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  1. Article ; Online: A Clinical Case of Probable Sitosterolemia.

    Terasaki, Michishige / Izumi, Mikiko / Yamagishi, Sho-Ichi

    International journal of molecular sciences

    2024  Volume 25, Issue 3

    Abstract: Sitosterolemia is a rare genetic lipid disorder characterized by elevated plant sterols in the serum. A 24-year-old Japanese woman was referred to our hospital due to a high serum low-density lipoprotein cholesterol (LDL-C) level of 332 mg/dL. At first, ... ...

    Abstract Sitosterolemia is a rare genetic lipid disorder characterized by elevated plant sterols in the serum. A 24-year-old Japanese woman was referred to our hospital due to a high serum low-density lipoprotein cholesterol (LDL-C) level of 332 mg/dL. At first, she was suspected to suffer from familial hypercholesterolemia, and thus received lipid-lowering agents. Although her LDL-C level remained high (220 mg/dL) with diet therapy plus 10 mg/day rosuvastatin, it was drastically decreased to 46 mg/dL with the addition of 10 mg/day ezetimibe. Finally, her LDL-C level was well-controlled at about 70 mg/dL with 10 mg/day ezetimibe alone. Furthermore, while her serum sitosterol level was elevated at 10.5 μg/mL during the first visit to our hospital, it decreased to 3.6 μg/mL with the 10 mg/day ezetimibe treatment alone. These observations suggest that she might probably suffer from sitosterolemia. Therefore, targeted gene sequencing analysis was performed using custom panels focusing on the exome regions of 21 lipid-associated genes, including
    MeSH term(s) Humans ; Female ; Young Adult ; Adult ; Proprotein Convertase 9 ; Cholesterol, LDL ; ATP Binding Cassette Transporter, Subfamily G, Member 5/genetics ; Lipid Metabolism, Inborn Errors/diagnosis ; Lipid Metabolism, Inborn Errors/drug therapy ; Lipid Metabolism, Inborn Errors/genetics ; Phytosterols/adverse effects ; Phytosterols/genetics ; Ezetimibe/therapeutic use ; Hyperlipoproteinemia Type II/genetics ; Hypercholesterolemia ; Intestinal Diseases
    Chemical Substances PCSK9 protein, human (EC 3.4.21.-) ; Proprotein Convertase 9 (EC 3.4.21.-) ; Cholesterol, LDL ; ATP Binding Cassette Transporter, Subfamily G, Member 5 ; Phytosterols ; Ezetimibe (EOR26LQQ24)
    Language English
    Publishing date 2024-01-26
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms25031535
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Postpartum questionnaire survey of women who tested negative in a non-invasive prenatal testing: examining negative emotions towards the test.

    Hirose, Tatsuko / Shirato, Nahoko / Izumi, Mikiko / Miyagami, Keiko / Sekizawa, Akihiko

    Journal of human genetics

    2020  Volume 66, Issue 6, Page(s) 579–584

    Abstract: Non-invasive prenatal testing (NIPT) is used worldwide to screen for fetal aneuploidy. Although previous studies on the psychosocial aspects of NIPT have focused on satisfaction regarding the test, we surveyed women who experienced negative emotions ... ...

    Abstract Non-invasive prenatal testing (NIPT) is used worldwide to screen for fetal aneuploidy. Although previous studies on the psychosocial aspects of NIPT have focused on satisfaction regarding the test, we surveyed women who experienced negative emotions after receiving NIPT. From January 2018 to March 2019, we surveyed pregnant women whose NIPT results were negative, one year after the test. Of the 526 respondents, 35 (6.7%) regretted receiving NIPT and blamed themselves for taking it. We assigned this 6.7% of respondents to the negative emotion group. Although, 76.5% of the participants in the negative emotion group reported they would like to take NIPT for their next pregnancy, it was significantly lower as compared to the control group (92%). Furthermore, 31.9% of respondents in the control group reported that they would recommend similar tests to their relatives and friends. Conversely, in the negative emotion group, this proportion was lower at 17.1%. This suggests that guilt over testing may be meaningful. Thus, this study showed that some NIPT examinees regretted taking the test and blamed themselves. Respondents reported experiencing stress, anxiety, and depression even before NIPT affirming that it is important to address pregnant women's psychosocial status during pre-test genetic counseling.
    MeSH term(s) Adult ; Aneuploidy ; Decision Making ; Down Syndrome/diagnosis ; Down Syndrome/genetics ; Down Syndrome/pathology ; Female ; Fetus ; Genetic Counseling ; Genetic Testing/trends ; Humans ; Noninvasive Prenatal Testing ; Postpartum Period/genetics ; Pregnancy ; Prenatal Diagnosis ; Surveys and Questionnaires ; Young Adult
    Language English
    Publishing date 2020-12-03
    Publishing country England
    Document type Journal Article
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-020-00879-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 201: 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: A case of Ewing's sarcoma identified via noninvasive prenatal testing.

    Miyagami, Keiko / Matsuoka, Ryu / Tokunaka, Mayumi / Shirato, Nahoko / Izumi, Mikiko / Hirose, Tatsuko / Sekizawa, Akihiko

    Clinical case reports

    2020  Volume 8, Issue 5, Page(s) 867–871

    Abstract: Although noninvasive prenatal testing is not intended to identify maternal genomic information, it can provide other information that may lead to the incidental discovery of coexisting conditions including maternal malignancy. ...

    Abstract Although noninvasive prenatal testing is not intended to identify maternal genomic information, it can provide other information that may lead to the incidental discovery of coexisting conditions including maternal malignancy.
    Language English
    Publishing date 2020-03-14
    Publishing country England
    Document type Case Reports
    ZDB-ID 2740234-4
    ISSN 2050-0904
    ISSN 2050-0904
    DOI 10.1002/ccr3.2673
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Prenatal Identification of Confined Placental Mosaicism in Pregnant Women with Fetal Growth Restriction.

    Miyagami, Keiko / Shirato, Nahoko / Izumi, Mikiko / Hirose, Tatsuko / Yasui, Osamu / Hamada, Shoko / Matsuoka, Ryu / Suzumori, Nobuhiro / Sekizawa, Akihiko

    Reproductive sciences (Thousand Oaks, Calif.)

    2021  Volume 29, Issue 3, Page(s) 896–903

    Abstract: We examined the influence of confined placental mosaicism (CPM) as a cause of fetal growth restriction (FGR), and whether CPM can be screened using cell-free DNA (cfDNA) analysis of the maternal plasma. We analyzed cfDNA in the maternal plasma of 40 FGR ... ...

    Abstract We examined the influence of confined placental mosaicism (CPM) as a cause of fetal growth restriction (FGR), and whether CPM can be screened using cell-free DNA (cfDNA) analysis of the maternal plasma. We analyzed cfDNA in the maternal plasma of 40 FGR cases with an estimated fetal weight of less than - 2.0 SD using massively parallel sequencing to detect chromosomal aberrations. Fetal and placental genotyping was performed to confirm CPM cases. cfDNA analyses of maternal plasma detected suspected CPM cases with chromosomal aneuploidy or copy number variations in 5 of 40 cases (12.5%). For 4 cases in which the entire placenta consisted of cells with chromosomal abnormalities, fetal growth was severely restricted. CPM can be screened by cfDNA analysis in maternal plasma, accounting for approximately 10% of the causes of moderate or severe FGR, and the higher the proportion of abnormal karyotype cells in the placenta, the more severe the placental dysfunction and FGR.
    MeSH term(s) Adult ; Aneuploidy ; Cell-Free Nucleic Acids/blood ; DNA Copy Number Variations ; Female ; Fetal Growth Retardation/genetics ; Humans ; Karyotyping ; Mosaicism ; Placenta Diseases/genetics ; Pregnancy ; Prenatal Diagnosis
    Chemical Substances Cell-Free Nucleic Acids
    Language English
    Publishing date 2021-10-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2276411-2
    ISSN 1933-7205 ; 1933-7191
    ISSN (online) 1933-7205
    ISSN 1933-7191
    DOI 10.1007/s43032-021-00772-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4113: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  5. Article ; Online: Risk-reducing salpingo-oophorectomy for Japanese women with hereditary breast and ovarian cancer: a single-institution 10-year experience.

    Nagashima, Minoru / Ishikawa, Tetsuya / Asami, Yuka / Hirose, Yusuke / Shimada, Kanae / Miyagami, Satoshi / Mimura, Takashi / Miyamoto, Shingo / Onuki, Mamiko / Morioka, Miki / Izumi, Mikiko / Yoshida, Reiko / Yamochi, Toshiko / Taruno, Kanae / Nakamura, Seigo / Sekizawa, Akihiko / Matsumoto, Koji

    Japanese journal of clinical oncology

    2023  Volume 53, Issue 6, Page(s) 472–479

    Abstract: Background: For women diagnosed with hereditary breast and ovarian cancer, the clinical guidelines recommend risk-reducing salpingo-oophorectomy at age 35-40 years or after completion of childbearing. However, there is limited information regarding the ... ...

    Abstract Background: For women diagnosed with hereditary breast and ovarian cancer, the clinical guidelines recommend risk-reducing salpingo-oophorectomy at age 35-40 years or after completion of childbearing. However, there is limited information regarding the current status of risk-reducing salpingo-oophorectomy in Japan.
    Methods: To clarify factors influencing decision-making for risk-reducing salpingo-oophorectomy among Japanese women diagnosed with hereditary breast and ovarian cancer and their clinical outcomes, we analyzed the medical records of 157 Japanese women with germline BRCA pathogenic variants (BRCA1 n = 85, BRCA2 n = 71 and both n = 1) at our institution during 2011-21. Specimens obtained from risk-reducing salpingo-oophorectomy were histologically examined according to the sectioning and extensively examining the fimbriated end protocol.
    Results: The risk-reducing salpingo-oophorectomy uptake rate was 42.7% (67/157). The median age at risk-reducing salpingo-oophorectomy was 47 years. Older age, married state and parity were significantly associated with risk-reducing salpingo-oophorectomy (P < 0.001, P = 0.002 and P = 0.04, respectively). History of breast cancer or family history of ovarian cancer did not reach statistical significance (P = 0.18 and P = 0.14, respectively). Multivariate analyses revealed that older age (≥45 years) and married state may be independent factors associated with risk-reducing salpingo-oophorectomy. Interestingly, the annual number of risk-reducing salpingo-oophorectomy peaked in 2016-17 and has increased again since 2020. The rate of occult cancers at risk-reducing salpingo-oophorectomy was 4.5% (3/67): ovarian cancer (n = 2) and serous tubal intraepithelial carcinoma (n = 1).
    Conclusion: Age and marital status significantly affected decision-making for risk-reducing salpingo-oophorectomy. This is the first study to suggest possible effects of Angelina Jolie's risk-reducing salpingo-oophorectomy in 2015 and the National Health Insurance introduced for risk-reducing salpingo-oophorectomy in 2020. The presence of occult cancers at risk-reducing salpingo-oophorectomy supports clinical guidelines recommending risk-reducing salpingo-oophorectomy at younger ages.
    MeSH term(s) Female ; Humans ; Middle Aged ; Adult ; Salpingo-oophorectomy ; East Asian People ; Mutation ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/prevention & control ; Ovarian Neoplasms/surgery ; Breast Neoplasms/genetics ; Breast Neoplasms/prevention & control ; Breast Neoplasms/surgery ; Ovariectomy ; Genetic Predisposition to Disease
    Language English
    Publishing date 2023-03-30
    Publishing country England
    Document type Journal Article
    ZDB-ID 190978-2
    ISSN 1465-3621 ; 0368-2811
    ISSN (online) 1465-3621
    ISSN 0368-2811
    DOI 10.1093/jjco/hyad020
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1298: 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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