Results 201 to 210 of about 51,855 (253)

JAK Inhibition in PNPT1‐Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial–Immune Crosstalk

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Biallelic pathogenic variants in PNPT1 cause combined oxidative phosphorylation deficiency 13 (COXPD13) (MIM #614932), linking mitochondrial dysfunction to type I interferon (IFN) activation through cytosolic leakage of mitochondrial double‐stranded RNA (mt‐dsRNA).
Dan Ross Brooks, Hyun Yong Koh, Taylor Martin Kerrins, Steven Lang, Emily Bland, Rui Yang, Sarah Kogan Nicholas, Stephanie Jean Sikkink, Stephen Kralik, Christine Eng, Chaya Nautiyal Murali, Seema Lalani, Pilar Lenglet Magoulas, Lisa Emrick, Kristen Sydney Fisher, Fernando Scaglia   +15 more
wiley   +1 more source

Risk factors for pneumonia, hepatic encephalopathy, and acute kidney injury in patients with hepatitis B virus-related acute-on-chronic liver failure. [PDF]

Front Med (Lausanne)
Wei L, Shi W, Yang X, Ma H, Wan H, Zhou X.   +5 more
europepmc   +1 more source

Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Incorporating patient preferences into drug development is crucial, particularly, for rare diseases with significant unmet needs. This study used Best‐Worst Scaling type 2 (BWS‐2) to explore benefit–risk trade‐offs for patients and caregivers in two rare neuromuscular diseases (NMDs), myotonic dystrophy type 1 (DM1), and mitochondrial myopathy
Aura Cecilia Jimenez‐Moreno, Alasdair Blain, Cathy Anne Pinto, Vikas Soekhai, Jennifer Viberg Johansson, Christine Dyer, Kate Adcock, Esther W. de Bekker‐Grob, G. Ardine de Wit, Jane Newman, Gráinne S. Gorman   +10 more
wiley   +1 more source

Risk prediction models for hepatic encephalopathy following TIPS: a systematic review and meta-analysis. [PDF]

Front Med (Lausanne)
Fang Z, Liu Z, Pu Z, Xia Q, Zhang Q, Wang L, Jia P, Tang X.   +7 more
europepmc   +1 more source

Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review

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, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic   +5 more
wiley   +1 more source

Frailty Diagnosed With the Clinical Frailty Scale Stratifies the Risk of Covert and Overt Hepatic Encephalopathy in Patients With Cirrhosis. [PDF]

JGH Open
Unome S, Miwa T, Hirata S, Nakashima S, Nishimura K, Oi M, Aiba M, Imai K, Takai K, Shimizu M.   +9 more
europepmc   +1 more source

COQ2‐Associated Primary Coenzyme Q10 Deficiency Presenting With Proteinuria: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We report a female pediatric patient with compound heterozygous *COQ2* variants (c.368G>A, c.908A>G) presenting PCOQ10D; high‐dose CoQ10 plus enalapril maleate resolved proteinuria and preserved renal function. ABSTRACT Background Primary coenzyme Q10 (CoQ10) deficiency (PCOQ10D) is an autosomal recessive mitochondrial disorder caused by pathogenic ...
Yuqi Yue, Fei Zhao, Qiuxia Chen
wiley   +1 more source

Branched‐Chain Amino and Keto Acids Reduce Hepatocyte Lipid Droplet Size and Number via Distinct Proteomic Pathways

PROTEOMICS, Volume 26, Issue 7, Page 146-157, July 2026.
ABSTRACT Branched‐chain amino acids (BCAA) and their corresponding keto acids (BCKA) have been associated with changes in hepatic lipid metabolism and the resulting alterations in intracellular triglyceride concentrations. In this study, we utilized a previously established hepatocyte model to investigate the impact of BCAA and BCKA supplementation on ...
Jayasimha R. Daddam, Mounica Sura, Edward Kolodziej, Maria Gojcaj, Zheng Zhou   +4 more
wiley   +1 more source

Animal naming test at discharge is associated with hepatic encephalopathy after elective TIPS. [PDF]

JHEP Rep
Jorus M, Sultanik P, Bouzbib C, Mouri S, Kheloufi L, Gasperment M, Weiss N, Roux C, Thabut D, Rudler M.   +9 more
europepmc   +1 more source