-containing cells in blood smears from normal adults and individuals with hereditary and acquired conditions associated with abnormal levels of Hb F. The mean proportion of F-cells in normal persons was 2.7% +/- 1.4%, with a range of 0.5%-7.0%...