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A High-Throughput Population Screening System for the Estimation of Genetic Risk for Type 1 Diabetes: An Application for the TEDDY (The Environmental Determinants of Diabetes in the Young) Study 460 DIABETES TECHNOLOGY & THERAPEUTICS Volume 9, Number 5, 2007 © Mary Ann Liebert, Inc. DOI: 10.1089/dia.2007.0229 A High-Throughput Population Screening System for the Estimation of Genetic Risk for Type

https://www.teddy.lu.se/sites/teddy.lu.se/files/06032016_679_04_kiviniemi_dtt_2007.pdf - 2026-05-22

Background: A unique form of hemophilia B (HB) is HB Leyden. We evaluated the international Pediatric Network on Hemophilia Management Registry (PedNet) database to explore the natural history of HB Leyden, investigate genotype-phenotype associations, and guide clinical decision-making. Objectives: To assess the association between genetic variants, endogenous factor (F)IX levels over time, treatm

Aquaglyceroporins are channels that facilitate the flux of glycerol and water across lipid bilayers. Although structural information is available for several aquaglyceroporins, the details of how water and glycerol selectivity are maintained and how protons are excluded remain elusive. An approach to obtaining data on the hydrogen atom positions is to apply neutron macromolecular crystallography.

Background & aims: Colorectal cancer (CRC), particularly rectal cancer, often requires neoadjuvant radiotherapy (RT) as part of its treatment plan. Although effective, RT can cause significant gastrointestinal side effects. Because the onset of RT-induced tissue injury can be anticipated, there is an opportunity to apply preventive measures before the damage occurs. This study aimed to assess

The metrology of attosecond pulse trains is based on a cross-correlation technique between a comb of extreme ultraviolet harmonics generated by the high-order harmonic generation process and a synchronised infrared field. The approach, usually referred to as reconstruction of attosecond beating by interference of two-photon transitions (RABBIT), allows one to recover the relative phase between the

BackgroundThe purpose was to evaluate the prognostic impact of aryl hydrocarbon receptor (AHR) genotypes in relation to lifestyle and adjuvant treatments in breast cancer.MethodsAHR genotyping was performed on genomic DNA from 1701 patients included 2002–2016 in Lund, Sweden, and followed for up to 15 years. Eight AHR polymorphisms and eight haplotypes were analysed using survival and interaction

Accumulating evidence suggests that microglia and peripheral immune cells may play determinant roles in the pathogenesis of Parkinson's disease (PD). Consequently, there is a need to take advantage of immune-related models of PD to study the potential contribution of microglia and peripheral immune cells to the degeneration of the nigrostriatal system and help develop potential therapies for PD. I

Background: With advances in clinical genetic testing, associations between genetic neurodevelopmental disorders and parkinsonism are increasingly recognized. In this review, we aimed to provide a comprehensive overview of reports on parkinsonism in genetic neurodevelopmental disorders and summarize findings related to genetic diagnosis, clinical features and proposed disease mechanisms. Methods:

Experimental near-edge x-ray-absorption fine-structure (NEXAFS) spectra of the nitrosonium NO+ ion are presented and theoretically analyzed. While neutral NO has an open shell, the cation is a closed-shell species, which for NEXAFS leads to the simplicity of a closed-shell spectrum. Compared to neutral NO, the electrons in the cation experience a stronger Coulomb potential, which introduces a shif

The widely used stainless steels and their deformed variants are anticorrosive in ambient conditions due to passivation layers composed of chromium oxides. Conventionally, corrosion and erosion of the steels are attributed to the breakdown of such layers but seldomly to the origin that depends on surface heterogeneity at the microscopic level. In this work, the nanometer-scaled chemical heterogene

BackgroundCarotid artery disease is highly prevalent and a main cause of ischemic stroke and vascular dementia. There is a paucity of information on predictors of serious vascular events. Besides percentage diameter stenosis, international guidelines also recommend the evaluation of qualitative characteristics of carotid artery disease as a guide to treatment, but with no agreement on which qualit

Pulmonary arterial hypertension (PAH) is a condition that leads to lethal right heart failure. Available treatments provide relief but are far from curative and the vascular remodeling in PAH has been difficult to decipher. Although pathognomonic to PAH, the plexiform lesions are difficult to define, and there is no consensus regarding their potential hemodynamic impact. Versican is an extracellul

Objective: To develop a simple and effective risk score for predicting which stroke patients will have persistent impairment of upper extremity motor function at 90 days. Design: Post hoc analysis of clinical trial patients hospitalized with acute ischemic stroke who were followed for 90 days to determine functional outcome. Setting: Patient were hospitalized at facilities across the United States

Introduction: Phenylketonuria (PKU) is a rare, treatable inborn error of metabolism with frequent neurological and neuropsychiatric complications, especially in undiagnosed or insufficiently treated individuals. Given the wide range of clinical presentations and the importance of treatment implications, we here delineate the neurological and neuropsychiatric symptom spectrum in a large cohort of p

INTRODUCTION: Temporal lobe epilepsy is the most common form of focal epilepsy, often associated with cognitive impairments, particularly in memory functions, and depression. Sex and APOE ε4 genotype play a crucial role in modulating cognitive outcomes and depression in various neurological conditions like Alzheimer's disease. However, the combined effects of APOE genotype and sex on cognitive per