Cognitive deficits in familial Alzheimer's disease associated with M239V mutation of presenilin 2

The neuropsychological assessment of non-demented subjects with gene mutation of familial Alzheimer's disease (AD) provides a model for exploring the early cognitive features of the disease. We evaluated 1 patient and 6 non-demented subjects belonging to a family with AD with M239V mutation of the presenilin 2 gene, aiming to verify the contribution of specific cognitive patterns to the characterization of familial AD. One patient, 3 non-demented subjects with M239V mutation and 3 subjects without mutation from the same family underwent neuropsychological testing. The patient's cognitive profile was characterized by anosognosia, visuospatial agnosia, apraxia and fluent aphasia. Of the 3 non-demented subjects with mutation, 1 showed no deficits, another constructive apraxia and the third spatial perception and memory deficits. The 3 subjects without mutation showed normal abilities. The cognitive deficits of the non-demented subjects with mutations indicate focal dysfunction of the posterior cortical areas, resembling the more extended parieto-occipito-temporal dysfunction of the demented patient. Such grading of visuospatial, praxis, and language impairments highlights a distinctive pattern related to the M239V mutation of the presenilin 2 gene.     

Left ventricle unloading by percutaneous pigtail during extracorporeal membrane oxygenation

Arterial-venous extracorporeal membrane oxygenation (ECMO) is more and more used as first line mechanical support in acute cardiopulmonary failure. Important pitfall of this technique is the inappropriate unloading of left ventricle (LV) in case of myocardial insufficiency, leading to pulmonary stasis and inadequate myocardial recovery. We report our experience of left side unloading by a 7-F pigtail, introduced in the LV through the aortic valve, connected to the venous drainage. Echographic guidance is sufficient to pigtail positioning and follow-up monitoring avoiding catheterization laboratory transport. With this approach we were able to support three different patients, resolving LV distension and preventing lung congestion, without major complication.     

Impact of venous tumour thrombus consistency (solid vs friable) on cancer-specific survival in patients with renal cell carcinoma

Background

To our knowledge, the impact of venous tumour thrombus (VTT) consistency in patients affected by renal cell carcinoma (RCC) has never been addressed.

Objective

To analyse the effect of VTT consistency on cancer-specific survival (CSS).

Design, setting, and participants

We retrospectively analysed 174 consecutive patients with RCC and renal vein or inferior vena cava (IVC) VTT who underwent surgical treatment between 1989 and 2007 at our institute.

Intervention

All patients underwent radical nephrectomy and thrombectomy.

Measurements

Pathologic specimens were reviewed by a single uropathologist. In addition to traditional pathologic features, the morphologic aspect of the tumour thrombus was evaluated to distinguish solid from friable patterns. The prognostic role of thrombus consistency (solid vs friable) on CSS was assessed by means of Cox regression models.

Results and limitations

The VTT was solid in 107 patients (61.5%) and friable in 67 patients (38.5%). The presence of a friable VTT increased the risk of having synchronous nodal or distant metastases, higher tumour grade, higher pathologic stage, and simultaneous perinephric fat invasion (all p < 0.05). The median follow-up was 24 mo. The median CSS was 33 mo; the median CSS was 8 mo in patients with a friable VTT and 55 mo in patients with a solid VTT (p < 0.001). On multivariable analyses, the presence of a friable VTT was an independent predictor of CSS (p = 0.02). The power of our conclusion may be somewhat limited by the relatively small study population and the retrospective nature of the study.

Conclusions

In patients with RCC and VTT, the presence of a friable thrombus is an independent predictor of CSS. If our finding is confirmed by further studies, the consistency of the tumour thrombus should be introduced into routine pathologic reports to provide better patient risk stratification.     

Long-term experience with early single Mitomycin C instillations in patients with low-risk non-muscle-invasive bladder cancer: prospective, single-centre randomised trial

Purpose  

To study the benefits of a single, early, intravesical instillation of mitomycin C(MMC) after transurethral bladder resection (TURB) in patients with low-risk non-muscle-invasive bladder cancer (NMIBC).     

Pregnant woman presenting with a gross retroperitoneal mass: surgical treatment with caval replacement

A 40-year-old woman in the twenty-fifth week of pregnancy presented with a gross retroperitoneal mass. At the end of the pregnancy, the patient was submitted to surgery, and the gross infiltration of the inferior vena cava wall required the resection of the vena cava with its prosthetic substitution. The histopathological examination demonstrated the presence of a leiomyosarcoma of the inferior vena cava. An electronic video supplement showing the most important intraoperative passages is available online at doi:10.1016/j.eururo.2008.06.074.     

Effects of using the posterior or anterior approaches to the lumbar plexus on the minimum effective anesthetic concentration (MEAC) of mepivacaine required to block the femoral nerve: a prospective, randomized, up-and-down study

BACKGROUND AND OBJECTIVES: To evaluate if psoas compartment block requires a larger concentration of mepivacaine to block the femoral nerve than does an anterior 3-in-1 femoral nerve block. METHODS: Forty eight patients undergoing anterior cruciate ligament repair were randomly allocated to receive an anterior 3-in-1 femoral block (femoral group, n = 24) or a posterior psoas compartment block (psoas group, n = 24) with 30 mL of mepivacaine. The concentration of the injected solution was varied for consecutive patients using an up-and-down staircase method (initial concentration: 1%; up-and-down steps: 0.1%). RESULTS: The minimum effective anesthetic concentration of mepivacaine blocking the femoral nerve in 50% of cases (ED(50)) was 1.06% +/- 0.31% (95% confidence interval [CI], 0.45%-1.68%) in the femoral group and 1.03% +/- 0.21% (95% CI, 0.6%-1.45%) in the psoas group (P = .83). The lateral femoral cutaneous and obturator nerves were blocked in 4 (16%) and 5 (20%) femoral group patients as compared with 20 (83%) and 19 (80%) psoas group patients (P = .005 and P = .0005, respectively). Intraoperative analgesic supplementation was required by 15 (60%) and 5 (20%) patients in the femoral and psoas groups, respectively (P = .01). CONCLUSIONS: Using a posterior psoas compartment approach to the lumbar plexus does not increase the minimum effective anesthetic concentration of mepivacaine required to block the femoral nerve as compared with the anterior 3-in-1 approach, and provides better quality of intraoperative anesthesia due to the more reliable block of the lateral femoral cutaneous and obturator nerves.     

Value of 18-Fluorodeoxyglucose Positron Emission Tomography in the Management of Patients With Cystic Tumors of the Pancreas

OBJECTIVE: To assess the reliability of 18-fluorodeoxyglucose positron emission tomography (18-FDG PET) in distinguishing benign from malignant cystic lesions of the pancreas. SUMMARY BACKGROUND DATA: The preoperative differential diagnosis of cystic lesions of the pancreas remains difficult: the most important point is to identify malignant or premalignant cysts that require resection. 18-FDG PET is a new imaging procedure based on the increased glucose metabolism by tumor cells and has been proposed for the diagnosis and staging of pancreatic cancer. METHODS: During a 4-year period, 56 patients with a suspected cystic tumor of the pancreas underwent 18-FDG PET in addition to computed tomography scanning, serum CA 19-9 assay, and in some instances magnetic resonance imaging or endoscopic retrograde cholangiopancreatography. The 18-FDG PET was analyzed visually and semiquantitatively using the standard uptake value. The accuracy of 18-FDG PET and computed tomography was determined for preoperative diagnosis of a malignant cyst. RESULTS: Seventeen patients had malignant tumors. Sixteen patients (94%) showed 18-FDG uptake with a standard uptake value of 2.6 to 12.0. Twelve patients (70%) were correctly identified as having malignancy by computed tomography, CA 19-9 assay, or both. Thirty-nine patients had benign tumors: only one mucinous cystadenoma showed increased 18-FDG uptake (standard uptake value 2.6). Five patients with benign cysts showed computed tomography findings of malignancy. Sensitivity, specificity, and positive and negative predictive values for 18-FDG PET and computed tomography scanning in detecting malignant tumors were 94%, 97%, 94%, and 97% and 65%, 87%, 69%, and 85%, respectively. CONCLUSIONS: 18-FDG PET is more accurate than computed tomography in identifying malignant pancreatic cystic lesions and should be used, in combination with computed tomography and tumor markers assay, in the preoperative evaluation of patients with pancreatic cystic lesions. A positive result on 18-FDG PET strongly suggests malignancy and, therefore, a need for resection; a negative result shows a benign tumor that may be treated with limited resection or, in selected high-risk patients, with biopsy, follow-up, or both.     

Activation of Coagulation and Fibrinolysis during Coronary Surgery: On-pump versus Off-pump Techniques

Background : The authors studied the changes in selected hemostatic variables in patients undergoing coronary surgery with on-pump coronary artery bypass grafting (CABG) or off-pump coronary artery bypass surgery (OPCAB) techniques.

Methods : Platelet counts and plasma concentrations of antithrombin, fibrinogen, D dimer, [alpha]2 antiplasmin, and plasminogen were measured preoperatively, 5 min after administration of heparin, 10 min after arrival in the intensive care unit, and 24 h after surgery in patients scheduled to undergo OPCAB (n = 15) or CABG (n = 15). To correct for dilution, hemostatic variables and platelet counts were adjusted for the changes in immunoglobulin G plasma concentrations and hematocrit, respectively.

Results : Adjusting for dilution, antithrombin and fibrinogen concentrations decreased to a similar extent in patients undergoing OPCAB or CABG (pooled means and 95% confidence limits of the mean: 95.5% of baseline, 93-98%, P = 0.002, and 91.7% of baseline, 88-95%, P = 0.0001), respectively, whereas [alpha]2-antiplasmin concentrations were unchanged. Only CABG was associated with a reduction in platelet counts (76% of baseline, 66-85%, P = 0.0001), plasminogen concentrations (96% of baseline, 91-99%, P = 0.011), and increased D-dimer formation (476%, 309-741%, P = 0.004). Twenty-four hours after surgery, platelet counts were still lower in patients undergoing CABG (P = 0.049), but all the investigated variables adjusted for dilution were similar in the two groups.     

Longitudinal Evaluation of Vitamin D Status in Healthy Subjects from Southern Italy: Seasonal and Gender Differences

Vitamin D status is currently considered among the relevant determinants of skeletal integrity. Since vitamin D levels present seasonal variations, we longitudinally studied young healthy men and women in order to investigate the related physiologic modifications of both calcium homeostasis and bone remodeling. Thirty-two men (mean age 39.4 ± 7.8 years) and 58 premenopausal women (aged 36.9 ± 6.4 years) from southern Italy were studied. In all subjects the following parameters were measured both in winter and in summer: serum calcium, phosphorus, creatinine, total alkaline phosphatase activity, 25-hydroxyvitamin D (25OHD), parathyroid hormone (PTH), osteocalcin (BGP), together with urinary calcium (Ca/Cr), total pyridinoline (Pyr/Cr) and deoxypyridinoline (d-Pyr/Cr), corrected for creatinine excretion. In both sexes 25OHD levels were significantly higher in summer, while PTH values were lower, than in winter. The prevalence of hypovitaminosis D, defined by concentrations of 25OHD lower than 30 nmol/l, was 17.8% in winter and 2.2% in summer in the whole sample, while it was 27.8% and 3.4%, respectively, among female subjects. Indeed male subjects did not display hypovitaminosis D, having throughout the year significantly higher calcium and 25OHD levels together with lower PTH values, than the women. Moreover, alkaline phosphatase total activity was more elevated in men both in winter and in summer. In women, during winter, bone remodeling markers levels were higher while urinary calcium levels were lower than in summer. In the whole sample serum 25OHD correlated positively with serum calcium and inversely with PTH. The seasonal percentage variations in PTH were inversely correlated with those of Ca/Cr. Our results show a relatively high prevalence of subclinical vitamin D deficiency among young healthy women from southern Italy. Significant gender-specific differences have been demonstrated in both calcium homeostasis and skeletal remodeling indexes; the seasonal fluctuations in the vitamin D–PTH axis are accompanied by cyclical variations of bone turnover rate, which were more pronounced in women. Received: 11 January 2001 / Accepted: 6 July 2001     

Combined heart and liver transplantation for familial amyloidotic neuropathy.

Familial amyloidotic polyneuropathy (FAP) is an inherited disease characterized by an abnormal systemic deposition of a mutant protein called transthyretin (TTR) with elective involvement of the peripheral nervous system, but often determining cardiac, gastrointestinal, and urinary tract dysfunction. FAP commonly affects the liver and the heart until end-organs failure. Transthyretin amyloidosis is today an accepted indication for orthotopic liver transplantation (OLT). Combined heart and liver transplantation (CHLT) may be an attractive and rational treatment option when both organs are contemporary involved by this type of amyloidotic disease. Nowadays, surgical indications and techniques are far from being consolidated because only few cases of CHLT have been previously reported in literature. From November 1999 to May 2006, we performed five orthotopic combined heart and liver transplantations for FAP at our institution. Our surgical experience and clinical outcomes are herein reported.