A Case of Rapid-Onset Obesity with Hypothalamic Dysfunction,Hypoventilation, Autonomic Dysregulation,and Neural Crest Tumor: Rohhadnet Syndrome

ObjectiveRapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare disorder that mimics both common obesity and genetic obesity syndromes along with several endocrine disorders during early childhood. We aim to present the clinical features, laboratory and imaging results, and treatment outcomes of a patient with ROHHAD syndrome.MethodsIn this case report, we describe a 26-month-old boy who was admitted to our emergency department with dyspnea and cyanosis and was suspected to have ROHHAD syndrome due to his rapid-onset obesity and alveolar hypoventilation.ResultsA thoracal and abdominal magnetic resonance imaging was performed to demonstrate a possible accompanying neural crest tumor and it provided a yet asymptomatic retroperitoneal ganglioneuroblastoma. Based on these findings, the patient was diagnosed as ROHHADNET syndrome.ConclusionBecause of the high prevalence of cardiorespiratory arrest and probability of accompanying tumors, early recognition of ROHHAD syndrome is important. To prevent presumptive mortality and morbidity, ROHHAD syndrome should be considered in all cases of rapid and early-onset obesity associated with hypothalamic-pituitary endocrine dysfunctions. (Endocr Pract. 2013;19:e13-e16)     

Serum Myeloperoxidase as a Biomarker of Asthma Severity Among Adults: A Case Control Study

Background:The contribution of neutrophils is still indistinct in the inflammatory response of bronchial asthma (BAs). Myeloperoxidase (MPO) is an enzyme released from the primary azurophilic granules of the neutrophils. The study aimed to evaluate the levels of serum MPO as a biomarker for the assessment of the level of asthma control. Methods:The study participants included 94 asthmatic patients and 86 healthy controls. The identification of asthma severity had assessed using the ''''Global Initiative for Asthma guidelines''''. Asthmatic adults had divided into three groups: Good (n= 22), partial (n= 30), and poor control (n= 44). Also, patients have been divided again into two groups (treated and untreated) for BAs.Results:The predicted FEV1% and the peak expiratory flow (PEF/L) of all participants had verified by spirometry. The mean patients’ age was 31.9±15.1 year, with a predominance of females. The mean asthma duration was 10.5±8.6 years. Mean spirometric parameters (FEV1 and PEF) were significantly lower among the patients (0.00). Significant higher MPO levels had observed among BAs patients (p-0.00). The MPO levels have not differed significantly with asthma levels and had significant differences with the history of treatment. There was a nonsignificant negative correlation between the mean MPO levels and the spirometry variables among the patients. ROC curves revealed a sensitivity, specificity, accuracy for MPO (80.9%, 72.1%, and 84.3%), respectively to predict asthmatic severity.Conclusion:There were significantly higher MPO levels compared to healthy controls. Levels of serum MPO had a non-significant positive correlation with levels of asthma control, but a negative non-significant correlation with spirometric results. Key Words: Asthma, And Neutrophils, FEV1, MPO, PEF     

Neurofeedback Training for Tourette Syndrome: An Uncontrolled Single Case Study

Gilles de la Tourette syndrome (TS) is characterized by motor and vocal tic manifestations, often accompanied by behavioral, cognitive and affective dysfunctions. Electroencephalography of patients with TS has revealed reduced Sensorimotor Rhythm (SMR) and excessive fronto-central Theta activity, that presumably underlie motor and cognitive disturbances in TS. Some evidence exists that neurofeedback (NFB) training aimed at enhancing SMR amplitude is effective for reducing tics. The present report is an uncontrolled single case study where a NFB training protocol, involving combined SMR uptraining/Theta downtraining was delivered to a 17-year-old male with TS. After sixteen SMR-Theta sessions, six additional sessions were administered with SMR uptraining alone. SMR increase was better obtained when SMR uptraining was administered alone, whereas Theta decrease was observed after both trainings. The patient showed a reduction of tics and affective symptoms, and improvement of cognitive performance after both trainings. Overall, these findings suggest that Theta decrease might account for some clinical effects seen in conjunction with SMR uptraining. Future studies should clarify the feasibility of NFB protocols for patients with TS beyond SMR uptraining alone.     

Improving Influenza Vaccination Coverage in the Pediatric Asthma Population: The Case for Combined Methodologies

The Advisory Committee on Immunization Practices recommends annual influenza vaccine for pediatric asthma patients. Despite considerable risk for influenza complications in pediatric asthma patients, including hospitalization and death, influenza vaccination among children with asthma remains low, especially among low-income pediatric asthma patients. Multiple interventions have been attempted to increase immunization in the pediatric asthma population, including recall and reminders, parent/patient education, and physician education. More recently, information technology methods have been employed, including electronic alerts and computerized physician order entry/clinical decision support interventions. Each of these interventions, as well as a recent legislative intervention, has evidence of effectiveness, but none achieved the Healthy People 2020 vaccination goals of 80 percent for this population. This goal may be achievable with a combination of these methodologies and strategies that increase access to care for underserved patients.     

Vitamin D Supplementation for Childhood Asthma: A Systematic Review and Meta-Analysis

Importance

There is growing evidence that vitamin D plays a role in the pathogenesis of asthma but it is unclear whether supplementation during childhood may improve asthma outcomes.

Objectives

The objective of this systematic review and meta-analysis was to evaluate the efficacy and safety of vitamin D supplementation as a treatment or adjunct treatment for asthma.

Data Sources

We searched MEDLINE, Embase, CENTRAL, and CINAHL through July 2014.

Study Selection

We included RCTs that evaluated vitamin D supplementation in children versus active control or placebo for asthma.

Data Extraction and Synthesis

One reviewer extracted data and one reviewer verified data accuracy. We qualitatively summarized the main results of efficacy and safety and meta-analyzed data on comparable outcomes across studies. We used GRADE for strength of evidence.

Main Outcome Measures

Main planned outcomes measures were ED visits and hospitalizations. As secondary outcomes, we examined measures of asthma control, including frequency of asthma exacerbations, asthma symptom scores, measures of lung function, β₂-agonist use and daily steroid use, adverse events and 25-hydroxyvitamin D levels.

Results

Eight RCTs (one parallel, one crossover design) comprising 573 children aged 3 to 18 years were included. One study (moderate-quality, n = 100) reported significantly less ED visits for children treated with vitamin D. No other studies examined the primary outcome (ED visits and hospitalizations). There was a reduced risk of asthma exacerbations in children receiving vitamin D (low-quality; RR 0.41, 95% CI 0.27 to 0.63, 3 studies, n = 378). There was no significant effect for asthma symptom scores and lung function. The serum 25(OH)D level was higher in the vitamin D group at the end of the intervention (low-quality; MD 19.66 nmol/L, 95% CI 5.96 nmol/L to 33.37 nmol/L, 5 studies, n = 167).

Limitations

We identified a high degree of clinical diversity (interventions and outcomes) and methodological heterogeneity (sample size and risk of bias) in included trials.

Conclusions and Relevance

Randomized controlled trials provide some low-quality evidence to support vitamin D supplementation for the reduction of asthma exacerbations. Evidence on the benefits of vitamin D supplementation for other asthma-related outcomes in children is either limited or inconclusive. We recommend that future trials focus on patient-relevant outcomes that are comparable across studies, including standardized definitions of asthma exacerbations.     

A Genomewide Search for Quantitative-Trait Loci Underlying Asthma

A genomewide screen for quantitative-trait loci (QTLs) that underlie asthma was performed on 533 Chinese families with asthma, by the unified Haseman-Elston method. Nine asthma-related phenotypes were studied, including forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), airway responsiveness as indicated by methacholine (MTCH)-challenge test, serum total immunoglobulin E (TIgE), serum-specific immunoglobulin E, eosinophil count in peripheral blood, and skin-prick tests with three different allergens (cockroach, Dermatophagoides pteronyssinus, and D. farinae). Our study showed significant linkage between airway responsiveness to MTCH and D2S1780 on chromosome 2 (P<.00002) and provided suggestive evidence (P<.002) for six additional possible QTLs: D10S1435 and D22S685, for FEV1; D16S412, for FVC; D19S433, for airway responsiveness to MTCH; D1S518, for TIgE; and D4S1647, for skin reactivity to cockroach. No significant or suggestive evidence of linkage for the other four traits was found.