A family in which four cases of omphalocele were found within two generations is presented. One of the patients also had Down's syndrome. To our knowledge, this is the first report of such an occurrence in one family.
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http://dx.doi.org/10.1111/j.1399-0004.1976.tb01586.x | DOI Listing |
Surg Neurol Int
December 2024
Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Iizuka, Japan.
Background: Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare, life-threatening congenital malformation primarily treated with abdominogenital repair. The optimal indication and timing of neurosurgical interventions for the associated spinal cord lesions remains insufficiently studied. We reviewed spinal dysraphism in OEIS to evaluate the best timing for neurosurgical intervention.
View Article and Find Full Text PDFCureus
December 2024
General Surgery, Tameside General Hospital, Manchester, GBR.
Aims This study aims to analyse the type of repair and post-op outcomes for individuals who underwent surgical intervention and presented with symptomatic abdominal wall hernia as an emergency. It highlights the importance of timely elective hernia management in lowering emergency presentations and any related complications. Background Abdominal wall hernias are common surgical conditions that can present electively or as emergencies, with emergency cases being associated with higher complication rates.
View Article and Find Full Text PDFMol Neurobiol
December 2024
Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.
Neurodevelopmental disorders (NDD) comprise clinical conditions with high genetic heterogeneity and a notable enrichment of genes involved in regulating chromatin structure and function. The EHMT1/2 epigenetic complex plays a crucial role in repression of gene transcription in a highly tissue- and temporal-specific manner. Mutations resulting in heterozygous loss-of-function (LoF) of EHMT1 are implicated in Kleefstra syndrome 1 (KS1).
View Article and Find Full Text PDFJAMA Netw Open
December 2024
Center for Healthcare Outcomes and Policy, University of Michigan, Ann Arbor.
Importance: Although the use of robotic-assisted ventral hernia repairs has increased significantly over the last decade, the experience surgeons need to achieve comparable outcomes with more established laparoscopic and open approaches has not been well characterized.
Objective: To estimate the learning curves for robotic-assisted ventral (incisional and umbilical) hernia repair.
Design, Setting, And Participants: This retrospective cohort study included Medicare fee-for-service patients (≥18 years) enrolled in Medicare Part A and Part B with no managed care undergoing ventral hernia repairs between 2010 and 2020.
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