Childhood asthma: recent developments and update.

PURPOSE OF REVIEW: The purpose of this review is to provide an update on childhood asthma specifically related to the underlying genetic background and pathophysiology of asthma and their interaction with environmental stimuli. We will also discuss emerging data in the field of disease phenotyping. RECENT FINDINGS: The field of genetics is continuously evolving to expand our knowledge on the cause of disease. Childhood onset asthma has been related to atopy and exposure to early-life infections. More recently, phenotypes have been used to classify asthma as transient and persistent, but the association of each phenotype with the genetic origin of asthma is not clearly understood. SUMMARY: This review covers the topics of genetics, epigenetics, pathophysiology, phenotypes and treatment as they relate to childhood asthma. Overall, it provides a basis for the future of asthma treatment through description of the current research.

Improved indoor air quality during desert dust storms: The impact of the MEDEA exposure-reduction strategies.

Desert dust storms (DDS) are natural events that impact not only populations close to the emission sources but also populations many kilometers away. Countries located across the main dust sources, including countries in the Eastern Mediterranean, are highly affected by DDS. In addition, climate change is expanding arid areas exacerbating DDS events. Currently, there are no intervention measures with proven, quantified exposure reduction to desert dust particles. As part of the wider "MEDEA" project, co-funded by LIFE 2016 Programme, we examined the effectiveness of an indoor exposure-reduction intervention (i.e., decrease home ventilation during DDS events and continuous use of air purifier during DDS and non-DDS days) across homes and/or classrooms of schoolchildren with asthma and adults with atrial fibrillation in Cyprus and Crete-Greece. Participants were randomized to a control or intervention groups, including an indoor intervention group with exposure reduction measures and the use of air purifiers. Particle sampling, PM10 and PM2.5, was conducted in participants' homes and/or classrooms, between 2019 and 2022, during DDS-free weeks and during DDS days for as long as the event lasted. In indoor and outdoor PM10 and PM2.5 samples, mass and content in main and trace elements was determined. Indoor PM2.5 and PM10 mass concentrations, adjusting for premise type and dust conditions, were significantly lower in the indoor intervention group compared to the control group (PM2.5-intervention/PM2.5-control = 0.57, 95% CI: 0.47, 0.70; PM10-intervention/PM10-control = 0.59, 95% CI: 0.49, 0.71). In addition, the PM2.5 and PM10 particles of outdoor origin were significantly lower in the intervention vs. the control group (PM2.5 infiltration intervention-to-control ratio: 0.49, 95% CI: 0.42, 0.58; PM10 infiltration intervention-to-control ratio: 0.68, 95% CI: 0.52, 0.89). Our findings suggest that the use of air purifiers alongside decreased ventilation measures is an effective protective measure that reduces significantly indoor exposure to particles during DDS and non-DDS in high-risk population groups.

Cervical lymphadenopathy in childhood epidemiology and management.

Cervical lymphadenopathy (CL) is common in childhood. The aim of this study is to evaluate the etiology, follow-up, and treatment of persistent CL. The authors studied retrospectively 50 children with CL, hospitalized at the Department of Pediatrics and Pediatrics Surgery. Patients underwent ultrasonography. Thirty-six percent presented abnormal ultrasonographic image and underwent excisional biopsy. Biopsies revealed 4 thyroglossal cysts, 3 branchial cysts, 1 hemangioma, 2 sebaceous cysts, 1 dermoid cyst, 5 occurrences of tuberculosis lymphadenitis, 1 occurrence of Bartonella henselae lymphadenopathy, and 1 case of non-Hodgkin lymphoma. In conclusion, CL is usually a benign finding; bacterial and viral infections are the most common causes. Ultrasonography help in etiology and follow-up of CL.

Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).

We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4-14 years old) who presented with confirmed features of autism spectrum disorder (ASD). Twelve patients (7%) manifested increased 3-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, and minor to significant improvement in autistic features was observed in seven patients following supplementation with biotin. Five diagnoses included: Lesch Nyhan syndrome (2), succinic semialdehyde dehydrogenase (SSADH) deficiency (2), and phenylketonuria (1) (2.7%). Additional metabolic disturbances suggestive of IEMs included two patients whose increased urine 3-OH-IVA was accompanied by elevated methylcitrate and lactate in sera, and 30 patients that showed abnormal glucose-loading tests. In the latter group, 16/30 patients manifested increased sera beta hydroxybutyrate (b-OH-b) production and 18/30 had a paradoxical increase of sera lactate. Six patients with elevated b-OH-b in sera showed improved autistic features following implementation of a ketogenic diet (KD). Five patients showed decreased serum ketone body production with glucose loading. Twelve of 187 patients demonstrated non-specific MRI pathology, while 25/187 had abnormal electroencephalogram (EEG) findings. Finally, family history was positive for 22/187 patients (1st or 2nd degree relative with comparable symptomatology) and consanguinity was documented for 12/187 patients. Our data provide evidence for a new biomarker (3-OH-IVA) and novel treatment approaches in ASD patients. Concise 1 sentence take-home message: Detailed metabolic screening in a Greek cohort of ASD patients revealed biomarkers (urine 3-hydroxyisovaleric acid and serum b-OH-b) in 7% (13/187) of patients for whom biotin supplementation or institution of a KD resulted in mild to significant clinical improvement in autistic features.