8,110 results match your criteria: "Germany T.P.; and AOK Research Institute WIdO[Affiliation]"

Article Synopsis
  • BCG vaccines are widely administered to children, yet their effectiveness in preventing tuberculosis (TB) and mortality, especially in older populations, is still debated.
  • The study conducts a systematic review and meta-analysis of existing data from TB contact studies to evaluate the impact of BCG vaccination on TB development and mortality, focusing on age-specific effects.
  • A total of 14,927 records were found in the search for eligible studies published between 1998 and 2018, shaping the analysis of both prevalent and incident TB cases among vaccinated individuals.
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Variant in the Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.

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.

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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.

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Resource-Strengthening Training for Parents of Adolescents with Problematic Gaming (Res@t-P): A Clinical Pilot Study.

Int 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.

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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.

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Association of IRGM promoter region polymorphisms and haplotype with pulmonary tuberculosis in Pakistani (Punjab) population.

Tuberculosis (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.

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Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy.

Stem 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.

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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.

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Lessons Learned from Managing Antithrombotic Therapy in Children Supported with Pediatric Ventricular Assist Devices.

ASAIO J

November 2022

From the Pediatric Advanced Cardiac Therapies Program, Pediatric Advanced Cardiac Therapies Program, Lucile Packard Children's Hospital, Palo Alto, California.

Article Synopsis
  • Pediatric ventricular assist devices (VADs) face significant risks of complications like stroke and bleeding, which are leading causes of death and disability in these patients.
  • Recent developments in antithrombotic strategies, especially with drugs like bivalirudin, have shown promise in reducing neurologic events, particularly for smaller pediatric VADs.
  • The report aims to highlight current antithrombotic regimens linked to low complication rates and share 10 key lessons learned from 20 years of experience in managing pediatric VADs, focusing on methods to minimize clotting and bleeding risks beyond just the medication used.
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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.

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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.

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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.

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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.

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Epigenetic mechanism of L-type calcium channel β-subunit downregulation in short QT human induced pluripotent stem cell-derived cardiomyocytes with CACNB2 mutation.

Europace

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.

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Individuals with suspected non-celiac wheat sensitivity (NCWS) often report better tolerance of spelt ( ssp. ) compared to wheat ( ssp. ) bakery products.

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TAVR for All? The Surgical Perspective.

J 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.

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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.

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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.

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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.

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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.

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Article Synopsis
  • * Stiff environments in laboratory settings cause human monocytes to become more inflammatory and differentiate into dendritic cells, while a more flexible environment does not.
  • * Using a specific inhibitor (PI3K-γ) blocks these changes in cell behavior and decreases inflammatory cell types in mice with myelofibrosis, highlighting how the physical properties of the bone marrow contribute to its disease state.
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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.

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Article Synopsis
  • The study reports on seven patients with Marbach-Schaaf neurodevelopmental syndrome, all sharing the same genetic variant in the PRKAR1B gene, which affects their neurological development.
  • Key symptoms include global developmental delay, reduced pain sensitivity, and some behavioral issues, with only one patient formally diagnosed with autism spectrum disorder (ASD), suggesting a lower prevalence of ASD in this syndrome than previously thought.
  • The findings indicate that PRKAR1B plays a significant role in neuron function and highlights the need to explore molecular mechanisms to better understand the disorder's diverse clinical presentations.
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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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