Results 41 to 50 of about 22,210 (303)

Identifying Key Questions and Challenges in Microchimerism Biology

open access: yesAdvanced Science, EarlyView.
This study identifies key unanswered questions about microchimerism, the presence of cells from one individual living in another. Experts highlight how these cells may affect health, pregnancy, and disease. This study outlines research priorities and challenges in detecting and studying these rare microchimeric cells, aiming to guide future discoveries
Kristine J. Chua   +31 more
wiley   +1 more source

CURRENT ISSUES OF NEWBORN CARE IN SURGICAL DISEASES

open access: yesМедицинский вестник Юга России, 2015
Purpose: to identify the trigger group nosology in newborns, acting on which it is possible to reduce infant mortality and to assess the links between the development of complications and the period from birth to transfer to the surgical ward in ...
T. U. Bykovskaya, M. A. Shishov
doaj   +1 more source

Ileal atresia concurrent with agenesis of the ileocaecal valve and intestinal volvulus in a goat kid [PDF]

open access: yesBulgarian Journal of Veterinary Medicine, 2017
Atresia of the distal ileum concurrent with ileocaecal valve agenesis is one of the rare types of intestinal atresia with very few reports in the literature. We herein present a case of type II distal ileal atresia, ileocaecal valve agenesis and volvulus
R. Kheirandish, J. Tajik
doaj   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff   +8 more
wiley   +1 more source

Liver transplantation in biliary atresia with concomitant hepatoma. [PDF]

open access: yes, 1972
Two cases are reported in which the very infrequently reported association was found of liver cell carcinoma and biliary cirrhosis secondary to congenital biliary atresia.
Giles, G   +5 more
core  

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes   +4 more
wiley   +1 more source

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

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

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

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

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, EarlyView.
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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