Results 101 to 110 of about 22,915 (313)

Atresia jejuno-ileal: análise de 47 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 ...
Bianchini, Flávio
core  

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

open access: yesPaediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman   +23 more
wiley   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato   +2 more
wiley   +1 more source

Heterotopic gastric mucosa and intestinal atresia in a neonate

open access: green, 2021
Rachel Thompson   +3 more
openalex   +2 more sources

Progression and topographic subtypes of Terrien marginal degeneration

open access: yesActa Ophthalmologica, Volume 104, Issue 1, Page 33-43, February 2026.
Abstract Purpose To report long‐term outcomes and to search for immunological and genetic risk factors in Terrien marginal degeneration (TMD). Methods Retrospective, in part prospective, hospital‐based longitudinal follow‐up study of 32 eyes of 16 Finnish patients from 2012 to 2023. Median follow‐up was 7.3 years (range, 0.3–15.2).
Minna Ruutila   +8 more
wiley   +1 more source

A Neonatal Nurse‐Controlled Model of Analgesia to Manage Post‐Operative Pain in the Surgical Neonate: A Pilot Randomised Controlled Trial

open access: yesJournal of Advanced Nursing, Volume 82, Issue 2, Page 1725-1736, February 2026.
ABSTRACT Aim To test the feasibility and acceptability of a newly developed model of neonatal nurse‐controlled analgesia to manage pain in the post‐operative infant. Design The study utilised a single‐centre two‐arm parallel, unblinded randomised controlled external pilot trial design.
Renee Muirhead   +5 more
wiley   +1 more source

“Prevalencia de malformaciones congénitas gastrointestinales en el Hospital Materno Perinatal Mónica Pretelini Sáenz durante el periodo de 2010 a 2015” [PDF]

open access: yes, 2017
I. RESUMEN INTRODUCCIÓN: Las malformaciones congénitas suelen ser causadas por alteraciones en el desarrollo morfológico, estructural, funcional o molecular del embrión, generando repercusiones tanto estéticas como funcionales con alteraciones ...
GONZÁLEZ OCAMPO, NURI   +2 more
core  

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 77-83, January 2026.
ABSTRACT Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of
Shintaro Nemoto   +5 more
wiley   +1 more source

Ileal bile acid transporter inhibitors in Alagille syndrome and Progressive Familial Intrahepatic Cholestasis: A systematic review into dose–response

open access: yesBritish Journal of Clinical Pharmacology, Volume 92, Issue 1, Page 119-135, January 2026.
Ileal bile acid transporter inhibitors (IBATi), including maralixibat and odevixibat, are a novel approach to the treatment of paediatric cholestatic liver diseases, such as Alagille syndrome (ALGS) and different forms of progressive familial intrahepatic cholestasis (PFIC).
Alise D. E. de Groot   +5 more
wiley   +1 more source

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