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Dorsal Intradural Extramedullary Bronchogenic Cysts: A Case Report and Comprehensive Literature Review.
Cureus
December 2024
Neurological Surgery, High Specialty Regional Hospital Bajio, León, MEX.
Intradural extramedullary bronchogenic cysts (IEBCs) are exceedingly rare congenital entities, composed of respiratory epithelial cells derived from the anomalous development of the embryonic foregut. Due to their exceptionally low morbidity, only limited cases are available. Consequently, the clinical features and optimal therapeutic approach remain poorly understood.
View Article and Find Full Text PDFDetailed analysis of cystic lesions in patients after open fetal repair and postnatal myelomeningocele closure.
Childs Nerv Syst
January 2025
Division of Neurosurgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Purpose: We sought to evaluate the incidence, natural history, and management of cystic spinal lesions following myelomeningocele/myeloschisis closure.
Methods: We performed a single-center retrospective review of all patients who underwent myelomeningocele/myeloschisis closure from 2013 to 2018 with follow-up to 5 years old.
Results: We analyzed 100 fetal repairs and 81 postnatal closures from 305 total surgeries.
Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners.
Aust J Gen Pract
December 2024
PhD, GDipGenetCouns, Honorary Principal Fellow, Department of Paediatrics, University of Melbourne, Melbourne, Vic; Associate Professor, Head of Service Development, Reproductive Genetics and Group Leader @ Reproductive Genetic Counselling, Victorian Clinical Genetics Services, Murdoch Children@s Research Institute, Melbourne, Vic
Background And Objectives: The Royal Australian College of General Practice recommends that all women contemplating pregnancy or in early pregnancy should be offered reproductive genetic carrier screening (RGCS). In November 2023, a new Medicare item number was introduced for RGCS to detect cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS) carrier status. The role of general practice in offering RGCS is recognised as being of crucial importance, but only a minority of general practitioners (GPs) are offering such screening.
View Article and Find Full Text PDFGenetic study on candidates for oocyte donation.
JBRA Assist Reprod
December 2024
Genetics Unit, Department of Pathology, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319, Porto, Portugal.
Objective: There is a rising demand for assisted reproductive medicine, including sperm, oocyte and embryo donation. Besides medical and legal considerations, genetic testing, including carrier screening for multiple autosomal and X-linked recessive disorders plays an essential role in evaluating hereditary risk among donors and therefore exclude them from the donation process.
Methods: A retrospective study was conducted on oocyte donors from a private clinic of assisted reproduction who underwent genetic testing between June 2014 and September 2023.
White epidermoid cyst of brainstem.
BMJ Case Rep
December 2024
Pathology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India.
White epidermoid cysts are rare intra-cranial lesions with an intrinsic brainstem location, though still rare. The location of the tumour poses radiological confusion and a therapeutic dilemma. Neuroimaging techniques like MRI with diffusion tensor imaging (DTI) in this case proved a useful tool in ruling out other pathologies at this location with certain morphologic similarities.
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