Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage

Journal of Neurology - Genetic risk factors for unruptured intracranial aneurysms (UIA) and aneurysmal subarachnoid hemorrhage (aSAH) are poorly understood. We aimed to verify recently reported...     

Holmium-166 Radioembolization in Hepatocellular Carcinoma: Feasibility and Safety of a New Treatment Option in Clinical Practice

CardioVascular and Interventional Radiology - To investigate clinical feasibility, technical success and toxicity of 166Ho-radioembolization (166Ho-RE) as new approach for treatment of...     

Regulation of human endogenous retrovirus W protein expression by herpes simplex virus type 1: Implications for multiple sclerosis

The multiple sclerosis-associated retrovirus (MSRV), originally identified in cell cultures from patients with multiple sclerosis (MS), is closely related to the human endogenous retrovirus family W (HERV-W). Recently, HERV-W gag and env protein expression was demonstrated in MS lesions in situ. Here, the authors show that HERV-W gag and env proteins are induced by herpes simplex virus type 1 (HSV-1) in neuronal and brain endothelial cells in vitro. The transactivation of HERV-W proteins by HSV-1 could enhance their potential oligodendrotoxic and immunopathogenic effects, representing a mechanism by which HSV-1, and possibly also other herpesviruses associated with MS, may be linked to the pathogenesis of this disease.     

International registry on factor XIII deficiency: a basis formed mostly on European data

FXIII deficiency is known as one of the rarest blood coagulation disorders. In this study, the phenotypic and in part genotypic data of 104 FXIII-deficient patients recorded from 1993 - 2005 are presented. The most common bleeding symptoms were subcutaneous bleeding (57%) followed by delayed umbilical cord bleeding (56%), muscle hematoma (49%), hemorrhage after surgery (40%), hemarthrosis (36%), and intracerebral bleeding (34%). Prophylactic treatment was initiated in about 70% of all patients. FXIII-B subunit-deficient patients had a milder phenotype than patients with FXIII-A subunit deficiency. The most frequent mutation affecting the F13A gene was a splice site mutation in intron 5 (IVS5-1G>A). This mutation was found in eight (17%) of 46 analyzed families. The haplotype analysis of patients carrying the IVS5-1A allele was consistent with a founder effect. The international registry (http://www.f13-database.de) will provide clinicians and scientists working on FXIII deficiency with a helpful tool to improve patient care and direct future studies towards better understanding and treatment of the disease.     

Ghrelin enhances the nocturnal secretion of cortisol and growth hormone in young females without influencing sleep

Ghrelin was shown to increase slow wave sleep (SWS) and the secretion of growth hormone (GH) and cortisol in young males. In terms of sleep, such information for females, however, is lacking. Therefore, polysomnographies were recorded (23:00-07:00 h) and nocturnal (20:00-07:00 h) secretion profiles of GH and cortisol were determined in 10 healthy females (24.9+/-2.4 years, body mass index: 21.2+/-1.1) twice, receiving four boluses of 50 microg ghrelin or placebo at 22:00, 23:00, 00:00, and 01:00 h, in this single-blind, randomized, cross-over study. No significant differences of conventionally or quantitatively analyzed sleep were observed between ghrelin and placebo condition. First administration of ghrelin caused a marked mean increase of GH by 53.3 to 64.4+/-14.2 ng/ml (placebo: 5.9+/-1.5 ng/ml) and cortisol by 54.2 to 96.4+/-15.3 ng/ml (placebo: 27.5+/-4.7 ng/ml). The following ghrelin injections were associated with smaller increases of GH and cortisol. In the ghrelin condition, GH plasma levels remained significantly (P<0.05) higher from 22:20 to 02:00 h and cortisol plasma levels from 22:20 to 02:20 h. In contrast to findings in young men, ghrelin did not affect sleep in young women, indicating a sexual dimorphism. In accordance with the findings in young men, ghrelin stimulated secretion of GH and cortisol.     

Maternal Dietary Selenium Intake during Pregnancy Is Associated with Higher Birth Weight and Lower Risk of Small for Gestational Age Births in the Norwegian Mother,Father and Child Cohort Study

Selenium is an essential trace element involved in the body’s redox reactions. Low selenium intake during pregnancy has been associated with low birth weight and an increased risk of children being born small for gestational age (SGA). Based on data from the Norwegian Mother, Father and Child Cohort Study (MoBa) and the Medical Birth Registry of Norway (MBRN), we studied the association of maternal selenium intake from diet and supplements during the first half of pregnancy (n = 71,728 women) and selenium status in mid-pregnancy (n = 2628 women) with birth weight and SGA status, according to population-based, ultrasound-based and customized growth standards. An increase of one standard deviation of maternal dietary selenium intake was associated with increased birth weight z-scores (ß = 0.027, 95% CI: 0.007, 0.041) and lower SGA risk (OR = 0.91, 95% CI 0.86, 0.97) after adjusting for confounders. Maternal organic and inorganic selenium intake from supplements as well as whole blood selenium concentration were not associated with birth weight or SGA. Our results suggest that a maternal diet rich in selenium during pregnancy may be beneficial for foetal growth. However, the effect estimates were small and further studies are needed to elucidate the potential impact of selenium on foetal growth.