A genetic register for inherited retinal degenerative disorders (RDDs) has been established at the Division of Human Genetics, UCT Medical School, Cape Town, South Africa. The primary role of the register is to monitor the progress of molecular research and to facilitate the efficient delivery of services, including genetic counselling, to respective family members and new patients. The database currently holds information on 1829 subjects. The RDD-specific breakdown of the data are presented.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1076/opge.23.1.61.2207 | DOI Listing |
BMC Anesthesiol
January 2025
Department of Anesthesiology, The Third People's Hospital of Bengbu, 38 Shengli Middle Road, Bengbu, 233000, China.
Background: The use of a fluid co-load has been shown to enhance hemodynamic stability and diminish the occurrence of hypotension after spinal anesthesia when paired with prophylactic norepinephrine. This research aimed to identify the effective dosages (ED and ED) of prophylactic norepinephrine boluses, in conjunction with a crystalloid co-load, for the prevention of hypotension after spinal anesthesia in cesarean delivery patients.
Methods: Patients were administered crystalloid co-loads at a dosage of 10 mL/kg, in addition to preventive norepinephrine dosages direct following spinal anesthesia administration.
Lancet Haematol
January 2025
Department of Medicine, McGill University, Montreal, QC, Canada.
Background: Despite the morbidity and mortality of venous thromboembolism, there is little evidence to guide postpartum thromboprophylaxis in patients at moderate risk. We aimed to assess the feasibility of conducting a double-blind, randomised trial of aspirin versus placebo in postpartum individuals with two or more venous thromboembolism risk factors, mild-to-moderate thrombophilia, or both.
Methods: The pilot PARTUM trial, a multi-national, randomised, double-blind, placebo-controlled trial, was conducted in seven centres across Canada, France, Ireland, and the Netherlands.
BMC Ophthalmol
January 2025
Izmir Biomedicine and Genome Center, 35340, Izmir, Türkiye.
Background: Aniridia is a rare panocular disease caused by gene mutation in the PAX6, which is essential for eye development. Aniridia is inherited in an autosomal dominant manner, but its phenotype can vary significantly among individuals with the same mutation. Animal models, such as drosophila, zebrafish, and rodents, have been used to study aniridia through Pax6 deletions.
View Article and Find Full Text PDFJ Clin Med
December 2024
Faculty of Medicine, University of Novi Sad, 21000 Novi Sad, Serbia.
: This systematic review evaluates the effectiveness of various hematological treatment protocols and local hemostatic measures in preventing oral bleeding and other complications during and after dental treatments in children with inherited bleeding disorders and inhibitors. : This study was registered in the PROSPERO database. The comprehensive search strategy for this systematic review was conducted across five databases, namely, PubMed, Google Scholar, Web of Science, Scopus, and Cochrane Library.
View Article and Find Full Text PDFJ Inherit Metab Dis
January 2025
Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Center+, Maastricht, The Netherlands.
Hereditary fructose intolerance (HFI) is characterized by liver damage and a secondary defect in N-linked glycosylation due to impairment of mannose phosphate isomerase (MPI). Mannose treatment has been shown to be an effective treatment in a primary defect in MPI (i.e.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!