Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci

Science.gov (United States)

Shen, Changbing; Gao, Jing; Sheng, Yujun; Dou, Jinfa; Zhou, Fusheng; Zheng, Xiaodong; Ko, Randy; Tang, Xianfa; Zhu, Caihong; Yin, Xianyong; Sun, Liangdan; Cui, Yong; Zhang, Xuejun

2016-01-01

Vitiligo is an autoimmune disease with a strong genetic component, characterized by areas of depigmented skin resulting from loss of epidermal melanocytes. Genetic factors are known to play key roles in vitiligo through discoveries in association studies and family studies. Previously, vitiligo susceptibility genes were mainly revealed through linkage analysis and candidate gene studies. Recently, our understanding of the genetic basis of vitiligo has been rapidly advancing through genome-wide association study (GWAS). More than 40 robust susceptible loci have been identified and confirmed to be associated with vitiligo by using GWAS. Most of these associated genes participate in important pathways involved in the pathogenesis of vitiligo. Many susceptible loci with unknown functions in the pathogenesis of vitiligo have also been identified, indicating that additional molecular mechanisms may contribute to the risk of developing vitiligo. In this review, we summarize the key loci that are of genome-wide significance, which have been shown to influence vitiligo risk. These genetic loci may help build the foundation for genetic diagnosis and personalize treatment for patients with vitiligo in the future. However, substantial additional studies, including gene-targeted and functional studies, are required to confirm the causality of the genetic variants and their biological relevance in the development of vitiligo. PMID:26870082

Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections

Directory of Open Access Journals (Sweden)

Marcelo Cury

2013-01-01

Full Text Available There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS, Ehlers-Danlos syndrome (EDS, Loeys-Dietz syndrome (LDS, familial thoracic aortic aneurysms and dissections (TAAD, bicuspid aortic valve disease (BAV, and autosomal dominant polycystic kidney disease (ADPKD. In the absence of familial history and other clinical findings, the proportion of thoracic and abdominal aortic aneurysms and dissections resulting from a genetic predisposition is still unknown. In this study, we propose the review of the current genetic knowledge in the aortic disease, observing, in the results that the causative genes and molecular pathways involved in the pathophysiology of aortic aneurysm disease remain undiscovered and continue to be an area of intensive research.

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

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Jansen, Anne M L; Geilenkirchen, Marije A; van Wezel, Tom; Jagmohan-Changur, Shantie C; Ruano, Dina; van der Klift, Heleen M; van den Akker, Brendy E W M; Laros, Jeroen F J; van Galen, Michiel; Wagner, Anja; Letteboer, Tom G W; Gómez-García, Encarna B; Tops, Carli M J; Vasen, Hans F; Devilee, Peter; Hes, Frederik J; Morreau, Hans; Wijnen, Juul T

2016-01-01

Lynch Syndrome (LS) is caused by pathogenic germline variants in one of the mismatch repair (MMR) genes. However, up to 60% of MMR-deficient colorectal cancer cases are categorized as suspected Lynch Syndrome (sLS) because no pathogenic MMR germline variant can be identified, which leads to difficulties in clinical management. We therefore analyzed the genomic regions of 15 CRC susceptibility genes in leukocyte DNA of 34 unrelated sLS patients and 11 patients with MLH1 hypermethylated tumors with a clear family history. Using targeted next-generation sequencing, we analyzed the entire non-repetitive genomic sequence, including intronic and regulatory sequences, of 15 CRC susceptibility genes. In addition, tumor DNA from 28 sLS patients was analyzed for somatic MMR variants. Of 1979 germline variants found in the leukocyte DNA of 34 sLS patients, one was a pathogenic variant (MLH1 c.1667+1delG). Leukocyte DNA of 11 patients with MLH1 hypermethylated tumors was negative for pathogenic germline variants in the tested CRC susceptibility genes and for germline MLH1 hypermethylation. Somatic DNA analysis of 28 sLS tumors identified eight (29%) cases with two pathogenic somatic variants, one with a VUS predicted to pathogenic and LOH, and nine cases (32%) with one pathogenic somatic variant (n = 8) or one VUS predicted to be pathogenic (n = 1). This is the first study in sLS patients to include the entire genomic sequence of CRC susceptibility genes. An underlying somatic or germline MMR gene defect was identified in ten of 34 sLS patients (29%). In the remaining sLS patients, the underlying genetic defect explaining the MMRdeficiency in their tumors might be found outside the genomic regions harboring the MMR and other known CRC susceptibility genes.

Gene expression profile of blood cells for the prediction of delayed cerebral ischemia after intracranial aneurysm rupture: a pilot study in humans.

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Baumann, Antoine; Devaux, Yvan; Audibert, Gérard; Zhang, Lu; Bracard, Serge; Colnat-Coulbois, Sophie; Klein, Olivier; Zannad, Faiez; Charpentier, Claire; Longrois, Dan; Mertes, Paul-Michel

2013-01-01

Delayed cerebral ischemia (DCI) is a potentially devastating complication after intracranial aneurysm rupture and its mechanisms remain poorly elucidated. Early identification of the patients prone to developing DCI after rupture may represent a major breakthrough in its prevention and treatment. The single gene approach of DCI has demonstrated interest in humans. We hypothesized that whole genome expression profile of blood cells may be useful for better comprehension and prediction of aneurysmal DCI. Over a 35-month period, 218 patients with aneurysm rupture were included in this study. DCI was defined as the occurrence of a new delayed neurological deficit occurring within 2 weeks after aneurysm rupture with evidence of ischemia either on perfusion-diffusion MRI, CT angiography or CT perfusion imaging, or with cerebral angiography. DCI patients were matched against controls based on 4 out of 5 criteria (age, sex, Fisher grade, aneurysm location and smoking status). Genome-wide expression analysis of blood cells obtained at admission was performed by microarrays. Transcriptomic analysis was performed using long oligonucleotide microarrays representing 25,000 genes. Quantitative PCR: 1 µg of total RNA extracted was reverse-transcribed, and the resulting cDNA was diluted 10-fold before performing quantitative PCR. Microarray data were first analyzed by 'Significance Analysis of Microarrays' software which includes the Benjamini correction for multiple testing. In a second step, microarray data fold change was compared using a two-tailed, paired t test. Analysis of receiver-operating characteristic (ROC) curves and the area under the ROC curves were used for prediction analysis. Logistic regression models were used to investigate the additive value of multiple biomarkers. A total of 16 patients demonstrated DCI. Significance Analysis of Microarrays software failed to retrieve significant genes, most probably because of the heterogeneity of the patients included in

Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.

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Li, Fei-Feng; Wang, Xu-Dong; Zhu, Min-Wei; Lou, Zhi-Hong; Zhang, Qiong; Zhu, Chun-Yu; Feng, Hong-Lin; Lin, Zhi-Guo; Liu, Shu-Lin

2015-12-01

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a highly detrimental human autosomal inherited recessive disorder. The hallmark characteristics of this disease are intrauterine and postnatal growth restrictions, with some patients also having cerebrovascular problems such as cerebral aneurysms. The genomic basis behind most clinical features of MOPD II remains largely unclear. The aim of this work was to identify the genetic defects in a Chinese family with MOPD II associated with multiple intracranial aneurysms. The patient had typical MOPD II syndrome, with subarachnoid hemorrhage and multiple intracranial aneurysms. We identified three novel mutations in the PCNT gene, including one single base alteration (9842A>C in exon 45) and two deletions (Del-C in exon 30 and Del-16 in exon 41). The deletions were co-segregated with the affected individual in the family and were not present in the control population. Computer modeling demonstrated that the deletions may cause drastic changes on the secondary and tertiary structures, affecting the hydrophilicity and hydrophobicity of the mutant proteins. In conclusion, we identified two novel mutations in the PCNT gene associated with MOPD II and intracranial aneurysms, and the mutations were expected to alter the stability and functioning of the protein by computer modeling.

Magnetic resonance angiography with ultrashort echo times reduces the artefact of aneurysm clips

International Nuclear Information System (INIS)

Goenner, F.; Heid, O.; Remonda, L.; Schroth, G.; Loevblad, K.O.; Guzman, R.; Barth, A.

2002-01-01

We evaluated the ability of an ultrashort echo time (TE) three-dimensional (3D) time-of-flight (TOF) magnetic resonance angiography (MRA) sequence to reduce the metal artefact of intracranial aneurysm clips and to display adjacent cerebral arteries. In five patients (aged 8-72 years) treated with Elgiloy or Phynox aneurysm clips we prospectively performed a conventional (TE 6.0 ms) and a new ultrashort TE (TE 2.4 ms) 3D TOF MRA. We compared the diameter of the clip-induced susceptibility artefact and the detectability of flow in adjacent vessels. The mean artefact diameter was 22.3±6.4 mm (range 14-38 mm) with the ultrashort TE and 27.7±6.4 mm (range 19-45 mm) with the conventional MRA (P<0.0001). This corresponded to a diameter reduction of 19.5±9.2%. More parts of adjacent vessels were detected, but with less intense flow signal. The aneurysm dome and neck remained within the area of signal loss and were therefore not displayed. Ultrashort TE MRA is a noninvasive and fast method for improving detection of vessels adjacent to clipped intracranial aneurysms, by reducing clip-induced susceptibility artefact. The method cannot, however, be used to show remnants of the aneurysm neck or sac as a result of imperfect clipping. (orig.)

Common Variants of the ACE Gene and Aneurysmal Subarachnoid Hemorrhage in a Danish Population: A Case-control Study

DEFF Research Database (Denmark)

Staalsø, Jonatan Myrup; Nielsen, Morten; Edsen, Troels BS

2011-01-01

OBJECTIVE: The intron 16 insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene has been associated with rupture of intracranial aneurysms, but the effect of haplotypes within ACE has not been studied. This study investigated whether ACE haplotypes including the I...... C/G, rs4305 C/T, rs4311 C/T, rs4331 T/C, rs4343 C/T) in the ACE gene were genotyped along with the I/D polymorphism. Haplotypes were estimated using the PHASE software. RESULTS: Fifty-five haplotypes were identified with 3 of these having a frequency above 5%: ACCCCIT (41.6±0.4%), TGTTTDC (32.......1±0.5%), and ACCTTDC (9.5±0.2%). No significant difference in distribution of alleles, genotypes, haplotypes, or haplotype pairs between the 2 populations was found. Specifically, we could not reproduce previously reported associations between the ACE I genotype and intracranial aneurysms. When subdivided into groups...

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

NARCIS (Netherlands)

Gretarsdottir, Solveig; Baas, Annette F.; Thorleifsson, Gudmar; Holm, Hilma; den Heijer, Martin; de Vries, Jean-Paul P. M.; Kranendonk, Steef E.; Zeebregts, Clark J. A. M.; van Sterkenburg, Steven M.; Geelkerken, Robert H.; van Rij, Andre M.; Williams, Michael J. A.; Boll, Albert P. M.; Kostic, Jelena P.; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Walters, G. Bragi; Masson, Gisli; Sulem, Patrick; Saemundsdottir, Jona; Mouy, Magali; Magnusson, Kristinn P.; Tromp, Gerard; Elmore, James R.; Sakalihasan, Natzi; Limet, Raymond; Defraigne, Jean-Olivier; Ferrell, Robert E.; Ronkainen, Antti; Ruigrok, Ynte M.; Wijmenga, Cisca; Grobbee, Diederick E.; Shah, Svati H.; Granger, Christopher B.; Quyyumi, Arshed A.; Vaccarino, Viola; Patel, Riyaz S.; Zafari, A. Maziar; Levey, Allan I.; Austin, Harland; Girelli, Domenico; Pignatti, Pier Franco; Olivieri, Oliviero; Martinelli, Nicola; Malerba, Giovanni; Trabetti, Elisabetta; Becker, Lewis C.; Becker, Diane M.; Reilly, Muredach P.; Rader, Daniel J.; Mueller, Thomas; Dieplinger, Benjamin; Haltmayer, Meinhard; Urbonavicius, Sigitas; Lindblad, Bengt; Gottsater, Anders; Gaetani, Eleonora; Pola, Roberto; Wells, Philip; Rodger, Marc; Forgie, Melissa; Langlois, Nicole; Corral, Javier; Vicente, Vicente; Fontcuberta, Jordi; Espana, Francisco; Grarup, Niels; Jorgensen, Torben; Witte, Daniel R.; Hansen, Torben; Pedersen, Oluf; Aben, Katja K.; de Graaf, Jacqueline; Holewijn, Suzanne; Folkersen, Lasse; Franco-Cereceda, Anders; Eriksson, Per; Collier, David A.; Stefansson, Hreinn; Steinthorsdottir, Valgerdur; Rafnar, Thorunn; Valdimarsson, Einar M.; Magnadottir, Hulda B.; Sveinbjornsdottir, Sigurlaug; Olafsson, Isleifur; Magnusson, Magnus Karl; Palmason, Robert; Haraldsdottir, Vilhelmina; Andersen, Karl; Onundarson, Pall T.; Thorgeirsson, Gudmundur; Kiemeney, Lambertus A.; Powell, Janet T.; Carey, David J.; Kuivaniemi, Helena; Lindholt, Jes S.; Jones, Gregory T.; Kong, Augustine; Blankensteijn, Jan D.; Matthiasson, Stefan E.; Thorsteinsdottir, Unnur; Stefansson, Kari

We performed a genome-wide association study on 1,292 individuals with abdominal aortic aneurysms (AAAs) and 30,503 controls from Iceland and The Netherlands, with a follow-up of top markers in up to 3,267 individuals with AAAs and 7,451 controls. The A allele of rs7025486 on 9q33 was found to

Mycotic aneurysm in a turtle hunter: brief review and a case report

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Harsha Moole

2015-06-01

Full Text Available Salmonella-associated mycotic aneurysm is a rare, but dreaded, complication of salmonellosis. Immunocompromised and elderly populations are more susceptible to develop this extra-intestinal complication. Salmonella is spread via fecal–oral and vehicle-borne routes. Reptiles, especially small pet turtles, have been linked with an increased risk of Salmonella infection. Diagnosis of mycotic aneurysm is a challenge due to atypical presentations. Recently, widespread use of CT scan imaging to evaluate for unexplained abdominal pain and sepsis has led to early identification of mycotic aneurysms. Antibiotic therapy and surgical intervention are the cornerstones of management. Open surgery has been the gold standard of treatment but is associated with increased morbidity and mortality. A relatively new alternative to open surgery is endovascular aneurysm repair (EVAR. It is comparatively less invasive and is associated with reduced early morbidity and mortality in the setting of mycotic aneurysm. However, there is a risk of late infection. Here, we present a patient with Salmonella mycotic aneurysm initially treated conservatively with antibiotic therapy who later underwent successful interval EVAR with no complications to date. Also included is a brief review of Salmonella-associated mycotic aneurysms.

Simulation of spreading depolarization trajectories in cerebral cortex: Correlation of velocity and susceptibility in patients with aneurysmal subarachnoid hemorrhage

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Denny Milakara

2017-01-01

Full Text Available In many cerebral grey matter structures including the neocortex, spreading depolarization (SD is the principal mechanism of the near-complete breakdown of the transcellular ion gradients with abrupt water influx into neurons. Accordingly, SDs are abundantly recorded in patients with traumatic brain injury, spontaneous intracerebral hemorrhage, aneurysmal subarachnoid hemorrhage (aSAH and malignant hemispheric stroke using subdural electrode strips. SD is observed as a large slow potential change, spreading in the cortex at velocities between 2 and 9 mm/min. Velocity and SD susceptibility typically correlate positively in various animal models. In patients monitored in neurocritical care, the Co-Operative Studies on Brain Injury Depolarizations (COSBID recommends several variables to quantify SD occurrence and susceptibility, although accurate measures of SD velocity have not been possible. Therefore, we developed an algorithm to estimate SD velocities based on reconstructing SD trajectories of the wave-front's curvature center from magnetic resonance imaging scans and time-of-SD-arrival-differences between subdural electrode pairs. We then correlated variables indicating SD susceptibility with algorithm-estimated SD velocities in twelve aSAH patients. Highly significant correlations supported the algorithm's validity. The trajectory search failed significantly more often for SDs recorded directly over emerging focal brain lesions suggesting in humans similar to animals that the complexity of SD propagation paths increase in tissue undergoing injury.

Magnetic Resonance Imaging Susceptibility-Weighted Imaging Lesion and Contrast Enhancement May Represent Infectious Intracranial Aneurysm in Infective Endocarditis.

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Cho, Sung-Min; Rice, Cory; Marquardt, Robert J; Zhang, Lucy Q; Khoury, Jean; Thatikunta, Prateek; Buletko, Andrew B; Hardman, Julian; Uchino, Ken; Wisco, Dolora

2017-01-01

Infectious intracranial aneurysm (IIA) can complicate infective endocarditis (IE). We aimed to describe the magnetic resonance imaging (MRI) characteristics of IIA. We reviewed IIAs among 116 consecutive patients with active IE by conducting a neurological evaluation at a single tertiary referral center from January 2015 to July 2016. MRIs and digital cerebral angiograms (DSA) were reviewed to identify MRI characteristics of IIAs. MRI susceptibility weighted imaging (SWI) was performed to collect data on cerebral microbleeds (CMBs) and sulcal SWI lesions. Out of 116 persons, 74 (63.8%) underwent DSA. IIAs were identified in 13 (17.6% of DSA, 11.2% of entire cohort) and 10 patients with aneurysms underwent MRI with SWI sequence. Nine (90%) out of 10 persons with IIAs had CMB >5 mm or sulcal lesions in SWI (9 in sulci, 6 in parenchyma, and 5 in both). Five out of 8 persons who underwent MRI brain with contrast had enhancement within the SWI lesions. In a multivariate logistic regression analysis, both sulcal SWI lesions (p < 0.001, OR 69, 95% CI 7.8-610) and contrast enhancement (p = 0.007, OR 16.5, 95% CI 2.3-121) were found to be significant predictors of the presence of IIAs. In the individuals with IE who underwent DSA and MRI, we found that neuroimaging characteristics, such as sulcal SWI lesion with or without contrast enhancement, are associated with the presence of IIA. © 2017 S. Karger AG, Basel.

Microarray analysis to identify the similarities and differences of pathogenesis between aortic occlusive disease and abdominal aortic aneurysm.

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Wang, Guofu; Bi, Lechang; Wang, Gaofeng; Huang, Feilai; Lu, Mingjing; Zhu, Kai

2018-06-01

Objectives Expression profile of GSE57691 was analyzed to identify the similarities and differences between aortic occlusive disease and abdominal aortic aneurysm. Methods The expression profile of GSE57691 was downloaded from Gene Expression Omnibus database, including 20 small abdominal aortic aneurysm samples, 29 large abdominal aortic aneurysm samples, 9 aortic occlusive disease samples, and 10 control samples. Using the limma package in R, the differentially expressed genes were screened. Followed by enrichment analysis was performed for the differentially expressed genes using database for annotation, visualization, and integrated discovery online tool. Based on string online tool and Cytoscape software, protein-protein interaction network and module analyses were carried out. Moreover, integrated TF platform database and Cytoscape software were used for constructing transcriptional regulatory networks. Results As a result, 1757, 354, and 396 differentially expressed genes separately were identified in aortic occlusive disease, large abdominal aortic aneurysm, and small abdominal aortic aneurysm samples. UBB was significantly enriched in proteolysis related pathways with a high degree in three groups. SPARCL1 was another gene shared by these groups and regulated by NFIA, which had a high degree in transcriptional regulatory network. ACTB, a significant upregulated gene in abdominal aortic aneurysm samples, could be regulated by CLIC4, which was significantly enriched in cell motions. ACLY and NFIB were separately identified in aortic occlusive disease and small abdominal aortic aneurysm samples, and separately enriched in lipid metabolism and negative regulation of cell proliferation. Conclusions The downregulated UBB, NFIA, and SPARCL1 might play key roles in both aortic occlusive disease and abdominal aortic aneurysm, while the upregulated ACTB might only involve in abdominal aortic aneurysm. ACLY and NFIB were specifically involved in aortic occlusive

Network Analysis of Human Genes Influencing Susceptibility to Mycobacterial Infections

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Lipner, Ettie M.; Garcia, Benjamin J.; Strong, Michael

2016-01-01

Tuberculosis and nontuberculous mycobacterial infections constitute a high burden of pulmonary disease in humans, resulting in over 1.5 million deaths per year. Building on the premise that genetic factors influence the instance, progression, and defense of infectious disease, we undertook a systems biology approach to investigate relationships among genetic factors that may play a role in increased susceptibility or control of mycobacterial infections. We combined literature and database mining with network analysis and pathway enrichment analysis to examine genes, pathways, and networks, involved in the human response to Mycobacterium tuberculosis and nontuberculous mycobacterial infections. This approach allowed us to examine functional relationships among reported genes, and to identify novel genes and enriched pathways that may play a role in mycobacterial susceptibility or control. Our findings suggest that the primary pathways and genes influencing mycobacterial infection control involve an interplay between innate and adaptive immune proteins and pathways. Signaling pathways involved in autoimmune disease were significantly enriched as revealed in our networks. Mycobacterial disease susceptibility networks were also examined within the context of gene-chemical relationships, in order to identify putative drugs and nutrients with potential beneficial immunomodulatory or anti-mycobacterial effects. PMID:26751573

Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

Science.gov (United States)

Dobbins, Sara E; Broderick, Peter; Chubb, Daniel; Kinnersley, Ben; Sherborne, Amy L; Houlston, Richard S

2016-10-01

Although family history is a major risk factor for colorectal cancer (CRC) a genetic diagnosis cannot be obtained in over 50 % of familial cases when screened for known CRC cancer susceptibility genes. The genetics of undefined-familial CRC is complex and recent studies have implied additional clinically actionable mutations for CRC in susceptibility genes for other cancers. To clarify the contribution of non-CRC susceptibility genes to undefined-familial CRC we conducted a mutational screen of 114 cancer susceptibility genes in 847 patients with early-onset undefined-familial CRC and 1609 controls by analysing high-coverage exome sequencing data. We implemented American College of Medical Genetics and Genomics standards and guidelines for assigning pathogenicity to variants. Globally across all 114 cancer susceptibility genes no statistically significant enrichment of likely pathogenic variants was shown (6.7 % cases 57/847, 5.3 % controls 85/1609; P = 0.15). Moreover there was no significant enrichment of mutations in genes such as TP53 or BRCA2 which have been proposed for clinical testing in CRC. In conclusion, while we identified genes that may be considered interesting candidates as determinants of CRC risk warranting further research, there is currently scant evidence to support a role for genes other than those responsible for established CRC syndromes in the clinical management of familial CRC.

Role of T cell receptor delta gene in susceptibility to celiac disease.

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Roschmann, E; Wienker, T F; Volk, B A

1996-02-01

There is a strong genetic influence on the susceptibility to celiac disease. Although in the vast majority of patients with celiac disease, the HLA-DQ(alpha1*0501, beta1*0201) heterodimer encoded by the alleles HLA-DQA1*0501 and HLA-DQB1*0201 seems to confer the primary disease susceptibility, it cannot be excluded that other genes contribute to disease susceptibility, as indicated by the difference in concordance rates between monozygotic twins and HLA identical siblings (70% vs. 30%). Obviously other genes involved in the genetic control of T cell mediated immune response could potentially influence susceptibility to celiac disease. The density of T cells using the gammadelta T cell receptor (TCR) is considerably increased in the jejunal epithelium of patients with celiac disease, an abnormality considered to be specific for celiac disease. This suggests an involvement of gammadelta T cells in the pathogenesis of the disease. To ascertain whether the TCR delta (TCRD) gene contributes to celiac disease susceptibility we carried out an association study and genetic linkage analysis using a highly polymorphic microsatellite marker at the TCRD locus on chromosome 14q11.2. The association study demonstrated no significant difference in allele frequencies of the TCRD gene marker between celiac disease patients and controls; accordingly, the relative risk estimates did not reach the level of statistical significance. In the linkage analysis, performed in 23 families, the logarithm of the odds (LOD) scores calculated for celiac disease versus the TCRD gene marker excluded linkage, suggesting that there is no determinant contributing to celiac disease status at or 5 cM distant to the analyzed TCRD gene marker. In conclusion, the results of the present study provide no evidence that the analyzed TCRD gene contributes substantially to celiac disease susceptibility.

Polymorphisms of the interleukin-6 gene promoter and abdominal aortic aneurysm.

Science.gov (United States)

Smallwood, L; Allcock, R; van Bockxmeer, F; Warrington, N; Palmer, L J; Iacopetta, B; Norman, P E

2008-01-01

Elevated levels of circulating interleukin-6 (IL-6) have been reported in patients with abdominal aortic aneurysms (AAAs). Although this implicates inflammation as a cause of AAAs, there is also evidence that the aneurysmal aorta may secrete IL-6 into the circulation as a result of aortic proteolysis. Genetic association studies are one means of trying to clarify the role of specific mediators in the causal pathway. The aim of the present study was to examine the association between variants of the IL-6 gene and AAAs. An association study involving 677 men with screen-detected AAAs and 656 age-matched controls was performed. Three variants in the IL-6 promoter region were analysed: IL-6-174G>C (rs1800795), IL-6-572G>C (rs1800796) and IL-6-597G>A (rs1800797). Univariate regression of SNP genotype on AAA as a binary outcome was initially performed under a range of genetic models (additive, dominant and recessive). This was followed by multivariate analyses, testing the same models but including risk factors known to be associated with AAAs. All analyses and haplotype estimation were performed under a generalized linear model framework. IL-6-572G>C polymorphism (frequency 1.5% in cases) was identified as an independent risk factor for AAA with an odds ratio (OR) of 6.00 (95%CI: 1.22, 29.41) when applied to the recessive model. No association was seen in the additive or dominant models. In a multivariate analysis using the most common haplotype (h.111, frequency 48.7%) as a reference, h.211 (frequency 4.4%) was an independent risk factor for AAA (OR 1.56, 95%CI: 1.02, 2.39). The IL-6 572G>C polymorphism (and h.211 haplotype) is associated with AAA, however it is too rare to be an important cause of most AAAs. This does not support the concept that the elevated level of IL-6 reported in patients with AAAs is a primary cause of the aneurysmal process.

Identification of candidate new cancer susceptibility genes using yeast genomics

International Nuclear Information System (INIS)

Brown, M.; Brown, J.A.; Game, J.C.

2003-01-01

A large proportion of cancer susceptibility syndromes are the result of mutations in genes in DNA repair or in cell-cycle checkpoints in response to DNA damage, such as ataxia telangiectasia (AT), Fanconi's anemia (FA), Bloom's syndrome (BS), Nijmegen breakage syndrome (NBS), and xeroderma pigmentosum (XP). Mutations in these genes often cause gross chromosomal instability leading to an increased mutation rate of all genes including those directly responsible for cancer. We have proposed that because the orthologs of these genes in budding yeast, S. cerevisiae, confer protection against killing by DNA damaging agents it should be possible to identify new cancer susceptibility genes by identifying yeast genes whose deletion causes sensitivity to DNA damage. We therefore screened the recently completed collection of individual gene deletion mutants to identify genes that affect sensitivity to DNA-damaging agents. Screening for sensitivity in this obtained up to now with the F98 glioma model othe fact that each deleted gene is replaced by a cassette containing two molecular 'barcodes', or 20-mers, that uniquely identify the strain when DNA from a pool of strains is hybridized to an oligonucleotide array containing the complementary sequences of the barcodes. We performed the screen with UV, IR, H 2 0 2 and other DNA damaging agents. In addition to identifying genes already known to confer resistance to DNA damaging agents we have identified, and individually confirmed, several genes not previously associated with resistance. Several of these are of unknown function. We have also examined the chromosomal stability of selected strains and found that IR sensitive strains often but not always exhibit genomic instability. We are presently constructing a yeast artificial chromosome to globally interrogate all the genes in the deletion pool for their involvement in genomic stability. This work shows that budding yeast is a valuable eukaryotic model organism to identify

Identification of candidate genes for dyslexia susceptibility on chromosome 18.

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Thomas S Scerri

2010-10-01

Full Text Available Six independent studies have identified linkage to chromosome 18 for developmental dyslexia or general reading ability. Until now, no candidate genes have been identified to explain this linkage. Here, we set out to identify the gene(s conferring susceptibility by a two stage strategy of linkage and association analysis.Linkage analysis: 264 UK families and 155 US families each containing at least one child diagnosed with dyslexia were genotyped with a dense set of microsatellite markers on chromosome 18. Association analysis: Using a discovery sample of 187 UK families, nearly 3000 SNPs were genotyped across the chromosome 18 dyslexia susceptibility candidate region. Following association analysis, the top ranking SNPs were then genotyped in the remaining samples. The linkage analysis revealed a broad signal that spans approximately 40 Mb from 18p11.2 to 18q12.2. Following the association analysis and subsequent replication attempts, we observed consistent association with the same SNPs in three genes; melanocortin 5 receptor (MC5R, dymeclin (DYM and neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L.Along with already published biological evidence, MC5R, DYM and NEDD4L make attractive candidates for dyslexia susceptibility genes. However, further replication and functional studies are still required.

Allele-specific DNA methylation of disease susceptibility genes in Japanese patients with inflammatory bowel disease.

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Chiba, Hirofumi; Kakuta, Yoichi; Kinouchi, Yoshitaka; Kawai, Yosuke; Watanabe, Kazuhiro; Nagao, Munenori; Naito, Takeo; Onodera, Motoyuki; Moroi, Rintaro; Kuroha, Masatake; Kanazawa, Yoshitake; Kimura, Tomoya; Shiga, Hisashi; Endo, Katsuya; Negoro, Kenichi; Nagasaki, Masao; Unno, Michiaki; Shimosegawa, Tooru

2018-01-01

Inflammatory bowel disease (IBD) has an unknown etiology; however, accumulating evidence suggests that IBD is a multifactorial disease influenced by a combination of genetic and environmental factors. The influence of genetic variants on DNA methylation in cis and cis effects on expression have been demonstrated. We hypothesized that IBD susceptibility single-nucleotide polymorphisms (SNPs) regulate susceptibility gene expressions in cis by regulating DNA methylation around SNPs. For this, we determined cis-regulated allele-specific DNA methylation (ASM) around IBD susceptibility genes in CD4+ effector/memory T cells (Tem) in lamina propria mononuclear cells (LPMCs) in patients with IBD and examined the association between the ASM SNP genotype and neighboring susceptibility gene expressions. CD4+ effector/memory T cells (Tem) were isolated from LPMCs in 15 Japanese IBD patients (ten Crohn's disease [CD] and five ulcerative colitis [UC] patients). ASM analysis was performed by methylation-sensitive SNP array analysis. We defined ASM as a changing average relative allele score ([Formula: see text]) >0.1 after digestion by methylation-sensitive restriction enzymes. Among SNPs showing [Formula: see text] >0.1, we extracted the probes located on tag-SNPs of 200 IBD susceptibility loci and around IBD susceptibility genes as candidate ASM SNPs. To validate ASM, bisulfite-pyrosequencing was performed. Transcriptome analysis was examined in 11 IBD patients (seven CD and four UC patients). The relation between rs36221701 genotype and neighboring gene expressions were analyzed. We extracted six candidate ASM SNPs around IBD susceptibility genes. The top of [Formula: see text] (0.23) was rs1130368 located on HLA-DQB1. ASM around rs36221701 ([Formula: see text] = 0.14) located near SMAD3 was validated using bisulfite pyrosequencing. The SMAD3 expression was significantly associated with the rs36221701 genotype (p = 0.016). We confirmed the existence of cis-regulated ASM around

Allele-specific DNA methylation of disease susceptibility genes in Japanese patients with inflammatory bowel disease

Science.gov (United States)

Chiba, Hirofumi; Kakuta, Yoichi; Kinouchi, Yoshitaka; Kawai, Yosuke; Watanabe, Kazuhiro; Nagao, Munenori; Naito, Takeo; Onodera, Motoyuki; Moroi, Rintaro; Kuroha, Masatake; Kanazawa, Yoshitake; Kimura, Tomoya; Shiga, Hisashi; Endo, Katsuya; Negoro, Kenichi; Nagasaki, Masao; Unno, Michiaki; Shimosegawa, Tooru

2018-01-01

Background Inflammatory bowel disease (IBD) has an unknown etiology; however, accumulating evidence suggests that IBD is a multifactorial disease influenced by a combination of genetic and environmental factors. The influence of genetic variants on DNA methylation in cis and cis effects on expression have been demonstrated. We hypothesized that IBD susceptibility single-nucleotide polymorphisms (SNPs) regulate susceptibility gene expressions in cis by regulating DNA methylation around SNPs. For this, we determined cis-regulated allele-specific DNA methylation (ASM) around IBD susceptibility genes in CD4+ effector/memory T cells (Tem) in lamina propria mononuclear cells (LPMCs) in patients with IBD and examined the association between the ASM SNP genotype and neighboring susceptibility gene expressions. Methods CD4+ effector/memory T cells (Tem) were isolated from LPMCs in 15 Japanese IBD patients (ten Crohn's disease [CD] and five ulcerative colitis [UC] patients). ASM analysis was performed by methylation-sensitive SNP array analysis. We defined ASM as a changing average relative allele score (ΔRAS¯) >0.1 after digestion by methylation-sensitive restriction enzymes. Among SNPs showing ΔRAS¯ >0.1, we extracted the probes located on tag-SNPs of 200 IBD susceptibility loci and around IBD susceptibility genes as candidate ASM SNPs. To validate ASM, bisulfite-pyrosequencing was performed. Transcriptome analysis was examined in 11 IBD patients (seven CD and four UC patients). The relation between rs36221701 genotype and neighboring gene expressions were analyzed. Results We extracted six candidate ASM SNPs around IBD susceptibility genes. The top of ΔRAS¯ (0.23) was rs1130368 located on HLA-DQB1. ASM around rs36221701 (ΔRAS¯ = 0.14) located near SMAD3 was validated using bisulfite pyrosequencing. The SMAD3 expression was significantly associated with the rs36221701 genotype (p = 0.016). Conclusions We confirmed the existence of cis-regulated ASM around IBD

Circuit-wide Transcriptional Profiling Reveals Brain Region-Specific Gene Networks Regulating Depression Susceptibility.

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Bagot, Rosemary C; Cates, Hannah M; Purushothaman, Immanuel; Lorsch, Zachary S; Walker, Deena M; Wang, Junshi; Huang, Xiaojie; Schlüter, Oliver M; Maze, Ian; Peña, Catherine J; Heller, Elizabeth A; Issler, Orna; Wang, Minghui; Song, Won-Min; Stein, Jason L; Liu, Xiaochuan; Doyle, Marie A; Scobie, Kimberly N; Sun, Hao Sheng; Neve, Rachael L; Geschwind, Daniel; Dong, Yan; Shen, Li; Zhang, Bin; Nestler, Eric J

2016-06-01

Depression is a complex, heterogeneous disorder and a leading contributor to the global burden of disease. Most previous research has focused on individual brain regions and genes contributing to depression. However, emerging evidence in humans and animal models suggests that dysregulated circuit function and gene expression across multiple brain regions drive depressive phenotypes. Here, we performed RNA sequencing on four brain regions from control animals and those susceptible or resilient to chronic social defeat stress at multiple time points. We employed an integrative network biology approach to identify transcriptional networks and key driver genes that regulate susceptibility to depressive-like symptoms. Further, we validated in vivo several key drivers and their associated transcriptional networks that regulate depression susceptibility and confirmed their functional significance at the levels of gene transcription, synaptic regulation, and behavior. Our study reveals novel transcriptional networks that control stress susceptibility and offers fundamentally new leads for antidepressant drug discovery. Copyright © 2016 Elsevier Inc. All rights reserved.

Identification of Genetic Susceptibility to Childhood Cancer through Analysis of Genes in Parallel

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Plon, Sharon E.; Wheeler, David A.; Strong, Louise C.; Tomlinson, Gail E.; Pirics, Michael; Meng, Qingchang; Cheung, Hannah C.; Begin, Phyllis R.; Muzny, Donna M.; Lewis, Lora; Biegel, Jaclyn A.; Gibbs, Richard A.

2011-01-01

Clinical cancer genetic susceptibility analysis typically proceeds sequentially beginning with the most likely causative gene. The process is time consuming and the yield is low particularly for families with unusual patterns of cancer. We determined the results of in parallel mutation analysis of a large cancer-associated gene panel. We performed deletion analysis and sequenced the coding regions of 45 genes (8 oncogenes and 37 tumor suppressor or DNA repair genes) in 48 childhood cancer patients who also (1) were diagnosed with a second malignancy under age 30, (2) have a sibling diagnosed with cancer under age 30 and/or (3) have a major congenital anomaly or developmental delay. Deleterious mutations were identified in 6 of 48 (13%) families, 4 of which met the sibling criteria. Mutations were identified in genes previously implicated in both dominant and recessive childhood syndromes including SMARCB1, PMS2, and TP53. No pathogenic deletions were identified. This approach has provided efficient identification of childhood cancer susceptibility mutations and will have greater utility as additional cancer susceptibility genes are identified. Integrating parallel analysis of large gene panels into clinical testing will speed results and increase diagnostic yield. The failure to detect mutations in 87% of families highlights that a number of childhood cancer susceptibility genes remain to be discovered. PMID:21356188

The BTNL2 G16071A gene polymorphism increases granulomatous disease susceptibility

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Tong, Xiang; Ma, Yao; Niu, Xundong; Yan, Zhipeng; Liu, Sitong; Peng, Bo; Peng, Shifeng; Fan, Hong

2016-01-01

Abstract Objective: The butyrophilin-like 2 (BTNL2) G16071A gene polymorphism has been implicated in the susceptibility to granulomatous diseases, but the results were inconclusive. The objective of the current study was to precisely explore the relationship between BTNL2 G16071A gene polymorphism and granulomatous disease susceptibility by the meta-analysis including false-positive report probability (FPRP) test. Methods: A systematic literature search in the PubMed, Embase, and Wanfang databases, China National Knowledge Internet, and commercial Internet search engines was conducted to identify studies published up to April 1, 2016. The odds ratio (OR) with 95% confidence interval (CI) was used to assess the effect size. Statistical analysis was conducted using the STATA 12.0 software and FPRP test sheet. Results: In total, all 4324 cases and 4386 controls from 14 eligible studies were included in the current meta-analysis. By the overall meta-analysis, we found a significant association between BTNL2 G16071A gene polymorphism and granulomatous disease susceptibility (A vs G: OR = 1.25, 95% CI = 1.07–1.45, P = 0.005). The meta-regression analyses showed that a large proportion of the between-study heterogeneity was significantly attributed to the ethnicity (A vs G, P = 0.013) and the types of granulomatous diseases (A vs G, P = 0.002). By the subgroup meta-analysis, the BTNL2 G16071A gene polymorphism was associated with granulomatous disease susceptibility in Caucasians (A vs G: OR = 1.37, 95% CI = 1.18–1.58, P susceptibility (A vs G: OR = 1.52, 95% CI = 1.39–1.66, P susceptibility (A vs G, FPRP susceptibility among Caucasians (A vs G, FPRP susceptibility, especially increasing the sarcoidosis susceptibility. In addition, the polymorphism may be greatly associated with likelihood of granulomatous diseases among Caucasians. PMID:27472712

Differential expression levels of collagen 1A2, tissue inhibitor of metalloproteinase 4, and cathepsin B in intracranial aneurysms.

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Babu, R Arun; Paul, Pradip; Purushottam, Meera; Srinivas, Dwarakanath; Somanna, Sampath; Jain, Sanjeev

2016-01-01

Intracranial aneurysms (IAs) express a variety of differentially expressed genes when compared to the normal artery. The aim of this study was to evaluate the expression level of a few genes in the aneurysm wall and to correlate them with various clinicoradiological factors. The mRNA level of collagen 1A2 (COL1A2), tissue inhibitor of metalloproteinase 4 (TIMP4), and cathepsin B (CTSB) genes were studied in 23 aneurysmal walls and 19 superficial temporal arteries harvested from 23 patients undergoing clipping of IAs, by real-time polymerase chain reaction method. The mean fold change of COL1A2 gene between the aneurysm sample and the superficial temporal artery (STA) sample was 2.46 ± 0.12, that of TIMP4 gene was 0.31 ± 0, and that of CTSB gene was 31.47 ± 39.01. There was a positive correlation of TIMP4 expression level with maximum diameter of aneurysm (P = 0.008) and fundus of aneurysm (P = 0.012). The mean fold change of CTSB of patients who had preoperative hydrocephalus in the computed tomogram (CT) scan of the head at admission was 56.16 and that of the patients who did not have hydrocephalus was 13.51 (P = 0.008). The mean fold change of CTSB of patients who developed fresh postoperative deficits or worsening of the preexisting deficits was 23.64 and that of the patients who did not develop was 42.22 (P = 0.039). COL1A2 gene and CTSB genes were overexpressed, and TIMP4 gene was underexpressed in the aneurysmal sac compared to STA and their expression levels were associated with a few clinicoradiological factors.

Brain aneurysm repair

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... aneurysm repair; Dissecting aneurysm repair; Endovascular aneurysm repair - brain; Subarachnoid hemorrhage - aneurysm ... Your scalp, skull, and the coverings of the brain are opened. A metal clip is placed at ...

The mechanism of cerebral aneurysmal formation

International Nuclear Information System (INIS)

Yokoi, Toshihiro; Nozaki, Kazuhiko

2010-01-01

Cerebral aneurysm is a disease of poor prognosis and MR- and CT-angiographies are used for its diagnosis and in the preventive therapy of its rupture. Here discussed are formation and growth leading to rupture of the lesion for its advanced diagnosis and prevention of rupturing. Beginning from findings in animal experimentation in mice, rats and monkeys, discussed are pathology of the aneurysm, genes related with its formation, molecular biological approaches concerning apoptosis and NF-kB/TNF-α related inflammatory reactions, participation of sex hormone, clinical hemodynamic analyses based on 3D data from CT and MRI findings, and clinical studies. Authors consider that local hemodynamic stress loading is possibly related to cerebral aneurysm formation as it is yielded at the loading part of the vessel in human and in animal models. The aneurysm is possibly a result of remodeling disturbance by the load and subsequent excessive involution of the artery. In the process, probably included are the inflammation, apoptosis, degradation of extracellular matrix and functional impairment of endotherial cells. Future elucidation of molecular mechanisms underlying the aneurismal growth and rupture will bring about the improved treatment to prevent the disease by stabilizing the aneurismal wall. (T.T.)

Epidemiology, genetic, natural history and clinical presentation of giant cerebral aneurysms.

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Lonjon, M; Pennes, F; Sedat, J; Bataille, B

2015-12-01

Giant cerebral aneurysms represent 5% of intracranial aneurysms, and become symptomatic between 40 and 70 years with a female predominance. In the paediatric population, the giant aneurysm rate is higher than in the adult population. Classified as saccular, fusiform and serpentine, the natural history of giant cerebral aneurysms is characterized by thrombosis, growth and rupture. The pathogenesis of these giant aneurysms is influenced by a number of risk factors, including genetic variables. Genome-wide association studies have identified some chromosomes highlighting candidate genes. Although these giant aneurysms can occur at the same locations as their smaller counterparts, a predilection for the cavernous location has been observed. Giant aneurysms present with symptoms caused by a mass effect depending on their location or by rupture; ischemic manifestations rarely reveal the aneurysm. If the initial clinical descriptions have been back up by imagery, the clinical context with a pertinent analysis of the risk factors remain the cornerstone for the management decisions of these lesions. Five year cumulative rupture rates for patients with giant aneurysm were 40% for those located on the anterior part of circle of Willis and 50% for those on the posterior part. The poor outcome of untreated patients justifies the therapeutic risks. Copyright © 2015. Published by Elsevier Masson SAS.

Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease.

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Neumann, Hartmut P H; Malinoc, Angelica; Bacher, Janina; Nabulsi, Zinaida; Ivanovas, Vera; Bruechle, Nadine Ortiz; Mader, Irina; Hoffmann, Michael M; Riegler, Peter; Kraemer-Guth, Annette; Burchardi, Christian; Schaeffner, Elke; Martin, Rodolfo S; Azurmendi, Pablo J; Zerres, Klaus; Jilg, Cordula; Eng, Charis; Gläsker, Sven

2012-01-01

Patients who harbor intracranial aneurysms (IAs) run a risk for aneurysm rupture and subsequent subarachnoid hemorrhage which frequently results in permanent deficits or death. Prophylactic treatment of unruptured aneurysms is possible and recommended depending on the size and location of the aneurysm as well as patient age and condition. IAs are major manifestations of autosomal dominant polycystic kidney disease (ADPKD). Current guidelines do not suggest surveillance of IAs in ADPKD except in the setting of family history if IA was known in any relative with ADPKD. Management of IAs in ADPKD is problematic because limited data exist from large studies. We established the Else Kröner-Fresenius Registry for ADPKD in Germany. Clinical data were assessed for age at diagnosis of IAs, stage of renal insufficiency, and number, location and size of IAs as well as family history of cerebral events. Patients with symptomatic or asymptomatic IAs were included. All patients with ADPKD-related IAs were offered mutation scanning of the susceptibility genes for ADPKD, the PKD1 and PKD2 genes. Of 463 eligible ADPKD patients from the population base of Germany, 32 (7%) were found to have IAs, diagnosed at the age of 2-71 years, 19 females and 13 males. Twenty (63%) of these 32 patients were symptomatic, whereas IAs were detected in an asymptomatic stage in 12 patients. IAs were multifocal in 12 and unifocal in 20 patients. In 26 patients (81%), IAs were diagnosed before end-stage renal failure. Twenty-five out of 27 unrelated index cases (93%) had no IAs or cerebral events documented in their relatives with ADPKD. In 16 unrelated index patients and 3 relatives, we detected germline mutations. The mutations were randomly distributed across the PKD1 gene in 14 and the PKD2 gene in 2 index cases. Questionnaires answered for 320/441 ADPKD patients without IAs revealed that only 45/320 (14%) had MR angiography. In ADPKD, rupture of IAs occurs frequently before the start of dialysis

Characteristics of Intracranial Aneurysms in the Else Kröner-Fresenius Registry of Autosomal Dominant Polycystic Kidney Disease

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Neumann, Hartmut P.H.; Malinoc, Angelica; Bacher, Janina; Nabulsi, Zinaida; Ivanovas, Vera; Bruechle, Nadine Ortiz; Mader, Irina; Hoffmann, Michael M.; Riegler, Peter; Kraemer-Guth, Annette; Burchardi, Christian; Schaeffner, Elke; Martin, Rodolfo S.; Azurmendi, Pablo J.; Zerres, Klaus; Jilg, Cordula; Eng, Charis; Gläsker, Sven

2012-01-01

Background Patients who harbor intracranial aneurysms (IAs) run a risk for aneurysm rupture and subsequent subarachnoid hemorrhage which frequently results in permanent deficits or death. Prophylactic treatment of unruptured aneurysms is possible and recommended depending on the size and location of the aneurysm as well as patient age and condition. IAs are major manifestations of autosomal dominant polycystic kidney disease (ADPKD). Current guidelines do not suggest surveillance of IAs in ADPKD except in the setting of family history if IA was known in any relative with ADPKD. Management of IAs in ADPKD is problematic because limited data exist from large studies. Methods We established the Else Kröner-Fresenius Registry for ADPKD in Germany. Clinical data were assessed for age at diagnosis of IAs, stage of renal insufficiency, and number, location and size of IAs as well as family history of cerebral events. Patients with symptomatic or asymptomatic IAs were included. All patients with ADPKD-related IAs were offered mutation scanning of the susceptibility genes for ADPKD, the PKD1 and PKD2 genes. Results Of 463 eligible ADPKD patients from the population base of Germany, 32 (7%) were found to have IAs, diagnosed at the age of 2–71 years, 19 females and 13 males. Twenty (63%) of these 32 patients were symptomatic, whereas IAs were detected in an asymptomatic stage in 12 patients. IAs were multifocal in 12 and unifocal in 20 patients. In 26 patients (81%), IAs were diagnosed before end-stage renal failure. Twenty-five out of 27 unrelated index cases (93%) had no IAs or cerebral events documented in their relatives with ADPKD. In 16 unrelated index patients and 3 relatives, we detected germline mutations. The mutations were randomly distributed across the PKD1 gene in 14 and the PKD2 gene in 2 index cases. Questionnaires answered for 320/441 ADPKD patients without IAs revealed that only 45/320 (14%) had MR angiography. Conclusion In ADPKD, rupture of IAs occurs

Characteristics of Intracranial Aneurysms in the Else Kröner-Fresenius Registry of Autosomal Dominant Polycystic Kidney Disease

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Hartmut P.H. Neumann

2012-10-01

Full Text Available Background: Patients who harbor intracranial aneurysms (IAs run a risk for aneurysm rupture and subsequent subarachnoid hemorrhage which frequently results in permanent deficits or death. Prophylactic treatment of unruptured aneurysms is possible and recommended depending on the size and location of the aneurysm as well as patient age and condition. IAs are major manifestations of autosomal dominant polycystic kidney disease (ADPKD. Current guidelines do not suggest surveillance of IAs in ADPKD except in the setting of family history if IA was known in any relative with ADPKD. Management of IAs in ADPKD is problematic because limited data exist from large studies. Methods: We established the Else Kröner-Fresenius Registry for ADPKD in Germany. Clinical data were assessed for age at diagnosis of IAs, stage of renal insufficiency, and number, location and size of IAs as well as family history of cerebral events. Patients with symptomatic or asymptomatic IAs were included. All patients with ADPKD-related IAs were offered mutation scanning of the susceptibility genes for ADPKD, the PKD1 and PKD2 genes. Results: Of 463 eligible ADPKD patients from the population base of Germany, 32 (7% were found to have IAs, diagnosed at the age of 2–71 years, 19 females and 13 males. Twenty (63% of these 32 patients were symptomatic, whereas IAs were detected in an asymptomatic stage in 12 patients. IAs were multifocal in 12 and unifocal in 20 patients. In 26 patients (81%, IAs were diagnosed before end-stage renal failure. Twenty-five out of 27 unrelated index cases (93% had no IAs or cerebral events documented in their relatives with ADPKD. In 16 unrelated index patients and 3 relatives, we detected germline mutations. The mutations were randomly distributed across the PKD1 gene in 14 and the PKD2 gene in 2 index cases. Questionnaires answered for 320/441 ADPKD patients without IAs revealed that only 45/320 (14% had MR angiography. Conclusion: In ADPKD

Mitral endocarditis due to Rothia aeria with cerebral haemorrhage and femoral mycotic aneurysms, first French description

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R. Collarino

2016-09-01

Full Text Available Rothia aeria is a Rothia species from the Micrococcaceae family. We report here the first French R. aeria endocarditis complicated by brain haemorrhage and femoral mycotic aneurysms. Altogether, severity and antimicrobial susceptibility should make us consider the management of R. aeria endocarditis as Staphylococcus aureus methicillin-susceptible endocarditis.

Association of functional MMP-2 gene variant with intracranial aneurysms: case-control genetic association study and meta-analysis.

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Alg, Varinder S; Ke, Xiayi; Grieve, Joan; Bonner, Stephen; Walsh, Daniel C; Bulters, Diederik; Kitchen, Neil; Houlden, Henry; Werring, David J

2018-01-15

Abnormalities in Matrix Metalloproteinase (MMP) genes, which are important in extracellular matrix (ECM) maintenance and therefore arterial wall integrity are a plausible underlying mechanism of intracranial aneurysm (IA) formation, growth and subsequent rupture. We investigated whether the rs243865 C > T SNP (single nucleotide polymorphism) within the MMP-2 gene (which influences gene transcription) is associated with IA compared to matched controls. We conducted a case-control genetic association study, adjusted for known IA risk factors (smoking and hypertension), in a UK Caucasian population of 1409 patients with intracranial aneurysms (IA), and 1290 matched controls, to determine the association of the rs243865 C > T functional MMP-2 gene SNP with IA (overall, and classified as ruptured and unruptured). We also undertook a meta-analysis of two previous studies examining this SNP. The rs243865 T allele was associated with IA presence in univariate (OR 1.18 [95% CI 1.04-1.33], p = .01) and in multi-variable analyses adjusted for smoking and hypertension status (OR 1.16 [95% CI 1.01-1.35], p = .042). Subgroup analysis demonstrated an association of the rs243865 SNP with ruptured IA (OR 1.18 [95% CI 1.03-1.34] p = .017), but, not unruptured IA (OR 1.17 [95% CI 0.97-1.42], p = .11). Our study demonstrated an association between the functional MMP-2 rs243865 variant and IAs. Our findings suggest a genetic role for altered extracellular matrix integrity in the pathogenesis of IA development and rupture.

The intracranial aneurysm: cost-effective of the aneurysm intra-artery GDC embolization and the aneurysm incarcerated operation

International Nuclear Information System (INIS)

Pan Jie; Zhang Shizheng

2008-01-01

Objective: To evaluate the cost-effectiveness of the aneurysm intra-artery GDC embolization and the aneurysm clapping of intracranial aneurysm, and to give the instruction for the clinical practice. Methods: A case control study (1 vs. 1) was developed to evaluate the cost in hospital, the cost for return visit and the Quality-adusted Life-Year (QALY) and lifetime costs of the intra-artery GDC embolization and the aneurysm clapping of intraeranial aneurysm, under the matching of the age, sex, living place, the size and place of the aneurysm, and the Hunt and Hess score. Clinically effectiveness dates were derived from the medical records. Cost dates were derived from follow-up by telephones or letters. The correlation analysis was done with the SPSS 13.0. Results: The cost in hospital in AC group was (54 945±16 946)RMBs, which was higher than the ones in AE group (63 768±12 665) RMBs, (t=1.71, P 0.05). Conclusion: The results suggest that the two therapies have no difference in cost effective rate. Considering the physical and mental loss, the aneurysm intra-arteu GDC embolization was better than the aneurysm clapping for the patients with aneurysm that diameter less than 25 mm. (authors)

Brain Aneurysm

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A brain aneurysm is an abnormal bulge or "ballooning" in the wall of an artery in the brain. They are sometimes called berry aneurysms because they ... often the size of a small berry. Most brain aneurysms produce no symptoms until they become large, ...

Fluid-structure interaction modeling of aneurysmal arteries under steady-state and pulsatile blood flow: a stability analysis.

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Sharzehee, Mohammadali; Khalafvand, Seyed Saeid; Han, Hai-Chao

2018-02-01

Tortuous aneurysmal arteries are often associated with a higher risk of rupture but the mechanism remains unclear. The goal of this study was to analyze the buckling and post-buckling behaviors of aneurysmal arteries under pulsatile flow. To accomplish this goal, we analyzed the buckling behavior of model carotid and abdominal aorta with aneurysms by utilizing fluid-structure interaction (FSI) method with realistic waveforms boundary conditions. FSI simulations were done under steady-state and pulsatile flow for normal (1.5) and reduced (1.3) axial stretch ratios to investigate the influence of aneurysm, pulsatile lumen pressure and axial tension on stability. Our results indicated that aneurysmal artery buckled at the critical buckling pressure and its deflection nonlinearly increased with increasing lumen pressure. Buckling elevates the peak stress (up to 118%). The maximum aneurysm wall stress at pulsatile FSI flow was (29%) higher than under static pressure at the peak lumen pressure of 130 mmHg. Buckling results show an increase in lumen shear stress at the inner side of the maximum deflection. Vortex flow was dramatically enlarged with increasing lumen pressure and artery diameter. Aneurysmal arteries are more susceptible than normal arteries to mechanical instability which causes high stresses in the aneurysm wall that could lead to aneurysm rupture.

Genetic study of intracranial aneurysms.

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Yan, Junxia; Hitomi, Toshiaki; Takenaka, Katsunobu; Kato, Masayasu; Kobayashi, Hatasu; Okuda, Hiroko; Harada, Kouji H; Koizumi, Akio

2015-03-01

Rupture of intracranial aneurysms (IAs) causes subarachnoid hemorrhage, leading to immediate death or severe disability. Identification of the genetic factors involved is critical for disease prevention and treatment. We aimed to identify the susceptibility genes for IAs. Exome sequencing was performed in 12 families with histories of multiple cases of IA (number of cases per family ≥3), with a total of 42 cases. Various filtering strategies were used to select the candidate variants. Replicate association studies of several candidate variants were performed in probands of 24 additional IA families and 426 sporadic IA cases. Functional analysis for the mutations was conducted. After sequencing and filtering, 78 variants were selected for the following reasons: allele frequencies of variants in 42 patients was significantly (PIA within ≥1 family; variants predicted damage to the structure or function of the protein by PolyPhen-2 (Polymorphism Phenotyping V2) and SIFT (Sorting Intolerance From Tolerant). We selected 10 variants from 9 genes (GPR63, ADAMST15, MLL2, IL10RA, PAFAH2, THBD, IL11RA, FILIP1L, and ZNF222) to form 78 candidate variants by considering commonness in families, known disease genes, or ontology association with angiogenesis. Replicate association studies revealed that only p.E133Q in ADAMTS15 was aggregated in the familial IA cases (odds ratio, 5.96; 95% confidence interval, 2.40-14.82; P=0.0001; significant after the Bonferroni correction [P=0.05/78=0.0006]). Silencing ADAMTS15 and overexpression of ADAMTS15 p.E133Q accelerated endothelial cell migration, suggesting that ADAMTS15 may have antiangiogenic activity. ADAMTS15 is a candidate gene for IAs. © 2015 American Heart Association, Inc.

Roles of Breast Cancer Susceptibility Genes BRCA’s in Mammary Epithelial Cell Differentiation

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2006-03-01

FANCA . Hum. Mol. Genet. 11, 2591-2597 (2002). 13. Tessari, M.A. et al. Transcriptional activation of the cyclin A gene by the architectural...caretakercancer susceptibility gene FANCA (24), as well several IFN- or caspase- associated proteins, were down-regulated. Concomitantly, in these cells...a mammary differentiation factor STAT5B and a caretaker cancer susceptibility gene FANCA were down-regulated. Nev- ertheless, it has yet to be

Aneurysm Recurrence Volumetry Is More Sensitive than Visual Evaluation of Aneurysm Recurrences.

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Schönfeld, M H; Schlotfeldt, V; Forkert, N D; Goebell, E; Groth, M; Vettorazzi, E; Cho, Y D; Han, M H; Kang, H-S; Fiehler, J

2016-03-01

Considerable inter-observer variability in the visual assessment of aneurysm recurrences limits its use as an outcome parameter evaluating new coil generations. The purpose of this study was to compare visual assessment of aneurysm recurrences and aneurysm recurrence volumetry with an example dataset of HydroSoft coils (HSC) versus bare platinum coils (BPC). For this retrospective study, 3-dimensional time-of-flight magnetic resonance angiography datasets acquired 6 and 12 months after endovascular therapy using BPC only or mainly HSC were analyzed. Aneurysm recurrence volumes were visually rated by two observersas well as quantified by subtraction of the datasets after intensity-based rigid registration. A total of 297 aneurysms were analyzed (BPC: 169, HSC: 128). Recurrences were detected by aneurysm recurrence volumetry in 9 of 128 (7.0 %) treated with HSC and in 24 of 169 (14.2 %) treated with BPC (odds ratio: 2.39, 95 % confidence interval: 1.05-5.48; P = 0.039). Aneurysm recurrence volumetry revealed an excellent correlation between observers (Cronbach's alpha = 0.93). In contrast, no significant difference in aneurysm recurrence was found for visual assessment (3.9 % in HSC cases and 4.7 % in BPC cases). Recurrences were observed in aneurysms smaller than the sample median in 10 of 33 (30.3 %) by aneurysm recurrence volumetry and in 1 of 13 (7.7 %) by visual assessment. Aneurysm recurrences were detected more frequently by aneurysm recurrence volumetry when compared with visual assessment. By using aneurysm recurrence volumetry, differences between treatment groups were detected with higher sensitivity and inter-observer validity probably because of the higher detection rate of recurrences in small aneurysms.

Aneurysmal wall enhancement and perianeurysmal edema after endovascular treatment of unruptured cerebral aneurysms

International Nuclear Information System (INIS)

Su, I. Chang; Willinsky, Robert A.; Agid, Ronit; Fanning, Noel F.

2014-01-01

Perianeurysmal edema and aneurysm wall enhancement are previously described phenomenon after coil embolization attributed to inflammatory reaction. We aimed to demonstrate the prevalence and natural course of these phenomena in unruptured aneurysms after endovascular treatment and to identify factors that contributed to their development. We performed a retrospective analysis of consecutively treated unruptured aneurysms between January 2000 and December 2011. The presence and evolution of wall enhancement and perianeurysmal edema on MRI after endovascular treatment were analyzed. Variable factors were compared among aneurysms with and without edema. One hundred thirty-two unruptured aneurysms in 124 patients underwent endovascular treatment. Eighty-five (64.4 %) aneurysms had wall enhancement, and 9 (6.8 %) aneurysms had perianeurysmal brain edema. Wall enhancement tends to persist for years with two patterns identified. Larger aneurysms and brain-embedded aneurysms were significantly associated with wall enhancement. In all edema cases, the aneurysms were embedded within the brain and had wall enhancement. Progressive thickening of wall enhancement was significantly associated with edema. Edema can be symptomatic when in eloquent brain and stabilizes or resolves over the years. Our study demonstrates the prevalence and some appreciation of the natural history of aneurysmal wall enhancement and perianeurysmal brain edema following endovascular treatment of unruptured aneurysms. Aneurysmal wall enhancement is a common phenomenon while perianeurysmal edema is rare. These phenomena are likely related to the presence of inflammatory reaction near the aneurysmal wall. Both phenomena are usually asymptomatic and self-limited, and prophylactic treatment is not recommended. (orig.)

Polymorphisms of the MMP-9 gene and abdominal aortic aneurysm

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Smallwood, Linda; Allcock, Richard; van Bockxmeer, Frank; Warrington, Nicole; Palmer, Lyle J; Iacopetta, Barry; Golledge, Jonathan; Norman, Paul E

2008-01-01

Background Increased matrix metalloproteinase-9 (MMP-9) activity has been implicated in the formation of abdominal aortic aneurysms (AAAs). The aim of the present study was to explore the association between potentially functional variants of the MMP-9 gene and AAA. Method The −1562C>T and −1811A>T variants of the MMP-9 gene were genotyped in 678 men with AAAs (>30mm in diameter) and 659 controls (aortic diameter 19−22mm) recruited from a population-based trial of screening for AAAs. The levels of MMP-9 were measured in a random subset of 300 cases and 84 controls. The association between genetic variants (including haplotypes) and AAA was assessed using multivariate logistic regression. Results There was no association between the MMP-9 −1562C>T (OR 0.70 95%CI 0.27, 1.82) or −1811A>T (OR 0.71, 95%CI 0.28, 1.85) genotypes, or the most common haplotype (OR 0.81 95%CI 0.62, 1.05), and AAA. The serum MMP-9 concentration (ng/mL) was higher in cases than controls and in minor allele carriers in cases and controls although the differences were not statistically significant. Conclusion The results suggest that a genetic tendency to have higher levels of circulating MMP-9 is not associated with AAAs. PMID:18763261

Coronary artery aneurysms

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Koischwitz, D.; Harder, T.; Schuppan, U.; Thurn, P.

1982-04-01

Seven saccular coronary artery aneurysms have been demonstrated in the course of 1452 selective coronary artery angiograms. In six patients they were arterio-sclerotic; in one patient the aneurysm must have been congenital or of mycotic-embolic origin. The differential diagnosis between true aneurysms and other causes of vascular dilatation is discussed. Coronary artery aneurysms have a poor prognosis because of the possibility of rupture with resultant cardiac tamponade, or the development of thrombo-embolic myocardial infarction. These aneurysms can only be diagnosed by means of coronary angiography and require appropriate treatment.

Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes

Science.gov (United States)

2013-03-14

behavioral teaching strategies and best practice for teaching students with autism spectrum disorders 4.52 Learn strategies for incorporating IEP goals...AFRL-SA-WP-TR-2013-0013 Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes...Genetic Mapping for the Discovery of Autism Susceptibility Genes 5a. CONTRACT NUMBER N/A 5b. GRANT NUMBER N/A 5c. PROGRAM ELEMENT NUMBER N/A 6

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

DEFF Research Database (Denmark)

Gretarsdottir, Solveig; Baas, Annette F; Thorleifsson, Gudmar

2010-01-01

to associate with AAA, with an odds ratio (OR) of 1.21 and P = 4.6 x 10(-10). In tests for association with other vascular diseases, we found that rs7025486[A] is associated with early onset myocardial infarction (OR = 1.18, P = 3.1 x 10(-5)), peripheral arterial disease (OR = 1.14, P = 3.9 x 10......(-5)) and pulmonary embolism (OR = 1.20, P = 0.00030), but not with intracranial aneurysm or ischemic stroke. No association was observed between rs7025486[A] and common risk factors for arterial and venous diseases-that is, smoking, lipid levels, obesity, type 2 diabetes and hypertension. Rs7025486 is located within...

Microsurgical treatment of carotid-ophthalmic aneurysm associated with multiple anterior and posterior circulation aneurysms

Science.gov (United States)

Wang, Jiantao; Kan, Zhisheng; Wang, Shuo

2017-01-01

Abstract Background: The clipping of multiple intracranial aneurysms in 1 stage is uncommon. In this case, we report clipping of an ophthalmic aneurysm associated with multiple anterior and posterior circulation aneurysms via the Dolenc approach. Methods: The main symptoms of the patient are headache, along with nausea and vomiting. The patient's arteriogram revealed a wide-necked aneurysm of the right ophthalmic artery, an irregular aneurysm of the anterior communicating artery, and a basilar artery aneurysm. The surgical intervention for these aneurysms is a challenge because of the complex anatomical relationship with the surrounding structures. The 3 aneurysms, which were not amenable to a single intervention, were successfully clipped in 1 incision. Results: After surgery, the patient reported feeling well. One year after surgery, the patient had no SAH recurrence. Conclusions: Occasionally, surgical treatment was used even for aneurysms of the carotid-ophthalmic artery with aneurysms of anterior communicating artery and basilar artery, which are contraindicated for interventional therapy. PMID:28422878

[Relationship between interleukin-17A gene polymorphisms and the susceptibility to childhood asthma].

Science.gov (United States)

Zhong, Fang-Fang; Zou, Yan; Liu, Chun-Yan; Liu, Wen-Jun

2016-12-01

To explore the relationship between polymorphisms of interleukin-17A (IL-17A) gene promoter (-197G/A and -692C/T) and the susceptibility to childhood asthma, to further identify the candidate genes for asthma, and to provide a basis for early prevention of asthma in high-risk children. Sixty-five outpatients or inpatients with childhood asthma between August 2013 and August 2015 were assigned to asthma group. Seventy healthy children within the same period were assigned to control group. Using peripheral venous blood from the two groups, PCR with sequence-specific primers was carried out to determine single nucleotide polymorphisms at positions -197G/A and -692C/T in IL-17A gene promoter. A statistical analysis was used to evaluate differences in genotype and allele frequencies between the two groups. Compared with the control group, the asthma group had significantly higher frequencies of TT genotype (29% vs 16%; P=0.012) and T allele (52% vs 42%; P=0.039) at position -692C/T of IL-17A gene. Children with T allele had 1.413-fold higher risk of childhood asthma than those with C allele (OR=1.413, 95%CI: 1.015-1.917). There were no significant differences in genotype and allele frequencies at position -197G/A in IL-17A gene between the two groups (p>0.05). Polymorphisms at position -692C/T in IL-17A gene promoter is associated with the susceptibility to childhood asthma. Children with -692T allele are more susceptible to childhood asthma. There is no significant relationship between polymorphisms at position -197G/A in IL-17A gene promoter and the susceptibility to childhood asthma.

Flow and wall shear stress characterization following endovascular aneurysm repair and endovascular aneurysm sealing in an infrarenal aneurysm model

NARCIS (Netherlands)

Boersen, Johannes T.; Groot Jebbink, Erik; Versluis, Michel; Slump, Cornelis H.; Ku, David N.; de Vries, Jean-Paul P.M.; Reijnen, Michel M.P.J.

2017-01-01

Background Endovascular aneurysm repair (EVAR) with a modular endograft has become the preferred treatment for abdominal aortic aneurysms. A novel concept is endovascular aneurysm sealing (EVAS), consisting of dual endoframes surrounded by polymer-filled endobags. This dual-lumen configuration is

Establishment of a new murine elastase-induced aneurysm model combined with transplantation.

Directory of Open Access Journals (Sweden)

Zuzanna Rowinska

Full Text Available The aim of our study was to develop a reproducible murine model of elastase-induced aneurysm formation combined with aortic transplantation.Adult male mice (n = 6-9 per group underwent infrarenal, orthotopic transplantation of the aorta treated with elastase or left untreated. Subsequently, both groups of mice were monitored by ultrasound until 7 weeks after grafting.Mice receiving an elastase-pretreated aorta developed aneurysms and exhibited a significantly increased diastolic vessel diameter compared to control grafted mice at 7 week after surgery (1.11 ± 0.10 mm vs. 0.75 ± 0.03 mm; p ≤ 0,001. Histopathological examination revealed disruption of medial elastin, an increase in collagen content and smooth muscle cells, and neointima formation in aneurysm grafts.We developed a reproducible murine model of elastase-induced aneurysm combined with aortic transplantation. This model may be suitable to investigate aneurysm-specific inflammatory processes and for use in gene-targeted animals.

Identification of Variants in Breast Cancer Susceptibility Genes and Determination of Functional and Clinical Significance of Novel Mutations

Science.gov (United States)

2014-10-01

to cause other cancer susceptibility (CDKN2A, MLH1, MSH2, MSH6, PMS2 ); 3) genes known or postulated to be moderate penetrance cancer susceptibility...susceptibility (CDKN2A, MLH1, MSH2, MSH6, PMS2 ); 3) genes known or postulated to be moderate penetrance cancer susceptibility genes (ATM, BARD1, BRIP1...three patients in TP53 and 12 patients in MLH1, MSH2, MSH6, or PMS2 ; no VUSs were found in CDH1, CDKN2A, STK11 or PTEN. Three additional patients each

Advantages in imaging results with titanium aneurysm clips (TiAl6V4)

International Nuclear Information System (INIS)

Piepgras, A.; Gueckel, F.; Weik, T.; Schmiedek, P.

1995-01-01

Aneurysm clips made of a titanium alloy (TiAl6V4) were used in clinical practice for the first time. The design of the clips is identical to the routinely used Yasargil series. In 30 patients, 38 symptomatic and asymptomatic aneurysms were fixed with 45 clips. Metallurgical advantages of the new alloy are better biocompatibility, less magnetic susceptibility, and lower X-ray density. The postoperative imaging results are superior to the conventionally used alloys with respect to artifact reduction in computed tomography, angiography, and magnetic resonance imaging. With a follow-up period of 7 months, a statement on biocompatibility cannot yet be given. (orig.) [de

Genetic association study identifies a functional CNV in the WWOX gene contributes to the risk of intracranial aneurysms.

Science.gov (United States)

Fan, Jin; Sun, Wen; Lin, Min; Yu, Ke; Wang, Jian; Duan, Dan; Zheng, Bo; Yang, Zhenghui; Wang, Qingsong

2016-03-29

Intracranial aneurysms (IAs) accounts for 85% of hemorrhagic stroke. Genetic factors have been known to play an important role in the development of IAs. A functional CNV (CNV-67048) of human WW domain-containing oxidoreductase (WWOX), which has been identified as a tumor suppressor gene in multiple cancers, was identified to be associated with gliomas risk previously. Here, we hypothesized that the CNV-67048 could also affect susceptibility of IAs. Based on a two-stage, case- control study with a total of 976 patients of IAs and 1,200 matched healthy controls, we found the effect size for per copy deletion was 1.35 (95% CI = 1.16-1.57; Ptrend = 1.18 × 10-4). Compared with the individuals having no deletion, significantly higher risk of IAs was detected for both subjects carrying 1 copy deletion (OR = 1.24, 95% CI = 1.02-1.52) and subjects carrying 2 copy deletion (OR = 1.77, 95% CI = 1.24-2.53). Real-time PCR was used to confirm the abnormal expression of WWOX in tissues of IA patients and influence of genotypes of CNV-67048. The expression level of WWOX in IA tissues was significantly lower than that in corresponding normal tissues (P = 0.004), and the deletion genotypes of CNV-67048 have lower WWOX mRNA levels in both tumor tissues and border tissues (P 48 in WWOX predispose their carriers to IAs, which might be a genetic biomarker to predict risk of IAs in Chinese.

Infected aortic aneurysm and inflammatory aortic aneurysm. In search of an optimal differential diagnosis

International Nuclear Information System (INIS)

Ishizaka, Nobukazu; Sohmiya, Koichi; Miyamura, Masatoshi; Umeda, Tatsuya; Tsuji, Motomu; Katsumata, Takahiro; Miyata, Tetsuro

2012-01-01

Infected aortic aneurysm and inflammatory aortic aneurysm each account for a minor fraction of the total incidence of aortic aneurysm and are associated with periaortic inflammation. Despite the similarity, infected aortic aneurysm generally shows a more rapid change in clinical condition, leading to a fatal outcome; in addition, delayed diagnosis and misuse of corticosteroid or immunosuppressing drugs may lead to uncontrolled growth of microorganisms. Therefore, it is mandatory that detection of aortic aneurysm is followed by accurate differential diagnosis. In general, infected aortic aneurysm appears usually as a saccular form aneurysm with nodularity, irregular configuration; however, the differential diagnosis may not be easy sometimes for the following reasons: symptoms, such as abdominal and/or back pain and fever, and blood test abnormalities, such as elevated C-reactive protein and enhanced erythrocyte sedimentation rate, are common in infected aortic aneurysm, but they are not found infrequently in inflammatory aortic aneurysm; some inflammatory aortic aneurysms are immunoglobulin (Ig) G4-related, but not all of them; the prevalence of IgG4 positivity in infected aortic aneurysm has not been well investigated; enhanced uptake of 18F-fluorodeoxyglucose (FDG) by 18F-FDG-positron emission tomography may not distinguish between inflammation mediated by autoimmunity and that mediated by microorganism infection. Here we discuss the characteristics of these two forms of aortic aneurysm and the points of which we have to be aware before reaching a final diagnosis. (author)

Gene susceptibility in Iranian asthmatic patients: a narrative review ...

African Journals Online (AJOL)

As environmental factors are important in the development of asthma, genetic factors could have a critical role in the expression of the disease. Hence, we carried out a systematic review to assess the susceptible genes for asthma in Iranian population. We conducted a literature search by using the electronic database ...

Polymorphisms of the matrix metalloproteinase 9 gene and abdominal aortic aneurysm.

Science.gov (United States)

Smallwood, L; Allcock, R; van Bockxmeer, F; Warrington, N; Palmer, L J; Iacopetta, B; Golledge, J; Norman, P E

2008-10-01

Increased matrix metalloproteinase (MMP) 9 activity has been implicated in the formation of abdominal aortic aneurysm (AAA). The aim was to explore the association between potentially functional variants of the MMP-9 gene and AAA. The -1562C > T and -1811A > T variants of the MMP-9 gene were genotyped in 678 men with an AAA (at least 30 mm in diameter) and 659 control subjects (aortic diameter 19-22 mm) recruited from a population-based trial of screening for AAA. Levels of MMP-9 were measured in a random subset of 300 cases and 84 controls. The association between genetic variants (including haplotypes) and AAA was assessed by multivariable logistic regression. There was no association between the MMP-9-1562C > T (odds ratio (OR) 0.70 (95 per cent confidence interval (c.i.) 0.27 to 1.82)) or -1811A > T (OR 0.71 (95 per cent c.i. 0.28 to 1.85)) genotypes, or the most common haplotype (OR 0.81 (95 per cent c.i. 0.62 to 1.05)) and AAA. The serum MMP-9 concentration was higher in cases than controls, and in minor allele carriers in cases and controls, although the differences were not statistically significant. In this study, the genetic tendency to higher levels of circulating MMP-9 was not associated with AAA.

Correlation of HAMP gene polymorphisms and expression with the susceptibility and length of hospital stays in Taiwanese children with Kawasaki disease

Science.gov (United States)

Lu, Hsing-Fang; Wong, Henry Sung-Ching; Yu, Hong-Ren; Kuo, Hsing-Chun; Huang, Fu-Chen; Lo, Mao-Hung; Hsieh, Kai-Sheng; Chen, Su-Fen; Chang, Wei-Chiao; Kuo, Ho-Chang

2017-01-01

Kawasaki disease (KD) is a form of systemic vasculitis. Regarding its pathogenesis, HAMP gene encoding hepcidin, which is significant for iron metabolism, has a vital function. In this study, we recruited a total of 381 KD patients for genotyping. Data from 997 subjects (500 subjects from cohort 1; 497 subjects from cohort 2) were used for analysis. Using TaqMan allelic discrimination, we determined five tag SNPs (rs916145, rs10421768, rs3817623, rs7251432, and rs2293689). Treatment outcome data related to such clinical phenotypes as coronary artery lesions (CAL), coronary artery aneurysms (CAA), and intravenous immunoglobulin (IVIG) effects were also collected. Furthermore, we measured plasma hepcidin levels with an enzyme-linked immunosorbent assay. We found that HAMP gene polymorphism (rs7251432, and rs2293689) was significantly correlated with KD risk and that plasma hepcidin levels both before and after IVIG treatment had a significantly positive correlation with length of hospital stays (R = 0.217, p = 0.046 and R = 0.381, p < 0.0001, respectively). In contrast, plasma hepcidin levels has a negative correlation with KD patients’ albumin levels (R = −0.27, p < 0.001) prior to IVIG treatment. This study's findings indicate that HAMP might have a role in the disease susceptibility, as well as its expressions correlated length of hospital stays, and albumin levels in Taiwanese children with KD. PMID:28881695

Microsurgical clipping of ophthalmic artery aneurysms: surgical results and visual outcomes with 208 aneurysms.

Science.gov (United States)

Kamide, Tomoya; Tabani, Halima; Safaee, Michael M; Burkhardt, Jan-Karl; Lawton, Michael T

2018-01-26

OBJECTIVE While most paraclinoid aneurysms can be clipped with excellent results, new postoperative visual deficits are a concern. New technology, including flow diverters, has increased the popularity of endovascular therapy. However, endovascular treatment of paraclinoid aneurysms is not without procedural risks, is associated with higher rates of incomplete aneurysm occlusion and recurrence, and may not address optic nerve compression symptoms that surgical debulking can. The increasing endovascular management of paraclinoid aneurysms should be justified by comparisons to surgical benchmarks. The authors, therefore, undertook this study to define patient, visual, and aneurysm outcomes in the most common type of paraclinoid aneurysm: ophthalmic artery (OphA) aneurysms. METHODS Results from microsurgical clipping of 208 OphA aneurysms in 198 patients were retrospectively reviewed. Patient demographics, aneurysm morphology (size, calcification, etc.), clinical characteristics, and patient outcomes were recorded and analyzed. RESULTS Despite 20% of these aneurysms being large or giant in size, complete aneurysm occlusion was accomplished in 91% of 208 cases, with OphA patency preserved in 99.5%. The aneurysm recurrence rate was 3.1% and the retreatment rate was 0%. Good outcomes (modified Rankin Scale score 0-2) were observed in 96.2% of patients overall and in all 156 patients with unruptured aneurysms. New visual field defects (hemianopsia or quadrantanopsia) were observed in 8 patients (3.8%), decreased visual acuity in 5 (2.4%), and monocular blindness in 9 (4.3%). Vision improved in 9 (52.9%) of the 17 patients with preoperative visual deficits. CONCLUSIONS The most important risk associated with clipping OphA aneurysms is a new visual deficit. Meticulous microsurgical technique is necessary during anterior clinoidectomy, aneurysm dissection, and clip application to optimize visual outcomes, and aggressive medical management postoperatively might potentially

Gene-environment interaction involving recently identified colorectal cancer susceptibility loci

Science.gov (United States)

Kantor, Elizabeth D.; Hutter, Carolyn M.; Minnier, Jessica; Berndt, Sonja I.; Brenner, Hermann; Caan, Bette J.; Campbell, Peter T.; Carlson, Christopher S.; Casey, Graham; Chan, Andrew T.; Chang-Claude, Jenny; Chanock, Stephen J.; Cotterchio, Michelle; Du, Mengmeng; Duggan, David; Fuchs, Charles S.; Giovannucci, Edward L.; Gong, Jian; Harrison, Tabitha A.; Hayes, Richard B.; Henderson, Brian E.; Hoffmeister, Michael; Hopper, John L.; Jenkins, Mark A.; Jiao, Shuo; Kolonel, Laurence N.; Le Marchand, Loic; Lemire, Mathieu; Ma, Jing; Newcomb, Polly A.; Ochs-Balcom, Heather M.; Pflugeisen, Bethann M.; Potter, John D.; Rudolph, Anja; Schoen, Robert E.; Seminara, Daniela; Slattery, Martha L.; Stelling, Deanna L.; Thomas, Fridtjof; Thornquist, Mark; Ulrich, Cornelia M.; Warnick, Greg S.; Zanke, Brent W.; Peters, Ulrike; Hsu, Li; White, Emily

2014-01-01

BACKGROUND Genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) that are associated with risk of colorectal cancer (CRC). Prior research has evaluated the presence of gene-environment interaction involving the first 10 identified susceptibility loci, but little work has been conducted on interaction involving SNPs at recently identified susceptibility loci, including: rs10911251, rs6691170, rs6687758, rs11903757, rs10936599, rs647161, rs1321311, rs719725, rs1665650, rs3824999, rs7136702, rs11169552, rs59336, rs3217810, rs4925386, and rs2423279. METHODS Data on 9160 cases and 9280 controls from the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) and Colon Cancer Family Registry (CCFR) were used to evaluate the presence of interaction involving the above-listed SNPs and sex, body mass index (BMI), alcohol consumption, smoking, aspirin use, post-menopausal hormone (PMH) use, as well as intake of dietary calcium, dietary fiber, dietary folate, red meat, processed meat, fruit, and vegetables. Interaction was evaluated using a fixed-effects meta-analysis of an efficient Empirical Bayes estimator, and permutation was used to account for multiple comparisons. RESULTS None of the permutation-adjusted p-values reached statistical significance. CONCLUSIONS The associations between recently identified genetic susceptibility loci and CRC are not strongly modified by sex, BMI, alcohol, smoking, aspirin, PMH use, and various dietary factors. IMPACT Results suggest no evidence of strong gene-environment interactions involving the recently identified 16 susceptibility loci for CRC taken one at a time. PMID:24994789

Aneurysm in the brain

Science.gov (United States)

... gov/ency/article/001414.htm Aneurysm in the brain To use the sharing features on this page, ... aneurysm occurs in a blood vessel of the brain, it is called a cerebral, or intracranial, aneurysm. ...

Hepatic artery aneurysms (HAAs)

International Nuclear Information System (INIS)

Nosratini, H.

2004-01-01

The hepatic artery aneurysms are rare, especially in interahepatic branches, The frequency consists of 75-80% extrahepatic and 20-25% intrahepatic. Catheterization is achieved usually from common femoral artery, other methods implemented in the case of unsuccessful catheterization from femoral artery, are translumbar and brachial catheterization. The study consist of 565 patients that were referred to the angiography ward, During seven years of assessment, five cases of hepatic artery aneurysm were found; this is a rare condition reported in the English literature. In the literature as well as in this case report the hepatic artery aneurysms are rare. In reported series the extrahepatic artery aneurysms are found more often than in the intrahepatic artery aneurysm but in this case report intrahepatic artery aneurysms are more than extrahepatic one. (author)

Infected aortic aneurysm presenting as prevertebral abscess in magnetic resonance imaging: A case report

International Nuclear Information System (INIS)

Yu, Jung Re; Ko, Seong Joo; Heo, Sang Taek; Kim, Jin Seok; Kim, Seung Hyoung

2013-01-01

The differential diagnosis of mass-like lesions around the aorta includes saccular pseudoaneurysms and abscesses. A 69-year-old female was admitted with multiple abscesses and fluid collections in several muscles and joints. Methicillin susceptible Staphylococcus aureus was isolated from her blood and pus. Even though she was treated with repeated operations and appropriate antibiotics, her conditions worsened with persistent fever and newly developed abscesses at other sites. Serial enhanced computed tomography (CT) revealed a newly developed saccular abdominal aortic aneurysm in the retroaortic space at the celiac axis level. However, the infected aortic aneurysm mimicked a prevertebral abscess on enhanced spinal magnetic resonance imaging (MRI) due to its heterogeneous signal intensity caused by intraaneurysmal turbulent blood flow. We report to alert the pitfall in the diagnosis of saccular aortic aneurysm using spinal MRI and the importance of serial enhanced CT study in highly suspicious patients.

Disease susceptibility genes shared by primary biliary cirrhosis and Crohn's disease in the Japanese population.

Science.gov (United States)

Aiba, Yoshihiro; Yamazaki, Keiko; Nishida, Nao; Kawashima, Minae; Hitomi, Yuki; Nakamura, Hitomi; Komori, Atsumasa; Fuyuno, Yuta; Takahashi, Atsushi; Kawaguchi, Takaaki; Takazoe, Masakazu; Suzuki, Yasuo; Motoya, Satoshi; Matsui, Toshiyuki; Esaki, Motohiro; Matsumoto, Takayuki; Kubo, Michiaki; Tokunaga, Katsushi; Nakamura, Minoru

2015-09-01

We previously identified TNFSF15 as the most significant susceptibility gene at non-HLA loci for both primary biliary cirrhosis (PBC) and Crohn's diseases (CD) in the Japanese population. The aim of this study is to identify further disease susceptibility genes shared by PBC and CD. We selected 15 and 33 genetic variants that were significantly associated with PBC and CD, respectively, based on previously reported genome-wide association studies of the Japanese population. Next, an association study was independently performed for these genetic variants in CD (1312 CD patients and 3331 healthy controls) and PBC (1279 PBC patients and 1015 healthy controls) cohorts. Two CD susceptibility genes, ICOSLG rs2838519 and IL12B rs6556412, were also nominally associated with susceptibility to PBC (P=3.85 × 10(-2) and P=8.40 × 10(-3), respectively). Three PBC susceptibility genes, CXCR5 rs6421571, STAT4 rs7574865 and NFKB1 rs230534, were nominally associated with susceptibility to CD (P=2.82 × 10(-2), P=3.88 × 10(-2) and P=2.04 × 10(-2), respectively). The effect of ICOSLG and CXCR5 variants were concordant but the effect of STAT4, NFKB1 and IL12B variants were discordant for PBC and CD. TNFSF15 and ICOSLG-CXCR5 might constitute a shared pathogenic pathway in the development of PBC and CD in the Japanese population, whereas IL12B-STAT4-NFKB1 might constitute an opposite pathogenic pathway, reflecting the different balance between Th1 and Th17 in the two diseases.

Brain aneurysm repair - discharge

Science.gov (United States)

... this page: //medlineplus.gov/ency/patientinstructions/000123.htm Brain aneurysm repair - discharge To use the sharing features ... this page, please enable JavaScript. You had a brain aneurysm . An aneurysm is a weak area in ...

Influence of endoleaks on aneurysm volume and hemodynamics after endovascular aneurysm repair

International Nuclear Information System (INIS)

Pitton, M.B.; Welter, B.; Schmenger, P.; Thelen, M.; Dueber, C.; Neufang, A.

2003-01-01

Purpose: To evaluate the aneurysm volume and the intra-aneurysmatic pressure and maximal pressure pulse (dp/dtmax) in completely excluded aneurysms and cases with endoleaks. Materials and Methods: In 36 mongrel dogs, experimental autologous aneurysms were treated with stent-grafts. All aortic side branches were ligated in 18 cases (group I) but were preserved in group II (n=18). Aneurysm volumes were calculated from CT scans before and after intervention, and from follow-up CT scans at 1 week, 6 weeks and 6 months. Finally, for hemodynamic measurements, manometer-tipped catheters were introduced into the excluded aneurysm sac (group I and II), selectively in endoleaks (group II), and intraluminally for aortic reference measurement. Systemic hypertension was induced by volume load and pharmacologic stress. Pressure curves and dp/dt were simultaneously recorded and the ratios of aneurysm pressure to systemic reference pressure calculated. Results: At follow-up, type-II, endoleaks were excluded in all cases of group I by selective angiography. In contrast, endoleaks were evident in all cases of group II. Volumetric analysis of the aneurysms showed a benefit for group I with an improved aneurysm shrinkage: ΔVolume +0.08%, -1.62% and -9.76% at 1 week, 6 weeks and 6 months follow-up (median, group I), compared to +1.43%, +0.67%, and -4.04% (group II), p [de

Virulence properties of methicillin-susceptible Staphylococcus aureus food isolates encoding Panton-Valentine Leukocidin gene.

Science.gov (United States)

Sudagidan, Mert; Aydin, Ali

2010-04-15

In this study, three Panton-Valentine Leukocidin gene carrying methicillin-susceptible Staphylococcus aureus (MSSA) strains (M1-AAG42B, PY30C-b and YF1B-b) were isolated from different food samples in Kesan-Edirne, Turkey. These strains were characterized on the basis of MLST type, spa type, virulence factor gene contents, antibiotic susceptibilities against 21 antibiotics and biofilm formation. The genetic relatedness of the strains was determined by PFGE. In addition, the complete gene sequences of lukS-PV and lukF-PV were also investigated. All strains were found to be susceptible to tested antibiotics and they were mecA negative. Three strains showed the same PFGE band pattern, ST152 clonal type and t355 spa type. In the detection of virulence factor genes, sea, seb, sec, sed, see, seg, seh, sei, sej, sek, sel, sem, sen, seo, sep, seq, seu, eta, etb, set1, geh and tst genes were not detected. All strains showed the positive results for alpha- and beta-haemolysin genes (hla and hlb), protease encoding genes (sspA, sspB and aur), lukE and lukD leukocidin genes (lukED). The strains were found to be non-biofilm formers. By this study, the virulence properties of the strains were described and this is one of the first reports regarding PVL-positive MSSA strains from food. (c) 2010 Elsevier B.V. All rights reserved.

Endovascular treatment of very small intracranial aneurysms

DEFF Research Database (Denmark)

Iskandar, A; Nepper-Rasmussen, J

2011-01-01

to large aneurysms (> 3 mm). However the data also suggest that endovascular treatment of very small aneurysms might be associated with an increased risk of procedural ruptures and mortality. At nine-month follow-up results indicate significantly less compaction in the very small aneurysms....... endovascular treatment was attempted in 956 consecutive intracranial aneurysms. Of 956 aneurysms, 111 aneurysms were very small aneurysms with a maximal diameter of 3 mm or less. We conducted a retrospective analysis of angiographic and clinical outcome following coiling of very small aneurysms...... aneurysms and less than 90% aneurysm occlusion in six aneurysms. Complications occurred in the treatment of 15 aneurysms, including eight procedural ruptures, six thromboembolic events and one case of early hemorrhage. Compared with larger aneurysms, treatment of very small aneurysms was associated...

Aneurysmal Subarachnoid Hemorrhage

Science.gov (United States)

2015-01-01

Aneurysmal subarachnoid hemorrhage (SAH) is a worldwide health burden with high fatality and permanent disability rates. The overall prognosis depends on the volume of the initial bleed, rebleeding, and degree of delayed cerebral ischemia (DCI). Cardiac manifestations and neurogenic pulmonary edema indicate the severity of SAH. The International Subarachnoid Aneurysm Trial (ISAT) reported a favorable neurological outcome with the endovascular coiling procedure compared with surgical clipping at the end of 1 year. The ISAT trial recruits were primarily neurologically good grade patients with smaller anterior circulation aneurysms, and therefore the results cannot be reliably extrapolated to larger aneurysms, posterior circulation aneurysms, patients presenting with complex aneurysm morphology, and poor neurological grades. The role of hypothermia is not proven to be neuroprotective according to a large randomized controlled trial, Intraoperative Hypothermia for Aneurysms Surgery Trial (IHAST II), which recruited patients with good neurological grades. Patients in this trial were subjected to slow cooling and inadequate cooling time and were rewarmed rapidly. This methodology would have reduced the beneficial effects of hypothermia. Adenosine is found to be beneficial for transient induced hypotension in 2 retrospective analyses, without increasing the risk for cardiac and neurological morbidity. The neurological benefit of pharmacological neuroprotection and neuromonitoring is not proven in patients undergoing clipping of aneurysms. DCI is an important cause of morbidity and mortality following SAH, and the pathophysiology is likely multifactorial and not yet understood. At present, oral nimodipine has an established role in the management of DCI, along with maintenance of euvolemia and induced hypertension. Following SAH, hypernatremia, although less common than hyponatremia, is a predictor of poor neurological outcome. PMID:25272066

MicroRNA-181b Controls Atherosclerosis and Aneurysms Through Regulation of TIMP-3 and Elastin.

Science.gov (United States)

Di Gregoli, Karina; Mohamad Anuar, Nur Najmi; Bianco, Rosaria; White, Stephen J; Newby, Andrew C; George, Sarah J; Johnson, Jason L

2017-01-06

Atherosclerosis and aneurysms are leading causes of mortality worldwide. MicroRNAs (miRs) are key determinants of gene and protein expression, and atypical miR expression has been associated with many cardiovascular diseases; although their contributory role to atherosclerotic plaque and abdominal aortic aneurysm stability are poorly understood. To investigate whether miR-181b regulates tissue inhibitor of metalloproteinase-3 expression and affects atherosclerosis and aneurysms. Here, we demonstrate that miR-181b was overexpressed in symptomatic human atherosclerotic plaques and abdominal aortic aneurysms and correlated with decreased expression of predicted miR-181b targets, tissue inhibitor of metalloproteinase-3, and elastin. Using the well-characterized mouse atherosclerosis models of Apoe - /- and Ldlr -/- , we observed that in vivo administration of locked nucleic acid anti-miR-181b retarded both the development and the progression of atherosclerotic plaques. Systemic delivery of anti-miR-181b in angiotensin II-infused Apoe -/- and Ldlr -/- mice attenuated aneurysm formation and progression within the ascending, thoracic, and abdominal aorta. Moreover, miR-181b inhibition greatly increased elastin and collagen expression, promoting a fibrotic response and subsequent stabilization of existing plaques and aneurysms. We determined that miR-181b negatively regulates macrophage tissue inhibitor of metalloproteinase-3 expression and vascular smooth muscle cell elastin production, both important factors in maintaining atherosclerotic plaque and aneurysm stability. Validation studies in Timp3 -/- mice confirmed that the beneficial effects afforded by miR-181b inhibition are largely tissue inhibitor of metalloproteinase-3 dependent, while also revealing an additional protective effect through elevating elastin synthesis. Our findings suggest that the management of miR-181b and its target genes provides therapeutic potential for limiting the progression of

Impact of Maspin Polymorphism rs2289520 G/C and Its Interaction with Gene to Gene, Alcohol Consumption Increase Susceptibility to Oral Cancer Occurrence.

Science.gov (United States)

Yang, Po-Yu; Miao, Nae-Fang; Lin, Chiao-Wen; Chou, Ying-Erh; Yang, Shun-Fa; Huang, Hui-Chuan; Chang, Hsiu-Ju; Tsai, Hsiu-Ting

2016-01-01

The purpose of this study was to identify gene polymorphisms of mammary serine protease inhibitor (Maspin) specific to patients with oral cancer susceptibility and clinicopathological status. Three single-nucleotide polymorphisms (SNPs) of the Maspin gene from 741 patients with oral cancer and 601 non-cancer controls were analyzed by real-time PCR. The participants with G/G homozygotes or with G/C heterozygotes of Maspin rs2289520 polymorphism had a 2.07-fold (p = 0.01) and a 2.01-fold (p = 0.02) risk of developing oral cancer compared to those with C/C homozygotes. Moreover, gene-gene interaction increased the risk of oral cancer susceptibility among subjects expose to oral cancer related risk factors, including areca, alcohol, and tobacco consumption. G allele of Maspin rs2289520 polymorphism may be a factor that increases the susceptibility to oral cancer. The interactions of gene to oral cancer-related environmental risk factors have a synergetic effect that can further enhance oral cancer development.

The effect of endoleak on intra-aneurysmal pressure after EVE for abdominal aortic aneurysm

International Nuclear Information System (INIS)

Huang Sheng; Jing Zaiping; Mei Zhijun; Lu Qingsheng; Zhao Jun; Zhang Suzhen; Zhao Xin; Cai Lili; Tang Jingdong; Xiong Jiang; Liao Mingfang

2003-01-01

Objective: To investigate the intra-aneurysmal pressure curve in the presence of endoleak after endovascular exclusion (EVE) for abdominal aortic aneurysm (AAA). Methods: Infrarenal aortic aneurysms were created with bovine jugular vein segments or patches. Then they were underwent incomplete endovascular exclusion of the aneurysm and formation of endoleaks. The pressures of blood flow outside the graft into the sac were measured. Results: The intrasac pressure was higher than systemic pressure in the presence of endoleak. After sealing the endoleak, pressure decreased significantly, and the pressure cure showed approximately linear. Conclusion: The change of intra-aneurysmal pressure curve reflected the load on aneurysmal wall after EVE, and can also help to determine the endoleak existence

Use of deep whole-genome sequencing data to identify structure risk variants in breast cancer susceptibility genes.

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Guo, Xingyi; Shi, Jiajun; Cai, Qiuyin; Shu, Xiao-Ou; He, Jing; Wen, Wanqing; Allen, Jamie; Pharoah, Paul; Dunning, Alison; Hunter, David J; Kraft, Peter; Easton, Douglas F; Zheng, Wei; Long, Jirong

2018-03-01

Functional disruptions of susceptibility genes by large genomic structure variant (SV) deletions in germlines are known to be associated with cancer risk. However, few studies have been conducted to systematically search for SV deletions in breast cancer susceptibility genes. We analysed deep (> 30x) whole-genome sequencing (WGS) data generated in blood samples from 128 breast cancer patients of Asian and European descent with either a strong family history of breast cancer or early cancer onset disease. To identify SV deletions in known or suspected breast cancer susceptibility genes, we used multiple SV calling tools including Genome STRiP, Delly, Manta, BreakDancer and Pindel. SV deletions were detected by at least three of these bioinformatics tools in five genes. Specifically, we identified heterozygous deletions covering a fraction of the coding regions of BRCA1 (with approximately 80kb in two patients), and TP53 genes (with ∼1.6 kb in two patients), and of intronic regions (∼1 kb) of the PALB2 (one patient), PTEN (three patients) and RAD51C genes (one patient). We confirmed the presence of these deletions using real-time quantitative PCR (qPCR). Our study identified novel SV deletions in breast cancer susceptibility genes and the identification of such SV deletions may improve clinical testing.

Aneurysm occlusion in elderly patients with aneurysmal subarachnoid haemorrhage : a cost-utility analysis

NARCIS (Netherlands)

Koffijberg, H.; Buskens, E.; Rinkel, G. J. E.

Background Aneurysm occlusion after subarachnoid haemorrhage (SAH) aims to improve outcome by reducing the rebleeding risk. With increasing age, overall prognosis decreases, and the complications of aneurysm occlusion increase. The balance of risks for aneurysm occlusion in elderly SAH patients in

Brain Aneurysm: Treatment Options

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... inoperable aneurysms. Decisions regarding management of an unruptured brain aneurysm are based on the careful comparison of the short- and ... so Tired? How Do I Deal With Depression? Learning Principles to Aid Recovery The Memory Book ... Aneurysm Foundation Support Community Research & Grants BAF Research ...

Influence of doxorubicin on fluconazole susceptibility and efflux pump gene expression of Candida dubliniensis.

LENUS (Irish Health Repository)

Schulz, Bettina

2012-05-01

The effect of doxorubicin (DOX) on the fluconazole (FLU) susceptibility of C. dubliniensis was investigated. Isolates were exposed to DOX and FLU in a chequerboard assay and resistance gene expressions were analysed after DOX exposure. The susceptibility of the yeast to FLU was decreased in the presence of DOX in the chequerboard assay with FIC indices suggesting an antagonistic effect. Gene expression analyses showed an overexpression of CdCDR2. Hence, DOX was found to have an impact on resistance mechanisms in C. dubliniensis isolates.

PTPN22 gene polymorphisms in autoimmune diseases with special reference to systemic lupus erythematosus disease susceptibility

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Pradhan V

2010-01-01

Full Text Available Systemic lupus erythematosus (SLE is a prototype autoimmune disease. SLE is a result of one or more immune mechanisms, like autoantibody production, complement activation, multiple inflammation and immune complex deposition leading to organ tissue damage. SLE affected patients are susceptible to common and opportunistic infections. There are several reports suggesting that Mycobacterium tuberculosis infection precipitates SLE in patients from endemic areas. Genetic factors and environmental factors also play an important role in the overall susceptibility to SLE pathophysiology. Recently, protein tyrosine phosphatase, non-receptor type 22 (PTPN22 gene, has been found to be associated with several autoimmune diseases like SLE, Grave′s disease and Hashimoto thyroiditis. The missense R620W polymorphism, rs 2476601, in PTPN22 gene at the nucleotide 1858 in codon 620 (620Arg > Trp has been associated with autoimmune diseases. The PTPN22 locus is also found to be responsible for development of pulmonary tuberculosis in certain populations. The PTPN22 1858C/T gene locus will be ideal to look for SLE susceptibility to tuberculosis in the Indian population. In this review, we focus on human PTPN22 gene structure and function as well as the association of PTPN22 gene polymorphisms with SLE susceptibility

Difference in aneurysm characteristics between patients with familial and sporadic aneurysmal subarachnoid haemorrhage

NARCIS (Netherlands)

Mensing, Liselore A.; Rinkel, Gabriel J E; Vlak, Monique H M; Van Der Schaaf, Irene C.; Ruigrok, Ynte M.

2016-01-01

Object Patients with familial intracranial aneurysms (IA) have a higher risk of rupture than patients with sporadic IA. We compared geometric and morphological risk factors for aneurysmal rupture between patients with familial and sporadic aneurysmal subarachnoid hemorrhage (aSAH) to analyse if

Profiling gene expression of antimony response genes in Leishmania (Viannia) panamensis and infected macrophages and its relationship with drug susceptibility.

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Barrera, Maria Claudia; Rojas, Laura Jimena; Weiss, Austin; Fernandez, Olga; McMahon-Pratt, Diane; Saravia, Nancy G; Gomez, Maria Adelaida

2017-12-01

The mechanisms of Leishmania resistance to antimonials have been primarily determined in experimentally derived Leishmania strains. However, their participation in the susceptibility phenotype in field isolates has not been conclusively established. Being an intracellular parasite, the activity of antileishmanials is dependent on internalization of drugs into host cells and effective delivery to the intracellular compartments inhabited by the parasite. In this study we quantified and comparatively analyzed the gene expression of nine molecules involved in mechanisms of xenobiotic detoxification and Leishmania resistance to antimonial drugs in resistant and susceptible laboratory derived and clinical L.(Viannia) panamensis strains(n=19). In addition, we explored the impact of Leishmania susceptibility to antimonials on the expression of macrophage gene products having putative functions in transport, accumulation and metabolism of antimonials. As previously shown for other Leishmania species, a trend of increased abcc3 and lower aqp-1 expression was observed in the laboratory derived Sb-resistant L.(V.) panamensis line. However, this was not found in clinical strains, in which the expression of abca2 was significantly higher in resistant strains as both, promastigotes and intracellular amastigotes. The effect of drug susceptibility on host cell gene expression was evaluated on primary human macrophages from patients with cutaneous leishmaniasis (n=17) infected ex-vivo with the matched L.(V.) panamensis strains isolated at diagnosis, and in THP-1 cells infected with clinical strains (n=6) and laboratory adapted L.(V.) panamensis lines. Four molecules, abcb1 (p-gp), abcb6, aqp-9 and mt2a were differentially modulated by drug resistant and susceptible parasites, and among these, a consistent and significantly increased expression of the xenobiotic scavenging molecule mt2a was observed in macrophages infected with Sb-susceptible L. (V.) panamensis. Our results

Ex vivo repair of renal artery aneurysm associated with surgical treatment of abdominal aortic aneurysm

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Kostić Dušan M.

2004-01-01

Full Text Available INTRODUCTION Renal artery aneurysms is relatively uncommon with reported incidence ranges from 0.3% to 1%. However, considering all visceral artery aneurysms the percentage of renal artery aneurysms is relatively high between 15-25%. The distal forms of renal artery aneurysms sometimes require "ex vivo" reconstruction and kidney autotransplantation. CASE REPORT A 75-year-old male presented with the right abdominal and back pain. He suffered from a long history of arterial hypertension and chronic renal failure over the last few months (urea blood = 19.8 mmol/l; creatinine = 198 mmol/l. Duplex ultrasonography showed abdominal aortic aneurysm. Subsequent translumbarangiography revealed juxtarenal abdominal aortic aneurysm associated with distal right renal artery aneurysm. The operation was performed under combined thoracic epidural analgesia and general anesthesia using transperitoneal approach. After the laparotomy, the ascending colon was mobilized and reflected medially followed by Kocher maneuver. The result was visualization of the anterior aspect of the right kidney, the collecting system, ureter as well as the right renal vein and artery with large saccular aneurysm located distally. After mobilization of the renal vessels and careful dissection of the ureter, the kidney was explanted. The operation was continued by two surgical teams. The first team performed abdominal aortic aneurysm resection and reconstruction with bifurcated Dacron graft. The second team performed ex vivo reparation of renal artery aneurysm. All time during the explantation, the kidney was perfused by Collins' solution. The saccular right renal artery aneurysm 4 cm in diameter was located at the kidney hilus at the first bifurcation. Three branches originated from the aneurysm. The aneurysm was resected completely. The longest and widest of three branches arising from the aneurysmal sac was end-to-end anastomized with 6 mm PTFE graft. After this intervention, one of

Toxoplasmosis and Polygenic Disease Susceptibility Genes: Extensive Toxoplasma gondii Host/Pathogen Interactome Enrichment in Nine Psychiatric or Neurological Disorders

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C. J. Carter

2013-01-01

Full Text Available Toxoplasma gondii is not only implicated in schizophrenia and related disorders, but also in Alzheimer's or Parkinson's disease, cancer, cardiac myopathies, and autoimmune disorders. During its life cycle, the pathogen interacts with ~3000 host genes or proteins. Susceptibility genes for multiple sclerosis, Alzheimer's disease, schizophrenia, bipolar disorder, depression, childhood obesity, Parkinson's disease, attention deficit hyperactivity disorder (multiple sclerosis, and autism (, but not anorexia or chronic fatigue are highly enriched in the human arm of this interactome and 18 (ADHD to 33% (MS of the susceptibility genes relate to it. The signalling pathways involved in the susceptibility gene/interactome overlaps are relatively specific and relevant to each disease suggesting a means whereby susceptibility genes could orient the attentions of a single pathogen towards disruption of the specific pathways that together contribute (positively or negatively to the endophenotypes of different diseases. Conditional protein knockdown, orchestrated by T. gondii proteins or antibodies binding to those of the host (pathogen derived autoimmunity and metabolite exchange, may contribute to this disruption. Susceptibility genes may thus be related to the causes and influencers of disease, rather than (and as well as to the disease itself.

Superior cerebellar aneurysm causing subarachnoid haemorrhage in a 17-year-old with alagille syndrome.

LENUS (Irish Health Repository)

O'Connell, David

2012-04-01

Alagille syndrome is a rare autosomal dominant condition characterised by mutation in Jagged1 gene. Intracranial aneurysms may be seen in this condition and may present as subarachnoid hemorrhage. We describe the first case of superior cerebellar aneurysm rupture causing WFNS grade 1 subarachnoid haemorrhage in a 17-year-old girl. The clinical condition and management of this rare occurrence is discussed with a review of literature.

Radiation Exposure in Endovascular Infra-Renal Aortic Aneurysm Repair and Factors that Influence It

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Rui Machado

Full Text Available Abstract Objective: The endovascular repair of aortic abdominal aneurysms exposes the patients and surgical team to ionizing radiation with risk of direct tissue damage and induction of gene mutation. This study aims to describe our standard of radiation exposure in endovascular aortic aneurysm repair and the factors that influence it. Methods: Retrospective analysis of a prospective database of patients with abdominal infra-renal aortic aneurysms submitted to endovascular repair. This study evaluated the radiation doses (dose area product (DAP, fluoroscopy durations and their relationships to the patients, aneurysms, and stent-graft characteristics. Results: This study included 127 patients with a mean age of 73 years. The mean DAP was 4.8 mGy.m2, and the fluoroscopy time was 21.8 minutes. Aortic bilateral iliac aneurysms, higher body mass index, aneurysms with diameters larger than 60 mm, necks with diameters larger than 28 mm, common iliac arteries with diameters larger than 20 mm, and neck angulations superior to 50 degrees were associated with an increased radiation dose. The number of anatomic risk factors present was associated with increased radiation exposure and fluoroscopy time, regardless of the anatomical risk factors. Conclusion: The radiation exposure during endovascular aortic aneurysm repair is significant (mean DAP 4.8 mGy.m2 with potential hazards to the surgical team and the patients. The anatomical characteristics of the aneurysm, patient characteristics, and the procedure's technical difficulty were all related to increased radiation exposure during endovascular aortic aneurysm repair procedures. Approximately 40% of radiation exposure can be explained by body mass index, neck angulation, aneurysm diameter, neck diameter, and aneurysm type.

Gene Variants Are Associated with PCOS Susceptibility and Hyperandrogenemia in Young Korean Women

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Do Kyeong Song

2014-08-01

Full Text Available BackgroundThe fat mass and obesity-associated (FTO gene is associated with obesity and type 2 diabetes mellitus. Obesity and insulin resistance are also common features of polycystic ovary syndrome (PCOS. Therefore, the FTO gene might be a candidate gene for PCOS susceptibility. The aim of the present study was to evaluate the effects of FTO gene variants on PCOS susceptibility and metabolic and reproductive hormonal parameters.MethodsWe recruited 432 women with PCOS (24±5 years and 927 healthy women with regular menstrual cycles (27±5 years and performed a case-control association study. We genotyped the single nucleotide polymorphisms rs1421085, rs17817449, and rs8050136 in the FTO gene and collected metabolic and hormonal measurements.ResultsLogistic regression revealed that the G/G genotype (rs1421085, 1.6%, the C/C genotype (rs17817449, 1.6%, and the A/A genotype (rs8050136, 1.6% were strongly associated with an increased risk of PCOS (odds ratio, 2.551 to 2.559; all P<0.05. The strengths of these associations were attenuated after adjusting for age and BMI. The women with these genotypes were more obese and exhibited higher free androgen indices (P<0.05 and higher free testosterone levels (P=0.053 to 0.063 compared to the other genotypes. However the significant differences disappeared after adjusting for body mass index (BMI. When we analyzed the women with PCOS and the control groups separately, there were no significant differences in the metabolic and reproductive hormonal parameters according to the FTO gene variants.ConclusionThe rs1421085, rs17817449, and rs8050136 variants of the FTO gene were associated with PCOS susceptibility and hyperandrogenemia in young Korean women. These associations may be mediated through an effect of BMI.

Association between TNF-α-238G/A gene polymorphism and OCD susceptibility: A meta-analysis.

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Jiang, Caixiao; Ma, Xinyan; Qi, Shunxiang; Han, Guangyue; Li, Yan; Liu, Yanfang; Liu, Lanfen

2018-02-01

Tumor necrosis factor-alpha (TNF-α) is an important cytokine and has been reported to be associated with the pathogenesis of many autoimmune and inflammatory diseases. TNF-α gene is located on a region that has been found to be associated with obsessive-compulsive disorder (OCD). We performed this meta-analysis to assess the relationship between susceptibility to OCD and the TNF-α-238G/A gene polymorphism. An extensive search of the available literature on the association between the susceptibility to OCD and the TNF gene polymorphism was conducted by searching PubMed, Web of Knowledge, Embase, Chinese Web of Knowledge, Wanfang, and Chongqing VIP database. The database was searched up to December 2016 and includes language of English and/or Chinese with the keywords of "obsessive-compulsive disorder" or "OCD," polymorphism or variant or mutation, "tumor necrosis factor" or "TNF" or "cytokine." The association between TNF-α-238G/A gene polymorphism and the susceptibility of OCD was anticipated by odds ratio (OR) with the corresponding 95% confidence interval (95% CI). Four studies including 435 cases and 1073 controls were incorporated in our meta-analysis. In general, TNF-α-238G/A gene polymorphism might lead to a decreased risk of OCD susceptibility (G vs A genotype model: OR = 1.01, 95% CI = 0.37-2.77, P = .981; GG vs AA+AG model: OR = 0.93, 95% CI = 0.37-2.36, P = .879; GG+AG vs AA model: OR = 0.22, 95% CI = 0.06-0.73, P = .014; GG vs AA model: OR = 0.21, 95% CI = 0.06-0.71, P = .012; AG vs AA model: OR = 0.29, 95% CI = 0.07-1.16, P = .081; GG+AA vs AG model: OR = 1.17, 95% CI = 0.55-2.51, P = .683). TNF-α-238G/A gene polymorphism might lead to a decreased risk of OCD susceptibility.

A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility

DEFF Research Database (Denmark)

Damotte, V; Guillot-Noel, L; Patsopoulos, N A

2014-01-01

adhesion molecule (CAMs) biological pathway using Cytoscape software. This network is a strong candidate, as it is involved in the crossing of the blood-brain barrier by the T cells, an early event in MS pathophysiology, and is used as an efficient therapeutic target. We drew up a list of 76 genes...... in interaction with other genes as a group. Pathway analysis is an alternative way to highlight such group of genes. Using SNP association P-values from eight multiple sclerosis (MS) GWAS data sets, we performed a candidate pathway analysis for MS susceptibility by considering genes interacting in the cell...... belonging to the CAM network. We highlighted 64 networks enriched with CAM genes with low P-values. Filtering by a percentage of CAM genes up to 50% and rejecting enriched signals mainly driven by transcription factors, we highlighted five networks associated with MS susceptibility. One of them, constituted...

Brain Aneurysm Statistics and Facts

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... Statistics and Facts A- A A+ Brain Aneurysm Statistics and Facts An estimated 6 million people in ... Understanding the Brain Warning Signs/ Symptoms Brain Aneurysm Statistics and Facts Seeking Medical Attention Risk Factors Aneurysm ...

Vascular Variations Associated with Intracranial Aneurysms.

Science.gov (United States)

Orakdogen, Metin; Emon, Selin Tural; Somay, Hakan; Engin, Taner; Is, Merih; Hakan, Tayfun

2017-01-01

To investigate the vascular variations in patients with intracranial aneurysm in circle of Willis. We used the data on 128 consecutive intracranial aneurysm cases. Cerebral angiography images were analyzed retrospectively. Arteries were grouped as anterior cerebral arterial system (ACS), posterior cerebral arterial system (PCS) and middle cerebral arterial system (MCS) for grouping vascular variations. Lateralization, being single/multiple, gender; and also any connection with accompanying aneurysms" number, localization, dimension, whether bleeding/incidental aneurysm has been inspected. Variations were demonstrated in 57.8% of the cases. The most common variation was A1 variation (34.4%). The rate of variations was 36.7%, 24.2% and 10.2% respectively in ACS, PCS and MCS. MCS variations were significantly higher in males. Anterior communicating artery (ACoA) aneurysm observance rates were significantly higher and posterior communicating artery (PCoA) aneurysm and middle cerebral artery (MCA) aneurysm observance rates were significantly lower when compared to "no ACS variation detected" cases. In "PCS variation detected" cases, PCoA aneurysm observance rates and coexistence of multiple variations were significantly higher. The rate of vascular variations in patients with aneurysms was 57.8%. Arterial hypoplasia and aplasia were the most common variations. ACS was the most common region that variations were located in; they were mostly detected on the right side. Coexistence of ACoA aneurysm was higher than PCoA and MCA aneurysms. In the PCS variations group, PCoA aneurysms were the most common aneurysms that accompanying the variation and multiple variations were more common than in the other two groups. The variations in MCS were most common in males.

Investigation of Gamma-aminobutyric acid (GABA A receptors genes and migraine susceptibility

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Ciccodicola Alfredo

2008-12-01

Full Text Available Abstract Background Migraine is a neurological disorder characterized by recurrent attacks of severe headache, affecting around 12% of Caucasian populations. It is well known that migraine has a strong genetic component, although the number and type of genes involved is still unclear. Prior linkage studies have reported mapping of a migraine gene to chromosome Xq 24–28, a region containing a cluster of genes for GABA A receptors (GABRE, GABRA3, GABRQ, which are potential candidate genes for migraine. The GABA neurotransmitter has been implicated in migraine pathophysiology previously; however its exact role has not yet been established, although GABA receptors agonists have been the target of therapeutic developments. The aim of the present research is to investigate the role of the potential candidate genes reported on chromosome Xq 24–28 region in migraine susceptibility. In this study, we have focused on the subunit GABA A receptors type ε (GABRE and type θ (GABRQ genes and their involvement in migraine. Methods We have performed an association analysis in a large population of case-controls (275 unrelated Caucasian migraineurs versus 275 controls examining a set of 3 single nucleotide polymorphisms (SNPs in the coding region (exons 3, 5 and 9 of the GABRE gene and also the I478F coding variant of the GABRQ gene. Results Our study did not show any association between the examined SNPs in our test population (P > 0.05. Conclusion Although these particular GABA receptor genes did not show positive association, further studies are necessary to consider the role of other GABA receptor genes in migraine susceptibility.

The influence of atmospheric pressure on aortic aneurysm rupture--is the diameter of the aneurysm important?

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Urbanek, Tomasz; Juśko, Maciej; Niewiem, Alfred; Kuczmik, Wacław; Ziaja, Damian; Ziaja, Krzysztof

2015-01-01

The rate of aortic aneurysm rupture correlates with the aneurysm's diameter, and a higher rate of rupture is observed in patients with larger aneurysms. According to the literature, contradictory results concerning the relationship between atmospheric pressure and aneurysm size have been reported. In this paper, we assessed the influence of changes in atmospheric pressure on abdominal aneurysm ruptures in relationship to the aneurysm's size. The records of 223 patients with ruptured abdominal aneurysms were evaluated. All of the patients had been admitted to the department in the period 1997-2007 from the Silesia region. The atmospheric pressures on the day of the rupture and on the days both before the rupture and between the rupture events were compared. The size of the aneurysm was also considered in the analysis. There were no statistically significant differences in pressure between the days of rupture and the remainder of the days within an analysed period. The highest frequency of the admission of patients with a ruptured aortic aneurysm was observed during periods of winter and spring, when the highest mean values of atmospheric pressure were observed; however, this observation was not statistically confirmed. A statistically non-significant trend towards the higher rupture of large aneurysms (> 7 cm) was observed in the cases where the pressure increased between the day before the rupture and the day of the rupture. This trend was particularly pronounced in patients suffering from hypertension (p = 0.1). The results of this study do not support the hypothesis that there is a direct link between atmospheric pressure values and abdominal aortic aneurysm ruptures.

Differential susceptibility to maternal expressed emotion in children with ADHD and their siblings? Investigating plasticity genes, prosocial and antisocial behaviour.

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Richards, Jennifer S; Hartman, Catharina A; Franke, Barbara; Hoekstra, Pieter J; Heslenfeld, Dirk J; Oosterlaan, Jaap; Arias Vásquez, Alejandro; Buitelaar, Jan K

2015-02-01

The differential susceptibility theory states that children differ in their susceptibility towards environmental experiences, partially due to plasticity genes. Individuals carrying specific variants in such genes will be more disadvantaged in negative but, conversely, more advantaged in positive environments. Understanding gene-environment interactions may help unravel the causal mechanisms involved in multifactorial psychiatric disorders such as Attention-Deficit/Hyperactivity Disorder (ADHD). The differential susceptibility theory was examined by investigating the presence of interaction effects between maternal expressed emotion (EE; warmth and criticism) and the solitary and combined effects of plasticity genes (DAT1, DRD4, 5-HTT) on prosocial and antisocial behaviour (measured with parent- and self-reports) in children with ADHD and their siblings (N = 366, M = 17.11 years, 74.9% male). Maternal warmth was positively associated with prosocial behaviour and negatively with antisocial behaviour, while maternal criticism was positively associated with antisocial behaviour and negatively with prosocial behaviour. No evidence of differential susceptibility was found. The current study found no evidence for differential susceptibility based on the selected plasticity genes, in spite of strong EE-behaviour associations. It is likely that additional factors play a role in the complex relationship between genes, environment and behaviour.

Gene Expression Analysis of Plum pox virus (Sharka) Susceptibility/Resistance in Apricot (Prunus armeniaca L.).

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Rubio, Manuel; Ballester, Ana Rosa; Olivares, Pedro Manuel; Castro de Moura, Manuel; Dicenta, Federico; Martínez-Gómez, Pedro

2015-01-01

RNA-Seq has proven to be a very powerful tool in the analysis of the Plum pox virus (PPV, sharka disease)/Prunus interaction. This technique is an important complementary tool to other means of studying genomics. In this work an analysis of gene expression of resistance/susceptibility to PPV in apricot is performed. RNA-Seq has been applied to analyse the gene expression changes induced by PPV infection in leaves from two full-sib apricot genotypes, "Rojo Pasión" and "Z506-7", resistant and susceptible to PPV, respectively. Transcriptomic analyses revealed the existence of more than 2,000 genes related to the pathogen response and resistance to PPV in apricot. These results showed that the response to infection by the virus in the susceptible genotype is associated with an induction of genes involved in pathogen resistance such as the allene oxide synthase, S-adenosylmethionine synthetase 2 and the major MLP-like protein 423. Over-expression of the Dicer protein 2a may indicate the suppression of a gene silencing mechanism of the plant by PPV HCPro and P1 PPV proteins. On the other hand, there were 164 genes involved in resistance mechanisms that have been identified in apricot, 49 of which are located in the PPVres region (scaffold 1 positions from 8,050,804 to 8,244,925), which is responsible for PPV resistance in apricot. Among these genes in apricot there are several MATH domain-containing genes, although other genes inside (Pleiotropic drug resistance 9 gene) or outside (CAP, Cysteine-rich secretory proteins, Antigen 5 and Pathogenesis-related 1 protein; and LEA, Late embryogenesis abundant protein) PPVres region could also be involved in the resistance.

Association of vitamin D receptor BsmI (rs1544410) gene polymorphism with the chronic kidney disease susceptibility.

Science.gov (United States)

Zhou, Tian-Biao; Jiang, Zong-Pei; Huang, Miao-Fang

2015-02-01

Association of vitamin D receptor (VDR) BsmI (rs1544410) gene polymorphism with the chronic kidney disease (CKD) susceptibility from the published reports are still conflicting. This meta-analysis was performed to evaluate the relationship between VDR BsmI (rs1544410) gene polymorphism and the risk of CKD. The association studies were identified from PubMed, Cochrane Library and China Biological Medicine Database on 1 March 2014, and eligible investigations were included and synthesized using meta-analysis method. Nine reports were recruited into this meta-analysis for the association of VDR BsmI gene polymorphism with CKD susceptibility. In this meta-analysis for overall populations, the BsmI B allele BB genotype and bb genotype were not associated with the risk of CKD (B allele: OR = 1.12, 95% CI: 0.88-1.44, p = 0.36; BB genotype: OR = 1.15, 95% CI: 0.81-1.62, p = 0.43; bb genotype: OR = 0.86, 95% CI: 0.61-1.20, p = 0.36). Furthermore, VDR BsmI gene polymorphism was not associated with CKD susceptibility in Asians and in Caucasians. In conclusion, the BsmI gene polymorphism was not associated with CKD susceptibility in overall populations, in Asians and in Caucasians. However, more studies should be conducted to confirm it.

Relationship between endothelial nitric oxide synthase (eNOS) and natural history of intracranial aneurysms: meta-analysis.

Science.gov (United States)

Paschoal, Eric Homero Albuquerque; Yamaki, Vitor Nagai; Teixeira, Renan Kleber Costa; Paschoal Junior, Fernando Mendes; Jong-A-Liem, Glaucia Suzanna; Teixeira, Manoel Jacobsen; Yamada, Elizabeth Sumi; Ribeiro-Dos-Santos, Ândrea; Bor-Seng-Shu, Edson

2018-01-01

The aneurysmal subarachnoid hemorrhage is a major public health problem described as a sudden drastic event with no warning symptoms and high morbidity and mortality rates. The role of the endothelial isoform of nitric oxide synthase gene polymorphism in intracranial aneurysms (IAs) is still a matter of controversy with divergent findings among European, American, and Asian populations. Our study purposed to test the association between intracranial aneurysms formation and nitric oxide gene polymorphisms through a systematic review and meta-analysis. Systematic search on Medline, Lilacs, and EMBASE was performed. The primary search resulted in 139 papers, out of which 9 met our inclusion criteria after a full text analysis. The dominant T786C model found a significant association with IA (OR 1.22, 95 % CI 1.04-1.44, p = 0.01), so did studies of the recessive T786C model (OR 0.37, 95 % CI 0.30-0.45, p < 0.0001) but with opposite effect. Our findings support the presence of the T786C polymorphism as a predictor for the development of intracranial aneurysm in the cerebral vascular system. More studies are necessary in order to elucidate the pathways of the endothelial nitric oxide synthase (eNOS) in cerebrovascular diseases and in defining how different allelic combinations of the eNOS gene single-nucleotide polymorphism (SNP) could favor this pathological process.

Screening for susceptibility genes in hereditary non-polyposis colorectal cancer.

Science.gov (United States)

Yu, Li; Yin, Bo; Qu, Kaiying; Li, Jingjing; Jin, Qiao; Liu, Ling; Liu, Chunlan; Zhu, Yuxing; Wang, Qi; Peng, Xiaowei; Zhou, Jianda; Cao, Peiguo; Cao, Ke

2018-06-01

In the present study, hereditary non-polyposis colorectal cancer (HNPCC) susceptibility genes were screened for using whole exome sequencing in 3 HNPCC patients from 1 family and using single nucleotide polymorphism (SNP) genotyping assays in 96 other colorectal cancer and control samples. Peripheral blood was obtained from 3 HNPCC patients from 1 family; the proband and the proband's brother and cousin. High-throughput sequencing was performed using whole exome capture technology. Sequences were aligned against the HAPMAP, dbSNP130 and 1,000 Genome Project databases. Reported common variations and synonymous mutations were filtered out. Non-synonymous single nucleotide variants in the 3 HNPCC patients were integrated and the candidate genes were identified. Finally, SNP genotyping was performed for the genes in 96 peripheral blood samples. In total, 60.4 Gb of data was retrieved from the 3 HNPCC patients using whole exome capture technology. Subsequently, according to certain screening criteria, 15 candidate genes were identified. Among the 96 samples that had been SNP genotyped, 92 were successfully genotyped for 15 gene loci, while genotyping for HTRA1 failed in 4 sporadic colorectal cancer patient samples. In 12 control subjects and 81 sporadic colorectal cancer patients, genotypes at 13 loci were wild-type, namely DDX20, ZFYVE26, PIK3R3, SLC26A8, ZEB2, TP53INP1, SLC11A1, LRBA, CEBPZ, ETAA1, SEMA3G, IFRD2 and FAT1 . The CEP290 genotype was mutant in 1 sporadic colorectal cancer patient and was wild-type in all other subjects. A total of 5 of the 12 control subjects and 30 of the 81 sporadic colorectal cancer patients had a mutant HTRA1 genotype. In all 3 HNPCC patients, the same mutant genotypes were identified at all 15 gene loci. Overall, 13 potential susceptibility genes for HNPCC were identified, namely DDX20, ZFYVE26, PIK3R3, SLC26A8, ZEB2, TP53INP1, SLC11A1, LRBA, CEBPZ, ETAA1, SEMA3G, IFRD2 and FAT1 .

Ruptured submitral aneurysm

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V. Shukla

2016-09-01

Full Text Available Submitral aneurysm is a rare entity, with around few hundred cases reported till date. Presentation can be varied. We describe here a case of submitral aneurysm in a young male with rupture into the left atrium cavity.

Evaluation of Aneurysm Neck Angle Change After Endovascular Aneurysm Repair Clinical Investigations

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Le, Trong Binh; Moon, Mi Hyoung [Inha University Hospital, Endovascular Training Center (Korea, Republic of); Jeon, Yong Sun, E-mail: radjeon@inha.ac.kr [Inha University Hospital, Inha University School of Medicine, Department of Radiology (Korea, Republic of); Hong, Kee Chun [Inha University School of Medicine, Department of Vascular Surgery (Korea, Republic of); Cho, Soon Gu [Inha University Hospital, Inha University School of Medicine, Department of Radiology (Korea, Republic of); Park, Keun-Myoung [Inha University School of Medicine, Department of Vascular Surgery (Korea, Republic of)

2016-05-15

PurposeTo evaluate the aneurysm neck angle changes and post-endovascular aneurysm repair (EVAR) complications.MethodsWe retrospectively analyzed 72 cases of elective EVAR for abdominal aortic aneurysm among 109 consecutive cases from December 2005 to April 2014. Patients were divided into angulated and non-angulated groups. The angulated group was defined as neck angulation ≥60°. Neck angle was evaluated pre- and post-EVAR during short- (within 1 month), mid- (3–6 months), and long-term (>1 year) follow-up. Aneurysm sac diameter change, aneurysm neck morphology other than angulation, endoleaks, and other post-procedural complications were also documented.ResultsA total of 34 patients were enrolled in the angulated group. There were no statistical differences in age, sex, follow-up duration, and aneurysm neck profile between the two groups (p > 0.05). Both groups showed statistically significant and consistent decreases in angulation during the follow-up period (p < 0.01). The angulated group revealed 22.45 % more straightening than the non-angulated group. Recoil of the Endurant device occurred in the angulated group. No statistically significant intergroup differences were observed in any endoleaks, complications, or re-intervention rates (p > 0.05). Pre-EVAR angle was the only predictor for post-procedural angle change (p < 0.001).ConclusionEVAR is applicable for patients with highly angulated aneurysm neck and provides consistent neck straightening over long-term follow-up. Recoil was evident in the angulated group using the Endurant device.

Microarray analysis of gene expression profiles of Schistosoma japonicum derived from less-susceptible host water buffalo and susceptible host goat.

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Jianmei Yang

Full Text Available BACKGROUND: Water buffalo and goats are natural hosts for S. japonicum in endemic areas of China. The susceptibility of these two hosts to schistosome infection is different, as water buffalo are less conducive to S. japonicum growth and development. To identify genes that may affect schistosome development and survival, we compared gene expression profiles of schistosomes derived from these two natural hosts using high-throughput microarray technology. RESULTS: The worm recovery rate was lower and the length and width of worms from water buffalo were smaller compared to those from goats following S. japonicum infection for 7 weeks. Besides obvious morphological difference between the schistosomes derived from the two hosts, differences were also observed by scanning and transmission electron microscopy. Microarray analysis showed differentially expressed gene patterns for parasites from the two hosts, which revealed that genes related to lipid and nucleotide metabolism, as well as protein folding, sorting, and degradation were upregulated, while others associated with signal transduction, endocrine function, development, immune function, endocytosis, and amino acid/carbohydrate/glycan metabolism were downregulated in schistosomes from water buffalo. KEGG pathway analysis deduced that the differentially expressed genes mainly involved lipid metabolism, the MAPK and ErbB signaling pathways, progesterone-mediated oocyte maturation, dorso-ventral axis formation, reproduction, and endocytosis, etc. CONCLUSION: The microarray gene analysis in schistosomes derived from water buffalo and goats provide a useful platform to disclose differences determining S. japonicum host compatibility to better understand the interplay between natural hosts and parasites, and identify schistosome target genes associated with susceptibility to screen vaccine candidates.

Influence of the IL6 Gene in Susceptibility to Systemic Sclerosis

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Cenit, M.C.; Simeon, C.P.; Vonk, M.C.; Callejas-Rubio, J.L.; Espinosa, G.; Carreira, P.; Blanco, F.J.; Narvaez, J.; Tolosa, C.; Roman-Ivorra, J.A.; Gomez-Garcia, I.; Garcia-Hernandez, F.J.; Gallego, M.; Garcia-Portales, R.; Egurbide, M.V.; Fonollosa, V.; Garcia de la Pena, P.; Lopez-Longo, F.J.; Gonzalez-Gay, M.A.; The Spanish Scleroderma, G.; Hesselstrand, R.; Riemekasten, G.; Witte, T.J.M. de; Voskuyl, A.E.; Schuerwegh, A.J.; Madhok, R.; Fonseca, C.; Denton, C.; Nordin, A.; Palm, O.; Laar, J.M. van; Hunzelmann, N.; Distler, J.H.; Kreuter, A.; Herrick, A.; Worthington, J.; Koeleman, B.P.; Radstake, T.R.D.J.; Martin, J.

2012-01-01

OBJECTIVE: Systemic sclerosis (SSc) is a genetically complex autoimmune disease; the genetic component has not been fully defined. Interleukin 6 (IL-6) plays a crucial role in immunity and fibrosis, both key aspects of SSc. We investigated the influence of IL6 gene in the susceptibility and

Impact of Aneurysm Projection on Intraoperative Complications During Surgical Clipping of Ruptured Posterior Communicating Artery Aneurysms.

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Fukuda, Hitoshi; Hayashi, Kosuke; Yoshino, Kumiko; Koyama, Takashi; Lo, Benjamin; Kurosaki, Yoshitaka; Yamagata, Sen

2016-03-01

Surgical clipping of ruptured posterior communicating artery (PCoA) aneurysms is a well-established procedure to date. However, preoperative factors associated with procedure-related risk require further elucidation. To investigate the impact of the direction of aneurysm projection on the incidence of procedure-related complications during surgical clipping of ruptured PCoA aneurysms. A total of 65 patients with ruptured PCoA aneurysms who underwent surgical clipping were retrospectively analyzed from a single-center, prospective, observational cohort database in this study. The aneurysms were categorized into lateral and posterior projection groups, depending on direction of the dome. Characteristics and operative findings of each projection group were identified. We also evaluated any correlation of aneurysm projection with the incidence of procedure-related complications. Patients with ruptured PCoA aneurysms with posterior projection more likely presented with good-admission-grade subarachnoid hemorrhage (P = .01, χ test) and were less to also have intracerebral hematoma (P = .01). These aneurysms were found to be associated with higher incidence of intraoperative rupture (P = .02), complex clipping with fenestrated clips (P = .02), and dense adherence to PCoA or its perforators (P = .04) by univariate analysis. Aneurysms with posterior projection were also correlated with procedure-related complications, including postoperative cerebral infarction or hematoma formation (odds ratio, 5.87; 95% confidence interval, 1.11-31.1; P = .04) by multivariable analysis. Ruptured PCoA aneurysms with posterior projection carried a higher risk of procedure-related complications of surgical clipping than those with lateral projection.

Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility.

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Juko-Pecirep, Ivana; Ivansson, Emma L; Gyllensten, Ulf B

2011-08-01

Disrupting the function of any of the 13 Fanconi anaemia (FA) genes causes a DNA repair deficiency disorder, with patients being susceptible to a number of cancer types. Variation in the family of FA genes has been suggested to affect risk of cervical cancer. The current study evaluates the influence of three genes in the FA pathway on cervical cancer risk in Swedish women. TagSNPs in FANCA, FANCC and FANCL were selected using the Tagger algorithm in Haploview. A total of 81 tagSNPs were genotyped in 782 cases (CIN3 or ICC) and 775 controls using the Illumina GoldenGate Assay and statistically analyzed for association with cervical cancer. 72 SNPs were successfully genotyped in >98% of the samples. Nominal associations were detected for FANCA rs11649196 (p=0.05) and rs4128763 in FANCC (p=0.02). The associations did not withstand correction for multiple testing. The current study does not support that genetic variation in FANCA, FANCC or FANCL genes affects susceptibility to cervical cancer in the Swedish population. Copyright © 2011 Elsevier Inc. All rights reserved.

Genetic variations of MMP9 gene and intracerebral hemorrhage susceptibility: a case-control study in Chinese Han population.

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Yang, Jie; Wu, Bo; Lin, Sen; Zhou, Junshan; Li, Yingbin; Dong, Wei; Arima, Hisatomi; Zhang, Chanfei; Liu, Yukai; Liu, Ming

2014-06-15

To investigate the association between genetic variations of matrix metalloproteinase 9 (MMP9) gene and intracerebral hemorrhage (ICH) susceptibility in Chinese Han population. The clinical data and peripheral blood samples from the patients with ICH and hypertension, and controlled subjects with hypertension only, were collected. MassARRAY Analyzer was used to genotype the tagger single nucleotide polymorphism (SNP) of MMP9 gene. Haploview4.2 and Unphased3.1.7 were employed to construct haplotypes and to analyze the association between genetic variations (alleles, genotypes and haplotypes) of MMP9 gene and ICH susceptibility. 181 patients with ICH and hypertension, and 197 patients with hypertension only, were recruited between Sep 2009 and Oct 2010. Patients in the ICH group were younger (61.80 ± 13.27 vs. 72.44 ± 12.71 years, ppopulation. Our logistical regression analysis showed that there were no significant associations between genetic variations of the MPP9 gene and ICH susceptibility (all p>0.05). The genetic variations of MMP9 gene were not significantly associated with ICH susceptibility in the Chinese Han population. Copyright © 2014 Elsevier B.V. All rights reserved.

Rice Yellow Mottle Virus stress responsive genes from susceptible and tolerant rice genotypes

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Siré Christelle

2008-03-01

Full Text Available Abstract Background The effects of viral infection involve concomitant plant gene variations and cellular changes. A simple system is required to assess the complexity of host responses to viral infection. The genome of the Rice yellow mottle virus (RYMV is a single-stranded RNA with a simple organisation. It is the most well-known monocotyledon virus model. Several studies on its biology, structure and phylogeography have provided a suitable background for further genetic studies. 12 rice chromosome sequences are now available and provide strong support for genomic studies, particularly physical mapping and gene identification. Results The present data, obtained through the cDNA-AFLP technique, demonstrate differential responses to RYMV of two different rice cultivars, i.e. susceptible IR64 (Oryza sativa indica, and partially resistant Azucena (O. s. japonica. This RNA profiling provides a new original dataset that will enable us to gain greater insight into the RYMV/rice interaction and the specificity of the host response. Using the SIM4 subroutine, we took the intron/exon structure of the gene into account and mapped 281 RYMV stress responsive (RSR transcripts on 12 rice chromosomes corresponding to 234 RSR genes. We also mapped previously identified deregulated proteins and genes involved in partial resistance and thus constructed the first global physical map of the RYMV/rice interaction. RSR transcripts on rice chromosomes 4 and 10 were found to be not randomly distributed. Seven genes were identified in the susceptible and partially resistant cultivars, and transcripts were colocalized for these seven genes in both cultivars. During virus infection, many concomitant plant gene expression changes may be associated with host changes caused by the infection process, general stress or defence responses. We noted that some genes (e.g. ABC transporters were regulated throughout the kinetics of infection and differentiated susceptible and

Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion

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Fatou K. Ndiaye

2017-06-01

Full Text Available Objectives: Genome-wide association studies (GWAS have identified >100 loci independently contributing to type 2 diabetes (T2D risk. However, translational implications for precision medicine and for the development of novel treatments have been disappointing, due to poor knowledge of how these loci impact T2D pathophysiology. Here, we aimed to measure the expression of genes located nearby T2D associated signals and to assess their effect on insulin secretion from pancreatic beta cells. Methods: The expression of 104 candidate T2D susceptibility genes was measured in a human multi-tissue panel, through PCR-free expression assay. The effects of the knockdown of beta-cell enriched genes were next investigated on insulin secretion from the human EndoC-βH1 beta-cell line. Finally, we performed RNA-sequencing (RNA-seq so as to assess the pathways affected by the knockdown of the new genes impacting insulin secretion from EndoC-βH1, and we analyzed the expression of the new genes in mouse models with altered pancreatic beta-cell function. Results: We found that the candidate T2D susceptibility genes' expression is significantly enriched in pancreatic beta cells obtained by laser capture microdissection or sorted by flow cytometry and in EndoC-βH1 cells, but not in insulin sensitive tissues. Furthermore, the knockdown of seven T2D-susceptibility genes (CDKN2A, GCK, HNF4A, KCNK16, SLC30A8, TBC1D4, and TCF19 with already known expression and/or function in beta cells changed insulin secretion, supporting our functional approach. We showed first evidence for a role in insulin secretion of four candidate T2D-susceptibility genes (PRC1, SRR, ZFAND3, and ZFAND6 with no previous knowledge of presence and function in beta cells. RNA-seq in EndoC-βH1 cells with decreased expression of PRC1, SRR, ZFAND6, or ZFAND3 identified specific gene networks related to T2D pathophysiology. Finally, a positive correlation between the expression of Ins2 and the

Aneurysmal subarachnoid hemorrhage: outcome of aneurysm clipping versus coiling in anterior circulation aneurysm

International Nuclear Information System (INIS)

Wadd, I.H.; Haroon, A.; Ansari, S.

2015-01-01

To compare the neurological outcome of microsurgical clipping versus coiling in patients with anterior circulation aneurysm. Study Design: Comparative study. Place and Duration of Study: Department of Neurosurgery, Lahore General Hospital, Lahore, from January 2010 to December 2013. Methodology: Patients aged 14 - 60 years, with ruptured cerebral aneurysm of anterior circulation and World Federation of Neurosurgical Society (WFNS) grades 1, 2 and 3 were included. Patients more than 60 years, medically unfit patient and posterior circulation aneurysms and WFNS grades 4 and 5 were excluded. Aneurysm sac obliteration was done in randomized manner with microsurgical clipping or coiling. Postoperatively, the patients were assessed and followed-up upto one year for outcome parameters on the bases of WFNS grade and Modified Ranking Scale (mRS) as favourable (mRS =2 ) and unfavourable (mRS > 2). Results: Among 140 subjects selected for study, 70 were included in group A, i.e. coiling and other 70 were in group B, i.e. clipping. The median age of patients in group A was 52.5 ± 10 years and in group B was 51.00 ± years. Overall, 56 (40%) males, 28 (60%) males in each group; and 84 (60%) females, 42 (60%) in each group were included. The male to female ratio in this study was 1:1.5. In group A, i.e. coiling, 27 (38.6%) patients had no disability (grades 1 and 2), 25 (35.7%) were slightly disabled (grade 3) and 18 (25.7%) had moderate disability (grade 4); whereas in group B, i.e. clipping group 23 (32.9%) patients had no disability (grades 1 and 2), 23 (32.9%) were slightly disabled (grade 3) and 24 (34.3%) had moderate disability (grade 4). At one year follow-up, in group A, favourable outcome was achieved in 56 (80%) of patients compared to 48 (68.6%) in group B; whilst, 14 (20%) patients in group A and 22 (33.1%) in group B showed unfavourable outcome. Although mortality rate was higher in clipping (n=3, 4.3%) as compared to coiling (n=1, 1.4%), but was not statistically

Gene Expression Analysis of Plum pox virus (Sharka Susceptibility/Resistance in Apricot (Prunus armeniaca L..

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Manuel Rubio

Full Text Available RNA-Seq has proven to be a very powerful tool in the analysis of the Plum pox virus (PPV, sharka disease/Prunus interaction. This technique is an important complementary tool to other means of studying genomics. In this work an analysis of gene expression of resistance/susceptibility to PPV in apricot is performed. RNA-Seq has been applied to analyse the gene expression changes induced by PPV infection in leaves from two full-sib apricot genotypes, "Rojo Pasión" and "Z506-7", resistant and susceptible to PPV, respectively. Transcriptomic analyses revealed the existence of more than 2,000 genes related to the pathogen response and resistance to PPV in apricot. These results showed that the response to infection by the virus in the susceptible genotype is associated with an induction of genes involved in pathogen resistance such as the allene oxide synthase, S-adenosylmethionine synthetase 2 and the major MLP-like protein 423. Over-expression of the Dicer protein 2a may indicate the suppression of a gene silencing mechanism of the plant by PPV HCPro and P1 PPV proteins. On the other hand, there were 164 genes involved in resistance mechanisms that have been identified in apricot, 49 of which are located in the PPVres region (scaffold 1 positions from 8,050,804 to 8,244,925, which is responsible for PPV resistance in apricot. Among these genes in apricot there are several MATH domain-containing genes, although other genes inside (Pleiotropic drug resistance 9 gene or outside (CAP, Cysteine-rich secretory proteins, Antigen 5 and Pathogenesis-related 1 protein; and LEA, Late embryogenesis abundant protein PPVres region could also be involved in the resistance.

Transcatheter Coil Embolization of Splenic Artery Aneurysm

International Nuclear Information System (INIS)

Yamamoto, Satoshi; Hirota, Shozo; Maeda, Hiroaki; Achiwa, Sachiko; Arai, Keisuke; Kobayashi, Kaoru; Nakao, Norio

2008-01-01

The purpose of this study was to evaluate clinical results and technical problems of transcatheter coil embolization for splenic artery aneurysm. Subjects were 16 patients (8 men, 8 women; age range, 40-80 years) who underwent transcatheter embolization for splenic artery aneurysm (14 true aneurysms, 2 false aneurysms) at one of our hospitals during the period January 1997 through July 2005. Two aneurysms (12.5%) were diagnosed at the time of rupture. Multiple splenic aneurysms were found in seven patients. Aneurysms were classified by site as proximal (or strictly ostial) (n = 3), middle (n = 3), or hilar (n = 10). The indication for transcatheter arterial embolization was a false or true aneurysm 20 mm in diameter. Embolic materials were fibered coils and interlocking detachable coils. Embolization was performed by the isolation technique, the packing technique, or both. Technically, all aneurysms were devascularized without severe complications. Embolized aneurysms were 6-40 mm in diameter (mean, 25 mm). Overall, the primary technical success rate was 88% (14 of 16 patients). In the remaining 2 patients (12.5%), partial recanalization occurred, and re-embolization was performed. The secondary technical success rate was 100%. Seven (44%) of the 16 study patients suffered partial splenic infarction. Intrasplenic branching originating from the aneurysm was observed in five patients. We conclude that transcatheter coil embolization should be the initial treatment of choice for splenic artery aneurysm

Differential susceptibility to maternal expressed emotion in children with ADHD and their siblings? Investigating plasticity genes, prosocial and antisocial behaviour

NARCIS (Netherlands)

Richards, Jennifer S; Hartman, Catharina A; Franke, Barbara; Hoekstra, Pieter J; Heslenfeld, Dirk J; Oosterlaan, Jaap; Arias Vásquez, Alejandro; Buitelaar, Jan K

The differential susceptibility theory states that children differ in their susceptibility towards environmental experiences, partially due to plasticity genes. Individuals carrying specific variants in such genes will be more disadvantaged in negative but, conversely, more advantaged in positive

Primary extracranial vertebral artery aneurysms.

Science.gov (United States)

Morasch, Mark D; Phade, Sachin V; Naughton, Peter; Garcia-Toca, Manuel; Escobar, Guillermo; Berguer, Ramon

2013-05-01

Extracranial vertebral artery aneurysms are uncommon and are usually associated with trauma or dissection. Primary cervical vertebral aneurysms are even rarer and are not well described. The presentation and natural history are unknown and operative management can be difficult. Accessing aneurysms at the skull base can be difficult and, because the frail arteries are often afflicted with connective tissue abnormalities, direct repair can be particularly challenging. We describe the presentation and surgical management of patients with primary extracranial vertebral artery aneurysms. In this study we performed a retrospective, multi-institutional review of patients with primary aneurysms within the extracranial vertebral artery. Between January 2000 and January 2011, 7 patients, aged 12-56 years, were noted to have 9 primary extracranial vertebral artery aneurysms. All had underlying connective tissue or another hereditary disorder, including Ehler-Danlos syndrome (n=3), Marfan's disease (n=2), neurofibromatosis (n=1), and an unspecified connective tissue abnormality (n=1). Eight of 9 aneurysms were managed operatively, including an attempted bypass that ultimately required vertebral ligation; the contralateral aneurysm on this patient has not been treated. Open interventions included vertebral bypass with vein, external carotid autograft, and vertebral transposition to the internal carotid artery. Special techniques were used for handling the anastomoses in patients with Ehler-Danlos syndrome. Although endovascular exclusion was not performed in isolation, 2 hybrid procedures were performed. There were no instances of perioperative stroke or death. Primary extracranial vertebral artery aneurysms are rare and occur in patients with hereditary disorders. Operative intervention is warranted in symptomatic patients. Exclusion and reconstruction may be performed with open and hybrid techniques with low morbidity and mortality. Copyright © 2013 Elsevier Inc. All rights

MR angiography of cerebral aneurysms

International Nuclear Information System (INIS)

Miki, Hitoshi; Tanada, Shuji; Sakaki, Saburo; Hamamoto, Ken; Sadamoto, Kazuhiko.

1992-01-01

Time-of-flight (TOF) MR angiography (MRA) and phase-contrast (PC) MRA are examined clinically for evaluating cerebral aneurysms. In the morphological diagnosis of cerebral aneurysms, three-dimensional (3D) MRA is superior to two-dimensional (2D) MRA because 3D MRA has a higher S/N ratio and a higher spatial resolution. However, it is difficult to decide which, 3D TOF MRA or 3D PC MRA, is superior, for both methods have many scan parameters. In our study, 3D PC MRA was performed using two methods; one had the same acquisition time as 3D TOF MRA, while the other had the same spatial resolution as 3D TOF MRA. The detectability of aneurysms by each MRA method was evaluated in comparison with 3D TOF MRA. In fifteen patients (6 males and 9 females), a total of 16 cerebral aneurysms (3 ruptured and 13 unruptured) were studied. The lesion sizes ranged from 2.5 to 18 mm. All the 16 lesions were examined by means of 3D TOF MRA, 3D PC MRA, and conventional angiography. MR imaging was performed with a 1.5 tesla MRI system (Signa). All of the 16 cerebral aneurysms were detected by 3D TOF MRA, while only 11 of them were detected by 3D PC MRA. When 3D PC MRA was performed with the same acquisition time as 3D TOF MRA, 3D PC MRA was superior in showing one of the 7 aneurysms. When 3D PC MRA was performed with same spatial resolution as 3D TOF MRA, 3D PC MRA was superior in showing two of the 10 aneurysms. 3D TOF MRA was superior to 3D PC MRA in the detection of cerebral aneurysms because of the long acquisition times and the different flow velocity, which induced different signal intensities between the aneurysms and parent arteries in 3D PC MRA. 3D PC MRA was superior to 3D TOF MRA in patients with large thrombotic aneurysms of the internal carotid artery. We consider that 3D TOF MRA should be the first choice for screening and following-up cerebral aneurysms. 3D PC MRA should then be performed for large cerebral aneurysms in addition to 3D TOF MRA. (author)

The SH2D2A gene and susceptibility to multiple sclerosis

DEFF Research Database (Denmark)

Lorentzen, A.R.; Smestad, C.; Lie, B.A.

2008-01-01

We previously reported an association between the SH2D2A gene encoding TSAd and multiple sclerosis (MS). Here a total of 2128 Nordic MS patients and 2004 controls were genotyped for the SH2D2A promoter GA repeat polymorphism and rs926103 encoding a serine to asparagine substitution at amino acid...... that the SH2D2A gene may contribute to susceptibility to MS Udgivelsesdato: 2008/7/15...

Genome-wide local ancestry approach identifies genes and variants associated with chemotherapeutic susceptibility in African Americans.

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Heather E Wheeler

Full Text Available Chemotherapeutic agents are used in the treatment of many cancers, yet variable resistance and toxicities among individuals limit successful outcomes. Several studies have indicated outcome differences associated with ancestry among patients with various cancer types. Using both traditional SNP-based and newly developed gene-based genome-wide approaches, we investigated the genetics of chemotherapeutic susceptibility in lymphoblastoid cell lines derived from 83 African Americans, a population for which there is a disparity in the number of genome-wide studies performed. To account for population structure in this admixed population, we incorporated local ancestry information into our association model. We tested over 2 million SNPs and identified 325, 176, 240, and 190 SNPs that were suggestively associated with cytarabine-, 5'-deoxyfluorouridine (5'-DFUR-, carboplatin-, and cisplatin-induced cytotoxicity, respectively (p≤10(-4. Importantly, some of these variants are found only in populations of African descent. We also show that cisplatin-susceptibility SNPs are enriched for carboplatin-susceptibility SNPs. Using a gene-based genome-wide association approach, we identified 26, 11, 20, and 41 suggestive candidate genes for association with cytarabine-, 5'-DFUR-, carboplatin-, and cisplatin-induced cytotoxicity, respectively (p≤10(-3. Fourteen of these genes showed evidence of association with their respective chemotherapeutic phenotypes in the Yoruba from Ibadan, Nigeria (p<0.05, including TP53I11, COPS5 and GAS8, which are known to be involved in tumorigenesis. Although our results require further study, we have identified variants and genes associated with chemotherapeutic susceptibility in African Americans by using an approach that incorporates local ancestry information.

Morphological parameters associated with ruptured posterior communicating aneurysms.

Science.gov (United States)

Ho, Allen; Lin, Ning; Charoenvimolphan, Nareerat; Stanley, Mary; Frerichs, Kai U; Day, Arthur L; Du, Rose

2014-01-01

The rupture risk of unruptured intracranial aneurysms is known to be dependent on the size of the aneurysm. However, the association of morphological characteristics with ruptured aneurysms has not been established in a systematic and location specific manner for the most common aneurysm locations. We evaluated posterior communicating artery (PCoA) aneurysms for morphological parameters associated with aneurysm rupture in that location. CT angiograms were evaluated to generate 3-D models of the aneurysms and surrounding vasculature. Univariate and multivariate analyses were performed to evaluate morphological parameters including aneurysm volume, aspect ratio, size ratio, distance to ICA bifurcation, aneurysm angle, vessel angles, flow angles, and vessel-to-vessel angles. From 2005-2012, 148 PCoA aneurysms were treated in a single institution. Preoperative CTAs from 63 patients (40 ruptured, 23 unruptured) were available and analyzed. Multivariate logistic regression revealed that smaller volume (p = 0.011), larger aneurysm neck diameter (0.048), and shorter ICA bifurcation to aneurysm distance (p = 0.005) were the most strongly associated with aneurysm rupture after adjusting for all other clinical and morphological variables. Multivariate subgroup analysis for patients with visualized PCoA demonstrated that larger neck diameter (p = 0.018) and shorter ICA bifurcation to aneurysm distance (p = 0.011) were significantly associated with rupture. Intracerebral hemorrhage was associated with smaller volume, larger maximum height, and smaller aneurysm angle, in addition to lateral projection, male sex, and lack of hypertension. We found that shorter ICA bifurcation to aneurysm distance is significantly associated with PCoA aneurysm rupture. This is a new physically intuitive parameter that can be measured easily and therefore be readily applied in clinical practice to aid in the evaluation of patients with PCoA aneurysms.

Hereditary cancer genes are highly susceptible to splicing mutations

Science.gov (United States)

Soemedi, Rachel; Maguire, Samantha; Murray, Michael F.; Monaghan, Sean F.

2018-01-01

Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations mapping to the canonical 5′ and 3′ splice sites. However, splicing mutations present in exons and deeper intronic positions are vastly underreported. A recent re-analysis of coding mutations in exon 10 of the Lynch Syndrome gene, MLH1, revealed an extremely high rate (77%) of mutations that lead to defective splicing. This finding is confirmed by extending the sampling to five other exons in the MLH1 gene. Further analysis suggests a more general phenomenon of defective splicing driving Lynch Syndrome. Of the 36 mutations tested, 11 disrupted splicing. Furthermore, analyzing past reports suggest that MLH1 mutations in canonical splice sites also occupy a much higher fraction (36%) of total mutations than expected. When performing a comprehensive analysis of splicing mutations in human disease genes, we found that three main causal genes of Lynch Syndrome, MLH1, MSH2, and PMS2, belonged to a class of 86 disease genes which are enriched for splicing mutations. Other cancer genes were also enriched in the 86 susceptible genes. The enrichment of splicing mutations in hereditary cancers strongly argues for additional priority in interpreting clinical sequencing data in relation to cancer and splicing. PMID:29505604

Hereditary cancer genes are highly susceptible to splicing mutations.

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Christy L Rhine

2018-03-01

Full Text Available Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations mapping to the canonical 5' and 3' splice sites. However, splicing mutations present in exons and deeper intronic positions are vastly underreported. A recent re-analysis of coding mutations in exon 10 of the Lynch Syndrome gene, MLH1, revealed an extremely high rate (77% of mutations that lead to defective splicing. This finding is confirmed by extending the sampling to five other exons in the MLH1 gene. Further analysis suggests a more general phenomenon of defective splicing driving Lynch Syndrome. Of the 36 mutations tested, 11 disrupted splicing. Furthermore, analyzing past reports suggest that MLH1 mutations in canonical splice sites also occupy a much higher fraction (36% of total mutations than expected. When performing a comprehensive analysis of splicing mutations in human disease genes, we found that three main causal genes of Lynch Syndrome, MLH1, MSH2, and PMS2, belonged to a class of 86 disease genes which are enriched for splicing mutations. Other cancer genes were also enriched in the 86 susceptible genes. The enrichment of splicing mutations in hereditary cancers strongly argues for additional priority in interpreting clinical sequencing data in relation to cancer and splicing.

T-cell receptor variable genes and genetic susceptibility to celiac disease: an association and linkage study.

Science.gov (United States)

Roschmann, E; Wienker, T F; Gerok, W; Volk, B A

1993-12-01

Genetic susceptibility of celiac disease is primarily associated with a particular combination of and HLA-DQA1/DQB1 gene; however, this does not fully account for the genetic predisposition. Therefore, the aim of this study was to examine whether T-cell receptor (TCR) genes may be susceptibility genes in celiac disease. HLA class II typing was performed by polymerase chain reaction amplification in combination with sequence-specific oligonucleotide hybridization. TCR alpha (TCRA), TCR gamma (TCRG), and TCR beta (TCRB) loci were investigated by restriction fragment length polymorphism analysis. Allelic frequencies of TCRA, TCRG, and TCRB variable genes were compared between patients with celiac disease (n = 53) and control patients (n = 67), and relative risk (RR) estimates were calculated. The RR was 1.67 for allele C1 at TCRA1, 3.35 for allele D2 at TCRA2, 1.66 for allele B2 at TCRG, and 1.35 for allele B at TCRB, showing no significant association. Additionally, linkage analysis was performed in 23 families. The logarithm of odd scores for celiac disease vs. the TCR variable genes at TCRA, TCRG, and TCRB showed no significant linkage. These data suggest that the analyzed TCR variable gene segments V alpha 1.2, V gamma 11, and V beta 8 do not play a major role in susceptibility to celiac disease.

Symptomatic unruptured cerebral aneurysms. Features and surgical outcome

International Nuclear Information System (INIS)

Date, Isao

2010-01-01

Development of less invasive imaging studies, such as magnetic resonance angiography, has increased the chances that unruptured cerebral aneurysms are found. The rupture risk of 'symptomatic' aneurysms is higher than for 'asymptomatic' aneurysms; so 'symptomatic' aneurysms are more often surgically treated. Many reviews examine 'asymptomatic' unruptured cerebral aneurysms, but few evaluate 'symptomatic' aneurysms. The author has treated many patients with symptomatic unruptured cerebral aneurysms and found that improved cranial nerve signs can be expected if the surgical treatment is performed before the symptoms become irreversible; the critical period is approximately 3 months. It is important to suppress the pulsation of the aneurysms compressing the cranial nerves; both a clipping procedure and endovascular coiling are effective. Cranial nerve signs are more commonly the symptoms of unruptured cerebral aneurysms, but large to giant aneurysms can also be the causes of hemiparesis, hydrocephalus, epilepsy, or even cerebral infarction. This review summarizes the features and surgical outcome of symptomatic unruptured cerebral aneurysms. (author)

Multilocus analysis reveals three candidate genes for Chinese migraine susceptibility.

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An, X-K; Fang, J; Yu, Z-Z; Lin, Q; Lu, C-X; Qu, H-L; Ma, Q-L

2017-08-01

Several genome-wide association studies (GWASs) in Caucasian populations have identified 12 loci that are significantly associated with migraine. More evidence suggests that serotonin receptors are also involved in migraine pathophysiology. In the present study, a case-control study was conducted in a cohort of 581 migraine cases and 533 ethnically matched controls among a Chinese population. Eighteen polymorphisms from serotonin receptors and GWASs were selected, and genotyping was performed using a Sequenom MALDI-TOF mass spectrometry iPLEX platform. The genotypic and allelic distributions of MEF2D rs2274316 and ASTN2 rs6478241 were significantly different between migraine patients and controls. Univariate and multivariate analysis revealed significant associations of polymorphisms in the MEF2D and ASTN2 genes with migraine susceptibility. MEF2D, PRDM16 and ASTN2 were also found to be associated with migraine without aura (MO) and migraine with family history. And, MEF2D and ASTN2 also served as genetic risk factors for the migraine without family history. The generalized multifactor dimensionality reduction analysis identified that MEF2D and HTR2E constituted the two-factor interaction model. Our study suggests that the MEF2D, PRDM16 and ASTN2 genes from GWAS are associated with migraine susceptibility, especially MO, among Chinese patients. It appears that there is no association with serotonin receptor related genes. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

High Frequency of Interactions between Lung Cancer Susceptibility Genes in the Mouse : Mapping of Sluc5 to Sluc14

NARCIS (Netherlands)

Fijneman, Remond J.A.; Jansen, Ritsert C.; Valk, Martin A. van der; Demant, Peter

1998-01-01

Although several genes that cause monogenic familial cancer syndromes have been identified, susceptibility to sporadic cancer remains unresolved. Animal experiments have demonstrated multigenic control of tumor susceptibility. Recently, we described four mouse lung cancer susceptibility (Sluc) loci,

Effects of disruption of heat shock genes on susceptibility of Escherichia coli to fluoroquinolones

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Morioka Mizue

2003-08-01

Full Text Available Abstract Background It is well known that expression of certain bacterial genes responds rapidly to such stimuli as exposure to toxic chemicals and physical agents. It is generally believed that the proteins encoded in these genes are important for successful survival of the organism under the hostile conditions. Analogously, the proteins induced in bacterial cells exposed to antibiotics are believed to affect the organisms' susceptibility to these agents. Results We demonstrated that Escherichia coli cells exposed to levofloxacin (LVFX, a fluoroquinolone (FQ, induce the syntheses of heat shock proteins and RecA. To examine whether the heat shock proteins affect the bactericidal action of FQs, we constructed E. coli strains with mutations in various heat shock genes and tested their susceptibility to FQs. Mutations in dnaK, groEL, and lon increased this susceptibility; the lon mutant exhibited the greatest effects. The increased susceptibility of the lon mutant was corroborated by experiments in which the gene encoding the cell division inhibitor, SulA, was subsequently disrupted. SulA is induced by the SOS response and degraded by the Lon protease. The findings suggest that the hypersusceptibility of the lon mutant to FQs could be due to abnormally high levels of SulA protein resulting from the depletion of Lon and the continuous induction of the SOS response in the presence of FQs. Conclusion The present results show that the bactericidal action of FQs is moderately affected by the DnaK and GroEL chaperones and strongly affected by the Lon protease. FQs have contributed successfully to the treatment of various bacterial infections, but their widespread use and often misuse, coupled with emerging resistance, have gradually compromised their utility. Our results suggest that agents capable of inhibiting the Lon protease have potential for combination therapy with FQs.

Combined treatment for complex intracranial aneurysm

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Chiriac A.

2015-06-01

Full Text Available Complex aneurysms often cannot be completely excluded by a single approaches. Today successful treatment of these lesions requires a combination between microsurgical and endovascular techniques. Planning of combined treatment require a very good understanding of aneurysm anatomy and a close collaboration between neurosurgeon and neuroendovascular interventionist. Endovascular coiling can usually be used as early treatment for a partially aneurysm occlusion including the ruptured area and followed by definitive clipping. On the other hand microsurgical clipping also can be used as first treatment for complex aneurysm neck reconstruction, allowing successful secondary placement of coils inside the remnant aneurysm sac

Giant true celiac artery aneurysm

International Nuclear Information System (INIS)

Aljabri, Badr

2009-01-01

Celiac artery aneurysms are rare and usually asymptomatic. The management of these aneurysms is challenging, especially when they are large and involve the confluence of the trifurcation. We present here a case of a large celiac artery aneurysm involving its branches in a young woman. Preoperative investigations, intraoperative findings, and the operative procedure are also presented and discussed. (author

Early Enlargement of Aneurysmal Sac and Separation of EndoBags of Nellix Endovascular Aneurysm Sealing System as Signs of Increased Risk of Later Aneurysm Rupture

Energy Technology Data Exchange (ETDEWEB)

Cheng, Lik Fai, E-mail: rickieclf@yahoo.com.hk [Princess Margaret Hospital, Department of Radiology (China); Cheung, Kwok Fai; Chan, Kwong Man [Princess Margaret Hospital, Department of Surgery (China); Ma, Johnny Ka Fai; Luk, Wing Hang [Princess Margaret Hospital, Department of Radiology (China); Chan, Micah Chi King [Princess Margaret Hospital, Department of Surgery (China); Ng, Carol Wing Kei; Mahboobani, Neeraj Ramesh [Princess Margaret Hospital, Department of Radiology (China); Ng, Wai Kin [Princess Margaret Hospital, Department of Surgery (China); Wong, Ting [Princess Margaret Hospital, Department of Radiology (China)

2016-11-15

Nellix Endovascular Aneurysm Sealing (EVAS) system is a new concept and technology of abdominal aortic aneurysm (AAA) repair. Elective EVAS using Nellix device was performed for a 83-year-old man with AAA. 2-month post-EVAS CTA surveillance demonstrated mild enlargement of aneurysmal sac and separation of the EndoBags, but without detectable endoleak. The patient developed sudden AAA rupture with retroperitoneal hematoma at about 4 months after EVAS. We postulated that early enlargement of aneurysmal sac and separation of EndoBags of Nellix devices after EVAS, even without detectable endoleak, might indicate significant aneurysmal wall weakening with increased risk of later AAA rupture. To the best of the authors’ knowledge, this was the first reported case of aortic rupture after EVAS without detectable endoleak during and after the procedure.

Early Enlargement of Aneurysmal Sac and Separation of EndoBags of Nellix Endovascular Aneurysm Sealing System as Signs of Increased Risk of Later Aneurysm Rupture

International Nuclear Information System (INIS)

Cheng, Lik Fai; Cheung, Kwok Fai; Chan, Kwong Man; Ma, Johnny Ka Fai; Luk, Wing Hang; Chan, Micah Chi King; Ng, Carol Wing Kei; Mahboobani, Neeraj Ramesh; Ng, Wai Kin; Wong, Ting

2016-01-01

Nellix Endovascular Aneurysm Sealing (EVAS) system is a new concept and technology of abdominal aortic aneurysm (AAA) repair. Elective EVAS using Nellix device was performed for a 83-year-old man with AAA. 2-month post-EVAS CTA surveillance demonstrated mild enlargement of aneurysmal sac and separation of the EndoBags, but without detectable endoleak. The patient developed sudden AAA rupture with retroperitoneal hematoma at about 4 months after EVAS. We postulated that early enlargement of aneurysmal sac and separation of EndoBags of Nellix devices after EVAS, even without detectable endoleak, might indicate significant aneurysmal wall weakening with increased risk of later AAA rupture. To the best of the authors’ knowledge, this was the first reported case of aortic rupture after EVAS without detectable endoleak during and after the procedure.

Interobserver variability in the assessment of aneurysm occlusion with the WEB aneurysm embolization system.

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Fiorella, David; Arthur, Adam; Byrne, James; Pierot, Laurent; Molyneux, Andy; Duckwiler, Gary; McCarthy, Thomas; Strother, Charles

2015-08-01

The WEB (WEB aneurysm embolization system, Sequent Medical, Aliso Viejo, California, USA) is a self-expanding, nitinol, mesh device designed to achieve aneurysm occlusion after endosaccular deployment. The WEB Occlusion Scale (WOS) is a standardized angiographic assessment scale for reporting aneurysm occlusion achieved with intrasaccular mesh implants. This study was performed to assess the interobserver variability of the WOS. Seven experienced neurovascular specialists were trained to apply the WOS. These physicians independently reviewed angiographic image sets from 30 patients treated with the WEB under blinded conditions. No additional clinical information was provided. Raters graded each image according to the WOS (complete occlusion, residual neck or residual aneurysm). Final statistics were calculated using the dichotomous outcomes of complete occlusion or incomplete occlusion. The interobserver agreement was measured by the generalized κ statistic. In this series of 30 test case aneurysms, observers rated 12-17 as completely occluded, 3-9 as nearly completely occluded, and 9-11 as demonstrating residual aneurysm filling. Agreement was perfect across all seven observers for the presence or absence of complete occlusion in 22 of 30 cases. Overall, interobserver agreement was substantial (κ statistic 0.779 with a 95% CI of 0.700 to 0.857). The WOS allows a consistent means of reporting angiographic occlusion for aneurysms treated with the WEB device. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Tobacco smoking and aortic aneurysm

DEFF Research Database (Denmark)

Sode, Birgitte F; Nordestgaard, Børge; Grønbæk, Morten

2013-01-01

BACKGROUND: We determined the predictive power of tobacco smoking on aortic aneurysm as opposed to other risk factors in the general population. METHODS: We recorded tobacco smoking and other risk factors at baseline, and assessed hospitalization and death from aortic aneurysm in 15,072 individuals...... aneurysm in males and females consuming above 20g tobacco daily was 3.5% and 1.3%, among those >60years with plasma cholesterol >5mmol/L and a systolic blood pressure >140mmHg. CONCLUSIONS: Tobacco smoking is the most important predictor of future aortic aneurysm outcomes in the general population...

Patient- and Aneurysm-Specific Risk Factors for Intracranial Aneurysm Growth : A Systematic Review and Meta-Analysis

NARCIS (Netherlands)

Backes, Daan; Rinkel, Gabriel J E; Laban, Kamil G.; Algra, Ale; Vergouwen, Mervyn D I

2016-01-01

BACKGROUND AND PURPOSE—: Follow-up imaging is often performed in intracranial aneurysms that are not treated. We performed a systematic review and meta-analysis on patient- and aneurysm-specific risk factors for aneurysm growth. METHODS—: We searched EMBASE and MEDLINE for cohort studies describing

Retrospective analysis of the prevalence of asymptomatic cerebral aneurysm in 4518 patients undergoing magnetic resonance angiography. When does cerebral aneurysm develop?

International Nuclear Information System (INIS)

Horikoshi, Toru; Yamagata, Zentaro; Nukui, Hideaki; Akiyama, Iwao

2002-01-01

The natural history of cerebral aneurysms was investigated by measuring the prevalence of incidentally found unruptured aneurysms in the general population and evaluating the characteristics including risk factors. 'De novo' formation of aneurysm was also demographically estimated. The prevalence of incidental aneurysm was evaluated among 4518 patients who underwent magnetic resonance (MR) angiography for various reasons in a neurosurgical institute. Double the number of patients were randomly selected from the remaining patients without aneurysm as the Control group so that sex and age group were matched to the Aneurysm group. One hundred twenty seven patients (2.8%) had diagnoses of aneurysm. The prevalence of asymptomatic aneurysm among middle-aged and elderly patients were predominant in women and increased with age in both sexes. Patients with aneurysms had significantly more hypertension and family history of subarachnoid hemorrhage compared to the controls. The prevalence was markedly increased in the 8th decade in men and the 7th decade in women, and new aneurysms seemed to develop predominantly around these decades. Cerebral aneurysms become detectable on MR angiography in the middle or later decades, and women tend to develop aneurysm earlier than men. Hypertension and family history of subarachnoid hemorrhage are probably risk factors for the development of aneurysm. (author)

Asthma susceptible genes in Chinese population: A meta-analysis

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He Chao

2010-09-01

Full Text Available Abstract Background Published data regarding the associations between genetic variants and asthma risk in Chinese population were inconclusive. The aim of this study was to investigate asthma susceptible genes in Chinese population. Methods The authors conducted 18 meta-analyzes for 18 polymorphisms in 13 genes from eighty-two publications. Results Seven polymorphisms were found being associated with risk of asthma, namely: A Disintegrin and Metalloprotease 33 (ADAM33 T1-C/T (odds ratio [OR] = 6.07, 95% confidence interval [CI]: 2.69-13.73, Angiotensin-Converting Enzyme (ACE D/I (OR = 3.85, 95%CI: 2.49-5.94, High-affinity IgE receptor β chain (FcεRIβ -6843G/A (OR = 1.49, 95%CI: 1.01-2.22, Interleukin 13(IL-13 -1923C/T (OR = 2.99, 95%CI: 2.12-4.24, IL-13 -2044A/G (OR = 1.49, 95%CI: 1.07-2.08, Regulated upon Activation, Normal T cell Expressed and Secreted (RANTES -28C/G (OR = 1.64, 95%CI: 1.09-2.46, Tumor Necrosis Factor-α (TNF-α -308G/A(OR = 1.42, 95%CI: 1.09, 1.85. After subgroup analysis by age, the ACE D/I, β2-Adrenergic Receptor (β2-AR -79G/C, TNF-α -308G/A, Interleukin 4 receptor(IL-4R -1902G/A and IL-13 -1923C/T polymorphisms were found significantly associated with asthma risk in Chinese children. In addition, the ACE D/I, FcεRIβ -6843G/A, TNF-α -308G/A, IL-13 -1923C/T and IL-13 -2044A/G polymorphisms were associated with asthma risk in Chinese adults. Conclusion ADAM33, FcεRIβ, RANTES, TNF-α, ACE, β2-AR, IL-4R and IL-13 genes could be proposed as asthma susceptible genes in Chinese population. Given the limited number of studies, more data are required to validate these associations.

The role of inflammation in cerebral aneurysms

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Ali H Turkmani

2015-06-01

Full Text Available The natural history of unruptured intracranial aneurysms (IAs is poorly understood. At present, risk factors for aneurysm rupture are limited to demographics and rudimentary anatomic features of the aneurysm. The first sign of aneurysm destabilization and rupture may be subarachnoid hemorrhage, a potentially devastating brain injury with high morbidity and mortality. An emerging body of literature suggests a complex inflammatory cascade likely promotes aneurysm wall remodeling and progressive ballooning of the arterial wall, ultimately terminating in aneurysm rupture. These events likely begin with hemodynamic, flow-related endothelial injury; the injured endothelium stimulates inflammation, including the recruitment and transmigration of inflammatory cells, particularly macrophages. Various proteases are secreted by the inflammatory infiltrate, resulting in degradation of the extracellular matrix and the structural changes unique to IAs. Detailed understanding of these inflammatory processes may result in (1 early identification of patients at high risk for aneurysm rupture, perhaps via arterial wall imaging, and (2 targeted, noninvasive therapies to treat or even prevent cerebral aneurysms.

Analysis of metal and biocides resistance genes in drug resistance and susceptible Salmonella enterica from food animals

Science.gov (United States)

Background Generally drug resistant bacteria carry antibiotic resistance genes and heavy metal and biocide resistance genes on large conjugative plasmids. The presence of these metal and biocide resistance genes in susceptible bacteria are not assessed comprehensively. Hence, WGS data of susceptib...

Epstein-Barr virus-induced gene 3 (EBI3) polymorphisms and expression are associated with susceptibility to pulmonary tuberculosis.

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Zheng, Ruijuan; Liu, Haipeng; Song, Peng; Feng, Yonghong; Qin, Lianhua; Huang, Xiaochen; Chen, Jianxia; Yang, Hua; Liu, Zhonghua; Cui, Zhenglin; Hu, Zhongyi; Ge, Baoxue

2015-07-01

Tuberculosis (TB) remains a major global health problem and host genetic factors play a critical role in susceptibility and resistance to TB. The aim of this study was to identify novel candidate genes associated with TB susceptibility. We performed a population-based case-control study to genotype 13 tag SNPs spanning Epstein-Barr virus-induced gene 3 (EBI3), colony stimulating factor 2 (CSF2), IL-4, interferon beta 1 (IFNB1), chemokine (C-X-C motif) ligand 14 (CXCL14) and myeloid differentiation primary response gene 88 (Myd88) genes in 435 pulmonary TB patients and 375 health donors from China. We observed that EBI3 gene rs4740 polymorphism was associated with susceptibility to pulmonary tuberculosis (PTB) and the allele G was associated with a protective effect against PTB. Furthermore, EBI3 deficiency led to reduced bacterial burden and histopathological impairment in the lung of mice infected with Mycobacterium bovis BCG. Meanwhile, higher abundance of EBI3 was observed in the granuloma of PTB patients and in the lung tissue of BCG-infected mice. Of note, the expression of EBI3 in macrophages was remarkably induced by mycobacteria infection at both mRNA and protein level. In conclusion, EBI3 gene rs4740 polymorphism is closely associated with susceptibility to PTB and the elevation and enrichment of EBI3 in the lung which at least partially derived from macrophages may contribute to the exacerbation of mycobacterial infection. Copyright © 2015 Elsevier Ltd. All rights reserved.

Surgical management of recurrent intracranial aneurysms after embolization

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Hua-wei WANG

2015-03-01

Full Text Available Background Endovascular therapy is the first treatment choice for intracranial aneurysms currently, but it has a high recurrence rate. Some patients require surgical clipping because of the difficulty of re-embolization. This study retrospectively analyzed the clinical data of 11 cases who underwent clipping operation because of the recurrence after endovascular therapy. Combining with domestic and foreign related literatures, this paper discusses the principles and techniques of surgical treatment for recurrent aneurysms.  Methods There were a total of 11 patients with 12 recurrent aneurysms after embolization, including 3 anterior communicating artery (ACoA aneurysms, 3 middle cerebral artery (MCA aneurysms, 2 posterior communicating artery (PCoA aneurysms, one anterior cerebral artery (ACA aneurysm, one vertebral artery (VA aneurysm, one basilar tip aneurysm and one superior cerebellar artery (SCA aneurysm. There were 7 small aneurysms and 4 large aneurysms. All patients underwent surgical clipping under microscope. After operation, 11 aneurysms were complete clipped, and one was proximally blocked. The coils were reserved in 7 aneurysms, and were removed or partially removed in 5 aneurysms.  Results All patients were followed up for an average of 22 months after surgery. There were 9 cases (9/11 with the Glasgow Outcome Scale (GOS score improved or remaining unchanged compared with preoperation. One of them presented left limb weakness after operation, with the muscle strength Grade 3, while recovered to Grade 4-5 on discharge. The other 2 patients died after surgery. One case had a critical condition before surgery, and the other was secondary to thrombosis and pneumonia. Both of them had a GOS score of 2 when discharged, and died after discharge.  Conclusions There is high surgical difficulty in recurrent aneurysms, however, with adequate preoperative evaluation and surgical design, it can still promise safe and effective results

Ruptured gastroepiploic artery aneurysm: A case report

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Ahmad S. Ashrafi

Full Text Available Introduction: Gastroepiploic artery aneurysms are extremely rare, with few reported cases in the literature. The risk of rupture however, is high and thus warrants attention. Presentation of case: Here we present a rare case of a women who presented to the emergency department in shock and was found to have a ruptured gastroepiploic artery aneurysm during surgical exploration. Suture ligation of the aneurysm was completed. Discussion: Although rare, gastroepiploic artery aneurysms have up to a 90% rate of rupture and therefore require intervention. A laparoscopic approach has been described however, in cases where rupture has occurred, urgent laparotomy and control of hemorrhage is needed. Conclusion: We describe a rare case of a ruptured gastroepiploic aneurysm that was successfully managed with urgent laparotomy and aneurysmal resection. Keywords: Gastroepiploic, Aneurysm, Hemorrhage, Case report

Intra-aneurysmal flow disruption after implantation of the Medina® Embolization Device depends on aneurysm neck coverage.

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Frölich, Andreas Maximilian; Nawka, Marie Teresa; Ernst, Marielle; Frischmuth, Isabell; Fiehler, Jens; Buhk, Jan-Hendrik

2018-01-01

Flow disruption achieved by braided intrasaccular implants is a novel treatment strategy for cerebrovascular aneurysms. We hypothesized that the degree of intra-aneurysmal flow disruption can be quantified in vitro and is influenced by device position across the aneurysm neck. We tested this hypothesis using the Medina® Embolization Device (MED). Ten different patient-specific elastic vascular models were manufactured. Models were connected to a pulsatile flow circuit, filled with a blood-mimicking fluid and treated by two operators using a single MED. Intra-aneurysmal flow velocity was measured using conventional and high-frequency digital subtraction angiography (HF-DSA) before and after each deployment. Aneurysm neck coverage by the implanted devices was assessed with flat detector computed tomography on a three-point Likert scale. A total of 80 individual MED deployments were performed by the two operators. The mean intra-aneurysmal flow velocity reduction after MED implantation was 33.6% (27.5-39.7%). No significant differences in neck coverage (p = 0.99) or flow disruption (p = 0.84) were observed between operators. The degree of flow disruption significantly correlated with neck coverage (ρ = 0.42, 95% CI: 0.21-0.59, p = 0.002) as well as with neck area (ρ = -0,35, 95% CI: -0.54 --0.13, p = 0.024). On multiple regression analysis, both neck coverage and total neck area were independent predictors of flow disruption. The degree of intra-aneurysmal flow disruption after MED implantation can be quantified in vitro and varies considerably between different aneurysms and different device configurations. Optimal device coverage across the aneurysm neck improves flow disruption and may thus contribute to aneurysm occlusion.

Transcription factor SP4 is a susceptibility gene for bipolar disorder.

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Xianjin Zhou

Full Text Available The Sp4 transcription factor plays a critical role for both development and function of mouse hippocampus. Reduced expression of the mouse Sp4 gene results in a variety of behavioral abnormalities relevant to human psychiatric disorders. The human SP4 gene is therefore examined for its association with both bipolar disorder and schizophrenia in European Caucasian and Chinese populations respectively. Out of ten SNPs selected from human SP4 genomic locus, four displayed significant association with bipolar disorder in European Caucasian families (rs12668354, p = 0.022; rs12673091, p = 0.0005; rs3735440, p = 0.019; rs11974306, p = 0.018. To replicate the genetic association, the same set of SNPs was examined in a Chinese bipolar case control sample. Four SNPs displayed significant association (rs40245, p = 0.009; rs12673091, p = 0.002; rs1018954, p = 0.001; rs3735440, p = 0.029, and two of them (rs12673091, rs3735440 were shared with positive SNPs from European Caucasian families. Considering the genetic overlap between bipolar disorder and schizophrenia, we extended our studies in Chinese trios families for schizophrenia. The SNP7 (rs12673091, p = 0.012 also displayed a significant association. The SNP7 (rs12673091 was therefore significantly associated in all three samples, and shared the same susceptibility allele (A across all three samples. On the other hand, we found a gene dosage effect for mouse Sp4 gene in the modulation of sensorimotor gating, a putative endophenotype for both schizophrenia and bipolar disorder. The deficient sensorimotor gating in Sp4 hypomorphic mice was partially reversed by the administration of dopamine D2 antagonist or mood stabilizers. Both human genetic and mouse pharmacogenetic studies support Sp4 gene as a susceptibility gene for bipolar disorder or schizophrenia. The studies on the role of Sp4 gene in hippocampal development may provide novel insights for the contribution of hippocampal abnormalities in these

Abdominal Aortic Aneurysm (AAA)

Science.gov (United States)

... Professions Site Index A-Z Abdominal Aortic Aneurysm (AAA) Abdominal aortic aneurysm (AAA) occurs when atherosclerosis or plaque buildup causes the ... weak and bulge outward like a balloon. An AAA develops slowly over time and has few noticeable ...

Differential gene expression of two extreme honey bee (Apis mellifera) colonies showing varroa tolerance and susceptibility.

Science.gov (United States)

Jiang, S; Robertson, T; Mostajeran, M; Robertson, A J; Qiu, X

2016-06-01

Varroa destructor, an ectoparasitic mite of honey bees (Apis mellifera), is the most serious pest threatening the apiculture industry. In our honey bee breeding programme, two honey bee colonies showing extreme phenotypes for varroa tolerance/resistance (S88) and susceptibility (G4) were identified by natural selection from a large gene pool over a 6-year period. To investigate potential defence mechanisms for honey bee tolerance to varroa infestation, we employed DNA microarray and real time quantitative (PCR) analyses to identify differentially expressed genes in the tolerant and susceptible colonies at pupa and adult stages. Our results showed that more differentially expressed genes were identified in the tolerant bees than in bees from the susceptible colony, indicating that the tolerant colony showed an increased genetic capacity to respond to varroa mite infestation. In both colonies, there were more differentially expressed genes identified at the pupa stage than at the adult stage, indicating that pupa bees are more responsive to varroa infestation than adult bees. Genes showing differential expression in the colony phenotypes were categorized into several groups based on their molecular functions, such as olfactory signalling, detoxification processes, exoskeleton formation, protein degradation and long-chain fatty acid metabolism, suggesting that these biological processes play roles in conferring varroa tolerance to naturally selected colonies. Identification of differentially expressed genes between the two colony phenotypes provides potential molecular markers for selecting and breeding varroa-tolerant honey bees. © 2016 The Royal Entomological Society.

Coil embolization of an enlarging fusiform myxomatous cerebral aneurysm

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Frances Lazarow, MD

2018-04-01

Full Text Available Myxomatous cerebral aneurysms are rare sequelae of cardiac atrial myxoma. These aneurysms are generally fusiform, multiple, and distal. Pathogenesis and evolution of these aneurysms is still debated. There are currently no guidelines on the management of aneurysms secondary to atrial myxoma. We present a case of a 52-year-old man with multiple fusiform aneurysms 3 years after resection of a left atrial myxoma. One of these aneurysms was followed with cerebral angiography and showed substantial interval enlargement. This aneurysm was subsequently embolized. All aneurysms were stable 6 months post-embolization. Keywords: Myxomatous aneurysm, Fusiform, Coil embolization

A systems genetics approach identifies CXCL14, ITGAX, and LPCAT2 as novel aggressive prostate cancer susceptibility genes.

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Kendra A Williams

2014-11-01

Full Text Available Although prostate cancer typically runs an indolent course, a subset of men develop aggressive, fatal forms of this disease. We hypothesize that germline variation modulates susceptibility to aggressive prostate cancer. The goal of this work is to identify susceptibility genes using the C57BL/6-Tg(TRAMP8247Ng/J (TRAMP mouse model of neuroendocrine prostate cancer. Quantitative trait locus (QTL mapping was performed in transgene-positive (TRAMPxNOD/ShiLtJ F2 intercross males (n = 228, which facilitated identification of 11 loci associated with aggressive disease development. Microarray data derived from 126 (TRAMPxNOD/ShiLtJ F2 primary tumors were used to prioritize candidate genes within QTLs, with candidate genes deemed as being high priority when possessing both high levels of expression-trait correlation and a proximal expression QTL. This process enabled the identification of 35 aggressive prostate tumorigenesis candidate genes. The role of these genes in aggressive forms of human prostate cancer was investigated using two concurrent approaches. First, logistic regression analysis in two human prostate gene expression datasets revealed that expression levels of five genes (CXCL14, ITGAX, LPCAT2, RNASEH2A, and ZNF322 were positively correlated with aggressive prostate cancer and two genes (CCL19 and HIST1H1A were protective for aggressive prostate cancer. Higher than average levels of expression of the five genes that were positively correlated with aggressive disease were consistently associated with patient outcome in both human prostate cancer tumor gene expression datasets. Second, three of these five genes (CXCL14, ITGAX, and LPCAT2 harbored polymorphisms associated with aggressive disease development in a human GWAS cohort consisting of 1,172 prostate cancer patients. This study is the first example of using a systems genetics approach to successfully identify novel susceptibility genes for aggressive prostate cancer. Such

The Canine POMC Gene, Obesity in Labrador Retrievers and Susceptibility to Diabetes Mellitus

OpenAIRE

Davison, L.J.; Holder, A.; Catchpole, B.; O'Callaghan, C.A.

2017-01-01

Background Diabetes mellitus (DM) in dogs is a common endocrinopathy with a complex genetic architecture. Disease susceptibility in several breeds is associated with polymorphisms in immune response genes, but in the Labrador retriever breed, no genetic associations with DM have been identified. A deletion in the pro-opiomelanocortin (POMC) gene in Labrador retrievers is associated with increased appetite and risk of obesity. Hypothesis/Objectives To characterize the POMC deletion i...

Investigating the influence of haemodynamic stimuli on intracranial aneurysm inception.

Science.gov (United States)

Chen, Haoyu; Selimovic, Alisa; Thompson, Harry; Chiarini, Alessandro; Penrose, Justin; Ventikos, Yiannis; Watton, Paul N

2013-07-01

We propose a novel method to reconstruct the hypothetical geometry of the healthy vasculature prior to intracranial aneurysm (IA) formation: a Frenet frame is calculated along the skeletonization of the arterial geometry; upstream and downstream boundaries of the aneurysmal segment are expressed in terms of the local Frenet frame basis vectors; the hypothetical healthy geometry is then reconstructed by propagating a closed curve along the skeleton using the local Frenet frames so that the upstream boundary is smoothly morphed into the downstream boundary. This methodology takes into account the tortuosity of the arterial vasculature and requires minimal user subjectivity. The method is applied to 22 clinical cases depicting IAs. Computational fluid dynamic simulations of the vasculature without IA are performed and the haemodynamic stimuli in the location of IA formation are examined. We observe that locally elevated wall shear stress (WSS) and gradient oscillatory number (GON) are highly correlated (20/22 for WSS and 19/22 for GON) with regions susceptible to sidewall IA formation whilst haemodynamic indices associated with the oscillation of the WSS vectors have much lower correlations.

Assessment of PALB2 as a candidate melanoma susceptibility gene.

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Lauren G Aoude

Full Text Available Partner and localizer of BRCA2 (PALB2 interacts with BRCA2 to enable double strand break repair through homologous recombination. Similar to BRCA2, germline mutations in PALB2 have been shown to predispose to Fanconi anaemia as well as pancreatic and breast cancer. The PALB2/BRCA2 protein interaction, as well as the increased melanoma risk observed in families harbouring BRCA2 mutations, makes PALB2 a candidate for melanoma susceptibility. In order to assess PALB2 as a melanoma predisposition gene, we sequenced the entire protein-coding sequence of PALB2 in probands from 182 melanoma families lacking pathogenic mutations in known high penetrance melanoma susceptibility genes: CDKN2A, CDK4, and BAP1. In addition, we interrogated whole-genome and exome data from another 19 kindreds with a strong family history of melanoma for deleterious mutations in PALB2. Here we report a rare known deleterious PALB2 mutation (rs118203998 causing a premature truncation of the protein (p.Y1183X in an individual who had developed four different cancer types, including melanoma. Three other family members affected with melanoma did not carry the variant. Overall our data do not support a case for PALB2 being associated with melanoma predisposition.

de novo'' aneurysms following endovascular procedures

International Nuclear Information System (INIS)

Briganti, F.; Cirillo, S.; Caranci, F.; Esposito, F.; Maiuri, F.

2002-01-01

Two personal cases of ''de novo'' aneurysms of the anterior communicating artery (ACoA) occurring 9 and 4 years, respectively, after endovascular carotid occlusion are described. A review of the 30 reported cases (including our own two) of ''de novo'' aneurysms after occlusion of the major cerebral vessels has shown some features, including a rather long time interval after the endovascular procedure of up to 20-25 years (average 9.6 years), a preferential ACoA (36.3%) and internal carotid artery-posterior communicating artery (ICA-PCoA) (33.3%) location of the ''de novo'' aneurysms, and a 10% rate of multiple aneurysms. These data are compared with those of the group of reported spontaneous ''de novo'' aneurysms after SAH or previous aneurysm clipping. We agree that the frequency of ''de novo'' aneurysms after major-vessel occlusion (two among ten procedures in our series, or 20%) is higher than commonly reported (0 to 11%). For this reason, we suggest that patients who have been submitted to endovascular major-vessel occlusion be followed up for up to 20-25 years after the procedure, using non-invasive imaging studies such as MR angiography and high-resolution CT angiography. On the other hand, periodic digital angiography has a questionable risk-benefit ratio; it may be used when a ''de novo'' aneurysm is detected or suspected on non-invasive studies. The progressive enlargement of the ACoA after carotid occlusion, as described in our case 1, must be considered a radiological finding of risk for ''de novo'' aneurysm formation. (orig.)

Endovascular treatment for pediatric intracranial aneurysms

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Lv, Xianli; Jiang, Chuhan; Li, Youxiang; Yang, Xinjian; Wu, Zhongxue [Capital Medical University, Beijing Neurosurgical Institute and Beijing Tiantan Hospital, Beijing, Hebei (China)

2009-11-15

The purpose of this study is to report the characteristics and outcomes of pediatric patients with intracranial aneurysms. From 1998 to 2005, 25 pediatric patients (aged {<=}17 years) with intracranial aneurysm were treated at our institute. Eleven of 25 patients had subarachnoid hemorrhage. In ten patients, the aneurysm was an incidental finding. One patient presented with cranial nerves dysfunction and three with neurological deficits. The locations of the aneurysms were as follows: vertebral artery (VA; n = 9), middle cerebral artery (MCA; n = 5), posterior cerebral artery (PCA; n = 4), basilar artery (BA; n = 2), anterior communicating artery (n = 2), anterior cerebral artery (n = 2), and internal carotid artery (n = 1). Five patients were treated with selective embolization with coils. Sixteen patients were treated with parent vessel occlusion (PVO). Eight PVOs were performed with balloons and eight were performed with coils. One patient with a VA aneurysm was spontaneously thrombosed 4 days after the initial diagnostic angiogram. In three patients treated with stent alone or stent-assisted coiling, one with BA trunk aneurysm died. One aneurismal recurrence occurred and was retreated. At a mean follow-up duration of 23.5 months, 96% of patients had a Glasgow Outcome Scale score of 4 or 5. Pediatric intracranial aneurysms occur more commonly in male patients and have a predilection for the VA, PCA, and MCA. PVO is an effective and safe treatment for fusiform aneurysms. Basilar trunk fusiform aneurysms were difficult to treat and were associated with a high mortality rate. (orig.)

Linking susceptibility genes and pathogenesis mechanisms using mouse models of systemic lupus erythematosus

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Crampton, Steve P.; Morawski, Peter A.; Bolland, Silvia

2014-01-01

Systemic lupus erythematosus (SLE) represents a challenging autoimmune disease from a clinical perspective because of its varied forms of presentation. Although broad-spectrum steroids remain the standard treatment for SLE, they have many side effects and only provide temporary relief from the symptoms of the disease. Thus, gaining a deeper understanding of the genetic traits and biological pathways that confer susceptibility to SLE will help in the design of more targeted and effective therapeutics. Both human genome-wide association studies (GWAS) and investigations using a variety of mouse models of SLE have been valuable for the identification of the genes and pathways involved in pathogenesis. In this Review, we link human susceptibility genes for SLE with biological pathways characterized in mouse models of lupus, and discuss how the mechanistic insights gained could advance drug discovery for the disease. PMID:25147296

Linking susceptibility genes and pathogenesis mechanisms using mouse models of systemic lupus erythematosus

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Steve P. Crampton

2014-09-01

Full Text Available Systemic lupus erythematosus (SLE represents a challenging autoimmune disease from a clinical perspective because of its varied forms of presentation. Although broad-spectrum steroids remain the standard treatment for SLE, they have many side effects and only provide temporary relief from the symptoms of the disease. Thus, gaining a deeper understanding of the genetic traits and biological pathways that confer susceptibility to SLE will help in the design of more targeted and effective therapeutics. Both human genome-wide association studies (GWAS and investigations using a variety of mouse models of SLE have been valuable for the identification of the genes and pathways involved in pathogenesis. In this Review, we link human susceptibility genes for SLE with biological pathways characterized in mouse models of lupus, and discuss how the mechanistic insights gained could advance drug discovery for the disease.

Appearance of femoropopliteal segment aneurysms in patients with abdominal aortic aneurysm

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Maksić Milanko

2012-01-01

Full Text Available Background/Aim. To promote better treatment outcome, as well as economic benefit it is very important to find out patients with simultaneous occurrence of both aortic and arterial aneurysms. The aim of this prospective study was to determine the frequency and factors affecting femoropopliteal (F-P segment aneurysms appearance in patients with abdominal aortic aneurysms (AAA. Methods. This study included 70 patients who had underwent elective or urgent surgery of AAA from January 1, 2006 to December 31, 2007. After ultrasonographic examination of F-P segment, all the patients were divided into two groups - those with adjunctive F-P segment aneurysm (n = 20 and the group of 50 patients with no adjunctive F-P segment aneurysm. In both groups demographic characteristics (gender, age, risk factors (diabetes mellitus, elevated serum levels of cholesterol and triglycerides, arterial hypertension, smoking, obesity and cardiovascular comorbidity (cerebrovascular desease, ischemic heart desease were investigated. Results. Twenty (28.57% patients who had been operated on because of AAA, had adjunctive aneurysmal desease of F-P segment. Diabetes was no statistically significantly more present among the patients who, beside AAA, had adjunctive aneurismal desease of F-P segment (χ2 = 0.04; DF = 1; p > 0.05. Also, in both groups there was no statistically significant difference in gender structure (χ2 = 2. 05; DF = 2; p > 0.05, age (χ2 = 5. 46; DF = 1; p > 0.05, total cholesterol level (χ2 = 0.89; DF = 1; p > 0.05 and triglyceride (χ2 = 0.89; DF = 1; p > 0.05 levels, the presence of arterial hypertension (χ2 = 1.38; DF = 2; p > 0.05, smoking (χ2 = 1.74; DF = 1; p > 0.05, obesity (χ2 = 1.76; DF = 1; p > 0.05 and presence of cerebrovascular desease (χ2 = 2.34; DF = 1; p > 0.05. Conversly, ischemic heart desease was statistically significantly more present among the patients who, beside AAA, had adjunctive aneurismal desease of F-P segment (χ2 = 5

Development of a posterior cerebral artery aneurysm subsequent to occlusion of the contralateral internal carotid artery for giant cavernous aneurysm

International Nuclear Information System (INIS)

Wolf, R.L.; Hurst, R.W.; Imbesi, S.G.; Galetta, S.L.; Sinson, G.P.; Grossman, R.I.

2002-01-01

We report a case of a patient who developed a left posterior cerebral artery aneurysm 5 years after balloon occlusion of the right internal carotid artery for a giant cavernous aneurysm. The location of the new aneurysm was outside of the primary collateral pathways to the contralateral, proximally occluded, anterior circulation, illustrating the complexity of hemodynamic factors contributing to the development of intracranial saccular aneurysms. The appearance of an aneurysm in this setting supports the hypothesis that degenerative factors and hemodynamic stresses are important in the etiology of intracranial aneurysms. (orig.)

Study on the related factors influencing the formation of intra-aneurysmal thrombosis in the established side-wall aneurysmal model in canine

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Zhou Bing; Li Minghua; Wang Jianbo; Zhu Yueqi; Yuan Jianhua; Yu Wenqiang

2011-01-01

Objective: To analyze the related factors influencing the formation of intra-aneurysmal thrombosis (IAT) in the established side-wall aneurysmal model in canine, and to discuss the measures to prevent the occurrence of IAT. Methods: Twenty canines were randomly divided into 4 groups for building side-wall aneurysmal model: group A, vertical aneurysm without use of postoperative anticoagulation medication; group B, vertical aneurysm with use of postoperative anticoagulation medication; group C, oblique aneurysm without use of postoperative anticoagulation medication; and group D, oblique aneurysm with use of postoperative anticoagulation medication. Angiography was performed to evaluate the IAT. The potential related factors influencing the formation of IAT, including sex, age, operative time, aneurysmal morphology, postoperative anticoagulation medication and cervical hematoma, were statistically analysed with emphasis on aneurysmal morphology and the use of postoperative anticoagulation medication. The statistical software SPSS 12.0 was employed. Results: A total of 40 aneurysms were successfully established in 20 canines. Cervical hematoma occurred in 7 canines and IAT developed in 8 aneurysms. The univariate analysis showed that the formation of IAT was significantly influenced by the aneurysmal morphology and cervical hematoma. Surprisingly, the formation of IAT bore no relation to the postoperative anticoagulation, whether the medication was employed or not, which was further confirmed by stratified analysis. Conclusion: To establish oblique aneurysm and to reduce the occurrence of cervical hematoma can effectively decrease the incidence of IAT in established side-wall aneurysmal model in canine. The postoperative anticoagulation medication can not decrease the incidence of IAT. (authors)

Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy

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Casula, Milena; Sini, MariaCristina; Palomba, Grazia; The Italian Melanoma Intergroup; Palmieri, Giuseppe; Muggiano, Antonio; Cossu, Antonio; Budroni, Mario; Caracò, Corrado; Ascierto, Paolo A; Pagani, Elena; Stanganelli, Ignazio; Canzanella, Sergio

2009-01-01

Several genetic alterations have been demonstrated to contribute to the development and progression of melanoma. In this study, we further investigated the impact of key-regulator genes in susceptibility and pathogenesis of such a disease. A large series (N = 846) of sporadic and familial cases originating from South Italy was screened for germline mutations in p16 CDKN2A , BRCA2, and MC1R genes by DHPLC analysis and automated DNA sequencing. Paired primary melanomas and lymph node metastases from same patients (N = 35) as well as melanoma cell lines (N = 18) were analyzed for somatic mutations in NRAS, BRAF, and p16 CDKN2A genes. For melanoma susceptibility, investigations at germline level indicated that p16 CDKN2A was exclusively mutated in 16/545 (2.9%) non-Sardinian patients, whereas BRCA2 germline mutations were observed in 4/91 (4.4%) patients from North Sardinia only. Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associated with melanoma in Sardinia. Regarding genetic events involved in melanoma pathogenesis at somatic level, mutually-exclusive mutations of NRAS and BRAF genes were observed at quite same rate (about two thirds) in cultured and in vivo melanomas (either primary or metastatic lesions). Conversely, p16 CDKN2A gene alterations were observed at increased rates moving from primary to metastatic melanomas and melanoma cell lines. Activation of the ERK gene product was demonstrated to be consistently induced by a combination of molecular alterations (NRAS/BRAF mutations and p16 CDKN2A silencing). Our findings further clarified that: a) mutation prevalence in melanoma susceptibility genes may vary within each specific geographical area; b) multiple molecular events are accumulating during melanomagenesis

Endovascular Exclusion of Renal Artery Aneurysm

International Nuclear Information System (INIS)

Andersen, Poul Erik; Rohr, Nils

2005-01-01

A patient who was operated for an abdominal aortic aneurysm 7 years earlier presented with recently discovered iliac and renal artery aneurysms. The renal artery had an angulation of 90 o , but the aneurysm was successfully excluded using a covered vascular stent graft placed over an extrastiff guidewire. Even in cases of complex anatomy of a renal aneurysm, endovascular treatment should be considered. With development of more flexible and low-profile endoprosthesis with accurate deployment, these have become more usable

Giant serpentine intracranial aneurysm: a case report

International Nuclear Information System (INIS)

Park, Jae Seong; Lee, Myeong Sub; Kim, Myung Soon; Kim, Dong Jin; Park, Joong Wha; Whang, Kum

2001-01-01

The authors present a case of giant serpentine aneurysm (a partially thrombosed aneurysm containing tortuous vascular channels with a separate entrance and outflow pathway). Giant serpentine aneurysms form a subgroup of giant intracranial aneurysms, distinct from saccular and fusiform varieties, and in this case, too, the clinical presentation and radiographic features of CT, MR imaging and angiography were distinct

Association Analysis Suggests SOD2 as a Newly Identified Candidate Gene Associated With Leprosy Susceptibility.

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Ramos, Geovana Brotto; Salomão, Heloisa; Francio, Angela Schneider; Fava, Vinícius Medeiros; Werneck, Renata Iani; Mira, Marcelo Távora

2016-08-01

Genetic studies have identified several genes and genomic regions contributing to the control of host susceptibility to leprosy. Here, we test variants of the positional and functional candidate gene SOD2 for association with leprosy in 2 independent population samples. Family-based analysis revealed an association between leprosy and allele G of marker rs295340 (P = .042) and borderline evidence of an association between leprosy and alleles C and A of markers rs4880 (P = .077) and rs5746136 (P = .071), respectively. Findings were validated in an independent case-control sample for markers rs295340 (P = .049) and rs4880 (P = .038). These results suggest SOD2 as a newly identified gene conferring susceptibility to leprosy. © The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail journals.permissions@oup.com.

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

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Frank P Diekstra

Full Text Available Amyotrophic lateral sclerosis (ALS is a progressive, neurodegenerative disease characterized by loss of upper and lower motor neurons. ALS is considered to be a complex trait and genome-wide association studies (GWAS have implicated a few susceptibility loci. However, many more causal loci remain to be discovered. Since it has been shown that genetic variants associated with complex traits are more likely to be eQTLs than frequency-matched variants from GWAS platforms, we conducted a two-stage genome-wide screening for eQTLs associated with ALS. In addition, we applied an eQTL analysis to finemap association loci. Expression profiles using peripheral blood of 323 sporadic ALS patients and 413 controls were mapped to genome-wide genotyping data. Subsequently, data from a two-stage GWAS (3,568 patients and 10,163 controls were used to prioritize eQTLs identified in the first stage (162 ALS, 207 controls. These prioritized eQTLs were carried forward to the second sample with both gene-expression and genotyping data (161 ALS, 206 controls. Replicated eQTL SNPs were then tested for association in the second-stage GWAS data to find SNPs associated with disease, that survived correction for multiple testing. We thus identified twelve cis eQTLs with nominally significant associations in the second-stage GWAS data. Eight SNP-transcript pairs of highest significance (lowest p = 1.27 × 10(-51 withstood multiple-testing correction in the second stage and modulated CYP27A1 gene expression. Additionally, we show that C9orf72 appears to be the only gene in the 9p21.2 locus that is regulated in cis, showing the potential of this approach in identifying causative genes in association loci in ALS. This study has identified candidate genes for sporadic ALS, most notably CYP27A1. Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can present as a clinical mimic of ALS with progressive upper motor neuron loss, making it a plausible

Absence of linkage between MHC and a gene involved in susceptibility to human schistosomiasis

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Chiarella J.M.

1998-01-01

Full Text Available Six hundred million people are at risk of infection by Schistosoma mansoni. MHC haplotypes have been reported to segregate with susceptibility to schistosomiasis in murine models. In humans, a major gene related to susceptibility/resistance to infection by S. mansoni (SM1 and displaying the mean fecal egg count as phenotype was detected by segregation analysis. This gene displayed a codominant mode of inheritance with an estimated frequency of 0.20-0.25 for the deleterious allele and accounted for more than 50% of the variance of infection levels. To determine if the SM1 gene segregates with the human MHC chromosomal region, we performed a linkage study by the lod score method. We typed for HLA-A, B, C, DR and DQ antigens in 11 informative families from an endemic area for schistosomiasis in Bahia, Brazil, by the microlymphocytotoxicity technique. HLA-DR typing by the polymerase chain reaction with sequence-specific primers (PCR-SSP and HLA-DQ were confirmed by PCR-sequence-specific oligonucleotide probes (PCR-SSOP. The lod scores for the different q values obtained clearly indicate that there is no physical linkage between HLA and SM1 genes. Thus, susceptibility or resistance to schistosomiasis, as defined by mean fecal egg count, is not primarily dependent on the host's HLA profile. However, if the HLA molecule plays an important role in specific immune responses to S. mansoni, this may involve the development of the different clinical aspects of the disease such as granuloma formation and development of hepatosplenomegaly.

Endovascular treatment of PICA aneurysms

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Mukonoweshuro, W.; Laitt, R.D.; Hughes, D.G. [Radiology Dept., Greater Manchester Neurosciences Unit, Hope Hospital, Salford, Manchester (United Kingdom)

2003-03-01

Endovascular treatment of aneurysms of the posterior inferior cerebellar artery (PICA) avoids manipulation of the brainstem or lower cranial nerves and should therefore carry a lower risk of neurological morbidity than surgical clipping. We reviewed our experience of 23 patients with PICA aneurysms treated by endovascular occlusion with Guglielmi detachable coils and documented their long-term outcome on follow-up. We observed a 28 day procedure-related neurological morbidity of 13% (3/23 patients). One patient suffered permanent neurological complications. There were no procedure-related deaths. None of our patients suffered a re-bleed from their treated aneurysms. Our series shows endovascular treatment of ruptured PICA aneurysms to be safe and effective. (orig.)

[Congenital anomalies of cerebral artery and intracranial aneurysm].

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Nakajima, K; Ito, Z; Hen, R; Uemura, K; Matsuoka, S

1976-02-01

It is well known that congenital anomalies such as polycystic kidney, aortic coarctation, Marfan syndrome, Ehler-Danlos syndrome are apt to be complicated by intracranial aneurysms. In this report we attempt to reveal the relation and incidence between cerebrovascular anomalies and intracranial aneurysms. The etiology of aneurysms has been discussed, too. 12 cases of persistent trigeminl artery, 2 cases of persistent hypoglossal artery and 11 cases of fenestration were obtained from 3841 patients who were angiographically examined in our clinic for 5 years. The incidence is 0.31%, 0.05% and 0.29%, respectively. Persistent trigeminal arteries were complicated by 2 cases of intracranial aneurysms and one case of arterivenous malformations (AVM), persistent hypoglossal arteries were complicated by one case of aneurysm, and fenestrations were complicated by 2 cases of aneurysms and one case of AVM. One case of congenital agenesis of right internal carotid artery was obtained which was complicated by aneurysm of anterior communicating artery. Totally, 8 cases of aneurysms and AVM were obtained from 26 cases of cerebrovascular anomalies (incidence 30.8%). On the other hand, thalamic or caudate hemorrhage revealed the highest incidence of complication of intracranial aneurysms among intracerebral hematomas (10.7%). Compared with the incidence of aneurysms between cerebro vascular anomalies (30.8%) and thalamic or caudate hemorrhage (10.7%), the difference is statistically signigicant (P less than 0.05). The cause of intracranial aneurysm has not yet been clarified. But it is well accepted that the defect of tunica media vasorum is most responsible factor as to the occurrence of intracranial aneurysms. We concluded that the genetic error of cerebral vessels including defect of media caused intracranial aneurysms, and this result was supported from the evidence that cerebrovascular anomalies showed statistically high incidence of complication of intracranial aneurysms.

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes

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Sharma, Swarkar; Gao, Xiaochong; Londono, Douglas; Devroy, Shonn E.; Mauldin, Kristen N.; Frankel, Jessica T.; Brandon, January M.; Zhang, Dongping; Li, Quan-Zhen; Dobbs, Matthew B.; Gurnett, Christina A.; Grant, Struan F.A.; Hakonarson, Hakon; Dormans, John P.; Herring, John A.; Gordon, Derek; Wise, Carol A.

2011-01-01

Adolescent idiopathic scoliosis (AIS) is an unexplained and common spinal deformity seen in otherwise healthy children. Its pathophysiology is poorly understood despite intensive investigation. Although genetic underpinnings are clear, replicated susceptibility loci that could provide insight into etiology have not been forthcoming. To address these issues, we performed genome-wide association studies (GWAS) of ∼327 000 single nucleotide polymorphisms (SNPs) in 419 AIS families. We found strongest evidence of association with chromosome 3p26.3 SNPs in the proximity of the CHL1 gene (P protein related to Robo3. Mutations in the Robo3 protein cause horizontal gaze palsy with progressive scoliosis (HGPPS), a rare disease marked by severe scoliosis. Other top associations in our GWAS were with SNPs in the DSCAM gene encoding an axon guidance protein in the same structural class with Chl1 and Robo3. We additionally found AIS associations with loci in CNTNAP2, supporting a previous study linking this gene with AIS. Cntnap2 is also of functional interest, as it interacts directly with L1 and Robo class proteins and participates in axon pathfinding. Our results suggest the relevance of axon guidance pathways in AIS susceptibility, although these findings require further study, particularly given the apparent genetic heterogeneity in this disease. PMID:21216876

Cdkal1, a type 2 diabetes susceptibility gene, regulates mitochondrial function in adipose tissue

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Colin J. Palmer

2017-10-01

Conclusions: Cdkal1 is necessary for normal mitochondrial morphology and function in adipose tissue. These results suggest that the type 2 diabetes susceptibility gene CDKAL1 has novel functions in regulating mitochondrial activity.

Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

Science.gov (United States)

Jara, Lilian; Morales, Sebastian; de Mayo, Tomas; Gonzalez-Hormazabal, Patricio; Carrasco, Valentina; Godoy, Raul

2017-10-06

Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of knowledge regarding pathogenic BRCA variants and other BC susceptibility genes. We conducted a comprehensive review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting the prevalence and/or spectrum of mutations and pathogenic variants in BRCA1/2 and other BC susceptibility genes. The studies on BRCA1/2 mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a combined sample size of 11,578 individuals. To date, a total of 190 different BRCA1/2 pathogenic mutations in Central and South American populations have been reported in the literature. Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.

Association between osteopontin and human abdominal aortic aneurysm.

Science.gov (United States)

Golledge, Jonathan; Muller, Juanita; Shephard, Neil; Clancy, Paula; Smallwood, Linda; Moran, Corey; Dear, Anthony E; Palmer, Lyle J; Norman, Paul E

2007-03-01

In vitro and animal studies have implicated osteopontin (OPN) in the pathogenesis of aortic aneurysm. The relationship between serum concentration of OPN and variants of the OPN gene with human abdominal aortic aneurysm (AAA) was investigated. OPN genotypes were examined in 4227 subjects in which aortic diameter and clinical risk factors were measured. Serum OPN was measured by ELISA in two cohorts of 665 subjects. The concentration of serum OPN was independently associated with the presence of AAA. Odds ratios (and 95% confidence intervals) for upper compared with lower OPN tertiles in predicting presence of AAA were 2.23 (1.29 to 3.85, P=0.004) for the population cohort and 4.08 (1.67 to 10.00, P=0.002) for the referral cohort after adjusting for other risk factors. In 198 patients with complete follow-up of aortic diameter at 3 years, initial serum OPN predicted AAA growth after adjustment for other risk factors (standardized coefficient 0.24, P=0.001). The concentration of OPN in the aortic wall was greater in patients with small AAAs (30 to 50 mm) than those with aortic occlusive disease alone. There was no association between five single nucleotide polymorphisms or haplotypes of the OPN gene and aortic diameter or AAA expansion. Serum and tissue concentrations of OPN are associated with human AAA. We found no relationship between variation of the OPN gene and AAA. OPN may be a useful biomarker for AAA presence and growth.

Mycotic Aneurysm of the Aortic Arch

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Ji Hye Seo

2014-08-01

Full Text Available A mycotic aneurysm of the thoracic aorta is rare. We report a case of mycotic aneurysm that developed in the aortic arch. An 86-year-old man was admitted with fever and general weakness. Blood culture yielded methicillin-resistant Staphylococcus aureus. Chest X-ray showed an enlarged aortic arch, and computed tomography scan revealed an aneurysm in the aortic arch. The patient was treated only with antibiotics and not surgically. The size of the aneurysm increased rapidly, resulting in bronchial obstruction and superimposed pneumonia. The patient died of respiratory failure.

Mapping the genes for susceptibility and response to Leishmania tropica in mouse

Czech Academy of Sciences Publication Activity Database

Sohrabi, Yahya; Havelková, Helena; Kobets, Tetyana; Šíma, Matyáš; Volkova, Valeriya; Grekov, Igor; Jarošíková, T.; Kurey, Irina; Vojtíšková, Jarmila; Svobodová, M.; Demant, P.; Lipoldová, Marie

2013-01-01

Roč. 7, č. 7 (2013), s. 1-17 ISSN 1935-2735 R&D Projects: GA ČR GA310/08/1697; GA MŠk LH12049 Institutional support: RVO:68378050 Keywords : Leishmania tropica * gene controlling susceptibility * host-parasite interactions * leishmaniasis Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.489, year: 2013

Stent-assisted coiling of wide-neck bifurcation aneurysms with a branch incorporated in the aneurysm base: long-term follow-up in 49 patients with 53 aneurysms.

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Lubicz, Boris; Morais, Ricardo; Bruyère, Pierre-Julien; Ligot, Noémie; Mine, Benjamin

2017-06-01

Wide-neck bifurcation intracranial aneurysms (WNBA) with a branch incorporated in the aneurysm base remain difficult to treat by embolization. We aim to report our long-term follow-up of stent-assisted coiling (SAC) in this subgroup of patients. This study was approved by our local ethical committee. A retrospective review of our prospectively maintained database identified all patients treated in our institution by SAC for a WNBA with a branch incorporated in the aneurysm base. Technical issues, immediate, long-term outcomes were evaluated. Between 2007 and 2015, 49 patients with 53 intracranial aneurysms (IAs) (52 unruptured, 1 ruptured) were identified and successfully treated. No morbidity/mortality occurred. The incorporated branch was preserved in all patients but one who was treated during a vasospasm phase. At the first 6-month imaging control, the branch was patent. Immediate occlusion was near-complete in 11/53 aneurysms (20.8%), neck remnant in 20/53 aneurysms (37.7%), and incomplete in 22/53 aneurysms (41.5%). Available imaging follow-up of 47 IAs, ranging from 3 to 84 months (mean 26 months ± 19.6 months), showed 27 progressive thrombosis (57.4%), 17 stable occlusions (36.2%), 1 minor recanalization (2.1%), and 2 significant recanalizations that were retreated (4.3%). The latest imaging control showed 30 near-complete occlusions (63.8%), 13 neck remnants (27.7%), and 4 incomplete occlusions (8.5%). Stent-assisted coiling is safe and effective for the treatment of WNBA with a branch incorporated in the aneurysm base. Despite poor immediate anatomical results, long-term follow-up shows a high rate of progressive thrombosis achieving adequate and stable occlusion in most patients.

Bio-chemo-mechanics of thoracic aortic aneurysms.

Science.gov (United States)

Wagenseil, Jessica E

2018-03-01

Most thoracic aortic aneurysms (TAAs) occur in the ascending aorta. This review focuses on the unique bio-chemo-mechanical environment that makes the ascending aorta susceptible to TAA. The environment includes solid mechanics, fluid mechanics, cell phenotype, and extracellular matrix composition. Advances in solid mechanics include quantification of biaxial deformation and complex failure behavior of the TAA wall. Advances in fluid mechanics include imaging and modeling of hemodynamics that may lead to TAA formation. For cell phenotype, studies demonstrate changes in cell contractility that may serve to sense mechanical changes and transduce chemical signals. Studies on matrix defects highlight the multi-factorial nature of the disease. We conclude that future work should integrate the effects of bio-chemo-mechanical factors for improved TAA treatment.

Aneurysmal wall enhancement and perianeurysmal edema after endovascular treatment of unruptured cerebral aneurysms.

LENUS (Irish Health Repository)

Su, I-Chang

2014-06-01

Perianeurysmal edema and aneurysm wall enhancement are previously described phenomenon after coil embolization attributed to inflammatory reaction. We aimed to demonstrate the prevalence and natural course of these phenomena in unruptured aneurysms after endovascular treatment and to identify factors that contributed to their development.

Isolated iliac artery aneurysms with associated hydronephrosis.

LENUS (Irish Health Repository)

O'Driscoll, D

2012-02-03

An isolated iliac artery aneurysm is where there is aneurysmal dilatation of one or more branches of the iliac system, with no associated dilatation of the aorta. Such aneurysms are rare and comprise 1% of all intra-abdominal aneurysms. The signs and symptoms of such an aneurysm are influenced by its concealed location within the bony pelvis. Awareness of these special characteristics improves the chances of early diagnosis and proper treatment before possible rupture. We present the clinical and radiological features of three such aneurysms. Ultrasound was the first imaging modality to be performed. Ipsilateral hydronephrosis was demonstrated in each case, this lead to imaging the pelvis and the correct diagnosis. We review the clinical and radiological literature and conclude that the pelvis should be imaged in all cases of unexplained hydronephrosis.

An anatomic risk model to screen post endovascular aneurysm repair patients for aneurysm sac enlargement.

Science.gov (United States)

Png, Chien Yi M; Tadros, Rami O; Beckerman, William E; Han, Daniel K; Tardiff, Melissa L; Torres, Marielle R; Marin, Michael L; Faries, Peter L

2017-09-01

Follow-up computed tomography angiography (CTA) scans add considerable postimplantation costs to endovascular aneurysm repairs (EVARs) of abdominal aortic aneurysms (AAAs). By building a risk model, we hope to identify patients at low risk for aneurysm sac enlargement to minimize unnecessary CTAs. 895 consecutive patients who underwent EVAR for AAA were reviewed, of which 556 met inclusion criteria. A Probit model was created for aneurysm sac enlargement, with preoperative aneurysm morphology, patient demographics, and operative details as variables. Our final model included 287 patients and had a sensitivity of 100%, a specificity of 68.9%, and an accuracy of 70.4%. Ninety-nine (35%) of patients were assigned to the high-risk group, whereas 188 (65%) of patients were assigned to the low-risk group. Notably, regarding anatomic variables, our model reported that age, pulmonary comorbidities, aortic neck diameter, iliac artery length, and aneurysms were independent predictors of post-EVAR sac enlargement. With the exception of age, all statistically significant variables were qualitatively supported by prior literature. With regards to secondary outcomes, the high-risk group had significantly higher proportions of AAA-related deaths (5.1% versus 1.1%, P = 0.037) and Type 1 endoleaks (9.1% versus 3.2%, P = 0.033). Our model is a decent predictor of patients at low risk for post AAA EVAR aneurysm sac enlargement and associated complications. With additional validation and refinement, it could be applied to practices to cut down on the overall need for postimplantation CTA. Copyright © 2017 Elsevier Inc. All rights reserved.

Familial Abdominal Aortic Aneurysm : Clinical Features and Genetics

NARCIS (Netherlands)

K.M. van de Luijtgaarden (Koen)

2016-01-01

markdownabstractAbstract Cardiovascular disease is the most important cause of death in the world and encompasses occlusive as well as aneurysmal disease. The most common aneurysm in humans is the abdominal aortic aneurysm (AAA). The question is why the aorta dilates in aneurysmal disease and

Traumatic aneurysms of the pericallosal arteries

International Nuclear Information System (INIS)

Nakstad, P.; Nornes, H.; Hauge, H.N.

1986-01-01

Of a total of 912 operated intracranial aneurysms only three were classified as traumatic (0.3%). They were found in children after severe head trauma and were all located on the pericallosal artery or its branches and not a bifurcations. Shearing forces between the falx, the arteries and the brain at the time of injury are held responsible for the development of these aneurysms. Unlike these traumatic aneurysms, 29 ''spontaneous'' pericallosal aneurysms (3.2%) in adults were located at the bifurcations of the artery. As significantly fewer reports of traumatic aneurysms have been published during the last decade than before 1976, it is suggested that some might have been overlooked as a consequence of CT replacing cerebral angiography in the neuroradiological evaluation of severe head injury. This possibility should be kept in mind, especially when dealing with children after head injury and when CT scans indicate brain damage around the falx. The possibility of overlooking traumatic pericallosal aneurysms is described by other authors and discussed further in this paper. (orig.)

HLA non-class II genes may confer type I diabetes susceptibility in a Mapuche (Amerindian) affected family.

Science.gov (United States)

Pérez-Bravo, Francisco; Martinez-Laso, Jorge; Martin-Villa, Jose M; Moscoso, Juan; Moreno, Almudena; Serrano-Vela, Juan I; Zamora, Jorge; Asenjo, Silvia; Gleisner, Andrea; Arnaiz-Villena, Antonio

2006-01-01

A rare case of type I diabetes is studied in an Amerindian (Mapuche) family from Chile, analyzing glutamic acid decarboxylase, islet-cell autoantibodies and human leukocyte antigen (HLA) genes. The affected sib is the only one that has one specific HLA haplotype combination that differs from the other sibs only in the HLA class I genes. It is concluded that HLA diabetes susceptibility factors may be placed outside the class II region or even that susceptibility factors do not exist in the HLA region in this Amerindian family.

Bilateral giant femoropopliteal artery aneurysms: a case report

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Perdikides Theodossios P

2008-04-01

Full Text Available Abstract Introduction Popliteal artery aneurysms are the most common peripheral arterial aneurysms, and are frequently bilateral. Acute limb ischemia, rupture and compression phenomena can complicate these aneurysms when the diameter exceeds 2 cm. Case Presentation We report an 82-year-old male patient with two giant femoropopliteal aneurysms, 10.5 and 8.5 cm diameters, managed in our institution. Both aneurysms were resected and a polytetrafluoroethylene (PTFE femoropopliteal interposition graft was placed successfully. Management and literature review are discussed. Conclusion We believe this is the first report in the medical literature of bilateral giant femoropopliteal aneurysms.

Endovascular coil embolization for anterior choroidal artery aneurysms

Energy Technology Data Exchange (ETDEWEB)

Kim, Byung Moon; Chung, Eun Chul [Sungkyunkwan University School of Medicine, Department of Radiology, Kangbuk Samsung Hospital, Seoul (Korea); Kim, Dong Ik; Kim, Dong Joon; Suh, Sang Hyun [Yonsei University College of Medicine, Department of Radiology, Seoul (Korea); Kim, Sun Yong [Ajou University College of Medicine, Department of Radiology, Suwon (Korea); Shin, Yong Sam [Ajou University College of Medicine, Department of Neurosurgery, Suwon (Korea); Park, Sung Il [Soonchunhyang University College of Medicine, Department of Radiology, Bucheon Hospital, Bucheon (Korea); Choi, Chun Sik; Won, Yu.Sam [Sungkyunkwan University School of Medicine, Department of Neurosurgery, Kangbuk Samsung Hospital, Seoul (Korea)

2008-03-15

We retrospectively evaluated the ischemic complications related to the anterior choroidal artery (AChA) and clinical outcome after coiling of AChA aneurysms. We included 37 patients (27 with subarachnoid hemorrhage, 10 without) harboring 38 AChA aneurysms (23 ruptured, 15 unruptured) who were treated by coiling at four institutions. Ischemic complications related to the AChA and clinical outcomes were retrospectively evaluated. Intraprocedural transient AChA occlusion occurred in five aneurysms, all of which had AChA incorporated into the aneurysm neck. Two of the five patients suffered postprocedural transient contralateral hemiparesis, but recovered completely. The remaining three patients had no postprocedural symptoms. Incidence of transient AChA occlusion was significantly higher in those aneurysms in which the AChA was incorporated into aneurysm neck (group 2) than in those in which the AChA was not incorporated (group 1). Of the 37 patients, 31 (83.8%) had good recoveries (modified Rankin scale score 0-2). Two patients died from the consequences of subarachnoid hemorrhage. During follow-up for a mean of 27 months (range 4-72 months), none of the 35 living patients re-bled. A total of 29 aneurysms in 28 patients were followed-up angiographically. Recurrences were found in 5 of the 29 aneurysms during follow-up (mean 18 months, range 6-45 months). Re-embolization achieved near complete occlusion of two recurrent aneurysms, both of which were still stable at the time of the next two follow-up angiographies. The other three recurrent aneurysms were not retreated due to the small size of the recurrences. Coiling of AChA aneurysms resulted in good outcomes without AChA-related permanent ischemic complications. Transient AChA occlusion, potentially associated with ischemic complications, was significantly more frequent in the aneurysm in which the AChA was incorporated into the aneurysm neck. (orig.)

Endovascular Aortic Aneurysm Repair for Abdominal Aortic Aneurysm: Single Center Experience in 122 Patients

International Nuclear Information System (INIS)

Lee, Yun Young; Song, Jang Hyeon; Kim, Yong Tae; Yim, Nam Yeol; Kim, Jae Kyu; Lee, Ho Kyun; Choi, Soo Jin Na; Chung, Sang Young; Kim, Soo Hyun; Chang, Nam Kyu

2013-01-01

To analyze a single center experience of endovascular aneurysm repair (EVAR) for abdominal aortic aneurysms. Results of 122 patients who underwent EVAR were analyzed, retrospectively. Sex, age, aneurysmal morphology, hostile neck anatomy, preprocedural and postprocedural sac-diameter, technical and clinical success, postprocedural complication and need of additional procedure were analyzed. A total of 111 male and 11 female patients were included. Morphology of the aneurysms was as follows: fusiform (n = 108), saccular (n = 3) and ruptured type (n = 11). Sixty-four patients had hostile neck anatomy. The preprocedural mean sac-diameter was 52.4 mm. Postprocedural sac-diameter was decreased or stable in 110 patients (90.2%) and increased in 8 patients (6.6%). Technical success rate was 100% and clinical success rate was 86.1%. Fifty-one patients showed endoleak (41.8%) and 15 patients (12.3%) underwent secondary intervention due to type I endoleak (n = 4), type II endoleak (n = 4) and stent-graft thrombosis (n = 7). EVAR is a safe and effective therapy for abdominal aortic aneurysm, and it has high technical success and clinical success rate, and low complication rate.

Extra-anatomic endovascular repair of an abdominal aortic aneurysm with a horseshoe kidney supplied by the aneurysmal aorta.

Science.gov (United States)

Rey, Jorge; Golpanian, Samuel; Yang, Jane K; Moreno, Enrique; Velazquez, Omaida C; Goldstein, Lee J; Chahwala, Veer

2015-07-01

Abdominal aortic aneurysm complicated by a horseshoe kidney (HSK, fused kidney) represents a unique challenge for repair. Renal arteries arising from the aneurysmal aorta can further complicate intervention. Reports exist describing the repair of these complex anatomies using fenestrated endografts, hybrid open repairs (debranching), and open aneurysmorrhaphy with preservation of renal circulation. We describe an extra-anatomic, fully endovascular repair of an abdominal aortic aneurysm with a HSK partially supplied by a renal artery arising from the aneurysm. We successfully applied aortouni-iliac endografting, femorofemoral bypass, and retrograde renal artery perfusion via the contralateral femoral artery to exclude the abdominal aortic aneurysm and preserve circulation to the HSK. Copyright © 2015 Elsevier Inc. All rights reserved.

Identifying new susceptibility genes on dopaminergic and serotonergic pathways for the framing effect in decision-making.

Science.gov (United States)

Gao, Xiaoxue; Liu, Jinting; Gong, Pingyuan; Wang, Junhui; Fang, Wan; Yan, Hongming; Zhu, Lusha; Zhou, Xiaolin

2017-09-01

The framing effect refers the tendency to be risk-averse when options are presented positively but be risk-seeking when the same options are presented negatively during decision-making. This effect has been found to be modulated by the serotonin transporter gene (SLC6A4) and the catechol-o-methyltransferase gene (COMT) polymorphisms, which are on the dopaminergic and serotonergic pathways and which are associated with affective processing. The current study aimed to identify new genetic variations of genes on dopaminergic and serotonergic pathways that may contribute to individual differences in the susceptibility to framing. Using genome-wide association data and the gene-based principal components regression method, we examined genetic variations of 26 genes on the pathways in 1317 Chinese Han participants. Consistent with previous studies, we found that the genetic variations of the SLC6A4 gene and the COMT gene were associated with the framing effect. More importantly, we demonstrated that the genetic variations of the aromatic-L-amino-acid decarboxylase (DDC) gene, which is involved in the synthesis of both dopamine and serotonin, contributed to individual differences in the susceptibility to framing. Our findings shed light on the understanding of the genetic basis of affective decision-making. © The Author (2017). Published by Oxford University Press.

Identifying new susceptibility genes on dopaminergic and serotonergic pathways for the framing effect in decision-making

Science.gov (United States)

Gao, Xiaoxue; Liu, Jinting; Gong, Pingyuan; Wang, Junhui; Fang, Wan; Yan, Hongming; Zhu, Lusha

2017-01-01

Abstract The framing effect refers the tendency to be risk-averse when options are presented positively but be risk-seeking when the same options are presented negatively during decision-making. This effect has been found to be modulated by the serotonin transporter gene (SLC6A4) and the catechol-o-methyltransferase gene (COMT) polymorphisms, which are on the dopaminergic and serotonergic pathways and which are associated with affective processing. The current study aimed to identify new genetic variations of genes on dopaminergic and serotonergic pathways that may contribute to individual differences in the susceptibility to framing. Using genome-wide association data and the gene-based principal components regression method, we examined genetic variations of 26 genes on the pathways in 1317 Chinese Han participants. Consistent with previous studies, we found that the genetic variations of the SLC6A4 gene and the COMT gene were associated with the framing effect. More importantly, we demonstrated that the genetic variations of the aromatic-L-amino-acid decarboxylase (DDC) gene, which is involved in the synthesis of both dopamine and serotonin, contributed to individual differences in the susceptibility to framing. Our findings shed light on the understanding of the genetic basis of affective decision-making. PMID:28431168

Safety and efficacy of aneurysm treatment with WEB

DEFF Research Database (Denmark)

Pierot, Laurent; Costalat, Vincent; Moret, Jacques

2016-01-01

OBJECT WEB is an innovative intrasaccular treatment for intracranial aneurysms. Preliminary series have shown good safety and efficacy. The WEB Clinical Assessment of Intrasaccular Aneurysm Therapy (WEBCAST) trial is a prospective European trial evaluating the safety and efficacy of WEB in wide......-neck bifurcation aneurysms. METHODS Patients with wide-neck bifurcation aneurysms for which WEB treatment was indicated were included in this multicentergood clinical practices study. Clinical data including adverse events and clinical status at 1 and 6 months were collected and independently analyzed by a medical....... RESULTS Ten European neurointerventional centers enrolled 51 patients with 51 aneurysms. Treatment with WEB was achieved in 48 of 51 aneurysms (94.1%). Adjunctive implants (coils/stents) were used in 4 of 48 aneurysms (8.3%). Thromboembolic events were observed in 9 of 51 patients (17.6%), resulting...

Interventional procedures of the isolated iliac arterial aneurysm

Energy Technology Data Exchange (ETDEWEB)

Ohm, Joon Young [The Catholic Univ. of Korea College of Medicine, Bucheon (Korea, Republic of); Shin, Byung Seok; Ahn, Moon Sang [Chungnam National Univ. Hospital, Daejeon (Korea, Republic of); Park, Mi Hyun [Dankook Univ. Hospital, Cheonan (Korea, Republic of); Kim, Ho Jun [Konyang Univ. Hospital, Daejeon (Korea, Republic of)

2012-05-15

To report the results of treatment isolated iliac arterial aneurysms by interventional procedures. Over a period of 5 years, 7 isolated iliac artery aneurysms (4 in the common iliac artery, 3 in the internal iliac artery) in 7 patients (3 women, 4 men; mean age, 65.7 years) were treated using interventional procedures. The mean aneurysm size was 35 mm (range, 30-45 mm). The common iliac aneurysms were treated using a unilateral stent graft (2 balloon expandable, 2 self expandable) with coil embolization of the internal iliac artery (n = 3), except for 1 aneurysm that ruptured. Coil embolization alone was performed for aneurysms involving only the internal iliac artery (n = 3). All patients were treated successfully, except for 1 with an initial remnant of type 2 endoleak. There were no perioperative complications. No leakage or complication occurred at the mean follow up of 14 months (range 2-29 months). One patient with a ruptured aneurysm died of multi organ failure during the follow up period. Three aneurysms had decreased in size on follow up CT. Interventional procedures with stent grafting and coil embolization are safe and effective treatments for isolated iliac artery aneurysms.

Advances in the imaging of cerebral aneurysm inflammation

Directory of Open Access Journals (Sweden)

Michael R Levitt

2015-06-01

Full Text Available Cerebral aneurysm formation, growth and rupture are thought to be the result of a complex interaction between cerebrovascular hemodynamics and pathobiology. Recently, new evidence has emerged regarding the role of inflammation in the walls of cerebral aneurysms. Noninvasive methods to characterize the degree of inflammation in aneurysms could enable clinicians to estimate the risk of future aneurysm growth and rupture, influencing treatment. This review examines emerging techniques of imaging inflammatory biomarkers in cerebral aneurysms.

Susceptibilities to carbapenems and presence of cphA gene on food-borne Aeromonas

Directory of Open Access Journals (Sweden)

Bibiana María Martín Talavera

2006-07-01

Full Text Available The purpose of this study was to determine the susceptibilities of food-borne Aeromonas to carbapenems, as well as to investigate the presence of a metallo carbapenemase-encoding gene, named cphA. Minimum Inhibitory Concentration (MIC was determined following NCCLS standards. All the tested microorganisms were susceptible to imipenem, meropenem and biapenem. However, a strong inoculum size effect on carbapenem MICs was observed for most of the strains. Six strains, out of seven, showed the presence of metallo--beta-lactamases but cphA gene was detected in only two strains of A. veronii bv. sobria.O objetivo deste estudo foi determinar a suscetibilidade de aeromonas de origem alimentar a carbapenems bem como investigar a presença de um gene codificante de metalocarbapenemase, denominado "cph A". A suscetibilidade in vitro foi determinada pelo metodo de diluição em agar. Todas as cepas foram suscetíveis a Imipenem, Meropenem e Biapenem. Porém foi observado um forte efeito de tamanho do inóculo sobre as CIM das carbapenems na maioria das cepas. A detecção de metalo-beta-lactamase foi realizada pelo metodo lodometrico. Seis cepas das sete testadas demostraron a presença da enzima. A presença do gene cphA foi determinada por PCR e foi detectada em duas cepas de A veronii bv. sobria.

Carotid artery aneurysm resulting in myxedema coma

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Elizabeth M. Lamos

2015-06-01

Full Text Available Intra-sellar aneurysms are a rare, but important consideration when evaluating pituitary masses. Identification of aneurysms is critical to appropriate treatment and avoiding perilous consequences. These vascular aneurysms can result in severe endocrine dysfunction due to mass effect, stripping of the vascular supply to the pituitary, or hemorrhage. Here we describe a novel case of spontaneous myxedema coma and pituitary apoplexy secondary to a large internal carotid artery aneurysm.

The pretzel sign: angiographic pattern of tortuous intra-aneurysmal blood flow in a giant serpentine aneurysm.

LENUS (Irish Health Repository)

Fanning, N F

2012-02-03

Giant serpentine aneurysms (GSAs) form a specific subgroup of giant cerebral aneurysms that have pathognomonic angiographic features. We report the angiographic findings of a GSA demonstrating a striking convoluted dynamic flow pattern, which we have called the \\'pretzel sign\\'. The aneurysm was successfully treated by permanent occlusion of the parent vessel using a detachable balloon. GSAs should be identified prior to treatment in view of their particular management requirements.

Candidate chromosome 1 disease susceptibility genes for Sjogren’s syndrome xerostomia are narrowed by novel NOD.B10 congenic mice

Science.gov (United States)

Mongini, Patricia K. A.; Kramer, Jill M.; Ishikawa, Tomo-o; Herschman, Harvey; Esposito, Donna

2014-01-01

Sjogren’s syndrome (SS) is characterized by salivary gland leukocytic infiltrates and impaired salivation (xerostomia). Cox-2 (Ptgs2) is located on chromosome 1 within the span of the Aec2 region. In an attempt to demonstrate that COX-2 drives antibody-dependent hyposalivation, NOD.B10 congenic mice bearing a Cox-2flox gene were generated. A congenic line with non-NOD alleles in Cox-2-flanking genes failed manifest xerostomia. Further backcrossing yielded disease-susceptible NOD.B10 Cox-2flox lines; fine genetic mapping determined that critical Aec2 genes lie within a 1.56 to 2.17 Mb span of DNA downstream of Cox-2. Bioinformatics analysis revealed that susceptible and non-susceptible lines exhibit non-synonymous coding SNPs in 8 protein-encoding genes of this region, thereby better delineating candidate Aec2 alleles needed for SS xerostomia. PMID:24685748

Differential in vivo gene expression of major Leptospira proteins in resistant or susceptible animal models.

Science.gov (United States)

Matsui, Mariko; Soupé, Marie-Estelle; Becam, Jérôme; Goarant, Cyrille

2012-09-01

Transcripts of Leptospira 16S rRNA, FlaB, LigB, LipL21, LipL32, LipL36, LipL41, and OmpL37 were quantified in the blood of susceptible (hamsters) and resistant (mice) animal models of leptospirosis. We first validated adequate reference genes and then evaluated expression patterns in vivo compared to in vitro cultures. LipL32 expression was downregulated in vivo and differentially regulated in resistant and susceptible animals. FlaB expression was also repressed in mice but not in hamsters. In contrast, LigB and OmpL37 were upregulated in vivo. Thus, we demonstrated that a virulent strain of Leptospira differentially adapts its gene expression in the blood of infected animals.

Successful Endovascular Treatment of a Left Common Carotid Artery Aneurysm Following Failed Surgery of a Right Common Carotid Artery Aneurysm

International Nuclear Information System (INIS)

Cil, Barbaros E.; Ucar, Ibrahim; Ozsoy, Fatma; Arat, Anil; Yorgancioglu, Cem; Boeke, Erkmen

2005-01-01

Aneurysm of the common carotid artery is a rare and serious disease requiring prompt treatment in order to avoid neurologic complications. A 39-year-old man presented with voice impairment and a pulsatile mass at the right side of his neck and was found by color Doppler examination to have bilateral common carotid artery aneurysms of unknown origin. The right-sided large aneurysm was treated with placement of an 8 mm interposition Gore-Tex graft between the right common and internal carotid arteries. The surgical graft thrombosed 7 days after the surgery but the left-sided aneurysm was successfully treated by a Jostent peripheral stent-graft. Color Doppler examination showed a patent stent and no filling of the aneurysm on his first and sixth-month follow-up. Bilateral common carotid artery aneurysm is an exceptionally unusual condition and endovascular treatment of carotid artery aneurysms with covered stents may become an effective treatment alternative for these lesions

A new self-expanding nitinol stent (Enterprise) for the treatment of wide-necked intracranial aneurysms: initial clinical and angiographic results in 31 aneurysms

Energy Technology Data Exchange (ETDEWEB)

Weber, Werner; Kuehne, Dietmar [Alfried Krupp Hospital, Department of Radiology and Neuroradiology, Essen (Germany); Bendszus, Martin; Solymosi, Laszlo [University of Wuerzburg, Department of Neuroradiology, Wuerzburg (Germany); Kis, Bernhard [University of Duisburg-Essen, Research Unit, Rheinische Kliniken Essen, Department of Psychiatry and Psychotherapy, Essen (Germany); Boulanger, Thierry [Centre Hospitalier of Luxembourg, Service of Neuroradiology, Luxembourg (Luxembourg)

2007-07-15

We report the results of a prospective clinical study using a new self-expanding nitinol stent (Enterprise) designed for the treatment of wide-necked intracranial aneurysms. We treated 31 saccular, wide-necked intracranial aneurysms in 30 patients. Ten aneurysms had recanalized after prior endovascular treatment without a stent, and 21 aneurysms had not been treated before. Stent deployment was successful in all procedures. Additional coil embolization was performed in all aneurysms. Initial complete angiographic occlusion was achieved in 6 aneurysms, a neck remnant was left in 18 aneurysms and there were 7 residual aneurysms. Angiographic follow-up examinations of 30 lesions after 6 months demonstrated 15 complete occlusions, 8 neck remnants and 7 residual aneurysms. One patient refused the 6-month angiographic follow-up. Spontaneous occlusion of the aneurysm had occurred in 14 patients, and 6 aneurysms showed recanalization. Four of these residual aneurysms were retreated. At the 6-month follow-up, 29 parent arteries were unaffected, whereas two parent vessels demonstrated minor asymptomatic narrowing at the stent site. Two patients experienced one or more possible or probable device-related serious adverse events during the 6-month follow-up period. There was no procedural morbidity or mortality at 6 months after the procedure. The reported results demonstrated the safety and feasibility of the Cordis Neurovascular Enterprise stent in the treatment of wide-necked intracranial aneurysms. Initial clinical and angiographic results are favorable. (orig.)

Progressive Occlusion of Small Saccular Aneurysms Incompletely Occluded After Stent-Assisted Coil Embolization : Analysis of Related Factors and Long-Term Outcomes.

Science.gov (United States)

Lim, Jeong Wook; Lee, Jeongjun; Cho, Young Dae

2017-08-08

Incompletely occluded aneurysms after coil embolization are subject to recanalization but occasionally progress to a totally occluded state. Deployed stents may actually promote thrombosis of coiled aneurysms. We evaluated outcomes of small aneurysms (medium was evident after stent-assisted coiling, assessing factors implicated in subsequent progressive occlusion. Between September 2012 and June 2016, a total of 463 intracranial aneurysms were treated by stent-assisted coil embolization. Of these, 132 small saccular aneurysms displayed saccular filling with contrast medium in the immediate aftermath of coiling. Progressive thrombosis was defined as complete aneurysmal occlusion at the 6‑month follow-up point. Rates of progressive occlusion and factors predisposing to this were analyzed via binary logistic regression. In 101 (76.5%) of the 132 intracranial aneurysms, complete occlusion was observed in follow-up imaging studies at 6 months. Binary logistic regression analysis indicated that progressive occlusion was linked to smaller neck diameter (odds ratio [OR] = 1.533; p = 0.003), hyperlipidemia (OR = 3.329; p = 0.036) and stent type (p = 0.031). The LVIS stent is especially susceptible to progressive thrombosis, more so than Neuroform (OR = 0.098; p = 0.008) or Enterprise (OR = 0.317; p = 0.098) stents. In 57 instances of progressive thrombosis, followed for ≥12 months (mean 25.0 ± 10.7 months), 56 (98.2%) were stable, with minor recanalization noted once (1.8%) and no major recanalization. Aneurysms associated with smaller diameter necks, hyperlipidemic states and LVIS stent deployment may be inclined to possible thrombosis, if occlusion immediately after stent-assisted coil embolization is incomplete. In such instances, excellent long-term durability is anticipated.

Association of the NOS3 intron-4 VNTR polymorphism with aneurysmal subarachnoid hemorrhage

DEFF Research Database (Denmark)

Staalsø, Jonatan Myrup; Edsen, Troels; Kotinis, Alexandros

2014-01-01

OBJECT: The nitric oxide system has been linked to the pathogenesis of aneurysmal subarachnoid hemorrhage (SAH). The authors performed a case-control study to investigate the association between SAH and common genetic variants within the endothelial nitric oxide synthase gene (NOS3). METHODS: Thr...

Advances in open microsurgery for cerebral aneurysms.

Science.gov (United States)

Davies, Jason M; Lawton, Michael T

2014-02-01

Endovascular techniques introduced strong extrinsic forces that provoked reactive changes in aneurysm surgery. Microsurgery has become less invasive, more appealing to patients, lower risk, and efficacious for complex aneurysms, particularly those unfavorable for or failing endovascular therapy. To review specific advances in open microsurgery for aneurysms. A university-based, single-surgeon practice was examined for the use of minimally invasive craniotomies, surgical management of recurrence after coiling, the use of intracranial-intracranial bypass techniques, and cerebrovascular volume-outcome relationships. The mini-pterional, lateral supraorbital, and orbital-pterional craniotomies are minimally invasive alternatives to standard craniotomies. Mini-pterional and lateral supraorbital craniotomies were used in one-fourth of unruptured patients, increasing from 22% to 28%, whereas 15% of patients underwent orbital-pterional craniotomies and trended upward from 11% to 20%. Seventy-four patients were treated for coil recurrences (2.3% of all aneurysms) with direct clip occlusion (77%), clip occlusion after coil extraction (7%), or parent artery occlusion with bypass (16%). Intracranial-intracranial bypass (in situ bypass, reimplantation, reanastomosis, and intracranial grafts) transformed the management of giant aneurysms and made the surgical treatment of posterior inferior cerebellar artery aneurysms competitive with endovascular therapy. Centralization maximized the volume-outcome relationships observed with clipping. Aneurysm microsurgery has embraced minimalism, tailoring the exposure to the patient's anatomy with the smallest possible craniotomy that provides adequate exposure. The development of intracranial-intracranial bypasses is an important advancement that makes microsurgery a competitive option for complex and recurrent aneurysms. Trends toward centralizing aneurysm surgery in tertiary centers optimize results achievable with open microsurgery.

Idiopathic subvalvular aortic aneurysm masquerading as acute coronary syndrome.

Science.gov (United States)

Natarajan, Balaji; Ramanathan, Sundar; Subramaniam, Natarajan; Janardhanan, Rajesh

2016-09-02

Subvalvular aneurysms are the least common type of left ventricular (LV) aneurysms and can be fatal. Subaortic LV aneurysms are much rarer than submitral LV aneurysms and mostly reported in infancy. They can be congenital or acquired secondary to infections, cardiac surgery or trauma. Here, we report a unique presentation of a large, idiopathic subaortic aneurysm in an adult masquerading as an acute coronary syndrome. Diagnosis was made with the help of a CT aortography. Aneurysm was surgically resected with good results. This case highlights the clinical presentation and management of subaortic aneurysms, an important differential for congenital aortic malformations. 2016 BMJ Publishing Group Ltd.

Extracranial internal carotid artery aneurysm: case illustration

Directory of Open Access Journals (Sweden)

Zenteno Marco

2017-12-01

Full Text Available Extracranial internal carotid artery aneurysms (EICAA are uncommon lesion. These aneurysms can be classified as true or false aneurysms, atherosclerotic, dysplastic, infectious, posttraumatic and iatrogenic aneurysms. The most common presentation is central neurologic dysfunction, either a stroke or a transient ischemic attack. The rupture of these aneurysms can lead to severely impairment and can affect the quality of life of the patients or even may lead to death. Management of these lesions is required in most cases to prevent complications, however there is no treatment guideline or expert consensus for the management. We present a case of an unusual EICAA, associated with kinking of the affected vessel and review the literature.

Role of Endothelial Nitric Oxide Synthase Gene Polymorphisms in Predicting Aneurysmal Subarachnoid Hemorrhage in South Indian Patients

Directory of Open Access Journals (Sweden)

Linda Koshy

2008-01-01

Full Text Available Endothelial nitric oxide synthase (eNOS gene polymorphisms have been implicated as predisposing genetic factors that can predict aneurysmal subarachnoid hemorrhage (aSAH, but with controversial results from different populations. Using a case-control study design, we tested the hypothesis whether variants in eNOS gene can increase risk of aSAH among South Indian patients, either independently, or by interacting with other risk factors of the disease. We enrolled 122 patients, along with 224 ethnically matched controls. We screened the intron-4 27-bp VNTR, the promoter T-786C and the exon-7 G894T SNPs in the eNOS gene. We found marked interethnic differences in the genotype distribution of eNOS variants when comparing the South Indian population with the reported frequencies from Caucasian and Japanese populations. Genotype distributions in control and patient populations were found to be in Hardy-Weinberg equilibrium. In patients, the allele, genotype and estimated haplotype frequencies did not differ significantly from the controls. Multiple logistic regression indicated hypertension and smoking as risk factors for the disease, however the risk alleles did not have any interaction with these risk factors. Although the eNOS polymorphisms were not found to be a likely risk factor for aSAH, the role of factors such as ethnicity, gender, smoking and hypertension should be evaluated cautiously to understand the genotype to phenotype conversion.

A meta-analysis of xeroderma pigmentosum gene D Ls751Gln polymorphism and susceptibility to hepatocellular carcinoma.

Science.gov (United States)

Wang, Yu; Zhao, Yingren; Zhang, Aiyun; Ma, Juan; Wang, Zhenzhen; Zhang, Xu

2015-01-01

Hepatocellular carcinoma (HCC) is one of most common malignant tumors worldwide, but with unclear mechanisms. Xeroderma pigmentosum gene D (XPD) is one important DNA damage repair gene and can be involved in protein mutation. Currently little has been known about XPD polymorphism and HCC susceptibility in Chinese people. This study used a meta-analysis approach to comprehensively investigate the correlation between XPD polymorphism and HCC susceptibility in Chinese population, based on previously published literatures. A computer retrieval system was used to collect all case-control studies about XPD Lys751Gln polymorphism and HCC susceptibility. Data in literatures were extracted for meta-analysis. After the primary screening, four independent studies, which were published in 3 English articles and one Chinese article, were recruited in this study. There were 1,717 samples included in all studies. Using Gln/Gln + Lys/Gln, Lys/Lys + Lys/Gln and Lys allels as the reference, HCC disease alleles including Lys/Lys, Gln/Gln and Gln had OR values (95% CI, I(2)) of 1.007 (0.657~4.672, 91%), 3.516 (0.220~20.661, 48%) and 3.225 (0.278~12.326, 84%), respectively. The polymorphism of XPD751 loci is closely correlated with primary HCC. Lys751Gln polymorphism of XPD gene can be used as one susceptibility factor for HCC.

Association Study between Polycystic Ovarian Syndrome and the Susceptibility Genes Polymorphisms in Hui Chinese Women.

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Lingxia Ha

Full Text Available Polycystic ovary syndrome (PCOS is one of the most common endocrine-metabolic disorders. Evidence of familial aggregation analysis and different clinical traits among different regions and ethnicities indicated that the pathogenesis of PCOS is associated with multiple genetic and environmental factors. Our previous research had identified three susceptibility loci (rs2479106, DENND1A; rs13405728, LHCGR; rs13429458, THADA for PCOS in Han Chinese women. The overall aim of this study was to investigate the relationship between three susceptibility gene polymorphisms and PCOS in Hui ethnic women.151 patients with PCOS (case group and 99 healthy women (control group were recruited from the Reproductive Medicine Center of the General Hospital of Ningxia Medical University. Clinical data and serum hormone characteristics of case and control groups were collected and analyzed. The three susceptibility single-nucleotide polymorphisms have been replicated in both case and control groups. Gene polymorphisms were detected by direct sequencing after polymerase chain reaction.The Body Mass Index, LH, LH/FSH ratio and total testosterone were significantly elevated in PCOS patients compared to control group (P0.05.The present study suggested that the SNP rs13405728 in the LHCGR gene was associated with PCOS in Hui ethnic women, and its TT genotype characterized with higher level of TT, TG and LDL.

Hemodynamics Modeling and Simulation of Anterior Communicating Artery Aneurysms

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Jianjun Li

2014-07-01

Full Text Available It is a general agreement that hemodynamics plays very important role in the initiation, growth, and rupture of cerebral aneurysms and hemodynamics in the anterior communicating artery aneurysms is considered the most complex in all cerebral aneurysms and it is difficult to find some reasonable relationship between the hemodynamics parameters and the rupture risk. In this paper, the 3D geometries of four anterior communicating artery aneurysms were generated from the CTA data and the computational models with bilateral feeding arteries for the four aneurysms were constructed. The blood flow was simulated by computational fluid dynamics software and the hemodynamics parameters such as velocity, wall shear stress, and oscillatory shear index were calculated. The following results were observed: one of the four models only needs the left feeding artery; the max normalized wall shear stress locates at the aneurysmal neck of the largest aneurysm; the max oscillatory shear index locates at the aneurysmal sac of the largest aneurysm. The conclusion was drawn that the anterior communicating artery aneurysm has higher rupture risk from the hemodynamics viewpoint if the max wall shear stress locates at the neck and the max oscillatory shear index locates at the dome.

Comprehensive Clinical Phenotyping & Genetic Mapping for the Discovery of Autism Susceptibility Genes

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2012-12-05

teaching students with autism spectrum disorders 4.52 Learn strategies for incorporating IEP goals and district standard into daily teaching...W403 Columbus, OH 43205 Final Report Comprehensive Clinical Phenotyping & Genetic Mapping for the Discovery of Autism Susceptibility Genes...QFOXGHDUHDFRGH 1.0 Summary In 2006, the Central Ohio Registry for Autism (CORA) was initiated as a collaboration between Wright-Patterson Air

Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE.

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Anna Hellquist

2009-12-01

Full Text Available Systemic lupus erythematosus (SLE is a complex autoimmune disorder with multiple susceptibility genes. We have previously reported suggestive linkage to the chromosomal region 14q21-q23 in Finnish SLE families.Genetic fine mapping of this region in the same family material, together with a large collection of parent affected trios from UK and two independent case-control cohorts from Finland and Sweden, indicated that a novel uncharacterized gene, MAMDC1 (MAM domain containing glycosylphosphatidylinositol anchor 2, also known as MDGA2, MIM 611128, represents a putative susceptibility gene for SLE. In a combined analysis of the whole dataset, significant evidence of association was detected for the MAMDC1 intronic single nucleotide polymorphisms (SNP rs961616 (P -value = 0.001, Odds Ratio (OR = 1.292, 95% CI 1.103-1.513 and rs2297926 (P -value = 0.003, OR = 1.349, 95% CI 1.109-1.640. By Northern blot, real-time PCR (qRT-PCR and immunohistochemical (IHC analyses, we show that MAMDC1 is expressed in several tissues and cell types, and that the corresponding mRNA is up-regulated by the pro-inflammatory cytokines tumour necrosis factor alpha (TNF-alpha and interferon gamma (IFN-gamma in THP-1 monocytes. Based on its homology to known proteins with similar structure, MAMDC1 appears to be a novel member of the adhesion molecules of the immunoglobulin superfamily (IgCAM, which is involved in cell adhesion, migration, and recruitment to inflammatory sites. Remarkably, some IgCAMs have been shown to interact with ITGAM, the product of another SLE susceptibility gene recently discovered in two independent genome wide association (GWA scans.Further studies focused on MAMDC1 and other molecules involved in these pathways might thus provide new insight into the pathogenesis of SLE.

Intracranial Aneurysms of Neuro-Ophthalmologic Relevance.

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Micieli, Jonathan A; Newman, Nancy J; Barrow, Daniel L; Biousse, Valérie

2017-12-01

Intracranial saccular aneurysms are acquired lesions that often present with neuro-ophthalmologic symptoms and signs. Recent advances in neurosurgical techniques, endovascular treatments, and neurocritical care have improved the optimal management of symptomatic unruptured aneurysms, but whether the chosen treatment has an impact on neuro-ophthalmologic outcomes remains debated. A review of the literature focused on neuro-ophthalmic manifestations and treatment of intracranial aneurysms with specific relevance to neuro-ophthalmologic outcomes was conducted using Ovid MEDLINE and EMBASE databases. Cavernous sinus aneurysms were not included in this review. Surgical clipping vs endovascular coiling for aneurysms causing third nerve palsies was compared in 13 retrospective studies representing 447 patients. Complete recovery was achieved in 78% of surgical patients compared with 44% of patients treated with endovascular coiling. However, the complication rate, hospital costs, and days spent in intensive care were reported as higher in surgically treated patients. Retrospective reviews of surgical clipping and endovascular coiling for all ocular motor nerve palsies (third, fourth, or sixth cranial nerves) revealed similar results of complete resolution in 76% and 49%, respectively. Improvement in visual deficits related to aneurysmal compression of the anterior visual pathways was also better among patients treated with clipping than with coiling. The time to treatment from onset of visual symptoms was a predictive factor of visual recovery in several studies. Few reports have specifically assessed the improvement of visual deficits after treatment with flow diverters. Decisions regarding the choice of therapy for intracranial aneurysms causing neuro-ophthalmologic signs ideally should be made at high-volume centers with access to both surgical and endovascular treatments. The status of the patient, location of the aneurysm, and experience of the treating physicians

Research advances in susceptibility genes and their role in the pathogenesis of nonalcoholic fatty liver disease

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XUAN Shiying

2016-03-01

Full Text Available Currently the incidence of nonalcoholic fatty liver disease (NAFLD is increasing, and the age of onset is getting younger worldwide, resulting in a heavy economic burden for both individuals and the society. Since NAFLD is closely related to heredity, metabolism, and the environment, genetic factors play an important role in the development and progression of NAFLD. With the development and wide application of the techniques from the genome-wide association studies, new research advances have been achieved in the susceptibility genes of NAFLD. This review summarizes the related research findings at home and abroad, and investigates the pathogenic factors for NAFLD and related mechanisms with a focus on the polymorphisms of susceptibility genes.

The influence of neck thrombus on clinical outcome and aneurysm morphology after endovascular aneurysm repair

NARCIS (Netherlands)

F.M.V. Bastos Gonçalves (Frederico); H.J.M. Verhagen (Hence); K. Chinsakchai (Khamin); J.W. van Keulen (Jasper); M.T. Voûte (Michiel); H.J.A. Zandvoort (Herman); F.L. Moll (Frans); J.A. van Herwaarden (Joost)

2012-01-01

textabstractObjective: This study investigated the influence of significant aneurysm neck thrombus in clinical and morphologic outcomes after endovascular aneurysm repair (EVAR). Methods: The patient population was derived from a prospective EVAR database from two university institutions in The

Recurrence of ICA-PCoA aneurysms after neck clipping.

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Sakaki, T; Takeshima, T; Tominaga, M; Hashimoto, H; Kawaguchi, S

1994-01-01

Between 1975 and 1992, 2211 patients underwent aneurysmal neck clipping at the Nara Medical University clinic and associated hospitals. The aneurysm in 931 of these patients was situated at the junction of the internal carotid artery (ICA) and posterior communicating artery (PCoA). Seven patients were readmitted 4 to 17 years after the first surgery because of regrowth and rupture of an ICA-PCoA aneurysmal sac that had arisen from the residual neck. On angiograms obtained following aneurysmal neck clipping, a large primitive type of PCoA was demonstrated in six patients and a small PCoA in one. A small residual aneurysm was confirmed in only two patients and angiographically complete neck clipping in five. Recurrent ICA-PCoA aneurysms were separated into two types based on the position of the old clip in relation to the new growth. Type 1 aneurysms regrow from the entire neck and balloon eccentrically. In this type, it is possible to apply the clip at the neck as in conventional clipping for a ruptured aneurysm. Type 2 includes aneurysms in which the proximal portion of a previous clip is situated at the corner of the ICA and aneurysmal neck and the distal portion on the enlarged dome of the aneurysm, because the sac is regrowing from a portion of the residual neck. In this type of aneurysm, a Sugita fenestrated clip can occlude the residual neck, overriding the old clip. Classifying these aneurysms into two groups is very useful from a surgical point of view because it is possible to apply a new clip without removing the old clip, which was found to be adherent to surrounding tissue.

The Effect of Hemodynamics on Cerebral Aneurysm Morphology

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Metcalfe, Ralph; Mantha, Aishwarya; Karmonik, Christof; Strother, Charles

2004-11-01

One of the difficulties in applying principles of hemodynamics to the study of blood flow in aneurysms are the drastic variations in possible shape of both the aneurysms and the parent arteries in the region of interest. We have taken data from three para-opthalmic internal carotid artery aneurysms using 3D-digital subtraction angiography (3D-DSA) and performed CFD simulations of steady and unsteady flows through the three different cases using the same pressure gradients and pulsatile flow waveforms (based on the Ku model for flow through the Carotid bifurcation). We have found that the total pressure differential within the aneurysms is consistent with the direction of flow, and that the dynamic pressure gradient within the aneurysm is very small compared with the static pressure variations. Wall shear stresses were highest near regions of sharp arterial curvature, but always remained low inside the aneurysm. These results suggest a more complex role for hemodynamics in aneurysm generation, growth and rupture.

Morphological and clinical risk factors for posterior communicating artery aneurysm rupture.

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Matsukawa, Hidetoshi; Fujii, Motoharu; Akaike, Gensuke; Uemura, Akihiro; Takahashi, Osamu; Niimi, Yasunari; Shinoda, Masaki

2014-01-01

Recent studies have shown that posterior circulation aneurysms, specifically posterior communicating artery (PCoA) aneurysms, are more likely to rupture than other aneurysms. To date, few studies have investigated the factors contributing to PCoA aneurysm rupture. The authors aimed to identify morphological and clinical characteristics predisposing to PCoA aneurysm rupture. The authors retrospectively reviewed 134 consecutive patients with PCoA aneurysms managed at their facility between July 2003 and December 2012. The authors divided patients into groups of those with aneurysmal rupture (n = 39) and without aneurysmal rupture (n = 95) and compared morphological and clinical characteristics. Morphological characteristics were mainly evaluated by 3D CT angiography and included diameter of arteries (anterior cerebral artery, middle cerebral artery, and internal carotid artery), size of the aneurysm, dome-to-neck ratio, neck direction of the aneurysmal dome around the PCoA (medial, lateral, superior, inferior, and posterior), aneurysm bleb formation, whether the PCoA was fetal type, and the existence of other intracranial unruptured aneurysm(s). Patients with ruptured PCoA aneurysms were significantly younger (a higher proportion were PCoA aneurysms showed a lateral direction of the aneurysmal dome around the PCoA, had bleb formation, and the aneurysm was > 7 mm in diameter and/or the dome-to-neck ratio was > 2.0. Multivariate logistic regression analysis showed age PCoA (OR 6.7, p = 0.0001), and bleb formation (OR 11, p PCoA aneurysm rupture. The present results demonstrated that lateral projection of a PCoA aneurysm may be related to rupture.

Differential gene expression in response to Fusarium oxysporum infection in resistant and susceptible genotypes of flax (Linum usitatissimum L.).

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Dmitriev, Alexey A; Krasnov, George S; Rozhmina, Tatiana A; Novakovskiy, Roman O; Snezhkina, Anastasiya V; Fedorova, Maria S; Yurkevich, Olga Yu; Muravenko, Olga V; Bolsheva, Nadezhda L; Kudryavtseva, Anna V; Melnikova, Nataliya V

2017-12-28

Flax (Linum usitatissimum L.) is a crop plant used for fiber and oil production. Although potentially high-yielding flax varieties have been developed, environmental stresses markedly decrease flax production. Among biotic stresses, Fusarium oxysporum f. sp. lini is recognized as one of the most devastating flax pathogens. It causes wilt disease that is one of the major limiting factors for flax production worldwide. Breeding and cultivation of flax varieties resistant to F. oxysporum is the most effective method for controlling wilt disease. Although the mechanisms of flax response to Fusarium have been actively studied, data on the plant response to infection and resistance gene candidates are currently very limited. The transcriptomes of two resistant and two susceptible flax cultivars with respect to Fusarium wilt, as well as two resistant BC 2 F 5 populations, which were grown under control conditions or inoculated with F. oxysporum, were sequenced using the Illumina platform. Genes showing changes in expression under F. oxysporum infection were identified in both resistant and susceptible flax genotypes. We observed the predominant overexpression of numerous genes that are involved in defense response. This was more pronounced in resistant cultivars. In susceptible cultivars, significant downregulation of genes involved in cell wall organization or biogenesis was observed in response to F. oxysporum. In the resistant genotypes, upregulation of genes related to NAD(P)H oxidase activity was detected. Upregulation of a number of genes, including that encoding beta-1,3-glucanase, was significantly greater in the cultivars and BC 2 F 5 populations resistant to Fusarium wilt than in susceptible cultivars in response to F. oxysporum infection. Using high-throughput sequencing, we identified genes involved in the early defense response of L. usitatissimum against the fungus F. oxysporum. In response to F. oxysporum infection, we detected changes in the

Microneurosurgical management of anterior choroid artery aneurysms.

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Lehecka, Martin; Dashti, Reza; Laakso, Aki; van Popta, Jouke S; Romani, Rossana; Navratil, Ondrej; Kivipelto, Leena; Kivisaari, Riku; Foroughi, Mansoor; Kokuzawa, Jouji; Lehto, Hanna; Niemelä, Mika; Rinne, Jaakko; Ronkainen, Antti; Koivisto, Timo; Jääskelainen, Juha E; Hernesniemi, Juha

2010-05-01

Anterior choroid artery aneurysms (AChAAs) constitute 2%-5% of all intracranial aneurysms. They are usually small, thin walled with one or several arteries originating at their base, and often associated with multiple aneurysms. In this article, we review the practical microsurgical anatomy, the preoperative imaging, surgical planning, and the microneurosurgical steps in the dissection and the clipping of AChAAs. This review, and the whole series on intracranial aneurysms (IAs), are mainly based on the personal microneurosurgical experience of the senior author (J.H.) in two Finnish centers (Helsinki and Kuopio) that serve, without patient selection, the catchment area in Southern and Eastern Finland. These two centers have treated more than 10,000 patients with IAs since 1951. In the Kuopio Cerebral Aneurysm Database of 3005 patients with 4253 IAs, 831 patients (28%) had altogether 980 internal carotid artery (ICA) aneurysms, of whom 95 patients had 99 (2%) AChAAs. Ruptured AChAAs, found in 39 patients (41%), with median size of 6 mm (range = 2-19 mm), were associated with intracerebral hematoma (ICH) in only 1 (3%) patient. Multiple aneurysms were seen in 58 (61%) patients. The main difficulty in microneurosurgical management of AChAAs is to preserve flow in the anterior choroid artery originating at the base and often attached to the aneurysm dome. This necessitates perfect surgical strategy based on preoperative knowledge of 3 dimensional angioarchitecture and proper orientation during the microsurgical dissection. Copyright © 2010 Elsevier Inc. All rights reserved.

Postprocedural Monitoring of Cerebral Aneurysms

International Nuclear Information System (INIS)

Kaehaerae, V.

2006-01-01

The treatment of intracranial aneurysms has been revolutionized since the introduction of electrolytically detachable platinum coils in 1991. Since this basic innovation, many refinements of the embolic materials and techniques have emerged. Today, in Europe, half of all aneurysms are treated endoarterially and this share is growing. The reassuring results of the International Subarachnoid Aneurysm Trial (ISAT) have changed the treatment strategy from neurosurgical clipping to embolization. However, the role of these alternative modes of treatment varies between institutions and countries. An angiographic follow-up pattern after endovascular treatment has remained largely undefined and in the same way there has been much diversity in applying alternative imaging modalities. Although some institutions continue to perform intervalled digital subtraction angiography, magnetic resonance angiography has assumed an increasing role. A vast majority of patients with embolized aneurysms are eligible to be monitored solely by non-contrast three-dimensional time-of-flight technique

Surgical approach to posterior inferior cerebellar artery aneurysms.

Science.gov (United States)

La Pira, Biagia; Sturiale, Carmelo Lucio; Della Pepa, Giuseppe Maria; Albanese, Alessio

2018-02-01

The far-lateral is a standardised approach to clip aneurysms of the posterior inferior cerebellar artery (PICA). Different variants can be adopted to manage aneurysms that differ in morphology, topography, ruptured status, cerebellar swelling and surgeon preference. We distinguished five paradigmatic approaches aimed to manage aneurysms that are: proximal unruptured; proximal ruptured requiring posterior fossa decompression (PFD); proximal ruptured not requiring PFD; distal unruptured; distal ruptured. Preoperative planning in the setting of PICA aneurysm surgery is of paramount importance to perform an effective and safe procedure, to ensure an adequate PFD and optimal proximal control before aneurysm manipulation.

Impact of MCP-1 and CCR-2 gene polymorphisms on coronary artery disease susceptibility.

Science.gov (United States)

Lin, Hsiu-Ling; Ueng, Kwo-Chang; Hsieh, Yih-Shou; Chiang, Whei-Ling; Yang, Shun-Fa; Chu, Shu-Chen

2012-09-01

Coronary artery disease (CAD) was the second leading cause of death during the last 3 years in Taiwan. Smooth muscle cells, monocytes/macrophages, and endothelial cells produce monocyte chemoattractant protein-1 (MCP-1) within atherosclerotic plaques following binding to the chemokine receptor-2 (CCR-2). Previous studies have well-documented the association between MCP-1 expression and susceptibility to, or clinicopathological features, of CAD. This study investigated the relationships between MCP-1-2518A/G and CCR-2-V64I genetic polymorphisms and CAD in the Taiwanese population. A total of 608 subjects, including 392 non-CAD controls and 216 patients with CAD, were recruited and subjected to polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to evaluate the effects of these two polymorphic variants on CAD. Results indicated a significant association between MCP-1 -2548 gene polymorphism and susceptibility to CAD. GG genotypes (OR = 1.629; 95 % CI = 1.003-2.644), or individuals with at least one G allele (OR = 1.511; 95 % CI = 1.006-2.270), had a higher risk of CAD as compared with AA genotypes. Results also revealed that subjects with at least one A allele of the V64I CCR2 gene polymorphism had significantly increased risk of CAD. G allele in MCP-1-2518 might contribute to higher prevalence of atrial fibrillation in CAD patients (OR = 4.254; p CCR-2 64I gene polymorphisms represent important factors in determining susceptibility to CAD, and the contribution of MCP-1-2518G could be through effects on atrial fibrillation in CAD patients.

Complications of endovascular treatment of cerebral aneurysms

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Orrù, Emanuele, E-mail: surgeon.ema@gmail.com [Neuroradiology Department, Padua University Hospital, Via Giustiniani 2, Padua 35128 (Italy); Roccatagliata, Luca, E-mail: lroccatagliata@neurologia.unige.it [Neuroradiology Department, IRCCS San Martino University Hospital and IST, Largo Rosanna Benzi 10, Genoa 16132 (Italy); Department of Health Sciences (DISSAL), University of Genoa (Italy); Cester, Giacomo, E-mail: giacomo.cester@sanita.padova.it [Neuroradiology Department, Padua University Hospital, Via Giustiniani 2, Padua 35128 (Italy); Causin, Francesco, E-mail: francesco.causin@sanita.padova.it [Neuroradiology Department, Padua University Hospital, Via Giustiniani 2, Padua 35128 (Italy); Castellan, Lucio, E-mail: lucio.castellan@hsanmartino.it [Neuroradiology Department, IRCCS San Martino University Hospital and IST, Largo Rosanna Benzi 10, Genoa 16132 (Italy)

2013-10-01

The number of neuroendovascular treatments of both ruptured and unruptured aneurysms has increased substantially in the last two decades. Complications of endovascular treatments of cerebral aneurysms are rare but can potentially lead to acute worsening of the neurological status, to new neurological deficits or death. Some of the possible complications, such as vascular access site complications or systemic side effects associated with contrast medium (e.g. contrast medium allergy, contrast induced nephropathy) can also be encountered in diagnostic angiography. The most common complications of endovascular treatment of cerebral aneurysms are related to acute thromboembolic events and perforation of the aneurysm. Overall, the reported rate of thromboembolic complications ranges between 4.7% and 12.5% while the rate of intraprocedural rupture of cerebral aneurysms is about 0.7% in patients with unruptured aneurysms and about 4.1% in patients with previously ruptured aneurysms. Thromboembolic and hemorrhagic complications may occur during different phases of endovascular procedures and are related to different technical, clinical and anatomic reasons. A thorough knowledge of the different aspects of these complications can reduce the risk of their occurrence and minimize their clinical sequelae. A deep understanding of complications and of their management is thus part of the best standard of care.

MDM2 SNP309, gene-gene interaction, and tumor susceptibility: an updated meta-analysis

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Wu Wei

2011-05-01

Full Text Available Abstract Background The tumor suppressor gene p53 is involved in multiple cellular pathways including apoptosis, transcriptional control, and cell cycle regulation. In the last decade it has been demonstrated that the single nucleotide polymorphism (SNP at codon 72 of the p53 gene is associated with the risk for development of various neoplasms. MDM2 SNP309 is a single nucleotide T to G polymorphism located in the MDM2 gene promoter. From the time that this well-characterized functional polymorphism was identified, a variety of case-control studies have been published that investigate the possible association between MDM2 SNP309 and cancer risk. However, the results of the published studies, as well as the subsequent meta-analyses, remain contradictory. Methods To investigate whether currently published epidemiological studies can clarify the potential interaction between MDM2 SNP309 and the functional genetic variant in p53 codon72 (Arg72Pro and p53 mutation status, we performed a meta-analysis of the risk estimate on 27,813 cases with various tumor types and 30,295 controls. Results The data we reviewed indicated that variant homozygote 309GG and heterozygote 309TG were associated with a significant increased risk of all tumor types (homozygote comparison: odds ratio (OR = 1.25, 95% confidence interval (CI = 1.13-1.37; heterozygote comparison: OR = 1.10, 95% CI = 1.03-1.17. We also found that the combination of GG and Pro/Pro, TG and Pro/Pro, GG and Arg/Arg significantly increased the risk of cancer (OR = 3.38, 95% CI = 1.77-6.47; OR = 1.88, 95% CI = 1.26-2.81; OR = 1.96, 95% CI = 1.01-3.78, respectively. In a stratified analysis by tumor location, we also found a significant increased risk in brain, liver, stomach and uterus cancer (OR = 1.47, 95% CI = 1.06-2.03; OR = 2.24, 95%CI = 1.57-3.18; OR = 1.54, 95%CI = 1.04-2.29; OR = 1.34, 95%CI = 1.07-1.29, respectively. However, no association was seen between MDM2 SNP309 and tumor susceptibility

FGF receptor genes and breast cancer susceptibility

DEFF Research Database (Denmark)

Agarwal, D; Pineda, S; Michailidou, K

2014-01-01

Background:Breast cancer is one of the most common malignancies in women. Genome-wide association studies have identified FGFR2 as a breast cancer susceptibility gene. Common variation in other fibroblast growth factor (FGF) receptors might also modify risk. We tested this hypothesis by studying...... genotyped single-nucleotide polymorphisms (SNPs) and imputed SNPs in FGFR1, FGFR3, FGFR4 and FGFRL1 in the Breast Cancer Association Consortium.Methods:Data were combined from 49 studies, including 53 835 cases and 50 156 controls, of which 89 050 (46 450 cases and 42 600 controls) were of European ancestry......, 12 893 (6269 cases and 6624 controls) of Asian and 2048 (1116 cases and 932 controls) of African ancestry. Associations with risk of breast cancer, overall and by disease sub-type, were assessed using unconditional logistic regression.Results:Little evidence of association with breast cancer risk...

Genome Wide Association Study of SNP-, Gene-, and Pathway-based Approaches to Identify Genes Influencing Susceptibility to Staphylococcus aureus Infections

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Zhan eYe

2014-05-01

Full Text Available Background: We conducted a genome-wide association study (GWAS to identify specific genetic variants that underlie susceptibility to disease caused by Staphylococcus aureus in humans. Methods: Cases (n=309 and controls (n=2,925 were genotyped at 508,921 single nucleotide polymorphisms (SNPs. Cases had at least one laboratory and clinician confirmed disease caused by S. aureus whereas controls did not. R-package (for SNP association, EIGENSOFT (to estimate and adjust for population stratification and gene- (VEGAS and pathway-based (DAVID, PANTHER, and Ingenuity Pathway Analysis analyses were performed.Results: No SNP reached genome-wide significance. Four SNPs exceeded the pConclusion: We identified potential susceptibility genes for S. aureus diseases in this preliminary study but confirmation by other studies is needed. The observed associations could be relevant given the complexity of S. aureus as a pathogen and its ability to exploit multiple biological pathways to cause infections in humans.

Computed tomographic diagnosis of pulmonary artery aneurysm

International Nuclear Information System (INIS)

Maeno, Kouji; Kontani, Kazuhiro; Ito, Makoto; Sakurai, Noboru; Sawada, Taisei; Fukeda, Yasuhiko; Takata, Shigeo; Ikeda, Takayuki; Hattori, Nobu.

1986-01-01

Pulmonary artery aneurysms are rare lesions. Clagett et al reported that one aneurysm of the pulmonary artery may be found in approximately 14,000 necropsies. We have experienced a case of giant pulmonary artery aneurysm confirmed by computed tomography. A 38 year-old man with atrial septal defect admitted to Kanazawa City Hospital. He had been pointed out of a right hilar mass when he was 26 years old. His complaint was bloody sputum and cough. Pulmonary angiography was not useful for the definite diagnosis because of its mural thrombi. Enhanced computed tomography showed a giant pulmonary artery aneurysm with a mural thrombi in its cavity. This shows that enhanced computed tomography is very useful for the diagnosis of a pulmonary artery aneurysm with a mural thrombi in its cavity. (author)

Computed tomographic diagnosis of pulmonary artery aneurysm

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Maeno, Kouji; Kontani, Kazuhiro; Ito, Makoto; Sakurai, Noboru; Sawada, Taisei; Fukeda, Yasuhiko; Takata, Shigeo; Ikeda, Takayuki; Hattori, Nobu

1986-05-01

Pulmonary artery aneurysms are rare lesions. Clagett et al reported that one aneurysm of the pulmonary artery may be found in approximately 14,000 necropsies. We have experienced a case of giant pulmonary artery aneurysm confirmed by computed tomography. A 38 year-old man with atrial septal defect admitted to Kanazawa City Hospital. He had been pointed out of a right hilar mass when he was 26 years old. His complaint was bloody sputum and cough. Pulmonary angiography was not useful for the definite diagnosis because of its mural thrombi. Enhanced computed tomography showed a giant pulmonary artery aneurysm with a mural thrombi in its cavity. This shows that enhanced computed tomography is very useful for the diagnosis of a pulmonary artery aneurysm with a mural thrombi in its cavity.

Antimicrobial susceptibility and occurrence of resistance genes among Salmonella enterica serovar Weltevreden from different countries

DEFF Research Database (Denmark)

Aarestrup, Frank Møller; Lertworapreecha, M.; Evans, M.C.

2003-01-01

and gentamicin. All nine ampicillin-resistant isolates contained a sequence similar to the bla(TEM-1b) gene, one of the eight chloramphenicol-resistant isolates a sequence similar to the catA1 gene, all three neomycin-resistant isolates a sequence similar to the aphA-2 gene, 16 (73%) of the 22 streptomycin...... isolates were examined for susceptibility to antimicrobial agents, and resistant isolates were examined for the presence of selected resistance genes by PCR. Results: Only 48 (9.5%) of the isolates were resistant to one or more of the antimicrobial agents tested. A low frequency of resistance was found...

Advances in endovascular aneurysm treatment: are we making a difference?

International Nuclear Information System (INIS)

Katz, Jeffrey M.; Ougorets, Igor; Tsiouris, Apostolos J.; Biondi, Alessandra; Salvaggio, Kimberly A.; Gobin, Y. Pierre; Stieg, Philip E.; Riina, Howard A.

2005-01-01

Recent advancements in endovascular aneurysm repair, including bioactive and expansile coils and intracranial stents, hold promise for improved aneurysm occlusion rates. We report the immediate and midterm clinical and angiographic outcomes of a consecutive series of patients treated since the advent of these technologies. Clinical and radiological records of 134 patients with 142 aneurysms treated between 2001 and 2004 were retrospectively evaluated by an independent neurologist. Endovascular procedures were analyzed by an independent neuroradiologist blinded to all clinical information. Seventy-two ruptured and 60 un-ruptured saccular aneurysms, nine fusiform and one post-traumatic aneurysm were treated. Matrix coils were used in 53% of saccular aneurysms and HydroCoils in 13% of all aneurysms. Neuroform stents were deployed in 19% of aneurysms. Angiographic total or subtotal occlusion was achieved in 76% of cases and in 96% at last follow-up. Aneurysm recanalization was observed in 14% over a mean follow-up of 12 months, and 18% of aneurysms were retreated. Clinically relevant complications occurred in 6.0%, resulting in procedure-related morbidity of 0.6% and 0.6% mortality at 6 months. No aneurysm bled over a cumulative 1,347 months of observation. Newer embolization technologies can be exploited successfully even in more complex aneurysms with very low morbidity and mortality. (orig.)

Intravenous DSA as a screening method for cerebral aneurysms

International Nuclear Information System (INIS)

Fukaya, Hiroyuki; Sunami, Kaneo; Hoshi, Seiichiro; Komiya, Hirokazu; Saeki, Naokatsu.

1990-01-01

Intravenous DSA (IVDSA) was evaluated as a screening method for cerebral aneurysms. It was performed 390 times in 372 cases. Clinically useful images were obtained in 94.1% in all examinations. Nineteen aneurysms were visualized in cerebral angiography among 21 cases with SAH or 3rd nerve palsy, whereas in IVDSA 15 aneurysms were noted. Aneurysms not visualized in IVDSA were all 4 mm or less in size. Therefore, aneurysms, more than 4 mm in size, which have higher risks for rupture, were detectable in IVDSA. Based on these findings, IVDSA is considered to be clinically useful in screening for aneurysms. In all 372 cases, 33 aneurysms were suspected in IVDSA findings, whereas in cerebral angiography 21 of them turned to be aneurysms. Such 12 false positive cases were distributed mainly at anterior communicating and middle cerebral arteries. Improvement of image resolution, avoidance of vessel overlapping and proper selection of screened cases should be investigated for further development of this screening method. (author)

Aneurysm pulsatility after endovascular exclusion: an experimental study using human aortic aneurysms

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Hussein Amin Orra

2008-01-01

Full Text Available OBJECTIVE: To measure the pulsatility of human aneurysms before and after complete exclusion with an endograft. METHOD: Five aortic aneurysms obtained during necropsy were submitted to pulsatile perfusion before and after implantation of a bifurcated endograft. The specimens were contained in a closed chamber filled with saline solution. A vertical tube attached to the chamber was used to measure volume dislocation in each systole. Mural thrombus was kept intact, and the space around the device was filled with human blood. After each experiment, the aneurysm was opened to check for the correct positioning and attachment of the device. RESULTS: The level of the saline column oscillated during pulsation in each case, with respective amplitudes of 17, 16, 13, 7, and 25 cm before the endograft insertion. After the insertion, the amplitudes dropped to 13, 12, 9, 3.5, and 23 cm, respectively. The differences were not significant. During the post-experimental examination, all devices were found to be in position and well attached to the neck and iliacs. No endoleak was detected during perfusion or by visual inspection. CONCLUSION: Pulsation of an endograft is transmitted to the aneurysm wall even in the absence of endoleak, and should not be interpreted as procedural failure.

[Albert Einstein and his abdominal aortic aneurysm].

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Cervantes Castro, Jorge

2011-01-01

The interesting case of Albert Einstein's abdominal aortic aneurysm is presented. He was operated on at age 69 and, finding that the large aneurysm could not be removed, the surgeon elected to wrap it with cellophane to prevent its growth. However, seven years later the aneurysm ruptured and caused the death of the famous scientist.

Abciximab for thrombolysis during intracranial aneurysm coiling

International Nuclear Information System (INIS)

Gralla, Jan; Rennie, Adam T.M.; Corkill, Rufus A.; Lalloo, Shivendra T.; Molyneux, Andrew; Byrne, James V.; Kuker, Wilhem

2008-01-01

Thrombotic events are a common and severe complication of endovascular aneurysm treatment with significant impact on patients' outcome. This study evaluates risk factors for thrombus formation and assesses the efficacy and safety of abciximab for clot dissolution. All patients treated with abciximab during (41 patients) or shortly after (22 patients) intracranial aneurysm coil embolisation were retrieved from the institutional database (2000 to 2007, 1,250 patients). Sixty-three patients (mean age, 55.3 years, ±12.8) had received either intra-arterial or intravenous abciximab. Risk factors for clot formation were assessed and the angiographic and clinical outcome evaluated. No aneurysm rupture occurred during or after abciximab application. The intra-procedural rate of total recanalisation was 68.3%. Thromboembolic complications were frequently found in aneurysms of the Acom complex and of the basilar artery, whilst internal carotid artery aneurysms were underrepresented. Two patients died of treatment-related intracranial haemorrhages into preexisting cerebral infarcts. Two patients developed a symptomatic groin haematoma. Abciximab is efficacious and safe for thrombolysis during and after endovascular intracranial aneurysm treatment in the absence of preexisting ischaemic stroke. (orig.)

Maximum Diameter Measurements of Aortic Aneurysms on Axial CT Images After Endovascular Aneurysm Repair: Sufficient for Follow-up?

International Nuclear Information System (INIS)

Baumueller, Stephan; Nguyen, Thi Dan Linh; Goetti, Robert Paul; Lachat, Mario; Seifert, Burkhardt; Pfammatter, Thomas; Frauenfelder, Thomas

2011-01-01

Purpose: To assess the accuracy of maximum diameter measurements of aortic aneurysms after endovascular aneurysm repair (EVAR) on axial computed tomographic (CT) images in comparison to maximum diameter measurements perpendicular to the intravascular centerline for follow-up by using three-dimensional (3D) volume measurements as the reference standard. Materials and Methods: Forty-nine consecutive patients (73 ± 7.5 years, range 51–88 years), who underwent EVAR of an infrarenal aortic aneurysm were retrospectively included. Two blinded readers twice independently measured the maximum aneurysm diameter on axial CT images performed at discharge, and at 1 and 2 years after intervention. The maximum diameter perpendicular to the centerline was automatically measured. Volumes of the aortic aneurysms were calculated by dedicated semiautomated 3D segmentation software (3surgery, 3mensio, the Netherlands). Changes in diameter of 0.5 cm and in volume of 10% were considered clinically significant. Intra- and interobserver agreements were calculated by intraclass correlations (ICC) in a random effects analysis of variance. The two unidimensional measurement methods were correlated to the reference standard. Results: Intra- and interobserver agreements for maximum aneurysm diameter measurements were excellent (ICC = 0.98 and ICC = 0.96, respectively). There was an excellent correlation between maximum aneurysm diameters measured on axial CT images and 3D volume measurements (r = 0.93, P < 0.001) as well as between maximum diameter measurements perpendicular to the centerline and 3D volume measurements (r = 0.93, P < 0.001). Conclusion: Measurements of maximum aneurysm diameters on axial CT images are an accurate, reliable, and robust method for follow-up after EVAR and can be used in daily routine.

Training model for cerebral aneurysm clipping

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Hiroshi Tenjin, M.D., Ph.D.

2017-12-01

Full Text Available Clipping of cerebral aneurysms is still an important skill in neurosurgery. We have made a training model for the clipping of cerebral aneurysms. The concepts for the model were 1: training model for beginners, 2: three dimensional manipulation using an operating microscope, 3: the aneurysm model is to be perfused by simulated blood causing premature rupture. The correct relationship between each tissue, and softness of the brain and vessels were characteristics of the model. The skull, brain, arteries, and veins were made using a 3D printer with data from DICOM. The brain and vessels were made from polyvinyl alcohol (PVA. One training course was held and this model was useful for training of cerebral aneurysm surgery for young neurosurgeons.

The calcitonin receptor gene is a candidate for regulation of susceptibility to herpes simplex type 1 neuronal infection leading to encephalitis in rat.

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Nada Abdelmagid

Full Text Available Herpes simplex encephalitis (HSE is a fatal infection of the central nervous system (CNS predominantly caused by Herpes simplex virus type 1. Factors regulating the susceptibility to HSE are still largely unknown. To identify host gene(s regulating HSE susceptibility we performed a genome-wide linkage scan in an intercross between the susceptible DA and the resistant PVG rat. We found one major quantitative trait locus (QTL, Hse1, on rat chromosome 4 (confidence interval 24.3-31 Mb; LOD score 29.5 governing disease susceptibility. Fine mapping of Hse1 using recombinants, haplotype mapping and sequencing, as well as expression analysis of all genes in the interval identified the calcitonin receptor gene (Calcr as the main candidate, which also is supported by functional studies. Thus, using unbiased genetic approach variability in Calcr was identified as potentially critical for infection and viral spread to the CNS and subsequent HSE development.

Models of experimental saccular aneurysms of carotid arteries in canine

International Nuclear Information System (INIS)

Zhang Haixia; Cheng Yingsheng; Li Minghua

2006-01-01

Objective: To study the availability by making experimental saccular aneurysm models of carotid arteries in canine similar to human intracranial aneurysms. Methods: Twenty healthy canines with experimental saccular side-wall aneurysms of carotid arteries were created successfully by surgery. Results: Forty experimental saccular side-wall aneurysms of carotid arteries were created successfully with 36 aneurysms and parent arteries maintaining patency with each other and four spontaneously occluded confirmed by angiography. Model successful rate reached 90%. Conclusions: Experimental saccular side-wall aneurysms of carotid arteries in canines were one of best models created for simulating human intracranial aneurysms. (authors)

Impact of Right-Sided Aneurysm, Rupture Status, and Size of Aneurysm on Perforator Infarction Following Microsurgical Clipping of Posterior Communicating Artery Aneurysms with a Distal Transsylvian Approach.

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Tanabe, Jun; Ishikawa, Tatsuya; Moroi, Junta; Sakata, Yoshinori; Hadeishi, Hiromu

2018-03-01

Posterior communicating artery (PCoA) aneurysms are among the most common aneurysms. Because blockage of the PCoA and perforators can cause adverse outcomes, occlusion of these arteries by surgical clipping should be avoided. The impact of factors on PCoA perforator infarction when using a distal transsylvian approach for PCoA aneurysms was examined. A total of 183 patients underwent PCoA aneurysm clipping, excluding application of fenestrated clips. Patients were divided into 2 groups: patients with PCoA perforator infarction (infarction group) and patients without infarction (noninfarction group). Multiple factors were analyzed in the 2 groups. Twenty-two of the 183 patients (12.0%) showed perforator infarction, mainly on magnetic resonance imaging evaluation, resulting in permanent deficits in 2 patients (1.1%). The proportion of right-sided operations (86.4% vs. 53.4%; P = 0.005) and surgery for rupture (90.9% vs. 55.9%; P = 0.002) were significantly higher in the infarction group than in the noninfarction group. Aneurysms were significantly larger in the infarction group (8.4 ± 3.8 mm) than in the noninfarction group (6.3 ± 3.0 mm; P = 0.02). Ruptured status (odds ratio [OR], 7.35; P = 0.01), right side (OR, 5.19; P = 0.01), and aneurysm size (OR, 1.18; P = 0.02) remained independent predictors of perforator infarction on multivariate logistic regression analysis. Ruptured status, right side, and large PCoA aneurysm were independent predictors of PCoA perforator infarction. Symptoms due to PCoA perforating infarction were mostly transient and rarely affected outcomes. Copyright © 2018 Elsevier Inc. All rights reserved.

Endovascular Aneurysm Repair of Acute Occlusion of Abdominal Aortic Aneurysm with Intra-Aneurysmal Dissection.

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Terai, Yasuhiko; Mitsuoka, Hiroshi; Nakai, Masanao; Goto, Shinnosuke; Miyano, Yuta; Tsuchiya, Hirokazu; Yamazaki, Fumio

2015-11-01

To report a rare case of acute abdominal aortic aneurysm (AAA) occlusion successfully treated by endovascular aneurysm repair (EVAR). An 89-year-old man complained of severe back pain and weakness in the bilateral lower extremities. Although there were neither acute ischemic signs on the brain computed tomography (CT) nor critical leg ischemia, the patient presented progressing weakness in the bilateral lower extremities and decreased sensation in the perianal and saddle area. Contrast-enhanced CT demonstrated an infrarenal AAA, the formation of an ulcer-like lesion in the aneurysmal wall, and the complete occlusion of distal AAA because of the caudal extension of intramural hematoma. Both common iliac arteries were patent because of the development of collateral vessels. The neurologic symptoms were considered to be caused by the occlusion of lumbar radicular arteries. EVAR seemed anatomically feasible, if the occlusion could be crossed by guidewires from both side of the common femoral artery. Wires easily traversed the occlusion, and the stent graft could be smoothly unwrapped and opened. The patient could recover decent iliac arterial flow. The neurovascular deficits recovered within 4 days after the procedure. Although our experience may not be reproduced in all case of AAA occlusion, EVAR warrants consideration to reduce the high mortality rate associated with the classical treatments. Copyright © 2015 Elsevier Inc. All rights reserved.

Management of aneurysmal subarachnoid hemorrhage.

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Etminan, N; Macdonald, R L

2017-01-01

Spontaneous subarachnoid hemorrhage (SAH) affects people with a mean age of 55 years. Although there are about 9/100 000 cases per year worldwide, the young age and high morbidity and mortality lead to loss of many years of productive life. Intracranial aneurysms account for 85% of cases. Despite this, the majority of survivors of aneurysmal SAH have cognitive deficits, mood disorders, fatigue, inability to return to work, and executive dysfunction and are often unable to return to their premorbid level of functioning. The main proven interventions to improve outcome are aneurysm repair in a timely fashion by endovascular coiling rather than neurosurgical clipping when feasible and administration of nimodipine. Management also probably is optimized by neurologic intensive care units and multidisciplinary teams. Improved diagnosis, early aneurysm repair, administration of nimodipine, and advanced neurointensive care support may be responsible for improvement in survival from SAH in the last few decades. © 2017 Elsevier B.V. All rights reserved.

Surgical management of giant posterior communicating artery aneurysms.

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Velat, Gregory J; Zabramski, Joseph M; Nakaji, Peter; Spetzler, Robert F

2012-09-01

Giant posterior communicating artery (PCoA) aneurysms (> 25 mm) are rare lesions associated with a poor prognosis and high rates of morbidity and mortality. To review the clinical results of giant PCoA aneurysms surgically treated at our institution, focusing on operative nuances. All cases of giant PCoA aneurysms treated surgically at our institution were identified from a prospectively maintained patient database. Patient demographic factors, medical comorbidities, rupture status, neurological presentation, clinical outcomes, and surgical records were critically reviewed. From 1989 to 2010, 11 patients (10 women) underwent surgical clipping of giant PCoA aneurysms. Presenting signs and symptoms included cranial nerve palsies, diminished mental status, headache, visual changes, and seizures. Five aneurysms were ruptured on admission. All aneurysms were clipped primarily except 1, which was treated by parent artery sacrifice and extracranial-to-intracranial bypass after intraoperative aneurysm rupture. Perioperative morbidity and mortality rates were 36% (4 of 11) and 18.3% (2 of 11), respectively. Excellent or good clinical outcomes, defined as modified Rankin Scale scores ≤ 2, were achieved in 86% (5 of 6) of patients available for long-term clinical follow-up (mean, 12.5 ± 13.6 months). Giant PCoA aneurysms are rare vascular lesions that may present with a variety of neurological signs and symptoms. These lesions can be successfully managed surgically with satisfactory morbidity and mortality rates. To the best of our knowledge, this is the largest surgical series of giant PCoA aneurysms published to date.

Individualized management for intracranial vertebral artery dissecting aneurysms

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SHANG Yan-guo

2012-02-01

Full Text Available Objective To discuss the individualized management strategy for intracranial vertebral artery dissecting aneurysms. Methods Eighteen patients with intracranial vertebral artery dissecting aneurysms were treated with different surgical methods. Results Eighteen patients underwent different surgical treatment. Five patients underwent complete occlusion of the aneurysm and parent artery by coiling, 5 were treated by stent -assisted coiling (3 densely packed coiling and 2 non-densely packed coiling, 4 underwent stent-only therapy and 3 of them presented hemodynamic improvement after surgery, 3 were treated by direct surgical clipping, and 1 underwent occipital artery-posterior inferior cerebellar artery bypass. Two aneurysms ruptured immaturely, in which one patient died on the third day after operation and one patient occurred moderate disablity. Only 1 patient who underwent complete occlusion of aneurysm and parent artery presented temporarily ischemic symptoms. No adverse effects were seen in other patients. Seventeen patients were followed up for 1 month to 3 years, and all the aneurysms were stable. Conclusion There are many kinds of therapeutic methods for intracranial vertebral artery dissecting aneurysms. The patients should be treated according to several factors such as the clinical manifestations, aneurysm configuration, and relationship with the posterior inferior cerebellar artery. The treatment should be individualized.

Value of three-dimensional computed tomography in screening cerebral aneurysms

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Yamaguchi, Tamaki; Sugiura, Yusuke; Suzuki, Atsushi; Yamagata, Yoshitaka [Hyogo Medical Coll. (Japan)

1997-10-01

We performed three-dimensional computed tomography (3D-CT) in 6 patients of cerebral aneurysm. Prior cerebral angiography showed a total of 17 aneurysms. 3D-CT alone detected 10 cerebral aneurysm (59%). It was possible to identify aneurysms larger than 10 mm even when located near the circle of Willis. It was difficult to identify aneurysms when smaller than 7 mm regardless of their location. 3D-CT was of limited value in detecting cerebral aneurysms, particularly when located near the circle of Willis with complex vascular network. As cases of oculomotor palsy may be caused by lesions other than cerebral aneurysm, we advocate that 3D-CT be performed after magnetic resonance imaging (MRI) in screening cases of suspected cerebral aneurysm. (author)

Shape-memory polymer foam device for treating aneurysms

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Ortega, Jason M.; Benett, William J.; Small, Ward; Wilson, Thomas S.; Maitland, Duncan J; Hartman, Jonathan

2017-05-30

A system for treating an aneurysm in a blood vessel or vein, wherein the aneurysm has a dome, an interior, and a neck. The system includes a shape memory polymer foam in the interior of the aneurysm between the dome and the neck. The shape memory polymer foam has pores that include a first multiplicity of pores having a first pore size and a second multiplicity of pores having a second pore size. The second pore size is larger than said first pore size. The first multiplicity of pores are located in the neck of the aneurysm. The second multiplicity of pores are located in the dome of the aneurysm.

Intracranial aneurysms: evaluation in 200 patients with spiral CT angiography

International Nuclear Information System (INIS)

Young, N.; Kingston, R.J.; Markson, G.; Dorsch, N.W.C.; McMahon, J.

2001-01-01

The goal of this study was to assess the usefulness of spiral CT angiography (CTA) with three- dimensional reconstructions in defining intracranial aneurysms, particularly around the Circle of Willis. Two hundred consecutive patients with angiographic and/or surgical correlation were studied between 1993 and 1998, with CTA performed on a GE HiSpeed unit and Windows workstation. The following clinical situations were evaluated: conventional CT suspicion of an aneurysm; follow-up of treated aneurysm remnants or of untreated aneurysms; subarachnoid haemorrhage (SAH) and negative angiography; family or past aneurysm history; and for improved definition of aneurysm anatomy. Spiral CTA detected 140 of 144 aneurysms, and an overall sensitivity of 97%, including 30 of 32 aneurysms 3 mm or less in size. In 38 patients with SAH and negative angiography, CTA found six of the seven aneurysms finally diagnosed. There was no significant artefact in 17 of 23 patients (74%) with clips. The specificity of CTA was 86% with 8 false-positive cases. Spiral CTA is very useful in demonstrating intracranial aneurysms. (orig.)

Comparison of esterase gene amplification, gene expression and esterase activity in insecticide susceptible and resistant strains of the brown planthopper, Nilaparvata lugens (Stål).

Science.gov (United States)

Vontas, J G; Small, G J; Hemingway, J

2000-12-01

Organophosphorus and carbamate insecticide resistance in Nilaparvata lugens is based on amplification of a carboxylesterase gene, Nl-EST1. An identical gene occurs in susceptible insects. Quantitative real-time PCR was used to demonstrate that Nl-EST1 is amplified 3-7-fold in the genome of resistant compared to susceptible planthoppers. Expression levels were similar to amplification levels, with 1-15-fold more Nl-EST1 mRNA in individual insects and 5-11-fold more Nl-EST1 mRNA in mass whole body homogenates of resistant females compared to susceptibles. These values corresponded to an 8-10-fold increase in esterase activity in the head and thorax of individual resistant insects. Although amplification, expression and activity levels of Nl-EST1 in resistant N. lugens were similar, the correlation between esterase activity and Nl-EST1 mRNA levels in resistant individuals was not linear.

Cerebral aneurysms – an audit

African Journals Online (AJOL)

Enrique

Abstract. We performed an audit to determine the profile of cerebral aneurysms at the Universitas Hospital Bloem- fontein, the only government hospital with a vascular suite in the Free State and Northern Cape area. Two hun- dred and twenty-three government patients, diagnosed with cerebral aneurysms during the period.

The detection and differentiation of methicillin-resistant and methicillin-susceptible Staphylococcus aureus endocarditis by using the BD GeneOhm StaphSR Assay.

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Frey, Amy B; Wilson, Deborah A; LaSalvia, Margaret M; Tan, Carmela D; Rodriguez, E Rene; Shrestha, Nabin K; Hall, Gerri S; Procop, Gary W

2011-11-01

We use the BD GeneOhm StaphSR Assay (BD Diagnostics, Oakville, Canada) to screen for Staphylococcus aureus nasal colonization and sought to evaluate this assay for the assessment of valve specimens from patients with endocarditis. We examined 23 paired fresh and formalin-fixed, paraffin-embedded cardiac valve tissue samples, 12 of which had S aureus endocarditis, using the BD GeneOhm StaphSR Assay for the detection and differentiation of methicillin-susceptible and methicillin-resistant S aureus. This assay appropriately characterized all specimens with respect to the presence or absence of S aureus. There was an 87.5% correlation between the presence or absence of the mecA gene and the oxacillin susceptibility results for the S aureus isolates studied. The GeneOhm StaphSR assay accurately detected S aureus in cardiac valve tissue samples. Rare discordances were observed between oxacillin susceptibility status and mecA gene detection by this assay.

HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer.

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Angeline S Andrew

Full Text Available Bladder cancer is the 4(th most common cancer among men in the U.S. We analyzed variant genotypes hypothesized to modify major biological processes involved in bladder carcinogenesis, including hormone regulation, apoptosis, DNA repair, immune surveillance, metabolism, proliferation, and telomere maintenance. Logistic regression was used to assess the relationship between genetic variation affecting these processes and susceptibility in 563 genotyped urothelial cell carcinoma cases and 863 controls enrolled in a case-control study of incident bladder cancer conducted in New Hampshire, U.S. We evaluated gene-gene interactions using Multifactor Dimensionality Reduction (MDR and Statistical Epistasis Network analysis. The 3'UTR flanking variant form of the hormone regulation gene HSD3B2 was associated with increased bladder cancer risk in the New Hampshire population (adjusted OR 1.85 95%CI 1.31-2.62. This finding was successfully replicated in the Texas Bladder Cancer Study with 957 controls, 497 cases (adjusted OR 3.66 95%CI 1.06-12.63. The effect of this prevalent SNP was stronger among males (OR 2.13 95%CI 1.40-3.25 than females (OR 1.56 95%CI 0.83-2.95, (SNP-gender interaction P = 0.048. We also identified a SNP-SNP interaction between T-cell activation related genes GATA3 and CD81 (interaction P = 0.0003. The fact that bladder cancer incidence is 3-4 times higher in males suggests the involvement of hormone levels. This biologic process-based analysis suggests candidate susceptibility markers and supports the theory that disrupted hormone regulation plays a role in bladder carcinogenesis.

Magnetic resonance imaging of large and giant intracranial aneurysms

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Matsumura, Kenichi; Saito, Akira; Nakasu, Yoko; Matsuda, Masayuki; Handa, Jyoji [Shiga University of Medical Science, Shiga (Japan); Todo, Giro

1990-06-01

Twelve large or giant intracranial aneurysms were studied with magnetic resonance (MR) imaging, and the findings were compared with those from computed tomographic (CT) scanning. Characteristic MR features of such aneurysms are: round, extra-axial mass with hypointensity rim; signal void, paradoxical enhancement, or even-echo rephasing due to blood flow; and laminated, eccentric thrombus with increased signal intensity when fresh, perianeurysmal hemorrhage occurs in the acute or subacute stage after aneurysmal rupture. MR imaging, however, often fails to identify or characterize the area of calcification. For the diagnosis of large or giant intracranial aneurysms, MR imaging is apparently superior to CT scanning in differentiating aneurysms from tumors, delineating the blood flow and intraluminal thrombus, and detecting the exact size of the aneurysm. It may also provide useful information concerning the growth mechanisms of aneurysms with or without thrombus formation. (author).

Evaluation of polymorphisms in pbp4 gene and genetic diversity in penicillin-resistant, ampicillin-susceptible Enterococcus faecalis from hospitals in different states in Brazil.

Science.gov (United States)

Infante, Victor Hugo Pacagnelli; Conceição, Natália; de Oliveira, Adriana Gonçalves; Darini, Ana Lúcia da Costa

2016-04-01

The aim of the present study was to verify whether penicillin-resistant, ampicillin-susceptible Enterococcus faecalis (PRASEF) occurred in Brazil prior to the beginning of the 21st century, and to verify whether ampicillin susceptibility can predict susceptibility to other β-lactams in E. faecalis with this inconsistent phenotype. The presence of polymorphisms in the pbp4 gene and genetic diversity among the isolates were investigated. Of 21 PRASEF analyzed, 5 (23.8%) and 4 (19.0%) were imipenem and piperacillin resistant simultaneously by disk diffusion and broth dilution respectively, contradicting the current internationally accepted standards of susceptibility testing. Sequencing of pbp4 gene revealed an amino acid substitution (Asp-573→Glu) in all PRASEF isolates but not in the penicillin-susceptible, ampicillin-susceptible E. faecalis. Most PRASEF (90.5%) had related pulsed-field gel electrophoresis profiles, but were different from other PRASEF described to date. Results demonstrate that penicillin-resistant, ampicillin-susceptible phenotype was already a reality in the 1990s in E. faecalis isolates in different Brazilian states, and some of these isolates were also imipenem- and piperacillin-resistant; therefore, internationally accepted susceptibility criteria cannot be applied to these isolates. According to pbp4 gene sequencing, this study suggests that a specific amino acid substitution in pbp4 gene found in all PRASEF analyzed is associated with penicillin resistance. © FEMS 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Polymorphisms in miRNA genes and their involvement in autoimmune diseases susceptibility.

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Latini, Andrea; Ciccacci, Cinzia; Novelli, Giuseppe; Borgiani, Paola

2017-08-01

MicroRNAs (miRNAs) are small non-coding RNA molecules that negatively regulate the expression of multiple protein-encoding genes at the post-transcriptional level. MicroRNAs are involved in different pathways, such as cellular proliferation and differentiation, signal transduction and inflammation, and play crucial roles in the development of several diseases, such as cancer, diabetes, and cardiovascular diseases. They have recently been recognized to play a role also in the pathogenesis of autoimmune diseases. Although the majority of studies are focused on miRNA expression profiles investigation, a growing number of studies have been investigating the role of polymorphisms in miRNA genes in the autoimmune diseases development. Indeed, polymorphisms affecting the miRNA genes can modify the set of targets they regulate or the maturation efficiency. This review is aimed to give an overview about the available studies that have investigated the association of miRNA gene polymorphisms with the susceptibility to various autoimmune diseases and to their clinical phenotypes.

Identification of susceptibility genes for bipolar affective disorder and schizophrenia on chromosome 22q13

DEFF Research Database (Denmark)

Severinsen, Jacob Eg

2006-01-01

Linkage analyses suggest that chromosome 22q12-13 may harbor one or more shared susceptibility loci for bipolar affective disorder (BPD) and schizophrenia (SZ). In a study of distantly related cases and control individuals from the Faeroe Islands our group has previously reported that chromosome 22...... samples (total of 1,751 individuals), and by bioinformatic and expression analyses of a subset of disease associated genes and gene variants. In total 67 single nucleotide polymorphisms (SNPs) located in 18 positional candidate genes, and 4 microsattelite markers were investigated, using a Scottish case...

RETRACTED: Association of the ACE I/D gene polymorphism with sepsis susceptibility and sepsis progression.

Science.gov (United States)

Yang, Chun-Hua; Zhou, Tian-Biao

2015-12-01

This article has been included in a multiple retraction: Chun-Hua Yang and Tian-Biao Zhou Association of the ACE I/D gene polymorphism with sepsis susceptibility and sepsis progression Journal of Renin-Angiotensin-Aldosterone System 1470320314568521, first published on February 3, 2015 doi: 10.1177/1470320314568521 This article has been retracted at the request of the Editors and the Publisher. After conducting a thorough investigation, SAGE found that the submitting authors of a number of papers published in the Journal of the Renin-Angiotensin Aldosterone System ( JRAAS) (listed below) had supplied fabricated contact details for their nominated reviewers. The Editors accepted these papers based on the reports supplied by the individuals using these fake reviewer email accounts. After concluding that the peer review process was therefore seriously compromised, SAGE and the journal Editors have decided to retract all affected articles. Online First articles (these articles will not be published in an issue) Wenzhuang Tang, Tian-Biao Zhou, and Zongpei Jiang Association of the angiotensinogen M235T gene polymorphism with risk of diabetes mellitus developing into diabetic nephropathy Journal of Renin-Angiotensin-Aldosterone System 1470320314563426, first published on December 18, 2014 doi: 10.1177/1470320314563426 Tian-Biao Zhou, Hong-Yan Li, Zong-Pei Jiang, Jia-Fan Zhou, Miao-Fang Huang, and Zhi-Yang Zhou Role of renin-angiotensin-aldosterone system inhibitors in radiation nephropathy Journal of Renin-Angiotensin-Aldosterone System 1470320314563424, first published on December 18, 2014 doi: 10.1177/1470320314563424 Weiqiang Zhong, Zongpei Jiang, and Tian-Biao Zhou Association between the ACE I/D gene polymorphism and T2DN susceptibility: The risk of T2DM developing into T2DN in the Asian population Journal of Renin-Angiotensin-Aldosterone System 1470320314566019, first published on January 26, 2015 doi: 10.1177/1470320314566019 Tian-Biao Zhou, Xue-Feng Guo, Zongpei

Mapping of Mcs30, a new mammary carcinoma susceptibility quantitative trait locus (QTL30 on rat chromosome 12: identification of fry as a candidate Mcs gene.

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Xuefeng Ren

Full Text Available Rat strains differ dramatically in their susceptibility to mammary carcinogenesis. On the assumption that susceptibility genes are conserved across mammalian species and hence inform human carcinogenesis, numerous investigators have used genetic linkage studies in rats to identify genes responsible for differential susceptibility to carcinogenesis. Using a genetic backcross between the resistant Copenhagen (Cop and susceptible Fischer 344 (F344 strains, we mapped a novel mammary carcinoma susceptibility (Mcs30 locus to the centromeric region on chromosome 12 (LOD score of ∼8.6 at the D12Rat59 marker. The Mcs30 locus comprises approximately 12 Mbp on the long arm of rat RNO12 whose synteny is conserved on human chromosome 13q12 to 13q13. After analyzing numerous genes comprising this locus, we identified Fry, the rat ortholog of the furry gene of Drosophila melanogaster, as a candidate Mcs gene. We cloned and determined the complete nucleotide sequence of the 13 kbp Fry mRNA. Sequence analysis indicated that the Fry gene was highly conserved across evolution, with 90% similarity of the predicted amino acid sequence among eutherian mammals. Comparison of the Fry sequence in the Cop and F344 strains identified two non-synonymous single nucleotide polymorphisms (SNPs, one of which creates a putative, de novo phosphorylation site. Further analysis showed that the expression of the Fry gene is reduced in a majority of rat mammary tumors. Our results also suggested that FRY activity was reduced in human breast carcinoma cell lines as a result of reduced levels or mutation. This study is the first to identify the Fry gene as a candidate Mcs gene. Our data suggest that the SNPs within the Fry gene contribute to the genetic susceptibility of the F344 rat strain to mammary carcinogenesis. These results provide the foundation for analyzing the role of the human FRY gene in cancer susceptibility and progression.

Giant aneurysm in 6 years old child - case report

International Nuclear Information System (INIS)

Sirakov, S.; Penkov, M.; Todorov, Y; Minkin, K.

2014-01-01

Intracranial saccular aneurysms rare in childhood is. Even among the reported series of childhood aneurysms, it is unusual to find their occurrence in children less than 7 years old. The pathogenesis of these lesions is also a matter of debate and speculations. The peak age of incidence of juvenile cerebral aneurysms appear to be 12 years, occurrence below the age of 7 being rarity. We show a case of 6 years old boy with giant aneurysm. found because of episodes of headache and vomiting. Discussion of pathogenesis for the rare pathology. After discussion of multidisciplinary team, of neuroradiologist and neurosurgeons was decided to be perform endovascular embolization, because of the better outcome for the patient. We performed endovascular treatment of the aneurysm with achieving total embolization. The patient recovery completely, and after 4 days went home. (authors) Key words: GIANT ANEURYSM. SACCULAR ANEURYSM. EMBOLIZATION. STENT ASSISTED COILING

Genetic susceptibility loci, environmental exposures, and Parkinson's disease: a case-control study of gene-environment interactions.

Science.gov (United States)

Chung, Sun Ju; Armasu, Sebastian M; Anderson, Kari J; Biernacka, Joanna M; Lesnick, Timothy G; Rider, David N; Cunningham, Julie M; Ahlskog, J Eric; Frigerio, Roberta; Maraganore, Demetrius M

2013-06-01

Prior studies causally linked mutations in SNCA, MAPT, and LRRK2 genes with familial Parkinsonism. Genome-wide association studies have demonstrated association of single nucleotide polymorphisms (SNPs) in those three genes with sporadic Parkinson's disease (PD) susceptibility worldwide. Here we investigated the interactions between SNPs in those three susceptibility genes and environmental exposures (pesticides application, tobacco smoking, coffee drinking, and alcohol drinking) also associated with PD susceptibility. Pairwise interactions between environmental exposures and 18 variants (16 SNPs and two variable number tandem repeats, or "VNTRs") in SNCA, MAPT and LRRK2, were investigated using data from 1098 PD cases from the upper Midwest, USA and 1098 matched controls. Environmental exposures were assessed using a validated telephone interview script. Five pairwise interactions had uncorrected P-values coffee drinking × MAPT H1/H2 haplotype or MAPT rs16940806, and alcohol drinking × MAPT rs2435211. None of these interactions remained significant after Bonferroni correction. Secondary analyses in strata defined by type of control (sibling or unrelated), sex, or age at onset of the case also did not identify significant interactions after Bonferroni correction. This study documented limited pairwise interactions between established genetic and environmental risk factors for PD; however, the associations were not significant after correction for multiple testing. Copyright © 2013 Elsevier Ltd. All rights reserved.

Hemodynamic response during aneurysm clipping surgery among experienced neurosurgeons.

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Bunevicius, Adomas; Bilskiene, Diana; Macas, Andrius; Tamasauskas, Arimantas

2016-02-01

Neurosurgery is a challenging field associated with high levels of mental stress. The goal of this study was to investigate the hemodynamic response of experienced neurosurgeons during aneurysm clipping surgery and to evaluate whether neurosurgeons' hemodynamic responses are associated with patients' clinical statuses. Four vascular neurosurgeons (all male; mean age 51 ± 10 years; post-residency experience ≥7 years) were studied during 42 aneurysm clipping procedures. Blood pressure (BP) and heart rate (HR) were assessed at rest and during seven phases of surgery: before the skin incision, after craniotomy, after dural opening, after aneurysm neck dissection, after aneurysm clipping, after dural closure and after skin closure. HR and BP were significantly greater during surgery relative to the rest situation (p ≤ 0.03). There was a statistically significant increase in neurosurgeons' HR (F [6, 41] = 10.88, p neurosurgeon experience, the difference in BP as a function of aneurysm rupture was not significant (p > 0.08). Aneurysm location, intraoperative aneurysm rupture, admission WFNS score, admission Glasgow Coma Scale scores and Fisher grade were not associated with neurosurgeons' intraoperative HR and BP (all p > 0.07). Aneurysm clipping surgery is associated with significant hemodynamic system activation among experienced neurosurgeons. The greatest HR and BP were after aneurysm neck dissection and clipping. Aneurysm location and patient clinical status were not associated with intraoperative changes of neurosurgeons' HR and BP.

Is tube repair of aortic aneurysm followed by aneurysmal change in the common iliac arteries?

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Provan, J L; Fialkov, J; Ameli, F M; St Louis, E L

1990-10-01

To address the concern that tube repair of an abdominal aortic aneurysm might be followed by aneurysmal change in the common iliac arteries, 23 patients who had undergone the operation were re-examined 3 to 5 years later. Although 9 had had minimal ectasia of these arteries preoperatively, in none of the 23 was there symptomatic or radiologic evidence of aneurysmal change on follow-up. Measurements of the maximum intraluminal diameters were made by computed tomography; they indicated no significant differences between the preoperative and follow-up sizes of the common iliac arteries. The variation in time to follow-up also showed no significant correlation with change in artery diameter.

Endovascular treatment of renal aneurysms: A series of 18 cases

International Nuclear Information System (INIS)

Sédat, J.; Chau, Y.; Baque, J.

2012-01-01

Purpose: To retrospectively analyze the results and complications of the endovascular treatment of 18 renal aneurysms. Methods: From 2002 to 2011, 15 patients (aged 31–76), with 18 renal aneurysms, were admitted in our institution for treatment by embolization. Except one, all were wide-necked aneurysms. One aneurysm was treated by occluding the parent artery considering its distal location; a small-necked aneurysm was treated by simple coiling, and the remaining 16 were embolized utilizing adjunctive techniques to protect the parent artery. We analyzed the rates of technical success, complication and clinical consequence, post-operative occlusion and recurrence. Results: There was a 100% technical success rate. 15 aneurysms showed a total occlusion on the post-treatment angiogram. 2 aneurysms demonstrated neck remnants, and one had an intrasaccular residual in-flow. Two minor post-operative complications were encountered but resolved over time. No delayed clinical complications were observed and the long-term angiographic follow-up demonstrated stability of the occlusion of the target renal aneurysm with no major recurrence. Conclusion: Complications of the embolization of renal aneurysms are rare. Endovascular treatment should therefore be considered at first for the treatment of renal aneurysms.

Systematic Prioritization and Integrative Analysis of Copy Number Variations in Schizophrenia Reveal Key Schizophrenia Susceptibility Genes

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Luo, Xiongjian; Huang, Liang; Han, Leng; Luo, Zhenwu; Hu, Fang; Tieu, Roger; Gan, Lin

2014-01-01

Schizophrenia is a common mental disorder with high heritability and strong genetic heterogeneity. Common disease-common variants hypothesis predicts that schizophrenia is attributable in part to common genetic variants. However, recent studies have clearly demonstrated that copy number variations (CNVs) also play pivotal roles in schizophrenia susceptibility and explain a proportion of missing heritability. Though numerous CNVs have been identified, many of the regions affected by CNVs show poor overlapping among different studies, and it is not known whether the genes disrupted by CNVs contribute to the risk of schizophrenia. By using cumulative scoring, we systematically prioritized the genes affected by CNVs in schizophrenia. We identified 8 top genes that are frequently disrupted by CNVs, including NRXN1, CHRNA7, BCL9, CYFIP1, GJA8, NDE1, SNAP29, and GJA5. Integration of genes affected by CNVs with known schizophrenia susceptibility genes (from previous genetic linkage and association studies) reveals that many genes disrupted by CNVs are also associated with schizophrenia. Further protein-protein interaction (PPI) analysis indicates that protein products of genes affected by CNVs frequently interact with known schizophrenia-associated proteins. Finally, systematic integration of CNVs prioritization data with genetic association and PPI data identifies key schizophrenia candidate genes. Our results provide a global overview of genes impacted by CNVs in schizophrenia and reveal a densely interconnected molecular network of de novo CNVs in schizophrenia. Though the prioritized top genes represent promising schizophrenia risk genes, further work with different prioritization methods and independent samples is needed to confirm these findings. Nevertheless, the identified key candidate genes may have important roles in the pathogenesis of schizophrenia, and further functional characterization of these genes may provide pivotal targets for future therapeutics and

Morphology parameters for intracranial aneurysm rupture risk assessment.

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Dhar, Sujan; Tremmel, Markus; Mocco, J; Kim, Minsuok; Yamamoto, Junichi; Siddiqui, Adnan H; Hopkins, L Nelson; Meng, Hui

2008-08-01

The aim of this study is to identify image-based morphological parameters that correlate with human intracranial aneurysm (IA) rupture. For 45 patients with terminal or sidewall saccular IAs (25 unruptured, 20 ruptured), three-dimensional geometries were evaluated for a range of morphological parameters. In addition to five previously studied parameters (aspect ratio, aneurysm size, ellipticity index, nonsphericity index, and undulation index), we defined three novel parameters incorporating the parent vessel geometry (vessel angle, aneurysm [inclination] angle, and [aneurysm-to-vessel] size ratio) and explored their correlation with aneurysm rupture. Parameters were analyzed with a two-tailed independent Student's t test for significance; significant parameters (P 41; 95% confidence interval, 1.03-1.92) and undulation index (odds ratio, 1.51; 95% confidence interval, 1.08-2.11) had the strongest independent correlation with ruptured IA. From the receiver operating characteristic analysis, size ratio and aneurysm angle had the highest area under the curve values of 0.83 and 0.85, respectively. Size ratio and aneurysm angle are promising new morphological metrics for IA rupture risk assessment. Because these parameters account for vessel geometry, they may bridge the gap between morphological studies and more qualitative location-based studies.

Infectious or Noninfectious? Ruptured, Thrombosed Inflammatory Aortic Aneurysm with Spondylolysis

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Stefanczyk, Ludomir; Elgalal, Marcin, E-mail: telgalal@yahoo.co.uk [Medical University of Lodz, Department of Radiology and Diagnostic Imaging (Poland); Papiewski, Andrzej [Medical University of Lodz, Department of Gastroenterological Surgery (Poland); Szubert, Wojciech [Medical University of Lodz, Department of Radiology and Diagnostic Imaging (Poland); Szopinski, Piotr [Institute of Hematology and Transfusion Medicine, Clinic of Vascular Surgery (Poland)

2013-06-15

Osteolysis of vertebrae due to inflammatory aortic aneurysm is rarely observed. However, it is estimated that up to 10 % of infectious aneurysms coexist with bone tissue destruction, most commonly the vertebrae. Inflammatory aneurysms with no identified infection factor, along with infiltration of adjacent muscle and in particular extensive destruction of bone tissue have rarely been described in the literature. A case of inflammatory aneurysm with posterior wall rupture and inflammatory infiltration of the iliopsoas muscle and spine, together with extensive vertebral body destruction, is presented. The aneurysm was successfully treated with endovascular aneurysm repair EVAR.

Infectious or Noninfectious? Ruptured, Thrombosed Inflammatory Aortic Aneurysm with Spondylolysis

International Nuclear Information System (INIS)

Stefańczyk, Ludomir; Elgalal, Marcin; Papiewski, Andrzej; Szubert, Wojciech; Szopiński, Piotr

2013-01-01

Osteolysis of vertebrae due to inflammatory aortic aneurysm is rarely observed. However, it is estimated that up to 10 % of infectious aneurysms coexist with bone tissue destruction, most commonly the vertebrae. Inflammatory aneurysms with no identified infection factor, along with infiltration of adjacent muscle and in particular extensive destruction of bone tissue have rarely been described in the literature. A case of inflammatory aneurysm with posterior wall rupture and inflammatory infiltration of the iliopsoas muscle and spine, together with extensive vertebral body destruction, is presented. The aneurysm was successfully treated with endovascular aneurysm repair EVAR.

Comprehensive Overview of Contemporary Management Strategies for Cerebral Aneurysms.

Science.gov (United States)

Manhas, Amitoz; Nimjee, Shahid M; Agrawal, Abhishek; Zhang, Jonathan; Diaz, Orlando; Zomorodi, Ali R; Smith, Tony; Powers, Ciarán J; Sauvageau, Eric; Klucznik, Richard P; Ferrell, Andrew; Golshani, Kiarash; Stieg, Philip E; Britz, Gavin W

2015-10-01

Aneurysmal subarachnoid hemorrhage (SAH) remains an important health issue in the United States. Despite recent improvements in the diagnosis and treatment of cerebral aneurysms, the mortality rate following aneurysm rupture. In those patients who survive, up to 50% are left severely disabled. The goal of preventing the hemorrhage or re-hemorrhage can only be achieved by successfully excluding the aneurysm from the circulation. This article is a comprehensive review by contemporary vascular neurosurgeons and interventional neuroradiolgists on the modern management of cerebral aneurysms. Copyright © 2015 Elsevier Inc. All rights reserved.

Sac Angiography and Glue Embolization in Emergency Endovascular Aneurysm Repair for Ruptured Abdominal Aortic Aneurysm

Energy Technology Data Exchange (ETDEWEB)

Koike, Yuya, E-mail: r06118@hotmail.co.jp; Nishimura, Jun-ichi, E-mail: jun-ichi-n@nifty.com; Hase, Soichiro, E-mail: haseman@hotmail.co.jp; Yamasaki, Motoshige, E-mail: genyamasaki@gmail.com [Kawasaki Saiwai Hospital, Department of Interventional Radiology (Japan)

2015-04-15

PurposeThe purpose of this study was to demonstrate a sac angiography technique and evaluate the feasibility of N-butyl cyanoacrylate (NBCA) embolization of the ruptured abdominal aortic aneurysm (AAA) sac in emergency endovascular aneurysm repair (EVAR) in hemodynamically unstable patients.MethodsA retrospective case series of three patients in whom sac angiography was performed during emergency EVAR for ruptured AAA was reviewed. After stent graft deployment, angiography within the sac of aneurysm (sac angiography) was performed by manually injecting 10 ml of contrast material through a catheter to identify the presence and site of active bleeding. In two patients, sac angiography revealed active extravasation of the contrast material, and NBCA embolization with a coaxial catheter system was performed to achieve prompt sealing.ResultsSac angiography was successful in all three patients. In the two patients who underwent NBCA embolization for aneurysm sac bleeding, follow-up computed tomography (CT) images demonstrated the accumulation of NBCA consistent with the bleeding site in preprocedural CT images.ConclusionsEVAR is associated with a potential risk of ongoing bleeding from type II or IV endoleaks into the disrupted aneurysm sac in patients with severe coagulopathy. Therefore, sac angiography and NBCA embolization during emergency EVAR may represent a possible technical improvement in the treatment of ruptured AAA in hemodynamically unstable patients.

Treatment strategy for ruptured abdominal aortic aneurysms.

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Davidovic, L

2014-07-01

Rupture is the most serious and lethal complication of the abdominal aortic aneurysm. Despite all improvements during the past 50 years, ruptured abdominal aortic aneurysms are still associated with very high mortality. Namely, including patients who die before reaching the hospital, the mortality rate due to abdominal aortic aneurysm rupture is 90%. On the other hand, during the last twenty years, the number of abdominal aortic aneurysms significantly increased. One of the reasons is the fact that in majority of countries the general population is older nowadays. Due to this, the number of degenerative AAA is increasing. This is also the case for patients with abdominal aortic aneurysm rupture. Age must not be the reason of a treatment refusal. Optimal therapeutic option ought to be found. The following article is based on literature analysis including current guidelines but also on my Clinics significant experience. Furthermore, this article show cases options for vascular medicine in undeveloped countries that can not apply endovascular procedures at a sufficient level and to a sufficient extent. At this moment the following is evident. Thirty-day-mortality after repair of ruptured abdominal aortic aneurysms is significantly lower in high-volume hospitals. Due to different reasons all ruptured abdominal aortic aneurysms are not suitable for EVAR. Open repair of ruptured abdominal aortic aneurysm should be performed by experienced open vascular surgeons. This could also be said for the treatment of endovascular complications that require open surgical conversion. There is no ideal procedure for the treatment of AAA. Each has its own advantages and disadvantages, its own limits and complications, as well as indications and contraindications. Future reductions in mortality of ruptured abdominal aortic aneurysms will depend on implementation of population-based screening; on strategies to prevent postoperative organ injury and also on new medical technology

A fluid-structure interaction study using patient-specific ruptured and unruptured aneurysm: the effect of aneurysm morphology, hypertension and elasticity.

Science.gov (United States)

Lee, C J; Zhang, Y; Takao, H; Murayama, Y; Qian, Y

2013-09-27

Fluid-structure interaction (FSI) simulations using five patient-specific aneurysm geometries are carried out to investigate the difference between ruptured and unruptured aneurysms. Two different blood pressure conditions (normal and hypertension, for all cases), and two different values of elastic modulus (1 and 2MPa, for two cases) are tested. Ruptured aneurysms (RA) generally displayed larger displacement at the dome, lower area-average WSS and higher von Mises stress than unruptured aneurysms (URA) regardless of elasticity or blood pressure condition. RAs had a longitudinal expansion whereas URAs had a radial expansion, which was the key difference between the two types. The difference in expansion pattern may be one of the keys to explaining aneurysm rupture, and further analysis is required in the future to confirm this theory. Copyright © 2013 Elsevier Ltd. All rights reserved.

Lipoprotein (a): a potential biological marker for unruptured intracranial aneurysms.

Science.gov (United States)

Phillips, J; Roberts, G; Bolger, C; el Baghdady, A; Bouchier-Hayes, D; Farrell, M; Collins, P

1997-05-01

The diagnosis and treatment of intracranial aneurysms (IAs) prior to rupture reduces the high morbidity and mortality associated with their occurrence. Elevated serum lipoprotein (a) [Lp(a)] level, an independent risk factor for atherogenesis, has been demonstrated in sporadic IA disease (1). The purpose of this study was to assess the degree of correlation between elevated Lp(a) levels and the occurrence of IAs in asymptomatic first degree relatives of index cases from three families exhibiting a familial tendency towards IA development. 25 family members and 41 healthy controls were screened by random serum Lp(a) sampling. All family members received 4-vessel cerebral angiography. Eleven family members were found on angiography to harbour asymptomatic aneurysms and all were successfully treated by surgery. Of these 11, ten had significantly raised serum Lp(a) levels (> 30 mg%). Fourteen family members had negative angiograms. Eight of this latter group, mean age 43.6 +/- 3.8 years, had serum Lp(a) levels above the normal range. Mean Lp(a) levels were 53.7 +/- 1.2 mg% in subjects with aneurysms compared with 22.1 +/- 1.45 mg% in subjects without demonstrable aneurysms and 10.5 +/- 0.48 mg% in the control population. The prevalence of elevated Lp(a) levels in these families and the high degree of association of raised Lp(a) levels with the presence of IAs in several family members warrants follow up of angiographically negative young subjects. We require a case-control study to establish whether particular polymorphisms at the apoprotein (a) gene level are associated with the occurrence of IAs in these families.

[Transesophageal echocardiography diagnosis of ruptured aneurysm of the Valsalva sinus associated with aneurysm of the interatrial septum].

Science.gov (United States)

Imperadore, Ferdinando; Ferro, Aldo; Graffigna, Angelo; Vergara, Giuseppe

2002-01-01

Aneurysms of the sinus of Valsalva are uncommon heart defects that often remain undetected unless rupture occurs. They have been reported in association with other cardiac anomalies. The present case report deals with a 51-year-old man who was referred to our division with a diagnosis of recent-onset progressive heart failure. Echocardiographic evaluation, both transthoracic and transesophageal, disclosed rupture of an aneurysm of the non-coronary sinus of Valsalva into the right atrium. This anomaly was associated with an aneurysm of the atrial septum.

CT findings of subarachnoid hemorrhage due to ruptured cerebral aneurysm

International Nuclear Information System (INIS)

Kim, Pyo Nyun; Bae, Won Kyung; Kim, Il Young; Lee, Kyung Soo; Lee, Byoung Ho; Kim, Ki Jung

1990-01-01

CT scans were analysed retrospectively in 130 patients with subarachnoid hemorrhage (SAH) due to ruptured cerebral aneurysm to evaluate the relationship of the locations of aneurysms and the patterns of hemorrhage. Hemorrhage corresponded to the site of aneurysmal origin in a general way and in more specific ways to anterior communicating and middle cerebral artery aneurysms when there was parenchymal or cisternal hemorrhage. In anterior communicating artery aneurysm, SAH in the interhemispheric fissure, both sylvian fissures, and basal cistern was usually noted and intracerebral hemorrhage in anteroinferior frontal lobe was sometimes associated. In cases of middle cerebral artery aneurysm, hemorrhage in the ipsilateral sylvian fissure, interhemispheric fissure, and ipsilateral basal cistern was usual. Intracerebral hemorrhage in lateral temporal lobe was sometimes associated. Posterior communicating artery aneurysm demonstrated SAH in the ipsilateral basal cistern or in entire cisternal spaces specifically, so with higher incidence of involvement of the quadrigeminal and superior cerebellar cistern than anterior cerebral or middle cerebral artery aneurysm. We suggest the locations of aneurysm might be predicted with patterns of SAH and / or associated intracerebral hemorrhage with CT

Endoport-Assisted Microsurgical Treatment of a Ruptured Periventricular Aneurysm

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Ching-Jen Chen

2016-01-01

Full Text Available Background and Importance. Ruptured periventricular aneurysms in patients with moyamoya disease represent challenging pathologies. The most common methods of treatment include endovascular embolization and microsurgical clipping. However, rare cases arise in which the location and anatomy of the aneurysm make these treatment modalities particularly challenging. Clinical Presentation. We report a case of a 34-year-old female with moyamoya disease who presented with intraventricular hemorrhage. CT angiography and digital subtraction angiography revealed an aneurysm located in the wall of the atrium of the right lateral ventricle. Distal endovascular access was not possible, and embolization risked the sacrifice of arteries supplying critical brain parenchyma. Using the BrainPath endoport system, the aneurysm was able to be accessed. Since the fusiform architecture of the aneurysm prevented clip placement, the aneurysm was ligated with electrocautery. Conclusion. We demonstrate the feasibility of endoport-assisted approach for minimally invasive access and treatment of uncommon, distally located aneurysms.

Traumatic intracranial aneurysm: a case report

International Nuclear Information System (INIS)

Kang, Si Won; Chun, Kyung Ah; Baik, Joon Hyun; Shin, Kyung Sub

1994-01-01

The occurrence of traumatic aneurysm is rare in head injury, but this complication is important as it is a potentially treatable cause delayed onset of intracranial hemorrhage. Authors report one case of traumatic aneurysm involving A1 and A2 junction of anterior cerebral artery. A-28-year-old man with traffic accident was examined with brain CT and cerebral angiography. 1) Brain CT: Initial scan shows multiple skull fractures involving right frontal bones with subarachnoid hemorrhage and pneumocephalus. Follow-up scan shows intracerebral hemorrhage at bilateral frontal lobes. 2) Cerebral angiography: A traumatic aneurysm which is slowly filling and delayed emptying is noted at the junctional portion of A1 and A2 segment of the anterior cerebral artery. This report demonstrates radiologic findings of traumatic aneurysm at anterior cerebral artery with the brief review of the literatures

Differential Gene Expression Profile in the Rat Caudal Vestibular Nucleus is Associated with Individual Differences in Motion Sickness Susceptibility.

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Jun-Qin Wang

Full Text Available To identify differentially expressed genes associated with motion sickness (MS susceptibility in the rat caudal vestibular nucleus.We identified MS susceptible (MSS and insusceptible (inMSS rats by quantifying rotation-induced MS symptoms: defecation and spontaneous locomotion activity. Microarray analysis was used to screen differentially expressed genes in the caudal vestibular nucleus (CVN after rotation. Plasma stress hormones were identified by radioimmunoassay. Candidate genes were selected by bioinformatics analysis and the microarray results were verified by real-time quantitative-PCR (RT-qPCR methods. By using Elvax implantation, receptor antagonists or recombinant adenovirus targeting the candidate genes were applied to the CVN to evaluate their contribution to MS susceptibility variability. Validity of gene expression manipulation was verified by RT-qPCR and western blot analysis.A total of 304 transcripts were differentially expressed in the MSS group compared with the inMSS group. RT-qPCR analysis verified the expression pattern of candidate genes, including nicotinic cholinergic receptor (nAchR α3 subunit, 5-hydroxytryptamine receptor 4 (5-HT4R, tachykinin neurokinin-1 (NK1R, γ-aminobutyric acid A receptor (GABAAR α6 subunit, olfactory receptor 81 (Olr81 and homology 2 domain-containing transforming protein 1 (Shc1. In MSS animals, the nAchR antagonist mecamylamine significantly alleviated rotation-induced MS symptoms and the plasma β-endorphin response. The NK1R antagonist CP99994 and Olr81 knock-down were effective for the defecation response, while the 5-HT4R antagonist RS39604 and Shc1 over-expression showed no therapeutic effect. In inMSS animals, rotation-induced changes in spontaneous locomotion activity and the plasma β-endorphin level occurred in the presence of the GABAAR antagonist gabazine.Our findings suggested that the variability of the CVN gene expression profile after motion stimulation might be a putative

Glypican-4 gene polymorphism (rs1048369) and susceptibility to Epstein-Barr virus-associated and -negative gastric carcinoma.

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Zhao, Danrui; Liu, Shuzhen; Sun, Lingling; Zhao, Zhenzhen; Liu, Song; Kuang, Xiaojing; Shu, Jun; Luo, Bing

2016-07-15

Gastric cancer (GC) is one of the most common malignant tumors in China and single nucleotide polymorphisms (SNPs) have been found to be highly related to GC carcinogenesis. Glypican-4 (GPC4), a member of the heparan sulphate proteoglycan family, plays an important role in the regulation of cell growth and differentiation. However, little is known about polymorphisms of GPC4 gene and their associated susceptibility to GC, especially to Epstein-Barr virus-associated GC (EBVaGC). Here we studied the GPC4 polymorphism (rs1048369) in GC individuals, especially those with EBVaGC, and we explored an association between the GPC4 gene polymorphism (rs1048369) and susceptibility to EBVaGC and Epstein-Barr virus-negative GC (EBVnGC) in a population from Northern China. The GPC4 gene polymorphism (rs1048369) was detected in 54 cases of EBVaGC and 73 cases of EBVnGC using polymerase chain reaction (PCR). One hundred and seven peripheral blood samples from healthy individuals were also measured as a control group. There were significant differences in both the genotype and allelic frequency of GPC4 gene (rs1048369) between the EBVaGC and EBVnGC patients. Meanwhile, the distribution of genotype and allelic frequency of GPC4 (rs1048369) differed between EBVaGC and control groups. Distribution of the GPC4 genotype also revealed differences between EBVnGC and control groups, no significant differences in the allelic frequency of the GPC4 gene (rs1048369) were observed. The frequency of the T allele in EBVaGC group was significantly higher than that in control and EBVnGC groups. The GPC4 gene polymorphism and the allele of GPC4 are both associated with susceptibility to EBVaGC. The T allele of GPC4 may represent a risk factor for EBVaGC. Copyright © 2016 Elsevier B.V. All rights reserved.

Search of type 2 diabetes susceptibility gene on chromosome 20q

International Nuclear Information System (INIS)

Takeuchi, F.; Yanai, K.; Inomata, H.; Kuzuya, N.; Kajio, H.; Honjo, S.; Takeda, N.; Kaburagi, Y.; Yasuda, K.; Shirasawa, S.; Sasazuki, T.; Kato, N.

2007-01-01

Significant evidence of linkage to type 2 diabetes (T2D) has been shown in a relatively broad region on chromosome 20q, where the hepatocyte nuclear factor-4α (HNF4A) has been noted as a positional candidate. To systematically evaluate genetic susceptibility to T2D in the relevant region, we examined the disease association by using 1145 SNPs in two-step screening in the Japanese population. The marker screening enabled us to identify significant disease association in the lipopolysaccharide binding protein (LBP) but not in the HNF4A locus. In a 17.7-Mb interval screened, the strongest association was identified for a SNP, rs2232592, located in the intron of LBP, with an estimated odds ratio of 1.73 (95% CI 1.30-2.31) (P 0.0002) in the whole study panel involving 675 case and 474 control subjects. Our data suggest that the LBP gene may confer genetic susceptibility to T2D and this warrants further replication study

Construct canine intracranial aneurysm model by endovascular technique

International Nuclear Information System (INIS)

Liang Xiaodong; Liu Yizhi; Ni Caifang; Ding Yi

2004-01-01

Objective: To construct canine bifurcation aneurysms suitable for evaluating the exploration of endovascular devices for interventional therapy by endovascular technique. Methods: The right common carotid artery of six dogs was expanded with a pliable balloon by means of endovascular technique, then embolization with detached balloon was taken at their originations DAS examination were performed on 1, 2, 3 d after the procedurse. Results: 6 aneurysm models were created in six dogs successfully with the mean width and height of the aneurysms decreasing in 3 days. Conclusions: This canine aneurysm model presents the virtue in the size and shape of human cerebral bifurcation saccular aneurysms on DSA image, suitable for developing the exploration of endovascular devices for aneurismal therapy. The procedure is quick, reliable and reproducible. (authors)

Nuclear medical diagnostic with ventricular aneurysm

International Nuclear Information System (INIS)

Litter, H.

1987-01-01

In the diagnostic of ventricular aneurysms myocardial scintigraphy and above all radionuclide ventriculography (RNV) have special importance. Because of the non-invasive method and the as a result safe and easy use even with stress studies, RNV can provide a very valuable aid with aneurysm patients in early diagnosis, evaluation of the operability and as well as in the prognosis. It must be noted, however, that the differentiation of multivascular diseases and sometimes ventricular aneurysms can be difficult and the inclusion of an angiocardiograph as a radiological invasive examination procedure seems fitting. (orig./MG) [de

Current management of inguinal false aneurysms

DEFF Research Database (Denmark)

Houlind, Kim; Jepsen, Jørn M; Saicu, Cristian

2017-01-01

False aneurysms are formed as a result of bleeding causing a hematoma to compress the surrounding tissue. The majority of false aneurysms presenting to the vascular surgeon are caused by iatrogenic injury to an artery. Although anastomotic failure occurs, a much higher number is caused by bleeding...... vessels. endovascular treatment with coils or covered stent grafts have proven useful in infected ilio-femoral false aneurysms. Open surgical repair may be the best treatment in the setting of imminent rupture, massive haematoma and skin necrosis. We present three patient cases treated with open surgery...

Integrative analyses of leprosy susceptibility genes indicate a common autoimmune profile.

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Zhang, Deng-Feng; Wang, Dong; Li, Yu-Ye; Yao, Yong-Gang

2016-04-01

Leprosy is an ancient chronic infection in the skin and peripheral nerves caused by Mycobacterium leprae. The development of leprosy depends on genetic background and the immune status of the host. However, there is no systematic view focusing on the biological pathways, interaction networks and overall expression pattern of leprosy-related immune and genetic factors. To identify the hub genes in the center of leprosy genetic network and to provide an insight into immune and genetic factors contributing to leprosy. We retrieved all reported leprosy-related genes and performed integrative analyses covering gene expression profiling, pathway analysis, protein-protein interaction network, and evolutionary analyses. A list of 123 differentially expressed leprosy related genes, which were enriched in activation and regulation of immune response, was obtained in our analyses. Cross-disorder analysis showed that the list of leprosy susceptibility genes was largely shared by typical autoimmune diseases such as lupus erythematosus and arthritis, suggesting that similar pathways might be affected in leprosy and autoimmune diseases. Protein-protein interaction (PPI) and positive selection analyses revealed a co-evolution network of leprosy risk genes. Our analyses showed that leprosy associated genes constituted a co-evolution network and might undergo positive selection driven by M. leprae. We suggested that leprosy may be a kind of autoimmune disease and the development of leprosy is a matter of defect or over-activation of body immunity. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Radiological analysis of subarachnoid hemorrhage from ruptured intracranial aneurysms

International Nuclear Information System (INIS)

Lee, Jong Doo; Suh, Jung Ho; Kim, Dong Ik

1988-01-01

The CT findings of 98 patients with subarachnoid hemorrhage due to aneurysmal rupture were analyzed and compared with cerebral angiography for the purpose of preangiographic prediction of aneurysmal location as well as evaluation of the CT features corresponding to the vasospasm or ischemic neurologic dysfunctions. The results were as follows: 1.Aneurysms could be identified on initial cerebral angiography in 82 out of 98 patients with subarachnoid hemorrhage and anterior communicating artery aneurysms were most common (42 cases), followed by MCA, posterior communicating artery, ICA, basilar artery in order of frequency. 2.The CT findings of those patients were hemorrhage in subarachnoid space (69%), localized hematoma (47%), ventricular dilatation (31%), enhancing nodule (23%), cisternal enhancement (20%), cerebral infarction (15%), ventricular hemorrhage (14%), and epidural hemorrhage (3%). 3.Localized hematoma was more prevalent in anterior communicating artery aneurysm rupture (54%), and less frequently in MCA, posterior communicating artery and ICA aneurysms. 4.Most of aneurysmal sac could be identified as enhancing nodule on CT when the real size were over 1 cm. 5.The size of ruptured aneurysm could be predicted in many patients with ACA and MCA aneurysm according to the CT features such as hemorrhagic patterns, location of hematomas or enhancing nodules. 6.Localized hematoma or blood clots and cerebral infarction are considered to be the CT features corresponding to the angiographic vasospasm

Aneurysms with persistent filling after failed treatment with the Pipeline embolization device.

Science.gov (United States)

Daou, Badih; Atallah, Elias; Chalouhi, Nohra; Starke, Robert M; Oliver, Jeffrey; Montano, Maria; Jabbour, Pascal; Rosenwasser, Robert H; Tjoumakaris, Stavropoula I

2018-05-04

OBJECTIVE The Pipeline embolization device (PED) has become a valuable tool in the treatment of cerebral aneurysms. Although failures with PED treatment have been reported, the characteristics and course of these aneurysms remain a topic of uncertainty. METHODS Electronic medical records and imaging studies were reviewed for all patients treated with the PED between July 2010 and March 2015 to identify characteristics of patients and aneurysms with residual filling after PED treatment. RESULTS Of 316 cases treated at a single institution, 281 patients had a long-term follow-up. A total of 52 (16.4%) aneurysms with residual filling were identified and constituted the study population. The mean patient age in this population was 58.8 years. The mean aneurysm size was 10.1 mm ± 7.15 mm. Twelve aneurysms were fusiform (23%). Of the aneurysms with residual filling, there were 20 carotid ophthalmic (CO) aneurysms (20% of all CO aneurysms treated), 10 other paraclinoid aneurysms (16.4% of all paraclinoid aneurysms), 7 posterior communicating artery (PCoA) aneurysms (21.9% of all PCoA aneurysms), 7 cavernous internal carotid artery (ICA) aneurysms (14.9% of all cavernous ICA aneurysms), 4 vertebrobasilar (VB) junction aneurysms (14.8% of all VB junction aneurysms), and 3 middle cerebral artery (MCA) aneurysms (25% of all MCA aneurysms). Eleven patients underwent placement of more than one PED (21.2%), with a mean number of devices of 1.28 per case. Eight of 12 aneurysms were previously treated with a stent (15.4%). Nineteen patients underwent re-treatment (36.5%); the 33 patients who did not undergo re-treatment (63.5%) were monitored by angiography or noninvasive imaging. In multivariate analysis, age older than 65 years (OR 2.65, 95% CI 1.33-5.28; p = 0.05), prior stent placement across the target aneurysm (OR 2.94, 95% CI 1.15-7.51; p = 0.02), aneurysm location in the distal anterior circulation (MCA, PCoA, and anterior choroidal artery: OR 2.72, 95% CI 1.19-6.18; p

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

NARCIS (Netherlands)

van 't Hof, Femke N G; Ruigrok, Ynte M; Lee, Cue Hyunkyu; Ripke, Stephan; Anderson, Graig; de Andrade, Mariza; Baas, Annette F; Blankensteijn, Jan D; Böttinger, Erwin P; Bown, Matthew J; Broderick, Joseph; Bijlenga, Philippe; Carrell, David S; Crawford, Dana C; Crosslin, David R; Ebeling, Christian; Eriksson, Johan G; Fornage, Myriam; Foroud, Tatiana; von Und Zu Fraunberg, Mikael; Friedrich, Christoph M; Gaál, Emília I; Gottesman, Omri; Guo, Dong-Chuan; Harrison, Seamus C; Hernesniemi, Juha; Hofman, Albert; Inoue, Ituro; Jääskeläinen, Juha E; Jones, Gregory T; Kiemeney, Lambertus A L M; Kivisaari, Riku; Ko, Nerissa; Koskinen, Seppo; Kubo, Michiaki; Kullo, Iftikhar J; Kuivaniemi, Helena; Kurki, Mitja I; Laakso, Aki; Lai, Dongbing; Leal, Suzanne M; Lehto, Hanna; LeMaire, Scott A; Low, Siew-Kee; Malinowski, Jennifer; McCarty, Catherine A; Milewicz, Dianna M; Mosley, Thomas H; Nakamura, Yusuke; Nakaoka, Hirofumi; Niemelä, Mika; Pacheco, Jennifer; Peissig, Peggy L; Pera, Joanna; Rasmussen-Torvik, Laura; Ritchie, Marylyn D; Rivadeneira, Fernando; van Rij, Andre M; Santos-Cortez, Regie Lyn P; Saratzis, Athanasios; Slowik, Agnieszka; Takahashi, Atsushi; Tromp, Gerard; Uitterlinden, André G; Verma, Shefali S; Vermeulen, Sita H; Wang, Gao T; Han, Buhm; Rinkel, Gabriël J E; de Bakker, Paul I W

2016-01-01

BACKGROUND: Intracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co-occur, we hypothesized that there may be shared genetic risk factors for IAs, AAAs, and TAAs. METHODS AND

Shared genetic risk factors of intracranial, abdominal, and thoracic aneurysms

NARCIS (Netherlands)

van 't Hof, Femke N G; Ruigrok, Ynte M; Lee, Cue Hyunkyu; Ripke, Stephan; Anderson, Graig; de Andrade, Mariza; Baas, Annette F; Blankensteijn, Jan D; Böttinger, Erwin P; Bown, Matthew J; Broderick, Joseph; Bijlenga, Philippe; Carrell, David S; Crawford, Dana C; Crosslin, David R; Ebeling, Christian; Eriksson, Johan G; Fornage, Myriam; Foroud, Tatiana; von Und Zu Fraunberg, Mikael; Friedrich, Christoph M; Gaál, Emília I; Gottesman, Omri; Guo, Dong-Chuan; Harrison, Seamus C; Hernesniemi, Juha; Hofman, Albert; Inoue, Ituro; Jääskeläinen, Juha E; Jones, Gregory T; Kiemeney, Lambertus A L M; Kivisaari, Riku; Ko, Nerissa; Koskinen, Seppo; Kubo, Michiaki; Kullo, Iftikhar J; Kuivaniemi, Helena; Kurki, Mitja I; Laakso, Aki; Lai, Dongbing; Leal, Suzanne M; Lehto, Hanna; LeMaire, Scott A; Low, Siew-Kee; Malinowski, Jennifer; McCarty, Catherine A; Milewicz, Dianna M; Mosley, Thomas H; Nakamura, Yusuke; Nakaoka, Hirofumi; Niemelä, Mika; Pacheco, Jennifer; Peissig, Peggy L; Pera, Joanna; Rasmussen-Torvik, Laura; Ritchie, Marylyn D; Rivadeneira, Fernando; van Rij, Andre M; Santos-Cortez, Regie Lyn P; Saratzis, Athanasios; Slowik, Agnieszka; Takahashi, Atsushi; Tromp, Gerard; Uitterlinden, André G; Verma, Shefali S; Vermeulen, Sita H; Wang, Gao T; Han, Buhm; Rinkel, Gabriël J E; de Bakker, Paul I W

2016-01-01

Background--Intracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co-occur, we hypothesized that there may be shared genetic risk factors for IAs, AAAs, and TAAs. Methods and

Influence of hemodynamic factors on rupture of intracranial aneurysms: patient-specific 3D mirror aneurysms model computational fluid dynamics simulation.

Science.gov (United States)

Lu, G; Huang, L; Zhang, X L; Wang, S Z; Hong, Y; Hu, Z; Geng, D Y

2011-08-01

Hemodynamics factors play an important role in the rupture of cerebral aneurysms. The purpose of this study was to evaluate the impact of hemodynamic factors on the rupture of the MANs with 3D reconstruction model CFD simulation. RDSA was performed in 9 pairs of intracranial MANs. Each pair was divided into ruptured and unruptured groups. The hemodynamic factors of the aneurysms and their parent arteries were compared. There was a significant difference in the WSS at peak systole between the regions of the aneurysms and their parent arteries in the ruptured group (ie, 6.49 ± 3.48 Pa versus 8.78 ± 3.57 Pa, P =.015) but not in the unruptured group (ie, 9.80 ± 4.12 Pa versus 10.17 ± 7.48 Pa, P =.678). The proportion of the low WSS area to the whole area of the aneurysms was 12.20 ± 18.08% in the ruptured group and 3.96 ± 6.91% in the unruptured group; the difference between the 2 groups was statistically significant (P =.015). The OSI was 0.0879 ± 0.0764 in the ruptured group, which was significantly higher than that of the unruptured group (ie, 0.0183 ± 0.0191, P =.008). MANs may be a useful disease model to investigate possible causes linked to ruptured aneurysms. The ruptured aneurysms manifested lower WSS compared with their parent arteries, a higher proportion of the low WSS area to the whole area of aneurysm, and higher OSI compared with the unruptured aneurysms.

Association Between Vascular Anatomy and Posterior Communicating Artery Aneurysms.

Science.gov (United States)

Can, Anil; Ho, Allen L; Emmer, Bart J; Dammers, Ruben; Dirven, Clemens M F; Du, Rose

2015-11-01

Hemodynamic stress, conditioned by the geometry and morphology of the vessel trees, plays an important role in the formation of intracranial aneurysms. The aim of this study was to identify image-based location-specific morphologic parameters that are associated with posterior communicating artery (PCoA) aneurysms. Morphologic parameters obtained from computed tomography angiography of 56 patients with PCoA aneurysms and 23 control patients were evaluated with 3D Slicer, an open-source image analysis software, to generate 3-dimensional models of the aneurysms and surrounding vasculature. Segment lengths, diameters, and vessel-to-vessel angles were examined. To control for genetic and clinical risk factors, the unaffected contralateral side of patients with unilateral PCoA aneurysms was used as a control group for internal carotid artery (ICA)-related parameters. A separate control group with visible PCoAs and aneurysms elsewhere was used as a control group for PCoA-related parameters. Internal carotid artery-related parameters were not statistically different between the PCoA aneurysm and control groups. Univariate and multivariate subgroup analysis for patients with visualized PCoAs demonstrated that a larger PCoA diameter was significantly associated with the presence of a PCoA aneurysm (odds ratio = 12.1, 95% confidence interval = 1.3-17.1, P = 0.04) after adjusting for other morphologic parameters. Larger PCoA diameters are associated with the presence of PCoA aneurysms. These parameters may provide objective metrics to assess aneurysm formation and growth risk stratification in high-risk patients. Copyright © 2015 Elsevier Inc. All rights reserved.

Hemodynamics before and after bleb formation in cerebral aneurysms

Science.gov (United States)

Cebral, Juan R.; Radaelli, Alessandro; Frangi, Alejandro; Putman, Christopher M.

2007-03-01

We investigate whether blebs in cerebral aneurysms form in regions of low or high wall shear stress (WSS), and how the intraaneurysmal hemodynamic pattern changes after bleb formation. Seven intracranial aneurysms harboring well defined blebs were selected from our database and subject-specific computational models were constructed from 3D rotational angiography. For each patient, a second anatomical model representing the aneurysm before bleb formation was constructed by smoothing out the bleb. Computational fluid dynamics simulations were performed under pulsatile flow conditions for both models of each aneurysm. In six of the seven aneurysms, the blebs formed in a region of elevated WSS associated to the inflow jet impaction zone. In one, the bleb formed in a region of low WSS associated to the outflow zone. In this case, the inflow jet maintained a fairly concentrated structure all the way to the outflow zone, while in the other six aneurysms it dispersed after impacting the aneurysm wall. In all aneurysms, once the blebs formed, new flow recirculation regions were formed inside the blebs and the blebs progressed to a state of low WSS. Assuming that blebs form due to a focally damaged arterial wall, these results seem to indicate that the localized injury of the vessel wall may be caused by elevated WSS associated with the inflow jet. However, the final shape of the aneurysm is probably also influenced by the peri-aneurysmal environment that can provide extra structural support via contact with structures such as bone or dura matter.

A coil placement technique to treat intracranial aneurysm with incorporated artery.

Science.gov (United States)

Luo, Chao-Bao; Chang, Feng-Chi; Lin, Chung-Jung; Guo, Wan-Yuo

2018-03-01

Endovascular coil embolization is an accepted treatment option for intracranial aneurysms. However, the coiling of aneurysms with an incorporated artery (IA) poses a high risk of IA occlusion. Here we report our experience of endovascular coil placement using a technique that avoids IA occlusion in aneurysms with IAs. Over a 6-year period, 185 patients harboring 206 intracranial aneurysms underwent endosaccular coiling. Forty-two of these patients with 45 aneurysms were treated by coil placement to avoid IAs occlusion. We assessed the anatomy of the aneurysms and IAs, technical feasibility of the procedure, and degree of aneurysm occlusion. Clinical and angiographic outcomes were assessed as well. Aneurysms were located in the supra-clinoid intracranial internal carotid artery (n = 24), anterior cerebral artery (n = 6), middle cerebral artery (n = 7), and vertebrobasilar artery (n = 8). The IA was at the aneurysm neck in 34 patients, body in 10, and dome in 1. Immediate post-coiling angiogram showed preservation of blood flow through the IA in all aneurysms. Coil compaction with aneurysmal regrowth was found in 7 of 36 patients having follow-up conventional angiography. One patient had an IA territory infarction after embolization. All 42 patients were followed up (mean: 21 months) and showed no re-bleeding. This technique is effective and safe in managing intracranial aneurysms with IAs. Although aneurysmal recurrence may occur in some aneurysms because of insufficient coiling, this technique is simpler to perform and requires less skill than other techniques. It can be an alternative option for treating some selected intracranial aneurysms with IAs. Copyright © 2017. Published by Elsevier Taiwan LLC.

Intravascular volume after aneurysmal subarachnoid hemorrhage

NARCIS (Netherlands)

Hoff, R.G.

2009-01-01

Intravascular volume after aneurysmal subarachnoid hemorrhage A subarachnoid hemorrhage (SAH) from a ruptured cerebral aneurysm is a devastating disorder with an often poor prognosis. The occurrence of delayed cerebral ischemia (DCI) is one of the most important factors determining outcome in

Fourier analysis of intracranial aneurysms: towards an objective and quantitative evaluation of the shape of aneurysms

International Nuclear Information System (INIS)

Rohde, Stefan; Lahmann, Katharina; Nafe, Reinhold; Yan, Bernard; Berkefeld, Joachim; Beck, Juergen; Raabe, Andreas

2005-01-01

Shape irregularities of intracranial aneurysms may indicate an increased risk of rupture. To quantify morphological differences, Fourier analysis of the shape of intracranial aneurysms was introduced. We compared the morphology of 45 unruptured (UIA) and 46 ruptured intracranial aneurysms (RIA) in 70 consecutive patients on the basis of 3D-rotational angiography. Fourier analysis, coefficient of roundness and qualitative shape assessment were determined for each aneurysm. Morphometric analysis revealed significantly smaller coefficient of roundness (P<0.02) and higher values for Fourier amplitudes numbers 2, 3 and 7 (P<0.01) in the RIA group, indicating more complex and irregular morphology in RIA. Qualitative assessment from 3D-reconstructions showed surface irregularities in 78% of RIA and 42% of UIA (P<0.05). Our data have shown significant differences in shape between RIA and UIA, and further developments of Fourier analysis may provide an objective factor for the assessment of the risk of rupture. (orig.)

Application of Revasculization Technique in Aneurysm Surgery : Kyorin University Experience

OpenAIRE

栗田, 浩樹; 山口, 竜一; 池田, 俊貴; 原田, 洋一; 塩川, 芳昭; Hiroki, KURITA; Ryuichi, YAMAGUCHI; Toshiki, IKEDA; Youichi, HARADA; Yoshiaki, SHIOKAWA; 杏林大学医学部脳神経外科・脳卒中センター; 杏林大学医学部脳神経外科・脳卒中センター; 杏林大学医学部脳神経外科・脳卒中センター; 杏林大学医学部脳神経外科・脳卒中センター; 杏林大学医学部脳神経外科・脳卒中センター

2008-01-01

Between February 2004 and September 2005, revasculization technique was used in 10 patients with intracranial aneurysm to obliterate the aneurysm and to prevent ischemic complications. Five high-flow external carotid-internal carotid (EC-IC) bypasses with radial artery graft (EC-RA-M2) followed by proximal IC occlusion/trapping were used to obliterate unruptured IC-cavernous large/giant aneurysms and ruptured IC anterior wall aneurysms. One patient with ruptured VA-union dissecting aneurysm w...

WEB-DL endovascular treatment of wide-neck bifurcation aneurysms

DEFF Research Database (Denmark)

Lubicz, B; Klisch, J; Gauvrit, J-Y

2014-01-01

BACKGROUND AND PURPOSE: Flow disruption with the WEB-DL device has been used safely for the treatment of wide-neck bifurcation aneurysms, but the stability of aneurysm occlusion after this treatment is unknown. This retrospective multicenter European study analyzed short- and midterm data...... in patients treated with WEB-DL. MATERIALS AND METHODS: Twelve European neurointerventional centers participated in the study. Clinical data and pre- and postoperative short- and midterm images were collected. An experienced interventional neuroradiologist independently analyzed the images. Aneurysm occlusion...... was classified into 4 grades: complete occlusion, opacification of the proximal recess of the device, neck remnant, and aneurysm remnant. RESULTS: Forty-five patients (34 women and 11 men) 35-74 years of age (mean, 56.3 ± 9.6 years) with 45 aneurysms treated with the WEB device were included. Aneurysm locations...

Transient coronary aneurysm formation after Nevo™ stent implantation versus persistent coronary aneurysm after Cypher Select™ stent implantation

DEFF Research Database (Denmark)

Christiansen, Evald Høj; Lassen, Jens Flensted; Jensen, Lisette Okkels

2011-01-01

We implanted a Cypher Select™ coronary stent and two months later a Nevo™ sirolimus-eluting coronary stent in another vessel. At a prescheduled angiographic follow-up, coronary aneurysms were seen in the two stented segments, 6 and 8 months after stent implantation, respectively. Six months later......, the aneurysm had healed in the Nevo, but was still present in the Cypher stented segment. We hypothesize that aneurysm formation was induced by sirolimus and the polymer of the implanted stents, and that subsequent healing was possible in the Nevo stent after degradation of the polymer....

Strain-dependent susceptibility for hypertension in mice resides in the natural killer gene complex

NARCIS (Netherlands)

Taherzadeh, Zhila; VanBavel, Ed; de Vos, Judith; Matlung, Hanke L.; van Montfrans, Gert; Brewster, Lizzy M.; Seghers, Leonard; Quax, Paul H. A.; Bakker, Erik N. T. P.

2010-01-01

Taherzadeh Z, VanBavel E, de Vos J, Matlung HL, van Montfrans G, Brewster LM, Seghers L, Quax PH, Bakker EN. Strain-dependent susceptibility for hypertension in mice resides in the natural killer gene complex. Am J Physiol Heart Circ Physiol 298: H1273-H1282, 2010. First published February 12, 2010;

Small Intracranial Aneurysm Treatment Using Target (®) Ultrasoft (™) Coils.

Science.gov (United States)

Jindal, Gaurav; Miller, Timothy; Iyohe, Moronke; Shivashankar, Ravi; Prasad, Vikram; Gandhi, Dheeraj

2016-06-01

The introduction of small, soft, complex-shaped microcoils has helped facilitate the endovascular treatment of small intracranial aneurysms (IAs) over the last several years. Here, we evaluate the initial safety and efficacy of treating small IAs using only Target(®) Ultrasoft(™) coils. A retrospective review of a prospectively maintained clinical database at a single, high volume, teaching hospital was performed from September 2011 to May 2015. IAs smaller than or equal to 5.0 mm in maximal dimension treated with only Target(®) Ultrasoft(™) coils were included. A total of 50 patients with 50 intracranial aneurysms were included. Subarachnoid hemorrhage from index aneurysm rupture was the indication for treatment in 23 of 50 (46%) cases, and prior subarachnoid hemorrhage (SAH) from another aneurysm was the indication for treatment in eight of 50 (16%) cases. The complete aneurysm occlusion rate was 70% (35/50), the minimal residual aneurysm rate was 14% (7/50), and residual aneurysm rate was 16% (8/50). One intraoperative aneurysm rupture occurred. Three patients died during hospitalization from clinical sequelae of subarachnoid hemorrhage. Follow-up at a mean of 13.6 months demonstrated complete aneurysm occlusion in 75% (30/40) of cases, near complete occlusion in 15% (6/40) of cases, and residual aneurysm in 10% (4/40) of cases, all four of which were retreated. Our initial results using only Target(®) Ultrasoft(™) coils for the endovascular treatment of small intracranial aneurysms demonstrate initial excellent safety and efficacy profiles.

Endovascular therapeutic strategies in ruptured intracranial aneurysms

International Nuclear Information System (INIS)

Machi, Paolo; Lobotesis, Kyriakos; Vendrell, Jean Francoise; Riquelme, Carlos; Eker, Omer; Costalat, Vincent; Bonafe, Alain

2013-01-01

The aim of the present study was to evaluate endovascular techniques used currently which were not available at the time of ISAT inclusion period, such as balloon remodelling and flow-divertion, in order to assess whether these new technologies have improved the endovascular approach outcomes. We present a review of articles, published in major journals, with the aim to evaluate the efficacy and the safety of coiling with balloon remodelling for the treatment of ruptured aneurysms in comparison to coiling performed without such coadjutant techniques. Furthermore, we reviewed publications reporting on the treatment of ruptured aneurysms in the acute phase with the one of the most recent technologies available nowadays: the flow diverting stent. Looking at the recent literature the results regarding ruptured aneurysms treated with balloon assisted coiling (BAC) have shown an improvement in terms of anatomical results and morbi-mortality rates. Case series of ruptured middle cerebral artery (MCA) aneurysms treated by EVT report results similar to those obtained by surgical clipping. Several articles recently report encouraging results in treating ruptured dissecting and blister aneurysms with flow diverters. Questions regarding the best treatment available for ruptured aneurysms are yet to be answered. Hence there is a need for a subsequent trial aiming to answer these unresolved issues

Cranio-orbital approach for complex aneurysmal surgery.

LENUS (Irish Health Repository)

Kelleher, M O

2012-02-03

Certain aneurysms of the anterior circulation continue to offer a technical challenge for safe exposure and clipping. The purpose of this paper was to describe the cranio-orbital approach for surgical clipping of complex aneurysms and to evaluate prospectively the associated complications of this approach. Prospective audit of all patients undergoing cranio-orbital approach for aneurysm surgery from 1997 to 2004 by the senior author. Twenty-five patients, eight male and 17 female, median age of 52 years, range 28-73. All patients had a standard pterional approach supplemented by an orbital osteotomy. In the 7-year period 367 patients underwent treatment for their aneurysms (169 clipped and 198 coiled). Of the 169 patients who were operated on, 29 had a skull base approach, of which 25 were cranio-orbital. The aneurysm location was as follows: 16 middle cerebral artery (MCA), three carotid bifurcation, four anterior communicating artery (ACOMM), one ophthalmic and one basilar. There were no approach-related complications. The cranio-orbital craniotomy can be a useful adjunct in the surgical treatment of giant or complex aneurysms. It offers the following advantages over a standard pterional approach: reduces operative distance; allows easy splitting of the sylvian fissure; and provides a wide arc of exposure with multiple working corridors.

Wild rodents as a model to discover genes and pathways underlying natural variation in infectious disease susceptibility.

Science.gov (United States)

Turner, A K; Paterson, S

2013-11-01

Individuals vary in their susceptibility to infectious disease, and it is now well established that host genetic factors form a major component of this variation. The discovery of genes underlying susceptibility has the potential to lead to improved disease control, through the identification and management of vulnerable individuals and the discovery of novel therapeutic targets. Laboratory rodents have proved invaluable for ascertaining the function of genes involved in immunity to infection. However, these captive animals experience conditions very different to the natural environment, lacking the genetic diversity and environmental pressures characteristic of natural populations, including those of humans. It has therefore often proved difficult to translate basic laboratory research to the real world. In order to further our understanding of the genetic basis of infectious disease resistance, and the evolutionary forces that drive variation in susceptibility, we propose that genetic research traditionally conducted on laboratory animals is expanded to the more ecologically valid arena of natural populations. In this article, we highlight the potential of using wild rodents as a new resource for biomedical research, to link the functional genetic knowledge gained from laboratory rodents with the variation in infectious disease susceptibility observed in humans and other natural populations. © 2013 John Wiley & Sons Ltd.

Polymorphisms in the 3' UTR in the neurocalcin delta gene affect mRNA stability, and confer susceptibility to diabetic nephropathy

DEFF Research Database (Denmark)

Kamiyama, Masumi; Kobayashi, Masaaki; Araki, Shin-ichi

2007-01-01

Using a large-scale genotyping analysis of gene-based single nucleotide polymorphisms (SNPs) in Japanese type 2 diabetic patients, we have identified a gene encoding neurocalcin delta (NCALD) as a candidate for a susceptibility gene to diabetic nephropathy; the landmark SNP was found in the 3' UT...

HAS-1 genetic polymorphism in sporadic abdominal aortic aneurysm

Directory of Open Access Journals (Sweden)

Alberto Balbarini

2009-04-01

Full Text Available The hyaluronan synthase 1 (HAS-1 gene encodes a plasma membrane protein that synthesizes hyaluronan (HA, an extracellular matrix molecule. Accumulating evidence emphasizes the relevance of HA metabolism in an increasing number of processes of clinical interest, including abdominal aortic aneurysm (AAA. The existence of aberrant splicing variants of the HAS-1 gene could partly explain the altered extracellular matrix architecture and influence various biological functions, resulting in progressive arterial wall failure in the development of AAA. In the present study, we assessed the hypothesis that HAS-1 genetic 833A/G polymorphism could be associated with the risk of AAA by performing a case-control association study, involving AAA patients and healthy matched donors.

The interaction of BDNF and NTRK2 gene increases the susceptibility of paranoid schizophrenia.

Directory of Open Access Journals (Sweden)

Zheng Lin

Full Text Available The association between BDNF gene functional Val66Met polymorphism rs6265 and the schizophrenia is far from being consistent. In addition to the heterogeneous in schizophrenia per se leading to the inconsistent results, the interaction among multi-genes is probably playing the main role in the pathogenesis of schizophrenia, but not a single gene. Neurotrophic tyrosine kinase receptor 2 (NTRK2 is the high-affinity receptor of BDNF, and was reported to be associated with mood disorders, though no literature reported the association with schizophrenia. Thus, in the present study, total 402 patients with paranoid schizophrenia (the most common subtype of schizophrenia and matched 406 healthy controls were recruited to investigate the role of rs6265 in BDNF, three polymorphisms in NTRK2 gene (rs1387923, rs2769605 and rs1565445 and their interaction in the susceptibility to paranoid schizophrenia in a Chinese Han population. We did not observe significant differences in allele and genotype frequencies between patients and healthy controls for all four polymorphisms separately. The haplotype analysis also showed no association between haplotype of NTRK2 genes (rs1387923, rs2769605, and rs1565445 and paranoid schizophrenia. However, we found the association between the interaction of BDNF and NTRK2 with paranoid schizophrenia by using the MDR method followed by conventional statistical analysis. The best gene-gene interaction model was a three-locus model (BDNF rs6265, NTRK2 rs1387923 and NTRK2 rs2769605, in which one low-risk and three high-risk four-locus genotype combinations were identified. Our findings implied that single polymorphism of rs6265 rs1387923, rs2769605, and rs1565445 in BDNF and NTRK2 were not associated with the development of paranoid schizophrenia in a Han population, however, the interaction of BDNF and NTRK2 genes polymorphisms (BDNF-rs6265, NTRK2-rs1387923 and NTRK2-rs2769605 may be involved in the susceptibility to paranoid

The interaction of BDNF and NTRK2 gene increases the susceptibility of paranoid schizophrenia.

Science.gov (United States)

Lin, Zheng; Su, Yousong; Zhang, Chengfang; Xing, Mengjuan; Ding, Wenhua; Liao, Liwei; Guan, Yangtai; Li, Zezhi; Cui, Donghong

2013-01-01

The association between BDNF gene functional Val66Met polymorphism rs6265 and the schizophrenia is far from being consistent. In addition to the heterogeneous in schizophrenia per se leading to the inconsistent results, the interaction among multi-genes is probably playing the main role in the pathogenesis of schizophrenia, but not a single gene. Neurotrophic tyrosine kinase receptor 2 (NTRK2) is the high-affinity receptor of BDNF, and was reported to be associated with mood disorders, though no literature reported the association with schizophrenia. Thus, in the present study, total 402 patients with paranoid schizophrenia (the most common subtype of schizophrenia) and matched 406 healthy controls were recruited to investigate the role of rs6265 in BDNF, three polymorphisms in NTRK2 gene (rs1387923, rs2769605 and rs1565445) and their interaction in the susceptibility to paranoid schizophrenia in a Chinese Han population. We did not observe significant differences in allele and genotype frequencies between patients and healthy controls for all four polymorphisms separately. The haplotype analysis also showed no association between haplotype of NTRK2 genes (rs1387923, rs2769605, and rs1565445) and paranoid schizophrenia. However, we found the association between the interaction of BDNF and NTRK2 with paranoid schizophrenia by using the MDR method followed by conventional statistical analysis. The best gene-gene interaction model was a three-locus model (BDNF rs6265, NTRK2 rs1387923 and NTRK2 rs2769605), in which one low-risk and three high-risk four-locus genotype combinations were identified. Our findings implied that single polymorphism of rs6265 rs1387923, rs2769605, and rs1565445 in BDNF and NTRK2 were not associated with the development of paranoid schizophrenia in a Han population, however, the interaction of BDNF and NTRK2 genes polymorphisms (BDNF-rs6265, NTRK2-rs1387923 and NTRK2-rs2769605) may be involved in the susceptibility to paranoid schizophrenia.

Vortex dynamics in ruptured and unruptured intracranial aneurysms

Science.gov (United States)

Trylesinski, Gabriel

Intracranial aneurysms (IAs) are a potentially devastating pathological dilation of brain arteries that affect 1.5-5 % of the population. Causing around 500 000 deaths per year worldwide, their detection and treatment to prevent rupture is critical. Multiple recent studies have tried to find a hemodynamics predictor of aneurysm rupture, but concluded with distinct opposite trends using Wall Shear Stress (WSS) based parameters in different clinical datasets. Nevertheless, several research groups tend to converge for now on the fact that the flow patterns and flow dynamics of the ruptured aneurysms are complex and unstable. Following this idea, we investigated the vortex properties of both unruptured and ruptured cerebral aneurysms. A brief comparison of two Eulerian vortex visualization methods (Q-criterion and lambda 2 method) showed that these approaches gave similar results in our complex aneurysm geometries. We were then able to apply either one of them to a large dataset of 74 patient specific cases of intracranial aneurysms. Those real cases were obtained by 3D angiography, numerical reconstruction of the geometry, and then pulsatile CFD simulation before post-processing with the mentioned vortex visualization tools. First we tested the two Eulerian methods on a few cases to verify their implementation we made as well as compare them with each other. After that, the Q-criterion was selected as method of choice for its more obvious physical meaning (it shows the balance between two characteristics of the flow, its swirling and deformation). Using iso-surfaces of Q, we started by categorizing the patient-specific aneurysms based on the gross topology of the aneurysmal vortices. This approach being unfruitful, we found a new vortex-based characteristic property of ruptured aneurysms to stratify the rupture risk of IAs that we called the Wall-Kissing Vortices, or WKV. We observed that most ruptured aneurysms had a large amount of WKV, which appears to agree with

Coiling of ruptured pericallosal artery aneurysms.

NARCIS (Netherlands)

Menovsky, T.; Rooij, W.J.J. van; Sluzewski, M.; Wijnalda, D.

2002-01-01

OBJECTIVE: To assess the technical feasibility of treating ruptured pericallosal artery aneurysms with detachable coils and to evaluate the anatomic and clinical results. METHODS: Over a period of 27 months, 12 patients with a ruptured pericallosal artery aneurysm were treated with detachable

Rupture of popliteal arterial aneurysm due to salmonella infection

International Nuclear Information System (INIS)

Kim, Dong Hun; Oh, Hyung Woo; Kim, Dong Hyun; Byun, Joo Nam

2006-01-01

We report here on a case of popliteal aneurysm and rupture that occurred over a 10-day period and this was all secondary to salmonella infection. Computed tomography (CT) angiography of the extremity that was performed before and after aneurysmal rupture showed the aneurysm's rapid evolution to rupture over a short period of time. We also review the pathogenesis, clinical presentation, diagnostic approach and management of salmonella aneurysms

Genetic and Functional Evidence Supports LPAR1 as a Susceptibility Gene for Hypertension.

Science.gov (United States)

Xu, Ke; Ma, Lu; Li, Yang; Wang, Fang; Zheng, Gu-Yan; Sun, Zhijun; Jiang, Feng; Chen, Yundai; Liu, Huirong; Dang, Aimin; Chen, Xi; Chun, Jerold; Tian, Xiao-Li

2015-09-01

Essential hypertension is a complex disease affected by genetic and environmental factors and serves as a major risk factor for cardiovascular diseases. Serum lysophosphatidic acid correlates with an elevated blood pressure in rats, and lysophosphatidic acid interacts with 6 subtypes of receptors. In this study, we assessed the genetic association of lysophosphatidic acid receptors with essential hypertension by genotyping 28 single-nucleotide polymorphisms from genes encoding for lysophosphatidic acid receptors, LPAR1, LPAR2, LPAR3, LPAR4, LPAR5, and LPAR6 and their flanking sequences, in 3 Han Chinese cohorts consisting of 2630 patients and 3171 controls in total. We identified a single-nucleotide polymorphism, rs531003 in the 3'-flanking genomic region of LPAR1, associated with hypertension (the Bonferroni corrected P=1.09×10(-5), odds ratio [95% confidence interval]=1.23 [1.13-1.33]). The risk allele C of rs531003 is associated with the increased expression of LPAR1 and the susceptibility of hypertension, particularly in those with a shortage of sleep (P=4.73×10(-5), odds ratio [95% confidence interval]=1.75 [1.34-2.28]). We further demonstrated that blood pressure elevation caused by sleep deprivation and phenylephrine-induced vasoconstriction was both diminished in LPAR1-deficient mice. Together, we show that LPAR1 is a novel susceptibility gene for human essential hypertension and that stress, such as shortage of sleep, increases the susceptibility of patients with risk allele to essential hypertension. © 2015 American Heart Association, Inc.

Antimicrobial Susceptibility of Bordetella bronchiseptica Isolates from Swine and Companion Animals and Detection of Resistance Genes.

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Sandra Prüller

Full Text Available Bordetella bronchiseptica causes infections of the respiratory tract in swine and other mammals and is a precursor for secondary infections with Pasteurella multocida. Treatment of B. bronchiseptica infections is conducted primarily with antimicrobial agents. Therefore it is essential to get an overview of the susceptibility status of these bacteria. The aim of this study was to comparatively analyse broth microdilution susceptibility testing according to CLSI recommendations with an incubation time of 16 to 20 hours and a longer incubation time of 24 hours, as recently proposed to obtain more homogenous MICs. Susceptibility testing against a panel of 22 antimicrobial agents and two fixed combinations was performed with 107 porcine isolates from different farms and regions in Germany and 43 isolates obtained from companion animals in Germany and other European countries. Isolates with increased MICs were investigated by PCR assays for the presence of resistance genes. For ampicillin, all 107 porcine isolates were classified as resistant, whereas only a single isolate was resistant to florfenicol. All isolates obtained from companion animals showed elevated MICs for β-lactam antibiotics and demonstrated an overall low susceptibility to cephalosporines. Extension of the incubation time resulted in 1-2 dilution steps higher MIC50 values of porcine isolates for seven antimicrobial agents tested, while isolates from companion animals exhibited twofold higher MIC50/90 values only for tetracycline and cefotaxime. For three antimicrobial agents, lower MIC50 and MIC90 values were detected for both, porcine and companion animal isolates. Among the 150 isolates tested, the resistance genes blaBOR-1 (n = 147, blaOXA-2, (n = 4, strA and strB (n = 17, sul1 (n = 10, sul2 (n = 73, dfrA7 (n = 3 and tet(A (n = 8 were detected and a plasmid localisation was identified for several of the resistance genes.

Endothelial cell proliferation in swine experimental aneurysm after coil embolization.

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Yumiko Mitome-Mishima

Full Text Available After coil embolization, recanalization in cerebral aneurysms adversely influences long-term prognosis. Proliferation of endothelial cells on the coil surface may reduce the incidence of recanalization and further improve outcomes after coil embolization. We aimed to map the expression of proliferating tissue over the aneurysmal orifice and define the temporal profile of tissue growth in a swine experimental aneurysm model. We compared the outcomes after spontaneous thrombosis with those of coil embolization using histological and morphological techniques. In aneurysms that we not coiled, spontaneous thrombosis was observed, and weak, easily detachable proliferating tissue was evident in the aneurysmal neck. In contrast, in the coil embolization group, histological analysis showed endothelial-like cells lining the aneurysmal opening. Moreover, immunohistochemical and morphological analysis suggested that these cells were immature endothelial cells. Our results indicated the existence of endothelial cell proliferation 1 week after coil embolization and showed immature endothelial cells in septal tissue between the systemic circulation and the aneurysm. These findings suggest that endothelial cells are lead to and proliferate in the former aneurysmal orifice. This is the first examination to evaluate the temporal change of proliferating tissue in a swine experimental aneurysm model.

Follow-up observation of intracranial aneurysms with Guglielmi detachable coil embolization

International Nuclear Information System (INIS)

Li Minghua; Cheng Yingsheng; Gu Binxian; Chen Junyan; Wang Wu; Xu Tao; Xu Shiding; Liu Jianmin; Xu Yi

2002-01-01

Objective: To evaluate the middle-long term efficacy of intracranial aneurysms with Guglielmi detachable Coil (GDC) embolization. Methods: 131 cases with 134 aneurysms were embolized with GDC. Of them, 39 aneurysms were in the anterior communication artery, 45 in the posterior communication artery, 19 in the siphon segment of internal carotid artery, 14 in the mediate cerebral artery, 3 in the anterior cerebral artery, 9 in the posterior circle and 5 in other. A wide-neck (neck > 4 mm, or aneurysm body/neck 2 = 8.643, P < 0.01. Follow-up DSA showed no change in 118 aneurysms which were a total or nearly total occlusion on post-embolization DSA. In 16 aneurysms with subtotal or partial occlusion, re-open of aneurysm showed in 9 cases, reduced in 3, no change in 4 on follow-up DSA. Conclusion: Although the recent-medium-term efficacy of intracranial aneurysms with GDC embolization is in the affirmative, a period follow-up DSA is essential, especially in aneurysms with subtotal or partial occlusion. Again, re-embolization with GDC is recommended in a re-open aneurysm

Correlation between the clinical presentation and DSA of intracranial aneurysms

International Nuclear Information System (INIS)

Fang Chun; Hua Jia; Chen Kemin; Yin Yan; Ge Xin; Ying Yiping

2001-01-01

Objective: To evaluate the correlation between the clinical presentation and cerebral angiographic features of intracranial aneurysms. Methods: The authors retrospectively analyzed the relationship between the size, location and shape of 48 patient's cerebral aneurysms and their clinical presentations. Results: Clinical symptoms of cerebral aneurysms were related with their size, location and shape. Aneurysms in different location or at same location may cause similar symptoms or different symptoms. Rotation DSA is a useful examination supplemented to conventional DSA. Conclusions: The relationship between the location and the presentation of intracranial aneurysms is not specific. Rotation DSA plays important role in showing the characteristics of the cerebral aneurysms

Pathogenic sequence for dissecting aneurysm formation in a hypomorphic polycystic kidney disease 1 mouse model

NARCIS (Netherlands)

Hassane, S.; Claij, N.; Lantinga-van Leeuwen, I.S.; Munsteren, J.C. van; Lent, N. van; Hanemaaijer, R.; Breuning, M.H.; Peters, D.J.M.; Ruiter, M.C. de

2007-01-01

OBJECTIVE - Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a multi-system disorder characterized by progressive cyst formation in the kidneys. Serious complications of ADPKD are intracranial and aortic aneurysms. The condition is mainly caused by mutations in the PKD1 or PKD2 gene. We have

ADAMTS-1 in abdominal aortic aneurysm.

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Emina Vorkapic

Full Text Available Extracellular matrix degradation is a hallmark of abdominal aortic aneurysm (AAA. Among proteases that are capable of degrading extracellular matrix are a disintegrin and metalloproteases with thrombospondin motifs (ADAMTS. Pathogenesis of these proteases in AAA has not been investigated until date.Human aneurysmal and control aortas were collected and analyzed with RT-PCR measuring the ADAMTS-1, 4,5,6,8,9,10,13,17 and ADAMTSL-1. Expression of a majority of the investigated ADAMTS members on mRNA level was decreased in aneurysm compared to control aorta. ADAMTS-1 was one of the members that was reduced most. Protein analysis using immunohistochemistry and western blot for localization and expression of ADAMTS-1 revealed that ADAMTS-1 was present predominantly in areas of SMCs and macrophages in aneurysmal aorta and higher expressed in AAA compared to control aortas. The role of ADAMTS-1 in AAA disease was further examined using ADAMTS-1 transgenic/apoE-/- mice with the experimental angiotensin II induced aneurysmal model. Transgenic mice overexpressing ADAMTS-1 showed to be similar to ADAMTS-1 wild type mice pertaining collagen, elastin content and aortic diameter.Several of the ADAMTS members, and especially ADAMTS-1, are down regulated at mRNA level in AAA, due to unknown mechanisms, at the same time ADAMTS-1 protein is induced. The cleavage of its substrates, don't seem to be crucial for the pathogenesis of AAA but rather more important in the development of thoracic aortic aneurysm and atherosclerosis as shown in previous studies.

Aneurysm Repair

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... the aneurysm. The stent graft acts as a barrier between the blood and the diseased wall of ... Search THI Resources Office of Research Administration Library & Learning Resource Center Scientific Publications & Grants Visual Communications & Public ...

Bipolar disorder: idioms of susceptibility and disease and the role of 'genes' in illness explanations.

Science.gov (United States)

Baart, Ingrid; Widdershoven, Guy

2013-11-01

This qualitative study explores (1) how members of the Dutch Association for People with Bipolar Disorder explain the affliction of bipolar disorder; (2) the relationship between genetic, environmental and personal factors in these explanations and (3) the relationship between illness explanations, self-management and identity. A total of 40 participants took part in seven different focus group discussions. The results demonstrate that there are two different explanatory idioms, each one centred around an opposing concept, that is, susceptibility and disease. Individuals who construct explanations around the concept of 'disease' attach more importance to 'genes and chemicals' than to environmental components in the onset of the disorder, whereas individuals adhering to the central concept of 'susceptibility' tend to do this much less. Compared with individuals using the 'susceptibility' idiom, those who use a 'disease' idiom tend to observe fewer possibilities for self-management and are less inclined to construct normalcy through a quest for personal growth. Stories of suffering seem more integral to the 'disease' idiom than to the 'susceptibility' idiom. The 'disease' idiom seems less integrated in a contemporary surveillance psychiatric discourse than the 'susceptibility' idiom; however, both vocabularies can offer normative constraints.

The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes

International Nuclear Information System (INIS)

Johnson, Julie K; Waddell, Nic; Chenevix-Trench, Georgia

2012-01-01

Identification of novel, highly penetrant, breast cancer susceptibility genes will require the application of additional strategies beyond that of traditional linkage and candidate gene approaches. Approximately one-third of inherited genetic diseases, including breast cancer susceptibility, are caused by frameshift or nonsense mutations that truncate the protein product [1]. Transcripts harbouring premature termination codons are selectively and rapidly degraded by the nonsense-mediated mRNA decay (NMD) pathway. Blocking the NMD pathway in any given cell will stabilise these mutant transcripts, which can then be detected using gene expression microarrays. This technique, known as gene identification by nonsense-mediated mRNA decay inhibition (GINI), has proved successful in identifying sporadic nonsense mutations involved in many different cancer types. However, the approach has not yet been applied to identify germline mutations involved in breast cancer. We therefore attempted to use GINI on lymphoblastoid cell lines (LCLs) from multiple-case, non- BRCA1/2 breast cancer families in order to identify additional high-risk breast cancer susceptibility genes. We applied GINI to a total of 24 LCLs, established from breast-cancer affected and unaffected women from three multiple-case non-BRCA1/2 breast cancer families. We then used Illumina gene expression microarrays to identify transcripts stabilised by the NMD inhibition. The expression profiling identified a total of eight candidate genes from these three families. One gene, PPARGC1A, was a candidate in two separate families. We performed semi-quantitative real-time reverse transcriptase PCR of all candidate genes but only PPARGC1A showed successful validation by being stabilised in individuals with breast cancer but not in many unaffected members of the same family. Sanger sequencing of all coding and splice site regions of PPARGC1A did not reveal any protein truncating mutations. Haplotype analysis using short

True aneurysm of the proximal occipital artery: Case report

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Giulio Illuminati

Full Text Available Introduction: True aneurysms of the proximal occipital artery are rare, may cause neurological symptoms due to compression of the hypoglossal nerve and their resection may be technically demanding. Presentation of case: The case of an aneurysm of the proximal occipital artery causing discomfort and tongue deviation by compression on the hypoglossal nerve is reported. Postoperative course after resection was followed by complete regression of symptoms. Conclusion: Surgical resection, as standard treatment of aneurysms of the occipital artery, with the eventual technical adjunct of intubation by the nose is effective in durably relieving symptoms and preventing aneurysm-related complication. Keywords: Arterial aneurysm, Occipital artery, Case report

Endovascular treatment of posterior cerebral artery aneurysms using detachable coils

Energy Technology Data Exchange (ETDEWEB)

Roh, Hong Gee [Kangwon National University Hospital, Department of Radiology, Chuncheon, Kangwon-do (Korea); Konkuk University Hospital, Department of Radiology, Seoul (Korea); Kim, Sam Soo; Han, Heon [Kangwon National University Hospital, Department of Radiology, Chuncheon, Kangwon-do (Korea); Kang, Hyun-Seung [Konkuk University Hospital, Department of Neurosurgery, Seoul (Korea); Moon, Won-Jin [Konkuk University Hospital, Department of Radiology, Seoul (Korea); Byun, Hong Sik [Sungkyunkwan University School of Medicine, Department of Radiology and Center for Imaging Science, Samsung Medical Center, Seoul (Korea)

2008-03-15

Aneurysms of the posterior cerebral artery (PCA) are rare, and most of the studies reported in the literature in which the endovascular approach was applied were carried out on a limited number of patients with PCA aneurysms. We retrospectively reviewed our cases of PCA aneurysms - at various locations and of differing shapes - that received endovascular treatment and evaluated the treatment outcome. From January 1996 to December 2006, 13 patients (eight females and five males) with 17 PCA aneurysms (nine fusiform and eight saccular) were treated using the endovascular approach. The age of the patients ranged from 20 to 67 years, with a mean age of 44 years. Of the 13 patients, ten presented with intracranial hemorrhage, and one patient, with a large P2 aneurysm, presented with trigeminal neuralgia; the aneurysms were asymptomatic in the remaining two patients. All 13 patients were successfully treated, with only one procedure-related symptomatic complication. Seven patients were treated by occlusion of the aneurysm and parent artery together; five patients, by selective embolization of the aneurysm; one patient, by partial coiling. Although infarctions were found in two patients treated with selective embolization and in three patients treated with parent artery occlusion, only one patient with a ruptured P2 aneurysm treated with parent artery occlusion developed transient amnesia as an ischemic symptom. Posterior cerebral artery aneurysms can be treated safely with either occlusion of the aneurysm together with the PCA or with a selective coil embolization. Infarctions may occur after endovascular treatment, but they are rarely the cause of a disabling symptom. (orig.)

Bilateral Distal Anterior Cerebral Artery Aneurysms Mimicking So-called "Kissing Aneurysms": A Case Report

OpenAIRE

山口, 竜一; 伊藤, 宣行; 前村, 栄治; 塩川, 芳昭; 齋藤, 勇; Ryuichi, YAMAGUCHI; Nobuyuki, ITO; Eiji, MAEMURA; Yoshiaki, SHIOKAWA; Isamu, SAITO; 公立阿伎留病院脳神経外科; 公立阿伎留病院脳神経外科; 公立阿伎留病院脳神経外科; 杏林大学医学部脳神経外科; 杏林大学医学部脳神経外科

2003-01-01

A 71-year-old woman presented disturbance of consciousness due to subarachnoid hemorrhage (SAH). A computed tomography (CT) on admission revealed diffuse thick SAH and intracerebral hematoma in the right frontal lobe. Conventional angiography and three-dimensional CT angiography showed symmetrical aneurysms located on the bilateral pericallosal arteries at bifurcation of the callosomarginal arteries. The operation was performed on the next day after onset of SAH. The aneurysms were clipped vi...

Intrinsic, Transitional, and Extrinsic Morphological Factors Associated With Rupture of Intracranial Aneurysms.

Science.gov (United States)

Ho, Allen L; Lin, Ning; Frerichs, Kai U; Du, Rose

2015-09-01

As diagnosis and treatment of unruptured intracranial aneurysms continues to increase, management principles remain largely based on size. This is despite mounting evidence that aneurysm location and other morphologic variables could play a role in predicting overall risk of rupture. Morphological parameters can be divided into 3 main groups, those that are intrinsic to the aneurysm, those that are extrinsic to the aneurysm, and those that involve both the aneurysm and surrounding vasculature (transitional). We present an evaluation of intrinsic, transitional, and extrinsic factors and their association with ruptured aneurysms. Using preoperative computed tomographic angiography, we generated 3-dimensional models of aneurysms and their surrounding vasculature with Slicer software. Using univariate and multivariate analyses, we examined the association of intrinsic, transitional, and extrinsic aspects of aneurysm morphology with rupture. Between 2005 and 2013, 227 cerebral aneurysms in 4 locations were evaluated/treated at a single institution, and computed tomographic angiographies of 218 patients (97 unruptured and 130 ruptured) were analyzed. Ruptured aneurysms analyzed were associated with clinical factors of absence of multiple aneurysms and history of no prior rupture, and morphologic factors of greater aspect ratio. On multivariate analysis, aneurysm rupture remained associated with history of no prior rupture, greater flow angle, greater daughter-daughter vessel angle, and smaller parent-daughter vessel angle. By studying the morphology of aneurysms and their surrounding vasculature, we identified several parameters associated with ruptured aneurysms that include intrinsic, transitional, and extrinsic factors of cerebral aneurysms and their surrounding vasculature.

Cancer Risks Associated with Inherited Mutations in Ovarian Cancer Susceptibility Genes Beyond BRCA1 and BRCA2

Science.gov (United States)

2016-05-01

25 other candidate genes in the Fanconi anemia-BRCA pathway: ATR, BABAM1, BAP1, BLM, BRCC3, BRE, CHEK1, ERCC1, ERCC4 (FANCQ), FANCA , FANCB, FANCC...AWARD NUMBER: W81XWH-13-1-0484 TITLE: Cancer Risks Associated with Inherited Mutations in Ovarian Cancer Susceptibility Genes Beyond BRCA1 and...DNA repair genes on small core biopsy specimens iv) begun accessioning samples from the phase 2 rucaparib trial (Ariel 2, NCT01891344). 15

Intracranial aneurysms: optimized diagnostic tools call for thorough interdisciplinary treatment strategies.

Science.gov (United States)

Mueller, Oliver M; Schlamann, Marc; Mueller, Daniela; Sandalcioglu, I Erol; Forsting, Michael; Sure, Ulrich

2011-09-01

Intracranial aneurysms (IAs) require deliberately selected treatment strategies as they are incrementally found prior to rupture and deleterious subarachnoid haemorrhage (SAH). Multiple and recurrent aneurysms necessitate both neurointerventionalists and neurosurgeons to optimize aneurysmal occlusion in an interdisciplinary effort. The present study was conducted to condense essential strategies from a single neurovascular centre with regard to the lessons learned. Medical charts of 321 consecutive patients treated for IAs at our centre from September 2008 until December 2010 were retrospectively analysed for clinical presentation of the aneurysms, multiplicity and treatment pathways. In addition, a selective Medline search was performed. A total of 321 patients with 492 aneurysms underwent occlusion of their symptomatic aneurysm: 132 (41.1%) individuals were treated surgically, 189 (58.2%) interventionally; 138 patients presented with a SAH, of these 44.2% were clipped and 55.8% were coiled. Aneurysms of the middle cerebral artery were primarily occluded surgically (88), whereas most of the aneurysms of the internal carotid artery and anterior communicating artery (114) were treated endovascularly. Multiple aneurysms (range 2-5 aneurysms/individual) were diagnosed in 98 patients (30.2%). During the study period 12 patients with recurrent aneurysms were allocated to another treatment modality (previously clip to coil and vice versa). Our data show that successful interdisciplinary occlusion of IAs is based on both neurosurgical and neurointerventional therapy. In particular, multiple and recurrent aneurysms require tailored individual approaches to aneurysmal occlusion. This is achieved by a consequent interdisciplinary pondering of the optimal strategy to occlude IAs in order to prevent SAH.

Experimental Study of Flow Through Carotid Aneurysms

Science.gov (United States)

Masoomi, Faezeh; Mejia-Alvarez, Ricardo

2017-11-01

There is evidence that traditional endovascular techniques like coiling are not effective for treatment of wide-neck cerebral aneurysms. Flow Diverter Stents (FDS) have emerged as promising devices for treating complex aneurysms since they enable treatment of aneurysms that were considered untreatable before. Recent studies suggest a number of associated risks with FDS, including in-stent thrombosis, perianeurysmal edema, delayed hemorrhage, and perforator occlusions. Chong et al. simulated hemodynamic behavior using patient-specific data. From their study, it is possible to infer that the standard deviation of energy loss could be a good predictor for intervention success. The aim of this study is to investigate the flow in models of cerebral aneurysms before and after FDS insertion using PIV. These models will be based on actual clinical studies and will be fabricated with advanced additive manufacturing techniques. These data will then be used to explore flow parameters that could inform the likelihood of post-intervention aneurysm rupture, and help determine FDS designs that better suit any particular patient before its procedure.

Comprehensive analysis of three TYK2 gene variants in the susceptibility to Chagas disease infection and cardiomyopathy

Science.gov (United States)

Carmona, F. David; Dolade, Nuria; Vargas, Sofia; Echeverría, Luis Eduardo; González, Clara Isabel; Martin, Javier

2018-01-01

Tyrosine kinase 2 (TYK2) is a member of the Janus kinases family implicated in the signal transduction of type I interferons and several interleukins. It has been described that genetic mutations within TYK2 lead to multiple deleterious effects in the immune response. In this work, we have analyzed three functional independent variants from the frequency spectrum on the TYK2 gene (common and low-frequency variants) suggested to reduce the function of the gene in mediating cytokine signaling and the susceptibility to infections by Trypanosoma cruzi and/or the development of Chagas cardiomyopathy in the Colombian population. A total of 1,323 individuals from a Colombian endemic region for Chagas disease were enrolled in the study. They were classified as seronegative (n = 445), seropositive asymptomatic (n = 336), and chronic Chagas Cardiomyopathy subjects (n = 542). DNA samples were genotyped using TaqMan probes. Our results showed no statistically significant differences between the allelic frequencies of the three analyzed variants when seropositive and seronegative individuals were compared, therefore these variants were not associated with susceptibility to Chagas disease. Moreover, when Chagas cardiomyopathy patients were compared to asymptomatic patients, no significant associations were found. Previous reports highlighted the association of this gene in immune-related disorders under an autoimmunity context, but not predisposing patients to infectious diseases, which is consistent with our findings. Therefore, according to our results, TYK2 gene variants do not seem to play an important role in Chagas disease susceptibility and/or chronic Chagas cardiomyopathy. PMID:29304122

Hemodynamic alterations after stent implantation in 15 cases of intracranial aneurysm.

Science.gov (United States)

Wang, Chao; Tian, Zhongbin; Liu, Jian; Jing, Linkai; Paliwal, Nikhil; Wang, Shengzhang; Zhang, Ying; Xiang, Jianping; Siddiqui, Adnan H; Meng, Hui; Yang, Xinjian

2016-04-01

Stent-assisted coiling technology has been widely used in the treatment of intracranial aneurysms. In the current study, we investigated the intra-aneurysmal hemodynamic alterations after stent implantation and their association with the aneurysm location. We first retrospectively studied 15 aneurysm cases [8 internal carotid artery-ophthalmic artery (ICA-OphA) aneurysms and 7 posterior communicating artery (PcoA) aneurysms] treated with Enterprise stents and coils. Then, based on the patient-specific geometries before and after stenting, we built virtual stenting computational fluid dynamics (CFD) simulation models. Before and after the stent deployment, the average wall shear stress (WSS) on the aneurysmal sac at systolic peak changed from 7.04 Pa (4.14 Pa, 15.77 Pa) to 6.04 Pa (3.86 Pa, 11.13 Pa), P = 0.001; the spatially averaged flow velocity in the perpendicular plane of the aneurysm dropped from 0.5 m/s (0.28 m/s, 0.7 m/s) to 0.33 m/s (0.25 m/s, 0.49 m/s), P = 0.001, respectively. Post stent implantation, the WSS in ICA-OphA aneurysms and PcoA aneurysms decreased by 14.4 % (P = 0.012) and 16.6 % (P = 0.018), respectively, and the flow velocity also reduced by 10.3 % (P = 0.029) and 10.5 % (P = 0.013), respectively. Changes in the WSS, flow velocity, and pressure were not significantly different between ICA-OphA and PcoA aneurysms (P > 0.05). Stent implantation did not significantly change the peak systolic pressure in either aneurysm type. After the stent implantation, both the intra-aneurysmal flow velocity and WSS decreased independently of aneurysm type (ICA-OphA and PcoA). Little change was observed in peak systolic pressure.

Stent-assisted coil embolization of intracranial aneurysms: a single center experience.

Science.gov (United States)

Luo, Chao-Bao; Teng, Michael Mu-Huo; Chang, Feng-Chi; Lin, Chung-Jung; Guo, Wan-Yuo; Chang, Cheng-Yen

2012-07-01

Endovascular detachable coil embolization has become an important method in the management of intracranial aneurysms. However, coil embolization alone may fail to treat some wide-neck aneurysms. Herein, we report our experience with and outcome of stent-assisted coil embolization (SACE) of intracranial aneurysms. Over a 5-year period, a total of 59 patients diagnosed with 63 intracranial aneurysms underwent SACE. Of the total 63 aneurysms, 6 aneurysms were treated by SACE as a salvageable procedure because of coil instability after detachment. There were 17 men and 42 women enrolled in the study, with ages ranging from 24 to 86 years (mean: 60 years). We retrospectively assessed the clinical data, aneurysm characteristics, and angiographic and clinical outcomes of all patient cases. The mean aneurysm size was 9.4 mm, and the mean neck size was 5.5 mm. Clinical and angiographic follow-up exceeding 6 months were available in 51 and 40 patients, respectively. The mean clinical follow-up time was 28 months (range: 6-49 months). Successful stent deployment was found in 60 aneurysms (95%). Midterm total or subtotal angiographic aneurismal occlusion was obtained in 56 aneurysms (89%), with further thrombosis of the aneurismal sac occurring in 4 (10%). Stable coiling aneurysm was found in 24 (78%), aneurysm recurrence was observed in 5 (13%), and permanent procedural morbidity was observed in two patients (3.4%). During the follow-up period, there were no hemorrhagic events and no stent displacement. Despite a modest procedural complication rate, and some evidence of aneurismal recurrence, SACE was proved to be both effective and safe in managing wide-neck intracranial aneurysms. Our results also demonstrated the midterm durability and stability of aneurysm treated by SACE. Furthermore, SACE can be a salvageable procedure in cases with coil instability after detachment. Copyright © 2012. Published by Elsevier B.V.

De novo giant A2 aneurysm following anterior communicating artery occlusion.

Science.gov (United States)

Ibrahim, Tarik F; Hafez, Ahmad; Andrade-Barazarte, Hugo; Raj, Rahul; Niemela, Mika; Lehto, Hanna; Numminen, Jussi; Jarvelainen, Juha; Hernesniemi, Juha

2015-01-01

De novo intracranial aneurysms are reported to occur with varying incidence after intracranial aneurysm treatment. They are purported to be observed, however, with increased incidence after Hunterian ligation; particularly in cases of carotid artery occlusion for giant or complex aneurysms deemed unclippable. We report a case of right-sided de novo giant A2 aneurysm 6 years after an anterior communicating artery (ACoA) aneurysm clipping. We believe this de novo aneurysm developed in part due to patient-specific risk factors but also a significant change in cerebral hemodynamics. The ACoA became occluded after surgery that likely altered the cerebral hemodynamics and contributed to the de novo aneurysm. We believe this to be the first reported case of a giant de novo aneurysm in this location. Following parent vessel occlusion (mostly of the carotid artery), there are no reports of any de novo aneurysms in the pericallosal arteries let alone a giant one. The patient had a dominant right A1 and the sudden increase in A2 blood flow likely resulted in increased wall shear stress, particularly in the medial wall of the A2 where the aneurysm occurred 2 mm distal to the A1-2 junction. ACoA preservation is a key element of aneurysm surgery in this location. Suspected occlusion of this vessel may warrant closer radiographic follow-up in patients with other risk factors for aneurysm development.

Turnover in intracranial aneurysm phantoms: its relation to neck size

International Nuclear Information System (INIS)

Chung, Tae Sub; Lee, Young Jun; Rhim, Yoon Chul

2003-01-01

To evaluate the physiologic background of aneurysms poorly visualized during 3D-TOF MRA, contrast-enhanced MRA (CEMRA) and DSA due to hemodynamic isolation. Using handmade elastic silicon phantoms to represent terminal basilar tip aneurysms, 3D-TOF MRA, CEMRA and DSA were used to determine blood turnover. Aneurysmal neck size was 2 mm and 10 mm, and the use of a pulsatile pump also helped recreate human physiologic parameters. We compared the results with those of computational fluid dynamics. DSA images of the narrow-necked aneurysm showed that a small volume of contrast medium washed into it during the systolic phase. As the width of its neck increased, the turnover volume of fragments of contrast bolus also increased. At CEMRA, the broad-necked aneurysm was visualized as the main bolus of Gd-DTPA passed through it, and at delayed CEMRA, the narrow-necked aneurysm was visualized faintly after the passage of bolus Gd-DTPA. The results correlated closely with those of 3D-TOF MRA and computational fluid dynamics. The visualization of intracranial aneurysms at 3D-TOF MRA, CEMRA and DSA was greatly dependent upon blood turnover, which varied according to aneurysmal neck size. A narrow-necked aneurysm might be missed at 3D-TOF MRA, CEMRA and DSA due to hemodynamic isolation

Endovascular treatment of the posterior inferior cerebellar artery aneurysms

Energy Technology Data Exchange (ETDEWEB)

Bradac, G.B.; Bergui, M. [Neuroradiology, Univ. di Torino, Turin (Italy)

2004-12-01

Aneurysms may arise at various locations along the course of the posterior inferior cerebellar artery. Brainstem and cranial nerves manipulation make the surgical approach to proximal aneurysms difficult, while the occlusion of the parent vessel is sometimes unavoidable in peripheral aneurysms. Endovascular treatment can be a good alternative, but also with this approach the location of the aneurysm is critical. If occlusion of the parent vessel is planned, anatomical variations and vascular territories of the brainstem should be considered. We report our experience with 18 consecutive aneurysms (12 proximal, 6 peripheral) treated by coils. Complete occlusion was achieved in 14 patients and subtotal in 4. In three patients the parent vessel had to be sacrificed. During treatment two perforations occurred; aneurysms were completely occluded without clinical consequences. Two small asymptomatic cerebellar infarctions were seen on postoperative computed tomography. Clinical outcome was good in 16 patients. (orig.)

Prediction of parent artery of anterior communicating artery aneurysm on CT angiography

International Nuclear Information System (INIS)

Chung, Jin Young; Han, Tae Il; Kim, Dae Hong; Han, Hyun Young; Kim, Hyun Jung; Song, Mun Kab

1999-01-01

To determine whether CT angiography can predict the parent artery of an anterior communicating aneurysm on the basis of characteristics of the aneurysm and precommunication anterior cerebral artery. Eighteen patients with anterior communication aneurysm were studied prospectively using CT angiography and conventional angiography. The parent artery of an aneurysm was predicted by evaluating aneurysm neck location, direction of aneurysm projection, and size of the precommunicating anterior cerebral artery, as seen on CT angiography. A somatom Plus-4 spiral CT scanner was used and shaded-surface display three-dimensional images were constructed. Aneurysm neck was located near the parent artery in 12 cases(66.7%), and aneurysm projection was against the parent artery in 11 cases(61.1%). The parent artery of the anterior cerebral artery was larger in 15 cases(83.3%), including ten cases of hypoplasia or agenesis of the contralateral anterior cerebral artery. In 17 of 18 aneurysms(94.4%) the parent artery seen on DSA was correctly predicted by CT angiography. The parent artery of an anterior communicating aneurysm can be predicted by evaluating aneurysm neck location, direction of aneurysm projection, and precommunicating anterior cerebral artery, as seen on CT angiography

Aneurysm-Specific miR-221 and miR-146a Participates in Human Thoracic and Abdominal Aortic Aneurysms

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Premakumari Venkatesh

2017-04-01

Full Text Available Altered microRNA expression is implicated in cardiovascular diseases. Our objective was to determine microRNA signatures in thoracic aortic aneurysms (TAAs and abdominal aortic aneurysms (AAAs compared with control non-aneurysmal aortic specimens. We evaluated the expression of fifteen selected microRNA in human TAA and AAA operative specimens compared to controls. We observed significant upregulation of miR-221 and downregulation of miR-1 and -133 in TAA specimens. In contrast, upregulation of miR-146a and downregulation of miR-145 and -331-3p were found only for AAA specimens. Upregulation of miR-126 and -486-5p and downregulation of miR-30c-2*, -155, and -204 were observed in specimens of TAAs and AAAs. The data reveal microRNA expression signatures unique to aneurysm location and common to both thoracic and abdominal pathologies. Thus, changes in miR-1, -29a, -133a, and -221 are involved in TAAs and miR-145, -146, and -331-3p impact AAAs. This work validates prior studies on microRNA expression in aneurysmal diseases.

Diagnosis and treatment of traumatic intracranial aneurysm in childhood

International Nuclear Information System (INIS)

Yu Juming; Fan Guoping; Zhong Weixing; Zhang Yongping; Peng Haiteng; Zhu Ming; Cheng Yongde

2008-01-01

Objective: To evaluate the diagnosis, safety and efficacy of interventional therapy and surgery for child traumatic intracranial aneurysms. Methods: Five patients with traumatic intracranial aneurysms including three males and two females, age ranged from 2 to 10 years old; 5 had undertaken CT and MR scanings. All of them showed traumatic subarachnoid hemorrhage in 2, intracerebral hematoma in the right occipital and the left temporal respectively in 2 and another one with somewhat bleeding at the posterior fossa and right trigone of lateral ventricles and subdural bleeding at the tentorium edge. The detailed vascular involvement diagnosis were made by DSA revealing one of left C1 segmental internal carotid artery traumatic aneurysm, one of the branch of right sylvian artery traumatic aneurysm, one of left middle cerebral artery traumatic aneurysm, one of left posterior cerebral artery traumatic aneurysm, one of the branch of right posterior inferior cerebellar artery traumatic aneurysm. Two of them were treated by embolization therapy with CDC and two by surgery. Results: The CDC embolization in 2 cases and the surgical operation for another 2 were all succeeded without death or complications. The last case was followed up closely. Conclusions: Traumatic intracranial aneurysm is rare in childhood but endovascular treatment with CDC and surgery is efficient and safe, yet the long-term efficacy is still relied on follow-up. (authors)

β-Carotene Attenuates Angiotensin II-Induced Aortic Aneurysm by Alleviating Macrophage Recruitment in Apoe(-/- Mice.

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Kaliappan Gopal

Full Text Available Abdominal aortic aneurysm (AAA is a common chronic degenerative disease characterized by progressive aortic dilation and rupture. The mechanisms underlying the role of α-tocopherol and β-carotene on AAA have not been comprehensively assessed. We investigated if α-tocopherol and β-carotene supplementation could attenuate AAA, and studied the underlying mechanisms utilized by the antioxidants to alleviate AAA. Four-months-old Apoe(-/- mice were used in the induction of aneurysm by infusion of angiotensin II (Ang II, and were orally administered with α-tocopherol and β-carotene enriched diet for 60 days. Significant increase of LDL, cholesterol, triglycerides and circulating inflammatory cells was observed in the Ang II-treated animals, and gene expression studies showed that ICAM-1, VCAM-1, MCP-1, M-CSF, MMP-2, MMP-9 and MMP-12 were upregulated in the aorta of aneurysm-induced mice. Extensive plaques, aneurysm and diffusion of inflammatory cells into the tunica intima were also noticed. The size of aorta was significantly (P = 0.0002 increased (2.24±0.20 mm in the aneurysm-induced animals as compared to control mice (1.17±0.06 mm. Interestingly, β-carotene dramatically controlled the diffusion of macrophages into the aortic tunica intima, and circulation. It also dissolved the formation of atheromatous plaque. Further, β-carotene significantly decreased the aortic diameter (1.33±0.12 mm in the aneurysm-induced mice (β-carotene, P = 0.0002. It also downregulated ICAM-1, VCAM-1, MCP-1, M-CSF, MMP-2, MMP-9, MMP-12, PPAR-α and PPAR-γ following treatment. Hence, dietary supplementation of β-carotene may have a protective function against Ang II-induced AAA by ameliorating macrophage recruitment in Apoe(-/- mice.

Spontaneous non aneurysmal subarachnoid hemorrhage

International Nuclear Information System (INIS)

Bian Jieyong; Wang Zhong; Zhou Dai

2000-01-01

Objective: To study the etiology and the treatment of spontaneous non-aneurysmal subarachnoid hemorrhage. Methods: Twenty five cases of cerebral vessel angiography negative patients were analysed retrospectively, the majority of them had been undergone CT, DSA, MRI examination in order to define the etiological factor. Results: Among them, there was 1 case of spinal arteria-vena malformation, 1 case of hemorrhagic blood and 2 cases according to the revealing of MRI could be explained as bled vascular-occult malformation or cavernous angioma. Conclusion: The management and prognosis of patients in whom non-aneurysm is founded on the initial angiogram depends on the pattern of hemorrhage of the initial CT scanning, repeated angiography should be avoided for the case of premise encephalic non-aneurysmal SAH and MRI examination may be indicated to defining of etiological factors

Hypertrophic cardiomyopathy with mid-ventricular obstruction and apical aneurysm

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N.D. Oryshchyn

2016-11-01

Full Text Available A case report of apical left ventricular aneurysm in patient with hypertrophic cardiomyopathy with mid-ventricular obstruction (diagnosis and surgical treatment is presented. We revealed apical aneurysm and mid-ventricular obstruction during echocardiography and specified anatomical characteristics of aneurysm during computer tomography. There was no evidence of obstructive coronary artery disease during coronary angiography. Taking into consideration multiple cerebral infarcts, aneurysm resection and left ventricular plastics was performed. Electronic microscopy of myocardium confirmed the diagnosis of hypertrophic cardiomyopathy.

Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer.

Science.gov (United States)

Lawrenson, Kate; Li, Qiyuan; Kar, Siddhartha; Seo, Ji-Heui; Tyrer, Jonathan; Spindler, Tassja J; Lee, Janet; Chen, Yibu; Karst, Alison; Drapkin, Ronny; Aben, Katja K H; Anton-Culver, Hoda; Antonenkova, Natalia; Baker, Helen; Bandera, Elisa V; Bean, Yukie; Beckmann, Matthias W; Berchuck, Andrew; Bisogna, Maria; Bjorge, Line; Bogdanova, Natalia; Brinton, Louise A; Brooks-Wilson, Angela; Bruinsma, Fiona; Butzow, Ralf; Campbell, Ian G; Carty, Karen; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Chen, Anne; Chen, Zhihua; Cook, Linda S; Cramer, Daniel W; Cunningham, Julie M; Cybulski, Cezary; Dansonka-Mieszkowska, Agnieszka; Dennis, Joe; Dicks, Ed; Doherty, Jennifer A; Dörk, Thilo; du Bois, Andreas; Dürst, Matthias; Eccles, Diana; Easton, Douglas T; Edwards, Robert P; Eilber, Ursula; Ekici, Arif B; Fasching, Peter A; Fridley, Brooke L; Gao, Yu-Tang; Gentry-Maharaj, Aleksandra; Giles, Graham G; Glasspool, Rosalind; Goode, Ellen L; Goodman, Marc T; Grownwald, Jacek; Harrington, Patricia; Harter, Philipp; Hasmad, Hanis Nazihah; Hein, Alexander; Heitz, Florian; Hildebrandt, Michelle A T; Hillemanns, Peter; Hogdall, Estrid; Hogdall, Claus; Hosono, Satoyo; Iversen, Edwin S; Jakubowska, Anna; James, Paul; Jensen, Allan; Ji, Bu-Tian; Karlan, Beth Y; Kruger Kjaer, Susanne; Kelemen, Linda E; Kellar, Melissa; Kelley, Joseph L; Kiemeney, Lambertus A; Krakstad, Camilla; Kupryjanczyk, Jolanta; Lambrechts, Diether; Lambrechts, Sandrina; Le, Nhu D; Lee, Alice W; Lele, Shashi; Leminen, Arto; Lester, Jenny; Levine, Douglas A; Liang, Dong; Lissowska, Jolanta; Lu, Karen; Lubinski, Jan; Lundvall, Lene; Massuger, Leon F A G; Matsuo, Keitaro; McGuire, Valerie; McLaughlin, John R; Nevanlinna, Heli; McNeish, Ian; Menon, Usha; Modugno, Francesmary; Moysich, Kirsten B; Narod, Steven A; Nedergaard, Lotte; Ness, Roberta B; Azmi, Mat Adenan Noor; Odunsi, Kunle; Olson, Sara H; Orlow, Irene; Orsulic, Sandra; Weber, Rachel Palmieri; Pearce, Celeste L; Pejovic, Tanja; Pelttari, Liisa M; Permuth-Wey, Jennifer; Phelan, Catherine M; Pike, Malcolm C; Poole, Elizabeth M; Ramus, Susan J; Risch, Harvey A; Rosen, Barry; Rossing, Mary Anne; Rothstein, Joseph H; Rudolph, Anja; Runnebaum, Ingo B; Rzepecka, Iwona K; Salvesen, Helga B; Schildkraut, Joellen M; Schwaab, Ira; Sellers, Thomas A; Shu, Xiao-Ou; Shvetsov, Yurii B; Siddiqui, Nadeem; Sieh, Weiva; Song, Honglin; Southey, Melissa C; Sucheston, Lara; Tangen, Ingvild L; Teo, Soo-Hwang; Terry, Kathryn L; Thompson, Pamela J; Timorek, Agnieszka; Tsai, Ya-Yu; Tworoger, Shelley S; van Altena, Anne M; Van Nieuwenhuysen, Els; Vergote, Ignace; Vierkant, Robert A; Wang-Gohrke, Shan; Walsh, Christine; Wentzensen, Nicolas; Whittemore, Alice S; Wicklund, Kristine G; Wilkens, Lynne R; Woo, Yin-Ling; Wu, Xifeng; Wu, Anna H; Yang, Hannah; Zheng, Wei; Ziogas, Argyrios; Monteiro, Alvaro; Pharoah, Paul D; Gayther, Simon A; Freedman, Matthew L

2015-09-22

Genome-wide association studies have reported 11 regions conferring risk of high-grade serous epithelial ovarian cancer (HGSOC). Expression quantitative trait locus (eQTL) analyses can identify candidate susceptibility genes at risk loci. Here we evaluate cis-eQTL associations at 47 regions associated with HGSOC risk (P≤10(-5)). For three cis-eQTL associations (P<1.4 × 10(-3), FDR<0.05) at 1p36 (CDC42), 1p34 (CDCA8) and 2q31 (HOXD9), we evaluate the functional role of each candidate by perturbing expression of each gene in HGSOC precursor cells. Overexpression of HOXD9 increases anchorage-independent growth, shortens population-doubling time and reduces contact inhibition. Chromosome conformation capture identifies an interaction between rs2857532 and the HOXD9 promoter, suggesting this SNP is a leading causal variant. Transcriptomic profiling after HOXD9 overexpression reveals enrichment of HGSOC risk variants within HOXD9 target genes (P=6 × 10(-10) for risk variants (P<10(-4)) within 10 kb of a HOXD9 target gene in ovarian cells), suggesting a broader role for this network in genetic susceptibility to HGSOC.

Comparative evaluation of cerebral aneurysms with selective arterially enhanced CT and DSA

International Nuclear Information System (INIS)

Vanderschelden, P.; Flandroy, P.; Dondelinger, R.F.; Martin, D.; Lenelle, J.

1998-01-01

The purpose of our study was to compare selective arterially enhanced spiral computed tomographs (ACT) with digital subtraction angiographies (DSA) in the presurgical assessment of cerebral aneurysms. A total of 24 aneurysms in 18 patients were explored in a prospective study by ACT and DSA, using an interactive combined CT-angiography suite. Dimensions of the aneurysm, its relation to the parent vessel, and the aneurysmal index were defined on DSA and on surface-shaded display of 3D reformatted images obtained from ACT. Results were correlated with surgical findings. Three aneurysms suspected on DSA were not confirmed by ACT. One fusiform aneurysm suspected on DSA corresponded to a sacciform aneurysm on ACT. Surgical findings confirmed 20 sacciform aneurysms. The aneurysmal index could be measured in all 20 cases of sacciform aneurysms on ACT and could not be determined with confidence in 55 % of the cases on DSA. DSA and ACT gave identical results in 35 % of cases. In 10 %, the index measured by ACT was superior to that determined by DSA for aneurysms which had a diameter of less than 3 mm. In conclusion, the combination of DSA and ACT improved the results of DSA alone. ACT is a reliable method to measure the aneurysmal index in aneurysms with a diameter superior to 3 mm. (orig.)

Flow diversion in vasculitic intracranial aneurysms? Repair of giant complex cavernous carotid aneurysm in polyarteritis nodosa using Pipeline embolization devices: first reported case.

Science.gov (United States)

Martinez Santos, Jaime; Kaderali, Zul; Spears, Julian; Rubin, Laurence A; Marotta, Thomas R

2016-07-01

Intracranial aneurysms in polyarteritis nodosa (PAN) are exceedingly rare lesions with unpredictable behavior that pose real challenges to microsurgical and endovascular interventions owing to their inflammatory nature. We introduce a safe and effective alternative for treating these aneurysms using Pipeline embolization devices (PEDs). A 20-year-old man presented with diplopia, headaches, chronic abdominal pain, and weight loss. Diagnostic evaluations confirmed PAN, including bilateral giant cavernous carotid aneurysms. Cyclophosphamide and steroids achieved significant and sustained clinical improvement, with a decision to follow the aneurysms serially. Seven years later the left unruptured aneurysm enlarged, causing a sudden severe headache and a cavernous sinus syndrome. Treatment of the symptomatic aneurysm was pursued using flow diversion (PED) and the internal carotid artery was successfully reconstructed with a total of four overlapping PEDs. At 6 months follow-up, complete exclusion of the aneurysm was demonstrated, with symptomatic recovery. This is the first description of using a flow-diverting technique in an inflammatory vasculitis. In this case, PEDs not only attained a definitive closure of the aneurysm but also reconstructed the damaged and fragile arterial segment affected with vasculitis. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Portal circulation aneurysms: two case reviews

International Nuclear Information System (INIS)

Perret, W. L.; Silva, A de.; Elzarka, A.; Schelleman, A.

2007-01-01

Venous aneurysms of the superior mesenteric vein and portal vein are an uncommon occurrence and often an incidental finding. They can also be associated with hepatocellular disease and portal hypertension. We present CT and ultrasound findings of these entities. The management of venous aneurysms is generally conservative with serial imaging

Transluminal color-coded three-dimensional magnetic resonance angiography for visualization of signal Intensity distribution pattern within an unruptured cerebral aneurysm: preliminarily assessment with anterior communicating artery aneurysms

International Nuclear Information System (INIS)

Satoh, T.; Ekino, C.; Ohsako, C.

2004-01-01

The natural history of unruptured cerebral aneurysm is not known; also unknown is the potential growth and rupture in any individual aneurysm. The authors have developed transluminal color-coded three-dimensional magnetic resonance angiography (MRA) obtained by a time-of-flight sequence to investigate the interaction between the intra-aneurysmal signal intensity distribution patterns and configuration of unruptured cerebral aneurysms. Transluminal color-coded images were reconstructed from volume data of source magnetic resonance angiography by using a parallel volume-rendering algorithm with transluminal imaging technique. By selecting a numerical threshold range from a signal intensity opacity chart of the three-dimensional volume-rendering dataset several areas of signal intensity were depicted, assigned different colors, and visualized transparently through the walls of parent arteries and an aneurysm. Patterns of signal intensity distribution were analyzed with three operated cases of an unruptured anterior communicating artery aneurysm and compared with the actual configurations observed at microneurosurgery. A little difference in marginal features of an aneurysm was observed; however, transluminal color-coded images visualized the complex signal intensity distribution within an aneurysm in conjunction with aneurysmal geometry. Transluminal color-coded three-dimensional magnetic resonance angiography can thus provide numerical analysis of the interaction between spatial signal intensity distribution patterns and aneurysmal configurations and may offer an alternative and practical method to investigate the patient-specific natural history of individual unruptured cerebral aneurysms. (orig.)

Application of dual volume reconstruction technique in embolization of intracranial aneurysms

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Xiang-hai ZHANG

2014-03-01

Full Text Available Objective　To explore the value of dual volume reconstruction technique in Guglielmi detachable coil (GDC embolization of intracranial aneurysms. Methods　Three-dimensional imaging data of 20 patients received GDC embolization of intracranial aneurysms from Jun. 2012 to Apr. 2013 were analyzed for dual volume reconstruction. The value of application of dual volume reconstruction was evaluated by the detection rate of coils bolus, degree of aneurysm occlusion, the length of aneurysm sac and aneurysm neck before and after embolization, and the characteristics and clinical value of the reconstructed images. Results 　A total of 20 coil boluses were detected by dual volume reconstruction images, and the detection rate was 100%. Among all of 20 patients, no visualization of contrast medium in the aneurysm was found in 13 patients, while contrast agent was found in the aneurysm sac in 3 patients and in the aneurysm neck in 4 patients. The length of aneurysm neck and sac was somewhat changed before and after embolization with no statistically significant difference (P>0.05. The dual volume reconstruction could reveal coil bolus, vessels, cranium and fusion images, and the aneurysms could be shown by different imaging modes according to the clinical requirement. Conclusion　Dual volume reconstruction technique can display the location of coil bolus, degree of occlusion and aneurysm size, and evaluate the embolization effect by multifarious imaging modes, providing a great deal of information for the evaluation of GDC embolization of intracranial aneurysm. DOI: 10.11855/j.issn.0577-7402.2014.02.13

Headache, cerebral aneurysms, and the use of triptans and ergot derivatives.

Science.gov (United States)

Baron, Eric P

2015-05-01

Uncertainty exists regarding the correlation between unruptured cerebral aneurysms and their role in headache etiology. It is also unclear whether surgical endovascular treatment may improve or worsen the headache, and if there are predictable factors for headache outcome such as pre-existing headache features, aneurysm characteristics, or other medical history. There is debate regarding safe treatment of migraine in patients with aneurysms, both before and after endovascular treatments. Particularly, there is hesitancy to use the triptans and ergot derivatives such as dihydroergotamine because of their vasoconstrictive effects and concern for adverse events related to the aneurysm such as aneurysmal instability and rupture. To review the literature regarding the anatomy, pathophysiology, and association between headache, untreated vs surgically treated aneurysms, and the use of triptans and ergot derivatives for migraine treatment in this setting. Associations between some headaches and aneurysms may exist. Some chronic headaches may respond to surgical aneurysm repair while others may worsen. These associations are undefined by current literature because of variable results, study methods, and limited data. Prospective studies are needed which incorporate pre- and post-procedure headache character and diagnosis, aneurysm characteristics, type of aneurysm repair, associated risk factors for worsening post-procedure headache, and ultimately combining all of these data to better predict headache outcome following surgical aneurysm treatment. Lastly, the caution and avoidance of triptan and ergot derivative use for migraine in the setting of aneurysm is not supported by the current evidence, and much of this concern may be excessive and unwarranted, although more evidence confirming safety is needed. © 2015 American Headache Society.

Postoperative subdural hygroma and chronic subdural hematoma after unruptured aneurysm surgery: age, sex, and aneurysm location as independent risk factors.

Science.gov (United States)

Park, Jaechan; Cho, Jae-Hoon; Goh, Duck-Ho; Kang, Dong-Hun; Shin, Im Hee; Hamm, In-Suk

2016-02-01

This study investigated the incidence and risk factors for the postoperative occurrence of subdural complications, such as a subdural hygroma and resultant chronic subdural hematoma (CSDH), following surgical clipping of an unruptured aneurysm. The critical age affecting such occurrences and follow-up results were also examined. The case series included 364 consecutive patients who underwent aneurysm clipping via a pterional or superciliary keyhole approach for an unruptured saccular aneurysm in the anterior cerebral circulation between 2007 and 2013. The subdural hygromas were identified based on CT scans 6-9 weeks after surgery, and the volumes were measured using volumetry studies. Until their complete resolution, all the subdural hygromas were followed using CT scans every 1-2 months. Meanwhile, the CSDHs were classified as nonoperative or operative lesions that were treated by bur-hole drainage. The age and sex of the patients, aneurysm location, history of a subarachnoid hemorrhage (SAH), and surgical approach (pterional vs superciliary) were all analyzed regarding the postoperative occurrence of a subdural hygroma or CSDH. The follow-up results of the subdural complications were also investigated. Seventy patients (19.2%) developed a subdural hygroma or CSDH. The results of a multivariate analysis showed that advanced age (p = 0.003), male sex (p 60 years, which achieved a 70% sensitivity and 69% specificity with regard to predicting such subdural complications. The female patients ≤ 60 years of age showed a negligible incidence of subdural complications for all aneurysm groups, whereas the male patients > 60 years of age showed the highest incidence of subdural complications at 50%-100%, according to the aneurysm location. The subdural hygromas detected 6-9 weeks postoperatively showed different follow-up results, according to the severity. The subdural hygromas that converted to a CSDH were larger in volume than the subdural hygromas that resolved

Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors

DEFF Research Database (Denmark)

Nickels, Stefan; Truong, Thérèse; Hein, Rebecca

2013-01-01

Various common genetic susceptibility loci have been identified for breast cancer; however, it is unclear how they combine with lifestyle/environmental risk factors to influence risk. We undertook an international collaborative study to assess gene-environment interaction for risk of breast cance...

Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors

NARCIS (Netherlands)

Nickels, S.; Truong, T.; Hein, R.; Stevens, K.; Buck, K.; Behrens, S.; Eilber, U.; Schmidt, M.; Haberle, L.; Vrieling, A.; Gaudet, M.; Figueroa, J.; Schoof, N.; Spurdle, A.B.; Rudolph, A.; Fasching, P.A.; Hopper, J.L.; Makalic, E.; Schmidt, D.F.; Southey, M.C.; Beckmann, M.W.; Ekici, A.B.; Fletcher, O.; Gibson, L.; Idos, S. Silva; Peto, J.; Humphreys, M.K.; Wang, J; Cordina-Duverger, E.; Menegaux, F.; Nordestgaard, B.G.; Bojesen, S.E.; Lanng, C.; Anton-Culver, H.; Ziogas, A.; Bernstein, L.; Clarke, C.A.; Brenner, H.; Muller, H.; Arndt, V.; Stegmaier, C.; Brauch, H.; Bruning, T.; Harth, V.; Genica, N.; Mannermaa, A.; Kataja, V.; Kosma, V.M.; Hartikainen, J.M.; Lambrechts, D.; Smeets, D.; Neven, P.; Paridaens, R.; Flesch-Janys, D.; Obi, N.; Wang-Gohrke, S.; Couch, F.J.; Olson, J.E.; Vachon, C.M.; Giles, G.G.; Severi, G.; Baglietto, L.; Offit, K.; John, E.M.; Miron, A.; Andrulis, I.L.; Knight, J.A.; Glendon, G.; Mulligan, A.M.; Chanock, S.J.; Lissowska, J.; Liu, J.; Cox, A; Cramp, H.; Connley, D.; Balasubramanian, S.; Dunning, A.M.; Shah, M.; Trentham-Dietz, A.; Newcomb, P.; Titus, L.; Egan, K.; Cahoon, E.K.; Rajaraman, P.; Sigurdson, A.J.; Doody, M.M.; Guenel, P.; Pharoah, P.D.; Schmidt, M.K.; Hall, P.; Easton, D.F.; Garcia-Closas, M.; Milne, R.L.; Chang-Claude, J.; et al.,

2013-01-01

Various common genetic susceptibility loci have been identified for breast cancer; however, it is unclear how they combine with lifestyle/environmental risk factors to influence risk. We undertook an international collaborative study to assess gene-environment interaction for risk of breast cancer.

Should indications for WEB aneurysm treatment be enlarged? Report of a series of 20 patients with aneurysms in "atypical" locations for WEB treatment.

Science.gov (United States)

Pierot, L; Biondi, A; Narata, A-P; Mihalea, C; Januel, A-C; Metaxas, G; Bibi, R; Caroff, J; Soize, S; Cognard, C; Spelle, L; Herbreteau, D

2017-06-01

Flow disruption with the WEB device is an innovative technique for the endovascular treatment of wide neck bifurcation aneurysms. Good clinical practice trials have shown high safety of this treatment with good efficacy. Technical developments (single layer devices and smaller microcatheters) facilitate the treatment, potentially leading to enlargement of indications. This series is collecting aneurysms in "atypical" locations for WEB treatment and analyzing safety and efficacy of this treatment. In each participating center, patients with aneurysms treated with WEB were prospectively included in a local database. Patients treated for aneurysms in "atypical" locations were extracted. Patient and aneurysm characteristics, intraoperative complications, and anatomical results at the end of the procedure and at last follow-up were collected and analyzed. Five French neurointerventional centers included 20 patients with 20 aneurysms in "atypical" locations for WEB treatment treated with WEB. Aneurysm locations were ICA carotid-ophthalmic in 9 aneurysms (45.0%), ICA posterior communicating in 4 (20.0%), Pericallosal artery in 5 (25.0%), and basilar artery between P1 and superior cerebellar artery in 2 (10.0%). There were no complications (thromboembolic or intraoperative rupture) in this series. At follow-up (mean: 7.4 months), adequate occlusion was obtained in 100.0% of aneurysms. This series confirms that it is possible to enlarge indications of WEB treatment to "atypical" locations with good safety and efficacy. These data have to be confirmed in large prospective series. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

International Subarachnoid Aneurysm Trial 2009 : Endovascular Coiling of Ruptured Intracranial Aneurysms Has No Significant Advantage Over Neurosurgical Clipping

NARCIS (Netherlands)

Bakker, Nicolaas A.; Metzemaekers, Jan D. M.; Groen, Rob J. M.; Mooij, Jan Jakob A.; Van Dijk, J. Marc C.

In the May 2009 issue of The Lancet Neurology, the 5-year follow-up results of the International Subarachnoid Aneurysm Trial (ISAT) were published. The authors concluded that, although the significant difference between coiling and neurosurgical clipping of ruptured intracranial aneurysms in terms

Internal mammary artery aneurysm in Marfan syndrome: case report

Energy Technology Data Exchange (ETDEWEB)

Common, A A; Pressacco, J; Wilson, J K [Univ. of Toronto, Dept. of Mecial Imaging, Toronto, Ontario (Canada)

1999-02-01

Marfan syndrome has a pleomorphic phenotype. Those affected have abnormalities in the eyes and in the nervous, cardiovascular and musculoskeletal systems. Among these abnormalities are many reported aneurysms, involving the ascending, descending thoracic and abdominal aorta, the sinus of Valsalva, and the internal carotid artery. We report a left internal mammary artery (LIMA) aneurysm in a patient with Marfan syndrome and no other known predisposition to such an aneurysm. No other case of LIMA aneurysm in Marfan syndrome has, to our knowledge, been reported. (author)

Internal mammary artery aneurysm in Marfan syndrome: case report

International Nuclear Information System (INIS)

Common, A.A.; Pressacco, J.; Wilson, J.K.

1999-01-01

Marfan syndrome has a pleomorphic phenotype. Those affected have abnormalities in the eyes and in the nervous, cardiovascular and musculoskeletal systems. Among these abnormalities are many reported aneurysms, involving the ascending, descending thoracic and abdominal aorta, the sinus of Valsalva, and the internal carotid artery. We report a left internal mammary artery (LIMA) aneurysm in a patient with Marfan syndrome and no other known predisposition to such an aneurysm. No other case of LIMA aneurysm in Marfan syndrome has, to our knowledge, been reported. (author)

Epidemiological study of 183 patients with spontaneous rupture of cerebral aneurysm

International Nuclear Information System (INIS)

Antonova, D.; Tasheva, E.

2015-01-01

Cerebral vessels aneurysms represent a significant part of the cerebral vessels pathology. There is no extensive study on that in Bulgaria. We present a study of 183 patients with spontaneous rupture of cerebral aneurysm, diagnosed and treated in UMHATEM ‘Pirogov’, Sofia. We used clinical methods - data from subject history, analysis of the accompanying documentation, subject medical chart; imaging-diagnostics methods - CT, DSA and MRI; and statistical methods. A total of 183 patients with ruptured intracranial aneurysms were studied. 65% were females and 35% were men.The ration female/male is 1.86, The mean age of all patients is 53.1 ±10.1 years. The highest incidence of ruptured aneurysms is seen in the age group 50 to 59 years. Aneurysms of a. cerebri media and a. communicants anterior are the most frequent (63.4% in total); while the lest are those of a basilaris (4.9%). 88.5% of the aneurysms in the studied group are small, 9.8% are large and 1.6% are giant. Intracranial hematomas are seen in 13.1% of the patients with ruptured aneurysms. Most frequently hematomas are connected with a. cerebri media and a.communicants anterior (87.5% in total). Patients with multiple aneurysms are 11.5% in total, 85.7% of them with an aneurysm of a.cerebri media. The incidence of ruptured cerebral aneurysms is higher amongst female. Frequency in the fifth decade of life is the highest. Most often seen are the aneurysms of a. cerebri media and a. communicants anterior, and the least - those of a. basilaris. Intracranial hematomas most frequently are associated with ruptures of a. cerebri media and a. communicants anterior, in patients with multiple aneurysms the highest is the frequency of aneurysms of a. cerebri media. (authors)

Characterizing saccular aortic arch aneurysms from the geometry-flow dynamics relationship.

Science.gov (United States)

Natsume, Kayoko; Shiiya, Norihiko; Takehara, Yasuo; Sugiyama, Masataka; Satoh, Hiroshi; Yamashita, Katsushi; Washiyama, Naoki

2017-06-01

Low wall shear stress (WSS) has been reported to be associated with accelerated atherosclerosis, aneurysm growth, or rupture. We evaluated the geometry of aortic arch aneurysms and their relationship with WSS by using the 4-dimensional flow magnetic resonance imaging to better characterize the saccular aneurysms. We analyzed the geometry in 100 patients using multiplanar reconstruction of computed tomography. We evaluated WSS and vortex flow using 4-dimensional flow magnetic resonance imaging in 16 of them, which were compared with 8 age-matched control subjects and eight healthy young volunteers. Eighty-two patients had a saccular aneurysm, and 18 had a fusiform aneurysm. External diameter/aneurysm length ratio and sac depth/neck width ratio of the fusiform aneurysms were constant at 0.76 ± 0.18 and 0.23 ± 0.09, whereas those of saccular aneurysms, especially those involving the outer curvature, were higher and more variable. Vortex flow was always present in the aneurysms, resulting in low WSS. When the sac depth/neck width ratio was less than 0.8, peak WSS correlated inversely with luminal diameter even in the saccular aneurysms. When this ratio exceeded 0.8, which was the case only with the saccular aneurysms, such correlation no longer existed and WSS was invariably low. Fusiform aneurysms elongate as they dilate, and WSS is lower as the diameter is larger. Saccular aneurysms dilate without proportionate elongation, and they, especially those occupying the inner curvature, have higher and variable sac depth/neck width ratio. When this ratio exceeds 0.8, WSS is low regardless of diameter, which may explain their malignant clinical behavior. Copyright © 2016 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

Endovascular treatment of intracranial aneurysms using liquid polymer injection

International Nuclear Information System (INIS)

Liu Jianmin; Huang Qinghai; Xu Yi; Hong Bo

2004-01-01

Objective: To report our preliminary clinical experience in embolization of intracranial aneurysms with liquid polymer (Onyx). Methods: One case of posterior communicating artery aneurysm was treated with Onyx and microcoils, while the other one with multiple basilar aneurysms was treated by Onyx combined with stent-coiling technique. Results: All the aneurysms were totally occluded with patency of parent arteries. There was no procedure-related complication. The patients recovered well during clinical follow-up for 3 months. The angiographic follow-up in one patient showed the result was stable and Onyx was totally apart from the flow in parent artery. Conclusions: Short-term result suggests that endovascular treatment of intracranial aneurysms with liquid polymer is safe and effective, however more experience is needed. (authors)

Double microcatheter technique for coiling intracranial aneurysms with unfavorable configurations

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WANG Shu-yuan

2013-03-01

Full Text Available Background Although stent-assisted technique has been widely used clinically, it is still hard to perform coiling treatment for complicated intracranial aneurysms, including relatively wide-necked tiny aneurysms and lobulated wide-necked aneurys ms with important branch vessels arising from the neck. This study aims to investigate the feasibility and clinical results of endovascular treatment for intracranial aneurysms with unfavorable configurations by using double microcatheter technique. Methods Thirty-three cases with complicated aneurysms were treated by using double microcatheter technique from April 2008 to November 2012. The locations of these aneurysms were anterior communicating artery (7 cases, posterior communicating artery (14 cases, ophthalmic artery (3 cases, anterior choroidal artery (3 cases, origin of posterior inferior cerebellar artery (3 cases, bifurcation of middle cerebral artery (2 cases and top of basilar artery (1 case. The mean neck- to-body (width ratio was 0.80 ± 0.21 (0.53-1.33. The mean body (width-to-dome (height ratio was 1.12 ± 0.37 (0.55-2.12. The mean dome (height-to-neck ratio was 1.26 ± 0.41 (0.65-2.96. The diameter of neck ≥4 mm was seen in 7 aneurysms, neck≥height in 9 and neck ≥width in 8. Besides, there were 9 very small aneurysms (the maximum diameter≤3 mm and 13 aneurysms with important branch vessels arising from the neck. All of these aneurysms were treated with coiling by using double microcatheter technique. Results All aneurysms were successfully embolized. Immediate postembolization angiography showed no residual contrast filling in 19 aneurysms, and residual filling in 14. There were some small loops protruding from the neck without influencing the blood flow in 12 cases. At discharge, according to modified Rankin Scale (mRS, 30 patients with 0-1 scores presented excellent clinical outcomes and 3 patients with 2 scores had cognitive dysfunction and moderate disability due to vasospasm

Assessment of relatedness between neurocan gene as bipolar disorder susceptibility locus and schizophrenia

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Lilijana Oruč

2012-11-01

Full Text Available Large scale genetic association meta-analyses showed that neurocan (NCAN gene polymorphism rs1064395 is susceptibility locus for bipolar disorder. These studies also included patients with bipolar disorder originated from Bosnia and Herzegovina. Followed by theory of shared genetic elements between bipolar disorder and schizophrenia susceptibility, other studies explored several genetic factors with schizophrenia vulnerability as well. In this work, authors investigated the association between previously confirmed bipolar disorder genetic risk factor-neurocan with schizophrenia in a population sample of Bosnia and Herzegovina.Ethical aspects of this research were assessed by Ethics Committee of Clinical Center University of Sarajevo. Blood samples for DNA extraction were taken from the total of 86 patients and healthy individuals who previously signed informed consent. Genotyping for rs 1064395 was done using direct sequencing method. A case-control analysis of common genetic polymorphism within neurocan gene and schizophrenia status in a consecutively sampled patient cohort have been done using Fisher-exact test with odds-ratio calculation. No statistically significant allele and genotype association with disease status was found (p>0.05.Our finding supports the fact that large-scale genetic association studies approach need to be employed when detecting the variants with small additive effect in phenotypes with complex ethiology.

Noninvasive radiodiagnosis of aneurysms of the thoracic aorta

International Nuclear Information System (INIS)

Todua, F.I.; Petsko, A.P.; Arablinskij, A.V.; Kazanchyan, P.O.; Nikitaev, N.S.; Sultanaliev, T.A.

1990-01-01

The paper is concerned with analysis of the results of X-ray investigation of 45 patients with aneurysms of the distal part of the arch and descending part of the thoracic aorta. X-ray investigation helped to establish correct diagnosis of aneurysm of the aorta in 42 of 45 patients (93.3 %) on the basis of the detection of intense additional shadow formation in left pulmonary field, unseparable from the aortic shadow. The use of a new method of ultrasound diagnosis-duplex scanning-made it possible to establish the presence of aneurysm and to determine its sizes as well as to visualize the relation of the left subclavicular artery to aneurysm in 17 of 21 patients. CT-semiotics of aneurysms of the descending part of the thoracic aorta consisted in its dilatation over 3.5 cm, wall calcification, thrombosis of the cavity and change of the adjacent structures. Basing on the analysis of these signs correct diagnosis was established in 34 of 35 examinees (97.1 %)

Development of an artifact-free aneurysm clip

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Brack Alexander

2016-09-01

Full Text Available For the treatment of intracranial aneurysms with aneurysm clips, usually a follow-up inspection in MRI is required. To avoid any artifacts, which can make a proper diagnosis difficult, a new approach for the manufacturing of an aneurysm clip entirely made from fiber-reinforced plastics has been developed. In this paper the concept for the design of the clip, the development of a new manufacturing technology for the fiber-reinforced components as well as first results from the examination of the components in phantom MRI testing is shown.

Renal aneurysm and arteriovenous fistula

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Savastano, S.; Feltrin, G.P.; Miotto, D.; Chiesura-Corona, M.; Padua Univ.

1990-01-01

Embolization was performed in six patients with renal artery aneurysms (n=2) and arteriovenous fistulas (AVF) (n=5). The aneurysms were observed in one patient with fibromuscular dysplasia and in another with Ehlers-Danlos syndrome. All the AVFs were intraparenchymal and secondary to iatrogenic trauma. Elective embolization was performed in five patients with good clinical results at follow-up between 1 and 9 years. Because of rupture of the aneurysm emergency embolization was attempted without success in the patient with Ehlers-Danlos syndrome, and nephrectomy was carried out. A postembolization syndrome complicated three procedures in which Gelfoam and polyvinyl alcohol were used; in two of these cases unexpected reflux of the particulate material occurred, resulting in limited undesired ablation of the ipsilateral renal parenchyma. Embolization is the most reliable and effective treatment for intrarenal vascular abnormalities since it minimizes the parenchymal damage. (orig.)

Contrast settling in cerebral aneurysm angiography

International Nuclear Information System (INIS)

Wang Zhijie; Hoffmann, Kenneth R; Guterman, Lee R; Wang Zhou; Rudin, Stephen; Meng Hui

2005-01-01

During angiography, blood flow is visualized with a radiopaque contrast agent, which is denser than blood. In complex vasculature, such as cerebral saccular aneurysms, the density difference may produce an appreciable gravity effect, where the contrast material separates from blood and settles along the gravity direction. Although contrast settling has been occasionally reported before, the fluid mechanics behind it have not been explored. Furthermore, the severity of contrast settling in cerebral aneurysms varies significantly from case to case. Therefore, a better understanding of the physical principles behind this phenomenon is needed to evaluate contrast settling in clinical angiography. In this study, flow in two identical groups of sidewall aneurysm models with varying parent-vessel curvature was examined by angiography. Intravascular stents were deployed into one group of the models. To detect contrast settling, we used lateral view angiography. Time-intensity curves were analysed from the angiographic data, and a computational fluid dynamic analysis was conducted. Results showed that contrast settling was strongly related to the local flow dynamics. We used the Froude number, a ratio of flow inertia to gravity force, to characterize the significance of gravity force. An aneurysm with a larger vessel curvature experienced higher flow, which resulted in a larger Froude number and, thus, less gravitational settling. Addition of a stent reduced the aneurysmal flow, thereby increasing the contrast settling. We found that contrast settling resulted in an elevated washout tail in the time-intensity curve. However, this signature is not unique to contrast settling. To determine whether contrast settling is present, a lateral view should be obtained in addition to the anteroposterior (AP) view routinely used clinically so as to rule out contrast settling and hence to enable a valid time-intensity curve analysis of blood flow in the aneurysm

RARE PRESENTATION OF SYMPTOMATIC BILATERAL PROXIMAL POPLITEAL ARTERY ANEURYSM

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Thulasikumar Ganapathy

2016-07-01

Full Text Available True Popliteal artery aneurysm is the most common of all the peripheral artery aneurysms. We present a case of proximal popliteal artery aneurysm involvement both lower limb presented with gangrene in one lower limb and incapacitating claudication pain on the other lower limb. We have successfully repaired both sides aneurysm in the same sitting with Poly Tetra Fluro Ethylene (PTFE graft, as the patient also had multiple venous perforators’ involvement on both sides, which left us only with synthetic graft repair option rather than venous graft repair.

Chemokine MCP1/CCL2 and RANTES/CCL5 gene polymorphisms influence Henoch–Schönlein purpura susceptibility and severity

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Hsin-Hui Yu

2015-04-01

Conclusion: Our results support the fact that chemokines play important roles in the pathogenesis of HSP. MCP1/CCL2 gene polymorphisms were associated with susceptibility for HSP. RANTES/CCL5 gene polymorphisms may be related to disease severity and HSP nephritis.

Antibiotic Susceptibility, Genetic Diversity, and the Presence of Toxin Producing Genes in Campylobacter Isolates from Poultry.

Science.gov (United States)

Lee, Jeeyeon; Jeong, Jiyeon; Lee, Heeyoung; Ha, Jimyeong; Kim, Sejeong; Choi, Yukyung; Oh, Hyemin; Seo, Kunho; Yoon, Yohan; Lee, Soomin

2017-11-17

This study examined antibiotic susceptibility, genetic diversity, and characteristics of virulence genes in Campylobacter isolates from poultry. Chicken ( n = 152) and duck ( n = 154) samples were collected from 18 wet markets in Korea. Campylobacter spp. isolated from the carcasses were identified by PCR. The isolated colonies were analyzed for antibiotic susceptibility to chloramphenicol, amikacin, erythromycin, tetracycline, ciprofloxacin, nalidixic acid, and enrofloxacin. The isolates were also used to analyze genetic diversity using the DiversiLab TM system and were tested for the presence of cytolethal distending toxin ( cdt ) genes. Campylobacter spp. were isolated from 45 poultry samples out of 306 poultry samples (14.7%) and the average levels of Campylobacter contamination were 22.0 CFU/g and 366.1 CFU/g in chicken and duck samples, respectively. Moreover, more than 90% of the isolates showed resistance to nalidixic acid and ciprofloxacin. Genetic correlation analysis showed greater than 95% similarity between 84.4% of the isolates, and three cdt genes ( cdtA , cdtB , and cdtC ) were present in 71.1% of Campylobacter isolates. These results indicate that Campylobacter contamination should be decreased to prevent and treat Campylobacter foodborne illness.

Virulence Genes and Antibiotic Susceptibilities of Uropathogenic E. coli Strains.

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Uzun, Cengiz; Oncül, Oral; Gümüş, Defne; Alan, Servet; Dayioğlu, Nurten; Küçüker, Mine Anğ

2015-01-01

The aim of this study is to detect the presence of and possible relation between virulence genes and antibiotic resistance in E. coli strains isolated from patients with acute, uncomplicated urinary tract infections (UTI). 62 E. coli strains isolated from patients with acute, uncomplicated urinary tract infections (50 strains isolated from acute uncomplicated cystitis cases (AUC); 12 strains from acute uncomplicated pyelonephritis cases (AUP)) were screened for virulence genes [pap (pyelonephritis-associated pili), sfa/foc (S and F1C fimbriae), afa (afimbrial adhesins), hly (hemolysin), cnf1 (cytotoxic necrotizing factor), aer (aerobactin), PAI (pathogenicity island marker), iroN (catecholate siderophore receptor), ompT (outer membrane protein T), usp (uropathogenic specific protein)] by PCR and for antimicrobial resistance by disk diffusion method according to CLSI criteria. It was found that 56 strains (90.3%) carried at least one virulence gene. The most common virulence genes were ompT (79%), aer (51.6%), PAI (51.6%) and usp (56.5%). 60% of the strains were resistant to at least one antibiotic. The highest resistance rates were against ampicillin (79%) and co-trimoxazole (41.9%). Fifty percent of the E. coli strains (31 strains) were found to be multiple resistant. Eight (12.9%) out of 62 strains were found to be ESBL positive. Statistically significant relationships were found between the absence of usp and AMP - SXT resistance, iroN and OFX - CIP resistance, PAI and SXT resistance, cnf1 and AMP resistance, and a significant relationship was also found between the presence of the afa and OFX resistance. No difference between E. coli strains isolated from two different clinical presentations was found in terms of virulence genes and antibiotic susceptibility.

Assessment of long-term effects of aneurysms trapping and extracranial-intracranial bypass surgery in patients with complex cerebral aneurysms

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MAO Zhi-qi

2012-02-01

Full Text Available Objective To study the long-term effects of extracranial-intracranial (EC-IC bypass and aneurysms trapping in patients with complex cerebral aneurysms. Methods Seventeen patients with complex aneurysms, who underwent EC-IC bypass and aneurysms trapping from 2008 to 2009, were followed up. Clinical records were reviewed, modified Rankin Scale (mRS was recorded at admission, discharging, and follow-up point, and activities of daily living (ADL scale (Barthel Index at admission and follow-up point. Results Seventeen patients (11 males and 6 females were followed up. At admission mRS scores were 1.06 ± 0.87, Barthel index 91.10 ± 10.30. Superficial temporal artery-middle cerebral artery (STA-MCA was performed in 8 cases, extracarotid artery-great saphenous vein-middle cerebral artery (ECA-GSV-MCA in 5 cases, extracarotid artery-radial artery-middle cerebral artery (ECA-RA-MCA in 3 cases, occipital artery-posterior inferior cerebellar artery (OA-PICA in 1 case. Patients were followed up for 19-39 months (mean 28.67 months. At follow-up point, 2 patients (11.76% died, operation-related mortality was 5.88% (1/17, operation-related morbidity 5.88% (1/17, mRS scores 1.07 ± 1.16, Barthel index 96.40 ± 10.30. Conclusion Patients with complex aneurysms who were impossible to be treated with surgical clipping or endovascular intervention could be cured with extracranial-intracranial bypass and aneurysms trapping, and good follow-up results were acquired.

Aneurysm Complications

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... Susco Chair of Research North Shore University Hospital, Brain Aneurysm Center Chair of Research The Christopher C. Getch, MD Chair of Research Carol W. Harvey Memorial Chair of Research Kristen’s Legacy of Love Chair of Research TeamCindy Alcatraz Chair of Research ...

18F-FDG PET-CT uptake is a feature of both normal diameter and aneurysmal aortic wall and is not related to aneurysm size

International Nuclear Information System (INIS)

Barwick, Tara D.; Lyons, O.T.A.; Waltham, M.; Mikhaeel, N.G.; O'Doherty, M.J.

2014-01-01

Aortic metabolic activity is suggested to correlate with presence and progression of aneurysmal disease, but has been inadequately studied. This study investigates the 2-[ 18 F] fluoro-2-deoxy-D-glucose ( 18 F-FDG) uptake in a population of infra-renal abdominal aortic aneurysms (AAA), compared to a matched non-aneurysmal control group. The Positron Emission Tomography - Computed Tomography (PET/CT) database was searched for infra-renal AAA. Exclusion criteria were prior repair, vasculitis, and saccular/mycotic thoracic or thoraco-abdominal aneurysms. Matching of 159 non-aneurysmal ( max ) and target to background mediastinal blood pool ratio (TBR) were documented. Predictors of FDG uptake (age, sex, aortic diameter, hypertension, statin use, and diabetes) were assessed using univariate analysis. Follow-up questionnaires were sent to referring clinicians. Aneurysms (n = 151) and controls (n = 159) were matched (p > 0.05) for age, sex, diabetes, hypertension, smoking status, statin use, and indication for PET/CT. Median aneurysm diameter was 5.0 cm (range 3.2-10.4). On visual analysis there was no significant difference in the overall numbers with increased visual uptake 24 % (36/151) in the aneurysm group vs. 19 % (30/159) in the controls, p = ns. SUV max was slightly lower in the aneurysm group vs. controls (mean (2 SD) 1.75(0.79) vs. 1.84(0.58), p = 0.02). However there was no difference in TBR between the AAA group and controls (mean (2 SD) 1.03 (0.46) vs. 1.05(0.31), p = 0.36). During a median 18 (interquartile range 8-35) months' follow-up 20 were repaired and four were confirmed ruptured. The level of metabolic activity as assessed by 18 F-FDG PET/CT in infra-renal AAA does not correlate with aortic size and does not differ between aneurysms and matched controls. (orig.)

History, Evolution, and Continuing Innovations of Intracranial Aneurysm Surgery.

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Lai, Leon T; O'Neill, Anthea H

2017-06-01

Evolution in the surgical treatment of intracranial aneurysms is driven by the need to refine and innovate. From an early application of the Hunterian carotid ligation to modern-day sophisticated aneurysm clip designs, progress has been made through dedication and technical maturation of cerebrovascular neurosurgeons to overcome challenges in their practices. The global expansion of endovascular services has challenged the existence of aneurysm surgery, changing the complexity of the aneurysm case mix and volume that are referred for surgical repair. Concepts of how to best treat intracranial aneurysms have evolved over generations and will continue to do so with further technological innovations. As with the evolution of any type of surgery, innovations frequently arise from the criticism of current techniques. Copyright © 2017 Elsevier Inc. All rights reserved.

Morphological and Hemodynamic Discriminators for Rupture Status in Posterior Communicating Artery Aneurysms.

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Lv, Nan; Wang, Chi; Karmonik, Christof; Fang, Yibin; Xu, Jinyu; Yu, Ying; Cao, Wei; Liu, Jianmin; Huang, Qinghai

2016-01-01

The conflicting findings of previous morphological and hemodynamic studies on intracranial aneurysm rupture may be caused by the relatively small sample sizes and the variation in location of the patient-specific aneurysm models. We aimed to determine the discriminators for aneurysm rupture status by focusing on only posterior communicating artery (PCoA) aneurysms. In 129 PCoA aneurysms (85 ruptured, 44 unruptured), clinical, morphological and hemodynamic characteristics were compared between the ruptured and unruptured cases. Multivariate logistic regression analysis was performed to determine the discriminators for rupture status of PCoA aneurysms. While univariate analyses showed that the size of aneurysm dome, aspect ratio (AR), size ratio (SR), dome-to-neck ratio (DN), inflow angle (IA), normalized wall shear stress (NWSS) and percentage of low wall shear stress area (LSA) were significantly associated with PCoA aneurysm rupture status. With multivariate analyses, significance was only retained for higher IA (OR = 1.539, p PCoA aneurysms.

The gene expression profile of resistant and susceptible Bombyx mori strains reveals cypovirus-associated variations in host gene transcript levels.

Science.gov (United States)

Guo, Rui; Wang, Simei; Xue, Renyu; Cao, Guangli; Hu, Xiaolong; Huang, Moli; Zhang, Yangqi; Lu, Yahong; Zhu, Liyuan; Chen, Fei; Liang, Zi; Kuang, Sulan; Gong, Chengliang

2015-06-01

High-throughput paired-end RNA sequencing (RNA-Seq) was performed to investigate the gene expression profile of a susceptible Bombyx mori strain, Lan5, and a resistant B. mori strain, Ou17, which were both orally infected with B. mori cypovirus (BmCPV) in the midgut. There were 330 and 218 up-regulated genes, while there were 147 and 260 down-regulated genes in the Lan5 and Ou17 strains, respectively. Gene ontology (GO) enrichment and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment for differentially expressed genes (DEGs) were carried out. Moreover, gene interaction network (STRING) analyses were performed to analyze the relationships among the shared DEGs. Some of these genes were related and formed a large network, in which the genes for B. mori cuticular protein RR-2 motif 123 (BmCPR123) and the gene for B. mori DNA replication licensing factor Mcm2-like (BmMCM2) were key genes among the common up-regulated DEGs, whereas the gene for B. mori heat shock protein 20.1 (Bmhsp20.1) was the central gene among the shared down-regulated DEGs between Lan5 vs Lan5-CPV and Ou17 vs Ou17-CPV. These findings established a comprehensive database of genes that are differentially expressed in response to BmCPV infection between silkworm strains that differed in resistance to BmCPV and implied that these DEGs might be involved in B. mori immune responses against BmCPV infection.

Endovascular stenting for treatment of complex intracranial aneurysms: preliminary outcome

International Nuclear Information System (INIS)

Huang Qinghai; Liu Jianmin; Xu Yi; Hong Bo; Zhao Wenyuan; Zhou Xiaoping

2004-01-01

Objective: To summarize the technique and efficiency of combined endovascular stenting and Guglielmi detachable coils (GDC) packing for the treatment of intracranial wide-necked bifurcation aneurysms and recanalized aneurysms. Methods: The coronary stents were implanted across the necks of 5 intracranial wide-necked aneurysms (two at bifurcation of ICA, one at basilar artery and two recanalized PcoA aneurysms). The porous stents covered the ostia of vital side branches and perforating vessels in three cases. Microcatheters were introduced into the aneurysmal sac through the stent mesh and then followed by GDCs embolizing the aneurysms. Results: The stents were deployed in parent artery in all cases. Total occlusion was obtained in 4 cases, while more than 90% in one case with patency of the parent arteries and vital perforating arteries. Follow-up angiography performed in all patients 3-6 months later revealed no intrastent stenosis. All the patients recovered well except III nerve palsy in one patient which diminished 3 months later. Conclusion: Endovaseular therapy combined stent implantation and microcoil placement maybe a valid alteration for the treatment of wide-necked bifurcation aneurysms and recanalized aneurysms, which shows promise clinical application in the future. The ostia of vital side branches covered with stents showed no effect on hemodynamics. (authors)

Role of MHC-Linked Susceptibility Genes in the Pathogenesis of Human and Murine Lupus

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Manfred Relle

2012-01-01

Full Text Available Systemic lupus erythematosus (SLE is a chronic autoimmune disease characterized by the production of autoantibodies against nuclear antigens and a systemic inflammation that can damage a broad spectrum of organs. SLE patients suffer from a wide variety of symptoms, which can affect virtually almost any tissue. As lupus is difficult to diagnose, the worldwide prevalence of SLE can only be roughly estimated to range from 10 and 200 cases per 100,000 individuals with dramatic differences depending on gender, ethnicity, and location. Although the treatment of this disease has been significantly ameliorated by new therapies, improved conventional drug therapy options, and a trained expert eye, the underlying pathogenesis of lupus still remain widely unknown. The complex etiology reflects the complex genetic background of the disease, which is also not well understood yet. However, in the past few years advances in lupus genetics have been made, notably with the publication of genome-wide association studies (GWAS in humans and the identification of susceptibility genes and loci in mice. This paper reviews the role of MHC-linked susceptibility genes in the pathogenesis of systemic lupus erythematosus.

Reverse waffle cone technique in management of stent dislodgement into intracranial aneurysms.

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Luo, Chao-Bao; Lai, Yen-Jun; Teng, Michael Mu-Huo; Chang, Feng-Chi; Lin, Chung-Jung; Guo, Wan-Yuo

2013-09-01

Stent-assisted coil embolization (SACE) is a common method to manage intracranial wide-neck aneurysm. Using this technique, a stent must be successfully deployed into the parent artery to cross the aneurysm neck. We describe the reverse waffle cone technique in management of intra-procedural stent dislodgement during SACE of internal carotid artery (ICA) wide-neck aneurysms. Two patients with unruptured wide-neck ICA aneurysms underwent SACE. Intra-procedural forward stent migration occurred during catheterization with proximal stent dislodgement and migration into the aneurysm sac. Navigation of a second stent to bridge the aneurysm neck failed in one patient because the second stent was impeded by the dislodged stent. Using the reverse waffle cone technique, a microcatheter was navigated into the aneurysm sacs. Coils were safely detached into each aneurysm sac without any device assistance. The two wide-neck aneurysms were successfully treated with preservation of flow to the internal carotid arteries. The complication of intra-procedural distal stent migration and dislodgement, with proximal stent prolapse into an aneurysm sac, may not result in a failure to coil the aneurysm. The reverse waffle cone technique provides an effective treatment in the management of this complication. Copyright © 2013 Elsevier Ltd. All rights reserved.

A coil placement technique to treat intracranial aneurysm with incorporated artery

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Chao-Bao Luo

2018-03-01

Conclusion: This technique is effective and safe in managing intracranial aneurysms with IAs. Although aneurysmal recurrence may occur in some aneurysms because of insufficient coiling, this technique is simpler to perform and requires less skill than other techniques. It can be an alternative option for treating some selected intracranial aneurysms with IAs.

Multilevel segmentation of intracranial aneurysms in CT angiography images

Energy Technology Data Exchange (ETDEWEB)

Wang, Yan [Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, California 94122 and University of Lyon, CREATIS, CNRS UMR 5220, INSERM U1206, UCB Lyon1, INSA Lyon, Lyon 69100 (France); Zhang, Yue, E-mail: y.zhang525@gmail.com [Veterans Affairs Medical Center, San Francisco, California 94121 and University of Lyon, CREATIS, CNRS UMR 5220, INSERM U1206, UCB Lyon1, INSA Lyon, Lyon 69100 (France); Navarro, Laurent [Ecole Nationale Superieure des Mines de Saint-Etienne, Saint-Etienne 42015 (France); Eker, Omer Faruk [CHU Montpellier, Neuroradiologie, Montpellier 34000 (France); Corredor Jerez, Ricardo A. [Ecole Polytechnique Federale de Lausanne, Lausanne 1015 (Switzerland); Chen, Yu; Zhu, Yuemin; Courbebaisse, Guy [University of Lyon, CREATIS, CNRS UMR 5220, INSERM U1206, UCB Lyon1, INSA Lyon, Lyon 69100 (France)

2016-04-15

Purpose: Segmentation of aneurysms plays an important role in interventional planning. Yet, the segmentation of both the lumen and the thrombus of an intracranial aneurysm in computed tomography angiography (CTA) remains a challenge. This paper proposes a multilevel segmentation methodology for efficiently segmenting intracranial aneurysms in CTA images. Methods: The proposed methodology first uses the lattice Boltzmann method (LBM) to extract the lumen part directly from the original image. Then, the LBM is applied again on an intermediate image whose lumen part is filled by the mean gray-level value outside the lumen, to yield an image region containing part of the aneurysm boundary. After that, an expanding disk is introduced to estimate the complete contour of the aneurysm. Finally, the contour detected is used as the initial contour of the level set with ellipse to refine the aneurysm. Results: The results obtained on 11 patients from different hospitals showed that the proposed segmentation was comparable with manual segmentation, and that quantitatively, the average segmentation matching factor (SMF) reached 86.99%, demonstrating good segmentation accuracy. Chan–Vese method, Sen’s model, and Luca’s model were used to compare the proposed method and their average SMF values were 39.98%, 40.76%, and 77.11%, respectively. Conclusions: The authors have presented a multilevel segmentation method based on the LBM and level set with ellipse for accurate segmentation of intracranial aneurysms. Compared to three existing methods, for all eleven patients, the proposed method can successfully segment the lumen with the highest SMF values for nine patients and second highest SMF values for the two. It also segments the entire aneurysm with the highest SMF values for ten patients and second highest SMF value for the one. This makes it potential for clinical assessment of the volume and aspect ratio of the intracranial aneurysms.

Knockout of a P-glycoprotein gene increases susceptibility to abamectin and emamectin benzoate in Spodoptera exigua.

Science.gov (United States)

Zuo, Y-Y; Huang, J-L; Wang, J; Feng, Y; Han, T-T; Wu, Y-D; Yang, Y-H

2018-02-01

P-glycoprotein [P-gp or the ATP-binding cassette transporter B1 (ABCB1)] is an important participant in multidrug resistance of cancer cells, yet the precise function of this arthropod transporter is unknown. The aim of this study was to determine the importance of P-gp for susceptibility to insecticides in the beet armyworm (Spodoptera exigua) using clustered regularly interspaced short palindromic repeats/CRISPR-associated 9 (CRISPR/Cas9) gene-editing technology. We cloned an open reading frame (ORF) encoding the S. exigua P-gp protein (SeP-gp) predicted to display structural characteristics common to P-gp and other insect ABCB1 transporters. A knockout line with a frame shift deletion of four nucleotides in the SeP-gp ORF was established using the CRISPR/Cas9 gene-editing system to test its potential role in determining susceptibility to chemical insecticides or insecticidal proteins from the bacterium Bacillus thuringiensis (Bt). Results from comparative bioassays demonstrate that knockout of SeP-gp significantly increases susceptibility of S. exigua by around threefold to abamectin and emamectin benzoate (EB), but not to spinosad, chlorfenapyr, beta-cypermethrin, carbosulfan indoxacarb, chlorpyrifos, phoxim, diafenthiuron, chlorfluazuron, chlorantraniliprole or two Bt toxins (Cry1Ca and Cry1Fa). Our data support an important role for SeP-gp in susceptibility of S. exigua to abamectin and EB and imply that overexpression of SeP-gp may contribute to abamectin and EB resistance in S. exigua. © 2017 The Royal Entomological Society.

Natural history of cerebral saccular aneurysms | Ojini | West African ...

African Journals Online (AJOL)

Aneurysms less than 5mm have a very low rupture rate while those greater than 10mm have a significant risk of subsequent rupture. There is no consensus on the influence of the other reported risk factors such as hypertension, cigarette smoking and aneurysm location, on aneurysmal rupture. Those who have suffered a ...

Changes of incompletely embolized aneurysm with tungsten coils : an experimental study in dogs

International Nuclear Information System (INIS)

Yu, In Kyu; Han, Moon Hee; Kim, Sung Hyun; Won, Hyung Jin; Chang, Kee Hyun; Yeon, Kyung Mo; Choe, Ghee Young; Kim, Sam Soo

1999-01-01

To evaluate changes of residual aneurysms according to the size of aneurysmal neck and thrombogenicity of a tungsten coil after incomplete embolization of experimental lateral aneurysms. Eleven experimental lateral aneurysms with different aneurysmal neck size were created in the common carotid arteries of mongrel dogs. They were then divided into narrow-neck(n=3), wide-neck(n=6) and spontaneously thrombosed control(n=2) groups. After confirmation of aneurysmal patency, incomplete embolizations of varying degrees (about 30% to near total occlusion) were performed using 5mm-diameter tungsten coils. Angiography was performed immediately before and after, and one and six weeks after embolizations. The size of residual aneurysm was measured on each angiogram. After the last angiography embolized aneurysms were excised and examined under light and electron microscopes. On angiograms obtained 6 weeks after embolization, all residual narrow neck aneurysms were completely occluded, whereas in those with a wide-neck, therre was either no change (n=4) or a slight increase in size(n=2). On light microscopy, all narrow-neck aneurysms showed total organized fibrosis while all control aneurysms and half those with a wide neck showed unorganized thrombi. The embolized group showed a higher degree of organization in the aneurysmal cavity than did the control group. Neointima formation was seen in all embolized aneurysms, but no aneurysm showed foreign body reaction. On electron microscopy, uniform thickness of plasma coatings was noted on the surface of the tungsten coils. A wide-neck residual aneurysm may persist or increase in size, while one with a narrow-neck can be thrombosed after incomplete embolization with tungsten coils in a lateral aneurym. Careful consideration might be necessary in the embolization of wide-neck aneurysms. With plasma coatings on its surface and organized fibrosis, tungsten coil can be an useful for embolization of an aneurysm

Association of the solute carrier family 11 member 1 gene polymorphisms with susceptibility to leprosy in a Brazilian sample

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Maria José Franco Brochado

2016-02-01

Full Text Available Natural resistance-associated macrophage protein 1/solute carrier family 11 member 1 gene (Nramp1/Slc11a1 is a gene that controls the susceptibility of inbred mice to intracellular pathogens. Polymorphisms in the human Slc11a1/Nramp1 gene have been associated with host susceptibility to leprosy. This study has evaluated nine polymorphisms of the Slc11a1/Nramp1 gene [(GTn, 274C/T, 469+14G/C, 577-18G/A, 823C/T, 1029 C/T, 1465-85G/A, 1703G/A, and 1729+55del4] in 86 leprosy patients (67 and 19 patients had the multibacillary and the paucibacillary clinical forms of the disease, respectively, and 239 healthy controls matched by age, gender, and ethnicity. The frequency of allele 2 of the (GTn polymorphism was higher in leprosy patients [p = 0.04, odds ratio (OR = 1.49], whereas the frequency of allele 3 was higher in the control group (p = 0.03; OR = 0.66. Patients carrying the 274T allele (p = 0.04; OR = 1.49 and TT homozygosis (p = 0.02; OR = 2.46, such as the 469+14C allele (p = 0.03; OR = 1.53 of the 274C/T and 469+14G/C polymorphisms, respectively, were more frequent in the leprosy group. The leprosy and control groups had similar frequency of the 577-18G/A, 823C/T, 1029C/T, 1465-85G/A, 1703G/A, and 1729+55del4 polymorphisms. The 274C/T polymorphism in exon 3 and the 469+14G/C polymorphism in intron 4 were associated with susceptibility to leprosy, while the allele 2 and 3 of the (GTn polymorphism in the promoter region were associated with susceptibility and protection to leprosy, respectively.

Rrp1b, a new candidate susceptibility gene for breast cancer progression and metastasis.

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Nigel P S Crawford

2007-11-01

Full Text Available A novel candidate metastasis modifier, ribosomal RNA processing 1 homolog B (Rrp1b, was identified through two independent approaches. First, yeast two-hybrid, immunoprecipitation, and functional assays demonstrated a physical and functional interaction between Rrp1b and the previous identified metastasis modifier Sipa1. In parallel, using mouse and human metastasis gene expression data it was observed that extracellular matrix (ECM genes are common components of metastasis predictive signatures, suggesting that ECM genes are either important markers or causal factors in metastasis. To investigate the relationship between ECM genes and poor prognosis in breast cancer, expression quantitative trait locus analysis of polyoma middle-T transgene-induced mammary tumor was performed. ECM gene expression was found to be consistently associated with Rrp1b expression. In vitro expression of Rrp1b significantly altered ECM gene expression, tumor growth, and dissemination in metastasis assays. Furthermore, a gene signature induced by ectopic expression of Rrp1b in tumor cells predicted survival in a human breast cancer gene expression dataset. Finally, constitutional polymorphism within RRP1B was found to be significantly associated with tumor progression in two independent breast cancer cohorts. These data suggest that RRP1B may be a novel susceptibility gene for breast cancer progression and metastasis.

Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci

DEFF Research Database (Denmark)

Kar, Siddhartha P; Adler, Emily; Tyrer, Jonathan

2017-01-01

BACKGROUND: Genome-wide association studies (GWAS) have identified 18 loci associated with serous ovarian cancer (SOC) susceptibility but the biological mechanisms driving these findings remain poorly characterised. Germline cancer risk loci may be enriched for target genes of transcription factors...... (TFs) critical to somatic tumorigenesis. METHODS: All 615 TF-target sets from the Molecular Signatures Database were evaluated using gene set enrichment analysis (GSEA) and three GWAS for SOC risk: discovery (2196 cases/4396 controls), replication (7035 cases/21 693 controls; independent from discovery...... to interact with PAX8 in the literature to the PAX8-target set and applying an alternative to GSEA, interval enrichment, further confirmed this association (P=0.006). Fifteen of the 157 genes from this expanded PAX8 pathway were near eight loci associated with SOC risk at P

Surgical treatment of pararenal aortic aneurysms in the elderly.

Science.gov (United States)

Illuminati, G; D'Urso, A; Ceccanei, G; Caliò, F; Vietri, F

2007-12-01

Until fenestrated endografts will become the standard treatment of pararenal aortic aneurysms, open surgical repair will currently be employed for the repair of this condition. Suprarenal aortic control and larger surgical dissection represent additional technical requirements for the treatment of pararenal aneurysms compared to those of open infrarenal aortic aneurysms, which may be followed by an increased operative mortality and morbidity rate. As this may be especially true when dealing with pararenal aneurysms in an elderly patients' population, we decided to retrospectively review our results of open pararenal aortic aneurysm repair in elderly patients, in order to compare them with those reported in the literature. Twenty-one patients over 75 years of age were operated on for pararenal aortic aneurysms in a ten-year period. Exposure of the aorta was obtained by means of a retroperitoneal access, through a left flank incision on the eleventh rib. When dealing with interrenal aortic aneurysm the left renal artery was revascularized with a retrograde bypass arising from the aortic graft, proximally bevelled on the ostium of the right renal artery. Two patients died of acute intestinal ischemia, yielding a postoperative mortality of 9.5%. Nonfatal complications included 2 pleural effusions, a transitory rise in postoperative serum creatinine levels in 3 cases, and one retroperitoneal hematoma. Mean renal ischemia time was 23 min, whereas mean visceral ischemia time was 19 min. Mean inhospital stay was 11 days. Pararenal aortic aneurysms in the elderly can be surgically repaired with results that are similar to those obtained in younger patients.

Morphological and Hemodynamic Discriminators for Rupture Status in Posterior Communicating Artery Aneurysms.

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Nan Lv

Full Text Available The conflicting findings of previous morphological and hemodynamic studies on intracranial aneurysm rupture may be caused by the relatively small sample sizes and the variation in location of the patient-specific aneurysm models. We aimed to determine the discriminators for aneurysm rupture status by focusing on only posterior communicating artery (PCoA aneurysms.In 129 PCoA aneurysms (85 ruptured, 44 unruptured, clinical, morphological and hemodynamic characteristics were compared between the ruptured and unruptured cases. Multivariate logistic regression analysis was performed to determine the discriminators for rupture status of PCoA aneurysms.While univariate analyses showed that the size of aneurysm dome, aspect ratio (AR, size ratio (SR, dome-to-neck ratio (DN, inflow angle (IA, normalized wall shear stress (NWSS and percentage of low wall shear stress area (LSA were significantly associated with PCoA aneurysm rupture status. With multivariate analyses, significance was only retained for higher IA (OR = 1.539, p < 0.001 and LSA (OR = 1.393, p = 0.041.Hemodynamics and morphology were related to rupture status of intracranial aneurysms. Higher IA and LSA were identified as discriminators for rupture status of PCoA aneurysms.

A clinical feature and therapeutic strategy in pituitary adenomas associated with intracranial aneurysms

International Nuclear Information System (INIS)

Sasagawa, Yasuo; Tachibana, Osamu; Shiraga, Shunsuke; Takata, Hisasi; Akai, Takuya; Iizuka, Hideaki

2012-01-01

We studied the clinical feature and treatment strategy of pituitary adenomas associated with intracranial aneurysms. Among 102 pituitary adenoma patients (mean age: 54.8 years old) who received MR angiography and/or 3D-CT angiography,seven patients (6.9%) had intracranial aneurysms. The association of an aneurysm was more common in large size adenomas (p<0.05). According to the location of the aneurysms,five patients had these in the paraclinoid portion or cavernous portion of the internal carotid artery. Using MR images,we classified the aneurysms associated with pituitary adenomas as non-adjacent,adjacent,and intra-adenoma types. In non-adjacent types,an aneurysm is located apart from the adenoma,and has less chance of exposure during transsphenoidal surgery. In adjacent types,an aneurysm is located adjacent to the adenoma,and could be exposed during transsphenoidal surgery. In intra-adenoma types,an aneurysm is encased in the adenoma. In non-adjacent type aneurysms,a resection of the pituitary adenoma can be carried out before aneurysm treatment due to the low risk of rupture during surgery. In adjacent types,a tumor resection can precede aneurysm treatment in cases of low rupture risk aneurysms and untreatable aneurysms. In intra-adenoma types,adenoma resection should come after treatment of the aneurysms. Neurosurgeons should be careful about not only the presence of aneurysms in preoperative images during transsphenoidal surgery planning,but also their locations and proximity to adenomas. Such information may be crucial in deciding the order of treatment. (author)

Ocular toxoplasmosis: susceptibility in respect to the genes encoding the KIR receptors and their HLA class I ligands

Science.gov (United States)

Ayo, Christiane Maria; Frederico, Fábio Batista; Siqueira, Rubens Camargo; Brandão de Mattos, Cinara de Cássia; Previato, Mariana; Barbosa, Amanda Pires; Murata, Fernando Henrique Antunes; Silveira-Carvalho, Aparecida Perpétuo; de Mattos, Luiz Carlos

2016-01-01

The objective of this study was to investigate the influence of the genes encoding the KIR receptors and their HLA ligands in the susceptibility of ocular toxoplasmosis. A total of 297 patients serologically-diagnosed with toxoplasmosis were selected and stratified according to the presence (n = 148) or absence (n = 149) of ocular scars/lesions due to toxoplasmosis. The group of patients with scars/lesions was further subdivided into two groups according to the type of ocular manifestation observed: primary (n = 120) or recurrent (n = 28). Genotyping was performed by PCR-SSOP. Statistical analyses were conducted using the Chi-square test, and odds ratio with a 95% confidence interval was also calculated to evaluate the risk association. The activating KIR3DS1 gene was associated with increased susceptibility for ocular toxoplasmosis. The activating KIR together with their HLA ligands (KIR3DS1-Bw4-80Ile and KIR2DS1+/C2++ KIR3DS1+/Bw4-80Ile+) were associated with increased susceptibility for ocular toxoplasmosis and its clinical manifestations. KIR-HLA inhibitory pairs -KIR2DL3/2DL3-C1/C1 and KIR2DL3/2DL3-C1- were associated with decreased susceptibility for ocular toxoplasmosis and its clinical forms, while the KIR3DS1−/KIR3DL1+/Bw4-80Ile+ combination was associated as a protective factor against the development of ocular toxoplasmosis and, in particular, against recurrent manifestations. Our data demonstrate that activating and inhibitory KIR genes may influence the development of ocular toxoplasmosis. PMID:27827450

Aneurysm of the superficial femoral artery in an infant

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Watanabe, M.; Komuro, H.; Matoba, K.; Kaneko, M. [Dept. of Paediatric Surgery, Inst. of Clinical Medicine, Univ. of Tsukuba, Ibaraki (Japan); Niitsu, M.; Itai, Y. [Dept. of Radiology, Inst. of Clinical Medicine, Univ. of Tsukuba, Ibaraki (Japan)

2003-04-01

An isolated arterial aneurysm in childhood is extremely rare. We report a 1-year-old girl with an aneurysm of the right superficial femoral artery, presenting as an asymptomatic mass of the thigh. The aneurysm involved the whole superficial femoral artery (9 cm in length), and surgical treatment would have required replacement of the affected artery. Conservative treatment was chosen, influenced by the patient's rapid growth at that time. Non-invasive, 3-D contrast-enhanced magnetic resonance angiography (MRA) was useful as an alternative to conventional angiography for detailed evaluation of the femoral arteries, including the aneurysm. (orig.)

Age and prior blood feeding of Anopheles gambiae influences their susceptibility and gene expression patterns to ivermectin-containing blood meals.

Science.gov (United States)

Seaman, Jonathan A; Alout, Haoues; Meyers, Jacob I; Stenglein, Mark D; Dabiré, Roch K; Lozano-Fuentes, Saul; Burton, Timothy A; Kuklinski, Wojtek S; Black, William C; Foy, Brian D

2015-10-15

Ivermectin has been proposed as a novel malaria transmission control tool based on its insecticidal properties and unique route of acquisition through human blood. To maximize ivermectin's effect and identify potential resistance/tolerance mechanisms, it is important to understand its effect on mosquito physiology and potential to shift mosquito population age-structure. We therefore investigated ivermectin susceptibility and gene expression changes in several age groups of female Anopheles gambiae mosquitoes. The effect of aging on ivermectin susceptibility was analyzed in three age groups (2, 6, and 14-days) of colonized female Anopheles gambiaemosquitoes using standard survivorship assays. Gene expression patterns were then analyzed by transcriptome sequencing on an Illumina HiSeq 2500 platform. RT-qPCR was used to validate transcriptional changes and also to examine expression in a different, colonized strain and in wild mosquitoes, both of which blood fed naturally on an ivermectin-treated person. Mosquitoes of different ages and blood meal history died at different frequencies after ingesting ivermectin. Mortality was lowest in 2-day old mosquitoes exposed on their first blood meal and highest in 6-day old mosquitoes exposed on their second blood meal. Twenty-four hours following ivermectin ingestion, 101 and 187 genes were differentially-expressed relative to control blood-fed, in 2 and 6-day groups, respectively. Transcription patterns of select genes were similar in membrane-fed, colonized, and naturally-fed wild vectors. Transcripts from several unexpected functional classes were highly up-regulated, including Niemann-Pick Type C (NPC) genes, peritrophic matrix-associated genes, and immune-response genes, and these exhibited different transcription patterns between age groups, which may explain the observed susceptibility differences. Niemann-Pick Type 2 genes were the most highly up-regulated transcripts after ivermectin ingestion (up to 160 fold) and

Endovascular treatment of a true posterior communicating artery aneurysm.

Science.gov (United States)

Munarriz, Pablo M; Castaño-Leon, Ana M; Cepeda, Santiago; Campollo, Jorge; Alén, Jose F; Lagares, Alfonso

2014-01-01

Posterior communicating artery (PCoA) aneurysms are most commonly located at the junction of the internal carotid artery and the PCoA. "True" PCoA aneurysms, which originate from the PCoA itself, are rarely encountered. Most previously reported cases were treated surgically mainly before the endovascular option became available. A 53-year-old male presented with sudden onset of right hemiparesis and aphasia. Left middle cerebral artery stroke was diagnosed. Further studies revealed a 3 mm left PCoA aneurysm arising from the PCoA itself, attached to neither the internal carotid artery nor the posterior cerebral artery. Endovascular treatment was performed and the aneurysm was coiled completely. Technical advances in endovascular interventional technology have permitted an additional approach to these lesions. The possible endovascular significance of the treatment of true PCoA aneurysms is discussed.

Mesenteric ischaemia after endovascular coiling of ruptured cerebral aneurysms.

LENUS (Irish Health Repository)

Kamel, M H

2012-02-03

Three patients were referred to a national neurosurgical centre following CT evidence of subarachnoid haemorrhage. The three patients, who were referred from different institutions within a seven week period, were Fisher grade 3 and WFNS Grade I at all times. Angiography showed a PCOM aneurysm in one case, a ruptured Basilar tip aneurysm and an unruptured ACOM aneurysm in another case, and an ACOM aneurysm in the third case. It was decided that the aneurysms were suitable for endovascular coiling. These patients had unremarkable intraoperative catheterizations and coiling but subsequently deteriorated post-operatively due to mesenteric ischaemia. Two patients required colectomy for mesenteric ischaemia, and the third arrested secondary to sepsis from bowel perforation. We discuss the various causes that may explain this association, and we alert the neurosurgical community for this complication which has not been reported before.

MicroRNA gene polymorphisms and environmental factors increase patient susceptibility to hepatocellular carcinoma.

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Yin-Hung Chu

Full Text Available BACKGROUND: Micro RNAs (miRNAs are small RNA fragments that naturally exist in the human body. Through various physiological mechanisms, miRNAs can generate different functions for regulating RNA protein levels and balancing abnormalities. Abnormal miRNA expression has been reported to be highly related to several diseases and cancers. Single-nucleotide polymorphisms (SNPs in miRNAs have been reported to increase patient susceptibility and affect patient prognosis and survival. We adopted a case-control research design to verify the relationship between miRNAs and hepatocellular carcinoma. METHODOLOGY/PRINCIPAL FINDINGS: A total of 525 subjects, including 377 controls and 188 hepatocellular carcinoma patients, were selected. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP and real-time PCR were used to analyze miRNA146a (rs2910164, miRNA149 (rs2292832, miRNA196 (rs11614913, and miRNA499 (rs3746444 genetic polymorphisms between the control group and the case group. The results indicate that people who carry the rs3746444 CT or CC genotypes may have a significantly increased susceptibility to hepatocellular carcinoma (adjusted odds ratio [AOR] = 2.84, 95% confidence interval [CI] = 1.88-4.30. In addition, when combined with environmental risk factors, such as smoking and alcohol consumption, interaction effects were observed between gene polymorphisms and environmental factors (odds ratio [OR] = 4.69, 95% CI = 2.52-8.70; AOR = 3.38, 95% CI = 1.68-6.80. CONCLUSIONS: These results suggest that a significant association exists between miRNA499 SNPs and hepatocellular carcinoma. Gene-environment interactions of miRNA499 polymorphisms, smoking, and alcohol consumption might alter hepatocellular carcinoma susceptibility.

Greater saphenous vein anomaly and aneurysm with subsequent pulmonary embolism

OpenAIRE

Ma, Truong; Kornbau, Craig

2017-01-01

Abstract Venous aneurysms often present as painful masses. They can present either in the deep or superficial venous system. Deep venous system aneurysms have a greater risk of thromboembolism. Though rare, there have been case reports of superficial aneurysms and thrombus causing significant morbidity such as pulmonary embolism. We present a case of an anomalous greater saphenous vein connection with an aneurysm and thrombus resulting in a pulmonary embolism. This is the only reported case o...

Update on the prevention of death from ruptured abdominal aortic aneurysm.

Science.gov (United States)

Jacomelli, Jo; Summers, Lisa; Stevenson, Anne; Lees, Tim; Earnshaw, Jonothan J

2017-09-01

Objectives To monitor the early effect of a national population screening programme for abdominal aortic aneurysm in 65-year-old men. Setting The study used national statistics for death rates from abdominal aortic aneurysm (Office of National Statistics) and hospital admission data in England (Hospital Episode Statistics). Methods Information concerning deaths from abdominal aortic aneurysm (ruptured and non-ruptured) (1999-2014) and hospital admissions for ruptured abdominal aortic aneurysm (2000-2015) was examined. Results The absolute number of deaths from abdominal aortic aneurysm in men and women aged 65 and over has decreased by around 30% from 2001 to 2014, but as the population has increased, the relative reduction was 45.6% and 40.0%, respectively. Some 65% of all abdominal aortic aneurysm deaths are in men aged over 65; women aged 65 and over account for around 31%. Deaths from ruptured abdominal aortic aneurysm in men aged 60-74 (the screened group) appear to be declining at the same rate as in men aged 75 and over. The relative decline in admissions to hospital with ruptured abdominal aortic aneurysm may be greater in men and women aged 60-74 (which contains the screened group of men), than those older, giving the first possible evidence that abdominal aortic aneurysm screening is having an effect. Conclusion The death rate from abdominal aortic aneurysm is declining rapidly in England. There is the first evidence that screening may be contributing to this reduction.

False iliac artery aneurysm following renal transplantation

DEFF Research Database (Denmark)

Levi, N; Sønksen, Jens Otto Reimers; Schroeder, T V

1999-01-01

We report a very rare case of a false iliac artery aneurysm following renal transplantation. The patient was a 51-year-old women who presented with a painful 10 x 10 cm pulsating mass in her left iliac fossa. The patient had received a second cadaveric renal transplantation 5 years previously....... The graft never functioned and transplant nephrectomy was performed 2 weeks later. A CT-scanning showed a 10 x 10 cm large aneurysm arising from the left external iliac artery. At operation a large false aneurysm was identified arising from the original transplant anastomotic site. Due to the extent...

Autism genetic database (AGD: a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites

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Talebizadeh Zohreh

2009-09-01

Full Text Available Abstract Background Autism is a highly heritable complex neurodevelopmental disorder, therefore identifying its genetic basis has been challenging. To date, numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism, but most discoveries either fail to be replicated or account for a small effect. Thus, in most cases the underlying causative genetic mechanisms are not fully understood. In the present work, the Autism Genetic Database (AGD was developed as a literature-driven, web-based, and easy to access database designed with the aim of creating a comprehensive repository for all the currently reported genes and genomic copy number variations (CNVs associated with autism in order to further facilitate the assessment of these autism susceptibility genetic factors. Description AGD is a relational database that organizes data resulting from exhaustive literature searches for reported susceptibility genes and CNVs associated with autism. Furthermore, genomic information about human fragile sites and noncoding RNAs was also downloaded and parsed from miRBase, snoRNA-LBME-db, piRNABank, and the MIT/ICBP siRNA database. A web client genome browser enables viewing of the features while a web client query tool provides access to more specific information for the features. When applicable, links to external databases including GenBank, PubMed, miRBase, snoRNA-LBME-db, piRNABank, and the MIT siRNA database are provided. Conclusion AGD comprises a comprehensive list of susceptibility genes and copy number variations reported to-date in association with autism, as well as all known human noncoding RNA genes and fragile sites. Such a unique and inclusive autism genetic database will facilitate the evaluation of autism susceptibility factors in relation to known human noncoding RNAs and fragile sites, impacting on human diseases. As a result, this new autism database offers a valuable tool for the research

Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study

International Nuclear Information System (INIS)

Conde, João; Silva, Susana N; Azevedo, Ana P; Teixeira, Valdemar; Pina, Julieta Esperança; Rueff, José; Gaspar, Jorge F

2009-01-01

MMR is responsible for the repair of base-base mismatches and insertion/deletion loops. Besides this, MMR is also associated with an anti-recombination function, suppressing homologous recombination. Losses of heterozygosity and/or microsatellite instability have been detected in a large number of skin samples from breast cancer patients, suggesting a potential role of MMR in breast cancer susceptibility. We carried out a hospital-based case-control study in a Caucasian Portuguese population (287 cases and 547 controls) to estimate the susceptibility to non-familial breast cancer associated with some polymorphisms in mismatch repair genes (MSH3, MSH4, MSH6, MLH1, MLH3, PMS1 and MUTYH). Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively. Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. It is possible that some of these common variants in MMR genes contribute significantly to breast cancer susceptibility. However, further studies with a large sample size will be needed to support our results

Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study

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Pina Julieta

2009-09-01

Full Text Available Abstract Background MMR is responsible for the repair of base-base mismatches and insertion/deletion loops. Besides this, MMR is also associated with an anti-recombination function, suppressing homologous recombination. Losses of heterozygosity and/or microsatellite instability have been detected in a large number of skin samples from breast cancer patients, suggesting a potential role of MMR in breast cancer susceptibility. Methods We carried out a hospital-based case-control study in a Caucasian Portuguese population (287 cases and 547 controls to estimate the susceptibility to non-familial breast cancer associated with some polymorphisms in mismatch repair genes (MSH3, MSH4, MSH6, MLH1, MLH3, PMS1 and MUTYH. Results Using unconditional logistic regression we found that MLH3 (L844P, G>A polymorphism GA (Leu/Pro and AA (Pro/Pro genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95 (p = 0.03 and OR = 0.62 (0.41-0.94 (p = 0.03, respectively. Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83, p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49, p = 0.01], GG/AA [OR = 2.11 (1.12-3,98, p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15, p = 0.02] all associated with an increased risk for breast cancer. Conclusion It is possible that some of these common variants in MMR genes contribute significantly to breast cancer susceptibility. However, further studies with a large sample size will be needed to support our results.

Genes and pathways underlying susceptibility to impaired lung function in the context of environmental tobacco smoke exposure

NARCIS (Netherlands)

K. de Jong (Kim); J.M. Vonk (Judith); M. Imboden (Medea); L. Lahousse (Lies); A. Hofman (Albert); G.G. Brusselle (Guy); N.M. Probst-Hensch (Nicole M.); D.S. Postma (Dirkje); H.M. Boezen (Marike)

2017-01-01

textabstractBackground: Studies aiming to assess genetic susceptibility for impaired lung function levels upon exposure to environmental tobacco smoke (ETS) have thus far focused on candidate-genes selected based on a-priori knowledge of potentially relevant biological pathways, such as glutathione

Internal Carotid Artery Blister-Like Aneurysm Caused by Aspergillus – Case Report

International Nuclear Information System (INIS)

Ogawa, Masaki; Sakurai, Keita; Kawaguchi, Takatsune; Naiki-Ito, Aya; Nakagawa, Motoo; Okita, Kenji; Matsukawa, Noriyuki; Shibamoto, Yuta

2015-01-01

Blister-like aneurysm of the supraclinoid internal carotid artery (ICA) is a well-documented cause of subarachnoid hemorrhage. Generally, this type of aneurysm is associated with various conditions such as hypertension, arteriosclerosis, and ICA dissection. Although Aspergillus is the most common organism causing intracranial fungal aneurysmal formation, there is no report of a blister-like aneurysm caused by Aspergillus infection. An 83-year-old man received corticosteroid pulse therapy followed by oral steroid therapy for an inflammatory pseudotumor of the clivus. Two months later, the patient was transported to an emergency department due to the diffuse subarachnoid hemorrhage, classified as Fisher group 4. Subsequent 3D computed tomography angiogram revealed a blister-like aneurysm at the superior wall of the left ICA. Six days later, the patient died of subarachnoid hemorrhage caused by the left ICA aneurysm rerupture. Autopsy revealed proliferation of Aspergillus hyphae in the wall of the aneurysm. Notably, that change was present more densely in the inner membrane than in the outer one. Thus, it was considered that Aspergillus hyphae caused infectious aneurysm formation in the left ICA via hematogenous seeding rather than direct invasion. The blister-like aneurysm is a rare but important cause of subarachnoid hemorrhage. This case report documents another cause of blister-like aneurysms, that is an infectious aneurysm associated with Aspergillus infection

Unraveling the relationship between arterial flow and intra-aneurysmal hemodynamics.

Science.gov (United States)

Morales, Hernán G; Bonnefous, Odile

2015-02-26

Arterial flow rate affects intra-aneurysmal hemodynamics but it is not clear how their relationship is. This uncertainty hinders the comparison among studies, including clinical evaluations, like a pre- and post-treatment status, since arterial flow rates may differ at each time acquisition. The purposes of this work are as follows: (1) To study how intra-aneurysmal hemodynamics changes within the full physiological range of arterial flow rates. (2) To provide characteristic curves of intra-aneurysmal velocity, wall shear stress (WSS) and pressure as functions of the arterial flow rate. Fifteen image-based aneurysm models were studied using computational fluid dynamics (CFD) simulations. The full range of physiological arterial flow rates reported in the literature was covered by 11 pulsatile simulations. For each aneurysm, the spatiotemporal-averaged blood flow velocity, WSS and pressure were calculated. Spatiotemporal-averaged velocity inside the aneurysm linearly increases as a function of the mean arterial flow (minimum R(2)>0.963). Spatiotemporal-averaged WSS and pressure at the aneurysm wall can be represented by quadratic functions of the arterial flow rate (minimum R(2)>0.996). Quantitative characterizations of spatiotemporal-averaged velocity, WSS and pressure inside cerebral aneurysms can be obtained with respect to the arterial flow rate. These characteristic curves provide more information of the relationship between arterial flow and aneurysm hemodynamics since the full range of arterial flow rates is considered. Having these curves, it is possible to compare experimental studies and clinical evaluations when different flow conditions are used. Copyright © 2015 Elsevier Ltd. All rights reserved.

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry

Directory of Open Access Journals (Sweden)

Sousa Inês

2010-03-01

Full Text Available Abstract Background Autism spectrum disorders (ASDs are a group of highly heritable neurodevelopmental disorders which are characteristically comprised of impairments in social interaction, communication and restricted interests/behaviours. Several cell adhesion transmembrane leucine-rich repeat (LRR proteins are highly expressed in the nervous system and are thought to be key regulators of its development. Here we present an association study analysing the roles of four promising candidate genes - LRRTM1 (2p, LRRTM3 (10q, LRRN1 (3p and LRRN3 (7q - in order to identify common genetic risk factors underlying ASDs. Methods In order to gain a better understanding of how the genetic variation within these four gene regions may influence susceptibility to ASDs, a family-based association study was undertaken in 661 families of European ancestry selected from four different ASD cohorts. In addition, a case-control study was undertaken across the four LRR genes, using logistic regression in probands with ASD of each population against 295 ECACC controls. Results Significant results were found for LRRN3 and LRRTM3 (P LRRTM3. Conclusions Overall, our findings implicate the neuronal leucine-rich genes LRRN3 and LRRTM3 in ASD susceptibility.

Visceral artery aneurysms and pseudoaneurysms. Retrospective analysis of interventional endovascular therapy of 43 aneurysms; Aneurysmen und Pseudoaneurysmen viszeraler Arterien. Retrospektive Analyse der interventionellen radiologischen Therapie von 43 Aneurysmen

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Ruhnke, Hannes; Kroencke, Thomas J. [Klinikum Augsburg (Germany). Dept. of Diagnostic and Interventional Radiology and Neuroradiology

2017-07-15

To evaluate the results of interventional endovascular therapy of incidental and symptomatic visceral artery aneurysms in the elective and emergency situation. 43 aneurysms in 38 patients (19 female, 19 male, mean age: 57 ± 16 years [18-82]) were treated between 2011 and 2015. The characteristics of the aneurysms (true vs. false aneurysm, size, etiology, location, symptoms) were considered. Furthermore, we evaluated the intervention with respect to technical success, embolic/occlusive agents used, therapy-associated complications and post-interventional follow-up. 23 true aneurysms (maximum diameter: 22 ± 18 mm [11 - 67mm]) and 20 false aneurysms (maximum diameter: 9 ± 33 mm [3 - 150 mm]) were evaluated. The splenic (n = 14) and renal arteries (n = 18) were most frequently affected. The etiology was most commonly degenerative-atherosclerotic (47%) or iatrogenic post-operative (19%). 18/48 interventions were performed due to active bleeding. False aneurysms were associated significantly more often with active bleeding (63 vs. 25%, p = 0.012). 41/48 treatments were technically successful. Re-intervention was necessary 6 times. In 2 cases the endovascular approach did not succeed. There was a complication rate of 10%, whereby only 4 minor and 1 major complications occurred. No patient suffered from permanent sequelae. Aneurysms were primarily treated by using coils and if necessary additional embolic agents (liquid embolic agent or vascular plugs) (75%). In the follow-up period, reperfusion of treated aneurysms occurred at a rate of 7% (n = 3). Interventional endovascular therapy of visceral artery aneurysms is safe and effective in the elective treatment of incidental aneurysms as well as in significantly more frequent hemorrhaging false aneurysms in the emergency situation.

Sex-related differences in patients treated surgically for aneurysmal subarachnoid hemorrhage