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Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis.
View Article and Find Full Text PDFDNA mismatch repair (MMR) genes expression in lung cancer and its correlation with different clinicopathologic parameters.
Sci Rep
January 2025
Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Lung cancer (LC) is a crucial rapidly developing disease. In Egypt, it is one of the five most frequent cancers. Little is known about the impact of deleted mismatch repair genes and its correlation to clinicopathological characteristics.
View Article and Find Full Text PDFSevere Cardiopulmonary Complications and Stroke in a Patient With HIV and Chronic Substance Abuse: A Case Report.
Cureus
December 2024
Cardiology, Lower Bucks Hospital, Bristol, USA.
This case report presents a 37-year-old male with a complex medical history, including HIV, chronic methamphetamine and cocaine use, and an atrial septal defect, who developed severe pulmonary arterial hypertension (PAH), biventricular failure, and recurrent stroke. The patient was admitted with acute neurological deficits and respiratory failure, which rapidly progressed despite intensive management. Laboratory and imaging studies revealed severe cardiac dysfunction and elevated pulmonary vascular resistance.
View Article and Find Full Text PDFEarly circulating biomarkers to predict plasma leakage in dengue fever.
J Infect
January 2025
School of Biomedical Sciences, Faculty of Medicine, UNSW Sydney, NSW, 2052, Australia; Viral Immunology Systems Program, Kirby Institute, UNSW Sydney, NSW, 2052, Australia. Electronic address:
Background: Dengue, a mosquito-borne viral infection, poses a rapidly growing burden, particularly in low- and middle-income countries. Without early identification of patients at risk of severe outcomes (dengue haemorrhagic fever, severe dengue, and plasma leakage- the latter typically occurring on days 5-7 of illness), untriaged admissions lead to hospital overcrowding and suboptimal care.
Methods: This nested case-control study compared early-stage plasma samples (within the first 96hours of fever) from dengue patients with and without plasma leakage.
Management challenges of postpartum rhinocerebral mucormycosis following spontaneous vaginal delivery in a resource-constraint setting: A case report and review of literature.
Int J Surg Case Rep
January 2025
Department of Obstetrics and Gynecology, Kilimanjaro Christian Medical Centre, Moshi, Tanzania; Faculty of Medicine, Kilimanjaro Christian Medical University College, Moshi, Tanzania.
Introduction And Importance: Rhinocerebral mucormycosis (RM) is a rare and severe condition caused by filamentous fungi, characterized by infection of the nose, paranasal sinuses, and brain. It is the most common and fatal clinical form of mucormycosis, accounting for 50 % of reported cases. RM is seldom reported during the postpartum period.
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