Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

New techniques for laser prostatectomy: an update

Traditionally, the gold standard for treatment of BPH has been the electrocautery-based TransUrethral Resection of the Prostate (TURP). However, the number of laser techniques being performed is rapidly increasing. Potential advantages of laser therapy over traditional TURP include decreased morbidity and shorter hospital stay. There are several techniques for laser prostatectomy that continue to evolve. The main competing techniques are currently the Holmium Laser Enucleation of the Prostate (HoLEP) and the 80W 532nm laser prostatectomy. The HoLEP, using the Holmium:YAG laser, has been shown to have clinical results similar to TURP and is suitable for patients on anticoagulation as well as those with large prostates. Disadvantages of this technique are the high learning curve and requirement of a morcellator. When used to treat BPH, studies have demonstrated that, like the HoLEP, the 80W KTP laser is safe and effective in patients with large prostates and in those taking oral anticoagulation. Several studies have compared these two techniques to TURP. Frequently reported advantages of the HoLEP over the 80W laser prostatectomy are the availability after the procedure of a pathology specimen and ability to remove a higher percentage of prostate tissue during resection. However, the transurethral laser enucleation of the prostate addresses these concerns and has shown to have durable outcomes at 2-year follow-up. Two new laser systems and techniques, the thulium laser and the 980nm laser, have emerged recently. However, clinical data from these procedures are in their infancy and large long-term studies are required

Evidence of the efficacy and safety of the thulium laser in the treatment of men with benign prostatic obstruction

In 2005, the high power thulium laser was introduced for the surgical treatment of benign prostatic obstruction. It has several properties that confer theoretical advantages over other lasers used for the same indication, such as technical versatility and a relatively small zone of thermal damage. Studies using the 70–150 W thulium laser systems demonstrate good efficacy of these procedures with low morbidity and few complications even in higher risk patients. Different techniques have been employed to treat the prostate with this technology, including enucleation, vapoenucleation, vaporization and resection. Comparative studies have been published comparing thulium laser prostatectomy to monopolar transurethral resection of prostate (TURP), bipolar TURP and holmium laser enucleation of prostate (HoLEP). In this review we discuss the current literature on the safety and efficacy of various thulium techniques for the treatment of benign prostatic hyperplasia and examine comparative studies

Xanthogranulomatous cystitis associated with inflammatory bowel disease

Xanthogranulomatous inflammation is a benign condition characterized by the presence of multinucleated giant cells, chronic inflammatory cells and lipid-laden macrophages, known as xanthoma cells. Only 22 cases of xanthogranulomatous cystitis (XGC) have been reported in the Japanese and English literature. In this report, we describe the twenty-third case of XGC and the third case associated with inflammatory bowel disease (IBD). A 50-year-old woman with quiescent Crohn’s disease was incidentally found to have a bladder mass on ultrasound. The lesion was resected through a transurethral approach. Pathology demonstrated XGC. At 3 months post-resection, there was no evidence of recurrence adjacent to the previous resection scar

Assessing variability of the 24-hour pad weight test in men with post-prostatectomy incontinence

ABSTRACT Purpose: Decision-making regarding surgery for post-prostatectomy incontinence (PPI) is challenging. The 24-hour pad weight test is commonly used to objectively quantify PPI. However, pad weight may vary based upon activity level. We aimed to quantify variability in pad weights based upon patient-reported activity. Materials and Methods: 25 patients who underwent radical prostatectomy were prospectively enrolled. All patients demonstrated clinical stress urinary incontinence without clinical urgency urinary incontinence. On three consecutive alternating days, patients submitted 24-hour pad weights along with a short survey documenting activity level and number of pads used. Results: Pad weights collected across the three days were well correlated to the individual (ICC 0.85 (95% CI 0.74–0.93), p<0.001). The mean difference between the minimum pad weight leakage and maximum leakage per patient was 133.4g (95% CI 80.4–186.5). The mean increase in 24-hour leakage for a one-point increase in self-reported activity level was 118.0g (95% CI 74.3–161.7, p<0.001). Pad weights also varied significantly when self-reported activity levels did not differ (mean difference 51.2g (95% CI 30.3–72.1), p<0.001). Conclusions: 24-hour pad weight leakage may vary significantly on different days of collection. This variation is more pronounced with changes in activity level. Taking into account patient activity level may enhance the predictive value of pad weight testing

Differences Between Mid-Urethral Sling Outcomes in Diabetic and Nondiabetic Women

AIMS: The aim is to assess whether subjects with diabetes mellitus (DM) have greater urinary retention and increased post-void residual volume (PVR) following mid-urethral sling (MUS) surgery. METHODS: This multi-center retrospective study included patients who underwent MUS (2012-2016). Baseline data included demographics, comorbidities, urinary symptoms, urodynamics data, PVR, and responses to validated questionnaires (UDI6 and IIQ7). Intraoperative data, postoperative voiding trial results, postop questionnaires, and complications were also noted. Patients with and without DM were compared. Significance was defined as P \u3c .05. RESULTS: A total of 605 MUS were included, 538(89%) without DM and 67(11%) with DM, of which 69% were transobturator and 31% retropubic. No differences were seen in urinary retention and passing void trial(79% DM vs 81% non-DM; P = .72). Mean PVR at discharge was similar between groups (136 mL DM vs 139 mL non-DM; P = .922). There were no differences between groups in UDI6 and IIQ7 sum scores at baseline and 1 month. DM subjects reported more bother at baseline on certain UDI-6 and IIQ-7 items including frequent urination, leakage related to urgency, and feeling frustrated. At 3 months postop, all subjects demonstrated improvement in scores. Interestingly, patients with DM reported worse quality of life on the IIQ7 sum. CONCLUSIONS: Among subjects with well-controlled diabetes and more comorbidities who underwent MUS there were few differences in postoperative voiding dysfunction or PVR compared to nondiabetic women. DM patients were more bothered at baseline by urge-related symptoms. Quality of life following sling surgery appears to be worse in patients with DM at 3 months based on IIQ7. This data suggests that diabetic women with lower HbA1C can be counseled similarly to these complication rates and voiding dysfunction after MUS