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

Homo sapiens. La grande storia della diversit\ue0 umana

La grande esposizione internazionale Homo Sapiens - La grande storia della diversit\ue0 umana, tenutasi a Roma, presso il Palazzo delle Esposizioni, da novembre 2011 ad aprile 2012, \ue8 dedicata all\u2019ambizioso progetto di ricerca interdisciplinare fondato, fra gli altri, dal genetista italiano, ora professore emerito alla Stanford University, Luigi Luca Cavalli Sforza, che per decenni ha sondato i recessi pi\uf9 nascosti della storia profonda della diversit\ue0 umana, unendo molecole, fossili, culture e lingue in una cornice globale coerente di prove. Questa Mostra, curata da Luigi Luca Cavalli Sforza stesso e da Telmo Pievani, filosofo della scienza ed esperto di evoluzione, racconta da dove veniamo e come siamo riusciti, di espansione in espansione, a popolare l\u2019intero pianeta, costruendo il caleidoscopico mosaico della diversit\ue0 umana attuale. Le ricerche alla base della Mostra fanno di essa una sfida inedita e innovatrice nel campo della comunicazione della scienza: per la prima volta, infat ti, ricercatori di tut to il mondo, appartenent i a discipline molto diverse come la genetica, la linguistica, l\u2019antropologia, la paleoantropologia, la climatologia \u2013 hanno istituito un progetto di cooperazione sistematica per ricostruire le origini e i percorsi del popolamento umano, per scrivere l\u2019atlante del grande viaggio umano sulla Terra. Un approccio multidisciplinare e internazionale che si riflette sia nei contenuti della Mostra sia nella composizione del Comitato Scientifico e che offre per la prima volta al pubblico una visione d\u2019insieme aggiornata delle ricerche sul campo e dei risultati raggiunti. Lo scrivente ha partecipato all'ideazione ed alla realizzazione della mostra in qualit\ue0 di consulente per la sezione 'Linguistica', occupandosi della individuazione degli oggetti dei quali richiedere il prestito, della stesura dei pannelli esplicativi, della collocazione di oggetti e pannelli nell'ambito del percorso espositivo e della redazione dei testi per il catalogo

Oratorio. Una profezia che si rinnova

Il volume contiene un'articolata riflessione sul ruolo educativo dell'oratorio nel contesto della diocesi di Milano. Si intrecciano diverse prospettive: storica; pedagogica; teologica; pastorale

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

Effects of gestational and lactational exposure to heptachlor epoxide on age at puberty and reproductive function in men and women.

BackgroundFor 15 months in 1981-1982, the commercial milk supply on the Hawaiian island of Oahu was contaminated with heptachlor epoxide, a metabolite of the insecticide heptachlor, resulting in gestational and/or lactational exposure to offspring of women who drank cow milk during that period.ObjectiveTo determine whether gestational and lactational exposure to heptachlor epoxide alters reproductive function and age at puberty in men or women.Methods457 participants were recruited from a prior high school enrollment sampling frame of 20,000 adults born during 1981-1982 who lived on Oahu since at least first grade. Number of glasses of cow milk consumed weekly by the mother during the participant's gestation was used as a surrogate measure of heptachlor epoxide exposure. Reproductive function measures included semen analyses; reproductive hormones or their metabolites in daily urine specimens for one menstrual cycle; serum reproductive hormone levels in both sexes; and reported ages of onset for pubertal milestones.ResultsWe observed no strong associations of heptachlor epoxide exposure during gestation and lactation with reproductive endpoints. In females, heptachlor epoxide exposure was associated with longer luteal phase length and slower drop in the ratio of estradiol to progesterone metabolites after ovulation. In males, heptachlor epoxide exposure was weakly associated with higher serum follicle stimulating hormone and luteinizing hormone concentrations, but no dose-response relationship was apparent.ConclusionsThe results provide limited evidence that gestational and lactational exposure to heptachlor epoxide, due to milk contamination on Oahu in 1981-1982, resulted in clinically significant disturbances of reproductive function in men or women

Effects of gestational and lactational exposure to heptachlor epoxide on age at puberty and reproductive function in men and women.

BACKGROUND: For 15 months in 1981-1982, the commercial milk supply on the Hawaiian island of Oahu was contaminated with heptachlor epoxide, a metabolite of the insecticide heptachlor, resulting in gestational and/or lactational exposure to offspring of women who drank cow milk during that period. OBJECTIVE: To determine whether gestational and lactational exposure to heptachlor epoxide alters reproductive function and age at puberty in men or women. METHODS: 457 participants were recruited from a prior high school enrollment sampling frame of 20,000 adults born during 1981-1982 who lived on Oahu since at least first grade. Number of glasses of cow milk consumed weekly by the mother during the participant's gestation was used as a surrogate measure of heptachlor epoxide exposure. Reproductive function measures included semen analyses; reproductive hormones or their metabolites in daily urine specimens for one menstrual cycle; serum reproductive hormone levels in both sexes; and reported ages of onset for pubertal milestones. RESULTS: We observed no strong associations of heptachlor epoxide exposure during gestation and lactation with reproductive endpoints. In females, heptachlor epoxide exposure was associated with longer luteal phase length and slower drop in the ratio of estradiol to progesterone metabolites after ovulation. In males, heptachlor epoxide exposure was weakly associated with higher serum follicle stimulating hormone and luteinizing hormone concentrations, but no dose-response relationship was apparent. CONCLUSIONS: The results provide limited evidence that gestational and lactational exposure to heptachlor epoxide, due to milk contamination on Oahu in 1981-1982, resulted in clinically significant disturbances of reproductive function in men or women

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