The needle study: Machine learning as a new method for case‐finding in celiac disease
Abstract Objectives Despite a well‐defined diagnostic work‐up, uncertainties persist regarding celiac disease (CeD) detection strategies in the general population. Machine learning (ML) algorithms offer promise in aiding medical decision‐making on clinical data.
Chiara Maria Trovato +9 more
wiley +1 more source
The utility of whole exome sequencing in diagnosing Wilson disease: A case report
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
Association of PD-1 gene polymorphisms and serum soluble PD-1 levels with type 1 diabetes mellitus susceptibility in a Chinese Han cohort: a case-control study. [PDF]
Zhao R +5 more
europepmc +1 more source
Successful Treatment of Severe Adult Linear IgA Dermatosis Using Dupilumab
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 +7 more
wiley +1 more source
Natural Anti-NMDAR1 autoantibodies associate with slowed decline of cognitive functions in Alzheimer's diseases. [PDF]
Zhou X.
europepmc +1 more source
Nephrogenic Systemic Fibrosis: A Rare Contemporary Case After a Decade of Declining Incidence
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
Feasibility and performance of minimal-volume capillary blood screening for type 1 diabetes and coeliac disease autoantibodies across all age groups: the UNISCREEN population study. [PDF]
Marzinotto I +16 more
europepmc +1 more source

