Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. It is characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and sensorineural hearing loss (D) (DIDMOAD). The clinical picture may be complicated by other symptoms, such as urinary tract, endocrinological, psychiatric, and neurological abnormalities. WS1 is caused by mutations in the WFS1 gene located on chromosome 4p16 that encodes a transmembrane protein named wolframin. Many studies have shown that wolframin regulates some mechanisms of ER calcium homeostasis and therefore plays a role in cellular apoptosis. More than 200 mutations are responsible for WS1. However, abnormal phenotypes of WS with or without DM, inherited in an autosomal dominant mode and associated with one or more WFS1 mutations, have been found. Furthermore, recessive Wolfram-like disease without DM has been described. The prognosis of WS1 is poor, and the death occurs prematurely. Although there are no therapies that can slow or stop WS1, a careful clinical monitoring can help patients during the rapid progression of the disease, thus improving their quality of life. In this review, we describe natural history and etiology of WS1 and suggest criteria for a most pertinent approach to the diagnosis and clinical follow up. We also describe the hallmarks of new therapies for WS1.
BackgroundHypocalcemia is the most common complication of thyroid surgery. The aim of this study was to determine the early predictive factors of postoperative hypocalcemia and to analyze their efficiency.MethodsWe performed a retrospective study of 345 consecutive patients who underwent total thyroidectomy at the Endocrine Surgery Department (Policlinico G. Rodolico Hospital of Catania) between January 2011 and November 2013. We measured serum intact parathormone (iPTH) levels preoperatively and 4 h after surgery. The threshold values of hypocalcemia for iPTH levels and iPTH relative decline were obtained by receiver operating curves (ROC) analysis.ResultsThe incidence of hypocalcemia was 32.2% (111 of 345 patients). Our statistical analysis revealed that hypocalcemia rate was strongly correlated with the lower iPTH values and greater iPTH decline (P < 0.001). The threshold enabling prediction of hypocalcemia were 12,5 pg/mL for iPTH and 55,7% for relative iPTH decline. Patients with iPTH <12,5 pg/mL developed hypocalcemia in 58.6% of cases while those with iPTH ≥12,5 pg/dl in 18.8%. Among 175 patients with iPTH relative decline greater than 55,7% hypocalcemia was diagnosed in 91 cases (52%), while other 170 patients with iPTH relative decline less than 55,7% developed hypocalcemia only in 20 cases (11,7%).ConclusionsThe decreased iPTH levels and increased iPTH relative decline resulted to be an accurate predictive factors of postoperative hypocalcemia. The early administration of Calcium and vitamin D in the high-risk patients should be put on in order to prevent the symptoms of hypocalcemia and to reduce the costs and duration of hospitalization.
The data analyzed in this study showed that in the elderly we have a reduced secretion and metabolization of thyroid hormones. The symptomatology in the elderly is nonspecific and can create a delay in the correct diagnosis.
This article retraces the late modern and contemporary history of East Naples through its environmental transformations. By the end of the eighteenth century, this marshy rural/suburban area hosted small urban agglomerations and many proto-industrial activities, deeply intertwined with agricultural production. During the nineteenth century, the area experienced its deepest transformations as a result of the three parallel processes of drainage, urbanisation and industrialisation. On the threshold of the twentieth century, East Naples became an industrial suburb, home to an uncontrollable residential sprawl interspersed with factories. This inchoate suburban mix has determined the area's unsustainability, leading to those hygienic deficits, environmental risks and economic and social complications that have plagued it to this day.
La storia dell'area petroli di Napoli est è intimamente connessa alle dinamiche della produzioneindustriale locale e alle prospettive di riqualificazione del territorio. Le attività diquest'ampia area integrata, dedita sin dagli anni Venti alla raffinazione e alla distribuzionedel petrolio, hanno lungamente sostenuto la produzione secondaria e garantito l'approvvigionamentoenergetico della città di Napoli e del Mezzogiorno. Contestualmente, la presenzadell'area petroli si è rivelata inquinante e limitante per il territorio di Napoli est: l'ultimoquarto del Novecento è attraversato dai continui interventi volti a rimuovere e delocalizzarequesto "pozzo nero" di promiscuità funzionale, degrado ambientale e disordine nell'uso deglispazi dal tessuto urbano. Un'analisi storica di questi interventi, dei fondamenti delle loro ambizionie delle specifiche cause delle loro delusioni, può rivelare, nel presente, quanto la mancatadelocalizzazione dell'area petroli abbia limitato le prospettive di riqualificazione dell'interaarea orientale di Napoli.
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