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MYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review.
Am J Med Genet A
January 2025
NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
46,XY differences/disorders of sex development (DSD) are genetically heterogeneous conditions characterized by atypical development of the reproductive system. MYRF, a gene encoding a transcription factor, has been identified as a potential causative gene for DSD and cardiac urogenital syndrome (CUGS). This study aims to delineate the clinical manifestations of patients with 46,XY DSD and MYRF mutations, encompassing both from our cohort and cases reported in the literature.
View Article and Find Full Text PDFAssessment of the Effectiveness of Fascial Manipulation in Patients with Degenerative Disc Disease of the Lumbosacral Spine.
Life (Basel)
December 2024
Department of Cardiology, Pomeranian Medical University in Szczecin, 70-204 Szczecin, Poland.
The aim of this study was to evaluate the effectiveness of Fascial Manipulation in patients with disc herniations of the lumbar spine confirmed by magnetic resonance imaging. This study included 69 patients with intervertebral disc damage of the lumbar spine, as confirmed by magnetic resonance imaging. Patients were divided into two groups: a study group and a control group.
View Article and Find Full Text PDFClinical efficacy of electrosurgery and steel scalpel surgery for umbilical herniorrhaphy in bovine calves: A comparative analysis.
Heliyon
January 2025
Department of Surgery and Obstetrics, Faculty of Veterinary Science, Bangladesh Agricultural University, Mymensingh, 2202, Bangladesh.
Electrosurgery (ES) offers a promising alternative to conventional steel scalpel surgery (SSS), providing superior hemorrhage control and efficient tissue dissection with minimal invasiveness. Given the limited literature, this study aims to compare the clinical efficacy of ES with that of SSS in bovine umbilical herniorrhaphy. Fourteen crossbred male calves with reducible umbilical hernias, aged less than one month and weighing 25-47 kg, were randomly assigned to two experimental groups: group A (ES) and group B (SSS), each containing seven calves.
View Article and Find Full Text PDFPrenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.
J Community Genet
January 2025
Red Nacional de Anomalías Congénitas (RENAC), Instituto Nacional de Epidemiología, ANLIS Malbrán, Buenos Aires, Argentina.
Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low).
View Article and Find Full Text PDFDiaphragmatic Rupture in the Postpartum Period.
Cureus
December 2024
General Surgery, Ibn Rochd University Hospital/Hassan II University, Casablanca, MAR.
Diaphragmatic rupture during labor is an exceptionally rare condition, with a limited number of cases reported in the literature. A recent review underscores the rarity of this complication and emphasizes the associated challenges in diagnosis and management. This case report presents a postpartum diaphragmatic rupture, focusing on the diagnostic and therapeutic challenges it poses, particularly in the context of unsupervised deliveries.
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