Acute graft-versus-host disease (GvHD) remains the second leading cause of death, after disease relapse, in patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT). The medical records of 112 pediatric patients who underwent allo-HSCT from matched unrelated and haploidentical donors were analyzed. Patients were divided into two groups, according to the GvHD prophylactic regimen used. In the control group, GvHD prophylaxis consisted of cyclosporine A (CsA) and methotrexate (MTX) or CsA and mycophenolate mofetil (MMF) at a standard daily dose of 30 mg/kg. All subjects in the study group received tacrolimus (FK506) and MMF. In this group, MMF was subjected to therapeutic drug monitoring (TDM) through mycophenolic acid (MPA) area under the curve AUC_0–12. We found a statistically significant difference in both overall acute GvHD (p < 0.0001) and overall chronic GvHD (p < 0.05) incidence between the study and the control group. The initial daily MMF dose and the age at transplant in the study group proved to be inversely correlated (r = −0.523, p < 0.0001). The children under six years of age required a significantly higher daily MMF dose (p < 0.008). This study showed that pharmacological monitoring of MPA AUC_0–12 concentration allowed a reduction in the incidence of acute and chronic GvHD. MMF showed age-dependent pharmacokinetics due to greater drug clearance in younger children.

The 12-month mortality rate in patients undergoing hematopoietic stem cell transplantation (HSCT) remains high, especially with respect to transplant-related mortality (TRM), which includes mortality due to infection complications through the aplasia phase. The aim of this study was to determine whether the administration of Pentaglobin^® could decrease TRM by lowering sepsis onset or weakening sepsis through the aplasia phase. One hundred and ninety-nine pediatric patients who had undergone HSCT were enrolled in our retrospective study. The patients were divided into two groups: the Pentaglobin group, which had received Pentaglobin^® in addition to the standard antibiotic treatment protocol established for the aplasia phase, and the Control group, which received only the standard treatment. As compared to the control group outcome, Pentaglobin^® led to a significant decrease in the days of temperature increase (p < 0.001) and a reduced infection-related mortality rate (p = 0.04). In addition, the number of antibiotics used to control infections, and the number of antibiotic therapy changes needed following first-line drug failure, were significantly lowered in the Pentaglobin group as compared to the control group (p < 0.0001). With respect to the onset of new infections following the primary infection detected, the Pentaglobin group showed a significant reduction for bacterial events, as compared to the control group (p < 0.03). Pentaglobin^® use in patients undergoing HSCT seems to produce a significant decrease in infection-associated TRM rate.

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

Intramuscular Dexmedetomidine, a Feasible Option for Children With Autism Spectrum Disorders Needing Urgent Procedural Sedation Giorgia Carlone;Andrea Trombetta;Stefano Amoroso;Federico Poropat;Egidio Barbi;Giorgio Cozzi; Pediatric Emergency Care