Results 131 to 140 of about 36,320 (252)
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab +5 more
wiley +1 more source
Megaesophagus in congenital diaphragmatic hernia
, 2005 A newborn with megaesophagus associated with a left sided congenital diaphragmatic hernia is reported. This is an under recognized condition associated with herniation of the stomach into the chest and results in chronic morbidity with impairment of ...
J. S. Mohammed +4 more
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Targeting Myostatin for Sustainable Meat Production: Insights From Multiple Species
Animal Genetics, Volume 57, Issue 3, June 2026.ABSTRACT Myostatin gene (MSTN), a TGF‐β superfamily member, negatively regulates skeletal muscle growth, positioning it as a prime genetic target for enhancing livestock meat production. This review synthesizes evidence from 1979 to 2025 on MSTN mutations across cattle, pigs, poultry, sheep, goats, and rabbits, emphasising impacts on yield, quality ...
Chiara Santomassimo +9 more
wiley +1 more source
Diagnostic Pitfalls in Congenital Right Diaphragmatic Hernia
, 2008 Congenital diaphragmatic hernia (CDH) is a rare disease of newborns. Right-sided diaphragmatic hernia is even rarer. The clinical and radiological presentations, which are well documented in left-sided diaphragmatic hernia, are variable in right-sided ...
HSIEH, WU-SHIUN, 謝武勳
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Clinical Case Reports, Volume 14, Issue 6, June 2026.ABSTRACT Trapped fourth ventricle (TFV) is a rare, serious complication of ventriculoperitoneal (VP) shunting that can mimic posterior fossa tumors and cause life‐threatening brainstem compression. We report the case of a 7‐year‐old boy with a history of a VP shunt for post‐traumatic hydrocephalus who presented with progressive drowsiness and gait ...
Muhammad Hamza +8 more
wiley +1 more source
Primary Petit's Triangle Hernia With Bowel Strangulation: Management in a Resource‐Limited Setting
Clinical Case Reports, Volume 14, Issue 6, June 2026.ABSTRACT Lumbar hernias are rare surgical entities that may present asymptomatically or with complications such as obstruction and strangulation. We report a case of a 45‐year‐old woman who presented to the emergency department with a painful, irreducible swelling in the right lumbar region accompanied by vomiting, abdominal pain, and obstipation ...
Biruk Umer Mohammed +4 more
wiley +1 more source
Epilepsia, Volume 67, Issue 6, Page 2836-2844, June 2026.Abstract Objective To assess long‐term safety of antiseizure medication (ASM) discontinuation after resolution of acute provoked neonatal seizures and prior to hospital discharge. Methods Prospective, observational, comparative effectiveness cohort study of neonates with acute provoked seizures born from July 2015 to March 2018, and followed until ...
Hannah C. Glass +16 more
wiley +1 more source
iNew Medicine, Volume 2, Issue 2, June 2026.This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen +10 more
wiley +1 more source
Controversies Surrounding Critical‐Size Defects: Influence of Age and Biological Characteristics
Journal of Biomedical Materials Research Part B: Applied Biomaterials, Volume 114, Issue 6, June 2026.ABSTRACT Critical‐size defects (CSDs) in craniofacial reconstruction refer to osseous gaps that fail to heal spontaneously, increasing the risk of neurological impairment and craniofacial dysmorphology. Despite decades of investigation, controversy still exists surrounding the definition of CSDs, with criteria varying across species, experimental ...
Andrew Nordlund +7 more
wiley +1 more source