22,778 results match your criteria: "Ludwig-Maximilians-University[Affiliation]"

RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.

Genet Med

December 2024

Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:

Article Synopsis
  • RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
  • The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
  • Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
View Article and Find Full Text PDF

Plate tectonics, cold adaptation and long-distance range expansion to remote archipelagos and the high Andes as drivers of a circumantarctic freshwater arthropod radiation.

Mol Phylogenet Evol

December 2024

SNSB-Zoologische Staatssammlung München, Münchhausenstraße 21, D-81247 Munich, Germany; GeoBio-Center, Ludwig-Maximilians-University, Richard-Wagner-Straße 10, D-80333 Munich, Germany.

Disjunct distributions, characterised by spatially separated populations of related species, offer insights into historical biogeographic patterns and evolutionary processes. This study investigates the evolutionary history of the diving beetle subfamily Lancetinae through a phylogenomic approach incorporating ultraconserved elements (UCEs) and heritage genetic markers. Our findings support an early Miocene origin for Lancetinae, with subsequent diversification influenced by historical vicariance events and long-distance dispersal.

View Article and Find Full Text PDF

Here, we review the taxonomy and population genetic structure of diving beetles in the genus Liodessus Guignot, 1939 from the high Andes of southern Colombia and Ecuador. Liodessus quillacinga ecuadoriensis ssp. nov.

View Article and Find Full Text PDF

Background: Heart failure (HF) often occurs in patients with atrial fibrillation (AF), with a major impact on prognosis. Few data are available on the effect of integrated treatment strategies to improve prognosis in patients with AF. We aimed to evaluate the association between HF (according to left ventricular ejection fraction [LVEF]), HF optimal medical therapy and adherence to the Atrial Fibrillation Better Care pathway, and major outcomes in patients with AF.

View Article and Find Full Text PDF

This guideline was developed in close collaboration with multidisciplinary experts from the European Association of Dermato-Oncology (EADO), the European Dermatology Forum (EDF) and the European Organization for Research and Treatment of Cancer (EORTC). Recommendations for the diagnosis and treatment of melanoma were developed on the basis of systematic literature research and consensus conferences. Cutaneous melanoma (CM) is the most dangerous form of skin tumor and accounts for 90 % of skin cancer mortality.

View Article and Find Full Text PDF

Importance: Limited studies have assessed the long-term benefit/risk of gene therapy for Leber hereditary optic neuropathy (LHON).

Objective: To determine the safety and efficacy of lenadogene nolparvovec in patients with LHON due to the MT-ND4 gene variant for up to 5 years after administration.

Design, Setting, And Participants: The RESCUE and REVERSE Long-Term Follow-up Study (RESTORE), conducted from 2018 to 2022, is the 5-year follow-up study of the 2 phase 3 clinical studies RESCUE (Efficacy Study of Lenadogene Nolparvovec for the Treatment of Vision Loss Up to 6 Months From Onset in LHON Due to the MT-ND4 Mutation) and REVERSE (Efficacy Study of Lenadogene Nolparvovec for the Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the MT-ND4 Mutation).

View Article and Find Full Text PDF

Cytosolic S100A8/A9 promotes Ca supply at LFA-1 adhesion clusters during neutrophil recruitment.

Elife

December 2024

Walter Brendel Center of Experimental Medicine, Biomedical Center, Institute of Cardiovascular Physiology and Pathophysiology, Ludwig-Maximilians-University, Planegg-Martinsried, München, Germany.

S100A8/A9 is an endogenous alarmin secreted by myeloid cells during many acute and chronic inflammatory disorders. Despite increasing evidence of the proinflammatory effects of extracellular S100A8/A9, little is known about its intracellular function. Here, we show that cytosolic S100A8/A9 is indispensable for neutrophil post-arrest modifications during outside-in signaling under flow conditions in vitro and neutrophil recruitment in vivo, independent of its extracellular functions.

View Article and Find Full Text PDF

Background: Understanding the interplay of muscle activity in the upper face is crucial as it can significantly impact the effectiveness and safety of aesthetic treatments. Traditional injection algorithms typically focus on the general 2D and 3D anatomy of muscles, often neglecting the areas where muscles exert the greatest force during facial expressions.

Objectives: To analyze the location of greatest morphological change in upper facial muscles procerus muscle (PM), corrugator supercilia muscle (CSM), orbicularis oculi muscle (OOM) and frontalis muscle (FM) during various facial expressions.

View Article and Find Full Text PDF

[Concept of coronal alignment in total knee arthroplasty].

Rev Med Suisse

December 2024

Service de chirurgie orthopédique et traumatologie de l'appareil moteur, Hôpitaux universitaires de Genève, 1211 Genève 14.

Total knee arthroplasty (TKA) is one of the most performed orthopedic surgeries worldwide. For many years, TKA implants were positioned according to a systematic approach known as mechanical alignment, which prioritized implant survival over the restoration of a more physiological knee. A high dissatisfaction rate of 20% after knee prosthesis has led to a rethinking of coronal alignment and a move towards a more personalized approach.

View Article and Find Full Text PDF

Purpose: Currently, maxillary sinus floor (SF) elevation is based on off-the-shelf allogeneic, xenogeneic or synthetic bone augmentation materials (BAM) that are implanted via an open lateral sinus wall approach (OSFE). However, this invasive method is associated with postoperative complications caused by an inadequate blood supply of the alveolar ridge. Balloon-assisted procedures are minimal invasive alternatives with lower complication rates.

View Article and Find Full Text PDF

Intra-operative tensioning of the posterior cruciate ligament (PCL) in total knee arthroplasty (TKA) is commonly based on the surgeon's experience, resulting in a possibly loose or overly tight PCL. To date, the consequences of different PCL tensioning scenarios for the post-operative biomechanics of the knee remain unclear. Using a comprehensive musculoskeletal modelling approach that allows predictive joint kinematic and kinetic balance, we assessed variations in the movement and loading patterns of the knee as well as changes in ligament and muscle forces during walking in response to systematic variations in the PCL reference strain.

View Article and Find Full Text PDF

Robot-assisted microsurgery: a single-center experience of 100 cases.

J Robot Surg

December 2024

Department of Hand, Plastic and Reconstructive Surgery, Department of Hand and Plastic Surgery, BG Trauma Center Ludwigshafen, Heidelberg University, Ludwig Guttmann-Straße 13, 67071, Ludwigshafen, Germany.

The adoption of robot-assisted microsurgery (RAMS) is a cutting-edge advancement in the realm of microsurgery. The Symani Surgical System is CE approved and has recently gained FDA approval. It provides tremor elimination, motion scaling and improved ergonomics.

View Article and Find Full Text PDF

Fluoromethyl triflate (superfluoromethyl, SFM, FCH2OSO2CF3) and fluoromethyl fluorosulfonate (magic fluoromethyl, MFM, FCH2OSO2F) are two easily synthesized, highly effective and non-ozone depleting fluoromethylation reagents. They are analogous to the well-known and widely used methylation re-agents CH3OSO2CF3 and CH3OSO2F. Both SFM and MFM have been fully characterized by multinuclear NMR spectroscopy (1H, 13C, 17O, 19F, 33S).

View Article and Find Full Text PDF

Anionic polymer coating for enhanced delivery of Cas9 mRNA and sgRNA nanoplexes.

Biomater Sci

December 2024

Ludwig-Maximilians-University, Department of Pharmacy, Pharmaceutical Technology and Biopharmaceutics, Butenandtstraße 5-13, Munich, 81377, Germany.

Polymeric carriers have long been recognized as some of the most effective and promising systems for nucleic acid delivery. In this study, we utilized an anionic di-block co-polymer, PEG-PLE, to enhance the performance of lipid-modified PEI (C14-PEI) nanoplexes for delivering Cas9 mRNA and sgRNA targeting KRAS G12S mutations in lung cancer cells. Our results demonstrated that PEG-PLE, when combined with C14-PEI at a weight-to-weight ratio of 0.

View Article and Find Full Text PDF

The therapeutic aim for rheumatoid arthritis (RA) is to control disease activity and prevent radiographic progression. Various clinical scores are used to assess disease activity in RA patients. The DAS 28 score can define states of low disease activity (LDA) and remission.

View Article and Find Full Text PDF

TPC2: From Blond Hair to Melanoma?

Cancers (Basel)

December 2024

Walther Straub Institute of Pharmacology and Toxicology, Faculty of Medicine, Ludwig Maximilians University, 80336 Munich, Germany.

Two-pore channel 2 (TPC2) is expressed in endolysosomes throughout the human body, as well as in melanosomes of melanocytes. Melanocytes produce pigment, i.e.

View Article and Find Full Text PDF

Primary care in rural areas: a qualitative study on medical students' images and experiences of working in rural areas in southern Germany.

BMC Prim Care

December 2024

Institute of General Practice and Health Services Research, TUM School of Medicine and Health, Department Clinical Medicine, Technical University of Munich, Munich, Germany.

Background: Rural areas are increasingly moving back into the focus of social research, especially in the context of health care. As the shortage of general practitioners (GP) in rural areas is a significant challenge in Germany, there are several programs to counteract underuse effectively, acutely, and sustainably. One of those programs is 'Beste Landpartie Allgemeinmedizin' (BeLA), which was developed to strengthen primary care in rural areas and to sustainably promote young doctors to work as general practitioners in rural regions through didactical and financial support.

View Article and Find Full Text PDF

Background: Distal sensorimotor polyneuropathy (DSPN) is a common neurological disorder in elderly adults and people with obesity, prediabetes and diabetes and is associated with high morbidity and premature mortality. DSPN is a multifactorial disease and not fully understood yet.

Methods: Here, we developed the Interpretable Multimodal Machine Learning (IMML) framework for predicting DSPN prevalence and incidence based on sparse multimodal data.

View Article and Find Full Text PDF

Background: The Personalized Advantage Index (PAI) shows promise as a method for identifying the most effective treatment for individual patients. Previous studies have demonstrated its utility in retrospective evaluations across various settings. In this study, we explored the effect of different methodological choices in predictive modelling underlying the PAI.

View Article and Find Full Text PDF

Evolution of CEACAM pathogen decoy receptors in primates.

Eur J Clin Invest

December 2024

Institute of Immunology, Friedrich-Loeffler-Institut, Federal Research Institute for Animal Health, Greifswald, Germany.

Background: CEACAM1 in leukocytes controls cell activation during inflammation. This and its expression in epithelial cells led to frequent independent appropriation of CEACAM1 as receptor by pathogens in humans and other species to gain host access and to downregulate its immune response. As a countermeasure, decoy receptors with CEACAM1-like pathogen-binding domains evolved.

View Article and Find Full Text PDF

Objective: Evaluate the efficacy and safety of guselkumab, an interleukin (IL)-23 inhibitor, in a Phase 2, multicentre, randomized, double-blind, placebo-controlled study of patients with active lupus nephritis (LN).

Methods: Adults (18-75 years) with active LN (Class III-IV proliferative nephritis [kidney biopsy] and urine protein-to-creatinine ratio [UPCR)] of ≥ 1 mg/mg despite standard-of-care therapy) were randomized (1:1; planned sample = 60) to receive intravenous infusions of guselkumab 400 mg or placebo at Weeks 0, 4, and 8, then subcutaneous injections (guselkumab 200 mg or placebo) at Week12 and every 4 weeks through Week48 in addition to their background therapy. The primary end point was achievement of ≥ 50% decrease in proteinuria from baseline at Week24.

View Article and Find Full Text PDF

Background: Inherited epidermolysis bullosa (EB) comprises a group of genetic disorders characterized by skin fragility and unique oral features. It requires interdisciplinary care from several health professionals, including oral health teams. Modern dentistry encompasses a wide range of therapeutic options performed by specialists from different fields.

View Article and Find Full Text PDF

Objectives: To prospectively evaluate the wear of posterior zirconia resin-bonded fixed partial dentures (RBFPDs) with polished occlusal surfaces and their natural enamel antagonists compared to contralateral controls in an enamel-enamel contact over 5 years.

Materials And Methods: In six patients with either an inlay- or wing-retained RBFPD made of monolithic 3 mol% yttria-stabilized tetragonal zirconia polycrystal (3Y-TZP), wear was evaluated indirectly using baseline and annual polyvinyl siloxane impressions. Resulting gypsum models were digitized and aligned by unchanged surface areas.

View Article and Find Full Text PDF

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

View Article and Find Full Text PDF