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Objective: Transcobalamin II deficiency is a rare autosomal recessive disease characterized by decreased cobalamin availability, which in turn causes accumulation of homocysteine and methylmalonic acid. The presenting clinical features are failure to thrive, diarrhea, megaloblastic anemia, pancytopenia, neurologic abnormalities, and also recurrent infections due to immune abnormalities in early infancy., Materials and Methods: Here, we report the clinical and laboratory features of six children with transcobalamin II deficiency who were all molecularly confirmed., Results: The patients were admitted between 1 and 7 months of age with anemia or pancytopenia. Unexpectedly, one patient had a serum vitamin B12 level lower than the normal range and another one had nonsignificantly elevated serum homocysteine levels. Four patients had lymphopenia, four had neutropenia and three also had hypogammaglobulinemia. Suggesting the consideration of transcobalamin II deficiency in the differential diagnosis of immune deficiency. Hemophagocytic lymphohistiocytosis was also detected in one patient. Furthermore, two patients had vacuolization in the myeloid lineage in bone marrow aspiration, which may be an additional finding of transcobalamin II deficiency. The hematological abnormalities in all patients resolved after parenteral cobalamin treatment. In follow-up, two patients showed neurological impairments such as impaired speech and walking. Among our six patients who were all molecularly confirmed, two had the mutation that was reported in transcobalamin II-deficient patients of Turkish ancestry. Also, a novel TCN2 gene mutation was detected in one of the remaining patients., Conclusion: Transcobalamin II deficiency should be considered in the differential diagnosis of infants with immunological abnormalities as well as cytopenia and neurological dysfunction. Early recognition of this rare condition and initiation of adequate treatment is critical for control of the disease and better prognosis.

Background: The Childhood Asthma Control Test (C-ACT) has been proposed to be a simple, patient-based test that is able to reflect the multidimensional nature of asthma control. In this analysis, the aim was to evaluate the perceptions of physicians and caregivers concerning C-ACT and its predictive value for future asthma-related events., Method: In a multicenter prospective design, 368 children aged 4-11 years with asthma who were either well- or not well-controlled were included in the study. The study participants were evaluated during three visits made at 2-month intervals and the Turkish version of C-ACT was completed each month. Parents completed questionnaires concerning their perception of asthma (before and after the study) and the C-ACT (after the study). Physicians completed a survey about their perception of a control-based approach and the C-ACT., Results: The C-ACT scores increased from visit 1 to visit 3, with improvement seen in all domains of the test. At the end of the study period, the parents more strongly agreed that asthma could be controlled completely and that asthma attacks and nocturnal awakenings due to asthma were preventable (p < .05). Most of the parents reported that the C-ACT helped them to determine asthma treatment goals for their children and also that the C-ACT improved communication with their physicians. The physicians indicated that a control-centered approach was more convenient (95%) and simpler (94.5%) than a severity-centered approach and provided better disease control (93.4%). A higher C-ACT score was associated with a decreased risk of asthma attack and emergency department admittance in the 2 months following the administration of C-ACT. Conclusion. Our findings indicated that the C-ACT improved both parental outlook on asthma control and the communication between the physician and parents. There was a good correlation between the C-ACT score and the level of asthma control achieved, as described by the physician. Additionally the C-ACT score was predictive of future asthma-related events. These findings suggest that the C-ACT may have an important role in asthma management in the future.

Introduction: The reliability and validity of Turkish version of Childhood Asthma Control Test (C-ACT)., Purpose: The management of asthma is an important as well as difficult issue of physician's daily practice particularly in busy clinical settings. C-ACT was created to identify asthma control levels in children aged 4-11 years. Our aim was to evaluate the reliability, validity and responsiveness of C-ACT in a Turkish sample of children with asthma., Method: In this multicenter study, 368 children were enrolled. C-ACT was completed every month by parents and patients who were evaluated in 3 visits within 2 month intervals. At each visit, physicians interpret the control level and decided for the treatment step as established in GINA guidelines., Results: The internal consistency reliability of the Turkish version of C-ACT (C-ACT1 to C-ACT5) was found to be 0.82, 0.83, 0.82, 0.82 and 0.80, respectively (reliability statistics, Cronbach's alpha). Test-retest reliability was 0.71. There was significant correlation between C-ACT and physician's assessment of asthma control at visit 1 (r = 0.65, P < 0.001)., Conclusions: Turkish version of C-ACT is an accurate and reliable tool to evaluate asthma control in children aged 4-11 years. Its widespread use may facilitate appropriate assessment of asthma control and may lead to decrease the number of uncontrolled patients.

Background: Anaphylaxis is a serious and potentially lethal systemic reaction affecting more than one organ or system., Objective: We aimed to describe the demographic characteristics, clinical features, causes, settings, and administered therapy in Turkish children., Methods: This retrospective, case note study included all children referred to the outpatient clinics of the Pediatric Allergy Departments of the participating study centres from 1 July 1999 to 30 June 2009 for investigation of anaphylaxis or who were seen by us at the moment of the reaction during the same period and who met the clinical criteria of anaphylaxis., Results: Two hundred and twenty-four cases of anaphylaxis were reported in 137 children (88 boys, P = 0.0001). The mean ± SD age at the referral was 7.7 ± 4.2 years (range: 4 months-17 years). Ninety-eight episodes (43.8%) occurred at home. The symptoms were cutaneous in 222 (99.1%) episodes, respiratory in 217 (96.9%), neuro-psychiatric in 118 (52.7%), cardiovascular in 92 (41.1%), and gastrointestinal in 88 (39.3%). Biphasic reaction was reported in seven episodes (3.1%, 95% CI: 1.5-6.3). Death occurred in one case (0.4%, 95% CI: 0.08-2.4). Treatment was available in 158 episodes (70.5%). Of them, 148 (93.7%) received antihistamines, 132 (83.5%) corticosteroids, 51 (32.3%) epinephrine, and 17 (10.8%) beta-2-mimetics. The causative agents were foods in 86 (38.4%) episodes, hymenoptera venom in 84 (37.5%), drugs and medications in 47 (21.0%), and latex in 5 (2.2%). In two episodes (0.9%), the causative agent was unidentified. Allergy to the trigger was known prior to anaphylaxis in 116 (51.8%) episodes. An epinephrine auto-injector had been prescribed for 70 children (51.1%)., Conclusions and Clinical Relevance: Anaphylaxis was seen significantly more in boys. Most of the reactions occurred at home. Foods were the most frequent cause. Epinephrine, the first-line treatment of anaphylaxis, was administered in only a third of the children., (© 2011 Blackwell Publishing Ltd.)

Background: Childhood atopic dermatitis (AD) is classically accepted as initial finding of atopic march; however, nonatopic cases do not follow this course. The aim of this study was to determine the characteristics and prognosis of AD in childhood in Turkey., Methods: The study included 531 children with AD that presented to pediatric allergy departments in 11 different regions of Turkey. Age at diagnosis, total serum and inhalant-specific immunoglobulin E (IgE) levels and allergen skin prick test results were recorded retrospectively. Clinical characteristics like additional allergic diseases at presentation or during follow-up were recorded as well as duration of follow-up., Results: Mean age at diagnosis was 37.8 +/- 36.2 months. Mean IgE level was 318.3 +/- 677.8 IU/ml (median 100 IU/ml). Skin prick tests yielded positive results in 47% of children. At presentation, 31.6% of children reported additional allergic disease, while 11.7% developed allergic disease during follow-up. Among all, 46.6% had additional allergic disease at any point. IgE levels were significantly higher in children with additional allergic diseases (p = 0.001). Allergen skin prick test positivity and family history of allergic diseases increased the risk of additional allergic diseases significantly (OR = 3.90, 95% CI = 2.3-6.6 and OR = 1.89, 95% CI = 1.3-2.8, respectively)., Conclusions: Allergic sensitization is not present in all cases of AD. Coexistence of additional allergic diseases is not as high as expected but more common in children who have been demonstrated to have atopic sensitization with high IgE levels and allergen skin prick test positivity., (Copyright 2010 S. Karger AG, Basel.)

Successful management of childhood asthma requires a thorough idea of the economic impact of asthma and its determinants, as policy makers and physicians inevitably influence the outcome. The aim of this study was to define the cost of childhood asthma in Turkey and its determinants. In April 2006, a multi-center, national study was performed where data regarding cost and control levels were collected. Asthmatic children (6-18 yr) with at least a 1-yr follow-up seen during a 1-month period with scheduled or unscheduled visits were included. The survey included a questionnaire-guided interview and retrospective evaluation of files. Cost and its determinants during the last year were analyzed. A total of 618 children from 12 asthma centers were surveyed. The total annual cost of childhood asthma was US$1597.4 +/- 236.2 and there was a significant variation in costs between study centers (p < 0.05). Frequent physician visits [odds ratio (95% confidence intervals)] [2.3 (1.6-3.4)], hospitalization [1.9 (1.1-3.3)], asthma severity [1.6 (1.1-2.8)], and school absenteeism due to asthma [1.5 (1.1-2.1)] were major predictors of total annual costs (p < 0.05 for each). The comparable cost of asthma among Turkish children with that reported in developed countries suggests that interventions to decrease the economic burden of pediatric asthma should focus on the cost-effectiveness of anti-allergic household measures and on improving the control levels of asthma.

Rhinitis is a common problem with important comorbidities. In order to search the association between rhinitis, allergic phenotypes and other risk factors in Turkish children, a parental questionnaire about allergic diseases and risk factors, and skin prick test (SPT) with 13 inhalant allergens were performed in a population-based sample of 2774 children aged 9-11 yr. Bronchoprovocation testing with hypertonic saline (HS)and total IgE analysis were limited to a subsample of 350 children. Rhinitis was defined as a problem with sneezing, rhinorrhea, or nasal congestion when the child did not have a viral respiratory infection. The prevalences of ever rhinitis, current (last 12 months) rhinitis (CR), and ever hay fever were 36.3%, 30.6%, and 8.3%, respectively. SPT positivity rate was 20.4% among children with CR. Current wheezing and flexural dermatitis were significantly associated with CR. CR significantly increased the risk of asthma among both atopic and non-atopic subjects [odds ratio (OR), 3.98; 95% CI, 1.81-8.76; and OR, 2.79; 95% CI, 1.82-4.26, respectively]. The association between CR and bronchial hyperreactivity (BHR) was not significant. The multiple logistic regression analysis revealed family atopy (OR=2.25, 95% CI=1.79-2.83, p<0.001), current indoor heating with gas stove (OR=1.78, 95% CI=1.18-2.64, p=0.006) and dampness/molds at home during the first year of life (OR=1.70, 95% CI=1.25-2.31, p=0.001) as significant risk factors for CR. Turkish school children showed a high prevalence of rhinitis with a preponderance of non-atopics. The highly significant association between rhinitis and asthma independent of atopic sensitization emphasize the importance of non-atopic forms of rhinitis.

Emergence of new environmental risk factors, and/or loss of protective factors of a traditional lifestyle may explain the increase, or variations in prevalence of allergic diseases. The aim of this study was to delineate the prevalence and spectrum of, and to reveal the causal and/or protective factors for atopic sensitization among a heterogeneous cohort of Turkish children, for the first time in our country. The study design adhered to International Study of Asthma and Allergies in Childhood (ISAAC) phase II protocol. A self-administered parental questionnaire about demographic characteristics and detailed risk factors, and skin-prick test with 13 allergens were employed in a clustered random sample of 8-11-yr-old Turkish school children. Atopy was defined as the presence of at least one positive skin reaction to any allergen tested. The association between a total of 78 risk factors and different aspects of atopy were analyzed in 1144 children with multivariate logistic regression analysis. The overall prevalence of atopy was 20.6%. Most common sensitizations were to grass pollens, Dermatophagoides pteronyssinus and Blatella germanica. Day care attendance, high paternal education level, male gender and maternal asthma were significant risk factors for atopy. Breastfeeding more than 6 months (compared with 0-6 months), maternal smoking during pregnancy and a birth weight under 2500 g were inversely related to (or protective factors for) atopic sensitization. Maternal atopic disease had significant effects on risk factors pattern. In children with a maternal atopy history a low birth weight, day care attendance and maternal smoking during the first year of life independently increased the risk of atopic sensitization. Gender, breastfeeding and paternal education did not show any association with atopy in this group of children. A history of measles and low gestational age were significant protective factors for mite sensitization. This study showed that children of atopic mothers showed a different profile of risk factors associated with atopic sensitization, when compared with other children. Prenatal and early childhood events had important associations with atopic sensitization.

Background: Numerous epidemiologic studies have revealed that bronchial asthma affects populations without regard to frontiers. However, standardized methodological approaches are necessary to compare these populations., Objective: To investigate objective markers of childhood asthma on an epidemiologic basis and to include Turkish children in international comparisons., Methods: Parental questionnaires were collected and skin prick tests performed on fourth grade primary schoolchildren, aged 8 to 11 years, residing in Ankara, Turkey. Pulmonary function tests and bronchial challenge with hypertonic saline (HS) were conducted in children selected from this cohort with a stratified random sampling according to the presence of current wheezing., Results: A total of 3,041 questionnaires were included in the evaluation. Skin prick tests were performed on 2,774 children (97.1%). A total of 347 children from this cohort underwent pulmonary function and bronchial challenge tests. In 18 (5.1%) of the 347 children, bronchial challenge tests could not be successfully completed. The prevalence values were 11.5% for current wheezing, 6.9% for physician-diagnosed asthma, and 7.7% for physician-diagnosed recurrent bronchitis. Population-based weighted prevalence of bronchial hyperresponsiveness (BHR) was 21.8%. Frequency of responses to HS was 38.6% among physician-diagnosed asthma cases and 30.5% among patients with current wheezing. Skin test positivity was present in 38.7% of the children with a diagnosis of asthma or asthmatic bronchitis, 35.0% of current asthmatic patients, and 19.2% of patients with current wheezing., Conclusions: Objective markers, in addition to the questionnaire-based prevalence figures, need to be used in epidemiologic surveys for asthma, especially in countries with inadequate health care facilities or problems with interpretation of the wheeze concept.

We assessed the prevalence of symptoms suggestive of asthma in Turkish Cypriot schoolchildren and the associated risk factors using a slightly modified version of the ISAAC (International Study of Asthma and Allergies in Childhood) questionnaire. The questionnaire and questions regarding risk factors were issued to the parents of 2,822 children aged six to 14 years. The response rate was 89.6 percent. The cumulative and 12-month prevalence of wheezing were 14.7 and 4.8 percent, respectively. The prevalence of physician-diagnosed asthma was 11.4 percent. Family history of atopy was the strongest risk factor for "ever wheezing" (odds ratio [OR] 1.71, 95% confidence interval [CI] 1.52-1.92) and physician-diagnosed asthma (OR 1.71, CI 1.53-1.93). This study demonstrates that symptoms suggestive of asthma are quite common and constitute a major health problem in Northern Cyprus.