Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome.

Split-hand/foot malformation syndrome (SHFM) is a congenital limb malformation that is both clinically and genetically heterogeneous. Variants in WNT10B are known to cause an autosomal recessive form of SHFM. Here, we report a patient born to unrelated parents who was found to be a compound heterozygote for missense variants in WNT10B: c.

Strategies for introducing and implementing vaccines for adults into national immunization programs in Europe: Good practices and key insights of the adult immunization board meeting.

In April 2024, the Adult Immunization Board convened a technical meeting to explore the latest strategies and identify exemplary approaches regarding the implementation of vaccines for adults into Europe's National Immunization Programs (NIPs). The meeting was built around three pillars: decision making for introducing a new vaccine, implementation, monitoring, and evaluation. The increasing number of new vaccines available in a context of competing health priorities warrants transparent and evidence-based decision-making processes for vaccine introduction.

Spatial analysis and risk mapping of Crimean-Congo hemorrhagic fever (CCHF) in Sub-saharan Africa.

Crimean Congo hemorrhagic fever (CCHF) is a re-emerging tick-borne zoonosis that is caused by CCHF virus (CCHFV). The geographical distribution of the disease and factors that influence its occurrence are poorly known. We analysed historical records on its outbreaks in various countries across the sub-Saharan Africa (SSA) to identify hotspots and determine socioecological and demographicfactors associated with these outbreaks.

Acid sphingomyelinase activity suggests a new antipsychotic pharmaco-treatment strategy for schizophrenia.

Schizophrenia is a chronic and severe mental disorder. It is currently treated with antipsychotic drugs (APD). However, APD's work only in a limited number of patients and may have cognition impairing side effects.

Discordance, accuracy and reproducibility study of pathologists' diagnosis of melanoma and melanocytic tumors.

Accurate melanoma diagnosis is crucial for patient outcomes and reliability of AI diagnostic tools. We assess interrater variability among eight expert pathologists reviewing histopathological images and clinical metadata of 792 melanoma-suspicious lesions prospectively collected at eight German hospitals. Moreover, we provide access to the largest panel-validated dataset featuring dermoscopic and histopathological images with metadata.

Rationale and Design of the HERZCHECK trial: Detection of Early Heart Failure Using Telemedicine and CMR in Structurally Weak Regions (NCT05122793).

Background And Aims: Heart failure (HF) is an imminent global health problem. Yet established screening algorithms for asymptomatic pre-HF, allowing for early and effective preventive interventions, are largely lacking. The HERZCHECK trial, conducted in structurally underserved rural regions of North-Eastern Germany, aims to close this gap by evaluating the feasibility, diagnostic efficacy, and cost-effectiveness of a fully mobile, telemedically-supervised screening approach, combining cardiac magnetic resonance imaging (CMR) and laboratory testing as central elements.

Outcomes after medical treatment for primary aldosteronism: an international consensus and analysis of treatment response in an international cohort.

Background: Primary aldosteronism can be treated medically but there is no standardised method to evaluate treatment outcomes. We aimed to develop criteria for assessing the outcomes of targeted medical treatment of primary aldosteronism, analyse outcomes across an international cohort, and identify factors associated with a complete treatment response.

Methods: An international panel of 31 primary aldosteronism experts used the Delphi method to reach consensus on the definition of complete, partial, or absent biochemical and clinical outcomes of medical treatment of primary aldosteronism.

Progression of chronic kidney disease after non-cardiac surgery: A retrospective cohort study.

Background: Chronic-kidney-disease (CKD) is prevalent among adults undergoing noncardiac surgery, with surgery-related factors potentially worsening CKD or triggering acute kidney injury (AKI). We hypothesized that CKD patients experience more kidney function decline within one to two years post-surgery than those without CKD, particularly if they develop AKI.

Methods: We conducted a single-center retrospective cohort study, including noncardiac surgery patients with documented creatinine preoperative and between 1 and 2 years after surgery.

Participation interest and completion of home blood pressure measurements with mailed devices in adults with and without hypertension.

Objectives: Home blood pressure monitoring (HBPM) is valuable for the detection and monitoring of hypertension. Despite logistical advantages, HBPM has not yet been used in national blood pressure (BP) surveys. We investigated randomly selected adults' willingness to participate in an HBPM study (attitude survey) and piloted this approach (feasibility study).

Cardiopulmonary exercise testing as a prognosis-assessing tool in heart failure with preserved ejection fraction.

Aims: Patients with heart failure with preserved ejection fraction represent half of the heart failure patients nowadays, an at least steady trend due to the aging of the population. We investigated whether the parameters obtained from cardiopulmonary exercise testing (CPET) correlated with the prognosis of these patients. This prospective observational cohort study assesses the relationship between the CPET parameters peakVO and VE/VCO slope and the number of heart failure hospitalizations or cardiovascular death of these patients.

German evidence- and consensus-based guideline on the management of penile urethritis.

Urethritis is a common condition predominantly caused by sexually transmitted pathogens such as Chlamydia trachomatis, Neisseria gonorrhoeae, and Mycoplasma genitalium. It is not possible to differentiate with certainty between pathogens on the basis of clinical characteristics alone. However, empirical antibiotic therapy is often initiated in clinical practice.

Pre-chewing of infant food - expectations towards an old, traditional feeding habit for potential allergy prevention.

Premastication is a traditional feeding method whereby solids are pre-chewed by the mother or sometimes by other relatives and then given to the infant along with the oral microbiota. The aim of this study was to assess if premastication is known or performed among the German population as well as to evaluate the expectations regarding this feeding method, particularly in the context of allergy prevention. Two surveys about premastication were conducted.

[Mechanisms of action of antidepressive pharmacotherapy: brain and mind-body and environment].

Background: Novel antidepressive substances are challenging the explanations for the mechanisms of action of traditional psychopharmacology.

Objective: What could be the shared effects of various antidepressants and in this context what role do extrapharmacological factors, such as the body and environment, play?

Material And Method: The available literature on clinical and preclinical data for assumed combined active factors of serotonergic psychedelic drugs, (es)ketamine, monoaminergic antidepressants and zuranolone are presented and the influence of context factors on the individual mechanisms of action is discussed.

Results: There are many indications that classical and novel pharmacological approaches could share similar mechanisms of action in the treatment of depression.

Surveillance of Clostridioides difficile on hospital admission and outpatient antibiotic use in Germany-a 9 year ecological analysis.

Background: Antibiotic consumption is considered an important risk factor for Clostridioides difficile infection (CDI). This ecological analysis investigates the influence of outpatient antibiotic prescriptions in statutory health insurance (SHI) on the admission prevalence of CDI in German hospitals participating in voluntary CDI surveillance through the hospital infection surveillance system (Krankenhaus-Infektions-Surveillance-System; KISS).

Methods: The annual CDI admission prevalence of a hospital at the federal state level was associated with the outpatient antibiotic consumption of the corresponding federal state.

N-methyl-d-aspartate receptor hypofunction causes recurrent and transient failures of perceptual inference.

Perception integrates external sensory signals with internal predictions that reflect prior knowledge about the world. Previous research suggests that this integration is governed by slow alternations between an external mode, driven by sensory signals, and an internal mode, shaped by prior knowledge. Using a double-blind, placebo-controlled, cross-over experiment in healthy human participants, we investigated the effects of the N-Methyl-D-aspartate receptor (NMDAR) antagonist S-ketamine on the balance between external and internal modes.

Biomechanics of flail chest injuries: tidal volume and respiratory work changes in multiple segmental rib fractures.

Background: Flail chest (FC) injuries are segmental osseous injuries of the thorax that typically result from high-energy blunt trauma and regularly occur in multiple trauma (MT) patients. FC injuries are associated with paradoxical chest wall movements and, thus, have a high risk of respiratory insufficiency or even death. An increasing number of studies recommend an early surgical stabilization of FC injuries, but a definite trigger that would indicate surgery has, thus far, not been identified.

Endovascular management of haemorrhage and vascular lesions in patients with multiple and/or severe injuries: a systematic review and clinical practice guideline update.

Purpose: Our aim was to update evidence-based and consensus-based recommendations for the inhospital endovascular management of haemorrhage and vascular lesions in patients with multiple and/or severe injuries based on current evidence. This guideline topic is part of the 2022 update of the German Guideline on the Treatment of Patients with Multiple and/or Severe Injuries.

Methods: MEDLINE and Embase were systematically searched to June 2021.

Rabies knowledge and prevention practices in Gombe state, Nigeria: a community-based comparative cross-sectional study of rabies hotspot and non-hotspot areas.

Background: Rabies remains a significant public health concern in Nigeria, particularly in rural areas with limited awareness and resources. Gombe State is recognized as a rabies hotspot, facing challenges in controlling the spread of the disease. This study aimed to assess and compare the knowledge and prevention practices related to rabies among community members in hotspot and non-hotspot areas of Gombe State.

Timing of risk factors, prodromal features, and comorbidities of dementia from a large health claims case-control study.

Background: Many risk factors for dementia have been identified, but the timing of risk is less well understood. Here, we analyzed risk factors in a case-control study covering 10 years before an incident dementia diagnosis.

Methods: We designed a case-control study using insurance claims of outpatient consultations of patients with German statutory health insurance between January 1, 2012, and December 31, 2022.

Instruments for Evaluating Undergraduate Medical Education in Complementary and Integrative Medicine: A Systematic Review.

The provision of courses in complementary and integrative medicine (CIM) varies widely between medical schools. To effectively improve CIM education, it is essential to use robust evaluation instruments that measure the impact of different educational interventions. This review aimed to identify and critically appraise qualitative and quantitative instruments used to evaluate CIM courses in undergraduate medical education.

Finerenone and new-onset diabetes in heart failure: a prespecified analysis of the FINEARTS-HF trial.

Background: Data on the effect of mineralocorticoid receptor antagonist therapy on HbA levels and new-onset diabetes are conflicting. We aimed to examine the effect of oral finerenone, compared with placebo, on incident diabetes in the Finerenone Trial to Investigate Efficacy and Safety Superior to Placebo in Patients with Heart Failure (FINEARTS-HF) trial.

Methods: In this randomised, double-blind, placebo-controlled trial, 6001 participants with heart failure with New York Heart Association functional class II-IV, left ventricular ejection fraction 40% or higher, evidence of structural heart disease, and elevated N-terminal pro-B-type natriuretic peptide levels were randomly assigned to finerenone or placebo, administered orally.