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Background: Mutations in the HAX-1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN), which particularly manifests with recurrent skin, lung and deep tissue infections from the first few months of life., Objective: We retrospectively evaluated the clinical and laboratory findings of the patients diagnosed with SCN carrying HAX1 gene mutations., Methods: A total of five patients with SCN, carrying a HAX1 gene mutation, were evaluated in terms of clinical and laboratory findings. Mutation analysis of the candidate genes (HAX1, ELANE and CSF3R) was performed., Results: All of the patients lived in Turkey; four of them were of Kurdish origin and one was Turkish. Of the five patients, three were girls and two were boys, and the mean age of the patients was 8.8 years old (range 4-15 years). The mean age of diagnosis was 25.8 months (range 2 months-5 years). The infections diagnosed included recurrent gingivitis, stomatitis, and skin and soft tissue abscesses. Developmental retardation and epilepsy were present in only one patient, whereas speech retardation was present in two. All of our patients had a HAX1 mutation, and are still alive and none of them has shown malignant transformation yet., Conclusion: Complete blood count should be performed and absolute neutrophil count should be evaluated in patients with recurrent severe infections. In the event that neutropenia is detected, they should be investigated in terms of SCN and mutation analysis should be performed.

Background: Asthma is one of the most important diseases of childhood. The aim of this study was to evaluate the prevalence of asthma symptoms and risk factors affecting asthma., Methods: In a cross-sectional study design, 9991 children, aged 13-14 years in 61 primary schools in 32 districts of Istanbul were evaluated. Asthma prevalence among the children was assessed using the ISAAC protocol., Results: In our study, a total of 10,894 questionnaires were distributed to 13-14 years old children, and of these 9991 questionnaires were suitable for analysis with an overall response rate of 91.7%. The rates of wheeze ever, wheezing in last 12 months and lifetime doctor diagnosed asthma prevalence were 17.4%, 9.0%, and 11.8%, respectively. There were 4746 boys (47.9%) and 5166 girls (52.1%) with M/F ratio of 0.92. Atopic family history, fewer than three siblings living at home, tonsillectomy or adenoidectomy history, consumption of fermented foods, mixed pickles, margarine and meat were found to be associated with an increased asthma risk. Use of paracetamol in the last 12 months, consumption of fruit and animal fats acted as a protective factor against asthma. The Mediterranean-style diet was not associated with the prevalence of asthma., Conclusions: Lifetime doctor diagnosed asthma prevalence was found to be 11.8% in 13-14 year olds. History of tonsillectomy and/or adenoidectomy and consumption of fermented foods, mixed pickles, margarine and meat may increase the symptoms of asthma. Usage of paracetamol and consumption of animal fats may be investigated as a protective factor against asthma., (Copyright © 2013 SEICAP. Published by Elsevier Espana. All rights reserved.)

Background: Asthma is the most common chronic disease of childhood in industrialised countries. T helper-2 (Th-2) cells, mast cells and eosinophils have a role in inflammation of asthma. Recently it was shown that platelets also play a role in asthma. Mean platelet volume shows platelet size and reflects platelet activation., Objective: The aim of this retrospective study is to evaluate levels of mean platelet volume in asthmatic patients during asymptomatic periods and exacerbations compared with healthy controls., Methods: The study consisted of 100 asthmatic patients (male/female: 55/45, mean age: 8.2±3.3) and 49 age and sex matched healthy children as a control group., Results: Mean platelet volume values of asthmatic patients during asymptomatic period were 7.7±0.8fL while mean platelet volume values in asthmatics during exacerbation were 7.8±0.9fL. Comparison of mean platelet volume values of asthmatic patients and healthy controls both in acute asthmatic attack and asymptomatic period showed no difference (p>0.05). Comparison of mean platelet volume values at asthmatic attack and asymptomatic period also had no difference (p>0.05). The presence of atopy, infection, eosinophilia, elevated immunoglobulin E, and severity of acute asthmatic attack did not influence mean platelet volume values., Conclusion: The results of our study suggest that mean platelet volume values may not be used as a marker in bronchial asthma, although prospective studies with larger number of patients are needed to evaluate the role of mean platelet volume in asthma., (Copyright © 2011 SEICAP. Published by Elsevier Espana. All rights reserved.)

Background: Licorice root has been widely used to treat bronchial asthma for many years. However, the effect of this herb on lung histopathologic features is not fully understood., Objective: In this study, we aimed to determine the effects of oral administration of glycyrrhizin, an active constituent of licorice root, on lung histopathologic features in BALB/c mice, in which the model of chronic asthma was established., Methods: Twenty-eight BALB/c mice were divided into 4 groups: control, placebo, dexamethasone, and glycyrrhizin. Mice in the treatment and placebo groups were sensitized with 2 intraperitoneal injections of ovalbumin and then were exposed to aerosolized ovalbumin for 30 minutes per day on 3 days each week for 8 weeks beginning on the 21st study day. In the last week of inhalational exposure, mice in the placebo group received saline and those in the treatment groups received either dexamethasone, 1 mg/kg, or glycyrrhizin, 10 mg/kg, via orogastric gavage for 7 consecutive days. Animals were humanely killed 24 hours after the last ovalbumin and drug exposure. Lung histopathologic findings were evaluated using light and electron microscopy., Results: As evaluated in the control, placebo, dexamethasone, and glycyrrhizin groups, respectively, the mean (SD) basement membrane thickness was 306.34 (36.91), 657.52 (98.99), 405.13 (96.1), and 465.01 (121.48) nm; subepithelial smooth muscle thickness was 7.22 (1.37), 11.24 (1.85), 5.62 (1.15), and 7.76 (1.11) μm; epithelium thickness was 19.48 (1.22), 41.62 (5.49), 22.59 (3.18), and 25.54 (4.68) μm; number of mast cells was 1.34 (0.19), 3.62 (0.5), 2.06 (0.77), and 2.77 (0.23)/16,400 μm(2); and number of goblet cells was 0.32 (0.1), 4.92 (0.82), 0.66 (0.06), and 0.98 (0.15)/100 μm. Evaluation of lung histopathologic features demonstrated that the chronic asthma model of mice was successfully established, with significantly higher numbers of goblet and mast cells and increased thickness of epithelium, basement membrane, and subepithelial smooth muscle layers (P < 0.001 for all) in the asthma group compared with in the control group. The number of goblet (P < 0.001) and mast (P < 0.02) cells and the thickness of basement membrane (P < 0.001), subepithelial smooth muscle layers (P ≤ 0.001), and epithelium of the lung (P < 0.001) were found to be significantly lower in the glycyrrhizin group compared with in the placebo group. When the glycyrrhizin and dexamethasone groups were compared, there was no statistically significant difference between the 2 groups in the histopathologic parameters, including thickness of basement membrane (P = 0.514), subepithelial smooth muscle (P = 0.054), and epithelium (P = 1.0) and number of mast (P = 0.075) and goblet (P = 0.988) cells., Conclusions: The results of this study suggest that the group receiving glycyrrhizin had amelioration of all established chronic histopathologic changes of lung in the mouse model of asthma. Further studies are needed to evaluate the efficacy of glycyrrhizin in the management of asthma.