The clinical phenotype of Sanfilippo Syndrome is caused by one of four enzyme deficiencies that are associated with a defect in mucopolysaccharide metabolism. The four subtypes (A, B, C, and D) are each caused by an enzyme deficiency involved in the degradation of heparan sulfate. We have developed a highly efficient synthesis of the substrates and internal standards required for the enzymatic assay of each of the four enzymes. The synthesis of the substrates involves chemical modification of a common intermediate. The substrates and internal standards allow the measurement of the enzymes relevant to heparan N-sulfatase (type A); N-acetyl-α-glucosaminidase (type B); acetyl-CoA:α-glucosamide N-acetyltransferase (type C); N-acetylglucosamine 6-sulfatase (type D). The internal standards are similar to the substrates and allow for the accurate quantitation of the enzyme assays using tandem mass spectrometry. The synthetic substrates incorporate a coumarin moiety and can also be used in fluorometric enzyme assays. We confirm that all four substrates can detect the appropriate Sanfilippo syndrome in fibroblast lysates, and the measured enzyme activities are distinctly lower by a factor of 10 when compared to fibroblast lysates from unaffected persons.

Study Type – Prognosis (case series) Level of Evidence 4 What's known on the subject? and What does the study add? Little is known about the prognostic impact of body mass index (BMI) and obesity on patients with locally advanced kidney cancer. Previous studies suggest that clinical/pathological stage, the proximal extent of the tumour thrombus, direct vascular wall invasion, and preoperative performance status may all constitute important prognostic factors within this patient population. The present study shows that a patient's metastatic status, higher level of tumour thrombus, and lower BMI all constitute adverse predictors of overall survival in patients who have RCC with inferior vena cava tumour thrombus. OBJECTIVE To determine which clinical variables, including body mass index (BMI), predict overall survival (OS) after nephrectomy with inferior vena cava (IVC) thrombectomy for renal cell carcinoma (RCC) with tumour thrombus. PATIENTS AND METHODS After institutional review board approval, a retrospective analysis of all patients (N= 100) undergoing nephrectomy and IVC thrombectomy for RCC from 1989 to 2010 were reviewed. One patient was excluded owing to missing clinical information leaving 99 patients in the study cohort. Patients were placed into one of two subgroups, based on their preoperative BMI (BMI ≤30 kg/m2 or BMI >30 kg/m2). Complications, blood loss, level of tumour thrombus, side of tumour and follow‐up data were tabulated. RESULTS Fifty‐six patients had a BMI ≤30 kg/m2 and 43 patients had a BMI >30 kg/m2. Intraoperative complications occurred in 14% of those with BMI >30 kg/m2 and 5.4% of those with a BMI ≤30 kg/m2 (P= 0.171). On multivariate analysis, a higher thrombus level (III/IV vs I/II) and the presence of metastatic disease at time of diagnosis was associated with a worse OS (P= 0.041 and P < 0.001, respectively). The subgroup with a higher preoperative BMI had a significantly better OS (hazard ratio 0.42; 95% confidence interval 0.22–0.80, P= 0.009). Similarly, our Kaplan–Meier survival analysis showed an improved OS in the patient cohort with a BMI >30 kg/m2 (P= 0.016). CONCLUSION Important predictors of outcome in patients undergoing nephrectomy with IVC thrombectomy for RCC with tumour thrombus include preoperative BMI, level of IVC tumour thrombus, and metastatic status at time of surgery.

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_______________________________________________________________________________________The ventral phalloplasty (VP) has been well described in modern day penile prosthesis surgery. The main objectives of this maneuver are to increase perceived length and patient satisfaction and to counteract the natural 1-2 cm average loss in length when performing implantation of an inflatable penile prosthesis. Similarly, this video represents a new adaptation for partial penectomy patients. One can only hope that the addition of the VP for partial penectomy patients with good erectile function will increase their quality of life. The patient in this video is a 56-year-old male who presented with a 4.0x3.5x1.0 cm, pathologic stage T2 squamous cell carcinoma of the glans penis. After partial penectomy with VP and inguinal lymph node dissection, pathological specimen revealed negative margins, 3/5 right superficial nodes and 1/5 left superficial nodes positive for malignancy. The patient has been recommended post-operative systemic chemotherapy (with external beam radiotherapy) based on the multiple node positivity and presence of extranodal extension. The patient's pre-operative penile length was 9.5 cm, and after partial penectomy with VP, penile length is 7 cm. ARTICLE INfO

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