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Precise template-free correction restores gene function in Tay-Sachs disease while reframing is ineffective.
Mol Ther Nucleic Acids
March 2025
Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G0A4, Canada.
Tay-Sachs disease is a fatal neurodegenerative disorder caused by mutations inactivating the metabolic enzyme HexA. The most common mutation is c.1278insTATC, a tandem 4-bp duplication disrupting expression by frameshift.
View Article and Find Full Text PDFManagement 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.
View Article and Find Full Text PDFRare vascular complications in classical Ehlers-Danlos syndromes.
BMJ Case Rep
January 2025
Medical Department, Lyell McEwin Hospital, Elizabeth Vale, South Australia, Australia.
Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders associated with skin, ligament, blood vessel and organ abnormalities. Skin hyperextensibility, joint hypermobility and widened atrophic scars are characteristic of classical EDS. Vascular complications, though rare in classical EDS, can be life-threatening, and this necessitates one to look for vascular associations in non-vascular, such as classical, forms of EDS due to the heterogeneity of the syndrome.
View Article and Find Full Text PDFA Case of Problem-Free Survival Five Years After Abdominal Aortic Sigmoid Colon Fistula Surgery.
Cureus
December 2024
Cardiovascular Surgery, Sapporo Medical University, Sapporo, JPN.
An a (AEF) is a rare but life-threatening condition where an abnormal connection forms between the aorta and the gastrointestinal tract, most commonly the duodenum. It can be primary (arising spontaneously due to an aortic aneurysm or infection) or secondary (complicating prior vascular surgery). Immediate recognition and surgical intervention are critical to manage severe gastrointestinal bleeding and prevent fatal outcomes.
View Article and Find Full Text PDFSecond trimester medical abortion in acute promyelocytic leukaemia.
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December 2024
Haematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Acute promyelocytic leukaemia (APL) is a highly lethal haematological malignancy. It is rare in pregnancy and may be fatal if not managed promptly and appropriately. A woman in her 20s presented with high-grade fever at 16 weeks of her third pregnancy.
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