Results 91 to 100 of about 273,864 (266)

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Umbilical Hernia Repair and Pregnancy: Before, during, after…

Frontiers in Surgery, 2018
Umbilical hernias are most common in women than men. Pregnancy may cause herniation or render a preexisting one apparent, because of progressively raised intra-abdominal pressure. The incidence of umbilical hernia among pregnancies is 0.08%.
H. Kulaçoğlu
semanticscholar   +1 more source

Musculoskeletal Diseases: Mechanisms and Therapeutic Advances

MedComm, Volume 6, Issue 12, December 2025.
Musculoskeletal diseases comprise a broad spectrum of inflammatory, degenerative, and neoplastic disorders. Increasing evidence highlights the central role of immune regulation in their pathogenesis, with complex interactions among immune, bone, muscle, and stromal cells.
Xiao Ma, Eloy Yinwang, Xupeng Chai, Fangqian Wang, Zehao Chen, Shengdong Wang, Hao Zhou, Yucheng Xue, Jiangchu Lei, Fanglu Chen, Hengyuan Li, Shixin Chen, Shenzhi Zhao, Kelei Wang, Liang Chen, Junjie Gao, Zhaoming Ye, Nong Lin   +17 more
wiley   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

A Case of CSNK2A1 Gene Variant Causing Okur‐Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum

Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.
In the present study, a de novo variant of the CSNK2A1 gene, designated c.149A>G (p.Tyr50Cys), was identified in a subject diagnosed with OCNDS by WES. The molecular mechanism by which this variant leads to a wide range of clinical phenotypes by disrupting the kinase domain function was elucidated through a combination of experimental investigation and
Xin Li, Shuping Wang, Xin Liu, Zhenjing Wang, Na Lv, Shaoting Wang, Wentao Yang   +6 more
wiley   +1 more source

Frecuencia de hernias epigástricas ocultas en herniorrafias umbilicales: Experiencia de un centro de cirugía ambulatoria en Medellín

Revista Colombiana de Cirugía
Introducción. Dentro de las hernias ventrales, las umbilicales tienen una incidencia del 6-14 %, mientras que las epigástricas del 1,6-3,6 %.
Óscar Gabriel Villamizar-Blanco, Felipe Zapata-Uribe, María Camila Jaramillo-Guzmán, Alejandro Madrigal-Montoya, Mariana Cardona-López, Juan Sebastián Garcés-Otero, Esteban Villegas-Arbeláez   +6 more
doaj   +1 more source

Acute Abdomen From Umbilical Hernia Rupture to Flood Syndrome: A Case Report and Review of Literature

Journal of Medical Cases, 2019
Flood syndrome is caused by spontaneous rupture of an umbilical hernia in a patient with tense, long-standing ascites. It is a rare complication of hepatic cirrhosis and has a high mortality rate.
Gavin Liu, A. Srinivasan, Sangeeta Mutnuri, Muralidhar Reddy Yerramadha, M. Agraharkar   +4 more
semanticscholar   +1 more source

Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes

Prenatal Diagnosis, Volume 45, Issue 13, Page 1689-1697, December 2025.
ABSTRACT Objective This study aimed to assess outcomes of fetuses with prenatally detected omphalocele and the frequency of successful vaginal delivery in pregnancies with suspected non‐lethal omphalocele and intended active neonatal management and its impact on neonatal outcome.
H. Heinrich, D. Kunne, J. P. M. Derikx, E. van Leeuwen, I. H. Linskens, E. Pajkrt   +5 more
wiley   +1 more source

PWE-39 A multidisciplinary approach to symptomatic umbilical hernia in patients with ESLD optimises outcome [PDF]

, 2021
Abdullah Malik, Stuart Robinson, Gourab Sen, Mark Hudson, Manas Derek, Steven Masson, John Hammond   +6 more
openalex   +1 more source

Application of the Da Vinci Single‐Port (SP) Robot in General Surgery: A First Systematic Review

The International Journal of Medical Robotics and Computer Assisted Surgery, Volume 21, Issue 6, December 2025.
ABSTRACT Introduction Minimally invasive surgery has revolutionized surgical practice by reducing surgical trauma and enhancing recovery. In this context, the da Vinci SP System represents a major technological advancement. This review aims to report its clinical applications in general surgery, evaluating associated outcomes and potential advantages ...
Antonio Cubisino, Maurice Chazal, Fabrizio Panaro   +2 more
wiley   +1 more source