THERAPEUTIC APPROACH TO A CHILD WITH ACUTE RESPIRATORY DISTRESS SYNDROME: A REPORT OF TWO CASES

The course of a respiratory disorder in a child may end up in respiratory failure. There are also acute non-respiratory diseases which have a great influence on the respiratory functions and often lead to the acute lung injury and sometimes to the acute respiratory distress syndrome (ARDS). A feature of respiratory function deterioration is changed in the surfactant system. We often see inhibition of its synthesis or damage to its structure. Therapy of children suffering from ARDS should be complex and rapid. Despite many recently published studies explaining the principle of this disorder, the mortality of ARDS is still very high (30-50%). There are several studies documenting successful administration of exogenous surfactant as part of a complex combined therapy of patients with ARDS, which leads to decreased mortality, improved oxygenation, and decreased need for aggressive artificial pulmonary ventilation. The authors of this article present their own experience with administration of exogenous surfactant in therapy of children with ARDS

Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT)

PURPOSE: 47,XXY is often associated with reduced expressive language and literacy skills. This retrospective cross-sectional study investigated risk factors (hormone replacement deficiency, pre-or postnatal diagnosis, and history of family learning disabilities [FLDs]) associated with reading skills in 152 males. METHODS: We analyzed Woodcock Reading Mastery Test scores among 7 prenatally diagnosed male hormone replacement therapy (HRT) groups using analysis of variance along with analysis of variance and 2 postnatally diagnosed male HRT groups (No-T and T) using t tests. Treated prenatally diagnosed males with FLDs were compared with an identically treated prenatal HRT group with no history of FLDs using a t test. RESULTS: In prenatally diagnosed males, significant treatment differences were observed on several reading scales (eg, total reading: χ = 17.96, P = .006), in which the highest modality HRT group (mean [M] =119.87) outperformed the untreated group (M = 99.88). In the postnatal analysis, we observed a significant effect of treatment on basic skills (P = .01). Despite equal HRT status, males with FLDs (M = 105.79) exhibited reduced total reading skills compared with those in the no FLD group (P = 0.0006). CONCLUSION: Our findings in this pilot study reveal that the most optimal reading trajectory is associated with a prenatal diagnosis, absence of FLDs, and the highest modality HRT

The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy

PURPOSE: 49,XXXXY (1:85,000-100,000) is a rare sex chromosome aneuploidy that often presents with complex musculoskeletal abnormalities, decreased cognitive capabilities, speech and language dysfunction, and behavioral complications. Hormonal replacement therapy, or testosterone replacement therapy, is associated with improved neurodevelopmental and behavioral outcomes in males with 49,XXXXY. Two forms of testosterone replacement therapy, early hormonal treatment (EHT) and hormonal booster therapy (HBT), are associated with improved neurodevelopmental and behavioral outcomes in these boys. This study investigates the impact of EHT and HBT on behavioral symptoms in males with 49,XXXXY. METHODS: A total of 59 individuals were divided into 4 groups: 19 no testosterone (no-T), 23 EHT, 6 HBT, and 11 EHT and HBT. An analysis of variance examined group differences on the Child Behavior Checklist and the Behavior Rating Inventory of Executive Function ranging from 5 to 18 years. RESULTS: Although no differences were identified on the Behavior Rating Inventory of Executive Function, the 3 hormonal replacement therapy groups presented with decreased complications on numerous variables on the Child Behavior Checklist; these include somatic complaints (P = .0095), somatic problems (P = .041), internalizing problems (P = .034), externalizing problems (P = .0001), and withdrawn/depression (P = .025). CONCLUSION: This study presents evidence that HBT may be a beneficial treatment for individuals with 49,XXXXY

Incidence of sex chromosome aneuploidy in Northern Italy: 27-year longitudinal study

OBJECTIVES: The availability of cell-free DNA (cfDNA) as a screening tool affords an opportunity for non-invasive identification of sex chromosome aneuploidies (SCAs). This longitudinal study from 1995 through 2021 investigates both the evolution and frequency of prenatal diagnostic testing using amniocentesis (AF) and chorionic villus sampling (CV), and the detection of SCAs through cfDNA samples from a large cohort in Northern Italy. METHODS: The results of genetic testing from CV and AF samples collected from public and private centers in Italy from 1995 to 2021 were collected. Chromosomal analysis was performed by routine Q-banding karyotype. Regression analyses and descriptive statistics were used to determine population data trends regarding the frequency of prenatal diagnostic testing and the identification of SCAs and correlated with changes in the indications for prenatal diagnostic tests and available screening options. RESULTS: In 27 years, 13,939,526 births and 231,227 invasive procedures were performed. This resulted in the prenatal diagnosis of 934 SCAs. After the commercial introduction of cfDNA use in 2015, the frequency of invasive procedures significantly decreased (P=0.03), while the frequency of prenatal SCA detection significantly increased (P=0.007). The indication for invasive procedures also shifted from advanced maternal age (AMA) to positive cfDNA results for sex chromosome trisomies (SCTs). CONCLUSIONS: Our findings suggest the inclusion of SCAs in prenatal cfDNA screening tests can increase the prenatal identification of affected individuals. As the benefits of early ascertainment are increasingly recognized, it is essential that healthcare providers are equipped with comprehensive and evidence-based information regarding the associated phenotypic differences and the availability of targeted effective interventions to improve neurodevelopmental and health outcomes for affected individuals. This article is protected by copyright. All rights reserved