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Panagiotis Mourmouris, Marinos Berdempes, Titos Markopoulos, Lazaros Lazarou, Lazaros Tzelves, Andreas Skolarikos Second Department of Urology, Athens Medical School, National and Kapodistrian University of Athens, Sismanogleio General Hospital, Athens, Greece Abstract: Percutaneous nephrolithotomy (PCNL) is the gold standard procedure for treatment of large stones and complex kidney disorders, but its morbidity remains the highest among stone treatment procedures. In pursuit of minimizing complication rates, surgeons have developed different variations of the classic prone position in which PCNL is usually performed; one among them is supine position. In this study, we review the literature and present all available evidence on different variations in positioning during PCNL, in an effort to identify if there is a position that can minimize the morbidity of this procedure. Keywords: percutaneous nephrolithotomy, prone, supine, complications

Aim-Background: To review the rare entity of gastroenteropancreatic neuroendocrine tumours (GEP NETs) and to present multimodality therapeutic approaches for liver metastases in this group of patients. Case Report: We describe the case of a 57-year-old gentleman who presented at the Emergency Department with symptoms of complete large bowel obstruction due to a splenic flexure tumour. The patient underwent tumour extirpation by an extended left hemicolectomy with end colostomy (transverse colon), while multiple liver metastases (both lobes) were also palpated. His postoperative course was without any major complications and he was referred to a tertiary centre for further evaluation and treatment. Histology of the specimen was remarkable for low grade large bowel neuroendocrine carcinoma (G3 WHO 2010) pT3, N2b (TNM 2009). Results: Small NETs can be managed with local resection but larger tumours require formal resection of the involved organ with its adjacent lymph nodes, staging of the disease and planning of further treatment. Octreoscan identifies the need for adjuvant therapy with somatostatin analogues. Hepatectomy, with or without preoperative contralateral of the affected lobe portal vein embolisation, is performed on patients with metastases isolated to one lobe, while orthotopic liver transplantation is reserved for patients meeting standard criteria. Conclusions: The rarity of GEP-NETs along with the variations in their presenting symptoms is a challenging diagnosis for the attending physician. Surgical therapy remains the cornerstone of treatment, while numerous adjuncts (RFA, PRRT, SIRT, TACE) serve in the multimodality approach for patients with unresectable liver metastases. [ABSTRACT FROM AUTHOR]

The results of DNA analysis are presented for a series of 90 couples, with one partner at 50% risk for Huntington's disease (HD), who were referred for exclusion testing in pregnancy over a three year period. Thirty-seven couples were studied in detail. The aims of the study were to evaluate attitudes towards prenatal testing, before pregnancy and afterwards, and the effectiveness of our counseling and methods of organising the service. Problems which could arise in relation to presymptomatic testing are documented. It is concluded that exclusion testing is a valuable form of prediction for some couples, particularly where family structure does not permit prediction for the person at risk. The need for intensive counselling was highlighted by the difficulties experienced by many couples in understanding how the test worked. Particular ethical and organisational problems may arise which require careful consideration beforehand and some recommendations are made. The proportion of couples who will continue to request exclusion testing as pre-symptomatic testing becomes more widely applicable remains unknown. [ABSTRACT FROM PUBLISHER]

Thirteen South Wales kindreds with adult polycystic kidney disease have been studied for genetic linkage using the alpha globin and 3'HVR probes. A maximum lod score of 24.187 was found at a recombination fraction of 0.03. This study supports the existence of a single locus on chromosome 16 responsible for the disorder. [ABSTRACT FROM PUBLISHER]

Between 1987 and 1990 a large series of at-risk individuals has been referred to our Huntington's disease (HD) presymptomatic testing programme. A detailed protocol for assessment and counselling has been followed. Out of 238 serious inquiries, 36% were potentially suitable for the testing programme, but 19% chose not to continue. Reasons for exclusion included the presence of clinical features of HD and being under the age of 18 years. Out of 40 final results given to 38 individuals, 23 indicated a lowered risk, 11 an increased risk, while five results were uninformative, two of these becoming informative on repeat testing. This series contained more women than men, and was disproportionately from the higher socio-economic groups. Motives for requesting a test principally related to child-bearing, informing existing children, and planning for the future. No significant psychiatric symptoms have been reported in the short term, but difficult counselling problems were presented by the high proportion of applicants who already showed clinical signs of HD. It is concluded that a detailed counselling protocol is essential in testing for HD, as many applicants are ill-prepared; this will assume even greater importance when the HD gene is identified and a test for specific mutations is available. The experience of presymptomatic testing for HD provides important general lessons which are likely to be applicable to other inherited neurological and psychiatric disorders. [ABSTRACT FROM AUTHOR]

The search for the Huntington's disease gene has recently concentrated on the telomere of the short arm of chromosome 4. The evidence suggesting this position has been based on single crossover events, but there is conflicting evidence regarding the position of the gene relative to the most terminal markers. We have found significant linkage disequilibrium between the markers D4S98 (probe BS731B-C) and D4S95 (probe BS674E-D) and HD, which supports a localisation for the gene proximal to D4S90 and makes a telomeric localisation unlikely. This disequilibrium may also prove to be important in the future in allowing modification of risk estimates based on genetic linkage. [ABSTRACT FROM PUBLISHER]