Search results

Epidermolysis bullosa simplex (EBS) is usually inherited as an autosomal dominant disease due to monoallelic gain-of-function mutations in KRT5 or KRT14. Although autosomal recessive forms of EBS have been associated with mutations in at least 10 genes, recessive EBS due to homozygous biallelic KRT5 mutations has not been reported previously; it has been hypothesized that it would result in prenat

To date, few studies have investigated the simultaneous effects of macro-scale parameters (MSPs) such as land use, population density, geology, and erosion layers on micro-scale water quality variables (MSWQVs). This research focused on an evaluation of the relationship between MSPs and MSWQVs in the Siminehrood River Basin, Iran. In addition, we investigated the importance of water particle trave

Purpose: Usher syndrome is the most common cause of deafness associated with visual loss of a genetic origin. The purpose of this paper is to report very severe phenotypic features of type 1B Usher syndrome in a Saudi family affected by positive homozygous splice site mutation in MYO7A gene. Methods: Affected siblings went through detailed history. Complete ophthalmic examination was done. Imaging

Objectives The aims of this study were to update the evidence on the incidence and prevalence rates of vaccine preventable infections (VPI) in patients with autoimmune inflammatory rheumatic diseases (AIIRD) and compare the data to the general population when available. Methods A literature search was performed using Medline, Embase and Cochrane library (October 2009 to August 2018). The primary o

Objective: To evaluate the additive value of the prostate cancer gene 3 (PCA3) urine test to serum prostate-specific antigen (PSA) in prostate cancer (PC) screening among breast cancer, early-onset gene (BRCA) mutation carriers. This study was performed among the Dutch participants of IMPACT, a large international study on the effectiveness of PSA screening among BRCA mutation carriers. Materials

Background: Migraine occurs 2–3 times more often in females than in males and is in many females associated with the onset of menstruation. The steroid hormone, 17β-estradiol (estrogen, E2), exerts its effects by binding and activating several estrogen receptors (ERs). Calcitonin gene-related peptide (CGRP) has a strong position in migraine pathophysiology, and interaction with CGRP has resulted i

Malignant hyperthermia is a potentially fatal condition, in which genetically predisposed individuals develop a hypermetabolic reaction to potent inhalation anaesthetics or succinylcholine. Because of the rarity of malignant hyperthermia and ethical limitations, there is no evidence from interventional trials to inform the optimal perioperative management of patients known or suspected with malign

Numerous sandstone-hosted Pb-Zn deposits occur along the present-day erosional front of the eastern Scandinavian Caledonides. The largest deposit is Laisvall (64.3 Mt at 4.0% Pb, 0.6% Zn and 9.0 g/t Ag) and since mineralisations generally share similar characteristics (reminding of both SEDEX and MVT-style) the term Laisvall-type has often been used. Typically, mineralised zones occur along sedime

Classical plant uptake is limited to hydrophilic or water-dispersible material. Therefore, in order to test the uptake behaviour of hydrophobic particles, here, we tested the fate of hydrophobic particles (oleylamine coated Cu2-xSe NPs (CS@OA)) in comparison to hydrophilic particles (chitosan-coated Cu2-xSe NPs (CS@CH)) by treatment on the plant roots. Surprisingly, hydrophobic CS@OA NPs have been

Given the photocatalytic properties of semiconducting polymers and carbon quantum dots (CQDs), we report a new structure for a metal-free photocatalytic system with a promising efficiency for hydrogen production through the combination of an organic semiconducting polymer (PFTBTA) and N-doped carbon quantum dots (NCQDs) covered by PS-PEGCOOH to produce heterostructured photocatalysts in the form o

Laminar burning velocities of methane + formic acid + air flames were determined using the heat flux method at 1 atm and initial gas temperature of 353 K. For fuel mixtures containing 75 or 50% mole fraction of HCOOH, a range of equivalence ratios from 0.7 to 1.3 was covered. In stoichiometric mixtures burning velocities were measured varying fuel composition from pure methane to 85% of formic aci

Background and purpose: To reduce relapse risk, Total Body Irradiation (TBI) is part of conditioning regimens for hematopoietic stem cell transplantation (HSCT) in pediatric acute leukemia. The study purpose was to evaluate clinical practices regarding TBI, such as fractionation, organ shielding and delivery techniques, among SIOPE affiliated radiotherapy centers. Methods: An electronic survey was

The modeling of seasonally frozen soils is significant for understanding the hydrological process in cold regions. The water and heat transports of two seasonally frozen sites in northern China were simulated with the process-oriented CoupModel, and a more efficient Monte Carlo based method was employed to identify the uncertainties in multi-site calibration. Results showed that water and heat mea

Background: Plasma biomarkers may be useful to detect healthy individuals at increased risk for atherosclerotic manifestations, such as carotid artery stenosis. The aim of this longitudinal cohort study was to evaluate new biomarkers in relation to C-reactive protein and conventional risk factors for carotid artery stenosis during long term follow-up Methods: The following markers were measured in

Abstract: Annual cycle events may be interlinked, influence following annual cycle stages, and may alter performance of individuals. Such links, called carry-over effects, can explain individual variation in timing or reproductive success in migratory species. Identifying the key links affecting fitness may reveal the mechanisms of species population dynamics but the current evidence for the stron

Objective: In insulin-like growth factor II (IGF-II) producing non-islet cell tumor hypoglycemia (NICTH), high molecular weight forms of IGF-II (big IGF-II) are produced as a cause of spontaneous hypoglycemia. MicroRNA (miRNA)-483 family, encoded in an intron lesion of IGF2 gene, is suggested to be co-expressed with IGF-II. Here, we tested whether serum miR-483-5p and -3p levels are associated wit

Background: Both bullying victimization and perpetration were associated with depression, social phobia, physical and psychological child abuse and Internet addiction in Lebanon. The prevalence of bullying in Lebanon is alarming, with 50% of school-aged children and adolescents reporting being bullied at some point. The high rate of both bullying victimization can be reflective of the inefficacy o

This chapter focuses on Bornholm and compares it to Gotland, since these Baltic islands are home to the largest concentrations of Viking-Age silver hoards in Denmark and Sweden respectively. It considers recent approaches to the questions of why and how hoards were deposited and presents six case studies of partially excavated hoard sites on Bornholm. The reasons for their deposition may have vari