SVEP1 is important for morphogenesis of lymphatic system: Possible implications in lymphedema.

SVEP1, also known as Polydom, is a large extracellular mosaic protein with functions in protein interactions and adhesion. Since Svep1 knockout animals show severe edema and lymphatic system malformations, the aim of this study is to evaluate the presence of SVEP1 variants in patients with lymphedema. We analyzed DNA from 246 lymphedema patients for variants in known lymphedema genes, 235 of whom tested negative and underwent a second testing for new candidate genes, including SVEP1, as reported here. We found three samples with rare heterozygous missense single-nucleotide variants in the SVEP1 gene. In one family, healthy members were found to carry the same variants and reported some subclinical edema. Based on our findings and a review of the literature, we propose SVEP1 as a candidate gene that should be sequenced in patients with lymphatic malformations, with or without lymphedema, in order to investigate and add evidence on its possible involvement in the development of lymphedema.

CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families.

CYP26B1 is a member of the cytochrome P450 family and is responsible for the break-down of retinoic acid for which appropriate levels are important for normal development of the cardiovascular and lymphatic systems. In a cohort of 235 patients with lymphatic malformations, we performed genetic testing for the CYP26B1 gene. These probands had previously tested negative for known lymphedema genes. We identified two heterozygous missense CY-P26B1 variants in two patients. Our bioinformatic study suggested that alterations caused by these variants have no major effect on the overall stability of CYP26B1 protein structure. Balanced levels of retinoic acid maintained by CYP26B1 are crucial for the lymphatic system. We identified that CYP26B1 could be involved in predisposition for lymphedema. We propose that CYP26B1 be further explored as a new candidate gene for genetic testing of lymphedema patients.

Surgical complications of carotid body tumors surgery: a review.

Carotid body tumor (CBT) is a rare neoplasm, although it represents about 65% of head and neck paragangliomas. Surgical excision is considered the appropriate therapy for CBTs. The aim of this study was to evaluate surgical outcomes on a large scale. We reviewed 19 studies between 2004 to 2014 with a total of 625 procedures. We observed a higher number of cases in women (62%). Only 3 (0,48%) deaths were reported as surgical complication. Total cranial nerve injuries were 302 (48,32%) of which 194 (31,04%) were transient and 108 (17,28%) were permanent. We found a total of 174 (27,84%) arterial injuries, most of which are external carotid artery (ECA) injuries. Cerebrovascular accident due to surgery were 15 (2,4%). We concluded that surgical resection remains the treatment of choice for these disease despite the related morbidity.

Surgical margins of resection for breast cancer: current evidence.

Breast cancer is the most common form of cancer and second main cause of death in women in western countries. Breast-conserving therapy, consisting of lumpectomy and radiation therapy, has become the standard local treatment for T1-T2 breast tumors. There is general agreement that successful breast conservation requires complete tumor excision with a "tumor-free" or "negative" margin of resection, but the definition of a negative margin is controversial. A commonly accepted definition of adequate margins requires a 2-mm distance between ink and tumor but opinions range from the original National Surgical Adjuvant Breast and Bowel Project definition of "no ink on tumor", to a recommended width of 10 mm or more. The ability to perform real-time molecular imaging analysis of margins during surgery would clearly be a significant advance; several groups have engaged in this effort, with encouraging reports of preliminary data. Further development of such techniques promises to lead to a point at which accurate intraoperative margin evaluation may be possible and may even be combined with therapeutic interventions, using techniques such as photodynamic therapy.

Endovascular procedures in critical leg ischemia of elderly patients.

PURPOSE: Purpose of this study was to evaluate angiographic and clinical results of popliteal, infrapopliteal, and multi-level disease percutaneous transluminal angioplasty (PTA) in over-80 years old patients with chronical clitical leg ischemia. In fact such patients with extensive peripheral vascular disease and critical limb ischemia (CLI) are generally poor surgical candidates. METHODS: Between 1998 and 2003, 37 elderly patients aged 80-89 years old (mean age 83.3) with critical leg ischemia were treated with PTA. All patients were at high surgical risk. 31/37 (81.5%) patients had chronic non-healing wounds, and 14/37 (37%) had multi-level disease of superficial femoral, popliteal and crural arteries. One hundred and two lesions were treated by angioplasty. Immediate angiographic and 1 year clinical results were retrospectively analyzed. RESULTS: The overall procedural success rate was 32/37 (84.2%). There were three major complications (7.9%), but no deaths, and three technical failures, all were of infrapopliteal lesions. After 1 year, 27 patients could be followed, five patients died during the first year of unrelated causes. Twenty-three patients (85.2%), were clinically re-occluded within 1 year, but complete and partial wound healing was achieved in 80% (16/20) and rest pain improvement in 57% (4/7), so that overall limb salvage was 74% (20/27). CONCLUSIONS: Elderly patients with multi-level CCLI have a short patency term following angioplasty of 14.8% after 1 year. Nevertheless, this temporary vascular patency enables wound healing or improvement in 74% of these patients, thus such endovascular interventions are recommended in this age group.

[Role of intestinal resection in primary cytoreduction of ovarian cancer]. / Il ruolo della resezione intestinale nella citoriduzione primaria del cancro dell'ovaio.

BACKGROUND: The aim of this study is to define the role of the intestinal removal for the therapy of ovarian cancer in advanced stadium. METHODS: We have examined 247 females with epithelial ovarian cancer in advanced stadium, that had intestinal removal. RESULTS: The survival in the females that had a very good intestinal removal is greatest than in the females that hadn't a very good intestinal removal.

[Cytoreductive surgery in patients with stage IV ovarian carcinoma]. / La chirurgia citoriduttiva nelle pazienti con carcinoma dell'ovaio allo stadio IV.

BACKGROUND: The aim of this study is to evaluate the efficacy of cytoriductive surgical in females with ovarian carcinoma in advanced stadium, and to define the role of this surgical for the survival of females with hepatic metastases. METHODS: This is a retrospective study. 164 females with ovarian cancer in IV stadium was examined. 64 females had hepatic metastasis. All patients had cytoriductive surgical. RESULTS: The survival in the patients without hepatic metastasis was 38 months if the cytoreduction was very good; it was 18.3 months if there is residual disease. The survival in the patients with hepatic metastasis was 50.1 months if the cytoreduction was very good; it was 27 months if there is residual disease. CONCLUSIONS: A very good surgical is very important for the survival of patients with ovarian cancer in advanced stadium. This is true also in the patients with hepatic metastases.

[Meigs' syndrome and "Meigs' pseudo-syndrome." Report of 2 cases]. / Sindrome di Meigs e "pseudo-sindrome di Meigs". Descrizione di due casi.

BACKGROUND: The aim of this study is to investigate similitudis and differences between the Meigs' syndrome and Meigs' pseudosyndrom. The Meigs' syndrome is an uncommon disease that is characterized by benign ovarian tumor, ascites and pleural effusion. The Meigs' pseudosyndrom is a serious disease that is characterized by malignant ovarian tumor, ascites, pleural effusion. METHODS: We have examined two cases: a case of Meigs' syndrome that is characterized by vomit, abdominal pain, ascites, height serum Ca 125 level; a case of Meigs' pseudosyndrom that is characterized by ovarian adenocarcinoma that is diagnosticated owing to ascites and pleural effusion. CONCLUSIONS: This study suggest that the surgical therapy have a very important role for the complete remission of the disease in the Meigs' syndrome and for the remission of ascites and pleural effusion in the Meigs' pseudosyndrom.