Serap Semiz

Are C-reactive protein and homocysteine cardiovascular risk factors in obese children and adolescents?

Background: Several prospective epidemiological studies have demonstrated that high‐sensitivity C‐reactive protein (hsCRP) and plasma homocysteine (hcy) are predictors of future coronary events among healthy men and women. The aim of the present study was therefore to investigate a possible relationship between hsCRP, hcy levels and body mass index (BMI), relative weight (RW), serum leptin levels, and cardiovascular risk factors in obese children and adolescents.

Gonadal dysfunction and pelvic sonographic findings in females with thalassaemia major

Objective. To investigate pubertal and menstrual problems and evaluate pelvic sonographic findings in patients with β-thalassaemia major. Material and Methods. Twenty-five female patients followed for thalassaemia major constituted the study population. Sexual maturation and hormonal status were assessed. Pubertal and menstrual problems were investigated. Results. There was one patient with delayed puberty and five patients with arrested puberty. Mean ferritin level in this group of patients was slightly but not significantly higher than patients with normal pubertal maturation (2620 ± 994 ng/ml vs. 2409 ± 1348 ng/ml, p > 0.05). There were 10 patients with primary amenorrhoea, three with secondary amenorrhoea, five with oligomenorrhoea and irregular menstruation and one with regular menstruation. Compared to menstruating patients, the mean uterine size was smaller (4.1 ± 3.5 cm3 vs. 52.8 ± 14.5 cm3) in all patients with delayed and arrested puberty (p < 0.05). Ten patients were taking hormone replacement therapy (HRT). The mean uterine size in these patients was larger than that in patients with amenorrhoea who were not taking HRT, but smaller than that in menstruating patients (9.1 ± 15.9 cm3, 2.7 ± 1.3 cm3 and 52.8 ± 14.5 cm3, respectively) (p < 0.05). Conclusion. Thalassaemia major has important side effects on the hypothaloma-pituitary-gonadal axis resulting in pubertal and menstrual abnormalities. HRT should be given to provide normal sexual maturation in these patients.

Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome.

Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject. Thrombus identified in the right atrium using echocardiography was treated by emergency thrombectomy. Homozygous mutation in the methylenetetrahydrofolate reductase gene C677T, heterozygous factor-V Leiden mutation, and active protein C resistance were identified in the patient. The patient was lost because of a recurring episode of pulmonary embolism on the 86th day of hospitalization. We present this case to highlight the need for investigating hereditary thrombosis risk factors in diabetic patients in whom thromboembolism develops.