Neonatal screening for congenital hypothyroidism in an Italian Centre: a 5-years real-life retrospective study.

INTRODUCTION: Congenital hypothyroidism is an endocrine disease with a significant incidence in the general population (1:2000-1:3000 newborns in Italy) and a different geographical distribution, partially explained by endemic iodine deficiency, genetic traits and autoimmune thyroid diseases. OBJECTIVES: Aims of this study are: to evaluate the incidence of positive neonatal blood spot screening for CH in western Sicily, identified by the screening centre of the Children Hospital "G. Di Cristina", ARNAS, Palermo; to evaluate the impact of a lower TSH cutoff in the neonatal blood spot screening for CH. MATERIALS AND METHODS: The TSH threshold of the neonatal screening was established as ≥6 mU/L of whole blood. We analysed the screening centre data in the period January 2013-April 2018, for a total number of 85.373 babies (45.7% males; 54.3% females). RESULTS: 4.082 Babies (4.8%) required a second screening. Among these, 372 (0.44%) were out of range. The diagnosis of congenital hypothyroidism (CH) was confirmed in 182 babies (0.21%). 77/372 newborns (20.7%) with confirmed high TSH levels showed whole blood TSH levels ≥6 - < 7 mU/L. In synthesis, 48.9% of the out of range re-testing had a confirmed diagnosis of CH. CONCLUSION: The reduction of TSH cutoff to 6 mU/L allowed to identify 77/372 neonates (20.7%) with confirmed out of range TSH, otherwise not recruited by the previously employed TSH cutoff.

Early Treatment of Systemic Juvenile Idiopathic Arthritis with Canakinumab and Complete Remission After 2 Years of Treatment Suspension: Case Report of an Adolescent Girl.

Systemic juvenile idiopathic arthritis (sJIA) is an autoinflammatory disease characterised by fever and arthritis. We describe the case of a 14-year-old girl hospitalised with fever associated with rash, myalgia, arthralgia and polyarticular involvement. Examinations revealed increased levels of C-reactive protein, erythrocyte sedimentation rate, ferritin, triglycerides, leukocytes, neutrophils, lactate dehydrogenase, fibrinogen, aspartate aminotransferase (AST), alanine aminotransferase (ALT) and γ-glutamyl transferase (GGT). Bone marrow biopsy showed polyclonal leukocyte activation. A genetic study revealed a heterozygous mutation of the MEFV gene, c.442G>C (E148Q), which is typical of familial Mediterranean fever. However, the genetic pattern was not associated with a history of recurrent fever, aphthous ulcers of the mouth, abdominal pain, arthralgia and rash. Therefore, a diagnosis of sJIA was made. The patient did not respond to non-steroidal anti-inflammatory drugs. Corticosteroids improved biochemical examinations; however, AST, ALT, GGT and glycaemia remained elevated and adverse effects of corticosteroid treatment became evident and therefore corticosteroids were withdrawn. Canakinumab (150 mg/4 weeks subcutaneously) was initiated. Biochemical data returned to normal values and clinical symptoms resolved. After 2.5 years of canakinumab treatment, complete disease remission allowed the prolongation of intervals between doses. When the intervals were longer than 10 weeks we discontinued the treatment. The patient is still in remission 2 years after canakinumab withdrawal.

Idiopathic Seidlmayer's Purpura: A Case Report.

Acute hemorrhagic edema of infancy (AHEI) was considered a rare form of Henoch-Schönlein purpura; however, it is now regarded as an independent disease typically involving patients aged 4-24 months. The authors describe the clinical case of a toddler aged 8 months, with skin erythematous pomphoid lesions, treated at home with topical steroids without benefits. The appearance of new lesions and the worsening of the previous skin signs induced the parents to drive the child to the hospital. The medical history revealed the administration of a vaccine dose 2 months before.