Effects of lumbar lordosis increment on gait deteriorations in ambulant boys with Duchenne Muscular Dystrophy: A cross-sectional study.

BACKGROUND: Increment of lumbar lordosis, a frequent spinal finding in Duchenne Muscular Dystrophy (DMD), is a compensatory mechanism secondary to muscle weakness. However, excessive lumbar lordosis may change the position of the center of mass, and lead to balance and walking difficulties. OBJECTIVE: To study the relationship between factors that may influence ambulatory function in boys with DMD and to investigate the effects of lumbar lordosis increment on gait and balance perturbations. METHODS: Twenty-one ambulant patients with DMD and 10 healthy boys were included. Lumbar lordosis and thoracic kyphosis angles, dynamic and static balance tests, ambulatory function, muscle strength, and disease severity were assessed. Usage of steroids and orthotic devices were recorded. Scoliosis was assessed on radiographs. Receiver operator characteristic curves were formed and area under curve (AUC) measurements were performed to assess the ability of the tests to discriminate ambulatory status and optimal cut-off values were established according to the Youden index. RESULTS: The amount of lumbar lordosis correlated strongly and negatively with quality of ambulation (r = -0.710) and moderately with performance on balance tests. The strength of both upper limbs and lower limbs muscles were not associated with any of the variables. According to the AUC analysis, patients with a lumbar lordosis higher than 36° had worse scores on gait and dynamic balance tests. CONCLUSION: Ambulation and dynamic balance are negatively affected by the increment of lumbar lordosis with a cut-off point of 36°in boys with DMD.

Comparison of nasal airway obstruction with sonoelastography and nose obstruction symptom evaluation scores in children with allergic rhinitis.

OBJECTIVE: Nasal airway obstruction caused by inferior turbinate hypertrophy is the most troublesome symptom for patients with allergic rhinitis. The aim of this study was to determine any correlation between different nasal obstruction measurements in children with allergic rhinitis. MATERIAL AND METHODS: Nasal airway obstruction was assessed with Sonoelastography, Turkish version of the Nose Obstruction Symptom Evaluation scale, Rhinoconjunctivitis Total Symptom Score and visual analog scale methods in children with allergic rhinitis and the results were compared with a healthy control group. RESULTS: Evaluation was made of a total of 68 patients (40 boys and 28 girls [male: female ratio, 1.42]) with a mean age of 13.35±3.35 (range, 7-18) years. The Rhinoconjunctivitis Total Symptom Score, visual analog scale, and Turkish version of the Nose Obstruction Symptom Evaluation scale scores were significantly higher in the AR group than in the control group (p=0.001, p=0.001, p=0.001, respectively). The sonoelastography scores were significantly higher in the AR group than in the control group (p=0.001). Although a positive significant correlation was determined between Rhinoconjunctivitis Total Symptom Score, visual analog scale, and Turkish version of the Nose Obstruction Symptom Evaluation scale scores in terms of AR severity, no relationship was found with the sonoelastography scores (p=0.022, p=0.009, p=0.001, and p=0.0751, respectively). CONCLUSION: The Turkish version of the Nose Obstruction Symptom Evaluation scale and sonoelastography can be used to evaluate nasal obstruction due to inferior turbinate hypertrophy in children with allergic rhinitis.

Role of the Th1 and Th17 Pathway in Subacute Sclerosing Panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a progressive and fatal disease caused by reactivation of a mutated measles virus in brain tissue. The process of reactivation is yet to be elucidated. In this study, the possible roles of the Th1 (interleukin [IL]-12, interferon [IFN]-γ) and the Th17 axis (IL-23, IL-17, IL-22), particularly of IL-17, in the pathogenesis of SSPE were investigated. Briefly, mononuclear cells from SSPE patients were stimulated using measles virus peptide, and the release of IL-12, IL-23, IL-22, IFN-γ, and IL-17 cytokines was measured using enzyme-linked immunosorbent assay and/or enzyme-linked immunosorbent spot assay (ELISpot). We found that in comparison to the mononuclear cells obtained from healthy donors, cells from SSPE patients exhibited increased levels of IL-12, IL-23, IL-17, IL-22, and IFN-γ cytokines in response to measles virus stimulation. However, the same result was not obtained with cytomegalovirus and phytohemagglutinin. Using flow cytometry, mononuclear cells obtained from SSPE patients and healthy controls were also analyzed for the presence of intracellular IL-17 in response to measles virus stimulation. On stimulation, the number of IL-17-positive cells were found to be higher among mononuclear cells obtained from the patients. In addition, the numbers of IL-17- and IFN-γ-positive cells were significantly increased in SSPE patients. In conclusion, this study demonstrates that both the IL-12/IFN-γ and the IL-23/IL-17/IL-22 pathways are functionally abnormal in SSPE pathogenesis. Targeting these pathways and their specific pro-inflammatory mediator production may provide a new strategy to suppress SSPE development.

Evaluation of Pediatric Voice Handicap Index in Children With Allergic Rhinitis.

OBJECTIVE: The study sought to determine impact of voice disability on children with allergic rhinitis (AR). The Turkish version of the Pediatric Voice Handicap Index (pVHI) was used to assess the impact of voice disability on functional, physical, and emotional aspects of voice and oral communication. The degree of talkativeness was also determined. METHODS: One hundred twenty-three children with AR aged 6-17 years and age-matched 84 children of controls without present or past record of voice disorder were admitted in the cross-sectional study. The pVHI was carried out by an otolaryngologist. RESULTS: Children with AR show higher scores on pVHI compared to healthy children, indicating a greater chance of voice disorders observed in them (P < 0.001). The scores of three domains and total score of pVHI were prevalent in children with AR. In addition, as the severity of AR increased, high scores of pVHI were observed (P = 0.044). The mean talkativeness scores in AR group were lower than those of the healthy controls (P < 0.001). CONCLUSION: In children with AR, voice disorders are more frequently observed and correlate positively with AR severity.

An evaluation of banana allergy in children living in the Mediterranean region

Background/aim: We aimed to apply a double-blind placebo-controlled food challenge (DBPCFC) test to patients who reported a reaction to banana and showed positivity for banana-specific IgE in Turkey. Materials and methods: Medical data of patients who had been analyzed for banana allergy were reviewed, focusing on banana-specific IgE positivity at the Department of Pediatric Allergy-Immunology at the Akdeniz University Faculty of Medicine between the years 2004 and 2012. Patients were called to the clinic for a DBPCFC test. Results: A total of 47 patients participated. We determined reactions in 13% of DBPCFC patients. A cut-off value was determined as 0.66 kU/L for banana-specific IgE, and sensitivity and specificity were 83% and 51%, respectively. The positive predictive value for specific IgE was 20% while the negative predictive value was 96%. Sensitivity and specificity for banana prick-to-prick test (P + P) was 33% and 93%, respectively; positive predictive value was 40% and negative predictive value was 91%. Conclusion: This is the first study conducted in Turkey to use a DBPCFC test in the diagnosis of banana allergy. Up until now, the positive predictive value was not defined for banana-specific IgE. Our study showed that specific IgE or skin tests alone are not adequate for the diagnosis of food allergy; to define subjective symptoms related to food and to determine cross-reactions, DBPCFC tests should be done for confirmation.

Restless legs syndrome in children with allergic rhinitis: A comparative study on frequency, severity and sleep quality.

OBJECTIVES: This study aims to investigate the frequency and severity of restless legs syndrome (RLS) and its relationship with sleep quality in children with allergic rhinitis (AR) with the hypothesis that comorbid RLS may be an additional causative factor of sleep disturbances in pediatric AR. PATIENTS AND METHODS: A total of 143 children with AR (aged 8-18 years) and 144 healthy control subjects (aged 8-18 years) were included. The diagnosis of AR was established on history, clinical examination and skin prick test according to the Allergic Rhinitis and its Impact on Asthma guidelines. Presence of RLS was determined using the International RLS study group (IRLSSG) criteria. The severity of RLS was assessed using the IRLSSG rating scale. Sleep quality was evaluated by Pittsburgh Sleep Quality Index (PSQI). RESULTS: Thirteen patients (9.1%) in AR group, and six children (4.2%) in control group had RLS (p=0.159). The frequency of RLS in AR group was higher than two folds when compared to the control group; however, the difference was not statistically significant. Restless legs syndrome severity score was significantly higher in AR group than control group (15.00 [11-20] and 11.00 [10-16] respectively, p=0.046). Total PSQI scores were similar between groups. Also, no significant differences were observed in total PSQI scores of AR patients with or without RLS. CONCLUSION: Restless legs syndrome was not more common but was more severe in children with AR. There was no evidence that RLS has an obvious effect on sleep quality in children with AR.

Restless Legs Syndrome and Poor Sleep Quality in Obese Children and Adolescents

OBJECTIVE: Adult epidemiological studies suggest that the rate of Restless Legs syndrome (RLS) in the general population may range from 5% to 15%. The aim of this study was to investigate the frequency of RLS in a community sample of obese adolescents aged 10-16 years and to assess the association with sleep quality and health-related glucose metabolism markers. METHODS: The study group comprised 144 obese and overweight children aged 10-16 yearsand the control group consisted of 66 age-matched healthy children. The RLS Questionnaire devised by the International RLS Study and the Pittsburgh Sleep Quality Index (PSQI), where a score >5 indicates poor sleep quality, was used to assess sleep quality. RESULTS: Mean body mass index (BMI) of the overweight/obese and control groups were 30.5±0.5 and 18.7±0.2, respectively. The frequency of RLS was higher in the obese group (21.7%) than the overweight (3.4%) and control (1.5%) (p<0.001) groups. The frequency of a poor PSQI score was significantly higher (p<0.001) in the obese group (37.3%) than the control group (24.2%). The obese with RLS group also had poorer sleep quality scores than the non-RLS obese group. Many symptoms of sleep disruption were more common in obese patients with RLS and RLS was independently correlated with a high PSQI score [odds ratio (OR): 2.25, confidence interval (Cl): 0.96-5.28, p<0.001)] and an increased BMI z-score (OR: 8.87, Cl: 2.04-38.61, p<0.001). CONCLUSION: RLS is common in obese children and may be associated with altered sleep quality. Obese children with RLS need to be assessed since they may need support to improve their sleep quality.

Is orienteering associated with allergic rhinitis in adolescents?

BACKGROUND: Allergic rhinitis (AR) is a disease that reduces athletic performance. Environmental allergen exposure is higher in outdoor sports (such as orienteering) than indoor sports. The main purpose of this study was to investigate the AR frequency in orienteers comparing with indoor athletes. METHODS: Sixty adolescent athletes (33 orienteers, 27 basketball players) enrolled this prospective study. AR diagnosis was made by both history (ISAAC questionnaire) and physical examination. Nasal endoscopy was performed to observe objective findings (concha hypertrophy, mucosal paleness, serosity, septum deviation, adenoid hypertrophy). Epidermal prick test, pulmonary function test, total IgE and serum eosinophil levels were also assessed. RESULTS: AR was diagnosed in 21 (35%) athletes. 14 (42.4%) were orienteers and 7 (25.9%) were basketball players (P=0.144). Endoscopic findings and skin test positivity were also seen at higher percentages in orienteers with no significance. Training age (sport duration), total IgE levels and skin test positivity were significantly higher in rhinitic orieenters than non-rhinitic orieenters (P=0.046, P=0.0001, and P=0.004, respectively). CONCLUSIONS: Although adolescent orieenters had some higher allergic parameters than indoor athletes, they were not found more susceptible to AR. It seems that the frequency of AR increases with longer training age in orieentering sport. This study is the first report about AR in adolescent orienteers. Future researchs should more focus on comparing allergic conditions between outdoor and indoor sports.

Do antithyroid antibodies affect hearing outcomes in patients with pediatric euthyroid Hashimoto's thyroiditis?

OBJECTIVES: Hashimoto's thyroiditis (HT) is the most common autoimmune thyroid disease in children. HT is a multifaceted disease with a variable clinicopathological presentation, including hearing impairment. It is known that hearing function is negatively affected in patients with thyroid disorders. The literature includes a very limited number of studies on hearing function in euthyroid pediatric patients with HT. The aim of this study was to determine the relationship between cochlear function and HT, independent of thyroid function. MATERIALS AND METHODS: The study included 48 children and adolescents (42 females and 6 males) aged 9-18 years that were diagnosed as HT, and 30 gender- and age-matched healthy controls. Hearing was assessed via otoscopy, tympanometry, pure-tone audiometry, and measurement of distortion product otoacoustic emissions. RESULTS: There weren't any significant differences in pure tone thresholds between the 2 groups based on pure-tone audiometry, except in the right ear at 6kHz and 8kHz. Distortion product otoacoustic emissions signal to noise ratios were significantly lower in the HT group than in the control group at 4 different frequencies (6kHz [left ear], 8kHz [left ear], 1.5kHz [right ear], and 6kHz [right ear]) (P<0.05). The signal to noise ratios at all frequencies were <6dB in 3% of left ears and 2.5% of right ears in the control group, versus 12.5% of left ears and 9.6% of right ears in the HT group. Distortion product amplitudes were significantly lower in the HT group than in the control group for both left and right ears at 1kHz, 1.5kHz, 3kHz, and 8kHz, and at 2kHz for left ears only (P<0.05). CONCLUSIONS: The present findings show that cochlear function was lower in the HT group than in the control group. Accordingly, we think that hearing in patients with HT should be monitored periodically, even if their hearing thresholds are within normal limits. Thyroid autoimmunity appears to play an important role in a decrease in cochlear activity in pediatric HT patients.

In vitro interferon γ improves the oxidative burst activity of neutrophils in patients with chronic granulomatous disease with a subtype of gp91phox deficiency.

AIM OF THIS STUDY: Chronic granulomatous disease (CGD) is a genetically heterogeneous primary immunodeficiency caused by a defect in phagocyte production of oxygen metabolites, and resulting in infections produced by catalase-positive microorganisms and fungi. Interferon γ (IFN-γ) has a multitude of effects on the immune system. Although preliminary studies with CGD patients on treatment with IFN-γ showed that it enhanced phagocytosis and superoxide production, ongoing studies did not reveal a significant increase of this function. Here we investigated the oxidative capacity of phagocytes in different subtypes of CGD patients on treatment with IFN-γ in vitro. MATERIAL AND METHODS: Fifty-seven patients with CGD from 14 immunology centres were enrolled to our multi-centre study. Twenty-one patients were studied as controls. Oxidative burst assay with dihydrorhodamine 123 (DHR) was used and the stimulation index (SI) was calculated with respect to CGD subtypes in both neutrophils and monocytes before, and then one and 24 hours after adding IFN-γ. RESULTS: Upon comparison of the SIs of the patients' neutrophils before in vitro IFN-γ at hour 0, and after adding IFN-γ at hour 1 and 24 were compared, and the differences were determined between hours 0-24 and hours 1-24. This difference was especially apparent between hours 1-24. In CGD subtypes, particularly in gp91phox subtype, it was seen that, following in vitro IFN-γ, SIs of neutrophils began to increase after hour 1, and that increase became more apparent at hour 24. CONCLUSIONS: Our study showed that IFN-γ treatment may increase the oxidative bursting activity by increasing the superoxide production in neutrophils, particularly in gp91phox subtype.

Incidence and follow-up outcomes of developmental hip dysplasia of newborns in the Western Mediterranean Region.

The aim of our study was to determine the incidence of developmental hip dysplasia (DHD) in the Western Mediterranean Region of Turkey and evaluate follow-up results of physiologically immature hips classified as type 2 according to Graf classification. Ultrasononographic examinations of the hips were performed using Graf's technique on 1162 infants (2324 hips) referred to our clinic for hip ultrasounds between March 2013 and March 2014. DHD was detected in 1.36% of 1162 infants. Among infants who were brought into repetitive follow-ups, 191 out of type 2a hip displasias of 201 infants were improved to type 1 and 10 type 2a hip dysplasias worsened. Sonographically worsened tip 2a group consisted of 4 type 2b, 6 type 2c DHDs. Hip ultrasound performed during neonatal period and infancy in the detection of developmental hip dysplasias and follow-up of hip dysplasias diagnosed as type 2a convey importance because of sonographically detected potential deterioration.

Cutaneous leukocytoclastic vasculitis due to Salmonella enteritidis in a child with interleukin-12 receptor beta-1 deficiency.

Defects in the interleukin 12 (IL-12)/interferon gamma (IFN-γ) pathway result in Mendelian susceptibility to mycobacterial disease (MSMD). IL-12 receptor beta 1 (IL-12Rß1) deficiency, the most common form of MSMD, is associated with weakly virulent mycobacteria and salmonella. Infections in patients with this deficiency are extraintestinal, or septicemic, recurrent infections with nontyphoid salmonellae. Here we report a case of an IL-12Rß1 deficiency with cutaneous leukocytoclastic vasculitis due to Salmonella enteritidis.

Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.

BACKGROUND: Inherited deficiencies of IL-10 or IL-10 receptor (IL-10R) lead to immune dysregulation with life-threatening early-onset enterocolitis. OBJECTIVES: We sought to gather clinical data of IL-10/IL-10R-deficient patients and devise guidelines for diagnosis and management, including hematopoietic stem cell transplantation (HSCT). METHODS: We enrolled 40 patients with early-onset enterocolitis and screened for mutations in IL10/IL10R using genetic studies, functional studies, or both of the IL-10 signaling pathway. Medical records of IL-10/IL-10R-deficient patients were reviewed and compiled. RESULTS: Of 40 patients, we identified 7 with novel mutations, predominantly in consanguineous families with more than 1 affected member. IL-10/IL-10R-deficient patients had intractable enterocolitis, perianal disease, and fistula formation. HSCT was carried out in 2 patients with IL-10 deficiency and 1 patient with IL-10R α chain deficiency and proved to be an effective therapy, leading to rapid improvement of clinical symptoms and quality of life. CONCLUSION: Because the defect in patients with IL-10/IL-10R deficiency resides in hematopoietic lineage cells and their colitis is resistant to standard immunosuppressive therapy, HSCT should be considered early as a potentially curative therapeutic option.

Screening for hypercalciuria in schoolchildren: what should be the criteria for diagnosis?

The methodologies to diagnose hypercalciuria have not yet been standardized. The aims of this study were to assess the correlation between urinary calcium/creatinine ratio (UCa/Cr) > or = 0.21 (mg/mg) and 24 h urinary calcium excretions and to determine the reference values of the UCa/Cr ratio among a large population of schoolchildren in southern Turkey. Non-fasting, second morning urine samples were collected from 2,143 children aged 7-14 years. In children with suspected hypercalciuria [UCa/Cr > or = 0.21 (mg/mg)], 24 h urine samples were collected. The 95th percentile values of the UCa/Cr ratio for each age were calculated and showed a decrease in value with advancing age. In all, 269 (12.5%) of the children had UCa/Cr > or = 0.21 (mg/mg), of whom 66 (24.5%) had daily urinary calcium excretion > or =4 mg/kg per day. A weak correlation was found between spot UCa/Cr ratios and daily urinary calcium excretions in children with UCa/Cr > or = 0.21 (r = 0.27). We conclude that a spot UCa/Cr ratio of 0.21 (mg/mg) as the upper limit of normal cannot be used universally to define hypercalciuria. Age-specific reference values for UCa/Cr should be established for each population, to be used as a screening test for hypercalciuria, and the definite diagnosis should be established with 24 h urinary calcium excretion whenever possible.