Results 111 to 120 of about 62,571 (247)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Juvenile polyposis in a SMAD4‐mutated child: A call for early surveillance

JPGN Reports, Volume 7, Issue 2, Page 262-265, May 2026.
Abstract We report the case of a 10‐year‐old boy with hereditary hemorrhagic telangiectasia (HHT) and a family history of SMAD4‐related juvenile polyposis syndrome (JPS), presenting with hypoferritinaemia unresponsive to oral supplementation. Endoscopic evaluation revealed multiple gastrointestinal polyps, including duodenal, gastric, and colonic ...
Claudia Lorusso, Giuseppe Lassandro, Stefania Castellaneta, Valentina Palladino, Giovanni la Grasta, Vanessa Nadia Dargenio, Vittorio Labriola, Alberto Gaeta, Paola Giordano, Fernanda Cristofori, Ruggiero Francavilla   +10 more
wiley   +1 more source

Navigating the Pediatric Inguinal Hernia Repair Conundrum: Occult Bilaterality of Patent Processus Vaginalis as an Indication for Laparoscopy

Journal of Indian Association of Pediatric Surgeons
Introduction: Bilateral inguinal hernia is universally accepted as an indication to repair a pediatric inguinal hernia through the laparoscopic route.
Siva Kamesh, Arvind Sinha, Kirtikumar J Rathod, Manish Pathak, Avinash Jadhav, Rahul Saxena, Shubhalaxmi Nayak   +6 more
doaj   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

Nationwide survey to evaluate medical utilization by patients with inguinal hernia and the risk of developing varicocele in Taiwan

Patient Preference and Adherence, 2014
Wen-Liang Liu1,* Yu-An Chen,2 Yu-Wei Lai,3,4,* Thomas Y Hsueh,3,4 Shiou-Sheng Chen,3,4 Allen W Chiu41Taipei Databank for Public Health Analysis, Institute of Clinical Research and Teaching, Taipei City Hospital, 2Institute of Preventive Medicine ...
Liu WL, Chen YA, Lai YW, Hsueh TY, Chen SS, Chiu AW   +5 more
doaj  

HUBUNGAN USIA DENGAN LAMA RAWAT INAP PADA PASIEN HERNIA INGUINALIS LATERALIS REPONIBILIS YANG DILAKUKAN OPERASI HERNIOREPAIR DENGAN MENGGUNAKAN MESH DI RSUD DR. MOEWARDI SURAKARTA TAHUN 2008-2009 [PDF]

, 2010
Muhammad Prabu Aryanda. 2010. Hubungan Usia dengan Lama Rawat Inap pada Pasien Hernia Inguinalis Lateralis Reponibilis yang Dilakukan Operasi Herniorepair dengan Menggunakan Mesh di RSUD Dr. Moewardi Surakarta. Latar belakang.
ARYANDA, MUHAMMAD PRABU
core  

Laparoscopic Embryo Transfer in Swine: An Effective Alternative to Traditional Open Surgery

Reproduction in Domestic Animals, Volume 61, Issue 5, May 2026.
ABSTRACT While embryo transfer (ET) has not yet been widely adopted in the commercial swine industry, it is an essential tool in biomedical research, including the creation of gene‐edited pigs. Traditionally, ET in pigs is performed by open surgery (laparotomy), an effective but invasive and time‐consuming method associated with risks such as infection
H. Baldassarre, L. G. Currin, M. P. de Macedo, V. Guay, F. L. Facioli, R. Duffy, A. Ojerio, L. Socransky, Z. da Silva, K. Gutierrez, W. G. Glanzner, V. Bordignon   +11 more
wiley   +1 more source

Total extra peritoneal Repair of Inguinal Hernia under General Anesthesia Versus Spinal Anesthesia

Journal of Nepal Health Research Council
Background: Total extra peritoneal inguinal hernia repair is established approach to inguinal hernia repair usually performed under general anesthesia.
Udita Mishra, Ghanashyam Thapa
doaj   +1 more source

The challenges faced in the design, conduct and analysis of surgical randomised trials [PDF]

, 2009
Randomised evaluations of surgical interventions are rare; some interventions have been widely adopted without rigorous evaluation. Unlike other medical areas, the randomised controlled trial (RCT) design has not become the default study design for the ...
Cook, Jonathan Alistair
core  

Surgical Outcomes of Laparoscopic versus Open Inguinal Hernia Repair in Children: A 10-year Single-surgeon Study

Journal of Indian Association of Pediatric Surgeons
Aims: The aims of this study were to compare surgical outcomes of conventional open inguinal hernia repair (OR) with laparoscopic repair of inguinal hernia (LR) repair in Indian children operated by a single surgeon.
Amar Shah, Ria Sharma, Anirudh Shah
doaj   +1 more source