Results 231 to 240 of about 9,668,529 (318)

Chinese pan‐cancer patient genomic characteristics: A comprehensive analysis based on the National Cancer Center–Clinical Diagnostics Knowledgebase real‐world clinical sequencing cohort

open access: yesInterdisciplinary Medicine, EarlyView.
We assembled National Cancer Center–Clinical Diagnostics Knowledgebase, a clinical genomic knowledgebase of 6935 tumors with matched normal samples, revealing key somatic alterations and actionable variants (70.2% of the cohort). Enrichment of certain different gene mutations was observed between Chinese and American populations, along with a strong ...
Hongrui Li   +10 more
wiley   +1 more source

Feeding difficulties in children with esophageal atresia: A parent‐reported multicenter study

open access: yesJournal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objective Feeding difficulties (FDs) are common among children with esophageal atresia (EA) and tracheoesophageal fistula (TEF), but knowledge about their prevalence and risk factors is limited. This multicenter study aimed to assess the prevalence, subtypes, and associated factors of FD in children with EA/TEF. Methods Parents of children who
Tut Galai   +7 more
wiley   +1 more source

Interrater reliability in pediatric high‐resolution anorectal manometry recordings

open access: yesJournal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives High‐resolution anorectal manometry (HR‐ARM) is a diagnostic test assessing anorectal neuromuscular function in children with constipation and/or fecal incontinence. Interrater reliability of HR‐ARM in children has not been previously studied. The aim of this study was to assess the interrater reliability of pediatric HR‐ARM studies.
Julia M. J. van der Zande   +12 more
wiley   +1 more source

When Textbook Meets Reality: A Rare Case of Boerhaave's Syndrome With Mackler's Triad. [PDF]

open access: yesJ Investig Med High Impact Case Rep
Ajani T   +4 more
europepmc   +1 more source

Beyond eosinophils: A proteomic dissection of remodeling and inflammation in suspected eosinophilic esophagitis

open access: yesJournal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Eosinophilic esophagitis (EoE) is characterized by eosinophilic inflammation and epithelial remodeling. However, current biomarkers focus predominantly on eosinophilia, overlooking basal cell hyperplasia (BCH), a histologic feature that may persist despite treatment.
Adi Eindor‐Abarbanel   +7 more
wiley   +1 more source

DOCK8 deficiency presenting with sclerosing cholangitis, raised immunoglobulin E, and bronchiectasis: A fatal pediatric case report

open access: yesJPGN Reports, EarlyView.
Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive primary immunodeficiency. Patients with DOCK8 deficiency typically present at early age with allergic manifestations, cutaneous and respiratory infections, raised immunoglobulin E, and they have an increased risk of developing malignancies.
Natalia Nedelkopoulou   +4 more
wiley   +1 more source

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