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Sex differences play a relevant role in cancer susceptibility, incidence and survival. Exploring such differences is difficult because of the close interplay of genetic, epigenetic and hormonal factors. However, a better understanding of the role of such disparities in cancer mechanisms could improve its prevention and therapy. Our study explores how sex differences in pediatric outcomes vary after undergoing first and advanced-line therapy for hematological malignancies. The primary goal was to evaluate if sex differences in pediatric outcomes after first-line therapy persist after allogeneic hematopoietic stem cell transplantation (HSCT). The secondary goal was to analyze sex differences in disease risk at onset and pediatric outcomes after first-line therapy to compare our results with the literature's reported results. Among a total of 485 patients (280 males, 205 females) admitted for hematological malignancies, disease risk at the onset was significantly higher in males (P < .05). One hundred and seventy-four patients (111 males and 63 females) had a high-risk disease requiring HSCT. Before HSCT, all patients underwent myeloablative conditioning, which substantially impaired gonadal function. Although the number of boys undergoing HSCT was almost double that of girls, there were no sex-related differences in overall survival, cancer relapse and complications after HSCT exposure (P > .05). These findings suggest that the existing sex differences in cancer risk ab initio can be somehow flattened by a conditioning regimen, shedding new light on the role of hormonal factors in cancer mechanism and management.

Aim We compared visits to a tertiary level paediatric emergency department (PED) in Italy, during winter 2020-2021, when COVID-19 social distancing measures were in place, with winter 2019-2020. Methods This was a retrospective analysis of an electronic database. We obtained the number of visits and the ages, main complaints, triage codes, discharge diagnoses and outcomes of patients who accessed the PED from the 1 October 2020 to 28 February 2021. These were compared to the same period in 2019-2021. Results Visits fell by 52%, from 10982 in 2019-2020 to 5317 in 2020-2021 (p < 0.0001). The reductions were 52% in neonates, 58% in infants, 53% in toddlers, 61% in preschool children, 48% in school children and 46% in adolescents. Non-urgent and urgent triage codes declined. Respiratory and gastrointestinal infections fell by 72% and 71% respectively. Injuries declined by 42%, mainly among adolescents. Accidental intoxication, psychiatric symptoms and substance or alcohol abuse declined by 24%, 33% and 64%. Hospital admissions reduced by 8% and admissions to intensive care fell by 29%. Conclusion During the first winter of pandemic social distancing visits to an Italian PED fell by 52%, with higher reductions in younger children and infants, and hospital admissions fell by 8%.

Adolescents with mental health disorders are a high-risk population and problems during COVID-19 lockdowns have included increasing, widespread anxiety, fear, anger and uncertainty. Somatic symptom disorder (SSD) is characterised by disproportionate thoughts, feelings and behaviours about physical symptoms associated with the distress and disruption of everyday functioning. SSD accounts for 15-25% of adolescent mental health cases in primary care paediatric settings,3 and 8.6% of non-traumatic adolescent pain in emergency departments.4.

MED13-related disorder is a new neurodevelopmental disorder recently described in literature, which belongs to the group of CDK8-kinase module genes-associated conditions. It is characterized by variable intellectual disability and/or developmental delays, especially in language. Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), eye or vision problems, hypotonia, mild congenital hearth abnormalities and dysmorphisms have been described among individuals with MED13 mutations. We report the case of a 13-year-old girl who received a previous clinical diagnosis of Kabuki syndrome (KS) without mutations in classic KS genes. After a whole exome sequencing (WES) analysis a de novo missense mutation in MED13 (c.C979T; p.Pro327Ser) was found. This variant has been once described in literature as accountable for a novel neurodevelopmental disorder. The aim of this report is to improve clinical delineation of MED13-related condition and to explore differences and similarities between KS spectrum and MED13-related disorders.

We describe the case of an 11-year-old boy affected by chronic granulomatous disease complicated by a Crohn’s like colitis needing prolonged treatment with oral corticosteroids. His therapy for the control of severe oral mucositis was based on topical clobetasol, which did not decrease once the steroids were discontinued. Two years after the oral interruption of the steroids, cushingoid characteristics persisted, the cause of which, after a thorough investigation, was found to be the persistence of the topical clobetasol oral gel. Several studies investigated the efficacy of topical clobetasol for immuno-related mucositis, but little is known about its pharmacokinetics and side effects. In this report, we have reviewed the literature, defining a maximum putative dose of clobetasol mucosal gel to avoid Cushing syndrome.

A 15-year-old boy was admitted with a history of cytopenia (white blood cell count 3.170/μm, platelets 90.000/μm) associated with splenomegaly, found during investigations for recurrent mild jaundice due to Gilbert’s syndrome.He was in good general health, without systemic symptoms; therefore, the leading causes of asymptomatic splenomegaly were excluded. Coagulation, liver tests and abdomen ultrasound (US) were normal, showing a hepatopetal portal flow to the colour-Doppler. There was no sign of haemolysis on haematology investigations. The C reactive protein, immune globulins levels and erythrocyte sedimentation rate were normal, excluding both an infective and an immune regulation disorder. We excluded the haematological malignancy and lymphoproliferative disorders through a peripheral blood smear and a bone marrow biopsy.His history was remarkable for neonatal sepsis, which required umbilical venous catheter during hospitalisation in a neonatal intensive care unit (NICU). The patient follow-up was interrupted for a while, probably due to his good health condition.At age 17 years, the child accessed our emergency department. for a minor trauma to the limbs, and his physical examination was unremarkable, except for the splenomegaly. We repeated the abdomen US, with colour flow Doppler (figure 1).Figure 1B-mode shows 1.4 cm of maximum calibre of portal vein at hilus with slightly perihilar hyperechogenicity; colour and power Doppler US shows preserved hepatopetal flow and PSV of 41 cm/s (normal range 20–40 cm/s). PSV, peak systolic velocity; US, ultrasound.QuestionsWhat is the most likely diagnosis?Portal vein obstructionGaucher diseaseAutoimmune sclerosing cholangitisLeukemic hepatic infiltrationWhat is the gold standard imaging for diagnosis?Abdomen Doppler USContrast-enhanced CTCT without contrastUltrasound-based elastographyHow should this child be managed?Upper gastrointestinal endoscopyBeta-blocker therapyLeft-mesenteric portal vein bypass (Meso-Rex bypass)Transjugular intrahepatic porto-systemic shuntAnswers can be found on page 02.

ObjectiveThis study aims to explore the attitude of adolescents with chronic diseases toward social media exposure, focusing in particular on Facebook.DesignCross-sectional study.SettingAn anonymous semistructured survey was distributed to an Italian hospital-based cohort of adolescents with chronic disease to explore the role of Facebook in their daily life.PatientsWe recruited 212 adolescents (aged between 13 and 24 years) with a diagnosis of inflammatory bowel disease, coeliac disease, diabetes mellitus type 1 and cystic fibrosis.ResultsTwo hundred and seven of the 212 (97.6%) expressed the need of sharing their illness experience with friends, 201 out of 212 (94.8%) usually searched information on the internet to find new therapies and to discover their prognosis. One hundred and forty-nine out of 212 adolescents (70.3%) perceived dependence on their parents as the most negative aspect of having a chronic disease, and 200 out of 212 (94.3%) were looking for friends with the same disease on Facebook. Two hundred and ten out of 212 (99.1%) did not want their doctors or nurse on their social media platforms. During the active disease periods, the time spent with social media increased from an average of 5 to 11 hours.ConclusionsThis descriptive analysis focused on the Facebook impact on chronic disease perception among affected adolescents. It showed that they used to spend an increased amount of time on this platform during disease flare-up and highlighted their wish of keeping doctors and nurses away from their social dimension.