Hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) have significant phenotypic overlap and a similar genetic background, both caused mainly by variants in sarcomeric genes. HCM is the most common cardiomyopathy, while RCM is a rare and often underdiagnosed heart condition, with a poor prognosis. This study focuses on a large family with four infants diagnosed with fatal RCM associated with biventricular hypertrophy.
View Article and Find Full Text PDFThis article describes a dataset of community perspectives on living conditions and disaster risk management in Khan Road, a non-serviced informal settlement, located in Pietermaritzburg, the capital of KwaZulu-Natal province in South Africa. The data were collected by local community researchers via a structured questionnaire of 159 informal dwellers conducted between August and September 2022, using mobile phones via KoboToolbox. The dataset was analysed using exploratory data analysis (EDA) techniques.
View Article and Find Full Text PDFMethionine adenosyltransferase 2A (MAT2A) has been indicated as a drug target for oncology indications. Clinical trials with MAT2A inhibitors are currently on-going. Here, a structure-based virtual screening campaign was performed on the commercially available chemical space which yielded two novel MAT2A-inhibitor chemical series.
View Article and Find Full Text PDFJ Endovasc Ther
June 2023
Purpose: To investigate whether Doppler ultrasound (DUS) blood flow parameters could serve as quantifiable functional endpoints of peripheral endovascular arterial procedures for chronic limb-threatening ischemia (CLTI), influencing wound healing.
Methods: This is a prospective single-center study investigating intraprocedural DUS parameters (pulsatility index [PI] and pedal acceleration time [PAT]) in quantifying immediate hemodynamic alterations in consecutive CLTI patients with wound, ischemia, and foot infection wound class ≥1 undergoing endovascular interventions. Primary endpoints were feasibility of preendovascular and postendovascular treatment measurements of PI/PAT, quantification of immediate PI/PAT modifications of the posterior and anterior foot circulation following revascularization, the correlation between PI and PAT, and 6-month complete wound healing.
Background: Since child abuse and neglect (CAN) is prevalent worldwide, medical students should acquire basic knowledge, skills, and confidence in identifying and addressing CAN. Although significant educational efforts have been previously described, none has focused on using participatory methods to teach medical students CAN.
Purpose: To: 1) develop a participatory educational workshop in CAN for medical students, 2) gather, train, and establish a peer-to-peer teaching group, and 3) assess the effectiveness of the workshop in gain of knowledge and improvement of self-confidence for participants.