Ataxia-telangiectasia (A-T) is a neurodegenerative and primary immunodeficiency disorder (PID) characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient’s needs. Besides the classical ataxia-telangiectasia (classical A-T) phenotype, a variant phenotype (variant A-T) exists with partly overlapping but some distinctive disease characteristics. Here we present a case series of 6 patients with classical A-T and variant A-T, which illustrates the phenotypic variability of A-T that can present in childhood with prominent extrapyramidal features, with or without cerebellar ataxia. We report the clinical data, together with a detailed genotype description, immunological analyses, and related expression of the ATM protein. We show that the presence of some residual ATM kinase activity leads to the clinical phenotype variant A-T that differs from the classical A-T. Our data illustrate that the diagnosis of the variant form of A-T can be delayed and difficult, while early recognition of the variant form as well as the classical A-T is a prerequisite for providing a correct prognosis and appropriate rehabilitation and support, including the avoidance of diagnostic X-ray procedures, given the increased risk of malignancies and the higher risk for side effects of subsequent cancer treatment.
Background: The prevalence of respiratory allergies is increasing worldwide, with important consequences especially for little children. Objective: The aim of this study was to assess the prevalence of respiratory allergies, such as rhinitis and asthma, and to point out the risk factors and their relationship with allergic diseases in a specific area of Northern Italy. Methods: 110 children, male and female, from our outpatient service for allergic children, between 3 and 17 years old, were examined. After a skin prick test and a nasal cytology, the written questionnaire of the International Study of Asthma and Allergies in Childhood was filled by parents together with their children. Results: 110 children were examined. 74% of children had rhinitis and 71% asthma. 88 patients were allergic, grass pollen and house dust mite was the most frequent allergens. A family history of atopy, family background, geographic area, active and passive smoking and home pets were associated to allergies. Older children (6-15 years old) had more often rhinitis associated with asthma and conjunctivitis as compared to younger. 21 Children were also affected by non allergic rhinitis. Conclusions: Respiratory allergies are widespread and associated to a low quality of life among little children. Sensitization to Ragweed is increasing with important consequences. Rhinitis precedes the onset of asthmatic symptoms. Moreover non allergic rhinitis is increasing and frequently underdiagnosed.
The prevalence of asthma and rhinitis is on the increase and these conditions are frequently associated, thus leading to the concept that these two conditions are different aspects of the same disease: "one airway, one disease" [2]. Most of patients with allergic (80%) and non-allergic asthma (75%) have concomitant rhinitis, while, approximately 34% of patients with allergic rhinitis and 25% of patients with non-allergic have concomitant asthma [2,3]. Although upper and lower airway diseases commonly occur together, clinicians have yet to determine the exact nature of the association between these two chronic conditions and to test the hypothesis that treating rhinitis reduces health care utilization for co-morbid asthma [4].In the present study, we used FeNO and nasal cytology to investigate upper and lower airway inflammation and the clinical benefits of nasal treatment in children with asthma. Methods and Study Population Study populationA total of 84 patients, 4-17 years of age, 53 males and 31 females, coming from the allergology outpatient "Filippo del Ponte", were clinically examined from 1 November 2013 to 31 July 2014. All participants were interviewed about respiratory symptoms thanks to ACT (Asthma Control Test) or C-ACT (Childhood-Asthma Control Test) and SNOT (Sino-Nasal Outcome Test); lung function and airway inflammation were measured using HyPAIR FeNO and nasal cytology in children free of treatment (systemic antihistamine and/or nasal steroids) for at least 10 days' time.Furthermore the allergic sensitization to common aeroallergens (birch, core, olive tree, grasses, ragweed, parietaria, dog, cat, house dust mite: DPP and DPF 1 , mould: alternaria) and foods (cow lactalbumin, cow casein, egg white and yolk, peanuts) was evaluated by skin prick-test and used to classify patients in two groups: allergic (72, 47 males and 25 females) and non-allergic (12, 6 males and 6 females). Histamine hydrochloride, 10 mg/mL, and phenolated glycerol-saline served as positive and negative controls. The reaction was regarded as positive if the mean wheal diameter was at least 3 mm greater than negative control [5].
Upper and lower airway disease is a common condition. Its prevalence is increasing in different areas of the world, but, at present, non-allergic rhinitis is underestimated. The aim of this study was to investigate FeNO (fractional exhaled nitric oxide) and nasal cytology in allergic and non-allergic patients, in order to reach a correct diagnosis. This study was performed on 120 children with rhinitis and/or asthma, evaluated by an allergist and an otolaryngologist. Skin prick-test and nasal cytology were tested in all patients; FeNO only in the asthmatic ones. The proportion of positive results in nasal cytology was higher in non-allergic than in allergic children: 22 out of 23 patients, vs 91 out of 97 patients. A significant correlation was found between FeNO levels and increase in nasal eosinophil counts. There is compelling evidence of a close relationship between upper and lower airway in asthma and rhinitis. The presence of rhinitis should always be investigated in children with asthma; therefore, FeNO and nasal cytology have clinical benefit both in allergic and non-allergic children. Our finding also supports the use of nasal cytology to evaluate non-allergic rhinitis (NAR).
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