Impact of genetic test interpretation on a missense variant in Cohen syndrome.

Introduction: Cohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers and future prospects. CS is predominantly caused by rare homozygous or compound heterozygous pathogenic variants in the vacuolar protein sorting-associated 13B () gene, which disrupt protein translation and lead to a loss of function (LoF) of the encoded VPS13B protein.

Bayesian Reanalyses of the Trials TOMAHAWK and COACT.

Background: The timing of coronary angiography in patients with successfully resuscitated out-of-hospital cardiac arrest and missing ST-segment elevations on the electrocardiogram has been investigated in 2 large randomized controlled trials, TOMAHAWK (Angiography After Out-of-Hospital Cardiac Arrest Without ST-Segment Elevation) and COACT (Coronary Angiography After Cardiac Arrest Trial). Both trials found neutral results for immediate vs delayed/selective coronary angiography on short-term all-cause mortality. The TOMAHAWK trial showed a tendency towards harm with immediate coronary angiography, though not statistically significant with traditional frequentist methods.

Pros and cons of sub-specialisation in orthopaedics and traumatology-Is the general orthopaedic and trauma surgeon a relic of the past?

The evolution of orthopaedics has witnessed a pronounced shift from generalist practice to subspecialisation, a trend that has fundamentally reshaped the field over the past century. Originally, orthopaedic surgeons were trained to address a broad spectrum of musculoskeletal conditions. However, increasing complexity and specialization in knowledge have driven a progressive narrowing of focus within orthopaedics.

Visual quality of life in NMOSD and MOGAD: profiles, dynamics and associations with ageing and vision.

Objective: In this multicentric study, we were interested in the vision-related quality of life and its association with visual impairment in neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) in comparison to multiple sclerosis (MS) and healthy controls.

Methods: We analysed extracted data from the German NEMOS registry including National Eye Institute Visual Function Questionnaire (NEI-VFQ) scores, high and low contrast visual acuity (HCVA, LCVA), visually evoked potentials (VEP) and the scores for the expanded disability status scale (EDSS) and other neurological tests which assessed their disease-related impairment. The mean follow-up time of our patients was 1.

European S2k guidelines for hidradenitis suppurativa/acne inversa part 2: Treatment.

Introduction: This second part of the S2k guidelines is an update of the 2015 S1 European guidelines.

Objective: These guidelines aim to provide an accepted decision aid for the selection, implementation and assessment of appropriate and sufficient therapy for patients with hidradenitis suppurativa/acne inversa (HS).

Methods: The chapters have been selected after a Delphi procedure among the experts/authors.

Medical education videos - comparative analysis of sonography vs. clinical examination videos: user perception and educational value.

Background: Video content has become an increasingly valuable tool in medical education, particularly for teaching hands-on skills like sonography and clinical examination. This study evaluates the satisfaction and content of sonography and clinical examination videos on the AMBOSS platform, a prominent medical education resource in Germany.

Objective: The goal of this study was to compare how effective and well-received sonography and clinical examination videos are on the AMBOSS platform.

Lifetime risk of lower extremity peripheral arterial disease: a Danish nationwide longitudinal study.

Background And Aims: Lower extremity peripheral arterial disease (PAD) presents a substantial disease burden, yet lifetime estimates remain scant. This nationwide study quantified the lifetime risk of PAD and its clinical outcomes in Denmark.

Methods: This cohort study included 4 275 631 individuals in Denmark aged 40-99 years between 1998 and 2018.

Antibiotic prophylaxis in oral implant surgery in Germany: a cross-sectional study.

Purpose: Prophylactic antibiotics are used in dental implants to reduce infection risk and implant failure, especially benefiting patients with risk factors. However, evidence suggests that using clindamycin or extending antibiotics postoperatively has an unfavorable risk-benefit ratio.

Methods: This national cross-sectional study analyzed antibiotic prophylaxis during implant insertion across Germany.

Epidemiology and treatment of Adamantiades-Behçet's disease in Germany: A healthcare claims database study.

Background: Adamantiades-Behçet's disease (ABD) is a rare, chronic, relapsing, multisystem vasculitis, with a reported prevalence of 0.9 out of 100,000 population in Germany in 2012. However, more recent epidemiological data are lacking.

Role of AMPK and Sirtuins in Aging Heart: Basic and Translational Aspects.

Aging is a key risk factor for numerous diseases, including cardiac diseases. High energy demands of the heart require precise cellular energy sensing to prevent metabolic stress. AMPK and sirtuins are key intracellular metabolic sensors regulating numerous cell functions, like mitochondrial function and biogenesis, autophagy, and redox balance.

Myeloperoxidase and N-terminal proatrial natriuretic peptide as predictors for atrial fibrillation recurrence in patients undergoing redo ablation.

Background: Atrial fibrillation (AF) is a progressively developing arrhythmia. Electroanatomic remodeling may play an important role, both in the development of the disease and in the perpetuation and thus in the recurrence of AF.

Objective: This study aimed to investigate potential biomarkers myeloperoxidase (MPO), N-terminal proatrial natriuretic peptide (NT-proANP), intercellular adhesion molecule-1, and matrix metalloproteinase-2 and their predictive value for AF recurrence in patients undergoing redo ablation.

Risk factors for flap dehiscence and/or necrosis following standard rotational flap in cranial vault osteomyelitis without intracranial involvement: A retrospective study.

Objectives: The study aimed to estimate the incidence of flap dehiscence and/or necrosis (FD/N) following standard rotational flap (SRF) surgery for cranial vault osteomyelitis without intracranial involvement (CVO) and to identify factors associated with these complications.

Methods: A retrospective study was conducted using chart reviews of patients who underwent SRF to cover CVO defects over a 10-year period. Twenty-one predictor variables were analysed, categorised into demographic, health status, anatomic, and surgical factors.

Improved survival of advanced melanoma patients receiving immunotherapy with concomitant antithrombotic therapy - A multicenter study on 2419 patients from the prospective skin cancer registry ADOReg.

Background: Cancer immunotherapy has revolutionized melanoma treatment, but the high number of non-responders still emphasizes the need for improvement of therapy. One potential avenue for enhancing anti-tumor treatment is through the modulation of coagulation and platelet activity. Both have been found to play an important role in the tumor microenvironment, tumor growth and metastasis.

Cell-free plasma telomere length correlated with the risk of cardiovascular events using machine learning classifiers.

This retrospective study explored the association between circulating cell-free plasma telomere length (cf-TL) and coronary artery disease (CAD) and heart failure (HF). Data from 518 participants were collected, including clinical and laboratory data. cf-TL was measured in plasma samples and machine learning (ML) classification models were developed to differentiate between CAD, HF and control conditions.

Use and application of geographical restrictions in systematic reviews with the aim of including studies about Germany: An update of a methodological review.

Background: In systematic reviews (SRs), geographical limitations in literature searches can aid in focussing research efforts. A methodological review published in 2016 examined the approaches SR authors use to identify studies about Germany, analysing 36 SRs.

Objective: The aim of this study was to update the original review.

Performance of Urinary Markers in Patients With Suspicious Cystoscopy During Follow-up of Recurrent Non-muscle Invasive Bladder Cancer: BTA Stat, NMP22 BladderChek, UBC Rapid Test, CancerCheck UBC Rapid VISUAL, and Uromonitor in Comparison to Cytology.

Objective: To compare all available rapid tests on a large cohort of recurrent bladder cancer during follow-up in this multicentre-study is the first study. BTA stat, NMP22 BladderChek, UBC Rapid Test CancerCheck UBC rapid VISUAL, and uromonitor are urinary-based rapid tests for bladder cancer detection.

Methods: In total, 187 urine samples were analyzed from patients with suspected recurrent non-muscle invasive urothelial bladder cancer on cystoscopy during follow-up in a real-world assessment.

Altered ACE2 and interferon landscape in the COVID-19 microenvironment correlate with the anti-PD-1 response in solid tumors.

Angiotensensin-converting enzyme-2 (ACE2) is a receptor for SARS-CoV-2, allowing the virus to enter cells. Although tumor patients infected by SARS-CoV-2 often have a worse outcome, the expression, function and clinical relevance of ACE2 in tumors has not yet been thoroughly analyzed. In this study, RNA sequencing (RNA-seq) data from tumors, adjacent tissues and whole blood samples of COVID-19 patients from genome databases and from tumor cell lines and endothelial cells infected with different SARS-CoV-2 variants or transfected with an ACE2 expression vector (ACE2) or mock (ACE2) were analyzed for the expression of ACE2 and immune response relevant molecules in silico or by qPCR, flow cytometry, Western blot and/or RNA-seq.

Self-efficacy, social support and oral health-related quality of life in patients with kidney transplantation and under hemodialysis.

Background: Aim of this questionnaire-based cross-sectional study was to compare self-efficacy, social support, oral hygiene-related self-efficacy (OHRSE) and oral health-related quality of life (OHRQoL) between patients under chronic hemodialysis (HD) and patients after kidney transplantation (KTx) as well as a healthy comparison group (HC).

Methods: Patients under HD were recruited during their routine outpatient dialysis therapy, KTx patients during their maintenance appointment and HC patients during their regular dental check-up in the dental clinic. General self-efficacy, the OHRSE, social support (F-SozU-K14) and the OHRQoL (OHIP-G5) were assessed by specific validated questionnaires.

Blood immune profiling of Ethiopian patients with breast cancer highlights different forms of immune escape.

Breast cancer (BC) is a leading cause of death worldwide, particularly also among African woman. In order to better stratify patients for the most effective (immuno-) therapy, an in depth characterization of the immune status of BC patients is required. In this study, a cohort of 65 Ethiopian patients with primary BC underwent immune profiling by multicolor flow cytometry on peripheral blood samples collected prior to surgery and to any other therapy.

Dorsal cortex line is more reliable than transepicondylar axis for rotation in revision total knee arthroplasty with severe bone loss.

Aims: The transepicondylar axis is a well-established reference for the determination of femoral component rotation in total knee arthroplasty (TKA). However, when severe bone loss is present in the femoral condyles, rotational alignment can be more complicated. There is a lack of validated landmarks in the supracondylar region of the distal femur.

The association of different types of stress, and stress accumulation with low back pain in call-center workers - a cross-sectional observational study.

Background: Low back pain (LBP) is a common health complaint and a prominent factor in the development of LBP among the working population is stress. Mostly, stress is addressed as a general problem, which is why LBP prevention programs are often imprecise. Accordingly, a closer look at the association between specific stress types and the development of LBP is necessary.

Assessment of hemodynamic parameters by PiCCO and PAC in patients treated with the Impella CP.

In 28 patients supported by an Impella pump (Impella CP, Abiomed Inc., Danvers, MA), hemodynamic measurements by PiCCO (PULSION Medical Systems SE, Feldkirchen, Germany) and pulmonary artery catheter (PAC or Swan-Ganz Catheter; Edwards Lifescience, Unterschleissheim, Germany) were compared. There was a significant positive correlation of cardiac output (CO;  = 0.