A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome.

Mutations in adenosine triphosphate-binding cassette transporter A3 (ABCA3) (OMIM: 601615) gene constitute the most frequent genetic cause of severe neonatal respiratory distress syndrome (RDS) and interstitial lung disease (ILD) in children. Interstitial lung disease in children and especially in infants, in contrast to adults, is more likely to appear as a result of developmental deficits or is characterized by genetic aberrations of pulmonary surfactant homeostasis not responding to exogenous surfactant administration. The underlying ABCA3 gene mutations are commonly thought, regarding null mutations, to determine the clinical course of the disease while there exist mutation types, especially missense variants, whose effects on surfactant proteins are difficult to predict. In addition, clinical and radiological signs overlap with those of surfactant proteins B and C mutations making diagnosis challenging. We demonstrate a case of a one-term newborn male with lethal respiratory failure caused by homozygous missense ABCA3 gene mutation c.3445G>A (p.Asp1149Asn), which, to our knowledge, was not previously reported as a causative agent of newborn lethal RDS. Therapeutic strategies for patients with ABCA3 gene mutations are not sufficiently evidence-based. Therefore, the description of the clinical course and treatment of the disease in terms of a likely correlation between genotype and phenotype is crucial for the development of the optimal clinical approach for affected individuals.

Pediatric Pulmonary Function Testing in COVID-19 Pandemic and Beyond. A Position Statement From the Hellenic Pediatric Respiratory Society.

As the COVID-19 pandemic is still evolving, guidelines on pulmonary function testing that may dynamically adapt to sudden epidemiologic changes are required. This paper presents the recommendations of the Hellenic Pediatric Respiratory Society (HPRS) on pulmonary function testing in children and adolescents during the COVID-19 era. Following an extensive review of the relevant literature, we recommend that pulmonary function tests should be carried out after careful evaluation of the epidemiologic load, structured clinical screening of all candidates, and application of special protective measures to minimize the risk of viral cross infection. These principles have been integrated into a dynamic action plan that may readily adapt to the phase of the pandemic.

The Beneficial Effect of the Mobile Application Euglyca in Children and Adolescents with Type 1 Diabetes Mellitus: A Randomized Controlled Trial.

Background: Euglyca® is a mobile application which we developed for children and adolescents suffering type 1 diabetes mellitus (T1DM) for calculation of the appropriate insulin bolus dose by importing in the equation carbohydrates, lipids, glucose levels, and personalized parameters. Aim of this study is to evaluate the efficacy of this application on patients' glycemic control and satisfaction. Subjects and Methods: Eighty children and adolescents (aged 13.5 ± 2.8 years old, mean ± standard deviation) with T1DM were included in the study and were randomly and equally assigned in two groups. Patients were asked to use Euglyca for the calculation of the bolus insulin dose in the E group and to pursue their routine calculations in the C group (controls). At baseline and at 3, 6, and 12 months following the initial visit, glycated hemoglobin (HbA1c) values, percentages of hypoglycemias, hyperglycemias, and normoglycemias were determined for each patient, while Diabetes Treatment Satisfaction Questionnaire (DTSQ) was used to assess patients' treatment satisfaction at baseline and at 6 and 12 months. Results: Children and adolescents in the E group had a statistically significant decrease in HbA1c values and increase in percentages of normoglycemias and DTSQ scores, in comparison to children and adolescents in the C group. In the E group, a statistically significant positive linear correlation was found between DTSQ score and percentages of normoglycemias and a statistically significant negative correlation between changes in percentages of normoglycemias (Δnormoglycemias) and changes in HbA1c (ΔHbA1c). Conclusions: The use of the mobile application Euglyca contributes to the improvement of glycemic control and treatment satisfaction of children and adolescents with T1DM.

Reduced exercise capacity in Greek children with mild to moderate obstructive sleep apnea syndrome.

INTRODUCTION: Obstructive sleep apnea syndrome (OSAS) is a common disease that is increasingly recognized among pediatric population. The exercise capacity of adults with OSAS has been demonstrated to be impaired, but there are no data about pediatric exercise response. AIM: The aim of this study was to evaluate cardiopulmonary response to exercise in children with OSAS and to correlate exercise capacity and severity of OSAS. METHODS: Twenty-seven children with habitual snoring (Group A) (mean age 10.5 ± 1.8 years) referred for overnight polysomnography and 13 apparently healthy controls (mean age 11 ± 1.5 years) were recruited. According to the apnea hypopnea index (AHI) group A consisted of 15 (55.6%) children with mild OSAS and 12 (44.4%) with moderate-severe OSAS. All children completed a maximal ramping cardiopulmonary exercise test (CPET) on cycle ergometer. RESULTS: According to CPET children with OSAS had significantly lower VO2max (40.3 ± 8.4 ml/kg/min vs. 47.6 ± 7.9 ml/kg/min, P = 0.013) significantly lower VO2max (%) (77.7 ± 15 vs. 92.9 ± 10.5, P = 0.002), lower maximum heart-rate at peak exercise (86.6 ± 8.8 beat/min vs. 90.6 ± 7.2 beat/min) and higher systolic blood pressure level at peak exercise (145 ± 27.4 mmHg vs. 143.92 ± 20 mmHg) compared to control group. CONCLUSION: The present study demonstrates that young patients with OSAS, even with mild OSAS, had reduced exercise capacity as compared to control group.