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The extent to which low-frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF ≤ 1%) variants contribute to complex traits and disease in the general population is mainly unknown. Bone mineral density (BMD) is highly heritable, a major predictor of osteoporotic fractures, and has been previously associated with common genetic variants, as well as rare, population-specific, coding vari
The first Scandinavian protocol for Ewing's sarcoma, SSG IV, resulted in a local control rate of 74% and 5-year metastasis-free survival (MFS) of 43%. The second protocol, SSG IX, was started in order to improve upon these results. It featured four chemotherapy cycles, each consisting of two courses of VAI (vincristine, doxorubicin, ifosfamide) alternating with one course of PAI (cisplatin, doxoru
OBJECTIVE: Imaging follow-up (FU) after endovascular aneurysm repair (EVAR) is usually performed by periodic contrast-enhanced computed tomography (CT) scans. This study aims to evaluate the effectiveness of CT-FU after EVAR. METHODS: In this study, 279 of 304 consecutive patients (261 male, aged 74 years (interquartile range (IQR): 70-79 years) with a median abdominal aortic aneurysm (AAA) diamet
Background Carrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes, and some variants of the melanocortin-1 receptor gene (MC1R), which is known to have a role in the pigmentation process. However, investigation of the associations of both
The infrastructure for the third generation of mobile telephony, UMTS, is under construction in Sweden. Within three years four operators were to build competing systems to cover 99,98 % of the population. The case of the 3G infrastructure illustrates how the sustainability issues are handled in planning and environmental management, with conflicting goals between institutional levels and compet
CYP17 encodes cytochrome p450c17 alpha, which mediates activities essential for the production of sex steroids. Common germ line variation in the CYP17 gene has been related to inconsistent results in breast and prostate cancer, with most studies focusing on the nonsynonymous single nucleotide polymorphism (SNP) T27C (rs743572). We comprehensively characterized variation in CYP17 by direct sequenc
CONTEXT: Tuberculosis (TB) is an increasing global problem, despite effective drug therapies. Access to TB therapy during conflict situations has not been studied. OBJECTIVE: To determine the effect of irregular TB treatment due to an armed conflict in Guinea-Bissau, West Africa. DESIGN, SETTING, AND PATIENTS: Ongoing retrospective cohort study conducted in the capital city of Bissau among 101 pat
Purpose: In one form of human autosomal recessive retinitis pigmentosa and in retinal degeneration (rd1) mouse, mutation occurs in the genes encoding ß subunit of rod photoreceptor cGMP phosphodiesterase. Therefore, rd1 mutant mouse is an appropriate model for human inherited retinal degeneration studies. Retinal explants are successfully cultured in serum free chemically defined R16 medium to eva
Background: Different foods can modulate cardiometabolic risk factors in persons already affected by metabolic alterations. The objective of this study was to assess, in healthy overweight individuals, the impact of a diet combining multiple functional concepts on risk markers associated with cardiometabolic diseases (CMD). Methods: Fourty-four healthy women and men (50-73 y.o, BMI 25-33, fasting
Background The purpose of these studies was to compare efficacy and toxicity of docetaxel alone with the combination of gemcitabine and docetaxel for treatment of metastatic esophageal carcinoma. Patients and methods These studies enrolled patients with histopathologically verified squamous cell carcinoma or adenocarcinoma of the esophagus or cardia. Between March 1997 and June 1999, 52 patients w
INTRODUCTION: Osteoporosis of the axial skeleton is a known complication of ankylosing spondylitis (AS), but bone loss affecting the peripheral skeleton is less studied. This study on volumetric bone mineral density (vBMD) and bone microarchitecture in AS was conducted to compare peripheral vBMD in AS patients with that in healthy controls, to study vBMD in axial compared with peripheral bone, and
BACKGROUND:The need for instruments that can assist in detecting the prodromal stages of stress-related exhaustion has been acknowledged. The aim of the present study was to evaluate whether the Lund University Checklist for Incipient Exhaustion (LUCIE) could accurately and prospectively detect the onset of incipient exhaustion and to what extent work stressor exposure and private burdens were ass
The method presented in this paper is invented to address the problem of episodic memory in participants with highly restricted verbal abilities, 15-month-olds in this case. Here, we refer to episodic memory defined as a mind/brain system with three main responsibilities: to encode, to store and to recall individual memories. Episodic memory system requires three additional capacities, which make
The present study investigates spatial properties of atrial fibrillation (AF) by analyzing VCG loops synthesized from 12-lead ECGs. During intervals with ventricular activity, the atrial signal is extracted using spatiotemporal QRST cancellation, thus making continuous f-wave analysis possible. Spatial properties are characterized through joint analysis of successive fixed-length signal segments,
PURPOSE: To evaluate the effect of intraocular pressure (IOP)-reducing treatment on the development of disc hemorrhages in patients with glaucoma. DESIGN: Prospective cohort study of patients in the Early Manifest Glaucoma Trial, followed up to 11 years (median = 8 years). PARTICIPANTS: Patients with newly detected glaucoma randomized to argon laser trabeculoplasty plus betaxolol (n = 129) or no i
Purpose: alpha-Melanocyte stimulating hormone (alpha-MSH; Fluka Chemie AG, Geneva, Switzerland) and oxytocin induce erection in rats after intracerebroventricular administration. We studied possible interactions of alpha-melanocyte stimulating hormone with mechanisms pertaining to oxytocin or nitric oxide. Materials and Methods: We used 78 anesthetized male Sprague-Dawley rats. Catheters were impl
