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What can we learn from pathophysiology and therapeutic targetable pathways from all genetic causes and associations in PH?
Int J Cardiol Congenit Heart Dis
September 2024
VPD Heart and Lung Research Institute, University of Cambridge, United Kingdom.
Pulmonary hypertension (PH) encompasses a group of conditions which ultimately lead to elevated pulmonary arterial pressure. PH is classified into five subgroups, of which Group 1 pulmonary arterial hypertension (PAH), is the most extensively studied. Numerous causal genes have been identified in PAH, most notably germline mutations in bone morphogenetic protein receptor type 2 () and the wider BMP pathway.
View Article and Find Full Text PDFUpdate Motility Disorders: Gastro-Oesophageal Reflux Disease - Diagnostic and Conservative Approach.
Visc Med
December 2024
Digestive Function: Basel, Laboratory and Clinic for Motility Disorders and Functional Digestive Diseases, Centre for Integrative Gastroenterology, Klinik Arlesheim, Arlesheim, Switzerland.
Background: Gastro-oesophageal reflux disease (GORD) is extremely common, with at least 1 in 10 people in the general population reporting heartburn and acid regurgitation on a weekly basis. GORD can also be associated with a variety of atypical symptoms, including chest pain, chronic cough, and laryngopharyngeal symptoms. The causes of GORD are multifactorial, and the severity of symptoms is influenced by peripheral and central factors, including psychosocial stress and anxiety.
View Article and Find Full Text PDFOntology-based integration and querying of heterogeneous rare disease data sources - POLVAS perspective.
Comput Biol Med
December 2024
2nd Department of Internal Medicine, Jagiellonian University Medical College, ul. Jakubowskiego 2, 30-688 Kraków, Poland. Electronic address:
The integration of rare disease medical databases belonging to different countries is an important problem, as a large number of observations are required for reliable statistical inference of patient data in order to facilitate clinical research. Such integration of national registry data, which requires harmonization of the heterogeneous data sets into a unified view, is facilitated in the European FAIRVASC project by developing a domain-specific ontology. The FAIRVASC project is dedicated to the rare disease of anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis (AAV).
View Article and Find Full Text PDFFatal bear attack in Russian Federation: A case report.
Leg Med (Tokyo)
November 2024
Department of Forensic Medicine, I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation. Electronic address:
Human-bear conflicts are a growing concern globally, with Russia harboring a significant population of brown bears. This case report details a fatal encounter between a male hunter and a brown bear in the greater Khabarovsk region. On October 2015, the hunter's body was discovered approximately 400 m from a deceased brown bear, indicating a deadly confrontation.
View Article and Find Full Text PDFAvoiding missed opportunities in AI for radiology.
Int J Comput Assist Radiol Surg
December 2024
Department of Radiology, Staten Island University Hospital - Northwell Health, 475 Seaview Avenue, Staten Island, NY, 10305, USA.
Purpose: In the last decade, the development of Deep Learning and its variants, based on the application of artificial neural networks, has reinvigorated Artificial Intelligence (AI). As a result, many new applications of AI in medicine, especially Radiology, have been introduced. This resurgence in AI, and its diverse clinical and nonclinical applications throughout healthcare, requires a thorough understanding to reap the potential benefits and avoid the potential pitfalls.
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