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Abstract: Climatotherapy has been shown to have beneficial effects in asthma. Recent studies confirm the improvement of obstructive pulmonary disease, regression of bronchial hyperreactivity, and diminution of markers of inflammation during stays at high altitude. Reduction in the level of allergen is considered to be one of the most significant consequences of climatotherapy. In addition to its direct therapeutic benefits, climatotherapy incorporates comprehensive care including patient education and physical rehabilitation for asthmatic patients. [Copyright &y& Elsevier]

Background: The incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown. The purpose of the study was to unravel environmental markers associated with T1D., Methods: Cases were children with T1D from the French Isis-Diab cohort. Controls were schoolmates or friends of the patients. Parents were asked to fill a 845-item questionnaire investigating the child's environment before diagnosis. The analysis took into account the matching between cases and controls. A second analysis used propensity score methods., Results: We found a negative association of several lifestyle variables, gastroenteritis episodes, dental hygiene, hazelnut cocoa spread consumption, wasp and bee stings with T1D, consumption of vegetables from a farm and death of a pet by old age., Conclusions: The found statistical association of new environmental markers with T1D calls for replication in other cohorts and investigation of new environmental areas., Trial Registration: Clinical-Trial.gov NCT02212522 . Registered August 6, 2014.

Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an unknown genetic cause and hallmarks that include insulin resistance and lack of subcutaneous fat. We ascertained two unrelated individuals with SHORT syndrome, hypothesized that the observed phenotype was most likely due to de novo mutations in the same gene, and performed whole-exome sequencing in the two probands and their unaffected parents. We then confirmed our initial observations in four other subjects with SHORT syndrome from three families, as well as 14 unrelated subjects presenting with syndromic insulin resistance and/or generalized lipoatrophy associated with dysmorphic features and growth retardation. Overall, we identified in nine affected individuals from eight families de novo or inherited PIK3R1 mutations, including a mutational hotspot (c.1945C>T [p.Arg649Trp]) present in four families. PIK3R1 encodes the p85α, p55α, and p50α regulatory subunits of class IA phosphatidylinositol 3 kinases (PI3Ks), which are known to play a key role in insulin signaling. Functional data from fibroblasts derived from individuals with PIK3R1 mutations showed severe insulin resistance for both proximal and distal PI3K-dependent signaling. Our findings extend the genetic causes of severe insulin-resistance syndromes and provide important information with respect to the function of PIK3R1 in normal development and its role in human diseases, including growth delay, Rieger anomaly and other ocular affections, insulin resistance, diabetes, paucity of fat, and ovarian cysts., (Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Unlabelled: Maldigestion in cystic fibrosis (CF) affects approximately 90% of patients. As soon as pancreatic insufficiency is identified, enzyme supplementation is prescribed even with breast fed infants. A pancreatic enzyme preparation developed particularly for infants, Creon for children (CfC), contains smaller granules to be administered with a dosing spoon (5000 lipase units per scoop)., Patients and Methods: In a prospective, randomised, multi-centre study, 40 infants and toddlers received both CfC and Creon 10000 (C10) for two weeks each in a cross-over design. Dosing of pancreatic enzymes was continued as applied before the study. The primary endpoint was the parents' treatment preference. Secondary endpoints included coefficient of fat absorption (CFA), clinical symptoms and safety parameters., Results: 20 parents (51%) from the N=39 intent to treat sample preferred CfC, 9 (23%) preferred C10, and 10 (26%) had no preference The applied doses led to a mean CFA with similar results for both treatments (77.8% vs. 78.7%). Gastrointestinal symptoms were reported on a number of study days, and some children had abnormal results for laboratory parameters of malabsorption. Safety and tolerability of the preparations were good and all these parameters were comparable for both treatments., Conclusion: Those parents who had a preference favoured CfC over C10. Both enzyme preparations improved malabsorption to a similar degree, although the applied dosages could have been too low in some children reflected in a suboptimal CFA. These data support the use of CfC for young patients with cystic fibrosis improving the daily care of this cohort detected mainly now through neonatal screening programmes.

Introduction: Aspergillosis colonisation in cystic fibrosis (CF), usually due to Aspergillus fumigatus (AF), classically presents as allergic bronchopulmonary aspergillosis. However, aspergillus infection can produce a range of manifestations: from minor colonization to an invasive infection., Case Report: A 14-year-old CF patient, chronically colonized with Staphylococcus aureus and Pseudomonas aeruginosa, presented with acute right-sided chest pain, a moderate fever and no modification of the sputum. The chest X-ray showed a 5 cm round opacity. Laboratory parameters were WBC 24,500 G/l, CRP 27 mg/l, Total IgE 1527 UI/l, Specific Aspergillus fumigatus IgE 31 UI/l. Bronchoscopy revealed external compression of the middle lobe bronchus with mucopurulent secretions coming from apical segment of the lower lobe. Bronchoalveolar lavage revealed the presence of pseudomonas aeruginosa 103 CFA/ml, staph aureus 107 CFA/ml and one colony of AF. Chest CT scan showed a large necrotic mass with an air-fluid level located in the apical segment of the right lower lobe. Initial therapy with itraconazole and corticosteroid was replaced by voriconazole, caspofungin, metronidazole and linezolide. Treatment was well tolerated and after 8 weeks the chest X-ray appearances had returned to normal., Conclusions: The possible diagnoses and therapeutic options are discussed. Conventional antifungal treatment with amphotericin B is limited by nephrotoxicity. These newer antifungal agents appear to be effective and well-tolerated.

Extra-pulmonary tuberculosis (EPT) accounts for around 25% of cases of the disease, and around 20% in children. In Pott's disease and other forms of bone and joint involvement (globally 10-15% of EPT cases), modern imaging techniques like MRI scan have improved diagnosis and follow-up of treatment outcomes. Tuberculous meningitis has not disappeared even in BCG vaccinated children and remains a severe form of the disease. Techniques like the polymerase chain reaction and MRI contribute to an early diagnosis and controversy persists regarding the role of corticosteroid therapy in the treatment strategy. Other localisations are rare in children, including tuberculosis of the urogenital tract, infection of the digestive tract or pericarditis.

Poor clearance of airway secretions contributes to the pulmonary disease in cystic fibrosis (CF). Bronchodilator therapy might benefit in CF, but the efficacy is controversial. Effects of mucolytic agents have not been demonstrated conclusively. Only, efficacy of recombinant human deoxyribonuclease (rhDNase) is established with a rapid onset of benefit.