Results 61 to 70 of about 21,919 (259)
Abstract Objectives The complex care needs of pediatric patients with short bowel syndrome‐associated intestinal failure (SBS‐IF) can negatively impact the health‐related quality of life (HRQoL) of patients and their caregivers. We assessed the impact of teduglutide on HRQoL of pediatric patients with SBS‐IF.
Danielle Wendel +9 more
wiley +1 more source
Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature
Background: Mitchell-Riley Syndrome (OMIM # 615710) is a rare autosomal recessive disorder, characterized by a genetic mutation in the RFX6 gene. Clinically it is presented with triad of neonatal diabetes, gall bladder agenesis/hypoplasia and intestinal
Nourah Alruqaie, Majid Alfadhel
doaj +1 more source
Does breastmilk with medium‐chain triglycerides (MCT) after Kasai support growth and improve surgical outcomes? Abstract Objective To relate post‐surgical feeding regimens to growth and surgical outcomes in children with biliary atresia (BA) after hepato‐portoenterostomy (Kasai).
Thora Wesenberg Helt +6 more
wiley +1 more source
Colonic atresia in a newborn. Case Report
Introduction: Colonic atresia is the least common type of intestinal atresia; however, it must be suspected in patients with partial or complete intestinal obstruction, failure to pass meconium, vomit and abdominal distension.
Diego Armando Montenegro Pinzon +2 more
doaj +1 more source
Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno +7 more
wiley +1 more source
ABSTRACT Liver transplantation (LT) is the standard treatment for end‐stage liver disease, yet the gap between the demand for organs and their availability is widening. In Taiwan, the scarcity of deceased donor organs highlights the need for optimized utilization strategies.
Jie‐Lan Jhang +11 more
wiley +1 more source
Predictive factors at birth of the severity of gastroschisis. [PDF]
To establish children born with gastroschisis (GS). We performed a retrospective study covering the period from January 2000 to December 2007. The following variables were analyzed for each child: Weight, sex, apgar, perforations, atresia, volvulus ...
Ballabeni, P. +4 more
core +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Management of jejunoileal atresias: an experience at eastern Nepal
Background Intestinal atresia is a common cause of neonatal intestinal obstruction, and management of this disease in limited setup of a developing country is very difficult.
Poudel Prakash +5 more
doaj +1 more source
The Current Status of Liver Transplantation. [PDF]
More than thirty patients have now undergone liver transplantation in Denver, some more than once, and survivals of up to two and a half years have been achieved. Through this and other experience it has been learned that graft viability is more critical
Starzl, Thomas E
core +1 more source

