Germ line BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients

Cataloged from PDF version of article.Germ line BRCA1 and/or BRCA2 mutations were screened in 50 Turkish breast and/or ovarian cancer patients composed of hereditary, familial, early onset and male cancer groups. Genomic DNA samples were tested by heteroduplex analysis and DNA sequencing. Two truncating BRCA2 mutations, one novel (6880 insG) and one previously reported (3034 delAAAC), were found in two out of six (33%) hereditary breast and/or ovarian cancer patients. A novel truncating (1200 insA) and a missense (2080A→G) BRCA1 mutation was found in two of 27 (7%) individuals in the early onset group. A total of four (8%) disease-causing mutations in 50 breast cancer patients were identified in BRCA1 and BRCA2 genes. In addition, five BRCA1 sequence variants have been identified in 23 patients. These results indicate that BRCA1 and BRCA2 genes are involved in some, but not all, forms of hereditary predisposition to breast cancer in the Turkish population. Copyright (C) 2000

ICS teaching module: Detrusor leak point pressures in patients with relevant neurological abnormalities

Aims: This manuscript serves as a scientific background review; the evidence base, for the presentation made available on ICS website to summarize current knowledge and recommendations for the measurement and use of the DLPP. Methods: This review has been prepared by a Working Group of The ICS Urodynamics Committee. The methodology used included comprehensive literature review, consensus formation by the members of the Working Group, and review by members of the ICS Urodynamics Committee core panel. Results: DLPP has been recommended and utilized in the urodynamic evaluation of N-LUTD for many years, but it lacks standardization and there are numerous pitfalls in its measurement. EFP and LPP associated with N-DO are frequently and mistakenly reported as DLPP. The information that high DLPP predicts UUTD originates from retrospective cohort studies of a low level of evidence ( LoE 3). Existing data confirm that patients with lower DLPP do better than patients with higher DLPP in terms of their upper urinary tract. However, there appears to be no reliable 'safe/nosafe' cut-off for DLPP since there are other urodynamic factors that influence UUTD such as bladder compliance and more. Conclusion: Although higher DLPP is associated with a greater risk of UUTD, there is no reliable cut-off level to undoubtedly discriminate the risky group, including the traditional cutoff level of 40 cm H2O. Therefore, DLPP should not be used as the sole urodynamic parameter. Future research should be directed to standardization of the technique and better classification of DLPP cut-offs in N-LUTD. (C) 2015 Wiley Periodicals, Inc

Hyperbaric oxygen therapy prevents subarachnoid hemorrhage-induced apoptosis and impaired contractility of the rabbit bladder

Aim To explore the effects of experimental subarachnoid hemorrhage (SAH) on rabbit urinary bladder and to assess the potential protective effects of hyperbaric oxygen therapy (HBOT). Methods A total of 15 male New Zealand white rabbits were divided randomly to one of three groups: group I was spared as the control group (n = 5), group II was exposed to SAH, received no treatment, and acted as the SAH group (n = 5) and group III was exposed to SAH and received five sessions of HBOT (started 12 hours after SAH induction and was given twice daily for the first 2 days and once on the third day) and acted as the treatment group (n = 5). At 72 hours after the SAH induction, bladders from all animals were removed for in vitro organ bath experiments and biochemical analyses. Results Isometric tension studies revealed that compared to group I, the contractile responses of the strips to carbachol in group II were significantly decreased whereas HBOT restored the contractile responses (P < .05). Caspase-3 and nitric oxide synthase (NOS) activities of bladder tissues were significantly increased in group II when compared with group I, whereas caspase-3 and NOS activities were significantly decreased in the tissues of group III (P < .01). Conclusions Subarachnoid hemorrhage stimulates apoptosis of the rabbit bladder and impairs the contractile response of the rabbit bladder to carbachol. HBOT creates a protective effect in rabbit bladder tissues and restores SAH-induced changes.WOS:0005367792000012-s2.0-85085891785PubMed: 3248386