Results 81 to 90 of about 611,084 (238)
JPGN Reports, EarlyView.Abstract Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare congenital anomaly syndrome that can present with characteristics in multiple organ systems. These can include pachygyria, intellectual disability, seizures, congenital heart defects, renal malformations and gastrointestinal dysfunction.
Veronica Lee +4 more
wiley +1 more source
Heterotaxy syndrome with intestinal malrotation, polysplenia and azygos continuity
Clinics and Practice, 2018 Heterotaxy syndrome is a situs anomaly that comprises a large spectrum of cardiac and extracardiac malformations. Its association with intestinal malrotation is frequent. This later might be asymptomatic or manifest by signs of abdominal discomfort or of
Stéphanie Cupers +5 more
doaj +1 more source
A case report on the long‐term use of teduglutide in a pediatric patient with short bowel syndrome
Nutrition in Clinical Practice, EarlyView.Abstract Short bowel syndrome (SBS) is the leading cause of intestinal failure, frequently necessitating long‐term parenteral nutrition (PN). Teduglutide (TED), a glucagon‐like peptide‐2 analog, has demonstrated efficacy in reducing PN dependence in both adults and children. However, long‐term data in pediatric populations remain limited.
Tsuyoshi Sakurai +8 more
wiley +1 more source
Prenatal 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
A Case Report on Left-sided Appendicitis with Intestinal Malrotation
Cureus, 2020 Acute appendicitis is a mimicker of a wide range of gastrointestinal and genitourinary pathologies. The diagnosis becomes more challenging when it is associated with intestinal malrotation.
Himal Kharel +3 more
semanticscholar +1 more source
Chronic Intussusception Associated with Malrotation in a Child: A Variation of Waugh’s Syndrome?
Case Reports in Surgery, 2016 Chronic intussusception is a relatively uncommon disease most commonly observed in older children. Waugh’s syndrome represents a rare entity characterized by intestinal malrotation and acute intussusception.
Nick Zavras +2 more
doaj +1 more source
Surgical Case Reports, 2020 Background Malrotation is a congenital anomaly during the development of the embryonic intestine. Although it is generally considered a pediatric surgical condition, it can have significant implications for adult surgery in terms of reconstruction.
Yumiko Kageyama +8 more
doaj +1 more source
Intestinal malrotation in an adult: case report [PDF]
Turkish Journal of Trauma and Emergency Surgery, 2012 Intestinal malrotation is a developmental anomaly of the midgut in which the normal fetal rotation of intestines around the superior mesenteric artery and their fixation in the peritoneal cavity fail. Rotational anomalies of the midgut are rare in adults. Operative intervention is required generally when they are symptomatic.
Kerim Güzel, Selim Sözen
openaire +3 more sources
Acta Paediatrica, EarlyView.ABSTRACT Aim Solitary functioning kidney (SFK) is linked to chronic kidney disease (CKD) in children, particularly when associated with congenital anomalies of the kidney and urinary tract (CAKUT). Pelvi‐ureteric junction obstruction (PUJO) is the most frequent obstructive uropathy in SFK.
Mathilde Grapin +9 more
wiley +1 more source
Cureus, 2020 Intestinal malrotation (IM) is a congenital aberrancy of midgut rotation during development, which manifests among neonates more than adults. Older reports have estimated an incidence of one in 6,000 live births, which is now as high as one in 500.
Johnathan K Jarvis, A. Rambhajan
semanticscholar +1 more source