Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease. The age of onset of the first (beyond 3 months of life) neurological symptom may predict the severity of the disease and determines life expectancy.NPC has an estimated incidence of ~ 1: 100,000 and the rarity of the disease translate into misdiagnosis, delayed diagnosis and barriers to good care. For these reasons, we have developed clinical guidelines that define standard of care for NPC patients, foster shared care arrangements between expert centres and family physicians, and empower patients. The information contained in these guidelines was obtained through a systematic review of the literature and the experiences of the authors in their care of patients with NPC. We adopted the Appraisal of Guidelines for Research & Evaluation (AGREE II) system as method of choice for the guideline development process. We made a series of conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. These guidelines can inform care providers, care funders, patients and their carers of best practice of care for patients with NPC. In addition, these guidelines have identified gaps in the knowledge that must be filled by future research. It is anticipated that the implementation of these guidelines will lead to a step change in the quality of care for patients with NPC irrespective of their geographical location.

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A rare case of aneurysmal bone cyst (ABC) located in the mandibular condyle in a 10-year-old boy is presented. The patient came to our attention for a sudden swelling in the right temporomandibular region, the mouth opening was not reduced.A rapid growing mass, depicting soft tissue invasion, in the right condyle of the mandible was found. Clinically and radiographically it resembled to a malignant lesion. The surgical excision of the mandibular condyle allowed a complete removal of the lesion. The histological examination revealed a pseudocystic expanding osteolytic lesion containing blood-filled space separated by connective tissue and many osteoclastic giant cells, which was a conventional vascular ABC.The ABC is an infrequent bone lesion which can only be found very rarely at the craniofacial skeleton. There have been described about 160 cases of ABC originated in the molar region or in upper maxilla and even more rare is the location of this cyst in the mandibular condyle. Only 6 cases were reported in the literature to date.A complete surgical resection of this osteolytic lesion is the treatment of choice considering its high recurrence rate. The condyle was not replaced with any graft. Therefore a functional device was used after surgery to overcome the lack of the condyle and to stimulate the growth of the ramus.

The treatment of patients with atrophic ridge who need prosthetic rehabilitation is a common problem in oral and maxillofacial surgery. Among the various techniques introduced for the expansion of alveolar ridges with a horizontal bone deficit is the alveolar ridge split technique. The aim of this article is to give a description of some new tips that have been specifically designed for the treatment of atrophic ridges with transversal bone deficit. A two-step piezosurgical split technique is also described, based on specific osteotomies of the vestibular cortex and the use of a mandibular ramus graft as interpositional graft. A total of 15 patients were treated with the proposed new tips by our department. All the expanded areas were successful in providing an adequate width and height to insert implants according to the prosthetic plan and the proposed tips allowed obtaining the most from the alveolar ridge split technique and piezosurgery. These tips have made alveolar ridge split technique simple, safe, and effective for the treatment of horizontal and vertical bone defects. Furthermore the proposed piezosurgical split technique allows obtaining horizontal and vertical bone augmentation.

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Restless legs syndrome (RLS) is a possible consequence of end-stage renal disease. However, conclusive data on the association between RLS and chronic renal failure (CRF) in nondialyzed patients are still lacking. The aims of this study were: (1) to look for an association between RLS and CRF in nondialyzed patients; (2) to analyze the characteristics of RLS and its consequences on nocturnal rest in nondialyzed patients with CRF; (3) to identify possible predictors of RLS occurrence in nondialyzed patients with CRF. We recruited 138 nondialyzed patients with CRF (mean age: 69.8 +/- 11.7 years; male: 61.6%) and 151 controls (mean age: 60.2 +/- 18.6 years; male: 42.4%). An expert in sleep medicine investigated the presence of RLS by means of a face-to-face interview. Fifteen nondialyzed CRF patients and five controls were diagnosed as RLS affected. A multivariate analysis confirmed that RLS was independently associated with CRF in nondialyzed patients (P = 0.004). CRF patients RLS(+) were more commonly women and showed the presence of an iron deficiency compared with the RLS(-) ones. Independent predictors of RLS in nondialyzed CRF patients were: female sex (OR: 10.7, 95% CI: 2.2-31.3; P = 0.004) and percentage of transferrin saturation (OR: 0.6, 95% CI: 0.4-0.9; P = 0.04). This is the first case-control study able to recognize an association between RLS and CRF in patients not yet on dialysis. Nephrologists should investigate and treat RLS in their nondialyzed patients with CRF. In particular, physicians should carefully investigate women and patients with iron deficiency in the presence of RLS symptoms.

Loss of autofluorescence as an early phenomenon associated with tissue degeneration seems to be promising for the diagnosis of oral cancer. The method seems to make visible early structural and biochemical alterations of the oral mucosa not always evident under direct inspection of the oral cavity. For this reason, the margins of the mucosal lesions usually appear wider compared with direct visualization. Actual extension of the potentially malignant lesions must be precisely perceived to avoid any underestimation of the tumor. In this study, 32 patients at risk for oral cancer underwent autofluorescence test. Of these patients, 12 (group A) experienced potentially malignant diseases. The other 20 patients (group B) were previously operated on for oral cancer. In addition, 13 patients showed loss of autofluorescence (8 patients from group A and 5 patients from group B). Among these 13 patients, 12 were affected with lesions of relevance (in group A, 6 had squamocellular carcinoma and 2 had low-grade dysplasia; in group B, 2 patients had high-grade dysplasia, 2 had low-grade dysplasia, and 1 had an epithelial hypertrophy with inflammatory cells). Preliminary results seem to indicate that autofluorescence is a high-performing test for the individuation of oral cancer in populations at risk (sensibility up to 100% and specificity up to 93% in this study).