PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.

Background: PHARC syndrome (MIM:612674) is a rare neurodegenerative disorder characterized by demyelinating polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts (PHARC). The syndrome is caused by mutations in the gene, which encodes αβ-hydrolase domain-containing protein 12 related to endocannabinoid metabolism. PHARC syndrome is one of the rare diseases; so far, only 51 patients have been reported in the literature.

The correlation between pregnancy, disease activity and adverse pregnancy outcomes in patients with systemic lupus erythematosus.

Objective: In this study, our pregnant systemic lupus erythematosus (SLE) cohort, which was under medical surveillance of both our Rheumatology and Obstetrics departments, was analyzed. We intended to determine the effects of pregnancy on disease activity and the correlation between disease flares and adverse pregnancy outcomes.

Methods: One hundred sixty eight pregnancy data involving 136 patients with SLE were examined.

Incidence of multisystem inflammatory syndrome in children and the comorbidity scores in pediatric coronavirus disease 2019 cases.

Background: We aimed to determine the incidence of multisystem inflammatory syndrome in children (MIS-C) in pediatric coronavirus disease 2019 (COVID-19) cases and to define the relationships between the need for hospitalization, the development of MIS-C, and the Charlson Comorbidity Index (CCI) and Pediatric Comorbidity Index (PCI) scores.

Methods: All pediatric COVID-19 cases between March 25, 2020, and December 28, 2020, in the Marmara University Pendik Training and Research Hospital were enrolled. Patients who needed hospitalization were determined.

Antinuclear antibody testing in a Turkish pediatrics clinic: is it always necessary?

Introduction: The term anti-nuclear antibody (ANA) is used to define a large group of autoantibodies which specifically bind to nuclear elements. Although healthy individuals may also have ANA positivity, the measurement of ANA is generally used in the diagnosis of autoimmune disorders. However, various studies have shown that ANA testing may be overused, especially in pediatrics clinics.

Evaluation of subclinical inflammation in familial Mediterranean fever patients: relations with mutation types and attack status: a retrospective study.

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease of childhood and adulthood. Development of systemic amyloidosis and frequent attack influence quality of life and survival. There is sporadic evidence indicating subclinical inflammation in patients with FMF.