Results 41 to 50 of about 8,654 (152)

Review of nutrition management of pediatric intestinal pseudo‐obstruction

open access: yesNutrition in Clinical Practice, EarlyView.
Abstract Chronic intestinal pseudo‐obstruction (CIPO) is a rare, heterogeneous, and debilitating disorder characterized by profound intestinal dysmotility and severe nutrition challenges. Its presentation resembles that of mechanical bowel obstruction, but CIPO occurs in the absence of luminal obstruction.
Senthilkumar Sankararaman   +5 more
wiley   +1 more source

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

Two Cases With Atypical Presentation of Intestinal Malrotation During Adulthood

open access: yesCase Reports in Surgery
Intestinal malrotation is often considered a disease of the newborn. It involves the failure of the 270° counterclockwise rotation of the midgut during embryonic development.
Aaron Womer   +2 more
doaj   +1 more source

Intestinal Atresia in Finland: Maternal Risk Factors, Prevalence, Associated Anomalies and Survival

open access: yesActa Paediatrica, EarlyView.
ABSTRACT Aim We aimed to investigate prevalence, associated anomalies and survival of congenital intestinal atresia and to examine maternal risk factors for jejunoileal atresia (JIA). Methods All children born with, or pregnancies terminated because of, JIA or colonic atresia (CA) in Finland during 1987–2019 were identified from the Finnish Register of
Esko Tahkola   +9 more
wiley   +1 more source

Elevated serum aminotransferases in an infant with failure to thrive: A clinicopathological case report

open access: yes
JPGN Reports, EarlyView.
Jamie M. Klapp   +4 more
wiley   +1 more source

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 3, Page 205-211, April 2026.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone   +8 more
wiley   +1 more source

Avoiding the Pitfall: Ectopic Pelvic Kidney Mimicking a Pelvic Mass in a Patient With Recurrent Urinary Tract Infections. A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
A 55‐year‐old woman with recurrent UTIs and a fixed pelvic mass on examination was intially suspected of having a neoplasm. Contrast‐enhanced CT revealed an ectopic pelvic kidney (yellow arrow, adjacent to uterus U), confirming an asymptomatic congenital anomaly as the cause. Imaging is essential to avoid misdiagnosis and iatrogenic injury.
Christian Damien Tchuisseu Ngapjang   +7 more
wiley   +1 more source

Intussusception in Cases of Malrotation: Is the Association Benign?

open access: yesMedical Journal of Dr. D.Y. Patil Vidyapeeth
Background: Does a coexisting intestinal malrotation effect the management of intussusception or its results? Objectives: Analysis of the outcomes of intussusception occurring in malrotation cases. Methods: A retrospective study involving intussusception
Ramdhani Yadav   +5 more
doaj   +1 more source

Abdominoscrotal Hydrocele with Intestinal Malrotation: A Rare Association

open access: yesCase Reports in Radiology, 2012
Abdominoscrotal hydrocele is an uncommon clinical entity and so is intestinal malrotation. We report a case of 15 year old boy who presented with lump in abdomen previously diagnosed as mesenteric cyst on ultrasound.
Sonal Jain   +4 more
doaj   +1 more source

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