Nonketotic Hyperosmolar Coma Associated With Splenic Rupture in Congenital Afibrinogenemia.

Nonketotic hyperosmolar coma is uncommon in children. Splenic rupture in congenital afibrinogenemia is also a rare event. The authors described a 5-year-old girl with congenital afibrinogenemia who presented with nonketotic hyperosmolar coma associated with spontaneous splenic rupture. Management consisted of correction of the nonketotic hyperosmolar condition and increasing fibrinogen concentration by blood products, followed by splenectomy, resulting in the survival of the patient.

Report of a Family with Fanconi Anemia and Ataxia-Telangiectasia.

We diagnosed two boys with two different chromosomal instability disorders such as Fanconi anemia (FA) and ataxia-telangiectasia (AT) in the same family. The phenotype of the first sibling supports the diagnosis of ataxia-telangiectasia. He had ataxia, telangiectasias on bulbar conjunctivas, a high level of alpha-fetoprotein, low levels of IgA and IgE, and a defective cell-mediated immunity. Cytogenetic studies of the peripheral lymphocytes revealed a chromosomal sensitivity to ionizing radiation. His 8-years-old brother had pancytopenia but had no ataxia and telangiectasia. He had a normal level of immunoglobulins and alpha-fetoprotein. His cell-mediated immunity was also normal. Cytogenetic studies showed no evidence spontaneus chromosome aberrations; however, there was a mild increase in the rate of diepoxybutane (DEB) and also an increased chromosome aberrations in the mitomycin C (MMC) treated samples than the control. The parent of the boys and 5th child were healty. The first child had normal hematological and immunological features, but he had a mild increase in the rate of DEB. The 4th child had an increased rate of DEB-induced chromosome aberrations. To our knowledge, this is the first family with FA and AT in Turkey and it is reported because of its rarity.

Protein oxidation in obesity and insulin resistance.

INTRODUCTION: Advanced oxidation protein products (AOPP) are considered reliable markers to estimate the degree of oxidant-mediated protein damage. Data on oxidative stress in childhood obesity and insulin resistance are limited. OBJECTIVE: The aim of this study was to investigate the AOPP level as an oxidative stress marker in obesity and insulin resistance. The study included 57 pubertal obese children and adolescents (30 girls and 27 boys) and 20 healthy pubertal children and adolescents (11 girls and 9 boys). MATERIALS AND METHODS: All participants in the obesity group underwent an oral glucose tolerance test (OGTT) and two separate groups were formed according to the existence of insulin resistance. RESULTS: AOPP levels were measured in the obesity and control groups spectrophotometrically. The obesity group consisted of 25 children and adolescents with insulin resistance and 32 subjects without insulin resistance. AOPP levels in the obesity group were found to be significantly higher than those in the control group. Although AOPP levels in the subjects with insulin resistance were higher than the subjects without insulin resistance, there was no significant difference between AOPP levels of subgroups with insulin resistance and without insulin resistance. CONCLUSION: This study showed protein oxidation in obesity with a novel oxidative stress marker and it also suggests that insulin resistance may play an important role as a source of oxidative stress in the development of other diseases after pubertal years.

Nonketotic hyperosmolar coma associated with splenic rupture in congenital afibrinogenemia.

Nonketotic hyperosmolar coma is uncommon in children. Splenic rupture in congenital afibrinogenemia is also a rare event. The authors described a 5-year-old girl with congenital afibrinogenemia who presented with nonketotic hyperosmolar coma associated with spontaneous splenic rupture. Management consisted of correction of the nonketotic hyperosmolar condition and increasing fibrinogen concentration by blood products, followed by splenectomy, resulting in the survival of the patient.