Results 231 to 240 of about 159,852 (315)

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

Paraneoplastic Motor Neuropathy in Nodular Sclerosis Hodgkin's Lymphoma: Case Report. [PDF]

Case Rep Hematol
Menon J, Rehbein T, Reagan P, Casulo C.
europepmc   +1 more source

Successful Treatment of Severe Adult Linear IgA Dermatosis Using Dupilumab

JEADV Clinical Practice, EarlyView.
ABSTRACT Linear IgA dermatosis (LAD) is a rare autoimmune subepidermal bullous dermatosis, characterised by the presence of erythematous vesiculobullous lesions arranged in rosettes or herpetiform clusters. The standard treatment involves the administration of dapsone, followed by sulfasalazine, and general corticosteroid therapy, often in combination ...
Célia Delesalle, Claire Abasq‐Thomas, Claire Bocciarelli, Amélie Bourhis, Marina Alexandre, Belen Eguia, Laurent Misery, Numa Deydier   +7 more
wiley   +1 more source

Endocrine Autoimmunity and Inflammatory Signatures in Pediatric Celiac Disease: Context-Dependent Patterns. [PDF]

Diagnostics (Basel)
Greco M, Mirabelli M, Misiti R, Dragone F, Donato A, Casella D, Torchia A, Concolino D, Brunetti A, Foti DP.   +9 more
europepmc   +1 more source

Anti-nephrin autoantibodies in post-transplant recurrent focal segmental glomerulosclerosis: diagnostic advances and future directions. [PDF]

Clin Exp Nephrol
Shirai Y, Hattori M.
europepmc   +1 more source

Nephrogenic Systemic Fibrosis: A Rare Contemporary Case After a Decade of Declining Incidence

JEADV Clinical Practice, EarlyView.
ABSTRACT Nephrogenic systemic fibrosis (NSF) is a rare fibrosing disorder associated with exposure to gadolinium‐based contrast agents in patients with renal impairment. Although its incidence has markedly declined since the restriction of high‐risk linear gadolinium agents, sporadic cases may still occur.
Marta Sánchez Díaz, Alberto Andamoyo Castañeda, Pedro José Navarro Guillamón, Elena Gallego Domínguez, Jorge Alonso Suárez Pérez, Enrique Herrera Acosta   +5 more
wiley   +1 more source

TRIM Expression and Its Association With Disease Activity in Systemic Lupus Erythematosus

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with diverse manifestations, including rash, arthritis, and nephritis. Although autoantibodies are a key feature of SLE, their levels often poorly reflect disease severity, suggesting the involvement of additional contributing factors.
Ling‐Ying Lu, Ling‐Jung Yen, Hui‐Ling Hsia, Zi‐Xeng Weng, Chi‐Hsiang Chung, Paul Wei‐Che Hsu, Chih‐Wei Chiu, Wu‐Chien Chien, Tsung‐Hsien Chang   +8 more
wiley   +1 more source

Differential associations of IgG-aFcεRI and IgG-aIgE autoantibodies with clinical phenotypes of type IIb chronic spontaneous urticaria. [PDF]

World Allergy Organ J
Lapiņa L, Frischbutter S, Mohammad J, Ziedone G, Kurjāne N.   +4 more
europepmc   +1 more source

Intensive Dietary and Activity Counselling (IDAC) study: a randomised trial following infants genetically susceptible to type 1 diabetes to prevent β-cell dysfunction and islet autoimmunity - a study protocol. [PDF]

BMJ Open
Aronsson CA, Hummel S, Eriksson Hallström E, Gudmundsson T, Maziarz M, Elding Larsson H.   +5 more
europepmc   +1 more source

Proteomics of Nitrotyrosine: Integrating Mass Spectrometry and Immunodetection in Redox‐Driven Pathology

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Nitrooxidative stress, driven by excess reactive nitrogen species like peroxynitrite, contributes to the pathogenesis of many chronic diseases. Among its molecular footprints, 3‐nitrotyrosine (3NT) has emerged as a biologically relevant marker of protein nitration.
Brîndușa Alina Petre
wiley   +1 more source