Hypertrichosis in Becker's nevus: effective low-fluence laser hair removal.

Becker's nevus is cosmetically bothersome both due to the hyperpigmentation and due to the hypertrichosis which can accompany it, particularly in males. Laser hair removal can be considered, but the pigmented background of the Becker's nevus makes the treatment more challenging. Fifteen patients with Becker's nevus underwent eight sessions of hair removal with low-fluence high-repetition-rate diode lasers (808-810 nm). All participants experienced significant hair reduction at 6 and 12 months. No adverse events were reported. The study supports the use of low fluence with high-repetition-rate diode laser hair removal as a safe and effective method for the management of hypertrichosis in Becker's nevus.

Treatment of verrucous epidermal nevus: experience with 71 cases.

OBJECTIVE: The aim of this study was to evaluate the clinical results of 71 cases with verrucous epidermal nevus (VEN) treated by cryotherapy or CO2 laser. METHODS: The files and photographs of patients with VEN who were treated in the laser unit of a tertiary hospital between January 2005 and December 2011 were evaluated. Pretreatment and 12-month follow-up photographs were evaluated using a 5-point scale: 'excellent' (75-100% clearance), 'good' (50-75% clearance), 'fair' (25-50% clearance), 'poor' (<25% clearance) or 'worse'. RESULTS: Of 71 patients, 62 responded well to cryotherapy alone, and 9 facial VEN required CO2 laser treatment. Small VEN required relatively few treatments (mean 3.4) with 90% scoring 'excellent' and 10% scoring 'good'. Larger VEN required more treatments (mean 7.4) and did not respond as well, with 71% scoring 'excellent', 14% scoring 'good' and 14% scoring 'fair'. CONCLUSION: Our experience suggests that cryotherapy is the ideal treatment for small facial VEN, while ablation by CO2 laser should be considered an option for resistant facial lesions.

DNA methylation profiles delineate epigenetic heterogeneity in seminoma and non-seminoma.

BACKGROUND: It remains important to understand the biology and identify biomarkers for less studied cancers like testicular cancer. The purpose of this study was to determine the methylation frequency of several cancer-related genes in different histological types of testicular cancer and normal testis tissues (NT). METHODS: DNA was isolated from 43 seminomas (SEs), 14 non-SEs (NSEs) and 23 NT, and was assayed for promoter methylation status of 15 genes by quantitative methylation-specific PCR. The methylation status was evaluated for an association with cancer, and between SEs and NSEs. RESULTS: We found differential methylation pattern in SEs and NSEs. MGMT, VGF, ER-ß and FKBP4 were predominately methylated in NSEs compared with SEs. APC and hMLH1 are shown to be significantly more methylated in both subtypes in comparison with NT. When combining APC, hMLH1, ER-ß and FKBP4, it is possible to identify 86% of the NSEs, whereas only 7% of the SEs. CONCLUSIONS: Our results indicate that the methylation profile of cancer-associated genes in testicular cancer correlates with histological types and show cancer-specific pattern for certain genes. Further methylation analysis, in a larger cohort is needed to elucidate their role in testicular cancer development and potential for therapy, early detection and disease monitoring.

Are port wines stains a feature of tuberous sclerosis?

BACKGROUND: Tuberous sclerosis complex is a multisystem inherited disorder characterized by the development of tumour-like growths in brain, skin and other organs. Although cutaneous vascular anomalies are not considered a common manifestation, we have encountered co-occurrence of port wine stains and tuberous sclerosis. OBJECTIVE: To assess the prevalence of port wine stain in patients with previously diagnosed tuberous sclerosis. METHODS: All cases diagnosed with tuberous sclerosis at two tertiary care centres from 2000 to 2009 were reviewed. Cases with clinically documented port wine stains were included for evaluation. RESULTS: Of 24 patients diagnosed with tuberous sclerosis, three (12.5%) had clinically evident port wine stains. The prevalence of port wine stains in this series of tuberous sclerosis patients was significantly higher than the 0.3% prevalence of port wine stain in the general population. CONCLUSION: Port wine stain rate in this population was significantly greater than the expected rate. Further studies are needed to assess the frequency of port wine stains in tuberous sclerosis and to clarify whether the finding should be added to the list of cutaneous features of tuberous sclerosis.

ETView tracheoscopic ventilation tube for surveillance after tube position in patients undergoing percutaneous nephrolithotomy.

BACKGROUND: Tracheal tube (TT) displacement during general anaesthesia may result in life-threatening complications and continuous direct vision of the position of the tube may enable safer management. The ETView tracheoscopic ventilation tube (TVT) is a single-use TT incorporating a video camera and a light source in its tip. The view from the tip appears continuously on a portable monitor in the anaesthetist's vicinity. This study was designed to test the ETView TVT in monitoring the TT position during general anaesthesia. METHODS: In this prospective study, the ETView TVT was used to ventilate the lungs of 30 adult patients undergoing percutaneous nephrolithotomy (PCNL), which required changing patient position three times. During surgery, the anaesthetist followed the carinal view on the ETView TVT portable monitor. Tube movement within 1 cm was recorded, as was the need for repositioning of the tube when the carina was not seen on the camera monitor. RESULTS: During anaesthesia, tiny movements synchronous with heart beats and lung ventilation were observed. Tube movement of 1 cm was detected in eight (26%) patients. In two (7%) patients, the carina was no longer viewed after moving to the lithotomy position and the tube was repositioned. None of the events was associated with changes in oxygen saturation, end-tidal CO(2), or airway pressure. CONCLUSIONS: We found that the ETView TVT facilitated surveillance of tube position by providing a clear high-quality view of the carina, throughout PCNL with several changes of patient position.

Estrogen receptor-associated proteins: possible mediators of hormone-induced transcription.

The estrogen receptor is a transcription factor which, when bound to estradiol, binds DNA and regulates expression of estrogen-responsive genes. A 160-kilodalton estrogen receptor-associated protein, ERAP160, was identified that exhibits estradiol-dependent binding to the receptor. Mutational analysis of the receptor shows that its ability to activate transcription parallels its ability to bind ERAP160. Antiestrogens are unable to promote ERAP160 binding and can block the estrogen-dependent interaction of the receptor and ERAP160 in a dose-dependent manner. This evidence suggests that ERAP160 may mediate estradiol-dependent transcriptional activation by the estrogen receptor. Furthermore, the ability of antiestrogens to block estrogen receptor-ERAP160 complex formation could account for their therapeutic effects in breast cancer.

Tumor spectrum analysis in p53-mutant mice.

BACKGROUND: The p53 tumor suppressor gene is mutated in a large percentage of human malignancies, including tumors of the colon, breast, lung and brain. Individuals who inherit one mutant allele of p53 are susceptible to a wide range of tumor types. The gene encodes a transcriptional regulator that may function in the cellular response to DNA damage. The construction of mouse strains carrying germline mutations of p53 facilitates analysis of the function of p53 in normal cells and tumorigenesis. RESULTS: In order to study the effects of p53 mutation in vivo, we have constructed a mouse strain carrying a germline disruption of the gene. This mutation removes approximately 40% of the coding capacity of p53 and completely eliminates synthesis of p53 protein. As observed previously for a different germline mutation of p53, animals homozygous for this p53 deletion mutation are viable but highly predisposed to malignancy. Heterozygous animals also have an increased cancer risk, although the distribution of tumor types in these animals differs from that in homozygous mutants. In most cases, tumorigenesis in heterozygous animals is accompanied by loss of the wild-type p53 allele. CONCLUSION: We reaffirm that p53 function is not required for normal mouse development and conclude that p53 status can strongly influence tumor latency and tissue distribution.

The use of bovine serum albumin-glutaraldehyde tissue adhesive (BioGlue®) for tumor bed closure following open partial nephrectomy. / El uso de adhesivo tisular de albúmina-glutaraldehído sérico bovino (BioGlue®) para el cierre del lecho tumoral después de una nefrectomía parcial abierta.

OBJECTIVES: To report the results of the use of Bovine Serum Albumin-Glutaraldehyde tissue adhesive (BioGlue®) for tumor bed closure in open nephron-sparing surgery (NSS). MATERIALS AND METHODS: The cohort included 255 patients with enhancing renal mass who underwent open NSS. We used open flank approach, with in-situ hypothermia and enucleation of the tumor. For tumor bed closure, we used the BioGlue® sealant for tumor bed filling, without suturing the edges. RESULTS: Mean patients' age was 65.4 years. 5.1% of patients had pre-operative chronic renal failure. Mean renal mass diameter was 4.2±1.6cm and mean R.E.N.A.L nephrometry score was 8.0±1.6. Mean ischemia time was 21.8±7.6. Mean estimated blood loss was 42±82ml and only two patients required blood transfusion. Urine leak and pseudo-aneurysm were recorded in two and one patient, respectively. None of the operations were converted to radical nephrectomy. The average change between post-operative and pre-operative eGFR (Δ=-1.7ml/min) was insignificant in a mean follow-up of 30.1±29.6 months. The 10-year recurrence-free survival rate was 99% and the 10-year overall survival rate was 85%. CONCLUSIONS: The use of BioGlue® alone for hemostasis after NSS is a feasible and safe alternative to classical suturing. Its use enables satisfactory functional outcome and could potentially reduce ischemia time.

Effect of percutaneous nephrolithotripsy on renal function: assessment with quantitative SPECT of (99m)Tc-DMSA renal scintigraphy.

PURPOSE: To measure the effect of PCNL on global and regional renal function using quantitative single-photon emission CT (SPECT) measurement of Tc-dimercaptosuccinic acid (DMSA) uptake by the kidneys (QDMSA). PATIENTS AND METHODS: A series of 47 male and 41 female patients with a mean age of 47 +/- 16 years were studied by sequential QDMSA examinations before and 1.5 to 24 months after PCNL. Among the 67 patients (76%) in whom PCNL was performed using upper- or lower-pole access, the function of the affected and nonaffected poles of the treated kidney was calculated separately. RESULTS: There was no statistically significant difference in the uptake by the treated kidneys before versus after PCNL (11.9% +/- 5% v 11.6% +/- 5%; t = 0.9; P = 0.368). The total functional volume of the treated kidney was slightly decreased, from 235 cc +/- 62 cc to 224 cc +/- 59 cc (t = 2.7; P = 0.011). The percent of the injected isotope dose per cubic centimeter of tissue of the treated kidney was not affected (0.051 +/- 0.02 v 0.053 +/- 0.02; t = 0.86; P = 0.296). Regional assessment revealed a statistically significant decrease in the functional volume at the PCNL port of entry (91 cc +/- 30 cc v 82 cc +/- 27 cc; t = 2.64; P = 0.013). Regarding the percent of the injected dose per cubic centimeter of renal tissue, no statistically significant difference was found between the area of the kidney that underwent PCNL and the untreated area of the same kidney (0.049 +/- 0.02 v 0.05 +/- 0.02; t = 0.693; P = 0.494). The function of the contralateral kidneys remained unchanged (13.4% +/- 5.2% v 13.6% +/- 4.8%; t = 0.68; P = 0.5). CONCLUSIONS: Despite the statistically significant decrease in the functional volume of the surgically treated region, neither total percent uptake nor percent of injected dose were reduced significantly. Further studies with long-term follow-up of treated kidneys are required.

Frequent inactivation of PTEN/MMAC1 in primary prostate cancer.

Sporadic prostate carcinoma is the most common male cancer in the Western world, yet many of the major genetic events involved in the progression of this often fatal cancer remain to be elucidated. Numerous cytogenetic and allelotype studies have reported frequent loss of heterozygosity on chromosomal arm 10q in sporadic prostate cancer. Deletion mapping studies have unambiguously identified a region of chromosome 10q23 to be the minimal area of loss. A new tumor suppressor gene, PTEN/MMAC1, was isolated recently at this region of chromosome 10q23 and found to be inactivated by mutation in three prostate cancer cell lines. We screened 80 prostate tumors by microsatellite analysis and found chromosome 10q23 to be deleted in 23 cases. We then proceeded with sequence analysis of the entire PTEN/MMAC1 coding region and tested for homozygous deletion with new intragenic markers in these 23 cases with 10q23 loss of heterozygosity. The identification of the second mutational event in 10 (43%) tumors establishes PTEN/MMAC1 as a main inactivation target of 10q loss in sporadic prostate cancer.

The use of an ultrasonic assisted lipectomy device for the treatment of obstructive pelvic lipomatosis.

Pelvic lipomatosis is a rare disease of unknown etiology characterized by overgrowth of pelvic fat. We describe a 60-year-old man with pelvic and retroperitoneal lipomatosis causing severe urinary obstruction with massive hydroureteronephrosis. The diagnostic procedure and the management of the patient is described, emphasizing the value of the Ultrasonic Assisted Lipectomy device in performing ureterolysis.

Premature ovarian failure--the prognostic application of autoimmunity on conception after ovulation induction.

OBJECTIVE: To assess whether the presence of autoimmune activity in patients with premature ovarian failure (POF) can predict the response to ovulation induction and conception. DESIGN: Assessment of autoimmune activity in patients with POF, correlating the response to ovulation induction with this autoreactivity. SETTING: Tertiary care academic center. PATIENTS: Forty women with POF, 15 of them treated by ovulation induction because of infertility. INTERVENTIONS: All patients were tested for the presence of autoimmune activity, antibodies against various tissues, and 15 of them were treated with combinations of hMG/hCG, glucocorticosteroids as immunosuppressant, and some of them also with a long-acting GnRH agonist. Those patients not interested in infertility were put on hormone replacement therapy (HRT). MAIN OUTCOME MEASURES: Serum E2 and P were measured during ovulation induction as well as follicular diameter monitoring by transvaginal sonography. Achievement of gestations and their outcome were monitored in the group in which ovulation induction was accomplished. RESULTS: Antibodies against thyroglobulin, nuclear antigens, heart, tissue gluten, or increased levels of immunoglobulin (Ig)M, or decreased levels of complement C3 and C4 were significantly different in the patients with POF than in the control population. Autoreactivity of at least one class of the tested antibodies was found in 31 of 40 patients (77%). In 15 patients with autoimmune activity who have undergone ovulation induction using hMG/hCG, 14 pregnancies were achieved in 8 patients. Two of the pregnancies were spontaneous, and 12 were generated by hMG/hCG and fluocortolone, with or without pretreatment with GnRH-a. Twelve healthy babies were generated by 10 gestations, 3 ended in spontaneous abortions (23%), and 1 is ongoing. All the nonspontaneous pregnancies were achieved in the first three cycles of ovulation induction. CONCLUSIONS: Patients with POF and autoimmune activity, suggesting an autoimmune etiology to the ovarian failure, may respond to ovulation induction and have a conception rate of approximately 40% in three cycles. Those who do not conceive in three treatment cycles have a very low probability to conceive; therefore, further attempts of ovulation induction should be discouraged. However, some patients may spontaneously conceive in association with HRT.

Bladder neck suspension using bone anchors for the treatment of female stress incontinence.

A new technique and related devices for the treatment of urinary incontinence in women was developed and tested. The technique involves soft tissue to bone fixation by means of miniature bone anchors and a bone anchor inserter. The novel bone anchors are made of a shape-memory nickel titanium alloy (Nitinol) attached to Polypropylene or Gortex suture. A spring-loaded bone anchor inserter drives the anchors through the vaginal wall to a predetermined depth into the pubic bone medulla regardless of the bone's hardness, with no incision or drilling required. The device allows for the performance of a minimally invasive transvaginal bladder neck suspension. The procedure has minimal morbidity and a short learning curve. This technique was evaluated clinically in 15 women with incontinence, with a mean follow-up of 6 months. Good urinary continence was achieved in all patients, with no mechanical failures.

A new intraurethral sphincter prosthesis with a self contained urinary pump.

An intraurethral sphincter prosthesis with a self contained urinary pump for the management of atonic bladder in women was developed and tested. The prosthesis is comprised of a short, self retaining silicone catheter in which there is a valve and pump. Available in a range of lengths and diameters according to urethral size, its insertion is similar to that of a urethral catheter. The prosthesis is secured by a novel fixation method that has soft expandable silicone fins at the bladder neck and a flexible flange at the external meatus. It is activated by a small hand-held control device. To urinate, the activator is placed on the lower abdomen area and the "on" button is pressed, providing energy to the pump by a magnetic coupling method. Once activated, the valve opens and the pump rotates at a high speed, drawing urine from the bladder and pushing it forward, allowing the patient to "void" with a urine flow of 10 to 12 cc/sec. When the bladder is completely evacuated, the pumping ceases and the valve closes, restoring continence. The device was evaluated clinically in 17 women. Fifteen of the patients had a range of use of 2 weeks to 16 months during which they were dry and had complete bladder emptying. Two patients did not tolerate the device because of uninhibited detrusor contractions and, in both cases, it was removed without complication after 5 days.

Relationship between prostate size and percent free prostate-specific antigen in patients with operable prostate cancer.

BACKGROUND: The free-to-total prostate-specific antigen ratio is the best marker for optimizing prostate cancer detection. The main problem with studies of percent free PSA is the variability of reported cutoff values. OBJECTIVES: To evaluate the influence of prostate size on the ratio of free to total PSA. METHODS: The study group included 58 patients (mean age 66.4 years) with clinically localized prostate cancer treated surgically at our institution. Total PSA and free PSA levels were measured by a solid phase enzyme immunoassay test (Hoffman-La Roche, Basel, Switzerland). The percent free PSA was compared with prostate size as determined from the surgical specimen. RESULTS: A direct relation was noted between prostate size and the percent free PSA value (r = 0.49, P = 0.0001). Mean percentage free PSA was 9% +/- 0.004 in men with normal-sized gland while in men with large prostate (> 60 g) the average percent free PSA was 15.9 +/- 0.09 (P = 0.001). CONCLUSIONS: In patients with prostate cancer the percent free PSA level is influenced by the gland size. The larger the prostate the higher the proportion of the free PSA. Such information may have influence on the recommendation for prostate biopsy in screening programs for early detection of prostate cancer.

Prognostic score for patients with localized renal cell carcinoma treated by nephrectomy.

OBJECTIVE: To evaluate the feasibility of using combined clinical and histomorphometric features to construct a prognostic score for the individual patient with localized renal cell carcinoma. PATIENTS AND METHODS: We studied 39 patients with pT1 and pT2 RCC who underwent radical nephrectomy between 1974 and 1983. Univariate and multivariate analyses were used to determine the association between various prognostic features and patient survival. RESULTS: The most important and independent predictors of survival were tumor angiogenesis (P = 0.009), nuclear DNA ploidy (P = 0.0071), mean nuclear area (P = 0.013), and mean elongation factor (P = 0.0346). Combination of these variables enabled prediction of outcome for the individual patient at a sensitivity and specificity of 78% and 89%, respectively. CONCLUSION: Our results indicate that no single parameter can accurately predict the outcome for patients with localized RCC. Combination of neovascularity, DNA content and morphometric shape descriptors enabled a more precise stratification of the patients into different risk categories.

[Nephron-sparing surgery--initial experience with 50 patients].

During recent years the use of the new imaging techniques, ultrasonography and computerized tomography, has increased. The accessibility to these methods has changed the pattern of detection of renal lesions. Over 90% of renal masses are now discovered incidentally, while investigating nonurological symptoms. Therefore, most lesions are discovered in their early stages. The gold-standard procedure for removing renal masses is radical nephrectomy, which ensures complete removal of an organ-confined lesion, but involves loss of functional tissue. This might be critical in patients with a single kidney, or reduced nephron function. There are several diseases characterized by multiple renal lesions, such as Von Hippel-Lindau and tuberous sclerosis in which radical treatment may lead to chronic dialysis in young patients. Nephron-sparing surgery was developed in order to preserve as much functional tissue as possible while removing safely any suspicious renal lesion. This new technique, not involving radical surgery, should be evaluated in cases of renal tumors for its ability to achieve the same cancer cures rates. We present our experience with our first 50 patients who underwent nephron-sparing surgery for removal of renal lesions.

[Transurethral microwave thermotherapy for benign prostatic hypertrophy in patients with high risk for surgery].

The effectiveness of transurethral microwave thermotherapy (TUMT) for benign prostatic hypertrophy in poor surgical risk patients (ASA class IV) with indwelling catheters, was assessed. All had had an indwelling catheter for 1-12 months. Removal of the catheter was possible in 14 out of the 24 (58.3%). Urinary peak flow rates were 12.2 +/- 3.5 ml/sec at 3 months of follow-up and post-voiding residual urine volumes of less than 50 ml were recorded in 13 catheter-free patients. Our data suggest that TUMT is an effective procedure for management of high risk patients with indwelling catheters in whom surgery or anesthesia are contraindicated.

[Transthoracic approach for removing adrenal masses].

Early results with the transthoracic approach for removing adrenal tumors were evaluated. Between May 1994 and December 1995, 8 women and 5 men (aged 18-74) with adrenal masses underwent transthoracic adrenalectomy. All were excised successfully with short operation times (mean: 86 min), minimal blood loss (151 ml), limited use of parenteral analgesics (1.3 days), early ambulation (1.7 days post operation) and a short period of parenteral nutrition (1.7 days), resulting in reduced hospital stay (mean 6.7 days). With the transthoracic approach procedures are quick and safe even for large, malignant, and hormone-producing tumors. Recovery is easy with brief hospitalization. It provides excellent exposure of the adrenals, enables good control of bleeding vessels and is therefore our preferred method for removing adrenal masses.