Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

Case report: POEMS syndrome in childhood

POEMS syndrome is a rare multisystem disorder, which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. We report a 15-year-old girl with POEMS syndrome, who developed growth retardation, delayed puberty, gradually increasing abdominal distention, brown skin pigmentation, hypogonadism, hepatosplenomegaly, lympadenomegaly, monoclonal gammopathy, and anemia. The patient dramatically responded to pulse steroid therapy. To our knowledge, this patient is one of the youngest reported cases of POEMS syndrome

An Unusual Cause of Fulminant Guillain-Barre Syndrome: Angel's Trumpet

A 5-year-old previously healthy boy presented with typical findings of Guillain-Barre syndrome and unilateral tonic pupil. He was placed on mechanical ventilation for 35 days for respiratory failure. Plasmapheresis and two courses of intravenous immunoglobulin therapy were given to the patient, and he experienced stepwise recovery from his illness. This case of acute motor axonal neuropathy type Guillain-Barre syndrome is novel in that the cause was established as ingestion of a toxic solanaceous plant, angel's trumpet (Brugmansia suaveolens; syn. Datura suaveolens). Understanding the signs and symptoms of angel's trumpet toxicity can allow for early diagnosis and proper case management. (C) 2010 by Elsevier Inc. All rights reserved

Neonatal outcomes of preterm infants born to preeclamptic mothers

Objectives: Preeclampsia is a major cause of maternal, fetal and neonatal morbidity and mortality. The aim of this study was to determine neonatal outcomes of premature infants born to preeclamptic mothers

Malondialdehyde Level in the Cord Blood of Newborn Infants

Objective: In this study, we aim to demonstrate that measurement of the malondialdehyde (MDA) level in the umbilical cord blood of newborn infants born via cesarean section (C/S) and normal vaginal delivery (NVD) is indicative of oxidative stress during the perinatal period. Methods: The study was conducted at Bakirkoy Training and Research Hospital between January 2006 and April 2006 on 15 newborns born via elective C/S, 15 newborns born via emergency C/S, and 15 newborns born via normal vaginal delivery. Complete blood count, total bilirubin, glucose, creatinine phosphokinase (CPK), uric acid, iron, blood gas, and malondialdehyde levels were measured in the umbilical cord blood Findings: Malondialdehyde levels in the umbilical cord blood in the emergency C/S and NVD groups were found to be statistically and significantly higher than those in the elective C/S group. In the emergency C/S group, it was determined that the malondialdehyde level increased as the oxygen saturation of the umbilical cord blood increased. In the NVD group, a positive correlation was detected between the total bilirubin and malondialdehyde levels in the umbilical cord blood. In the emergency C/S group, the malondialdehyde level was recorded to be high in the infants with high level of uric acid in the umbilical cord blood. Conclusion: We concluded that the malondialdehyde level in umbilical cord blood could serve as an indication of perinatal oxidative stress and that it could thus help in preventing permanent damage

Malondialdehyde Level in the Cord Blood of Newborn Infants

Objective: In this study, we aim to demonstrate that measurement of the malondialdehyde (MDA) level in the umbilical cord blood of newborn infants born via cesarean section (C/S) and normal vaginal delivery (NVD) is indicative of oxidative stress during the perinatal period