Results 81 to 90 of about 272,711 (206)

Exploration of the Pathogenic Mechanism of the Factor XIII A Subunit in a Patient With Congenital Factor XIII Deficiency

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study identifies a novel Ser414Leu variant in the F13A1 gene associated with congenital FXIII deficiency, demonstrating its potential to destabilize the protein structure. ABSTRACT Background Congenital factor XIII (FXIII) deficiency is an extremely rare autosomal recessive blood clotting disorder with an incidence of approximately one in two ...
Min Wang, Nan Wei, Tianping Chen, Aoshuang Jiang, Yinghui Zhao, Chenglin Zhu, Lijuan Zhu, Lijun Qu, Hongjun Liu   +8 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

Breast Findings in Females With Beckwith–Wiedemann Syndrome

Pediatric Blood &Cancer, Volume 73, Issue 1, January 2026.
ABSTRACT Beckwith–Wiedemann syndrome (BWS) is an overgrowth condition caused by epigenetic defects on chromosome 11p15. Children with BWS have a predisposition to embryonal tumors such as Wilms tumor and hepatoblastoma. However, few reports of breast tumors in females with BWS have been published and the risk of malignancy and need for screening ...
Liron D. Grossmann, Andrew M. George, Tom Lapidus, Cassandra Ligh, Suzanne P. MacFarland, Jennifer M. Kalish   +5 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

Can Prenatal Ultrasonographic Markers Predict Enteral Feeding Tolerance in Neonates With Fetal Omphalocele?

Prenatal Diagnosis, Volume 46, Issue 1, Page 21-29, January 2026.
ABSTRACT Objective This study aimed to identify prenatal ultrasonographic predictors of enteral feeding tolerance in neonates with omphaloceles. Method This retrospective cohort study included all live‐born neonates prenatally diagnosed with omphalocele at Emma Children's Hospital/Amsterdam UMC approximately 2004–2024.
Maaike Hogerwerf, Hanna Heinrich, Merit M. Tabbers, Ramon R. Gorter, Bart G. P. Koot, Jos W. R. Twisk, Eva Pajkrt, Joep P. M. Derikx   +7 more
wiley   +1 more source

Undetected cases after implementation of first‐trimester anomaly scan in low‐risk population: insights from the IMITAS study

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 1, Page 27-33, January 2026.
ABSTRACT Objective To assess the effectiveness of the first‐trimester anomaly scan (FTAS) performed as part of a centrally steered national screening program in The Netherlands by investigating false‐negative cases with a fetal structural anomaly that was not detected at the FTAS.
K. Bronsgeest, E. E. R. Lust, S. C. E. Zaaijer, L. Henneman, N. Crombag, C. M. Bilardo, R.‐J. H. Galjaard, E. Sikkel, A. K. K. Teunissen, M. N. Bekker, M. C. Haak, Collaborators, A. B. C. Coumans, A. Elvan‐Taşpınar, S. Galjaard, A. T. J. I. Go, E. van Leeuwen, G. T. R. Manten, E. Pajkrt   +18 more
wiley   +1 more source

Progestagens Monitoring in 147 Mares in Order to Induce Foaling With Oxytocin

Veterinary Medicine and Science, Volume 12, Issue 1, January 2026.
Parturition was induced when the progestagens concentration fell of about 50% within 24 to 48 h. Induction was performed at 9 p.m. in 93 mares that followed the rule of the drop of progestagens, by a single IM oxytocin injection from 10 to 50 UI according to the weight of the mare (120 to 900 kg).
Daniel Tainturier, Benoit Tainturier, Sandrine Michaud, Lamia Briand‐Amirat, Emmanuel Topie, Diego Moreno   +5 more
wiley   +1 more source

Biliary Reconstruction for Intrahepatic Bile Duct Strictures and Optimal Jejunal Limb Length in Congenital Biliary Dilation Surgery: A Literature Review and Consensus Statements From the AOB Consensus Meeting

Asian Journal of Endoscopic Surgery, Volume 19, Issue 1, January/December 2026.
ABSTRACT Introduction With the aim of facilitating cross‐specialty discussion on detailed anatomical interpretations in congenital biliary dilatation surgery, the Japan Society for Endoscopic Surgery (JSES) and the Consensus Meeting of Anatomy on the Border (AOB) developed a series of consensus statements in 2024.
Masahiro Takeda, Hiroki Mori, Tetsuya Idichi, Takahisa Tainaka, So Nakamura, Yuichiro Miyake, Go Miyano, Atsuyuki Yamataka, Yoshitaka Kiya, Toshiharu Matsuura, Toshiya Abe, Kenoki Ohuchida, Kohei Nakata, Takao Ohtsuka, Hiroki Ishibashi, Hiroyuki Koga, Yuichi Nagakawa, Tatsuro Tajiri, Masafumi Nakamura, Yuko Kitagawa, Hiroo Uchida   +20 more
wiley   +1 more source

UMBILICAL HERNIA IN CALVES: INCIDENCE AND TREATMENT

The Iraqi Journal of Veterinary Medicine, 1996
Six thousandand thirty three calves have been examined for umbilical hernia within the years 1990 to 1995 in 3 different veternary clinics and 688 (11.4%) were suffering from umbilical hernia.
R. N. I ALASAD, A. J. GHAZI
doaj   +1 more source

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

Clinical Genetics, Volume 109, Issue 1, Page 176-180, January 2026.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis, Afrodite Kampouraki, Danai Veltra, Faidon‐Nikolaos Tilemis, Maria Vasilopoulou, Aikaterini Dokou, Elissavet Georgiadou, Euthalia Karavergou, Maria Christolouka, Alexis Alexopoulos, Dimitra Kirillidi, Maria Goudesidou, Konstantina Kosma, Christalena Sofocleous, Periklis Makrythanasis   +14 more
wiley   +1 more source