Results 61 to 70 of about 3,709 (187)
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT Hyperammonemic crisis (HAC) remains a major risk factor for urea cycle disorders (UCD), and practical outpatient predictors are limited. We tested whether short‐term changes in plasma glutamine (ΔGln) and ammonia (ΔNH3) predict HAC and whether effects differ by onset type. In a retrospective cohort (2014–2024) of 18 patients with UCD (neonatal‐
Yasuaki Yasuda +4 more
wiley +1 more source
Adeno-associated virus vector-based gene therapies for pediatric diseases
Pediatrics and Neonatology, 2023 Gene therapy using adeno-associated virus (AAV) is a rapidly developing technology with widespread treatment potential. AAV2 vectors injected directly into the brain by stereotaxic brain surgery have shown good results in treating aromatic l-amino acid ...
Kazuhiro Muramatsu, Shin-ichi Muramatsu
doaj +1 more source
T Cell Exhaustion in Cancer Immunotherapy: Heterogeneity, Mechanisms, and Therapeutic Opportunities
Advanced Science, Volume 13, Issue 35, 24 June 2026.T cell exhaustion limits immunotherapy efficacy. This article delineates its progression from stem‐like to terminally exhausted states, governed by persistent antigen, transcription factors, epigenetics, and metabolism. It maps the exhaustion landscape in the TME and proposes integrated reversal strategies, providing a translational roadmap to overcome
Yang Yu +7 more
wiley +1 more source
Ammonia Detoxification Inhibits Liver Metastasis by Reshaping Hepatic Microenvironment
Advanced Science, Volume 13, Issue 33, 15 June 2026.Liver metastasis diverts aspartate into hyperactive pyrimidine synthesis, disrupting urea cycling and causing pathogenic ammonia accumulation. Ammonia dually reprograms the microenvironment by: (1) activating hepatic stellate cells (HSCs) into pro‐fibrotic metastasis‐associated fibroblasts (MAFs), and (2) suppressing anti‐tumor monocytes/macrophages ...
Sumin Sun +5 more
wiley +1 more source
infection in a patient with ornithine transcarbamylase deficiency and liver transplant
, 2021 Rapidly growing mycobacteria, including Mycobacterium abscessus, have become a common cause of post-procedural infections and are notoriously difficult to diagnose and treat.
Fabrizio V. Galimberti +7 more
core +1 more source
Strict Aerobic Lifestyle and Anaerobic Survival of Bacteria: Inseparable Twins?
Molecular Microbiology, Volume 125, Issue 6, Page 546-551, June 2026.ABSTRACT For many decades the existence of strict aerobic bacteria was part of every textbook. However, considering habitats like soils or surfaces, many of these microorganisms are exposed to drastic changes in oxygen tension. A simple rain shower can change oxygen diffusion rates by a factor of 10.000.
Meina Neumann‐Schaal +2 more
wiley +1 more source
Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency
, 1996 We describe three children with transaminase elevations and hepatic insufficiency who were given the diagnosis of cryptogenic hepatitis after the more common viral and metabolic diseases of the liver had been excluded.
Donati M. A. +3 more
core +1 more source
Self‐Reported Health‐Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Multiple studies have assessed Health‐Related Quality of Life (HRQoL) in children with urea cycle disorders (UCDs); investigations in adults with the same disorders are rarer. Understanding the variables that modify self‐reported HRQoL has become increasingly important as novel treatments are developed, with clinically meaningful endpoints ...
Curtis R. Coughlin II +25 more
wiley +1 more source
Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study
Frontiers in Neurology, 2020 Ornithine transcarbamylase deficiency (OTCD) is the most common form of urea cycle disorder characterized by the presence of hyperammonemia (HA). In patients with OTCD, HA is known to cause impairments in domains of executive function and working memory.
Afrouz A. Anderson +4 more
doaj +1 more source