Results 61 to 70 of about 42,294 (231)

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

open access: yesJPGN 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   +2 more
wiley   +1 more source

Relationship between autoimmune thyroid antibodies and anti-nuclear antibodies in general patients

open access: yesFrontiers in Endocrinology
BackgroundThere is no doubt that both Hashimoto thyroiditis and Graves’ disease are autoimmune thyroid diseases (AITDs), but the relationship between anti-nuclear antibody (ANA) and AITDs is poorly studied.
Yi Ruan   +11 more
doaj   +1 more source

Fator antinúcleo na dermatologia Antinuclear factor in dermatology

open access: yesAnais Brasileiros de Dermatologia, 2005
Trata-se de artigo de revisão e atualização sobre a pesquisa dos anticorpos antinucleares, em especial do fator antinúcleo, em que são abordados os aspectos históricos, epidemiológicos, fisiopatogenia, métodos de identificação, suas especificidades e ...
Artur Antônio Duarte
doaj   +1 more source

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

open access: yesJPGN 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   +4 more
wiley   +1 more source

Unusual acute lupus hemophagocytic syndrome – a test of diagnostic criteria: a case report

open access: yesJournal of Medical Case Reports, 2017
Background Hemophagocytic lymphohistiocytosis is an aggressive life-threatening syndrome of excessive immune activation. Hemophagocytic lymphohistiocytosis due to systemic lupus erythematosus is described as acute lupus hemophagocytic syndrome.
Wijetunga Mudalige Udai Akalanka Wijetunga   +3 more
doaj   +1 more source

A hepatic enigma: Pediatric presentation of primary biliary cholangitis

open access: yesJPGN Reports, EarlyView.
Abstract Primary biliary cholangitis (PBC) is a chronic autoimmune condition characterized by destruction of intrahepatic bile ducts, leading to fibrosis and cirrhosis of the liver. It is an extremely rare pediatric disease with very few pediatric cases reported to date. Here, we report the case of a 14‐year‐old female who presented with elevated liver
Sindhura Kasturi   +3 more
wiley   +1 more source

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

open access: yesJEADV 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   +5 more
wiley   +1 more source

Estimation of sensitivity and specificity of antinuclear antibody by automated indirect immunofluorescence and enzyme-linked immunoassay [PDF]

open access: yesMedical Laboratory Journal
Background: Immunofluorescence and serology analysis are the most common laboratory methods for diagnosing antinuclear antibodies in autoimmune diseases and are paramount for screening and therapeutic purposes. This study aims to estimate the sensitivity
Mohammadreza Sheikh Sajjadieh   +2 more
doaj  

Antinuclear antibodies in COVID 19

open access: yesClinical and Translational Science, 2021
Paolo Muratori   +3 more
doaj   +1 more source

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