Search

Early diagnosis of primary immunodeficiencies is crucial for timely treatment and preventing unwanted complications. Next-generation sequencing (NGS) and detailed clinical and immunological evaluation can help early detect such disorders. This study aimed to confirm the diagnosis of two cases of autosomal recessive hyper-immunoglobulin E (IgE) syndrome (AR-HIES), presenting with irreversible eye involvement. Two unrelated patients with suspected AR-HIES were referred to the Immunology, Asthma and Allergy Research Institute (IAARI), Tehran, Iran. Immunological screening tests were performed for AR-HIES, which showed elevated serum IgE levels, eosinophilia, and low T-lymphocyte responses. NGS was performed, and the results were confirmed by Sanger sequencing. Sequence analysis showed a mutation in intron 17 of the dedicator of cytokinesis 8 (DOCK8) gene in the first patient, and a homozygous three base-pair deletion in exon 45 of DOCK8 in the second patient. This is the first time such mutations are reported and these variants are predicted to be damaging. Both patients suffered from persistent viral infections along with cytomegalovirus (CMV) retinitis. Suspicion of these two novel DOCK8 mutations can benefit patients presenting with recalcitrant ophthalmic viral involvements and relevant immunological test results. This would lead to earlier referrals for immunologic and genetic confirmation and thus, a more timely intervention with hematopoietic stem cell transplantation (HSCT). [ABSTRACT FROM AUTHOR]

Noise has been reported as one of the most important risk factors for asthma, but there are some disagreements. This study aimed to investigate the effect of road noise on asthma prevalence in adults. In the current study, 3172 adults were interviewed through the ECRHS standardized questionnaire in Tehran, the capital of Iran. Exposure to road noise was assessed considering distance of individual participants from the noise monitoring stations via the spatial analysis in GIS software. Logistic regression was used to assess the effect of noise on the symptoms of asthma. Findings showed a significant positive association between wheezing with dyspnea as the best marker for asthma and noise levels at daytime (OR 1.03; 0.98–1.05) and nighttime (OR 1.05; 0.84–1.09). Also, a significant positive association was obtained between daytime and nighttime noise levels and other asthma symptoms including wheezing, nocturnal chest tightness, nocturnal dyspnea, wheezing without cold, nocturnal cough, and asthma medication. Association between current asthma and noise level was not significant. There was a significant association between population age and current asthma prevalence (P = 0.001). Therefore, chronic exposure to road noise especially in the nighttime could increase asthma prevalence. So, control of noise sources can be suggested to diminish asthma in adults. [ABSTRACT FROM AUTHOR]

Introduction: Selenium is one of the essential trace elements which is more notified in children in recent years. Reliable age-specific reference values for selenium in children in Iran are not clear and are important for the identification of selenium deficiency and some other researches that is the aim of this study. Methods: Serum samples of 216 healthy children were analyzed by using hydride generation and flame atomic absorption spectroscopy to measured selenium level. Results: The mean and standard deviation of serum selenium level in children 0–16 years old (mean: 39.83 months) was 72.14 ± 16.80 μg/l. There was significant difference in serum selenium concentration between two sexes which was 76.78 ± 15.24 μg/l and 69.56 ± 17.09 μg/l in girls and boys respectively (P value = 0.002). There was also a positive correlation between higher selenium serum concentration and age in both sexes. Conclusion: Essential trace element's normal ranges are fundamental data which could use in many studies. Serum selenium concentration in healthy Iranian children that found in this study is very close to serum concentration of European children. Our findings may reveal nutritional culture's similarity. [ABSTRACT FROM AUTHOR]