Results 41 to 50 of about 16,608 (207)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

open access: yesThe FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio   +12 more
wiley   +1 more source

Nonobstructing Colonic Dilatation and Colon Perforations Following Renal Transplantation [PDF]

open access: yes, 1990
Nonobstructing colonic dilatation has not been commonly reported following renal transplantation, and colon perforations carry a high morbidity and mortality in this population.
Hakala, TR   +5 more
core   +1 more source

A Case of Fulminant Immune‐Related Enterocolitis During Immune Checkpoint Inhibitor Therapy for Metastatic Renal Cell Carcinoma

open access: yesIJU Case Reports, Volume 9, Issue 3, May 2026.
ABSTRACT Introduction Combination therapy with immune checkpoint inhibitors (ICIs) has become a standard treatment for metastatic renal cell carcinoma (mRCC). However, ICIs may also cause immune‐related adverse events. We report a case of mRCC that developed fulminant immune‐related enterocolitis.
Kasumi Kanai   +9 more
wiley   +1 more source

A Case of Toxic Megacolon Caused by Clostridium difficile Infection and Treated with Fecal Microbiota Transplantation

open access: yesGut and Liver, 2015
Toxic megacolon is a rare clinical complication of fulminant Clostridium difficile infection. The mortality rate of fulminant C. difficile infection is reported to be as high as 50%.
doaj   +1 more source

Pre-Columbian Chagas disease in Brazil: Trypanosoma cruzi I in the archaeological remains of a human in Peruaçu Valley, Minas Gerais, Brazil

open access: yesMemorias do Instituto Oswaldo Cruz, 2008
We evaluated the presence and distribution of Trypanosoma cruzi DNA in a mummy presenting with megacolon that was dated as approximately 560 ± 40 years old. The mummy was from the Peruaçu Valley in the state of Minas Gerais, Brazil.
Alexandre Fernandes   +6 more
doaj   +1 more source

William Arbuthnot Lane (1856-1943): Surgical Innovator and His Theory of Autointoxication. [PDF]

open access: yes, 2017
William Arbuthnot Lane contributed to the advancement of many fields of orthopedics, otolaryngology, and general surgery. He is credited for his no-touch technique and the invention of long-handled instruments, some of which are still in use today, to ...
Cowan, Scott W.   +4 more
core   +1 more source

Gastrointestinal Parasites and the Neural Control of Gut Functions [PDF]

open access: yes, 2015
Gastrointestinal motility and transport of water and electrolytes play key roles in the pathophysiology of diarrhea upon exposure to enteric parasites.
André G. Buret, Marie C. M. Halliez
core   +3 more sources

FROG (Frequency Rates, mOrbidities and timinGs) of Surgical Interventions for UC: A Protocol for an International, Multi‐Centre, Retrospective Cohort Study on Frequency Rates, Morbidities and Timings of Surgical Interventions for Ulcerative Colitis

open access: yesJCC Plus, Volume 1, Issue 3, May 2026.
ABSTRACT Background The surgical journey of patients diagnosed with ulcerative colitis (UC) typically begins with an index colectomy, which may be followed by restorative procedures or further operations due to complications. Variation in surgical strategies exists, impacting patient outcomes.
Orestis Argyriou   +5 more
wiley   +1 more source

Massive Megacolon Due to Giant Faecaloma of the Sigmoid Colon in an Elderly Patient

open access: yesTurkish Journal of Colorectal Disease, 2020
Faecaloma is a mass of inspissated faeces, typically found in the rectosigmoid colon. Furthermore, faecalomas may cause intestinal obstruction, stercoral ulcer development and colon perforation, which may be due to the pressure effect of large faecal ...
Zafer Teke   +3 more
doaj   +1 more source

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