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Genetic investigation of Nordic patients with complement-mediated kidney diseases

BackgroundComplement activation in atypical hemolytic uremic syndrome (aHUS), C3 glomerulonephropathy (C3G) and immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) may be associated with rare genetic variants. Here we describe gene variants in the Swedish and Norwegian populations.MethodsPatients with these diagnoses (N=141) were referred for genetic screening. Sanger or nex

Blood and hair manganese concentrations in pregnant women from the Infants' Environmental Health Study (ISA) in Costa Rica

Manganese (Mn), an essential nutrient, is a neurotoxicant at high concentrations. We measured Mn concentrations in repeated blood and hair samples collected from 449 pregnant women living near banana plantations with extensive aerial spraying of Mn-containing fungicide mancozeb in Costa Rica, and examined environmental and lifestyle factors associated with these biomarkers. Mean blood Mn and geome

The Immunopeptidome from a Genomic Perspective : Establishing the Noncanonical Landscape of MHC Class I–Associated Peptides

Tumor antigens can emerge through multiple mechanisms, including translation of noncoding genomic regions. This noncanonical category of tumor antigens has recently gained attention; however, our understanding of how they recur within and between cancer types is still in its infancy. Therefore, we developed a proteogenomic pipeline based on deep learning de novo mass spectrometry (MS) to enable th

Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes

BOADICEA is a comprehensive risk prediction model for breast and/or ovarian cancer (BC/OC) and for carrying pathogenic variants (PVs) in cancer susceptibility genes. In addition to BRCA1 and BRCA2, BOADICEA version 6 includes PALB2, CHEK2, ATM, BARD1, RAD51C and RAD51D. To validate its predictions for these genes, we conducted a retrospective study including 2033 individuals counselled at clinical

Arts and culture engagement and mortality : A population-based prospective cohort study

Aims: The aim of this study was to investigate associations between having visited the theatre/cinema and an arts exhibition during the past year and all-cause, cardiovascular disease (CVD), cancer and other-cause mortality. Methods: The 2008 public health postal survey in Scania, Sweden, was distributed to a stratified random sample of the adult population (18–80 years old). The participation rat

Long‐term follow‐up of laser trabeculoplasty in multi‐treated glaucoma patients

PurposeTo evaluate the long-term effect of laser trabeculoplasty (LTP) in patients randomized to multi-treatment in the Glaucoma Intensive Treatment Study (GITS).MethodsPatients with untreated newly diagnosed open-angle glaucoma were treated with three intraocular pressure (IOP)-lowering substances for 1 week and then 360° argon or selective LTP was performed. IOP was measured just before LTP and

Prognostic Significance of Arterial Lactate Levels at Weaning from Postcardiotomy Venoarterial Extracorporeal Membrane Oxygenation

BACKGROUND: The outcome after weaning from postcardiotomy venoarterial extracorporeal membrane oxygenation (VA-ECMO) is poor. In this study, we investigated the prognostic impact of arterial lactate levels at the time of weaning from postcardiotomy VA.METHODS: This analysis included 338 patients from the multicenter PC-ECMO registry with available data on arterial lactate levels at weaning from VA

Overall and Disease-Specific Mortality in Patients With Cushing Disease: A Swedish Nationwide Study

Context: Whether patients with Cushing disease (CD) in remission have increased mortality is still debatable.Objective: To study overall and disease-specific mortality and predictive factors in an unselected nationwide cohort of patients with CD.Design, patients, and methods: A retrospective study of patients diagnosed with CD, identified in the Swedish National Patient Registry between 1987 and 2

Parasitological Assessment of Sewage Sludge Samples for Potential Agricultural Reuse in Tunisia

Wastewater sludge represents an important resource for reuse in agriculture. However, potentially harmful pathogens are a main threat in this context. Thus, the aim of this study was to examine the presence of helminth ova and protozoan cysts in dried sewage sludge samples collected from ten wastewater treatment plants (WWTPs) located in eight governorates in Tunisia. Based on morphological criter

Predictors of Mortality and Cardiovascular Outcome at 6 Months after Hospitalization for COVID-19

Clinical outcome data of patients discharged after Coronavirus disease 2019 (COVID-19) are limited and no study has evaluated predictors of cardiovascular prognosis in this setting. Our aim was to assess short-term mortality and cardiovascular outcome after hospitalization for COVID-19. A prospective cohort of 296 consecutive patients discharged after COVID-19 from two Italian institutions during

Synthesis, characterization, and challenges faced during the preparation of zirconium pillared clays

In this study, Zr-pillared montmorillonite clays (Zr-PILCs) were synthesized using two different precursor materials: raw montmorillonite (CM) and sodium ion-saturated montmorillonite (Na-CM) at different Zr/clay ratios (2.5, 5 and 10 mmol/g). To study the effect of Zr concentration and clay pre-treatment with NaCl on pillaring, the modified clay samples were characterized in detail using X-ray di

Using Metrics of a Mixture Effect and Nutrition from an Observational Study for Consideration towards Causal Inference

Environmental exposures to a myriad of chemicals are associated with adverse health effects in humans, while good nutrition is associated with improved health. Single chemical in vivo and in vitro studies demonstrate causal links between the chemicals and outcomes, but such studies do not represent human exposure to environmental mixtures. One way of summarizing the effect of the joint action of c

The Neuroinflammatory Acute Phase Response in Parkinsonian-Related Disorders

Background: Neuroinflammation is implicated in the pathophysiology of Parkinson's disease (PD) and related conditions, yet prior clinical biomarker data report mixed findings. Objectives: The aim was to measure a panel of neuroinflammatory acute phase response (APR) proteins in the cerebrospinal fluid (CSF) of participants with PD and related disorders. Methods: Eleven APR proteins were measured i

Cognitive impairment in preeclampsia complicated by eclampsia and pulmonary edema after delivery

Introduction: We aimed to assess cognitive function in women with preeclampsia stratified by severity, before and after onset of disease. Material and methods: Prospective study performed at a referral hospital in Cape Town, South Africa. Pregnant women between 20 and 42 weeks of gestation with eclampsia, pulmonary edema and preeclampsia without severe features, and a normotensive pregnancy were a

Non-Invasive Characterization of Atrio-Ventricular Properties during Atrial Fibrillation

The atrio-ventricular (AV) node is the primary regulator of ventricular rhythm during atrial fibrillation (AF). Hence, ECG based characterization of AV node properties can be an important tool for monitoring and predicting the effect of rate control drugs. In this work we present a network model of the AV node, and an associated workflow for robust estimation of the model parameters from ECG. The

New insights into the phylogeny of Carasobarbus Karaman, 1971 (Actinopterygii, Cyprinidae) with the description of three new species

Fishes from the genus Carasobarbus, widely distributed throughout the river systems of North Africa and West Asia, are commonly referred to as Himris. In the Persian Gulf basin, they are widespread and are also found in fast-flowing rivers or the deeper regions of lakes. In this region, representation of these fishes in scientific collections is scarce, and except for C. luteus, the other species

Genital Malformations in Children With VACTERL – Has Time Come to Include “G” in the Acronym?

Background: Genital malformations are frequently diagnosed in patients with VACTERL, but are currently not included in the acronym. This study aimed to analyze the frequency of genital anomalies in patients with esophageal atresia (EA) and/or anorectal malformation (ARM), with a subgroup analysis of children fulfilling the VACTERL criteria. Method: This was a cross-sectional retrospective analysis

A robust Multi-Band Water Index (MBWI) for automated extraction of surface water from Landsat 8 OLI imagery

Surface water is vital resources for terrestrial life, while the rapid development of urbanization results in diverse changes in sizes, amounts, and quality of surface water. To accurately extract surface water from remote sensing imagery is very important for water environment conservations and water resource management. In this study, a new Multi-Band Water Index (MBWI) for Landsat 8 Operational

Coronary artery perforation and tamponade : Incidence, risk factors, predictors and outcomes from 12 years' data of the SCAAR registry

Background: The incidence and short- and long-term outcomes of coronary artery perforation (CAP) are not well described. Methods and Results: We analyzed the characteristics and the short- and long-term outcomes of CAP among 243,149 patients undergoing percutaneous coronary interventions (PCI) from 2005 until 2017 in the national Swedish registry. We identified 1,008 cases of CAP with an incidence