11 research outputs found

    Epidemiology and clinical aspects of Werner'ssyndrome in North Sardinia: description of a cluster.

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    Werner syndrome (WS, MIM#277700) is a very rare autosomal recessive disorder. WS clinical signs include altered distribution of subcutaneous fat, juvenile bilateral cataracts, a mask-like face and bird-like nose, trophic ulcers of the feet, diabetes mellitus, and premature atherosclerosis. The habitus is characteristic, with short stature, stocky trunk and slender extremities. WS frequency has been roughly estimated to be 1: 100,000 in Japan and 1: 1,000,000-1: 10,000,000 outside of Japan. The only exception to the latter data can be seen in the clustering of WS in Sardinia. Since 2001, 5 new cases have been observed: 4 members of the same family and I sporadic case. Therefore, since 1982 the total number of cases described in North Sardinia amounts to 18: 15 are familial (I I members of the same family group) and 3 sporadic. A short clinical description of the 5 new cases is reported

    Development and multicenter international validation of a diagnostic tool to differentiate between pemphigoid gestationis and polymorphic eruption of pregnancy

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    BACKGROUND: Pemphigoid gestationis (PG) and polymorphic eruption of pregnancy (PEP) may be similar morphologically but confer different maternal and fetal risks. Direct immunofluorescence is the gold standard test used to differentiate between the 2 diagnoses but is not always available. OBJECTIVE: To develop and validate a clinical scoring system to differentiate PG from PEP. METHODS: After developing a scoring system based on differentiating clinical factors reported in existing literature, we tested its diagnostic accuracy in a retrospective international multicenter validation study in collaboration with the European Academy of Dermatology and Venereology's Skin Diseases in Pregnancy Taskforce. RESULTS: Nineteen pregnancies (16 patients) affected by PG and 39 pregnancies (39 patients) affected by PEP met inclusion criteria. PG had a mean score of 4.6 (SD, 2.5) and PEP had a mean score of -0.3 (SD, 2.0). The area under the curve was 0.93 (95% CI, 0.86-1.00). Univariate analysis revealed that almost all criteria used in the scoring system were significantly different between the groups (P < .05), except for skip pregnancy and multiple gestations, which were then removed from the final scoring system. LIMITATIONS: Small retrospective study. CONCLUSION: The Pregnancy Dermatoses Clinical Scoring System may be useful to differentiate PG from PEP in resource-limited settings.Published version, accepted version (12 month embargo)Not hel

    Quali varietĂ  di triticale seminare nel 2016-2017

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    Significativi attacchi di ruggine gialla associati a scarse precipitazioni sulle Isole e a diffusi fenomeni di allettamento al Centro e al Nord hanno influito negativamente su tutte le medie produttive. Le rese sono pertanto state inferiori rispetto al 2015, con 6,5 t/ha al Nord, 4,6 al Centro e 3,5 al Sud e Isol

    Speciale Frumento in campo. Grano duro: le varietĂ  consigliate.

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    Valutati 40 genotipi, di cui 7 al primo anno di prova, in 34 campi dislocati in 14 regioni nei principali areali di coltivazione. La varietà mediamente più produttiva è risultata Antalis, molto stabile (medie superate nell’88% delle prove), caratterizzata da peso ettolitrico superiore alla media e proteina leggermente inferiore. Seguono Monastir, con peso ettolitrico e proteina leggermente inferiori alle medie, Claudio, molto stabile, e la novità Platone, con rese più variabili nei diversi ambienti, entrambe con ottimo peso ettolitrico associato a tenore proteico di poco più basso della media. Per rese e proteine superiori alle medie vanno inoltre segnalate: Marco Aurelio, con basso peso ettolitrico medio, Furio Camillo, Marakas e Ettore, unica tra queste anche con peso specifico maggiore di 80.0 kg/hl
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