Results 101 to 110 of about 107,589 (249)

Itching for a diagnosis: Dysesthesias as an atypical presentation of Wilson disease in an adolescent—Case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15‐year‐old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema.
Tierra L. R. Mosher, John Hicks, Krupa R. Mysore   +2 more
wiley   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Refractory Eczema as a Presenting Feature of Common Variable Immunodeficiency

JEADV Clinical Practice, EarlyView.
ABSTRACT Common variable immunodeficiency (CVID) is the most prevalent symptomatic inborn error of immunity (IEI) in adults. It presents with recurrent infections and non‐infectious complications, including autoimmunity, lymphoproliferation and dermatitis.
Mercedes Sanchez‐Diaz, Lars Matthies, Andrea Vanegas Ramirez   +2 more
wiley   +1 more source

Epidemiology, comorbidities, treatments and outcomes of autoimmune liver diseases: A French nationwide study

JHEP Reports
Background & Aims: The epidemiology, clinical management, and prognosis of autoimmune liver diseases (AILDs) – including autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC) – vary according to ...
Christophe Corpechot, Pierre Hornus, Mallory Cals, Pierre Rinder, Théo Marcille, Amina Malek, Karima Ben Belkacem, Farid Gaouar, Yasmina Chabane, Pierre-Antoine Corret, Paola Squarzoni, Pierre-Antoine Soret, Sara Lemoinne, Olivier Chazouillères, Angela Leburgue   +14 more
doaj   +1 more source

Paradoxical Alopecia Areata Induced by IL‐17 and IL‐23 Inhibitors: A Systematic Review

JEADV Clinical Practice, EarlyView.
This systematic review identifies consistent clinical patterns of alopecia areata associated with IL‐17 and IL‐23 inhibitors, most frequently involving secukinumab and ustekinumab. Disease severity varied widely, and management often required biologic discontinuation or therapeutic switching.
Isabella Kamholtz, Simonetta I. Gaumond, Joaquin J. Jimenez   +2 more
wiley   +1 more source

Acute Hepatitis A-Induced Autoimmune Hepatitis: A Case Report

Annals of Hepatology
Introduction and objectives: Autoimmune hepatitis is a chronic immune-mediated inflammatory disease characterized by hypergammaglobulinemia, the presence of autoantibodies and histologically lymphoplasmacytic portal inflammation (interphase hepatitis).1 ...
Brenda N. Loza-Hernández, Héctor M. Herrera-Martínez, Erika G. Salgado-Parra, Arturo-Rodríguez Guajardo, Violeta López-Gutierrez, Mauricio Old-Morales   +5 more
doaj   +1 more source

Nail Lichen Planus in Children ‐ Epidemiology, Pathogenesis, Clinical Presentation, and Treatment

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail lichen planus (NLP) is a chronic inflammatory disorder that, while rare in children compared to adults, represents a significant cause of pediatric nail dystrophy that requires early recognition to prevent permanent scarring and nail loss.
Francesca Pampaloni, Matilde Iorizzo
wiley   +1 more source

Myasthenia Gravis and Thymoma

Muscle &Nerve, EarlyView.
ABSTRACT Thymoma is the most common tumor of the anterior mediastinum. Approximately 20%–30% of patients with a thymoma develop myasthenia gravis (MG), and an additional one third may possess positive acetylcholine receptor (AChR) antibodies without MG.
Benjamin Claytor, Lukas Delasos, Daniel P. Raymond, Erik Seroogy, Jason Lempel, Yuebing Li   +5 more
wiley   +1 more source

Current Cell/Organoid and Animal Models for Primary Sclerosing Cholangitis

Portal Hypertension &Cirrhosis, EarlyView.
Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease with limited therapeutic options and a marked risk of progression to biliary fibrosis, cirrhosis, and malignancy. Progress in PSC research has been hindered by the lack of models that faithfully recapitulate the complex biliary microenvironment and disease heterogeneity ...
Qigu Yao, Sheng Cheng, Qiaoling Pan, Jiong Yu, Hongcui Cao   +4 more
wiley   +1 more source

When Fat Goes Astray: Your Liver and Pancreas Get Into Trouble

Portal Hypertension &Cirrhosis, EarlyView.
Metabolic dysfunction‐associated steatotic liver disease (MASLD) and intrapancreatic fat deposition (IPFD) are both common manifestations of ectopic fat accumulation. Although they share multiple risk factors, they also show notable differences in pathological features, standardization of diagnosis, and research maturity.
Yuying Chen, Li Ding, Shan Zhao, Weihong Wang, Jing Zhong, Qiang Yan   +5 more
wiley   +1 more source