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  1. Article ; Online: Feasibility of Utilizing PREMM Score for Lynch Syndrome Identification in an Urban, Minority Patient Population.

    Adviento, Brigid / Conner, Michael / Sarkisian, Alexander / Walano, Nicolette / Andersson, Hans / Karlitz, Jordan

    Journal of primary care & community health

    2021  Volume 12, Page(s) 21501327211020973

    Abstract: ... The ... ...

    Abstract The PREMM
    MeSH term(s) Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Feasibility Studies ; Germ-Line Mutation ; Humans ; Risk Factors
    Language English
    Publishing date 2021-05-13
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2550221-9
    ISSN 2150-1327 ; 2150-1319
    ISSN (online) 2150-1327
    ISSN 2150-1319
    DOI 10.1177/21501327211020973
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  2. Article ; Online: Feasibility of Utilizing PREMM Score for Lynch Syndrome Identification in an Urban, Minority Patient Population

    Brigid Adviento / Michael Conner / Alexander Sarkisian / Nicolette Walano / Hans Andersson / Jordan Karlitz

    Journal of Primary Care & Community Health, Vol

    2021  Volume 12

    Abstract: The PREMM 5 model is a web-based clinical prediction algorithm that estimates the gene-specific risk of an individual carrying a Lynch syndrome germline mutation based on targeted family history questions. The objectives of our study were to determine ... ...

    Abstract The PREMM 5 model is a web-based clinical prediction algorithm that estimates the gene-specific risk of an individual carrying a Lynch syndrome germline mutation based on targeted family history questions. The objectives of our study were to determine the feasibility of screening for LS in an urban, minority patient population in a primary care setting using the PREMM 5 model and characterize patient barriers associated with difficulty completing the questions. Participants were recruited from Tulane Internal Medicine primary care clinics on 9 random collection dates. Our data illustrates the difficulty patients have in recalling important details necessary to answer the PREMM questionnaire.
    Keywords Computer applications to medicine. Medical informatics ; R858-859.7 ; Public aspects of medicine ; RA1-1270
    Language English
    Publishing date 2021-05-01T00:00:00Z
    Publisher SAGE Publishing
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Clinical Markers Associated With Risk of Suicide or Drug Overdose Among Individuals With Smoking Exposure: A Longitudinal Follow-up Study of the COPDGene Cohort.

    Adviento, Brigid A / Regan, Elizabeth A / Make, Barry J / Han, MeiLan K / Foreman, Marilyn G / Iyer, Anand S / Bhatt, Surya P / Kim, Victor / Bon, Jessica / Soler, Xavier / Kinney, Gregory L / Hanania, Nicola A / Lowe, Katherine E / Holm, Kristen E / Yohannes, Abebaw M / Shinozaki, Gen / Hoth, Karin F / Fiedorowicz, Jess G

    Chest

    2022  Volume 163, Issue 2, Page(s) 292–302

    Abstract: Background: Studies have shown that COPD and smoking are associated with increased suicide risk. To date, there are no prospective studies examining suicide risk among individuals with smoking exposure along a spectrum of pulmonary diseases ranging from ...

    Abstract Background: Studies have shown that COPD and smoking are associated with increased suicide risk. To date, there are no prospective studies examining suicide risk among individuals with smoking exposure along a spectrum of pulmonary diseases ranging from normal spirometry to severe COPD.
    Research question: Which clinical variables predict death by suicide or overdose of indeterminate intent in a large cohort of individuals with smoking exposure within the Genetic Epidemiology of COPD (COPDGene) study?
    Study design and methods: We studied data from 9,930 participants involved in COPDGene, a multisite, prospective cohort study of individuals with smoking exposure. Primary cause of adjudicated deaths was identified by using death certificates, family reports, and medical records. Time to death by suicide/overdose was examined as the primary outcome in Cox regression models including age, sex, race, BMI, pack-years, current smoking status, airflow limitation (FEV
    Results: The cohort was 47% female and 33% Black (67% White); they had a mean ± SD age of 59.6 ± 9.0 years and a mean FEV
    Interpretation: In this well-characterized cohort of individuals with smoking exposure with and without COPD, risk factors for suicide/overdose were identified that emphasize the subjective experience of illness over objective assessments of lung function.
    MeSH term(s) Humans ; Female ; Middle Aged ; Aged ; Male ; Follow-Up Studies ; Pulmonary Disease, Chronic Obstructive ; Prospective Studies ; Smoking/adverse effects ; Smoking/epidemiology ; Risk Factors ; Dyspnea ; Biomarkers ; Drug Overdose ; Forced Expiratory Volume
    Chemical Substances Biomarkers
    Language English
    Publishing date 2022-09-24
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1032552-9
    ISSN 1931-3543 ; 0012-3692
    ISSN (online) 1931-3543
    ISSN 0012-3692
    DOI 10.1016/j.chest.2022.09.022
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    In stock of ZB MED Cologne/Königswinter

    Ui III Zs.45: Show issues Location:
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  4. Article ; Online: Genetic Mechanisms Leading to Sex Differences Across Common Diseases and Anthropometric Traits.

    Traglia, Michela / Bseiso, Dina / Gusev, Alexander / Adviento, Brigid / Park, Daniel S / Mefford, Joel A / Zaitlen, Noah / Weiss, Lauren A

    Genetics

    2016  Volume 205, Issue 2, Page(s) 979–992

    Abstract: Common diseases often show sex differences in prevalence, onset, symptomology, treatment, or prognosis. Although studies have been performed to evaluate sex differences at specific SNP associations, this work aims to comprehensively survey a number of ... ...

    Abstract Common diseases often show sex differences in prevalence, onset, symptomology, treatment, or prognosis. Although studies have been performed to evaluate sex differences at specific SNP associations, this work aims to comprehensively survey a number of complex heritable diseases and anthropometric traits. Potential genetically encoded sex differences we investigated include differential genetic liability thresholds or distributions, gene-sex interaction at autosomal loci, major contribution of the X-chromosome, or gene-environment interactions reflected in genes responsive to androgens or estrogens. Finally, we tested the overlap between sex-differential association with anthropometric traits and disease risk. We utilized complementary approaches of assessing GWAS association enrichment and SNP-based heritability estimation to explore explicit sex differences, as well as enrichment in sex-implicated functional categories. We do not find consistent increased genetic load in the lower-prevalence sex, or a disproportionate role for the X-chromosome in disease risk, despite sex-heterogeneity on the X for several traits. We find that all anthropometric traits show less than complete correlation between the genetic contribution to males and females, and find a convincing example of autosome-wide genome-sex interaction in multiple sclerosis (P = 1 × 10
    MeSH term(s) Body Size/genetics ; Chromosomes, Human, X/genetics ; Female ; Genetic Load ; Genetic Predisposition to Disease ; Humans ; Male ; Models, Genetic ; Polymorphism, Single Nucleotide ; Quantitative Trait, Heritable ; Sex Characteristics
    Language English
    Publishing date 2016-12-14
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2167-2
    ISSN 1943-2631 ; 0016-6731
    ISSN (online) 1943-2631
    ISSN 0016-6731
    DOI 10.1534/genetics.116.193623
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    In stock of ZB MED Cologne/Königswinter

    Zs.B 767: Show issues Location:
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  5. Article ; Online: Associations between religion-related factors and breast cancer screening among American Muslims.

    Padela, Aasim I / Murrar, Sohad / Adviento, Brigid / Liao, Chuanhong / Hosseinian, Zahra / Peek, Monica / Curlin, Farr

    Journal of immigrant and minority health

    2014  Volume 17, Issue 3, Page(s) 660–669

    Abstract: American Muslims have low rates of mammography utilization, and research suggests that religious values influence their health-seeking behaviors. We assessed associations between religion-related factors and breast cancer screening in this population. A ... ...

    Abstract American Muslims have low rates of mammography utilization, and research suggests that religious values influence their health-seeking behaviors. We assessed associations between religion-related factors and breast cancer screening in this population. A diverse group of Muslim women were recruited from mosques and Muslim organization sites in Greater Chicago to self-administer a survey incorporating measures of fatalism, religiosity, discrimination, and Islamic modesty. 254 surveys were collected of which 240 met age inclusion criteria (40 years of age or older). Of the 240, 72 respondents were Arab, 71 South Asian, 59 African American, and 38 identified with another ethnicity. 77% of respondents had at least one mammogram in their lifetime, yet 37% had not obtained mammography within the past 2 years. In multivariate models, positive religious coping, and perceived religious discrimination in healthcare were negatively associated with having a mammogram in the past 2 years, while having a PCP was positively associated. Ever having a mammogram was positively associated with increasing age and years of US residency, and knowing someone with breast cancer. Promoting biennial mammography among American Muslims may require addressing ideas about religious coping and combating perceived religious discrimination through tailored interventions.
    MeSH term(s) Adult ; Age Factors ; Aged ; Chicago ; Early Detection of Cancer ; Educational Status ; Female ; Health Behavior/ethnology ; Humans ; Islam ; Mammography/statistics & numerical data ; Middle Aged ; Physicians, Primary Care ; Prejudice
    Language English
    Publishing date 2014-04-03
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2220162-2
    ISSN 1557-1920 ; 1557-1912
    ISSN (online) 1557-1920
    ISSN 1557-1912
    DOI 10.1007/s10903-014-0014-y
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  6. Article ; Online: Autism traits in the RASopathies.

    Adviento, Brigid / Corbin, Iris L / Widjaja, Felicia / Desachy, Guillaume / Enrique, Nicole / Rosser, Tena / Risi, Susan / Marco, Elysa J / Hendren, Robert L / Bearden, Carrie E / Rauen, Katherine A / Weiss, Lauren A

    Journal of medical genetics

    2013  Volume 51, Issue 1, Page(s) 10–20

    Abstract: Background: Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous ... ...

    Abstract Background: Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). Although the literature offers conflicting evidence for association of NF1 and autism, there has been no systematic evaluation of autism traits in the RASopathies as a class to support a role for germline Ras/MAPK activation in ASDs.
    Methods: We examined the association of autism traits with NF1, NS, CS and CFC, comparing affected probands with unaffected sibling controls and subjects with idiopathic ASDs using the qualitative Social Communication Questionnaire (SCQ) and the quantitative Social Responsiveness Scale (SRS).
    Results: Each of the four major RASopathies showed evidence for increased qualitative and quantitative autism traits compared with sibling controls. Further, each RASopathy exhibited a distinct distribution of quantitative social impairment. Levels of social responsiveness show some evidence of correlation between sibling pairs, and autism-like impairment showed a male bias similar to idiopathic ASDs.
    Conclusions: Higher prevalence and severity of autism traits in RASopathies compared to unaffected siblings suggests that dysregulation of Ras/MAPK signalling during development may be implicated in ASD risk. Evidence for sex bias and potential sibling correlation suggests that autism traits in the RASopathies share characteristics with autism traits in the general population and clinical ASD population and can shed light on idiopathic ASDs.
    MeSH term(s) Adolescent ; Adult ; Autistic Disorder/diagnosis ; Autistic Disorder/genetics ; Child ; Costello Syndrome/diagnosis ; Costello Syndrome/genetics ; Diagnosis, Differential ; Ectodermal Dysplasia/diagnosis ; Ectodermal Dysplasia/genetics ; Facies ; Failure to Thrive/diagnosis ; Failure to Thrive/genetics ; Female ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Humans ; Male ; Middle Aged ; Mitogen-Activated Protein Kinases/metabolism ; Mutation ; Neuropsychological Tests ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Patient Outcome Assessment ; Phenotype ; Prevalence ; Quantitative Trait, Heritable ; Sex Factors ; Siblings ; Signal Transduction ; Surveys and Questionnaires ; Young Adult ; ras Proteins/genetics ; ras Proteins/metabolism
    Chemical Substances Mitogen-Activated Protein Kinases (EC 2.7.11.24) ; ras Proteins (EC 3.6.5.2)
    Language English
    Publishing date 2013-10-07
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmedgenet-2013-101951
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 177: Show issues Location:
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