Search

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene. Enteropathy, endocrinopathy and skin manifestations are considered the classic triad of IPEX syndrome. However, the patients with IPEX syndrome display a variety of phenotypes including life threatening multi-organ autoimmunity. Here, we present the case of two siblings with IPEX syndrome with the same hemizygous mutation, but with different types of symptomology at onset of the disease.

Asthma remains one of the most important challenges to pediatric public health in the US. A large majority of children with persistent and chronic asthma demonstrate aeroallergen sensitization, which remains a pivotal risk factor associated with the development of persistent, progressive asthma throughout life. In individuals with a tendency toward Type 2 inflammation, sensitization and exposure to high concentrations of offending allergens is associated with increased risk for development of, and impairment from, asthma. The cascade of biological responses to allergens is primarily mediated through IgE antibodies and their production is further stimulated by IgE responses to antigen exposure. In addition, circulating IgE impairs innate anti-viral immune responses. The latter effect could magnify the effects of another early life exposure associated with increased risk of the development of asthma – viral infections. Omalizumab binds to circulating IgE and thus ablates antigen signaling through IgE-related mechanisms. Further, it has been shown restore IFN-α response to rhinovirus and to reduce asthma exacerbations during the viral season. We therefore hypothesized that early blockade of IgE and IgE mediated responses with omalizumab would prevent the development and reduce the severity of asthma in those at high risk for developing asthma. Herein, we describe a double-blind, placebo-controlled trial of omalizumab in 2–3 year old children at high risk for development of asthma to prevent the development and reduce the severity of asthma. We describe the rationale, methods, and lessons learned in implementing this potentially transformative trial aimed at prevention of asthma.

BACKGROUND: Inner city children are disproportionately affected by asthma and sleep-disordered breathing (SDB). However, little is known about the association SDB symptoms with asthma morbidity in this vulnerable population. OBJECTIVE: Assess the relationship between snoring frequency and asthma morbidity. METHODS: This study was part of The School Inner-City Asthma Study, a longitudinal prospective cohort study of children with persistent asthma who attended schools in the Northeast United States from 2008 to 2013. Participants had baseline assessments of asthma symptoms, snoring and allergy status. Caregivers completed quarterly surveys for 12 months on symptoms of asthma, snoring and healthcare outcomes. Snoring frequency (non-, rare-, sometimes-, habitual-snoring) and its relationship with asthma symptoms and asthma morbidity were assessed by mixed-effects models. RESULTS: There were 1186 observations from 339 subjects. Mean age was 7.9 years; roughly half were male and majority were of minority race. Half were overweight or obese and 65.5% had atopy. At initial snoring assessment, 24.8% reported habitual snoring but report of snoring frequency varied over the study period. Multivariate analyses revealed increased odds of maximum asthma symptom days for habitual snoring compared to non-snoring (1.58 95% CI 1.19-2.10, p

Severe asthma in children is associated with significant morbidity. Children with severe asthma are at increased risk for adverse outcomes including medication-related side effects, life-threatening exacerbations, and impaired quality of life. It is important to differentiate between severe therapy resistant asthma and difficult-to-treat asthma due to comorbidities. The most common problems that need to be excluded before a diagnosis of severe asthma can be made are poor medication adherence, poor medication technique or incorrect diagnosis of asthma. Difficult to treat asthma is a much more common reason for persistent symptoms and exacerbations and can be managed if comorbidities are clearly addressed. Children with persistent symptoms and exacerbations despite correct inhaler technique and good medical adherence to standard Step 4 asthma therapies according to the guidelines1,2, should be referred to an asthma specialist with expertise in severe asthma. Keywords: Asthma evaluation, Asthma management, Difficult to treat asthma, Pediatric severe asthma, Severe asthma evaluation

WOS: 000452049900006 Objective: Platelets play a role in the pathogenesis of inflammation beside hemostasis. Mean platelet volume (MPV) is used as a biomarker of platelet activation. Although the platelet's role in the pathogenesis of allergic diseases is well known, the MPV value is still controversial in allergic diseases. The objective is to observe the changes of the MPV value in patients with allergic diseases and patients receiving subcutaneous venom and aeroallergen immunotherapy (SCIT). Materials and Methods: Patients who are followed by our pediatric allergy and immunology clinic were enrolled in the study. The study group included patients with atopic dermatitis, food allergy, chronic urticaria, allergic rhinitis, asthma and obese asthmatics. The control group consisted of age- and gender-matched and otherwise healthy children. The value of MPV was recorded and compared to the control group's value. The value of MPV was evaluated at the beginning and at the second year of SCIT. Results: Study subgroups included patients with atopic dermatitis (n:132), food allergy (n:47), allergic rhinitis (n:48), chronic urticaria (n:102), asthma (n:22), and obese asthmatics (n:31). The value of MPV was not statistically different between the patient and control groups. The severity of atopic dermatitis, autoimmunity of chronic urticaria and presence of obesity in asthmatic patients did not influence the value of MPV. The beginning and the second year median (IQR) MPV levels of the patients receiving SCIT were 7.5 (7.1-8.1) fl and 8.6 (7.6-9.2) fl respectively in the aeroallergen immunotherapy (IT) group, and 7.9 (7.2-8.4) fl and 8.8 (8.3-9.3) fl respectively in the venom immunotherapy (VIT) group (p

Kawasaki disease is the second most common cause of childhood vasculitis. Cutaneous manifestation, which is the diagnostic criteria of Kawasaki disease, may show atypical course and causes conflict in diagnosis for physicians. A 14-month-old girl treated with intravenous immunoglobulin after diagnosed with KD. Target lesions and a vesicular rash developed on the whole body during the course of the disease. Methylprednisolone was added to the treatment. All atypical skin lesions and disease findings were improved using IVIG and subsequent methylprednisolone therapy. Cutaneous signs of KD may show atypical course. Thus, it may lead to confusion in diagnosis with Stevens-Johnson syndrome.

Annual Meeting of the American-Academy-of-Allergy-Asthma-and-Immunology (AAAAI) -- MAR 03-16, 2017 -- Atlanta, GA, WOS: 000401699800366, …, Amer Acad Allergy, Asthma & Immunol

Objective: Despite the high rate of consumption in our country, the definite prevalence of any nut allergy is not known. The aim of this study was to evaluate the prevalence and clinical characteristics of hazelnut and other nut allergies in Giresun, a city where hazelnut is cultivated in large amounts. Materials and Methods: This study was a cross-sectional study. The prevalence and clinical characteristics of IgE-mediated nut allergy was investigated with the survey method in 6000 randomly selected children, between the ages of 6 and 17 years, from three kindergarden, nine primary schools and two high schools located in the city center of Giresun. Results: The response rate to questionnaires was 82.0% (4932/6000), and the reported prevalence of nut allergy was 2.7% (134/4932). Among patients who accepted the telephone survey, 49 were thought to have a possible IgE-mediated allergic reaction with nuts. Of them, 25 were female and the mean age was 12.6±3.2 years (between ages 6 and 17 years) and 65.3% of the children had associated atopic disease. Reported prevalence of hazelnut, peanut, pistachio and walnut was 0.4%, 0.3%, 0.2% and 0.1% respectively. The most common symptoms were cutaneous and respiratory. The reactions most commonly occurred at home. Conclusion: The prevalence of nut allergy is low and the clinical symptoms are mild among school-aged children living in Giresun. Children with suspected nut allergy should be referred to allergy clinics for further evaluation as nuts may cause sudden and lifethreatening reactions.

Aim: The purpose of this study was to evaluate prospectively the age-related incidence and severity of primary vesicoureteral reflux (VUR) in siblings of children with reflux and to conclude whether screening of this group is required or not. Methods: A total of 71 siblings (32 boys, 39 girls) of reflux patients, aged less than 15 years (mean age, 8.4 years) were included in the study. Examination methods including urinalysis, urine culture, renal ultrasonography, and voiding cystourethrography were performed in all of the siblings. Additionally, 99m technetium (Tc)-dimercaptosuccinic acid (DMSA) renal cortical scintigraphy was performed in siblings with VUR. Results: Primary VUR was found in 10 (14%) of the siblings, and the incidence for girls and boys were 41.7% and 9.3%, respectively. The reflux incidence in siblings aged less than 6 years was 40%, whereas in siblings older than 6 years it was found 60%. DMSA scintigraphy was performed on all the siblings with VUR, of whom 5 had normal and 5 had abnormal findings. Conclusion: The incidence of primary VUR in siblings of affected children was found higher compared to the siblings of children without the disease, supporting the necessity to screen this population.

However, the implementation of these guidelines has been fraught with many disappointments [2,3]. Observations and reports from all over the globe [4], with occasional exceptions, have confirmed these drawbacks. An opportunity is now open to think more creatively in this regard [5]. The crucial issue to be considered here is assesing the difference between two inter-related basic treatment concepts [6]; one is the clinical efficacy and the other one is the clinical effectiveness. Efficacy is a term in common use around clinical trial scenarios: a highly selected patient population is submitted to a specific treatment, usually in a double blind placebo-controlled manner. Characteristically, these trials show an intrinsic increased adherence to medications. Outcomes are measured on the basis of how many patients “get treated” vs. how many of these treated patients “get controlled”, as is the case for asthma. In contradistinction, effectiveness relates to the public health scenario: how many patients are there with asthma vs how many of those patients are controlled. Here, adherence issues pertain to the real life scenario.In essence, you may have the best treatment available but if it is not delivered in a comprehensive way, it ends up being with not much worth.For example, if such treatments also have severe adverse effects and/or require extensive health education for proper administration and/or have important limitations because of taste (the case for children), then treatment efficacy is downplayed [6].