Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene.

BACKGROUND AND PURPOSE: Although Labrune syndrome is a well-known disorder characterized by a typical neuroradiological triad, namely leukoencephalopathy, intracranial calcifications and cysts, there are no reports of systemic involvement in this disorder. This paper attempts to describe a peculiar clinical manifestation related to a novel mutation in the SNORD118 gene. METHODS: Clinical examination, brain and total-body imaging, and neurophysiological and ophthalmological investigations were performed. Amplification of the SNORD118 gene and Sanger sequencing were integrated to investigate potential causative mutations. RESULTS: A 69-year-old woman, with a long history of episodes of vertigo and gait imbalance, was referred to our hospital for progressive cognitive and motor deterioration. Computed tomography and magnetic resonance imaging disclosed diffuse bilateral leukoencephalopathy in periventricular and deep white matter, widespread calcifications and numerous cysts in the brain, liver, pancreas and kidneys. The genetic analysis revealed two biallelic variants in the SNORD118 gene, one of which is novel (n.60G>C). CONCLUSIONS: This is the first report of adult-onset Labrune syndrome with an unusual systemic involvement presenting a novel mutation in the SNORD118 gene.

Tips and tricks for a safe and effective image-guided percutaneous renal tumour ablation.

Image-guide thermal ablations are nowadays increasingly used to provide a minimally invasive treatment to patients with renal tumours, with reported good clinical results and low complications rate. Different ablative techniques can be applied, each with some advantages and disadvantages according to the clinical situation. Moreover, percutaneous ablation of renal tumours might be complex in cases where there is limited access for image guidance or a close proximity to critical structures, which can be unintentionally injured during treatment. In the present paper we offer an overview of the most commonly used ablative techniques and of the most important manoeuvres that can be applied to enhance the safety and effectiveness of percutaneous image-guided renal ablation. Emphasis is given to the different technical aspects of cryoablation, radiofrequency ablation, and microwave ablation, on the ideal operating room setting, optimal image guidance, application of fusion imaging and virtual navigation, and contrast enhanced ultrasound in the guidance and monitoring of the procedure. Moreover, a series of protective manoeuvre that can be used to avoid damage to surrounding sensitive structures is presented. A selection of cases of image-guided thermal ablation of renal tumours in which the discussed technique were used is presented and illustrated. TEACHING POINTS: • Cryoablation, radiofrequency and microwave ablation have different advantages and disadvantages. • US, CT, fusion imaging, and CEUS increase an effective image-guidance. • Different patient positioning and external compression may increase procedure feasibility. • Hydrodissection and gas insufflation are useful to displace surrounding critical structures. • Cold pyeloperfusion can reduce the thermal damage to the collecting system.

Treatments for colorectal liver metastases: A new focus on a familiar concept.

A major challenge for the management of advanced-colorectal-cancer is the multidisciplinary approach required for the treatment of liver metastases. Reducing the burden of liver metastases with liver-directed therapy has an important impact on both survival and health-related quality of life. This paper debates the rationale and current liver-directed approaches for colorectal liver metastases based on the evidence of literature and new clinical trials. Surgery is the gold standard, when feasible, and it's the main treatment goal for patients with potentially-resectable disease as a means of prolonging progression-free survival. Better tumor response rates with modern systemic therapy mean that more unresectable patients are now down-staged for radical resection following conversion therapy but for other patients, additional procedures are needed. In multiple unilobar disease, when the projected remnant liver is <30% of the total liver, portal embolization or selective-internal-radiation-therapy (SIRT) can induce hypertrophy of the healthy liver, leading to resectability. In multiple bilobar disease, in situ destruction of non-resectable lesions by minimally invasive techniques may be associated with liver resection to achieve potential curative intent. Other palliative liver-directed approaches, such as SIRT or intra-hepatic chemotherapy (HAI), which are associated with higher response rates, may also have role in down-staging patients for resection. Until recently, such technologies have not been validated in prospective controlled trials. However in the light of new Phase 3 data for SIRT as well as for HAI combined with modern therapies or radiofrequency ablation in the first- and second-line setting, the clinical value of these treatments needs to be re-appraised.

Interventional oncology in the elderly: complications and early response in liver and kidney malignancies.

OBJECTIVES: The complication rate, loco-regional responses and length of hospital stay were analyzed in patients with liver and kidney cancer older than 70years treated with interventional oncology procedures. The findings from the older population were compared with the younger patients (<70years) to detect any difference not related to chance. MATERIALS AND METHODS: Prospectively collected data on patients who underwent hepatic artery embolization (with or without radiofrequency ablation) and kidney radiofrequency ablation were retrospectively analyzed. Complication rates, loco-regional responses and length of hospital stay for patients older and younger than 70 were compared. RESULTS: 163 patients were treated, 66 (40.5%) older and 97 (59.5%) younger than 70years. The complication rate in patients older than 70 was 4.5% (3/66 pts) versus 3.1% (3/97 pts) (p=0.69) in the younger age-group. The complication rates for the liver embolization group, liver embolization plus radiofrequency and kidney radiofrequency group were 2/90 pts (2.2%), 2/42 pts (4.8%) and 2/31 pts (6.5%), respectively (p=0.46). Median hospital stay was three nights in both older and younger patients. Response rates were not significantly influenced by age. CONCLUSION: Liver embolization with or without radiofrequency and renal radiofrequency are safe and effective in older patients. Age alone should not be considered a contraindication to treatment in carefully selected patients.

High-intensity focused ultrasound (HIFU) in patients with solid malignancies: evaluation of feasibility, local tumour response and clinical results.

PURPOSE: The purpose of this study was to evaluate the safety and efficacy of ultrasound-guided high-intensity focused ultrasound (USgHIFU) for ablation of solid tumours without damaging the surrounding structures. MATERIALS AND METHODS: A specific written informed consent was obtained from every patient before treatment. From September 2008 to April 2009, 22 patients with 29 lesions were treated: nine patients with liver and/or soft-tissue metastases from colorectal carcinoma (CRC), six with pancreatic solid lesions, three with liver and/or bone metastases from breast cancer, one with osteosarcoma, one with muscle metastasis from lung cancer, one with iliac metastasis from multiple myeloma and one with abdominal liposarcoma. The mean diameter of tumours was 4.2 cm. All patients were evaluated 1 day, 1 month and 3 months after HIFU treatment by multidetector computed tomography (MDCT), positron-emission tomography (PET)-CT and clinical evaluation. The treatment time and adverse events were recorded. RESULTS: All patients had one treatment. Average treatment and sonication times were, respectively, 162.7 and 37.4 min. PET-CT or/and MDCT showed complete response in 11/13 liver metastases; all bone, soft-tissue and pancreatic lesions were palliated in symptoms, with complete response to PET-CT, MDCT or magnetic resonance imaging (MRI); the liposarcoma was almost completely ablated at MRI. Local oedema was observed in three patients. No other side effects were observed. All patients were discharged 1-3 days after treatment. CONCLUSIONS: According to our preliminary experience in a small number of patients, we conclude that HIFU ablation is a safe and feasible technique for locoregional treatment and is effective in pain control.

Best choice of central venous insertion site for the prevention of catheter-related complications in adult patients who need cancer therapy: a randomized trial.

BACKGROUND: Central venous access is extensively used in oncology, though practical information from randomized trials on the most convenient insertion modality and site is unavailable. METHODS: Four hundred and three patients eligible for receiving i.v. chemotherapy for solid tumors were randomly assigned to implantation of a single type of port (Bard Port, Bard Inc., Salt Lake City, UT), through a percutaneous landmark access to the internal jugular, a ultrasound (US)-guided access to the subclavian or a surgical cut-down access through the cephalic vein at the deltoid-pectoralis groove. Early and late complications were prospectively recorded until removal of the device, patient's death or ending of the study. RESULTS: Four hundred and one patients (99.9%) were assessable: 132 with the internal jugular, 136 with the subclavian and 133 with the cephalic vein access. The median follow-up was 356.5 days (range 0-1087). No differences were found for early complication rate in the three groups {internal jugular: 0% [95% confidence interval (CI) 0.0% to 2.7%], subclavian: 0% (95% CI 0.0% to 2.7%), cephalic: 1.5% (95% CI 0.1% to 5.3%)}. US-guided subclavian insertion site had significantly lower failures (e.g. failed attempts to place the catheter in agreement with the original arm of randomization, P = 0.001). Infections occurred in one, three and one patients (internal jugular, subclavian and cephalic access, respectively, P = 0.464), whereas venous thrombosis was observed in 15, 8 and 11 patients (P = 0.272). CONCLUSIONS: Central venous insertion modality and sites had no impact on either early or late complication rates, but US-guided subclavian insertion showed the lowest proportion of failures.

Institutional guidelines and ongoing studies in management of liver tumours: the experience of the European Institute of Oncology.

BACKGROUND: An institutional task force on upper gastrointestinal tumours is active at the European Institute of Oncology (EIO). Members decided to collate the institutional guidelines on management of liver tumours (primary and metastatic) into a document. This article is aimed at presenting the current treatment guidelines as well as ongoing research protocols and trials in this field at the EIO. METHODS: A steering committee convened to assign tasks to individual members. Contributions from experts in each treatment area were collated in a single document, in order to produce a draft for subsequent review from the aforementioned committee. Six drafts have been discussed and the final version approved. RESULTS: Surgical, medical oncology, interventional radiology, nuclear medicine and radiation therapy approaches, their roles in management of liver tumours and ongoing research trials are presented and discussed in this article. CONCLUSIONS: At the EIO a multi-disciplinary integrated approach to liver tumours is standard and several ongoing research projects are currently active in this field.

Finding the limit between station 2 and station 4 during right-sided thoracotomy.

In mediastinal dissection through a right thoracotomy, the definition of station 2 is arbitrary because no anatomical landmark indicates the line drawn tangentially to the upper margin of the aortic arch. We have developed a technique to localize it by evaluating the distance between the upper aortic arch and the azygos vein on a CT scan. This distance located intraoperatively above the azygos vein permits the surgeon to draw an imaginary line parallel to the azygos vein, which we consider to be the limit between station 2 and station 4. To verify the precision of the technique, an 8-mm clip was positioned at the intersection between the imaginary line dividing station 2 and station 4 and the superior vena cava in 38 consecutive right-sided lateral muscle-sparing thoracotomies. The definition of the station 2/4 limit was defined as "excellent" if the upper aortic arch line crossed the clips, "good" if clips were

Long-term endoscopic and clinical follow-up of untreated type 1 gastric neuroendocrine tumours.

BACKGROUND AND AIMS: Type 1 gastric neuroendocrine tumour surveillance and treatment are a matter of debate. Endoscopic, or surgical, resection and chronic somatostatin analog therapy have been proposed. Based on the favourable behaviour of this neoplasm, we performed an endoscopic and clinical follow-up in 11 patients affected by type 1 gastric neuroendocrine tumours, avoiding any specific treatment. METHODS: Between 1994 and 2006, we prospectively recorded the data of 11 untreated patients with type 1 gastric neuroendocrine tumours who underwent an endoscopic and clinical follow-up. All the patients were also evaluated by means of an abdominal computed tomography scan, somatostatin receptor scintigraphy and blood tests. RESULTS: During the follow-up (median 54 months, range 9-136), the endoscopic picture of 4 (36%) out of 11 patients changed in terms of increased number of lesions. In none of the cases were detected any lesions that exceeded 10mm in diameter, and none of the patients demonstrated any evidence of local or distant metastases. CONCLUSIONS: Our data confirm the literature data of the indolent behaviour of type 1 gastric neuroendocrine tumours and suggest that a careful endoscopic follow-up, without any treatment, might represent a reasonable and safe option in selected patients.

Resection of colorectal liver metastases following neoadjuvant chemotherapy.

BACKGROUND/AIMS: Hepatic resection in metastatic disease from colorectal cancer offers the best chance in selected cases for long-term survival. Neoadjuvant chemotherapy (NACT) has been advocated in some cases initially deemed irresectable, with few reports of the efficacy of such a strategy and the influence of the response to chemotherapy on the outcome of radical hepatic resection. METHODOLOGY: Between December 1995 and May 2005, 27 patients with colorectal liver metastases (seven males, 20 females, mean age: 58 ± 8 years; range: 40-75) were treated with neoadjuvant chemotherapy. A seven-year survival analysis was performed. Chemotherapy included mainly 5-fluorouracil, leucovorin and either oxaliplatin or irinotecan for a median of eight courses. RESULTS: A total of 16 patients (59%) had synchronous and 11 (41%) metachronous metastases. During pre-operative chemotherapy, tumour regression occurred in ten cases (37%), stable disease in a further ten patients (37%) and progressive disease developed in seven cases (26%). The five-year overall survival for NACT responders was 64% and only 15% for non-responders (p=0.044). CONCLUSIONS: The response to chemotherapy is likely to be a significant prognostic factor affecting survival after liver resection for cure.

Management of retrosternal goiters: experience of a surgical unit.

The aim of this study was to retrospectively analyze 5 years' experience of cervico-mediastinal goiters (CMG) management. Twenty-five patients with cervico-mediastinal goiters underwent surgery between January 1998 and December 2002. The group consisted of 16 females and 9 males (mean age, 48.2 years; range, 42-74 years). A total thyroidectomy under general anesthesia was always performed. A no. 7 Fogarty catheter with a 5-ml balloon was employed in the seven last cases to lift the retrosternal portion of the goiter into the neck. The mean postoperative stay was 3 days (range, 1-7 days), and the mean follow-up time was 29 months (range, 1-58 months). There were no postoperative deaths; overall morbidity rate was 28.0%. One patient with a severe life-threatening hematoma required surgical re-exploration. Surgery for CMGs shows a low morbidity rate; total thyroidectomy is the treatment of choice to prevent recurrences or re-surgery for malignancy.

Risk factors of morbidity in thyroid surgery: analysis of the last 5 years of experience in a general surgery unit.

The aim of this retrospective study is to analyze the risk factors of morbidity in thyroid surgery. From January 1997 to December 2001, 343 patients (69 males and 280 females, mean age 46.1) who underwent surgery under general anesthesia for thyroid disease were analyzed. In 22 (6.4%) cases the operation was a second thyroidectomy. The mean post-operative stay was 2 days (range: 1-7) and the mean follow-up was 21 months (range: 1-60 months). Statistical analysis of our data was performed by chi-square test and confirmed by Fisher exact test. The statistical analysis showed the significance of malignancy and re-surgery as risk factors of hypoparathyroidism and recurrent laryngeal nerve palsy. Sex, age, and type of operation had no influence on the medical records. The completion of thyroidectomy and histological malignancy increase the morbidity of thyroid surgery.

Magnetic resonance imaging combined with artificial erection for local staging of penile cancer.

OBJECTIVES: To assess magnetic resonance imaging (MRI) combined with artificial erection for local staging of penile cancer. METHODS: We compared local clinical, MRI plus artificial erection, and pathologic staging in 9 cases of penile cancer. Erection was obtained by injecting 10 microg prostaglandin E1 into the corpora cavernosa. T1-weighted and T2-weighted MRI with and without contrast was obtained using a phased array coil. Local treatment was based on tumor location and extent, as defined by the clinical and MRI findings. RESULTS: The histologic diagnosis was squamous cell carcinoma in 8 patients and sarcoma in 1. The MRI and pathologic staging coincided in 8 of 9 patients. MRI, clinical, and pathologic staging coincided in 5 patients: 4 had Stage T2 and 1 had Stage T1 disease. In 2 patients, the MRI and pathologic stage was T2, but the clinical stage differed. Another patient had Stage T2 clinically but T3 by MRI and pathologic staging. In the last patient, none of the stages coincided (clinical Stage T1, MRI Stage T0, and pathologic Stage Tis). The only complication during the procedure was that 1 patient developed priapism after prostaglandin injection, which was relieved by evacuation of the corpora cavernosa. CONCLUSIONS: To our knowledge, this is the first study to use artificial erection with MRI to stage local penile cancer. The method appears promising for local staging of penile cancer, but additional studies are necessary to confirm its utility.

Definitive palliation for neoplastic colonic obstruction using enteral stents: personal case-series with literature review.

Acute colonic obstruction due to malignancies is an emergency that requires surgical treatment. Elderly patients or inoperable tumors require intestinal decompression that is a simple colostomy in almost all cases. This "manoeuvre" leads the patient to a percentage of mortality/morbidity and to a bad quality of life due to acceptance of stoma. The introduction of enteral metal stent inserted endoscopically has, in our opinion, provided a new way to obtaining the definitive palliation of inoperable colo-rectal cancer with a simple method. We reported our case-series and we analyzed the current literature and costs of treatments.

Total thyroidectomy is improved by loupe magnification.

With this study, we verified if a microsurgical approach with magnification could improve the outcome of total thyroidectomy. Ninety-seven patients were consecutively randomized into group A (surgery with x 2.5 magnification and microsurgical instruments, n = 47) or group B (surgery with no magnification, n = 50). The mean operative time was 125 +/- 4.0 min in group A, and 150 +/- 4.0 min in group B (P = 0.00012). The recurrent laryngeal nerve was identified in all patients of group A, and in 96.8% of group B. The overall morbidity rate was 4.0% in group A and 25.5% in group B (P = 0.0038). This study indicates that a microsurgical approach with magnification is feasible, reduces surgical time, and improves the outcome in total thyroidectomy.

[Correlation between chronic obstructive bronchial disease and colonic anastomosis dehiscence in the elderly]. / Correlazioni tra broncopatia cronica ostruttiva e deiscenza dell'anastomosi colica in età geriatrica.

BACKGROUND: Anastomotic leakage remains a major complication after large bowel surgery. Chronic obstructive pulmonary disease is frequent disease in the elderly. AIMS: The authors want to analyze the correlation between systemic tissue hypoxia, resulting from chronic obstructive pulmonary disease and anastomotic leakage in large bowel surgery in a group of patients over 65 years. PATIENTS AND METHODS: In the period 1979-2001 at our surgical Department, 590 patients underwent colorectal surgery; 211 elderly patients (> 65 years) with large bowel anastomosis were selected. In 29/211 (13.7%) chronic obstructive pulmonary disease was diagnosed. The group of patients affected by chronic obstructive pulmonary disease was defined as group A; the other, as group B. The incidence of anastomotic leakage in patients with and without chronic obstructive pulmonary disease was evaluated. RESULTS: The overall incidence of anastomotic leakage was 5.6% (12/211); a difference in the incidence of anastomotic leakage was found in the group A vs. B: 7/29 (24.1 %) in the group A were affected by dehiscence vs. 5/182 (2.7%) of group B. This difference was statistically significant (p = 0.001). CONCLUSIONS: Chronic obstructive pulmonary disease can be a factor increasing the risk of anastomotic leakage. The elderly patient is often affected by chronic obstructive pulmonary disease and consequently show an higher risk of colonic anastomotic failure than younger patients.

[The role of palliation in peri-ampullar tumors in the elderly]. / Il ruolo della palliazione nei tumori periampollari in età geriatrica.

Authors wonder about the actual part of the palliative practices in periampullar cancers of the geriatric age, and the choice criteria of the different surgical options that are practicable. They reaffirm that the common radical operation is the pancreaticoduodenectomy, even if, as it is verifiable in the relevant literature and in our series of cases, it is practicable only a few times. The necessity of amending the toxic-septic condition of the neoplastic cholestasis, which certainly is more unfavourable during the geriatric age, gives to the palliative procedures a better role, because few patients could be treated with a curative intention. Authors report their experience and their results about the icterus regression, mortality, morbidity and the average survival rate. About the surgical palliative options of the bilio-digestive shunts, they give the same importance to the gallbladder jejunostomy and to the common bile duct jejunostomy, granting to the first their preference in the geriatric age for the simplest and rapid execution. They point out the necessity of the gastrojejunostomy in all the present or incipient jejuno's obstruction, because of the surgical action importance, and to avoid another operation. They give, even in the geriatric age, their preference to the surgical palliative treatments, proposing to reserve the endoscopic and radiologic practices to the patient undergoing an operation for the precarious general state, for the high operating risk and the modest residual life. In fact, the non surgical treatments are suitable to amend the neoplastic cholestasis, but they aren't equivalent to the surgical palliative, that is more effective for the greater survivals, a better life's quality, a smaller mortality and morbidity.

Hepatic intra-arterial chemotherapy using a percutaneous catheter in pretreated patients with metastatic colorectal carcinoma.

BACKGROUND: Hepatic intra-arterial chemotherapy (HIAC) leads to a higher response rate than systemic administration in untreated patients with liver metastases from colorectal cancer (CRC). The aim of this study was to evaluate the activity and safety of giving HIAC through a percutaneous catheter in pre-treated patients. PATIENTS AND METHODS: Forty-five CRC patients with liver-only or liver-dominant metastases, resistant or refractory to previous systemic therapy, were treated using a temporary trans-subclavian catheter. A 3-day chemotherapy regimen of daily 5-fluorouracil (5-FU) 1000 mg/m2/day + heparin 5000 IU/day given as a 24-hour continuous infusion, and twice daily bolus injections of cisplatin (CDDP) 10 mg/m2 and mitomycin C (MMC) 2 mg/m2, was administered every six weeks. RESULTS: One hundred and seventeen courses were administered to 45 patients (a median of three per patient: range 1-5). Of the 44 patients evaluable for response, 16 (35%) had a partial response, 15 (33%) stable disease and 12 (26%) progressive disease. Eleven of the 16 responding patients had been refractory to a previous 5-FU-based systemic therapy. The most relevant grade 3-4 toxicities included neutropenia (22%) and thrombocytopenia (15%). Gastro-duodenal ulcers occurred in nine patients. Catheter displacement was recorded during 22 out of 117 (18%) courses. CONCLUSION: HIAC with 5-FU, CDDP and MMC given through a temporary percutaneous catheter is safe and active in pretreated patients with metastatic CRC. Iatrogenic gastroduodenal ulcers are a serious but manageable complication.

[Urgent ulcerative colitis: our experience]. / Rettocolite ulcerosa in urgenza ed emergenza: nostra esperienza.

The authors refer their experience in Urgent Ulcerative Colitis. They define the various clinical maniferstations and then specify the necessary elements for a corrent nosological arrangement. About diagnosis, their confirm the inconvenience of clinical examination like as colonscopy or an opaque clysma, giving their choice to other parameters, like as clinical, hematic (PCR), microscopic and cultural of the faeces, radiological (direct abdomen radiography; abdomino-pelvic echography; abdomino-pelvic TC, better if spiral), endoscopic (rectoscopy with minimal insufflation). They explain their guideline about medical therapy, the strategy adopted in relation to its duration, the protocol of evaluation during the administration period and the predictive sighs of its possible failure. After having precised the surgical indications, they stop a little about the timing of a surgical interventation, underlining its primary importance. In the range of a surgical strategy. They give their choice to the total colectomy with associated ioleostomy for its less incidence of complications and mortality versus proctocolectomy, reserving this last one to that cases with irreprensible rectal hemorragy, with preservation of the anal canal for a possible delayed ileo-anal anastomosis. They also think, at last, that after an Urgent Total Colectomy, the immediate ileo-rectum anastomosis could have an high risk of dehiscence of the anastomosis itself and so it must be reserved only to that selected cases which offer local and general guarantees of solidity of the anastomosis and it must be preferably done joinly whit a loop ileostomy at the bottom of the anastomosis itself.