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  1. Article ; Online: Recontact to return new or updated

    Panchal, Seema / Mahajan, Radhika / Aujla, Navneet / McKay, Paul / Casalino, Selina / Di Gioacchino, Vanessa / Charames, George S / Lefebvre, Maude / Metcalfe, Kelly A / Akbari, Mohammad Reza / McCuaig, Jeanna Marie / Lerner-Ellis, Jordan

    Journal of medical genetics

    2024  Volume 61, Issue 5, Page(s) 477–482

    Abstract: Objective: The purpose of this study was to recontact individuals with clinically actionable test results identified through a retrospective research study and to provide a framework for laboratories to recontact patients.: Methods: Genetic testing ... ...

    Abstract Objective: The purpose of this study was to recontact individuals with clinically actionable test results identified through a retrospective research study and to provide a framework for laboratories to recontact patients.
    Methods: Genetic testing was conducted on 2977 individuals originally referred for
    Results: Novel clinically actionable pathogenic variants were identified in the
    Conclusion: Novel pathogenic variants in
    MeSH term(s) Female ; Humans ; Genetic Predisposition to Disease ; Laboratories ; Laboratories, Clinical ; Retrospective Studies ; Duty to Recontact ; Genetic Testing/methods ; BRCA2 Protein/genetics ; BRCA1 Protein/genetics ; Breast Neoplasms/genetics ; Fanconi Anemia Complementation Group N Protein/genetics
    Chemical Substances BRCA2 Protein ; BRCA1 Protein ; PALB2 protein, human ; Fanconi Anemia Complementation Group N Protein
    Language English
    Publishing date 2024-04-19
    Publishing country England
    Document type Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg-2023-109652
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 177: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article: Usage of Genetic Panels in an Adult Epilepsy Clinic.

    Li, Jimmy / Toffa, Dènahin Hinnoutondji / Lefèbvre, Maude / Tétreault, Martine / Cossette, Patrick / Samarut, Éric / Nguyen, Dang Khoa

    The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

    2022  Volume 50, Issue 3, Page(s) 411–417

    Abstract: Background: There is limited data on the utility, yield, and cost efficiency of genetic testing in adults with epilepsy. We aimed to describe the yield and utility of genetic panels in our adult epilepsy clinic.: Methods: We performed a retrospective, ...

    Abstract Background: There is limited data on the utility, yield, and cost efficiency of genetic testing in adults with epilepsy. We aimed to describe the yield and utility of genetic panels in our adult epilepsy clinic.
    Methods: We performed a retrospective, cross-sectional study of all patients followed by an epileptologist at a Canadian tertiary care centre's epilepsy clinic between January 2016 and August 2021 for whom a genetic panel was ordered. A panel was generally ordered when the etiology was unknown or in the presence of a malformation of cortical development. We determined the yield of panel positivity and of confirmed genetic diagnoses. We also estimated the proportion of these diagnoses that were clinically actionable.
    Results: In total, 164 panels were ordered in 164 patients. Most had refractory epilepsy (80%), and few had comorbid intellectual disability (10%) or a positive family history of epilepsy (11%). The yield of panel positivity was 11%. Panel results were uncertain 49% of the time and negative 40% of the time. Genetic diagnoses were confirmed in 7 (4.3%) patients. These genetic conditions involved the following genes:
    Conclusion: We report a lower diagnostic yield for genetic panels in adults with epilepsy than what has so far been reported. Although the field of the genetics of epilepsy is a fast-moving one and more data is required, our findings suggest that guidelines for genetic testing in adults are warranted.
    MeSH term(s) Humans ; Adult ; Retrospective Studies ; Cross-Sectional Studies ; Canada ; Epilepsy/diagnosis ; Epilepsy/genetics ; Genetic Testing/methods ; Protocadherins
    Chemical Substances PCDH19 protein, human ; Protocadherins
    Language English
    Publishing date 2022-04-28
    Publishing country England
    Document type Journal Article
    ZDB-ID 197622-9
    ISSN 0317-1671
    ISSN 0317-1671
    DOI 10.1017/cjn.2022.49
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1203: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article: Fertility and Pregnancy in Turner Syndrome.

    Bouet, Pierre-Emmanuel / Godbout, Ariane / El Hachem, Hady / Lefebvre, Maude / Bérubé, Lyne / Dionne, Marie-Danielle / Kamga-Ngande, Carole / Lapensée, Louise

    Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC

    2016  Volume 38, Issue 8, Page(s) 712–718

    Abstract: Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the ... ...

    Abstract Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening cardiovascular complications (aortic dissection, severe hypertension). Therefore, it is imperative to conduct a full preconception evaluation and counselling that includes cardiac assessment with Holter blood pressure monitoring, echocardiography, and thoracic MRI. Abnormal findings, such an aortic dilatation, mandate close monitoring throughout the pregnancy and the immediate postpartum period and could possibly contraindicate pregnancy. When in vitro fertilization using donated oocytes is performed in these women, only a single embryo should be transferred. Women with a Turner mosaic karyotype appear to have a lower risk of obstetrical and cardiovascular complications but should nevertheless undergo the full preconception evaluation. In this article, we offer guidelines on the management of women with TS in the preconception period, during pregnancy, and postpartum.
    Language English
    Publishing date 2016
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2171082-X
    ISSN 1701-2163
    ISSN 1701-2163
    DOI 10.1016/j.jogc.2016.02.007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6445: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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