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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.

Stevens–Johnson syndrome and toxic epidermal necrolysis are severe mucocutaneous reactions involving at least two mucosal surfaces and resulting in cutaneous eruption. They are frequently associated with infection and drug use. The best-known infectious cause is Mycoplasma pneumoniae, while antiepileptics are often among the drugs giving rise to these conditions. We describe two patients with suspected Stevens–Johnson syndrome and cutaneous eruption, which were primarily attributed to carbamazepine therapy. Another important shared feature in these two cases is that following an initial improvement in lesions in both patients, an increase in lesions and worsening of clinical picture after initiation of levetiracetam therapy was noted. One of the patients was found to be HLA-B 1502 positive, which is a known risk factor for carbamazepine-induced Stevens–Johnson syndrome. Levetiracetam therapy, which is regarded as safe in terms of cutaneous reactions, if chosen following such reactions due to another antiepilepsy medication, may be capable of reactivating Stevens–Johnson syndrome and toxic epidermal necrolysis as was seen in our patients.

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

Background The severe cutaneous adverse drug reactions (SCARs) are rare but could be life-threatening. These include drug reaction with eosinophilia and systemic symptoms (DRESS), Stevens-Johnson syndrome, toxic epidermal necrolysis (TEN), and acute generalized exanthematous pustulosis. Objective The purpose of this study was the evaluation of the clinical characteristics of patients with the diagnosis of SCARs. Methods Patients who were diagnosed with SCARs between January 2011 and May 2016 by pediatric allergy clinics in the provinces of Ankara, Trabzon, Izmir, Adana, and Bolu were included in this multicenter study. Clinical and laboratory findings, the time between suspected drug intake and development of clinical findings, treatments they have received, and length of recovery time were recorded. Results Fifty-eight patients with SCARs were included in this study. The median age of the patients was 8.2 years (interquartile range, 5.25-13 years) and 50% (n = 29) were males. Diagnosis was Stevens-Johnson syndrome/TEN in 60.4% (n = 35), DRESS in 27.6% (n = 16), and acute generalized exanthematous pustulosis in 12% (n = 7) of the patients. In 93.1% of the patients, drugs were the cause of the reactions. Antibiotics ranked first among the drugs (51.7%) and antiepileptic drugs were the second (31%) most common. A patient who was diagnosed with TEN developed lagophthalmos and a patient who was diagnosed with DRESS developed secondary diabetes mellitus. Only 1 patient with the diagnosis of TEN died. Conclusions SCARs in children are not common but potentially serious. Early diagnosis and appropriate treatment of SCARs will reduce the incidence of morbidity and mortality.

Background Although kiwifruit is known as a common cause of food allergy, population-based studies concerning the prevalence of kiwifruit allergy do not exist. We aimed to determine the prevalence and clinical characteristics of IgE-mediated kiwifruit allergy in 6–18-year-old urban schoolchildren in a region where kiwifruit is widely cultivated. Methods This cross-sectional study recruited 20,800 of the randomly selected 6–18-year-old urban schoolchildren from the Rize city in the eastern Black Sea region of Turkey during 2013. Following a self-administered questionnaire completed by the parents and the child, consenting children were invited for skin prick tests (SPTs) and oral food challenges (OFCs). Children with suspected IgE-mediated kiwifruit were skin prick tested with kiwifruit (commercial allergen and prick-to-prick test with fresh kiwifruit) and a pre-defined panel of allergens (banana, avocado, latex, sesame seed, birch, timothy, hazel, cat, Dermatophagoides pteronyssinus, and Dermatophagoides farinae). All children with a positive SPT to kiwifruit were invited for an open OFC. The prevalence of IgE-mediated kiwifruit allergy was established using open OFCs. Results The response rate to the questionnaire was 75.9% (15783/20800). The estimated prevalence of parental-perceived IgE-mediated kiwifruit allergy was 0.5% (72/15783) (95% CI, 0.39–0.61%). Of the 72 children, 52 (72.2%) were skin tested, and 17 (32.7%) were found to be positive to kiwifruit with both commercial extract and kiwifruit. The most frequently reported symptoms in kiwifruit SPT-positive children were cutaneous (n = 10, 58.8%) followed by gastrointestinal (n = 6, 35.3%) and bronchial (n = 4, 23.5%). Oral symptoms were reported in six (35.3%) children. All children who were kiwifruit positive by SPT were found positive during the oral challenge. The confirmed prevalence of IgE-mediated kiwifruit allergy by means of open OFC in 6–18-year-old urban schoolchildren living in Rize city was 0.10% (95% CI, 0.06–0.16). Conclusion Prevalence of parental-perceived and clinically confirmed kiwifruit allergy is not consistent. In contrast to expectations, kiwifruit allergy prevalence was low in a city where it is cultivated and highly consumed.

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.

Skin prick testing is the diagnostic procedure for allergies and is considered to be safe. It is usually performed using the prick and the prick-to-prick method. Herein is described a pediatric case of anaphylaxis during prick-to-prick testing with raw fish in a patient who had consumed fish without any systemic allergic reactions beforehand, to illustrate that skin prick testing should be carefully planned and performed with caution in order to avoid potentially serious risks for the patient.

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.

Cardiac involvement, such as pericarditis, myocarditis, and endocarditis, is seen in juvenile idiopathic arthritis. Although there have been some reports about right-ventricular systolic and diastolic functions of adults with rheumatoid arthritis and left-ventricular systolic and diastolic functions of children with JIA, there have been no studies about RV functions of children with JIA. The aim of this study was to determine RV functions in children with JIA. We performed conventional echocardiography and tissue Doppler imaging measurements of the right ventricle of patients with JIA. All patients were in sinus rhythm at the time of examination without overt LV heart failure and with normal LV ejection fraction. Fifty-five children with the diagnosis of JIA and 33 healthy control subjects were included in the study. Peak systolic, early, and late diastolic tricuspid annular velocities were significantly decreased in JIA patients compared with healthy controls (p < 0.05). Isovolumic accelaration (IVA), as a measure of myocardial acceleration during isovolumic contraction of the right ventricle, was also significantly lower in JIA patients than in healthy controls (p < 0.05). RV systolic and diastolic functions, in addition to the previously shown LV functions, are affected in JIA patients. IVA decreases in JIA patients and may be used as an alternative, noninvasive parameter for the assessment of RV systolic function in children with JIA.

Background: We aimed to evaluate the cause, clinical profile, and short-term outcome of status epilepticus cases that were admitted to our pediatric emergency unit between 1 January and 31 December 2008. Methods: We studied the clinical features of 59 seizures that occurred in 56 patients aged between 3 months and 15 years with the diagnosis of status epilepticus. We observed the clinical course and outcome of 53 cases for 6 to 18 months. The correlation between the cause of the seizure and the patient's age at the time of status epilepticus was evaluated as well as the correlation between the risk of seizure recurrence and family history of seizure, the neurological status of the patient prior to seizure and the presence of epilepsy. Results: The most common cause of status epilepticus is febrile illness in children younger than 2 years and idiopathic/cryptogenic and remote symptomatic causes in children older than 2 years. The rate of recurrence of seizure was significantly higher in cases with existing neurological abnormalities, prior epilepsy and seizures with remote symptomatic causes. The most common triggering factors of status epilepticus development in cases with epilepsy were noncompliance for anti-epileptic drugs and infectious fever. Conclusions: In our study, the risk factors for seizure recurrence were the presence of prior epilepsy, existence of neurological abnormalities and remote symptomatic causes. We argue that improving the compliance of patients and their families to take medicine appropriately and training them in how to cope with febrile illnesses may decrease the recurrence of seizures.

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.

Hematopoietic stem cell transplantation (HSCT) outcomes in X-linked severe combined immune deficiency are most effective when performed with patients

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].

We aimed to evaluate the cause, clinical profile, and short-term outcome of status epilepticus cases that were admitted to our pediatric emergency unit between 1 January and 31 December 2008.We studied the clinical features of 59 seizures that occurred in 56 patients aged between 3 months and 15 years with the diagnosis of status epilepticus. We observed the clinical course and outcome of 53 cases for 6 to 18 months. The correlation between the cause of the seizure and the patient's age at the time of status epilepticus was evaluated as well as the correlation between the risk of seizure recurrence and family history of seizure, the neurological status of the patient prior to seizure and the presence of epilepsy.The most common cause of status epilepticus is febrile illness in children younger than 2 years and idiopathic/cryptogenic and remote symptomatic causes in children older than 2 years. The rate of recurrence of seizure was significantly higher in cases with existing neurological abnormalities, prior epilepsy and seizures with remote symptomatic causes. The most common triggering factors of status epilepticus development in cases with epilepsy were noncompliance for anti-epileptic drugs and infectious fever.In our study, the risk factors for seizure recurrence were the presence of prior epilepsy, existence of neurological abnormalities and remote symptomatic causes. We argue that improving the compliance of patients and their families to take medicine appropriately and training them in how to cope with febrile illnesses may decrease the recurrence of seizures.