8,110 results match your criteria: "Germany T.P.; and AOK Research Institute WIdO[Affiliation]"
Lancet Glob Health
September 2022
Division of Infectious Diseases and Geographic Medicine, Stanford University School of Medicine, Stanford, CA, USA.
J Clin Med
July 2022
Division of Pediatric Rheumatology and Autoinflammation Reference Center Tuebingen (arcT), Department of Pediatrics, University Hospital Tuebingen, 72076 Tuebingen, Germany.
Background: Variants in the phospholipase C gamma 2 (PLCG2) gene can cause PLCG2-associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) syndrome. Linking the clinical phenotype with the genotype is relevant in making the final diagnosis. Methods: This is a single center case series of five related patients (4−44 years), with a history of autoinflammation and immune dysregulation.
View Article and Find Full Text PDFInt J Mol Sci
July 2022
Bergmannsheil University Hospitals, Ruhr University of Bochum, 44789 Bochum, Germany.
Aims: Some gene variants in the sodium channels, as well as calcium channels, have been associated with Brugada syndrome (BrS). However, the investigation of the human cellular phenotype and the use of drugs for BrS in presence of variant in the calcium channel subunit is still lacking. Objectives: The objective of this study was to establish a cellular model of BrS in the presence of a CACNB2 variant of uncertain significance (c.
View Article and Find Full Text PDFInt J Environ Res Public Health
August 2022
German Center for Addiction Research in Childhood and Adolescence (DZSKJ), University Medical Center Hamburg-Eppendorf (UKE), Martinistraße 52, 20246 Hamburg, Germany.
: Problematic gaming (PG) has become an increasing mental health issue among adolescents during the preceding years. The role of parents and the family environment in the development of PG has been repeatedly emphasized. However, the structured involvement of parents in the therapy is still largely insufficient.
View Article and Find Full Text PDFInt J Radiat Biol
February 2023
Environmental Protection Agency, Washington DC, USA.
J Neurol
December 2022
Department of Neurology, Kepler University Hospital, Krankenhausstr. 9, 4020, Linz, Austria.
Objectives: The term hereditary spastic paraplegia comprises an ever-expanding array of neurological disorders with distinct aetiologies. Spastic paraplegia gene 39 is one of the many genetically defined types with features of other organs and neurological systems in addition to paraspasticity. We describe a large kindred with a novel clinical phenotype as, in addition to spastic paraplegia, affected subjects suffered from a prominent cerebellar oculomotor dysfunction with two hitherto undescribed mutations of PNPLA6.
View Article and Find Full Text PDFTuberculosis (Edinb)
September 2022
Molecular Biology and Biochemistry Laboratory, Department of Zoology, University of the Punjab, Lahore, Pakistan. Electronic address:
Single nucleotide polymorphisms (SNPs) in IRGM are reported to affect Mycobacterium tuberculosis (M.tb) degradation pathway. Here, we aim to screen promoter-region regulatory SNPs of IRGM in Pakistani population.
View Article and Find Full Text PDFStem Cell Res
October 2022
Division of Neuropediatrics and Metabolic Medicine, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
TUBB2A tubulinopathy is a rare neurodevelopmental disorder with developmental delay, epilepsy, and less frequent malformations of cortical development compared to other tubulinopathies. Peripheral blood mononuclear cells (PBMCs) from a male subject harboring the heterozygous de novo TUBB2A variant c.[743C>T] (p.
View Article and Find Full Text PDFInt J Radiat Biol
April 2023
ORISE Health Studies, Oak Ridge Associated Universities, Oak Ridge, TN, USA.
Purpose: This article summarizes a number of presentations from a session on "Radiation and Circulatory Effects" held during the Radiation Research Society Online 67 Annual Meeting, October 3-6 2021.
Materials And Methods: Different epidemiological cohorts were analyzed with various statistical means common in epidemiology. The cohorts included the one from the U.
ASAIO J
November 2022
From the Pediatric Advanced Cardiac Therapies Program, Pediatric Advanced Cardiac Therapies Program, Lucile Packard Children's Hospital, Palo Alto, California.
Hypertension
February 2023
Department of Community Medicine for Cardiology, Tokushima Graduate School of Biomedical Sciences, Japan (H.Y.).
Background: Accurate blood pressure (BP) measurement is critical for optimal cardiovascular risk management. Age-related trajectories for cuff-measured BP accelerate faster in women compared with men, but whether cuff BP represents the intraarterial (invasive) aortic BP is unknown. This study aimed to determine the sex differences between cuff BP, invasive aortic BP, and the difference between the 2 measurements.
View Article and Find Full Text PDFClin Genet
December 2022
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
TCF4 haploinsufficiency by deletions, truncating variants or loss-of-function missense variants within the DNA-binding and protein interacting bHLH domain causes Pitt-Hopkins syndrome (PTHS). This neurodevelopmental disorder (NDD) is characterized by severe intellectual disability (ID), epilepsy, hyperbreathing and a typical facial gestalt. Only few aberrations of the N-terminus of TCF4 were associated with milder or atypical phenotypes.
View Article and Find Full Text PDFNat Commun
July 2022
Univ. Grenoble Alpes, CNRS, CEA, Institut de Biologie Structurale, 71 Avenue des martyrs, F-38000, Grenoble, France.
Cry11Aa and Cry11Ba are the two most potent toxins produced by mosquitocidal Bacillus thuringiensis subsp. israelensis and jegathesan, respectively. The toxins naturally crystallize within the host; however, the crystals are too small for structure determination at synchrotron sources.
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
July 2022
Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Background: Valosin-containing protein (VCP) disease, caused by mutations in the gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in gene and investigates genotype-phenotype correlations.
View Article and Find Full Text PDFEuropace
December 2022
First Department of Medicine (Department of Cardiology, Angiology, Haemostaseology and Medical Intensive Care), Medical Faculty Mannheim, University Medical Centre Mannheim (UMM), University of Heidelberg, Theodor-Kutzer-Ufer 1-3, Mannheim 68167, Germany.
Aims: A loss-of-function mutation in L-type calcium (Ca2+) channel subunit gene CACNB2 has been reported to cause short QT syndrome subtype 5 (SQT5). However, the mechanism underlying the loss-of-function of the Ca2+ channel has not been clarified. In the present study, we aim to explore the DNA methylation mechanism of L-type Ca2+ channel downregulation in human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) of SQT5.
View Article and Find Full Text PDFNutrients
July 2022
Institute of Nutritional Medicine, University of Hohenheim, Fruwirthstrasse 12, 70599 Stuttgart, Germany.
Individuals with suspected non-celiac wheat sensitivity (NCWS) often report better tolerance of spelt ( ssp. ) compared to wheat ( ssp. ) bakery products.
View Article and Find Full Text PDFJ Cardiovasc Dev Dis
July 2022
Department of Cardiovascular Surgery, University Medical Center Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.
In spite of the noninferiority of transcatheter aortic valve replacement (TAVR) in high- and intermediate-risk patients, there are still obstacles that need to be overcome before the procedure is further expanded and clinically integrated. The lack of evidence on the long-term durability of the bioprostheses used for TAVR remains of particular concern. In addition, surgery may be preferred over TAVR in patients with bicuspid aortic valve (BAV) or with concomitant pathologies such as other valve diseases (mitral regurgitation/tricuspid regurgitation), aortopathy, and coronary artery disease.
View Article and Find Full Text PDFNeuropediatrics
October 2022
Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
loss-of-function variants represent a well-established cause of Bainbridge-Ropers syndrome, a syndromic neurodevelopmental disorder with intellectual and motor disabilities. Although a recent large-scale genomics-based study has suggested an association between variation and cerebral palsy, there have been no detailed case descriptions. We report, here, a female individual with a de novo pathogenic c.
View Article and Find Full Text PDFNat Rev Gastroenterol Hepatol
November 2022
Victorian Infectious Diseases Reference Laboratory, Royal Melbourne Hospital at the Peter Doherty Institute for Infection and Immunity, Melbourne, Australia.
Globally, 296 million people are infected with hepatitis B virus (HBV), and approximately one million people die annually from HBV-related causes, including liver cancer. Although there is a preventative vaccine and antiviral therapies suppressing HBV replication, there is no cure. Intensive efforts are under way to develop curative HBV therapies.
View Article and Find Full Text PDFAm J Med Genet A
October 2022
Department of Human Genetics, Bioscientia Institute for Medical Diagnostics, Ingelheim, Germany.
ERF-related craniosynostosis syndrome type 4 (CRS4, OMIM #600775) is a rare autosomal dominant malformation syndrome, caused by pathogenic variants in the ERF gene and characterized by craniosynostosis, developmental delay, and dysmorphic features such as hypertelorism, exophthalmos, depressed nasal bridge, and retrognathia. So far, there are mostly individual reports and only a few descriptions of families with more than two affected patients, allowing statements about the penetrance of a certain variant and its variability only to a limited extent. In this study, we report an in-depth analysis of the clinical course of six family members from three generations with the novel heterozygous nonsense variant c.
View Article and Find Full Text PDFEur J Med Genet
September 2022
Neonatology Unit, Mother-Child Department, University Hospital of Modena, Italy.
Autosomal recessive cutis laxa type IIIA is a very rare genetic condition, caused by pathogenic variants in ALDH18A1, encoding delta-1-pyrroline-5-carboxylate synthase (P5CS). This enzyme catalyzes the reduction of glutamic acid to delta1-pyrroline-5-carboxylate, playing a key role in the de novo biosynthesis of proline, ornithine, and arginine. Autosomal recessive cutis laxa type IIIA is characterized by abundant and wrinkled skin, skeletal anomalies, cataract or corneal clouding and neuro-developmental disorders of variable degree.
View Article and Find Full Text PDFNat Mater
August 2022
John A. Paulson School of Engineering and Applied Sciences, Harvard University, Cambridge, MA, USA.
Blood
September 2022
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
Somatic mutations in UBA1 cause vacuoles, E1 ubiquitin-activating enzyme, X-linked, autoinflammatory somatic (VEXAS) syndrome, an adult-onset inflammatory disease with an overlap of hematologic manifestations. VEXAS syndrome is characterized by a high mortality rate and significant clinical heterogeneity. We sought to determine independent predictors of survival in VEXAS and to understand the mechanistic basis for these factors.
View Article and Find Full Text PDFAm J Med Genet A
September 2022
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Eur J Hum Genet
September 2022
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Costello syndrome (CS) is caused by heterozygous HRAS germline mutations. Most patients share the HRAS variant p.Gly12Ser that is associated with a typical, homogeneous phenotype.
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