Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants-Case Report.

Wolcott-Rallison syndrome is a rare cause of permanent neonatal diabetes mellitus caused by mutations in the eukaryotic translation initiation factor 2 alpha kinase 3 gene (EIF2AK3). Individuals affected by this disorder have severe hyperglycemia, pancreatic failure, and bone abnormalities and are prone to severe and life-threatening episodes of liver failure. This report illustrates the case of a 2-month-old infant with extreme hyperglycemia and severe diabetic ketoacidosis.

Primary complement and antibody deficiencies in autoimmune rheumatologic diseases with juvenile onset: a prospective study at two centers.

Background: Our aim was to investigate the prevalence and clinical relevance of inherited complement and antibody deficiency states in a large series of patients with various autoimmune rheumatologic diseases (ARD) with juvenile onset.

Methods: A total number of 117 consecutive patients from 2 tertiary referral hospitals were included in the study. All patients underwent genetic screening for type I C2 deficiency and C4 allotyping.

Evaluation of anti-cyclic citrullinated peptide antibodies may be beneficial in RF-negative juvenile idiopathic arthritis patients.

Despite the high diagnostic and prognostic performance in adult rheumatoid arthritis, the role of antibodies to cyclic citrullinated peptide (anti-CCP) in juvenile idiopathic arthritis (JIA) is controversial. Occurrence of anti-CCP was mainly seen in rheumatoid factor (RF)-positive polyarthritis patients. In the present study, our aim was to investigate the prevalence and significance of anti-CCP for subjects with JIA in our population.

Relation of interleukin-6, TNF-alpha and interleukin-1alpha with disease activity and severity in juvenile idiopathic arthritis patients.

Background: Evaluation of disease activity in children with Juvenile Idiopathic Arthritis (JIA) is primarily based on clinical examination and conventional parameters of inflammation. But, in daily clinical practice, these two findings often fail to be in accord, making therapeutic decisions difficult. The aim of our research was to evaluate the potential usefulness of IL-6, IL-1alpha and TNF-alpha in monitoring disease activity and severity in JIA.