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

Data-driven simulations to assess the impact of study imperfections in time-to-event analyses.

Am J Epidemiol

January 2025

Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, QC H3A 1Y7, Canada.

Quantitative bias analysis (QBA) permits assessment of the expected impact of various imperfections of the available data on the results and conclusions of a particular real-world study. This article extends QBA methodology to multivariable time-to-event analyses with right-censored endpoints, possibly including time-varying exposures or covariates. The proposed approach employs data-driven simulations, which preserve important features of the data at hand while offering flexibility in controlling the parameters and assumptions that may affect the results.

View Article and Find Full Text PDF

ESKEMAP: exact sketch-based read mapping.

Algorithms Mol Biol

May 2024

Department of Computer Science and Engineering, The Pennsylvania State University, University Park, USA.

Background: Given a sequencing read, the broad goal of read mapping is to find the location(s) in the reference genome that have a "similar sequence". Traditionally, "similar sequence" was defined as having a high alignment score and read mappers were viewed as heuristic solutions to this well-defined problem. For sketch-based mappers, however, there has not been a problem formulation to capture what problem an exact sketch-based mapping algorithm should solve.

View Article and Find Full Text PDF

BACKGROUNDCulture-based diagnostics are the gold standard for diagnosing pulmonary TB (PTB). We characterized culture practices by comparing cases with documented sputum culture to those without.METHODSUsing multivariable logistic regression, we examined associations between PTB case characteristics and no documented sputum culture reported to the U.

View Article and Find Full Text PDF

Infectious complications, including widespread human cytomegalovirus (CMV) disease, frequently occur after hematopoietic stem cell and solid organ transplantation due to immunosuppressive treatment causing impairment of T-cell immunity. Therefore, in-depth analysis of the impact of immunosuppressants on antiviral T cells is needed. We analyzed the impact of mTOR inhibitors sirolimus (SIR/S) and everolimus (EVR/E), calcineurin inhibitor tacrolimus (TAC/T), purine synthesis inhibitor mycophenolic acid (MPA/M), glucocorticoid prednisolone (PRE/P) and common double (T+S/E/M/P) and triple (T+S/E/M+P) combinations on antiviral T-cell functionality.

View Article and Find Full Text PDF

Pulsed Field Ablation of Atrial Fibrillation and Atrial Tachycardia in Adult Patients With Congenital Heart Disease.

Circ Arrhythm Electrophysiol

June 2024

Department of Pediatric Cardiology, Intensive Care Medicine and Neonatology (U.K., H.E.S., M.J.M., T.P.), University Medical Center, Georg-August-University Göttingen, Germany.

View Article and Find Full Text PDF

Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1.

J Invest Dermatol

December 2024

Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, Freiburg, Germany. Electronic address:

Article Synopsis
  • The study identified a new gene variant in NKPD1 linked to generalized lamellar ichthyosis among a family, enhancing the understanding of genetic factors in skin disorders.
  • This variant was confirmed to segregate with the disease in affected individuals, providing strong genetic evidence for its involvement.
  • Findings revealed NKPD1's potential role in skin lipid barrier formation and ceramide metabolism, differing from the previously known ASPRV1 association with autosomal dominant lamellar ichthyosis.
View Article and Find Full Text PDF
Article Synopsis
  • Leiomyoma is the most common benign tumor in female reproductive systems, while benign metastasizing leiomyoma (BML) is rare and usually found in the lungs without cancerous features.
  • *Fumarate hydratase-deficient uterine leiomyoma (FH-d UL) is a rare subtype of uterine tumors, mainly caused by genetic mutations, with some cases linked to hereditary conditions.
  • *This study presents two cases of women with metastasizing FH-d UL after surgery, showing lung metastases and additional organ involvement, highlighting the potential under-recognition of FH-d BML, possibly related to hereditary leiomyomatosis and renal cell carcinoma syndrome.
View Article and Find Full Text PDF

Deciphering Local Structural Complexity in Zn/Ga-ZrO CO Hydrogenation Catalysts.

J Phys Chem Lett

April 2024

Department of Chemistry, NIS Center and INSTM Reference Center, University of Turin, 10125 Turin, Italy.

In the last few decades, massive effort has been expended in heterogeneous catalysis to develop new materials presenting high conversion, selectivity, and stability even under high-temperature and high-pressure conditions. In this context, CO hydrogenation is an interesting reaction where the catalyst local structure is strongly related to the development of an active and stable material under hydrothermal conditions at / > 300 °C/30 bar. In order to clarify the relationship between catalyst local ordering and its activity/stability, we herein report a combined laboratory and synchrotron investigation of aliovalent element (Ce/Zn/Ga)-containing ZrO matrixes.

View Article and Find Full Text PDF

Background And Objectives: Access to the jugular fossa pathologies (JFPs) via the transmastoid infralabyrinthine approach (TI-A) using the nonrerouting technique (removing the bone anterior and posterior to the facial nerve while leaving the nerve protected within the fallopian canal) or with the short-rerouting technique (rerouting the mastoid segment of the facial nerve anteriorly) has been described in previous studies. The objective of this study is to compare the access to Fisch class C lesions (JFPs extending or destroying the infralabyrinthine and apical compartment of the temporal bone with or without involving the carotid canal) between the nonrerouting and the short-rerouting techniques. Also, some tailored steps to the nonrerouting technique (NR-T) were outlined to enhance access to the jugular fossa (JF) as an alternative to the short-rerouting technique.

View Article and Find Full Text PDF

Potential of GPT-4 for Detecting Errors in Radiology Reports: Implications for Reporting Accuracy.

Radiology

April 2024

From the Institute of Diagnostic and Interventional Radiology (R.J.G., T.D., A.C.B., S.L., A.I.I., T.P., L.P., C.H.G., P.F., D.M., R.H., J.K.) and Institute of Medical Statistics and Bioinformatics (M.G.H.), Faculty of Medicine, University Hospital Cologne, University of Cologne, Kerpener Strasse 62, 50937 Cologne, Germany.

Background Errors in radiology reports may occur because of resident-to-attending discrepancies, speech recognition inaccuracies, and large workload. Large language models, such as GPT-4 (ChatGPT; OpenAI), may assist in generating reports. Purpose To assess effectiveness of GPT-4 in identifying common errors in radiology reports, focusing on performance, time, and cost-efficiency.

View Article and Find Full Text PDF
Article Synopsis
  • Dystroglycan (DG) is a receptor made up of α- and β-DG subunits, and a specific mutation in the β-DG subunit is linked to muscle-eye-brain disease in humans.
  • In a mouse model with this mutation, many embryos do not survive to term, but those that do show normal early development but later develop muscle issues and changes in protein localization affecting the blood-brain barrier.
  • The mutant mice have reduced levels of DG proteins in muscle and brain, making them a valuable model for studying the effects of β-DG alterations and the underlying mechanisms of a related disease.
View Article and Find Full Text PDF

Objective: To compare image quality and diagnostic performance of 3T and 7T magnetic resonance imaging (MRI) for direct depiction of finger flexor pulleys A2, A3 and A4 before and after artificial pulley rupture in an ex-vivo model using anatomic preparation as reference.

Materials And Methods: 30 fingers from 10 human cadavers were examined at 3T and 7T before and after being subjected to iatrogenic pulley rupture. MRI protocols were comparable in duration, both lasting less than 22 min.

View Article and Find Full Text PDF

This study evaluated a depot-formulated cytokine-based adjuvant to improve the efficacy of the recombinant F1V (rF1V) plague vaccine and examined the protective response following aerosol challenge in a murine model. The results of this study showed that co-formulation of the Alhydrogel-adsorbed rF1V plague fusion vaccine with the depot-formulated cytokines recombinant human interleukin 2 (rhuIL-2) and/or recombinant murine granulocyte macrophage colony-stimulating factor (rmGM-CSF) significantly enhances immunogenicity and significant protection at lower antigen doses against a lethal aerosol challenge. These results provide additional support for the co-application of the depot-formulated IL-2 and/or GM-CSF cytokines to enhance vaccine efficacy.

View Article and Find Full Text PDF

Randomized controlled trial of two internet-based written therapies for world trade center workers and survivors with persistent PTSD symptoms.

Psychiatry Res

June 2024

Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA; United States Department of Veterans Affairs National Center for Posttraumatic Stress Disorder, Clinical Neurosciences Division, VA Connecticut Healthcare System, West Haven, CT, USA.

Article Synopsis
  • The study investigated the effectiveness of an Internet-based therapy for PTSD in survivors of the 9/11 attacks, comparing it to an active control therapy focused on present-centered issues.
  • A total of 105 participants were enrolled, with a large majority experiencing full PTSD symptoms, and they completed 11 assigned written narratives as part of their treatment.
  • Results showed that while both therapies led to significant reductions in PTSD symptoms and improved mental health, integrative testimonial therapy (ITT) was particularly effective in reducing avoidance behavior and negative cognitive changes.
View Article and Find Full Text PDF

Background: Work stress is considered as a risk factor for coronary heart disease, but its link with heart rate variability (HRV) among heart attack survivors is unknown yet. The aim of this study was to investigate associations between baseline work stress and the changes of HRV over one-year after onset of acute coronary syndrome (ACS).

Methods: Hundred and twenty-two patients with regular paid work before their first ACS episode were recruited into this hospital-based longitudinal cohort study.

View Article and Find Full Text PDF

Tricuspid Regurgitation and TAVR: Outcomes, Risk Factors and Biomarkers.

J Clin Med

March 2024

Department of Cardiac and Vascular Surgery, University Medical Center Schleswig-Holstein, Campus Kiel, Arnold-Heller Strasse 3, D-24105 Kiel, Germany.

. The significance of concomitant tricuspid regurgitation (TR) in the context of transcatheter aortic valve replacement (TAVR) remains unclear. This study aimed to analyze the severity of TR before and after TAVR with regard to short- and long-term survival and to analyze the influencing factors.

View Article and Find Full Text PDF

Introduction: Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms of obesity. The " () gene encodes for a centrosomal and ciliary protein. Homozygous variants in the gene are extremely rare causes of early-onset severe monogenic obesity.

View Article and Find Full Text PDF

Purpose: The purpose of this study was to characterize the phenotype associated with a de novo gain-of-function variant in the GUCY1A2 gene.

Methods: An individual carrying the de novo heterozygous variant c.1458G>T p.

View Article and Find Full Text PDF

Targeted review of mutations in patients with generalised pustular psoriasis.

Skin Health Dis

April 2024

Boehringer Ingelheim International GmbH Ingelheim am Rhein Germany.

Background: Generalised pustular psoriasis (GPP) is a rare and chronic skin disease historically treated with therapies that were originally intended to treat plaque psoriasis (PsO). However, GPP and plaque PsO have distinct pathogeneses and clinical courses.

Objectives: This study aimed to further characterise the unique genetic background of GPP by summarising evidence on the frequency and type of 6RN gene mutation, a gene that normally suppresses proinflammatory responses, in patients with GPP compared to patients with GPP and plaque PsO, and patients with plaque PsO only.

View Article and Find Full Text PDF

PREFUL MRI for Monitoring Perfusion and Ventilation Changes after Elexacaftor-Tezacaftor-Ivacaftor Therapy for Cystic Fibrosis: A Feasibility Study.

Radiol Cardiothorac Imaging

April 2024

From the Department of Diagnostic and Interventional Radiology (M.D., A.V., F.K., T.F.K., J.G., D.M.R., F.W., J.V.C.), German Center for Lung Research (DZL), Biomedical Research in Endstage and Obstructive Lung Disease (BREATH) (A.V., F.K., T.F.K., J.G., S.T.P., F.C.R., G.H., F.W., A.M.D., J.V.C.), Department for Pediatric Pneumology, Allergology and Neonatology (S.T.P., G.H., A.M.D., J.V.C.), and Department of Respiratory Medicine (F.C.R.), Hannover Medical School, Carl-Neuberg-Str 1, 30625 Hannover, Germany; and European Reference Network on Rare and Complex Respiratory Diseases (ERN-LUNG), Frankfurt, Germany (F.C.R.).

Purpose To assess the feasibility of monitoring the effects of elexacaftor-tezacaftor-ivacaftor (ETI) therapy on lung ventilation and perfusion in people with cystic fibrosis (CF), using phase-resolved functional lung (PREFUL) MRI. Materials and Methods This secondary analysis of a multicenter prospective study was carried out between August 2020 and March 2021 and included participants 12 years or older with CF who underwent PREFUL MRI, spirometry, sweat chloride test, and lung clearance index assessment before and 8-16 weeks after ETI therapy. For PREFUL-derived ventilation and perfusion parameter extraction, two-dimensional coronal dynamic gradient-echo MR images were evaluated with an automated quantitative pipeline.

View Article and Find Full Text PDF
Article Synopsis
  • Nine out of 19 genes that code for GABA receptor subunits are linked to disorders associated with seizures and developmental issues.
  • The study identified three new de novo missense variants in the GABRA4 gene in patients with epilepsy and various neurodevelopmental problems, highlighting a connection between these genetic changes and neurological symptoms.
  • Molecular dynamics simulations showed that the mutated GABRA4 subunits behave differently than the normal ones, supporting the role of this gene in causing a range of neurological conditions.
View Article and Find Full Text PDF

Complexity of avian evolution revealed by family-level genomes.

Nature

May 2024

Center for Evolutionary & Organismal Biology, Liangzhu Laboratory & Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Article Synopsis
  • Relationships among avian lineages remain unresolved due to factors like species diversity, phylogenetic methods, and selection of genomic regions.
  • An analysis of 363 bird species' genomes reveals a well-supported evolutionary tree but highlights significant discrepancies among certain groups.
  • Findings suggest that after the Cretaceous-Palaeogene extinction, birds experienced increased population size and diversification, which offers a new foundational understanding for future research in avian evolution.
View Article and Find Full Text PDF

Successful Control of Subspecies Infection in a Dairy Herd within a Decade-A Case Study.

Animals (Basel)

March 2024

Animal Health Service, Thuringian Animal Diseases Fund, Victor-Goerttler-Straße 4, 07745 Jena, Germany.

This longitudinal case study provides an in-detail report of the process towards the elimination of subsp. (MAP) from a closed 450-head commercial dairy herd. In parallel, two diagnostic approaches were applied to all cows in annual intervals during 2012-2022: detection of MAP in individual faecal samples by bacteriological cultivation on solid medium and detection of MAP-specific antibodies by ELISA.

View Article and Find Full Text PDF

Reduction of false positives using zone-specific prostate-specific antigen density for prostate MRI-based biopsy decision strategies.

Eur Radiol

October 2024

Department of Radiology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

Article Synopsis
  • The study aimed to improve prostate cancer biopsy decision strategies by combining zone-specific prostate-specific antigen density (sPSAD) with the PI-RADS system.
  • Using a deep learning system, researchers segmented MRI images to calculate sPSAD for the whole gland and transition zone, yielding better detection rates for significant prostate cancer compared to traditional methods.
  • The findings indicated that adopting sPSAD reduced false positives and enhanced specificity in biopsy decisions, particularly in cases classified as PI-RADS 3, while still maintaining high sensitivity for detecting more serious cancer cases.
View Article and Find Full Text PDF

Aims: To examine psychometric properties including the factor structure of the German versions of the Diabetes Treatment Satisfaction Questionnaire for teens and parents (DTSQ-T/-P).

Methods: Linguistically validated questionnaires were completed by 363 adolescents with type 1 diabetes and 655 parent-caregivers in a multicenter study. Confirmatory factor analysis (CFA), reliability, and correlations were examined.

View Article and Find Full Text PDF