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Most patients with ADPKD do not need molecular genetic testing. When indicated, Sanger sequencing is the most commonly used technique. When a pathogenic mutation is not identified by Sanger, multiplex ligation-dependent probe amplification analysis (MLPA) should be performed to detect gene rearrangement (insertion or deletion). The next generation sequencing (NGS) techniques can provide high-throughput and comprehensive diagnostic screening at lower cost. Finally, in the future, targeted (TS) or whole exome sequencing (WES) will likely play a role in the molecular diagnostics of ADPKD. Molecular genetic testing is indicated in several conditions: no family history; equivocal/atypical renal imaging; marked discordant disease within family; early and severe PKD; reproductive counseling and pre-implantation genetic diagnosis; related living donor transplantation.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent genetic disease, characterized by progressive development of bilateral renal cysts. Two causative genes have been identified: PKD1 and PKD2. ADPKD phenotype is highly variable. Typically, ADPKD is an adult onset disease. However, occasionally, ADPKD manifests as very early onset disease. The phenotypic variability of ADPKD can be explained at three genetic levels: genic, allelic and gene modifier effects. Recent advances in molecular screening for PKD gene mutations and the introduction of the new next generation sequencing (NGS)- based genotyping approach have generated considerable improvement regarding the knowledge of genetic basis of ADPKD. The purpose of this article is to provide a comprehensive review of the genetics of ADPKD, focusing on new insights in genotype-phenotype correlation and exploring novel clinical approach to genetic testing. Evaluation of these new genetic information requires a multidisciplinary approach involving a nephrologist and a clinical geneticist.

Aim: The relationship between periodontal disease and preterm labour has been target of several studies with contrasting findings. The aim of this study is to verify the association between periodontal diseases in pregnant women and threatened preterm labour (TPL)., Methods: Two hundred and twenty pregnant women were enrolled in a matched prospective case-control study. Matching factors were age, parity and date of admission. Cases were defined as women admitted with a diagnosis of TPL before the 37th week; controls were defined as women with term labour (= or > 37 weeks) in the same ward. Primary exposure was defined as the presence of at least one tooth with probing depth (PD) >6 mm and BOP+. Average pocket depth, full-mouth bleeding on probing (FMBS) and the presence of plaque (FMPS) were also investigated. Matched univariate (McNemar's test and Wilcoxon signed rank test) and multivariate (conditional logistic regression model) analyses were performed., Results: At least one PD >6 mm BOP+ was found in 30 TPL cases (27.3%) and 37 controls (33.6%), without significant difference (P=0.27). There was also no difference was found in shallow pockets. The average pocket depth was similar in TPL cases (2.67 mm) and controls (2.78 mm) (P=0.29). The average FMPS was 56.4% in the cases and 50.7% in the controls, while FMPS was 36.5% and 39.6%, respectively, though these differences are not statistically significant (P=0.26 and P=0.42, respectively)., Conclusion: From our study, there seems to be no association between threatened pre-term labour and periodontal disease.

Introduction: We stress the importance of dynamic radiologic studies of swallowing in the patients submitted to reconstructive laryngectomy., Material and Methods: January, 1989, to December, 1996, we examined 36 patients submitted to reconstructive laryngectomy, namely cricohyoidoepiglottopexy in 34 cases, cricohyoidopexy in 1 case and Guerrier's cricohyoidoepiglottopexy in 1 case. Dynamic radiologic studies were performed with fluoroscopic videorecording (Sony U-Matic RM 580) from an X-ray unit. The study was performed with the patients standing or sitting, initially acquiring AP and LL fluoroscopic images of the oropharyngeal region at rest and during swallowing. The patients then swallowed 2 boluses of 5 ml liquid (60%) and semiliquid (250%) barium. When aspiration was suspected, we began with a 2-ml bolus., Results: The patients were grouped by symptoms: group A patients had no symptoms, group B patients had dysphagia and group C patients presented aspiration. The functional changes were: reduced pharyngeal contraction, reduced epiglottis deflection, reduced hyoid bone elevation, aspiration, altered upper esophageal sphincter function. The organic alterations were: parapharyngeal diverticulum, pharyngeal stenosis, posterior pharyngeal wall introflexion. Three group A patients had severe posterior pharyngeal wall introflexion, 4 had marked retention and 2 of them presented postswallowing aspiration. Two group B patients had major retention, 1 cricopharyngeal incoordination, 3 posterior pharyngeal wall introflexion, 2 a pseudodiverticulum and 2 a luminal stenosis. Seven group C patients had intraswallowing and 3 postswallowing aspiration., Conclusion: The videofluorographic identification of organic and functional complications, sometimes unknown in asymptomatic patients, is useful for therapy and suggests the speech specialist the best compensatory mechanism to improve the patients' swallowing and consequently their quality of life. Moreover, videofluorography of swallowing is a very useful tool in the follow-up, to monitor treatment outcome after rehabilitation.

Growing skull fractures are a rare complication of head injury with a dome fracture. The cases described in literature highlight a higher frequency of this pathology in children under than over three years of age. The authors describe 4 personal cases, underlying the clinical, diagnostic and therapeutic aspects. The aetiological hypothesis of a dural tear and its anatomic-pathological evolution are investigated. The surgical technique of dural and bony repair is also discussed. The authors conclude that this complication must be recognized early in order to obtain very good results after surgical therapy.

42 cases concerning symptomatic intracranial circulation aneurysms and spontaneous SAH have been observed by the authors during the period 1965-1984; 37 of them were treated from 1970 on. This group represents 2.6% in the number of patients treated for SAH during the above mentioned period in the series of Pavia and Verona Neurosurgery. In 7 cases angiography did not evidence any malformation responsible for the hemorrhage. These cases have been defined as "sine materia" SAH. In 33 cases was documented the presence of an intracranial aneurysm as responsible for the hemorrhage. In the 2 remaining cases was found an aneurysm that even if unbroken had manifested itself. In 4 cases aneurysms were mycotic ones. The most frequent sites of aneurysms have been the carotid artery bifurcation and the middle cerebral artery 24% each one followed by the anterior communicating artery 21%. 5 patients were younger than 4 years and each one had peculiar clinical features. The 37 remaining patients were older than 9 years and have been subdivided in 2 groups: 16 patients from 9 to 15 years old in who the most common site of the aneurysm was the carotid artery bifurcation and the middle cerebral artery (31%) and the frequency of intracerebral hematoma was 50%; 21 patients from 16 to 20 years old in who the most common site of the aneurysm was the anterior communicating artery (33%) and the presence of an intracerebral hematoma was markedly inferior (14%). 23 of the 35 patients having an aneurysm underwent a surgical procedure for its exclusion. Operative mortality rate was nearly 5% and morbidity rate was nearly 12%. 5 patients who were in agony when admitted were not operated; 5 patients had a conservative therapy and in 2 of them an angiography performed at distance from the hemorrhage revealed the disappearance of the aneurysm. Clinical disturbances bound to ischemic phenomenons by cerebral vasospasm were observed in only 3 patients--all of them older than 17--in who a CT scan had showed a conspicuous cisternal blood suffusion. In 13% of cases appeared hydrocephalus and only in 3 cases was necessary to perform a shunt. The global results of therapy have been significantly better than in adults having 74% of good results and 19% of deaths. This prognostic improvement is probably due both to the well known recovery from neurological failure in young patients and to the very low incidence of ischemic manifestations from vasospasm in this range of age.

Four cases of bone and pulmonary metastases of medulloblastoma histologically diagnosed and with an exhaustive clinical-radiological and scintigraphic documentation, are described. In three patients, one of which non operated, the metastases of the osteolytic and osteoblastic type affected diffusely the skeleton; in the fourth patient the bone lesions were associated with a single pulmonary metastasis. The modality of metastatic spread and the clinical course of the illness in the diagnostic and therapeutic aspects are discussed.