Results 71 to 80 of about 21,919 (259)

Clinical intestinal transplantation: New perspectives and immunologic considerations [PDF]

open access: yes, 1998
Background: Although tacrolimus-based immunosuppression has made intestinal transplantation feasible, the risk of the requisite chronic high- dose treatment has inhibited the widespread use of these procedures.
Abu-Elmagd, K   +14 more
core   +1 more source

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

open access: yesMedicine Bulletin, EarlyView.
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang   +3 more
wiley   +1 more source

Type 3B jejunoileal atresia management at a tertiary hospital in northern Tanzania: A report of three cases

open access: yesClinical Case Reports
Key Clinical Message Jejunalileal atresia is a cause of intestinal obstruction in the newborn, hence a surgical emergency. Prenatal diagnosis can be made by simple obstetric ultrasound and postnatal by plain abdominal x‐ray to plan a multidisciplinary ...
Evance Salvatory Rwomurushaka   +3 more
doaj   +1 more source

Stapled intestinal anastomosis is a simple and reliable method for management of intestinal caliber discrepancy in children [PDF]

open access: yes, 2012
PURPOSE: Popularity of minimally invasive surgeries has led to the development of stapled intestinal anastomosis for adults. The advanced instruments used in this technique are getting suitable with the small intestinal lumens of neonates and infants. We
Hiroo Uchida   +5 more
core   +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

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock   +5 more
wiley   +1 more source

Concordant Intestinal Atresia in Two Pairs of Monozygotic Twins

open access: yesAmerican Journal of Perinatology Reports, 2011
Intestinal atresia in both twins from the same pregnancy is very rare. Only seven pairs of twins have been described. The authors report on two cases of monozygotic twins with different types of intestinal atresia and clinical evolution.
Mario Giuffrè   +2 more
doaj   +1 more source

Prenatal Detection of Fetal Abdominal Cysts: Can We Reassure Future Parents?

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to evaluate the perinatal outcome of fetal abdominal cysts based on the timing of prenatal diagnosis and identify prenatal characteristics associated with postnatal surgical intervention. Methods Fetuses with prenatally detected isolated abdominal cysts referred between January 2007 and December 2022 were included ...
H. Heinrich   +8 more
wiley   +1 more source

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau   +10 more
wiley   +1 more source

Small bowel and liver/small bowel transplantation in children. [PDF]

open access: yes, 1993
A clinical trial of intestinal transplantation was initiated at the University of Pittsburgh in May 1990. Eleven children received either a combined liver/small bowel graft (n = 8) or an isolated small bowel graft (n = 3).
Nour, B   +4 more
core  

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