Results 61 to 70 of about 52,510 (220)

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Lysosomal unesterified cholesterol content correlates with liver cell death in murine Niemann-Pick type C disease

Journal of Lipid Research, 2007
Niemann-Pick type C (NPC) disease is a multisystem disorder resulting from mutations in the NPC1 gene that encodes a protein involved in intracellular cholesterol trafficking. Significant liver dysfunction is frequently seen in patients with this disease.
Eduardo P. Beltroy, Benny Liu, John M. Dietschy, Stephen D. Turley   +3 more
doaj   +1 more source

Coexistence of immunophenotypically normal and aberrant mast cells in patients with clonal mast cell diseases associates with more indolent subtypes and less severe disease characteristics

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract Aberrant antigen expression on mast cells (MCs) is one of the most accurate diagnostic markers for clonal MC diseases (CMCD). Although the coexistence of normal and pathologic MCs is frequently seen, the disease characteristics associated with it have been minimally investigated.
Abdulrazzaq Alheraky, Kees Meijer, Marije Nijk, Saskia K. Klein, Hanneke N. G. Oude Elberink, Ido P. Kema, André B. Mulder   +6 more
wiley   +1 more source

High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia

Frontiers in Pediatrics, 2020
Background: Classical Galactosemia (CG) is a rare autosomal recessive metabolic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene.
Lulu Li, Li Ma, Min Sun, Jiancheng Jiao, Yudong Zhang, Yue Tang, Nan Yang, Yuanyuan Kong   +7 more
doaj   +1 more source

Chlorfenapyr Induces Hepatotoxicity Associated With Oxidative Stress and Mitochondrial Dysfunction Involving Keap1/Nrf2 Signaling

Journal of Applied Toxicology, EarlyView.
ABSTRACT Chlorfenapyr (CHL) is a widely used pyrrole insecticide, but its hepatotoxic effects and underlying mechanisms remain incompletely understood. This study investigated the toxic effects of CHL on rat liver and BRL‐3A hepatocytes and explored the involvement of the Keap1/Nrf2 signaling pathway. Rats were administered CHL (10, 20, or 30 mg/kg) by
Dongquan Zhao, Jia Li, Cheng Li, Hua He, Lipu Deng   +4 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Repeated and preemptive palliative radiotherapy of symptomatic hepatomegaly in a patient with advanced myelofibrosis [PDF]

, 2008
BACKGROUND: Patients with advanced myelofibrosis often suffer from symptomatic extramedullary hematopoiesis in spleen and/or liver. In case of drug-refractory disease splenomegaly is treated surgically, whereas hepatomegaly is palliated by radiotherapy ...
Gmür, J, Riesterer, O, Lütolf, U
core   +1 more source

Impact of cystic fibrosis transmembrane conductance regulator modulator therapies on liver stiffness and liver enzymes: An observational perspective single‐center cohort study

JPGN Reports, EarlyView.
Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano, Elisabetta Augustoni, Antonio Pizzol, Anna Opramolla, Cristina Chiadò, Anna Zagaria, Irene Esposito, Giulia Roberto, Alice Ponte, Andrea Evangelista, Paola Quarello, Michele Pinon, Pier Luigi Calvo   +12 more
wiley   +1 more source

Molecular characterization of autosomal recessive Glycogen storage disease type Ib in a Pakistani family

Khyber Medical University Journal
Objective: To investigate Glycogen storage disease GSD type Ib in a Pakistani family through whole exome sequencing (WES) and Sanger sequencing to identify the genetic mutation and confirm its autosomal recessive inheritance. Methods: This case-control
Zeeshan Nazir, Musharraf Jelani, Naveed Wasif, Fakhar Alam   +3 more
doaj   +1 more source