Diagnosis

Diagnostic performance of anti-citrullinated protein/peptide antibodies in juvenile idiopathic arthritis

S. Y. Pang, Liu, H. Y., Huang, Y. J., Liu, Y. F., Dai, Y. M., Zeng, P., Zeng, H. S., Pang, S. Y., Liu, H. Y., Huang, Y. J., Liu, Y. F., Dai, Y. M., Zeng, P., and Zeng, H. S., Diagnostic performance of anti-citrullinated protein/peptide antibodies in juvenile idiopathic arthritis, vol. 15, p. -, 2016.

The prevalence rates of anti-citrullinated protein/peptide antibodies (ACPAs) were investigated in a cohort of juvenile idiopathic arthritis (JIA) patients, and their diagnostic performances were compared. ACPAs, including anti-cyclic citrullinated peptide IgG (anti-CCP), anti-CCP IgG/IgA (anti-CCP3.1), citrullinated recombinant rat filaggrin antibodies (CPA), anti-mutated citrullinated vimentin (anti-MCV), and antibodies to citrullinated human IgG-derived peptides (RA/CP), were measured in the sera from 81 JIA patients.

Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype

K. Wang, Li, Y. T., Hou, M., Wang, K., Li, Y. T., and Hou, M., Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype, vol. 15, p. -, 2016.

Angelman syndrome (AS) is a neurogenetic disorder caused by a defect in the expression of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene in chromosome 15. The most common genetic defects include maternal deletions in chromosome 15q11-13; however, paternal uniparental disomy and imprinting defects allow for the identification of mutations in UBE3A in 10% of patients with AS.

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