A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.

The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments. There has been a great need for a collection of phenopackets to test software pipelines and algorithms.

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English.

Deep learning to predict breast cancer sentinel lymph node status on INSEMA histological images.

Background: Sentinel lymph node (SLN) status is a clinically important prognostic biomarker in breast cancer and is used to guide therapy, especially for hormone receptor-positive, HER2-negative cases. However, invasive lymph node staging is increasingly omitted before therapy, and studies such as the randomised Intergroup Sentinel Mamma (INSEMA) trial address the potential for further de-escalation of axillary surgery. Therefore, it would be helpful to accurately predict the pretherapeutic sentinel status using medical images.

Teaching medicine web-based with the help of interactive audience response systems.

The COVID-19 pandemic confronted the medical community worldwide with numerous challenges, not only with respect to medical care, but also for teaching the next generation of physicians. To minimize the risk of infections patient-unrelated classes can be held digitally. Here we present a student initiated, web-based teaching approach, called "From symptom to diagnosis".

The LDL Apolipoprotein B-to-LDL Cholesterol Ratio: Association with Cardiovascular Mortality and a Biomarker of Small, Dense LDLs.

Background and Objective: Small, dense low-density lipoproteins (LDLs) are considered more atherogenic than normal size LDLs. However, the measurement of small, dense LDLs requires sophisticated laboratory methods, such as ultracentrifugation, gradient gel electrophoresis, or nuclear magnetic resonance. We aimed to analyze whether the LDL apolipoprotein B (LDLapoB)-to-LDL cholesterol (LDLC) ratio is associated with cardiovascular mortality and whether this ratio represents a biomarker for small, dense LDLs.

Safety of Triage Self-assessment Using a Symptom Assessment App for Walk-in Patients in the Emergency Care Setting: Observational Prospective Cross-sectional Study.

Background: Increasing use of emergency departments (EDs) by patients with low urgency, combined with limited availability of medical staff, results in extended waiting times and delayed care. Technological approaches could possibly increase efficiency by providing urgency advice and symptom assessments.

Objective: The purpose of this study is to evaluate the safety of urgency advice provided by a symptom assessment app, Ada, in an ED.

Students' learning behavior in digital education for radiation oncology.

Purpose: Digitalization of medical education is an important trend in terms of reforming and modernizing the global education environment. It has been long requested by students and politicians. The goal of this study was to assess the student perception of a newly developed digital educational program in radiation oncology (RO) using an interactive e‑book combined with short learnings clips on a YouTube channel combined with periodic videoconferences and a forum for queries.

Frequently assessed and used prognostic factors for outcome after macular hole surgery: which is better?

Background: The aim of this retrospective study was to evaluate commonly used clinical and OCT-morphological parameters, including perifoveal pseudocysts, as prognostic factors for postoperative outcome after macular hole surgery in a retinal referral clinic in North Rhine-Westphalia, Germany.

Methods And Material: This was a retrospective analysis of all patients who underwent surgery because of idiopathic MH between 2011 and 2017 in Augenklinik Tausendfensterhaus, Duisburg, Germany. Statistical evaluation of clinical and OCT-based parameters, including the areas of intraretinal pseudocysts, was conducted.

Extracorporeal life support in patients with acute myocardial infarction complicated by cardiogenic shock - Design and rationale of the ECLS-SHOCK trial.

Background: In acute myocardial infarction complicated by cardiogenic shock the use of mechanical circulatory support devices remains controversial and data from randomized clinical trials are very limited. Extracorporeal life support (ECLS) - venoarterial extracorporeal membrane oxygenation - provides the strongest hemodynamic support in addition to oxygenation. However, despite increasing use it has not yet been properly investigated in randomized trials.

Health Care Use and Costs in Individuals With Diabetes With and Without Comorbid Depression in Germany: Results of the Cross-sectional DiaDec Study.

Objective: Increased health care use and costs have been reported in individuals with diabetes with comorbid depression. Knowledge regarding cost differences between individuals with diabetes alone and those with diabetes and diagnosed/undiagnosed depression is, however, scarce. We therefore compared use and costs for patients with diabetes and no depression and patients with diabetes and documented depression diagnosis or self-reported depression symptoms for several cost components, including mental health care costs.

Patient-specific instruments' routine use over conventional total knee arthroplasty remains inconclusive: Analysis of 961 cases.

Background: An increasing demand for total knee arthroplasty (TKA) has pushed innovations in the industry and created a promising new technique called patient specific instruments (PSI). Early reports had promising results such as reducing operative time, cost, and improved alignment. More recent reports are conflicting.

Teaching medicine with the help of "Dr. House".

TV series such as "House MD", "Grey´s Anatomy" or "Emergency Room" are well perceived by medical students. Seminars featuring medical TV series such as "House MD" might serve as door-opener to attract medical students to learn more about rare diseases. The TV series "House MD" is troublesome for the main character Dr.

Characteristics of patients contacting a center for undiagnosed and rare diseases.

Background: Little is known about the characteristics of patients seeking help from dedicated centers for undiagnosed and rare diseases. However, information about their demographics, symptoms, prior diagnoses and medical specialty is crucial to optimize these centers' processes and infrastructure.

Methods: Using a questionnaire, structured information from 522 adult patients contacting a center for undiagnosed and rare diseases was obtained.

Plasmodium falciparum Hop (PfHop) Interacts with the Hsp70 Chaperone in a Nucleotide-Dependent Fashion and Exhibits Ligand Selectivity.

Heat shock proteins (Hsps) play an important role in the development and pathogenicity of malaria parasites. One of the most prominent functions of Hsps is to facilitate the folding of other proteins. Hsps are thought to play a crucial role when malaria parasites invade their host cells and during their subsequent development in hepatocytes and red blood cells.

Autoimmune bullous skin diseases. Part 2: diagnosis and therapy.

Autoimmune bullous skin diseases represent a heterogenous group of disorders of skin and mucosa which are commonly associated with IgG or IgA autoantibodies against distinct adhesion molecules of the skin. The antibodyinduced loss of adhesion between epidermis and dermis results in blister formation and extensive erosions. There is a great need for rapidly establishing the diagnosis of these disorders since they may run a severe and potentially life-threatening course.

Autoimmune bullous skin diseases. Part 1: Clinical manifestations.

Autoimmune bullous skin diseases are characterized by autoantibodies against adhesion molecules of the skin. Pemphigus is a disorder with an intraepidermal loss of adhesion and is characterized by fragile blisters and erosions. Pemphigus vulgaris often shows extensive lesions of the oral mucosa, while pemphigus foliaceus is commonly restricted to cutaneous involvement with puff pastry-like scale formation.

Modification of virtual reality combined with a mental task stimulates cortisol in volunteers.

Immersive, stereoscopic virtual reality (VR) systems provide a powerful multimedia tool for a laboratory simulation of distinct scenarios including stressful situations close to reality. Thus far, cortisol secretion as a neuroendocrine parameter of stress has not been evaluated within a VR paradigm. Ninety-four healthy subjects were subjected to a VR paradigm and a cognitive stress task.

The in-vivo effect of sodium-potassium citrate on the crystal growth rate of calcium oxalate and other parameters in human urine.

In this study, an efficient microtechnique (gel crystallization method) was used to investigate the in-vivo effect of sodium-potassium citrate on the crystal growth rate of calcium oxalate (Vcr) in human urine samples of 6 healthy volunteers. With a daily dose of 3 X 11 mmol of alkali citrate, Vcr decreased by 70%. This could have been due to the decrease of calcium excretion, which caused 50-60% of the total change, and to the increase of citrate and pH, each contributing about 20-25% to the decline of Vcr.