Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.

Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA.

Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study.

Spontaneous epidural and subdural hematoma in a child with afibrinogenemia and postoperative management.

Congenital afibrinogenemia is a rare coagulation disorder that exhibits recessive inheritance. The prevalence of this disease is around 1 per 1 000 000, but it is increased in countries where consanguineous marriages are common. Umbilical cord bleeding during the neonatal period is generally the first manifestation of the disease, but a later age of onset is not uncommon.

Analysis of fatal cases of pandemic influenza A (H1N1) virus infections in pediatric patients with leukemia.

Background: Pandemic influenza A/H1N1/2009 virus usually causes mild illness in healthy children. Chronic medical conditions are recognized as increasing the risk for complications of influenza virus infection. Although most studies including children with acute leukemia and H1N1 virus have reported no deaths, some anectodal reports with low patient numbers have reported mortality rates as high as 28.

Vitamin B12 and folate statuses are associated with diet in pregnant women, but not with anthropometric measurements in term newborns.

Objective: To investigate the frequencies of vitamin B12 and folate deficiencies in pregnant women in low socioeconomic group, the relation between the animal-source foods consumption and maternal vitamin B12-folate statuses, and their impacts on anthropometric measurements of the infants.

Methods: A total of 208 pregnant women in the last trimester were included in the study. A questionnaire about socio-demographic status, consumption of meat, egg, milk-dairy products, multivitamin supplementation was used.

Vitamin D deficiency in pregnant women and their neonates in spring time in western Turkey.

Although Turkey is located in a sunny region, vitamin D deficiency is still a serious health problem in pregnant women and their infants, especially among the low socio-economic status Turkish population. This study was carried out in order to measure serum 25-hydroxyvitamin D3 [25(OH)D] concentrations of the pregnant women in the last trimester and in their neonates at delivery and to determine the factors associated with maternal serum 25(OH)D concentrations. Among the patients visiting the Ege Obstetrics and Gynecology Hospital in the period March to May 2008, 258 healthy pregnant women ≥37 weeks of gestation were included in this study.