Tocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib.

BACKGROUND: Aicardi-Goutières syndrome (AGS) is a rare hereditary early-onset encephalopathy characterized by upregulation of the type I interferon pathway, poorly responsive to conventional immunosuppression. CASE PRESENTATION: We describe a 7-year-old Chinese boy who developed symptoms at the age of 6 months. He presented with a chilblain-like rash, leukopenia, neutropenia, elevated liver enzymesgrowth retardation, microcephaly, elevated acute phase reactants, intracranial calcification and leukodystrophy. At the age of 3 years old, whole-exome sequencing confirmed a de novo heterozygous gain-of-function mutation, c.1016 C > A (p.Ala339Asp), in the IFIH1 gene, and he was diagnosed with AGS7. He was treated with ruxolitinib accompanied by steroids and thalidomide for about four years. The rash, hematological manifestations, and the liver function were all improved, but the erythrocyte sedimentation rate remained consistently elevated until the addition of tocilizumab, a monoclonal antibody against interleukin 6. CONCLUSIONS: Ruxolitinib was not successful in suppressing the inflammatory process, and tocilizumab produced highly encouraging results in reducing the inflammatory reaction of AGS. The study makes a significant contribution to the literature because we may found a potential alternative therapeutic option for AGS.

Factors influencing the occurrence of neonatal procedural pain.

OBJECTIVES: The objective of this study was to describe the occurrence of neonatal procedural pain and explore the factors that influence the frequency of painful procedures. DESIGN: A descriptive prospective epidemiologic study. SETTING: NICU at a general hospital in China. METHODS: A demographic and diagnosis or illness information questionnaire and an occurrence of procedural pain questionnaire specifically designed for this study were used to record the current status of neonatal procedural pain. The neonatal infant pain scale (NIPS) was used to measure pain intensity. A multiple linear regression model was used to explore the factors influencing the frequency of painful procedures. RESULTS: One hundred and twenty neonates experienced a total of 16,840 painful procedures. Each neonate was exposed to a median (IQR) of 66.5(27,154.75) painful procedures during hospitalization and a median (IQR) of 13(11, 19) painful procedures. All 27 different procedures were considered painful, and 70.37% (19/27) of these procedures caused severe pain. Overall, the mean NIPS score of the 27 procedures was 5.04 ± 1.52 with a range from 0 to 7. Respiratory support, age, and length of hospital stay were factors influencing the frequency of painful procedures. CONCLUSIONS: NICU neonates experience pain at a high frequency and intensity during hospitalization. Respiratory support, age, and length of hospital stay were factors influencing the frequency of painful procedures. Strategies are needed to bridge the gap between practice and the evidence-based guidelines.