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

Nasal Transposition of the Split Lateral Rectus Muscle for Strabismus Associated With Bilateral 3-Nerve Palsy.

Am J Ophthalmol

October 2022

From the Departments of Ophthalmology (I.O., M.-M.U.D., D.G.H., A.S.S., L.R.D.), Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA. Electronic address:

Purpose: To determine the success rate and complications associated with nasal transposition of the split lateral rectus muscle (NTSLR) for treating bilateral 3-nerve palsy.

Design: Retrospective, interventional case series.

Methods: An international, multicenter registry was used for the study.

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Background: This study assessed the predictive performance of inflammatory, hepatic, coagulation, and cardiac biomarkers in patients with prediabetes and diabetes mellitus hospitalized for COVID-19 in Austria.

Methods: This was an analysis of a multicenter cohort study of 747 patients with diabetes mellitus or prediabetes hospitalized for COVID-19 in 11 hospitals in Austria. The primary outcome of this study was in-hospital mortality.

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Over the last two decades, transcatheter devices have been developed to repair or replace diseased mitral valves (). Transcatheter mitral valve repair () devices have been proven to be efficient and safe, but many anatomical structures are not compatible with these technologies. The most significant advantage of transcatheter mitral valve replacement () over transcatheter repair is the greater and more reliable reduction in mitral regurgitation.

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: Resilience-which we define as the "ability to bounce back from stress"-can foster successful aging among older, racially and ethnically diverse women. This study investigated the association between psychological resilience in the Women's Health Initiative Extension Study (WHI-ES) and three constructs defined by Staudinger's 2015 model of resilience and aging: (1) perceived stress, (2) non-psychological resources, and (3) psychological resources. We further examined whether the relationship between resilience and key resources differed by race/ethnicity.

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Background: Previous studies had limited power to assess the associations of circulating insulin-like growth factors (IGFs) and IGF-binding proteins (IGFBPs) with clinically relevant prostate cancer as a primary endpoint, and the association of genetically predicted IGF-I with aggressive prostate cancer is not known. We aimed to investigate the associations of IGF-I, IGF-II, IGFBP-1, IGFBP-2 and IGFBP-3 concentrations with overall, aggressive and early-onset prostate cancer.

Methods: Prospective analysis of biomarkers using the Endogenous Hormones, Nutritional Biomarkers and Prostate Cancer Collaborative Group dataset (up to 20 studies, 17 009 prostate cancer cases, including 2332 aggressive cases).

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Introduction: Patients with variants in the GNAO1 gene may present with life-threatening dystonic storm. There is little experience using pallidal deep brain stimulation (DBS) as an emergency treatment in such cases.

Case Description: We report on a 16-year-old girl with a variant in the GNAO1 gene (c.

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Article Synopsis
  • Reproductive factors, such as parity and breastfeeding, show varying associations with different subtypes of breast cancer, particularly distinguishing between estrogen receptor-positive and -negative types.
  • In a vast study involving over 23,000 cases and 71,000 controls, researchers used statistical methods to examine how these factors relate to intrinsic breast cancer subtypes like luminal A-like and triple-negative.
  • The findings revealed that parous women face a decreased risk of certain ER-positive breast cancers after a significant time post-birth, while they show an increased risk of triple-negative breast cancer, particularly soon after childbirth, indicating the complexity of reproductive biology's role in breast cancer risk.
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Variation in Mean Arterial Pressure Increases Falls Risk in Elderly Physically Frail and Prefrail Individuals Treated With Antihypertensive Medication.

Hypertension

September 2022

School of Public Health and Preventive Medicine, Monash University, Victoria, Australia (S.M.H., A.L.B., C.M.R., J.T.N., A.M.T., T.L.T.P., T.P., E.K.C., F.M.C., J.F.M.G.-T., P.R.C., J.J.M.).

Background: Impaired cerebral blood flow has been associated with an increased risk of falls. Mean arterial pressure (MAP) and variability in MAP have been reported to affect cerebral blood flow but their relationships to the risk of falls have not previously been reported.

Methods: Utilising data from the Aspirin in Reducing Events in the Elderly trial participants, we estimated MAP and variability in MAP, defined as within-individual SD of MAP from baseline and first 2 annual visits.

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Fully automated machine learning (AutoML) for predictive modeling is becoming a reality, giving rise to a whole new field. We present the basic ideas and principles of Just Add Data Bio (JADBio), an AutoML platform applicable to the low-sample, high-dimensional omics data that arise in translational medicine and bioinformatics applications. In addition to predictive and diagnostic models ready for clinical use, JADBio focuses on knowledge discovery by performing feature selection and identifying the corresponding biosignatures, i.

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cDC1 to cDC2: "Everything I do, Ido1 it for you".

Immunity

June 2022

Metabolic Crosstalk in Cancer, German Consortium of Translational Cancer Research (DKTK) & German Cancer Research Center (DKFZ), Heidelberg, Germany; Department of Neurology, National Center for Tumor Diseases, University Hospital Heidelberg, Heidelberg, Germany. Electronic address:

Distinct dendritic cell (DC) subsets exert specific functions in immune regulation, but their communication with each other has remained elusive. In this issue of Immunity, Gargaro et al. identify the IDO1-Kyn-AHR axis as a metabolic signaling pathway through which conventional DC subsets communicate and induce tolerogenicity.

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Purpose: Seropositivity for the HPV16-E6 oncoprotein is a promising marker for early detection of oropharyngeal cancer (OPC), but the absolute risk of OPC after a positive or negative test is unknown.

Methods: We constructed an OPC risk prediction model that integrates (1) relative odds of OPC for HPV16-E6 serostatus and cigarette smoking from the human papillomavirus (HPV) Cancer Cohort Consortium (HPVC3), (2) US population risk factor data from the National Health Interview Survey, and (3) US sex-specific population rates of OPC and mortality.

Results: The nine HPVC3 cohorts included 365 participants with OPC with up to 10 years between blood draw and diagnosis and 5,794 controls.

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Article Synopsis
  • Dubin-Johnson syndrome (DJS) is a rare condition causing neonatal cholestasis, often overlooked in diagnoses.
  • Two cases are reported: one patient was misdiagnosed until age 14, while her newborn son was diagnosed at 2 weeks old due to the same genetic mutation.
  • Early suspicion of DJS in cases of infantile cholestasis, especially when other tests are normal, can prevent unnecessary and costly medical procedures.
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Background: Rescue treatment for delayed cerebral ischemia (DCI) after subarachnoid hemorrhage can include induced hypertension (iHTN) and, in refractory cases, endovascular approaches, of which selective, continuous intraarterial nimodipine (IAN) is one variant. The combination of iHTN and IAN can dramatically increase vasopressor demand. In case of unsustainable doses, iHTN is often prioritized over IAN.

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Temporal changes in gastrointestinal fungi and the risk of autoimmunity during early childhood: the TEDDY study.

Nat Commun

June 2022

Alkek Center for Metagenomics and Microbiome Research, Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, TX, USA.

Fungal infections are a major health problem that often begin in the gastrointestinal tract. Gut microbe interactions in early childhood are critical for proper immune responses, yet there is little known about the development of the fungal population from infancy into childhood. Here, as part of the TEDDY (The Environmental Determinants of Diabetes in the Young) study, we examine stool samples of 888 children from 3 to 48 months and find considerable differences between fungi and bacteria.

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Aim: To investigate the association of anthropometric parameters [height, weight, body mass index (BMI), body surface area (BSA), and lean body mass (LBM)] with outcomes in atrial fibrillation (AF).

Methods And Results: Ten-thousand two-hundred twenty patients were enrolled [40.3% females, median age 70 (62-77) years, followed for 728 (interquartile range 653-745) days].

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Rivaroxaban is approved in various regions for the treatment of acute venous thromboembolism (VTE) in children aged between 0 and 18 years and was recently investigated for thromboprophylaxis in children aged between 2 and 8 years (with body weights <30 kg) with congenital heart disease who had undergone the Fontan procedure. In the absence of clinical data, rivaroxaban doses for thromboprophylaxis in post-Fontan children aged 9 years and older or ≥30 kg were derived by a bridging approach that used physiologically-based pharmacokinetic (PBPK) and population pharmacokinetic (popPK) models based on pharmacokinetic (PK) data from 588 pediatric patients and from adult patients who received 10 mg once daily for thromboprophylaxis after major orthopedic surgeries as a reference. Both models showed a tendency toward underestimating rivaroxaban exposure in post-Fontan patients aged between 2 and 5 years but accurately described rivaroxaban PK in post-Fontan patients aged between 5 and 8 years.

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Popeye domain containing protein 1 (POPDC1) is a highly conserved transmembrane protein essential for striated muscle function and homeostasis. Pathogenic variants in the gene encoding POPDC1 (BVES, Blood vessel epicardial substance) are causative for limb-girdle muscular dystrophy (LGMDR25), associated with cardiac arrhythmia. We report on four affected children (age 7-19 years) from two consanguineous families with two novel pathogenic variants in BVES c.

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Hyper-IgE and Carcinoma in CADINS Disease.

Front Immunol

June 2022

Department of Pediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

Background: Atopic dermatitis (AD) affects up to 25% of children and 10% of adults in Western countries. When severe or recurrent infections and exceedingly elevated serum IgE levels occur in AD patients, an inborn error of immunity (IEI) may be suspected. The International Union of Immunological Societies classification lists variants in different genes responsible for so-called Hyper-IgE syndromes.

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A unique type of Cu/O adduct with orthogonal (close to 90°) Cu-O-O-Cu arrangement has been proposed for initial stages of O binding at biological type III dicopper sites, and targeted ligand design has now allowed us to emulate such an adduct in a pyrazolate-based μη η-peroxodicopper(II) complex () with Cu-O-O-Cu torsion φ of 87°, coined intermediate. Full characterization of , including X-ray diffraction ( = 1.452 Å) and Raman spectroscopy (ν̃ = 807 cm), completes a series of closely related Cu/O intermediates featuring μη η-peroxodicopper(II) cores with φ ranging from 55° (, -peroxo ; Brinkmeier A.

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Background: Cockayne syndrome (CS) is a rare neurodegenerative disorder characterized by impaired neurological functions, cachectic dwarfism, microcephaly and photosensitivity. Complementation assays identify two groups of this disorder, CS type I (CSA) and CS type II (CSB), caused by mutations in ERCC8 and ERCC6, respectively.

Objectives: This study aimed to investigate the genetic basis of a consanguineous Pakistani family with three affected individuals presenting with typical clinical symptoms of CS.

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Identification of genes encoding β-lactamases (BLs) from short-read sequences remains challenging due to the high frequency of shared amino acid functional domains and motifs in proteins encoded by BL genes and related non-BL gene sequences. Divergent BL homologs can be frequently missed during similarity searches, which has important practical consequences for monitoring antibiotic resistance. To address this limitation, we built ROCker models that targeted broad classes (e.

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Objective: Using the Manhattan Lupus Surveillance Program, a multiracial/ethnic population-based registry, we aimed to compare 3 commonly used classification criteria for systemic lupus erythematosus (SLE) to identify unique cases and determine the incidence and prevalence of SLE using the EULAR/American College of Rheumatology (ACR) criteria.

Methods: SLE cases were defined as fulfilling the 1997 ACR, the Systemic Lupus International Collaborating Clinics (SLICC), or the EULAR/ACR classification criteria. We quantified the number of cases uniquely associated with each and the number fulfilling all 3 criteria.

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Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy.

Stem Cell Res

July 2022

Division of Neuropediatrics and Metabolic Medicine, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

Article Synopsis
  • Variants in neuronal tubulin isotypes can lead to serious neurodevelopmental disorders called tubulinopathies, which cause issues like developmental delays, motor impairments, and epilepsy.
  • Researchers created induced pluripotent stem cells (iPSCs) from blood cells of a female with a specific genetic mutation in the TUBA1A gene.
  • These iPSCs exhibited normal genetic structure and markers of pluripotency, making them valuable for studying the effects and mechanisms behind TUBA1A tubulinopathy.
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Recessive mutations in the SLC13A5 gene encoding the sodium-dependent citrate transporter are a recently identified cause of developmental and epileptic encephalopathy. Here, we describe a child harboring a novel homozygous loss-of-function mutation in the SLC13A5 gene (c.1496C>T-p.

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