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A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases.
J Investig Med High Impact Case Rep
January 2025
Faculty of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, Palestine.
Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. The syndrome belongs to a group of metabolic disorders called Congenital Glycosylation Disorders (CGD).
View Article and Find Full Text PDFVitamin D protects spermatogonia and Sertoli cells from heat stress damage by inhibiting NLRP3.
Front Pediatr
January 2025
Pathology Department, Anhui Provincial Children's Hospital, Hefei, Anhui, China.
Introduction: Cryptorchidism can damage cells in the cryptorchid testes due to elevated local temperatures, potentially impacting the fertility of the child in adulthood. Research indicates that vitamin D enhances sperm quality in adult males. This study aimed to explore whether vitamin D inhibits NLRP3 activation, thus helping to mitigate heat stress damage to testicular spermatogenic and Sertoli cells.
View Article and Find Full Text PDFA case report of hypospadias combined with polyorchidism.
Urol Case Rep
January 2025
Department of Urology, General Hospital of Central Theater Command of Chinese People's Liberation Army, China.
Hypospadias is a common congenital malformation of the reproductive system; however, to date, no cases of hypospadias complicated by polyorchidism have been reported in the literature. This article reports a case of a 1-year-old boy presenting with hypospadias, who was also diagnosed with polyorchidism combined with cryptorchidism. Preoperative Doppler ultrasound revealed two testes on the right side, and an atrophic testis on the left.
View Article and Find Full Text PDFPrune belly syndrome (PBS), or Eagle-Barrett syndrome, is a rare congenital disorder marked by abdominal wall muscle deficiency, urinary tract anomalies, and cryptorchidism, causing significant abdominal wall laxity and functional impairment. This case report discusses an innovative approach to abdominal wall reconstruction in a 19-year-old male patient with PBS and associated conditions, including chronic renal failure and spina bifida. Previously, he underwent distal ureterectomy and vesicoureteral reimplantation at the age of two years to correct urinary tract dilation and bilateral orchiopexy.
View Article and Find Full Text PDFJaffe-Campanacci Syndrome: A Case Report and Review of the Literature.
Cureus
December 2024
Orthopedics and Traumatology, Ondokuz Mayis University, Samsun, TUR.
Jaffe-Campanacci syndrome (JCS) is a rare disorder characterized by multiple non-ossifying fibromas (NOFs), café-au-lait spots, and other features such as mental retardation and cryptorchidism. It is often clinically and genetically similar to neurofibromatosis type 1 (NF1), complicating diagnosis. This report presents a 17-year-old male with right knee pain, café-au-lait spots, and axillary freckling.
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