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Down syndrome with cryptorchidism and retroperitoneal mixed germ cell tumour in an adult patient: a case report and literature review.
World J Surg Oncol
January 2025
Department of Colorectal Surgery, Dingli Clinical College, Wenzhou Medical University (Wenzhou Central Hospital), 252 Baili East Road, Wenzhou, Zhejiang Province, 32500, China.
Background: An association between testicular cancer and Down syndrome has been reported by several studies. Down syndrome with cryptorchidism and retroperitoneal mixed germ cell tumours is rare, and yolk sac tumours are often considered secondary components of mixed germ cell tumours. Herein, we present a rare case of retroperitoneal mixed germ cell tumour with cryptorchidism accompanied by yolk sac tumour and seminoma in a patient with Down syndrome, along with its imaging features.
View Article and Find Full Text PDFWe present a clinical observation of an 18-year-old female patient with congenital bronchiectasis combined with congenital cystic degeneration of the upper lobes of both lungs, Williams-Campbell syndrome, long-COVID, severe course. The patient was treated in infectious disease department (three times), with subsequent transfer to pulmonology department of Kursk Regional Multi-Purpose Clinical Hospital from 31.01.
View Article and Find Full Text PDFCase series of kidney transplantation in two pediatric recipients with rare genetic diseases and intellectual disability.
BMC Pediatr
December 2024
Department of Surgery, University of Miami Miller School of Medicine, Jackson Memorial Hospital, Miami, FL, USA.
Background: Kidney transplantation is the gold standard treatment for end-stage kidney disease in children. Rare genetic systemic diseases associated with cystic kidney disease such as COL4A1-related disorder and oral facial digital syndrome type 1 could contribute to end-stage kidney disease in the pediatric population but there is scarce evidence in the literature regarding kidney transplant outcomes in these cases.
Case Presentation: We report a case of a 5-year-old male with COL4A1-related disorder who received a living-related donor kidney transplant from his mother.
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 PDFJohanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.
Pediatr Radiol
January 2025
St. John's Medical College Hospital, Sarjapur Road, Koramangala, Karnataka, 560034, Bengaluru, India.
Johanson-Blizzard syndrome is a rare genetic disorder characterised by various systemic manifestations, including sensorineural hearing loss. We present a unique case of a 3.5-year-old girl with genetically confirmed Johanson-Blizzard syndrome, who exhibited typical features alongside rare radiological findings of cystic dilation of the cochlea and hypoplastic modiolus.
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