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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
Variations in molybdenum isotopic composition, spanning the range of similar to 2.3 parts per thousand in the terms of Mo-97/Mo-95 ratio, have been measured in sediment cores from three lakes in northern Sweden and north-western Russia. These variations have been produced by both isotopically variable input of Mo into the lakes due to Mo isotopic heterogeneity of bedrock in the drainage basins and
ABSTRACT Background: A Quick Test of Cognitive Speed (AQT) is a brief test that can identify cognitive impairment. AQT has been validated in Arabic, English, Greek, Japanese, Norwegian, Spanish, and Swedish. The aim of this study was to develop Italian criterion-referenced norms for AQT. Methods: AQT consists of three test plates where the patient shall rapidly name (1) the color of 40 blue, red,
In this study, we investigate for the first time the efficiency of an environmentally sustainable extraction technique (pressurized liquid extraction, PIE) in conjunction with a fast separation technique (ultra-high performance liquid chromatography, UHPLC) coupled to a selective mass spectrometry (MS) detector (quadrupole time-of-flight, qTOF) to extract, separate and quantify fifteen intact-gluc
Air samples were collected on glass fibre filters in 22 animal houses and 3 hay storage barns and examined for the presence of bacterial endotoxin with the Limulus (LAL) test and the gas chromatography - tandem mass spectrometry (GC-MSMS) technique, based on detection of 3-hydroxy fatty acids (3-OH-FAs) as chemical markers of the endotoxin lipopolysaccharide. The median concentrations of airborne
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
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
OBJECTIVES: To determine the ability to correctly identify Cesarean section scars, to estimate the prevalence of defective scars, and to determine the size and location of scar defects by transvaginal ultrasound imaging. METHODS: Two hundred and eighty-seven women underwent transvaginal ultrasound examination 6-9 months after delivery: 108 had undergone one Cesarean section, 43 had had two Cesarea
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
Popular Abstract in Swedish Vattentransporten i växter är viktig för en mängd olika processer. De flesta fritidsodlare vet att vattentillgången påverkar växternas utveckling i stor utsträckning. För att solros ska kunna gro, växa, vända sig mot solen och bilda nya frön, behöver vatten flöda på ett kontrollerat sätt genom olika celltyper i växten. Växter transporterar vatten på olika sätt. Över lånPlant water channels are members of the very old Major Intrinsic Protein (MIP) family, with representatives in bacteria, fungi, animals, and plants. The genome of the model plant Arabidopsis thaliana contains 35 MIP genes. Based on protein sequence comparisons, the MIP family has been divided in four subfamilies: the PIP (Plasma membrane Intrinsic Protein), the TIP (Tonoplast Intrinsic Protein), t
ABSTRACT Introduction. Testicular germ cell cancer (TGCC) patients may be at risk of developing sexual dysfunction after treatment. Aim. The aim of this study was to assess the prevalence of sexual dysfunctions in TGCC patients 3 to 5 years after treatment, and relate findings to biochemical hypogonadism, treatment intensity, and the expected prevalence in the Swedish male population. Methods. A q
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
