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Association of manganese superoxide dismutase gene polymorphism (Ala-9Val) and breast cancer in males and females
Bica, Claudia Giuliano;Cruz, Ivana Beatrice Manica da;Silva, Leonardo Leiria de Moura da;Toscani, Nadima Vieira;Zettler, Cláudio Galleano;Graudenz, Márcia Silveira;
Jornal Brasileiro de Patologia e Medicina Laboratorial , 2007, DOI: 10.1590/S1676-24442007000300012
Abstract: introduction: one of the several metabolic pathways involved in breast carcinogenesis is the human polymorphism in the mitochondrial targeting sequence ala-9val of the manganese superoxide dismutase (mnsod) gene, which has been previously associated with increased risk of breast cancer in females. since there is no previous report on this polymorphism in male breast cancer, the objective of this study is to analyze mnsod polymorphism in a population of males and females with breast cancer from the southernmost state of brazil, compared to healthy controls. methods: a case-control study of one hundred patients affected by breast cancer (11 men and 89 women) and 370 healthy age-adjusted database controls was performed. dna was extracted from paraffin-embedded tumoral tissue. mnsod polymorphism was determined by pcr-rflp techniques using restriction enzyme hae iii. chi-square test was used to compare mnsod frequency distribution. results: mnsod genotypic frequencies in all patients with breast cancer were aa = 15%; av = 56%; vv = 29% and controls aa = 6.5%; av = 68.1% and vv = 25.4%. both male and female patients with breast cancer presented significantly higher aa frequencies compared to controls (p = 0.035), suggesting strong association of this genotype with breast cancer. a 2.15-fold (95% confidence interval [ci] 1.393-4.541) risk of breast cancer was found among individuals carrying the mnsod aa allele-containing genotypes compared with the mnsod vv and av genotypes. discussion: these results confirm the already established association of mnsod aa genotype with female breast cancer and further indicate a similar frequency distribution and increased risk in the male population.
A Genomewide Screen for Suppressors of Alu-Mediated Rearrangements Reveals a Role for PIF1  [PDF]
Karen M. Chisholm, Sarah D. Aubert, Krister P. Freese, Virginia A. Zakian, Mary-Claire King, Piri L. Welcsh
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0030748
Abstract: Alu-mediated rearrangement of tumor suppressor genes occurs frequently during carcinogenesis. In breast cancer, this mechanism contributes to loss of the wild-type BRCA1 allele in inherited disease and to loss of heterozygosity in sporadic cancer. To identify genes required for suppression of Alu-mediated recombination we performed a genomewide screen of a collection of 4672 yeast gene deletion mutants using a direct repeat recombination assay. The primary screen and subsequent analysis identified 12 candidate genes including TSA, ELG1, and RRM3, which are known to play a significant role in maintaining genomic stability. Genetic analysis of the corresponding human homologs was performed in sporadic breast tumors and in inherited BRCA1-associated carcinomas. Sequencing of these genes in high risk breast cancer families revealed a potential role for the helicase PIF1 in cancer predisposition. PIF1 variant L319P was identified in three breast cancer families; importantly, this variant, which is predicted to be functionally damaging, was not identified in a large series of controls nor has it been reported in either dbSNP or the 1000 Genomes Project. In Schizosaccharomyces pombe, Pfh1 is required to maintain both mitochondrial and nuclear genomic integrity. Functional studies in yeast of human PIF1 L319P revealed that this variant cannot complement the essential functions of Pfh1 in either the nucleus or mitochondria. Our results provide a global view of nonessential genes involved in suppressing Alu-mediated recombination and implicate variation in PIF1 in breast cancer predisposition.
Antiretroviral Therapy as a Factor Protective against Anal Dysplasia in HIV-Infected Males Who Have Sex with Males  [PDF]
Carmen Hidalgo-Tenorio, Mar Rivero-Rodriguez, Concepción Gil-Anguita, Mercedes Lopez De Hierro, Pablo Palma, Jessica Ramírez-Taboada, Javier Esquivias, Miguel Angel López-Ruz, Rosario Javier-Martínez, Juan Pasquau-Lia?o
PLOS ONE , 2014, DOI: 10.1371/journal.pone.0092376
Abstract: Objectives Chronic infection with oncogenic HPV genotype is associated with the development of anal dysplasia. Antiretroviral therapy (ART) has been shown to decrease the incidence of cervical carcinoma in women with HIV. We sought to: 1) describe the prevalence and grade of anal dysplasia and HPV infection in our study subjects; 2) analyze the grade of correlation between anal cytology, PCR of high-risk HPV, and histology; 3) identify the factors associated with the appearance of ≥AIN2 lesions. Design Cross-sectional, prospective study. Methods A cohort of HIV-positive males (n = 140, mean age = 37 years) who have sex with males (MSM) had epidemiological, clinical and analytical data collected. Anal mucosa samples were taken for cytology, HPV PCR genotyping, and anoscopy for histological analysis. Results Within the cohort, 77.1% were being treated with ART, 8.5% anoscopy findings were AIN2, and 11.4% carcinoma in situ; 74.2% had high-risk (HR), 59.7% low-risk (LR) HPV genotypes and 46.8% had both. The combination of cytology with PCR identifying HR-HPV better predicts the histology findings than either of these factors alone. Logistic regression highlighted ART as a protective factor against ≥AIN2 lesions (OR: 0.214; 95%CI: 0.054–0.84). Anal/genital condylomas (OR: 4.26; 95%CI: 1.27–14.3), and HPV68 genotype (OR: 10.6; 95%CI: 1.23–91.47) were identified as risk factors. Conclusions In our cohort, ART has a protective effect against dysplastic anal lesions. Anal/genital warts and HPV68 genotype are predictors of ≥AIN2 lesions. Introducing PCR HPV genotype evaluation improves screening success over that of cytology alone.
Risk factors for HIV infection in Males who have Sex with Males (MSM) in Bangladesh
Philip A Chan, Omar A Khan
BMC Public Health , 2007, DOI: 10.1186/1471-2458-7-153
Abstract: Data on MSM in Bangladesh was collected and analyzed from numerous primary and secondary sources, including government ministries, non-profit health organizations, and personal communications.The overall prevalence of HIV in Bangladesh is relatively low, but surveillance data indicate that infection has reached significant proportions in certain high-risk groups and may soon spread to other groups, specifically MSM.The epidemiology of HIV infection in other countries suggests that increasing rates of HIV in higher-risk populations can precede an epidemic in the general population. We review the data concerning MSM, IDU and HIV in Bangladesh from a variety of sources and propose ways to prevent HIV transmission.Bangladesh has a predominantly Muslim population of roughly 150 million people. Located between India and Burma, Bangladesh has a relatively low reported HIV prevalence in the general population, of less than 0.2% [1]. Due to the discrepancy between reported cases and actual cases, WHO/UNAIDS has estimated that approximately 7,500 people may actually have HIV in Bangladesh (Table 1). The first case of HIV was reported in a foreign drug smuggler in 1986 [2]. Since then, reported cases to the National AIDS Committee of Bangladesh have increased significantly to over 450 in 2003–2004 [3]. There are several groups at particularly high risk for HIV/AIDS in Bangladesh, and include intravenous drug users (IDU), commercial sex workers (CSW), males who have sex with males (MSM), truck drivers, migrant workers, and rickshaw pullers [3]. Within these groups, there is a disproportionate burden of disease, including sexually transmitted diseases (STDs). While the underlying social determinants of health such as poverty, access to medical care, education, and healthcare structure are most likely the root causes of these diseases, the more proximal causes include low condom use, high number of sexual partners, and relatively low HIV-related knowledge [4]. This represents a r
Should we screen for masked hypertension in patient with vascular disease?
Pascal Delsart, Philippe Marboeuf, Cedric Delhaye, et al
Vascular Health and Risk Management , 2010, DOI: http://dx.doi.org/10.2147/VHRM.S9980
Abstract: uld we screen for masked hypertension in patient with vascular disease? Original Research (3193) Total Article Views Authors: Pascal Delsart, Philippe Marboeuf, Cedric Delhaye, et al Published Date May 2010 Volume 2010:6 Pages 333 - 338 DOI: http://dx.doi.org/10.2147/VHRM.S9980 Pascal Delsart1, Philippe Marboeuf1, Cedric Delhaye2, Gilles Lemesle2, Claire Mounier-Vehier1 1Service de Médecine Vasculaire et Hypertension Artérielle, 2Service d’hémodynamique et de Cardiologie B, University Hospital of Lille, France Background: The influence of hypertension on cardiovascular risk is well known. Ambulatory blood pressure measurement (ABPM) is able to identify patients with masked hypertension (MH) underdetected by clinical BP measurement. The benefit of screening for MH in a highrisk population was investigated. Aims: To detect MH in a population with no prior history of hypertension and medically treated for peripheral or coronary arterial disease. Methods: Thirty-eight consecutive patients with peripheral or coronary artery disease documented with arteriography, without a history of hypertension, and with an admission BP < 140/90 mmHg underwent ABPM after discharge. Ambulatory BP ≥ 125/80 mmHg were defined as MH. Results: MH was found in 11 patients (28.9%). The MH group had a mean systolic and diastolic hospitalization BP significantly higher (127 versus 115 mmHg, respectively, P = 0.002 and 76 versus 66 mmHg, P = 0.01), and tended to have a higher admission systolic BP and pulse pressure (127 versus 121 mmHg, respectively, P = 0.07; and 54 versus 46 mmHg, P = 0.06). The first BP measurement on the 24-hour ABPM was significantly higher in the MH group 140 versus 121 mmHg, P = 0.001, for systolic BP and 84 versus 74 mmHg, P = 0.03, for diastolic BP. Conclusions: MH was found in patients with documented and medically treated vascular disease. BP in the prehypertensive range is associated with MH. Systematic screening for MH in this high-risk population requires further investigation.
Chromosomal Abnormalities in Iranian Infertile Males who are Candidates for Assisted Reproductive Techniques
Iman Salahshourifar,Mohammad Ali Sadighi Gilani,Najmeh sadat Masoudi,Hamid Gourabi
International Journal of Fertility & Sterility , 2007,
Abstract: Background: The present study offers our contribution on the topic by a retrospective analysis of the prevalence of chromosomal abnormalities in a population of Iranian infertile men attending assisted reproduction programs.Materials and Methods: Cytogenetic analysis was performed according to standard methods on cultured cells obtained from the patient peripheral blood. In all, 874 files belonging to male partner of each couple were classified as follows: azoospermic, oligozoospermic and patients with low sperm quality in respect of morphology and motility.Results: Chromosomal abnormalities were observed in 136(15.5%) individuals of the whole population studied including 12.0 %, 1.2 % and 2.0% of azoospermic, oligozoospermic and patients with low sperm quality, respectively. Of those, 116 (13.2%) had sex chromosome abnormalities and 20(2.3%) had autosomal chromosome abnormalities.Conclusion: We observed high frequency of aneuploidy and sex chromosomal mosaicism in azoospermic men and high structural aberrations in males with low sperm quality. We suggested that type of chromosomal abnormalities had an inverse relation to sperm count. So that, high chromosomal aneuploidy was detected in males with lower sperm count and high structural aberration was detected in males with low sperm quality. Chromosomal abnormalities are a major cause of male infertility. Consequently, Genetic testing and counselling is indicated for infertile men with abnormal semen parameters with either abnormal karyotype or normal karyotype before applying assisted reproductive techniques.
Should we screen for masked hypertension in patient with vascular disease?  [cached]
Pascal Delsart,Philippe Marboeuf,Cedric Delhaye,et al
Vascular Health and Risk Management , 2010,
Abstract: Pascal Delsart1, Philippe Marboeuf1, Cedric Delhaye2, Gilles Lemesle2, Claire Mounier-Vehier11Service de Médecine Vasculaire et Hypertension Artérielle, 2Service d’hémodynamique et de Cardiologie B, University Hospital of Lille, FranceBackground: The influence of hypertension on cardiovascular risk is well known. Ambulatory blood pressure measurement (ABPM) is able to identify patients with masked hypertension (MH) underdetected by clinical BP measurement. The benefit of screening for MH in a highrisk population was investigated.Aims: To detect MH in a population with no prior history of hypertension and medically treated for peripheral or coronary arterial disease.Methods: Thirty-eight consecutive patients with peripheral or coronary artery disease documented with arteriography, without a history of hypertension, and with an admission BP < 140/90 mmHg underwent ABPM after discharge. Ambulatory BP ≥ 125/80 mmHg were defined as MH.Results: MH was found in 11 patients (28.9%). The MH group had a mean systolic and diastolic hospitalization BP significantly higher (127 versus 115 mmHg, respectively, P = 0.002 and 76 versus 66 mmHg, P = 0.01), and tended to have a higher admission systolic BP and pulse pressure (127 versus 121 mmHg, respectively, P = 0.07; and 54 versus 46 mmHg, P = 0.06). The first BP measurement on the 24-hour ABPM was significantly higher in the MH group 140 versus 121 mmHg, P = 0.001, for systolic BP and 84 versus 74 mmHg, P = 0.03, for diastolic BP.Conclusions: MH was found in patients with documented and medically treated vascular disease. BP in the prehypertensive range is associated with MH. Systematic screening for MH in this high-risk population requires further investigation.Keywords: blood pressure, monitoring, masked hypertension, vascular disease
Resting-State Brain Activity in Adult Males Who Stutter  [PDF]
Yun Xuan, Chun Meng, Yanhui Yang, Chaozhe Zhu, Liang Wang, Qian Yan, Chunlan Lin, Chunshui Yu
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0030570
Abstract: Although developmental stuttering has been extensively studied with structural and task-based functional magnetic resonance imaging (fMRI), few studies have focused on resting-state brain activity in this disorder. We investigated resting-state brain activity of stuttering subjects by analyzing the amplitude of low-frequency fluctuation (ALFF), region of interest (ROI)-based functional connectivity (FC) and independent component analysis (ICA)-based FC. Forty-four adult males with developmental stuttering and 46 age-matched fluent male controls were scanned using resting-state fMRI. ALFF, ROI-based FCs and ICA-based FCs were compared between male stuttering subjects and fluent controls in a voxel-wise manner. Compared with fluent controls, stuttering subjects showed increased ALFF in left brain areas related to speech motor and auditory functions and bilateral prefrontal cortices related to cognitive control. However, stuttering subjects showed decreased ALFF in the left posterior language reception area and bilateral non-speech motor areas. ROI-based FC analysis revealed decreased FC between the posterior language area involved in the perception and decoding of sensory information and anterior brain area involved in the initiation of speech motor function, as well as increased FC within anterior or posterior speech- and language-associated areas and between the prefrontal areas and default-mode network (DMN) in stuttering subjects. ICA showed that stuttering subjects had decreased FC in the DMN and increased FC in the sensorimotor network. Our findings support the concept that stuttering subjects have deficits in multiple functional systems (motor, language, auditory and DMN) and in the connections between them.
Should Attractive Males Sneak: The Trade-Off between Current and Future Offspring  [PDF]
Ulrika Candolin, Leon Vlieger
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0057992
Abstract: Alternative reproductive tactics are predicted to be adopted by less competitive males when competition for fertilization is intense. Yet, in some species, competitively superior males use an alternative tactic alongside the conventional tactic. This can jeopardize their success through the conventional tactic, but surprisingly little attention has been paid to this cost. We investigated 1) the degree to which competitive males sneak fertilize eggs in the polygamous threespine stickleback, Gasterosteus aculeatus, and 2) if males balance the cost of sneaking against its benefit. We found competitive males that succeeded in establishing a territory and in attracting spawning females to perform most sneak fertilizations. However, when we reduced the benefit of sneak attempts, by reducing visibility and the success rate of sneak attempts, males sneaked less. When we increased the cost of sneak attempts, by increasing the perceived value of current offspring (by mating males to preferred females rather than unpreferred females or no females), the interest of males in sneak opportunities decreased. Intriguingly, larger males, who presumably had a higher probability of future reproduction, were more willing to risk their current offspring for sneak opportunities. These findings suggest that competitive males that are attractive to females carefully balance costs against benefits in their sneaking decisions. More broadly, our results imply that changes in the environment can influence the cost-benefit ratio of sneaking and alter the distribution of fertilizations in a population. We end with discussing the implications that alterations in sneaking behavior could have for the operation of sexual selection in changing environments.
Awareness regarding female breast cancer in Kashmiri males - A study  [cached]
Sajad Ahmad Salati,Ajaz Rather
Online Journal of Health & Allied Sciences , 2010,
Abstract: Breast cancer is a major killer disease in females globally and in developing regions, where the early cancer detection facilities are unavailable, prognosis is even worse. Awareness about this disease can lead to early detection and thereby decrease the morbidity and mortality. A self designed questionnaire was used to study the level of awareness regarding breast cancer among males. The questionnaire had 15 questions and on the basis on score attained, the subjects were classified as having poor, average or good breast cancer awareness. Out of 624 participants, 555(89%) had poor breast cancer awareness and 47(7.5%) had average awareness. Only 22 (3.5%) had good awareness about breast cancer. The level of awareness regarding female breast cancer in Kashmiri males is very low. Measures need to be taken to spread awareness about this disease in males so that they can play a vital role in early detection of this disease.
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