Wewnątrznaczyniowe leczenie tętniaków naczyń mózgowych przy użyciu spirali odczepianych hydraulicznie

Background: Authors analysed results of endovascular treatment using platinum hydraulically detachable coils in ruptured and unruptured cerebral aneurysms. The aim of the study was to evaluate the efficacy of the presented method and safety of the treatment for patients with cerebral aneurysms. Material/Methods: Authors describe a clinical analysis in a group of 129 patients with 153 cerebral aneurysms treated with endovascular embolization in Department of Neurosurgery and Neurotraumatology of University of Medical Sciences in Poznań, Poland. 116 patients were hospitalized with a history of subarachnoidal hemorrhage, while 13 patients were without previous onset of bleeding. In bled group the clinical condition was assessed according to Hunt-Hess's scale. All patients were treated using Balt (MDS Pression) hydraulically detachable coils system. Based on angiographic examination results one evaluated the anatomical conditions of the aneurysm, its size, and relationship of the aneurysmal sac to its neck. Considering 116 patients with ruptured aneurysms, endovascular embolization within 72 hours was performed in 70 cases, in case of 46 patients the procedure was delayed. Results: Complete occlusion of the lumen of the aneurysmal sac was achieved in 126 (82.3%) patients, while incomplete occlusion in 27 (17.7%). The efficacy of embolization was connected with the size and morphology of the aneurysm, as well as the relationship of the neck to the aneurysmal sac. Complete embolization was obtained specially in case of small aneurysms and those with a narrow neck. Conclusions: Authors proof justness of transarterial embolisation as a highly effective first choice procedure of aneurismal sack exclusion from cerebral circulation

Boolean like algebras

Using Vaggione’s concept of central element in a double pointed algebra, we introduce the notion of Boolean like variety as a generalization of Boolean algebras to an arbitrary similarity type. Appropriately relaxing the requirement that every element be central in any member of the variety, we obtain the more general class of semi-Boolean like varieties, which still retain many of the pleasing properties of Boolean algebras. We prove that a double pointed variety is discriminator i↵ it is semi-Boolean like, idempotent, and 0-regular. This theorem yields a new Maltsev-style characterization of double pointed discriminator varieties. Moreover, we show that every idempotent semi-Boolean-like variety is term equivalent to a variety of noncommutative Boolean algebras with additional regular operations

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat

Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

The known breast cancer (BC) susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1,LSP1 and 2q35 confer increased risks of BC for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of three additional SNPs, rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11 and rs10941679 at 5p12 and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased BC risk for BRCA2 carriers (per-allele Hazard Ratio (HR)=1.10, 95%CI:1.03-1.18, p=0.006 and HR=1.09, 95%CI:1.01-1.19, p=0.03, respectively). Neither SNP was associated with BC risk for BRCA1 carriers and rs6504950 was not associated with BC for either BRCA1 or BRCA2 carriers. Of the nine polymorphisms investigated, seven were associated with BC for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, p-values:7×10−11-0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (p=0.0049, 0.03 respectively). All risk associated polymorphisms appear to interact multiplicatively on BC risk for mutation carriers. Based on the joint genotype distribution of the seven risk associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e. between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing BC by age 80, compared with 42-50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences may be sufficient to influence the clinical management of mutation carriers

Olbrzymi nerwiak osłonkowy odcinka lędźwiowego kręgosłupa. Opis przypadku

Giant “invasive” schwannomas of the spine occur occasionally, most frequently in the lumbar region. We present the case of a 46-year-old woman with giant “invasive” schwannoma of the lumbar spine, with a 12-year history of illness. The tumour originated in the vertebral canal and passed through the paraspinal muscles and retroperitoneal area to the abdominal cavity. The part of the tumour which was in the abdominal cavity was removed by means of laparotomy during the first operation. In the second one, the remaining part of the tumour was removed completely from the vertebral canal and retroperitoneal area through posterior-lateral access. The spine was stabilized with metal implants. Histological examination revealed cellular schwannoma. During the follow-up the pain resolved while paresis of the right quadriceps muscle of the thigh was still present. Cellular schwannoma is a benign form of schwannoma, but it may cause a local recurrence if not removed completely.Olbrzymie „inwazyjne” nerwiaki osłonkowe kręgosłupa występują sporadycznie, najczęściej w odcinku lędźwiowym. W pracy przedstawiono przypadek 46-letniej chorej z olbrzymim „inwazyjnym” nerwiakiem osłonkowym odcinka lędźwiowego kręgosłupa, z 12-letnim wywiadem chorobowym. Guz wychodził z kanału kręgowego, a poprzez mięśnie przy-kręgosłupowe i okolicę zaotrzewnową przechodził do jamy brzusznej. Podczas pierwszej operacji drogą laparotomii usunięto część guza znajdującego się w jamie brzusznej. W drugim etapie, z dojścia tylno-bocznego, usunięto doszczętnie pozostałą część guza z kanału kręgowego, przestrzeni zaotrzewnowej i dokonano stabilizacji kręgosłupa implantami metalowymi. Badanie histologiczne wykazało nerwiak osłonkowy komórkowy. W okresie obserwacji u chorej ustąpił ból, nadal utrzymuje się niedowład prawego mięśnia czworogłowego uda. Nerwiak komórkowy jest łagodną postacią nerwiaka osłonkowego, może być jednak przyczyną miejscowej wznowy, jeżeli nie zostanie całkowicie usunięty

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

Item does not contain fulltextBACKGROUND: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. METHODS: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. RESULTS: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. CONCLUSION: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. IMPACT: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk