Re-comparing of three different epidemic seasons of bronchiolitis: different prophylaxis approaches.

During the last epidemic season of bronchiolitis (S2, years 2016-2017) we performed a single Centre analysis in inborn infant of 30+ 0-32+ 6 gestational age and age < 12 months who did not receive prophylaxis with palivizumab (PLV), in light of the current AIFA (Italian Drug Agency) guidelines restricting the time of the prophylaxis to those born < 30 weeks of gestational age. During that epidemic season, we observed a rising trend of bronchiolitis-related hospitalization and an increased rate of mechanical ventilation in preterm child compared to the previous one (S1, years 2015-2016) during which infants of this same gestational age received palivizumab (PLV) prophylaxis, according to the 2015 Italian Guidelines.In light of the revised AIFA guidelines (November 2017), allowing once again prophylaxis with PLV in infants of > 30 weeks gestational age, we decided to repeat our observation during the last epidemic season (S3, years 2017-2018), in order to compare ours infants of 30+ 0-32+ 6 gestational age with preterm of the same gestational age born in our unit in the previous seasons (S1 and S2), to evaluate the clinical impact of the different prophylaxis approaches.The new observation confirmed the clinical efficacy of PLV in this delicate group of newborns in preventing almost completely new episodes of bronchiolitis. Of the 6 newborns who developed bronchiolitis, 4 had received only a single dose of PLV, providing suboptimal protection, before the onset of bronchiolitis; furthermore 3 developed a mild form allowing to be treated at home.

Comparing of two different epidemic seasons of bronchiolitis.

Acute bronchiolitis is the most common cause of hospitalizations in infants < 12 months of age and preventive efforts remain the most important strategy to date. Recently prophylaxis with palivizumab (PLV) was limited to preterm infants with < 29 weeks gestational age (wGA).We performed a single center analysis in preterm infants (GA between 30 and 32 weeks) and age < 12 months to compare prophylaxis with PLV and frequency and characteristics of bronchiolitis and bronchiolitis-related hospitalization in two consecutive epidemic seasons (S1 vs S2).We found a rising trend in rate of bronchiolitis and bronchiolitis-related hospitalization in S1 vs S2. Among hospitalization, we found an increased morbidity with an increase in the rate of mechanical ventilation in S2. Additionally, hospitalization occurred in subjects with younger chronological age in S2 compared with S1.Our result cannot be generalized because deriving from a single Center and further evaluation on wider simple size are warranted, but it suggests an increase in the incidence, gravity and precocity of bronchiolitis in 29-32 wGE preterm infants with the change in National guidelines for prophylaxis.

Spinal ependymoma in a patient with Kabuki syndrome: a case report.

BACKGROUND: Kabuki syndrome is a rare disorder characterized by the association of mental retardation and postnatal growth deficiency with distinctive facial appearance, skeletal anomalies, cardiac and renal malformation. Two causative genes have been identified in patients with Kabuki syndrome. Mutation of KMT2D (MLL2) was identified in 55-80% of patients, while 9-14% of KMT2D negative patients have mutation in KDM6A gene. So far, few tumors have been reported in patients with Kabuki syndrome. We describe the first case of a patient with spinal ependymoma and Kabuki syndrome. CASE PRESENTATION: A 23 years old girl followed at our Center for KMT2D mutated Kabuki syndrome since she was 4 years old presented with acute lumbar pain and intermittent tactile hyposthenia of the feet. Spine magnetic resonance revealed a lumbar endocanalar mass. She underwent surgical resection of the lesion and histologic examination showed a tanycytic ependymoma (WHO grade II). CONCLUSION: Kabuki syndrome is not considered a cancer predisposition syndrome. Nonetheless, a number of tumors have been reported in patients with Kabuki syndrome. Spinal ependymoma is a rare disease in the pediatric and young adult population. Whereas NF2 mutations are frequently associated to ependymoma such an association has never been described in Kabuki syndrome. To our knowledge this is the first case of ependymoma in a KMT2D mutated Kabuki syndrome patient. Despite KMT2D role in cancer has previously been described, no genetic data are available for previously reported Kabuki syndrome patients with tumors. Nonetheless, the association of two rare diseases raises the suspicion for a common determinant.