Results 151 to 160 of about 135,674 (342)

Delayed bowel stricture complicating superior mesenteric vein thrombosis

, 2018
Tien‐Yu Huang, Yen-Lien Chou
openalex   +1 more source

Stricturing Crohn’s disease single-cell RNA sequencing reveals fibroblast heterogeneity and intercellular interactions [PDF]

, 2023
Pranab K. Mukherjee, Quang Tam Nguyen, Jiannan Li, Shuai Zhao, Stephen M. Christensen, Gail West, Jyotsna Chandra, Ilyssa O. Gordon, Sinan Lin, Jie Wang, Ren Mao, D. Czarnecki, Carla Rayan, Prerna Kotak, Thomas Plesec, Samir Lal, Thomas Fabre, Shoh Asano, Kathryn Bound, Kevin M. Hart, Chanyoung Park, Robert Martinez, Ken Dower, Thomas A. Wynn, Shaomin Hu, Nayden G. Naydenov, Martin Decaris, Scott Turner, Stefan D. Holubar, Scott R. Steele, Claudio Fiocchi, Andrei I. Ivanov, Kellie M. Kravarik, Florian Rieder   +33 more
openalex   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Early vs. Delayed Repair in Urethral Injuries: A Systematic Review

Société Internationale d’Urologie Journal
Background/Objectives: The optimal timing for definitive repair of urethral injuries, early versus delayed, remains a subject of ongoing debate. While delayed repair has traditionally been favored to allow resolution of local tissue trauma, emerging ...
Kuncoro Adi, Bacilius A. Priyosantoso
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Transmural Histology Scores in Stricturing Crohn’s Disease: Seeking to Build Precision on Uncertain Foundations [PDF]

, 2020
Roger Feakins
openalex   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Education as a Stepping-Stone to Push Back Against the Strictures of Patriarchy and the Scourge of Ritual Murder, An Examination of Unity Dow\'s The Screaming of the Innocent

, 2017
Mamadou Abdou Babou Ngom, TJPRC
openalex   +1 more source

Renal vessel–assisted anastomosis improves the abdominal heart transplant model in rats without bilateral lower limb ischemia

Animal Models and Experimental Medicine, EarlyView.
A modified heterotopic heart transplantation (HTx) in rats was reported to improve the surgical success rate, in which the donor's vessels, the brachiocephalic trunk (BT) and the pulmonary artery (PA), were sutured to the recipient's left renal artery (RA) and left renal vein (RV).
Meng Wang, Wuxia Wang, Xunfeng Zou
wiley   +1 more source