Results 81 to 90 of about 18,119 (214)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Feeding Experiences Among Caregivers of Children With Down Syndrome in Rwanda: A Qualitative Exploratory Study

open access: yesPublic Health Challenges, Volume 5, Issue 2, June 2026.
In Rwanda, Caregivers of children with Down Syndrome face multiple feeding challenges, like development delays and physiological changes of their children, financial limitations, and insufficient partner support, they adapt via increasing frequency meal, time intensive care which promote bonds through love and faith, Additionally They recommend Health ...
Joselyne Rugema   +4 more
wiley   +1 more source

Atresia do esôfago - análise de 88 casos. [PDF]

open access: yes, 2002
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Lauriano, Giórgia Coelho
core  

Maternal Fish Intake in the Year Prior to Conception and Birth Defects, National Birth Defects Prevention Study, 1997–2011

open access: yesBirth Defects Research, Volume 118, Issue 5, May 2026.
ABSTRACT Background Epidemiologic data on the association between maternal fish intake and birth defects are sparse. Our objective was to assess associations between maternal fish intake and 52 different birth defects, most of which have not been assessed previously.
Dorothy Kim Waller   +10 more
wiley   +1 more source

Sentinel events in pediatric hepatology: A pilot simulation curriculum

open access: yesJPGN Reports, Volume 7, Issue 2, Page 332-339, May 2026.
Abstract Objectives Sentinel hepatology events require robust prior experience to accurately diagnose and manage. Given the rarity of complex pediatric liver disease, gastroenterology (GI) fellows do not uniformly get exposure to these patients.
Anne Lyon   +7 more
wiley   +1 more source

Diagnostic dilemma of cystic biliary atresia: A series of two cases and brief review of the diagnostic modalities

open access: yesJPGN Reports, Volume 7, Issue 2, Page 355-361, May 2026.
Abstract Cystic biliary atresia (CBA) is a rare variant of biliary atresia that closely resembles choledochal cyst (CC), complicating diagnosis and potentially delaying critical surgical intervention. We report two cases of CBA that were difficult to diagnose.
Hamza Hassan Khan   +2 more
wiley   +1 more source

Preferential associated anomalies in 818 cases of microtia in South america [PDF]

open access: yes, 2013
The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for
Castilla, Eduardo Enrique   +5 more
core   +3 more sources

Perioperative Care for Pediatric Patients Undergoing Lung Surgery: Retrospective Single Center Review

open access: yesPediatric Anesthesia, Volume 36, Issue 5, Page 520-527, May 2026.
ABSTRACT Background Procedures involving lung surgery in the pediatric population are relatively uncommon and tend to be centralized in a limited number of institutions. Anesthesia literature is also sparse. Aims To have a clear overview of frequency, underlying pathologies, ICU and hospital stay, anesthetic techniques, one lung ventilation, and ...
Rianne P. Wauters   +2 more
wiley   +1 more source

Esophageal Replacement for Long-Gap Esophageal Atresia in a Resource-Limited Setting

open access: yesThe Annals of African Surgery, 2015
The management of esophageal atresia in a resource-limited environment is plagued with challenges that often lead to poor outcome. The diagnosis and management of babies with long-gap esophageal atresia adds a new dimension to these challenges. We report
Saula PW, Kuremu RT
doaj  

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