A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.

Background: De novo pathogenic variants in the DDX3X gene are reported to account for 1-3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation, which includes neurological and behavioral defects, and abnormal brain MRIs.

Case Presentation: We report a 10-year-old girl affected by delayed psychomotor development, delayed myelination, and polymicrogyria (PMG).

Upper Respiratory Tract Microbiome and Otitis Media Intertalk: Lessons from the Literature.

Otitis media (OM) is one of the most common diseases occurring during childhood. Microbiological investigations concerning this topic have been primarily focused on the four classical otopathogens (, , and ) mainly because most of the studies have been conducted with culture-dependent methods. In recent years, the introduction of culture-independent techniques has allowed high-throughput investigation of entire bacterial communities, leading to a better comprehension of the role of resident flora in health and disease.

Incidental lowering of otitis-media complaints in otitis-prone children during COVID-19 pandemic: not all evil comes to hurt.

Given COVID-19 pandemic periodic outpatient assessment of otitis-prone children regularly followed at our tertiary outpatient clinic of upper respiratory tract infections was discontinued since 9 March. In order to avoid leaving the patients to themselves just during the winter months, which are the most critical ones for these children, we kept in touch with the families of 102 children (mean age 41.4 ± 14.

A randomized, placebo-controlled, double-blinded, single-centre, phase IV trial to assess the efficacy and safety of OM-85 in children suffering from recurrent respiratory tract infections.

Background: Over many years, OM-85, a lysate of 21 common bacterial respiratory pathogens, has been demonstrated to prevent respiratory recurrences in children. However, further studies are needed to explore the true importance of OM-85 in the prevention of respiratory tract infections (RTIs) in children. This study was planned to further contribute to the evaluation of the role played by OM-85 in prevention of recurrent RTIs in children.

Otogenic temporomandibular septic arthritis in a child: a case report and a review of the literature.

Background: Acute otitis media is one of the most common infectious diseases in the paediatric age and although its complications such as acute mastoiditis have become rare thanks to improvements in therapeutic approaches, possible serious complications such as septic arthritis of the temporomandibular joint may develop. A prompt diagnosis and adequate treatment are essential to achieving the best outcome and avoiding serious sequelae. We describe a case occurring in a previously healthy 6-year-old female and review the literature currently available on this topic.

Oligonucleotide Array-based Comparative Genomic Hybridization Approach in Hematologic Malignancies With Normal/Failed Conventional Cytogenetics and Fluorescent In Situ Hybridization.

Oligonucleotide array-based comparative genomic hybridization (oaCGH) was used to investigate 60 cases of hematologic malignancies, mainly acute myeloid leukemias and myelodysplastic syndromes, in order to evaluate its sensitivity and specificity and to search for genomic alterations undetected by previous investigation with conventional cytogenetics (CC) and fluorescent in situ hybridization (FISH). On the basis of CC and FISH results, we subdivided the series into group A (36 cases with a normal karyotype after CC and/or FISH testing) and group B (24 cases with anomalies detected by CC and/or FISH). oaCGH did not show alterations in 21 cases of the group A (58.