The EMBARC European Bronchiectasis Registry:protocol for an international observational study

Bronchiectasis is one of the most neglected diseases in respiratory medicine. There are no approved therapies and few large-scale, representative epidemiological studies. The EMBARC (European Multicentre Bronchiectasis Audit and Research Collaboration) registry is a prospective, pan-European observational study of patients with bronchiectasis. The inclusion criterion is a primary clinical diagnosis of bronchiectasis consisting of: 1) a clinical history consistent with bronchiectasis; and 2) computed tomography demonstrating bronchiectasis. Core exclusion criteria are: 1) bronchiectasis due to known cystic fibrosis; 2) age <18 years; and 3) patients who are unable or unwilling to provide informed consent. The study aims to enrol 1000 patients by April 2016 across at least 20 European countries, and 10 000 patients by March 2020. Patients will undergo a comprehensive baseline assessment and will be followed up annually for up to 5 years with the goal of providing high-quality longitudinal data on outcomes, treatment patterns and quality of life. Data from the registry will be available in the form of annual reports. and will be disseminated in conference presentations and peer-reviewed publications. The European Bronchiectasis Registry aims to make a major contribution to understanding the natural history of the disease, as well as guiding evidence-based decision making and facilitating large randomised controlled trials.info:eu-repo/semantics/publishedVersio

Treatment and long-term outcome in primary nephrogenic diabetes insipidus

Background: Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome. Methods: Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form. Results: Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0–60) years and at last follow-up 14.0 (0.1–70) years. In adults, height was normal with a mean (standard deviation) score of −0.39 (±1.0), yet there was increased prevalence of obesity (body mass index >30 kg/m2; 41% versus 16% European average; P < 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P < 0.001) received medications to reduce urine output. Patients ≥25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients. Conclusion: This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems

The Kidney Involvement In Inborn Errors Of Metabolism

Inborn errors of metabolism are characterized by a significant heterogeneity in pathophysiological mechanisms and clinical manifestations. A variety of kidney disorders, inherited or acquired, can consist clinical signs of metabolic disorders. The most frequent of them include Fanconi syndrome, renal tubular acidosis, nephrolithiasis, renal cysts and acute kidney injury. On the other hand, many types of inborn errors of metabolism (carbohydrate disorders, lysosomal disorders, organic acidemias, mitochondrial disorders, purine and pyrimidine disorders) can be associated with specific renal disorders. Investigation for renal manifestations should be a necessary part of the routine follow-up of these children, while the recognition ofnbsp specific patterns of renal involvement must raise suspicion for an underlying inborn error of metabolism

Gitelman syndrome: First report of genetically established diagnosis in Greece

Gitelman syndrome is an inherited renal tubular disorder characterized by hypokalemic metabolic alkalosis. It is distinguished from other hypokalemic tubulopathies, such as Bartter syndrome, by the presence of both hypomagnesemia and hypocalciuria. We report a case of Gitelman syndrome in a 10-year-old girl who presented for examination of persistent unexplained hypokalemia. She had no severe clinical symptoms but she had typical laboratory findings including hypokalemia, hypomagnesemia and normocalcemic hypocalciuria. Molecular analysis revealed a mutation in the exon 21 of the SLC12A3 gene which encodes the thiazide-sensitive sodium-chloride co-transporter expressed in the distal convoluted tubule (a guanine to adenosine substitution at nucleotide 2538). She was treated with oral potassium and magnesium supplements. This is the first report of genetically established diagnosis in Greece. Gitelman syndrome should be considered as a cause of persistent hypokalemia and genetic analysis might be a useful tool to confirm the diagnosis

The identity and professional culture of the educator at the beginning of the university path in Italy

To work as an educator in Italy has required a specific university degree for only a few years now. This change has institutionalized the educational path regarding some factual knowledge and skills. However, the profession of educator also relates to an experiential culture and to personal motivations affecting and sustaining each individual’s choice of the profession. This paper examines the ideas of professional identity held by a group of Italian students at the beginning of their college career. The sample includes two groups at the University of Padua, one group learning to teach in social work, one group learning to teach in health care. During the first three years of the new academic requirement, first-year students in both groups were qualitatively and quantitatively surveyed. In particular the study explores the reasons students orient towards these curricola, and the distinctive elements, competences, experiences and values they include in their image of an educator. Statistical multidimensional methods of data analysis are used

EDA, nella contemporaneit\ue0. Teorie, contesti e pratiche in Italia

La monografia contribuisce ad ampliare il patrimonio teorico e prassico che contraddistingue l\u2019ambito dell\u2019Educazione degli Adulti. Un\u2019area di ricerca, quest\u2019ultima, che pur collocandosi nel pi\uf9 ampio panorama dell\u2019apprendimento permanente e dell\u2019educazione per tutta la vita, si \ue8 legittimamente e opportunamente ritagliata un suo specifi-co campo di indagine/intervento, con contributi di grande pre-gnanza Lteorica e prassica. Il volume "EDA nella contemporaneit\ue0" presenta riflessioni teoriche, storiche, didattico-metodologiche ed esperienziali che si alternano, confrontano e intrecciano per perfezionare l\u2019affresco delle questioni educative, formative, autoformative e di cura, riguardanti le donne e gli uomini adulti, considerati nelle plurime appartenenze lavorative e non. Mettendo in luce le derive di alcune progettualit\ue0 educative e formative, ma anche per perfezionare le buone pratiche gi\ue0 esistenti e gli orientamenti praticabili, alla luce di nuove teorie e prassi