Pareto-principle in rare disease education: assessing the representation of common rare diseases in medical education and coding systems.

Background: The Pareto Principle asserts that a large portion of results can be achieved with a small amount of effort. Wakap et al. found that around 80% of individuals with rare diseases (RD) suffer from one of 149 specific rare diseases.

Exploring patient-centered design solutions of a telehealth app for HIV - A qualitative study.

Background: The Communication and Tracing App HIV (COMTRAC-HIV) project is developing a mobile health (mHealth) app for integrated care of HIV patients in Germany. The complexity of HIV treatment and continuous care necessitates the need for tailored mHealth solutions. This qualitative study explores design solutions and a prototype to enhance the app's functionality and effectiveness.

Editing Physicians' Responses Using GPT-4 for Academic Research.

Unlabelled: The integration of Artificial Intelligence (AI) into digital healthcare, particularly in the anonymisation and processing of health information, holds considerable potential.

Objectives: To develop a methodology using Generative Pre-trained Transformer (GPT) models to preserve the essence of medical advice in doctors' responses, while editing them for use in scientific studies.

Methods: German and English responses from EXABO, a rare respiratory disease platform, were processed using iterative refinement and other prompt engineering techniques, with a focus on removing identifiable and irrelevant content.

Initial User-Centred Design of an AI-Based Clinical Decision Support System for Primary Care.

A clinical decision support system based on different methods of artificial intelligence (AI) can support the diagnosis of patients with unclear diseases by providing tentative diagnoses as well as proposals for further steps. In a user-centred-design process, we aim to find out how general practitioners envision the user interface of an AI-based clinical decision support system for primary care. A first user-interface prototype was developed using the task model based on user requirements from preliminary work.

Translation of Ontological Concepts from English into German Using Commercial Translation Software and Expert Evaluation.

Medical ontologies are mostly available in English. This presents a language barrier that is a limitation in research and automated processing of patient data. The manual translation of ontologies is complex and time-consuming.

Enhancing HIV Patient Support Through Telehealth: Exploring Design Solutions.

In recent years, telemedicine has advanced significantly, offering new possibilities for improving healthcare and patient outcomes. This paper presents a telemedicine app for HIV patients, developed using a human-centered design approach. Designed to meet the diverse and specific needs of Pre-Exposure Prophylaxis (PrEP) users and Late Presenters (LP), the app is part of the COMTRAC-HIV Project at the University Hospital Frankfurt.

Machine translation of standardised medical terminology using natural language processing: A scoping review.

Standardised medical terminologies are used to ensure accurate and consistent communication of information and to facilitate data exchange. Currently, many terminologies are only available in English, which hinders international research and automated processing of medical data. Natural language processing (NLP) and Machine Translation (MT) methods can be used to automatically translate these terms.

Interviews with HIV Experts for Development of a Mobile Health Application in HIV Care-A Qualitative Study.

The Communication and Tracing App HIV (COMTRAC-HIV) project aims to develop a mobile health application for integrated care of HIV patients due to the low availability of those apps in Germany. This study addressed organizational conditions and necessary app functionalities, especially for the care of late diagnosed individuals (late presenters) and those using pre-exposure prophylaxis. We followed a human-centered design approach and interviewed HIV experts in Germany to describe the context of use of the app.

Methods Used in the Development of Common Data Models for Health Data: Scoping Review.

Background: Common data models (CDMs) are essential tools for data harmonization, which can lead to significant improvements in the health domain. CDMs unite data from disparate sources and ease collaborations across institutions, resulting in the generation of large standardized data repositories across different entities. An overview of existing CDMs and methods used to develop these data sets may assist in the development process of future models for the health domain, such as for decision support systems.

Diagnosis Support for Rare Diseases Using Phenotypic Profiles.

The common occurrence of characteristic symptoms can be used to infer diagnoses. The aim of this study is to show how syndrome similarity analysis using given phenotypic profiles can help in the diagnosis of rare diseases. HPO was used to map syndromes and phenotypic profiles.

Conception, Development and Validation of Classification Methods for Coding Support of Rare Diseases Using Artificial Intelligence.

Automated coding of diseases can support hospitals in the billing of inpatient cases with the health insurance funds. This paper describes the implementation and evaluation of classification methods for two selected Rare Diseases. Different classifiers of an off-the-shelf system and an own application are applied in a supervised learning process and comparatively examined for their suitability and reliability.

Challenges of introducing new biomarker products for neuropsychiatric disorders into the market.

There are many challenges associated with the discovery and development of serum-based biomarkers for psychiatric disorders such as schizophrenia. Here, we review these challenges from the point of view of psychiatrists, general practitioners, the regulatory agencies, and biomarker scientists. There is a general opinion in psychiatric medicine that improvements over the current subjective tests are essential.

Kraepelin's 'lost biological psychiatry'? Autointoxication, organotherapy and surgery for dementia praecox.

Kraepelin believed that a chronic metabolic autointoxication, perhaps arising from the sex glands, eventually caused chemical damage to the brain and led to the symptoms of dementia praecox. The evolution of Kraepelin's autointoxication theory of dementia praecox is traced through the 5th to 8th (1895 to 1913) editions of his textbook, Psychiatrie. The historical context of autointoxication theory in medicine is explored in depth to enable the understanding of Kraepelin's aetiological assumption and his application of a rational treatment based on it--organotherapy.

The blood of the insane.

The history of serological investigations of the blood of the insane is traced from the initial such study in 1854 by a solitary Scottish asylum physician, who counted the blood cells of his lunatic patients under a weak microscope, to the January 2005 announcement by an international team of geneticists of the development of a genomic blood test that can differentially diagnose schizophrenia and bipolar disorder. The story of the first claim of the development of a blood test for madness in 1912--the Abderhalden defensive ferments reaction test--is related in detail. Studies of the blood of the insane have followed four general methodological paradigms: the corpuscular richness paradigm (1854); the metabolic paradigm (c.

Infectious insanities, surgical solutions: Bayard Taylor Holmes, dementia praecox and laboratory science in early 20th-century America. Part 2.

Part I of this article on Bayard Taylor Holmes (1852-1924), a Chicago physician and surgeon, detailed his laboratory research on dementia praecox and his presumed discovery in 1915 of evidence in support of a focal infection theory of its aetiology. In May 1916 he began to experiment with a rational therapy based on this theory: abdominal surgery and daily irrigations of the colon. He operated first on his own son, who had been afflicted with dementia praecox since 1905, but he died four days later.

Infectious insanities, surgical solutions: Bayard Taylor Holmes, dementia praecox and laboratory science in early 20th-century America. Part 1.

After his 17-year-old son suddenly developed a chronic psychotic illness in 1905, Bayard Taylor Holmes (1852-1924), a Chicago physician and surgeon with no psychiatric training, conducted both library and laboratory research on dementia praecox, as described in Part 1 of this two-part study. By late 1915 he believed he had found support for a focal infection theory of its aetiology--an ergot-like toxaemia caused by faecal stasis in the caecum. Holmes was also the editor of what is believed to be the first medical journal named after a psychiatric disorder: Dementia Praecox Studies.

Historical review: Autointoxication and focal infection theories of dementia praecox.

The popularity of theories of autointoxication and focal infection in general medicine and dentistry in the late nineteenth and early twentieth centuries led Emil Kraepelin and others to speculate that dementia praecox was caused by a poisoning of the brain from toxins produced in other parts of the body, notably the sex glands, the intestines and the mouth. Emil Kraepelin's commitment to the autointoxication theory is ignored in the literature on the history of psychiatry due to the focus of historians and clinicians on the major contributions of Kraepelin's methods of clinical psychopathology. Besides heredity, autointoxication and focal infection were the other most dominant theories of the organic aetiology of dementia praecox in the first three decades of its existence as a nosological entity in psychiatry.