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  1. Book: Chromosomal instability and aging

    Hisama, Fuki M.

    basic science and clinical implications

    2003  

    Author's details ed. by Fuki M. Hisama
    Keywords Aging, Premature / genetics ; Aging / genetics ; Genetic Diseases, Inborn / genetics
    Language English
    Size XVIII, 579 S. : Ill., graph. Darst.
    Publisher Dekker
    Publishing place New York u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT013794388
    ISBN 0-8247-0856-3 ; 978-0-8247-0856-6
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2003 A 3926 order for loan Magazin

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  2. Article ; Online: The Current State of Genetic Testing Platforms for Inherited Retinal Diseases.

    Mustafi, Debarshi / Hisama, Fuki M / Huey, Jennifer / Chao, Jennifer R

    Ophthalmology. Retina

    2022  Volume 6, Issue 8, Page(s) 702–710

    Abstract: Purpose: To evaluate genetic testing platforms used to aid in the diagnosis of inherited retinal degenerations (IRDs).: Design: Evaluation of diagnostic tests and technologies.: Subjects: Targeted genetic panel testing for IRDs.: Methods: Data ... ...

    Abstract Purpose: To evaluate genetic testing platforms used to aid in the diagnosis of inherited retinal degenerations (IRDs).
    Design: Evaluation of diagnostic tests and technologies.
    Subjects: Targeted genetic panel testing for IRDs.
    Methods: Data collected regarding targeted genetic panel testing for IRDs offered by different laboratories were investigated for the inclusion of coding and noncoding variants in disease genes. Both large IRD panels and smaller, more focused, disease-specific panels were included in the analysis.
    Main outcome measures: Number of disease genes tested as well as the commonality and uniqueness across testing platforms in both coding and noncoding variants of disease.
    Results: Across the 3 IRD panel tests investigated, 409 unique genes are represented, of which 269 genes are tested by all 3 panels. The top 20 genes known to cause over 70% of all IRDs are represented in the 269 common genes tested by all 3 panels. In addition, 138 noncoding variants in 50 unique genes are assayed across the 3 platforms. Focused, disease-specific panels exhibit significant variability across the 5 testing platforms that were studied.
    Conclusions: Ordering genetic testing for IRDs is not straightforward, as evidenced by the multitude of panels available to providers. It is important that there is coverage of both coding and noncoding regions in IRD genes to offer diagnoses in these patients. This paper details the diversity of testing platforms currently available to clinicians and provides a thorough explanation of the genes tested in the different IRD panels. In a time of increased importance of the clinical genetic testing of patients with IRDs, knowledge of the proper test to order is paramount.
    MeSH term(s) Genetic Testing ; Humans ; Mutation ; Retina ; Retinal Degeneration
    Language English
    Publishing date 2022-03-18
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ISSN 2468-6530
    ISSN (online) 2468-6530
    DOI 10.1016/j.oret.2022.03.011
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!

    Martin, George M / Hisama, Fuki M / Oshima, Junko

    The journals of gerontology. Series A, Biological sciences and medical sciences

    2020  Volume 76, Issue 2, Page(s) 253–259

    Abstract: The purpose of this early contribution to the new Fellows Forum of this pioneering journal for what is now called Geroscience is to provide an example of how the author's interest in using the emerging tools of human genetics has led to strong support ... ...

    Abstract The purpose of this early contribution to the new Fellows Forum of this pioneering journal for what is now called Geroscience is to provide an example of how the author's interest in using the emerging tools of human genetics has led to strong support for one of the hallmarks of aging-Genomic Instability. We shall also briefly review our emerging interests in the genetic analysis of what we have called Antigeroid Syndromes. While there has been significant progress in that direction via genetic studies of centenarians, the search for genetic pathways that make individuals unusually resistant or resilient to the ravages of specific geriatric disorders has been comparatively neglected. We refer to these disorders as Unimodal Antigeroid Syndromes. It is our hope that our young colleagues will consider research efforts in that direction.
    MeSH term(s) Aging/genetics ; Alzheimer Disease/genetics ; Cockayne Syndrome/genetics ; Cockayne Syndrome/pathology ; Coronary Artery Disease/genetics ; Diabetes Mellitus/genetics ; Female ; Genetic Research ; Genomic Instability ; Humans ; Male ; Mutation ; Phenotype ; Progeria/genetics ; Progeria/pathology ; Syndrome ; Werner Syndrome/genetics ; Werner Syndrome/pathology
    Language English
    Publishing date 2020-11-18
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1223643-3
    ISSN 1758-535X ; 1079-5006
    ISSN (online) 1758-535X
    ISSN 1079-5006
    DOI 10.1093/gerona/glaa273
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Cardiogenetics: a primer for the clinical cardiologist.

    Otto, Catherine M / Savla, Jainy J / Hisama, Fuki M

    Heart (British Cardiac Society)

    2020  Volume 106, Issue 12, Page(s) 938–947

    MeSH term(s) Cardiologists/education ; Cardiovascular Diseases/diagnosis ; Cardiovascular Diseases/genetics ; Cardiovascular Diseases/physiopathology ; Cardiovascular Diseases/therapy ; Clinical Decision-Making ; Education, Medical ; Genetic Predisposition to Disease ; Genetic Testing ; Genetics/education ; Heredity ; Humans ; Molecular Diagnostic Techniques ; Mutation ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Precision Medicine ; Predictive Value of Tests ; Prognosis ; Risk Factors
    Language English
    Publishing date 2020-04-27
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1303417-0
    ISSN 1468-201X ; 1355-6037
    ISSN (online) 1468-201X
    ISSN 1355-6037
    DOI 10.1136/heartjnl-2019-316241
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Diversity, inclusion and equity in medical genetics: The time is now.

    Quintero-Rivera, Fabiola / Hisama, Fuki M

    American journal of medical genetics. Part A

    2020  Volume 182, Issue 12, Page(s) 2817–2819

    MeSH term(s) Cultural Diversity ; Delivery of Health Care ; Ethnic Groups/genetics ; Gender Equity ; Genetics, Medical ; Humans ; Personnel Selection
    Keywords covid19
    Language English
    Publishing date 2020-10-03
    Publishing country United States
    Document type Editorial ; Research Support, N.I.H., Extramural
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.61899
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  6. Article ; Online: Searching the PDF Haystack: Automated Knowledge Discovery in Scanned EHR Documents.

    Kostrinsky-Thomas, Alexander L / Hisama, Fuki M / Payne, Thomas H

    Applied clinical informatics

    2021  Volume 12, Issue 2, Page(s) 245–250

    Abstract: Background: Clinicians express concern that they may be unaware of important information contained in voluminous scanned and other outside documents contained in electronic health records (EHRs). An example is "unrecognized EHR risk factor information," ...

    Abstract Background: Clinicians express concern that they may be unaware of important information contained in voluminous scanned and other outside documents contained in electronic health records (EHRs). An example is "unrecognized EHR risk factor information," defined as risk factors for heritable cancer that exist within a patient's EHR but are not known by current treating providers. In a related study using manual EHR chart review, we found that half of the women whose EHR contained risk factor information meet criteria for further genetic risk evaluation for heritable forms of breast and ovarian cancer. They were not referred for genetic counseling.
    Objectives: The purpose of this study was to compare the use of automated methods (optical character recognition with natural language processing) versus human review in their ability to identify risk factors for heritable breast and ovarian cancer within EHR scanned documents.
    Methods: We evaluated the accuracy of the chart review by comparing our criterion standard (physician chart review) versus an automated method involving Amazon's Textract service (Amazon.com, Seattle, Washington, United States), a clinical language annotation modeling and processing toolkit (CLAMP) (Center for Computational Biomedicine at The University of Texas Health Science, Houston, Texas, United States), and a custom-written Java application.
    Results: We found that automated methods identified most cancer risk factor information that would otherwise require clinician manual review and therefore is at risk of being missed.
    Conclusion: The use of automated methods for identification of heritable risk factors within EHRs may provide an accurate yet rapid review of patients' past medical histories. These methods could be further strengthened via improved analysis of handwritten notes, tables, and colloquial phrases.
    MeSH term(s) Electronic Health Records ; Female ; Humans ; Knowledge Discovery ; Natural Language Processing ; Risk Factors ; Texas ; United States
    Language English
    Publishing date 2021-03-24
    Publishing country Germany
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1869-0327
    ISSN (online) 1869-0327
    DOI 10.1055/s-0041-1726103
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases.

    Gupta, Pankhuri / Nakamichi, Kenji / Bonnell, Alyssa C / Yanagihara, Ryan / Radulovich, Nick / Hisama, Fuki M / Chao, Jennifer R / Mustafi, Debarshi

    NPJ genomic medicine

    2023  Volume 8, Issue 1, Page(s) 20

    Abstract: Phasing genetic variants is essential in determining those that are potentially disease-causing. In autosomal recessive inherited retinal diseases (IRDs), reclassification of variants of uncertain significance (VUS) can provide a genetic diagnosis in ... ...

    Abstract Phasing genetic variants is essential in determining those that are potentially disease-causing. In autosomal recessive inherited retinal diseases (IRDs), reclassification of variants of uncertain significance (VUS) can provide a genetic diagnosis in indeterminate compound heterozygote cases. We report four cases in which familial co-segregation demonstrated a VUS resided in trans to a known pathogenic variant, which in concert with other supporting criteria, led to the reclassification of the VUS to likely pathogenic, thereby providing a genetic diagnosis in each case. We also demonstrate in a simplex patient without access to family members for co-segregation analysis that targeted long-read sequencing can provide haplotagged variant calling. This can elucidate if variants reside in trans and provide phase of genetic variants from the proband alone without parental testing. This emerging method can alleviate the bottleneck of haplotype analysis in cases where genetic testing of family members is unfeasible to provide a complete genetic diagnosis.
    Language English
    Publishing date 2023-08-10
    Publishing country England
    Document type Journal Article
    ZDB-ID 2813848-X
    ISSN 2056-7944 ; 2056-7944
    ISSN (online) 2056-7944
    ISSN 2056-7944
    DOI 10.1038/s41525-023-00366-9
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  8. Article ; Online: Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.

    Hisama, Fuki M / Pillai, Renuka Kandhaya / Sidorova, Julia / Patterson, Karynne / Gokingco, Carolina / Yacobi-Bach, Michal / Oshima, Junko

    GeroScience

    2023  Volume 46, Issue 2, Page(s) 2771–2775

    Abstract: A progeroid family was found to harbor a pathogenic variant in the CASP5 gene that encodes inflammatory caspase 5. Caspase 5-depleted fibroblasts exhibited hyper-activation of inflammatory cytokines in response to pro-inflammatory stimuli. Long-term ... ...

    Abstract A progeroid family was found to harbor a pathogenic variant in the CASP5 gene that encodes inflammatory caspase 5. Caspase 5-depleted fibroblasts exhibited hyper-activation of inflammatory cytokines in response to pro-inflammatory stimuli. Long-term intermittent hyper-inflammatory response is likely the cause of the accelerated aging phenotype comprised of earlier onset of common aging diseases, supporting inflammaging as a potential common disease mechanism of progeroid syndromes and possibly normative aging.
    MeSH term(s) Humans ; Progeria/genetics ; Phenotype
    Language English
    Publishing date 2023-08-21
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2886586-8
    ISSN 2509-2723 ; 2509-2715
    ISSN (online) 2509-2723
    ISSN 2509-2715
    DOI 10.1007/s11357-023-00907-1
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  9. Article ; Online: Value of a genetics clinic evaluation in identifying women at risk for hereditary breast-ovarian cancer syndrome.

    Hinshaw, Jesse C / Zhao, Lue-Ping / Brimm, John E / Payne, Thomas H / Hisama, Fuki M

    Journal of genetic counseling

    2021  Volume 30, Issue 6, Page(s) 1591–1597

    Abstract: Our work evaluates the contributions of a genetics clinic visit in assessing patients' risk of hereditary cancers and in meeting National Cancer Comprehensive Network (NCCN) criteria for genetic testing. We reviewed the electronic health records (EHR) of ...

    Abstract Our work evaluates the contributions of a genetics clinic visit in assessing patients' risk of hereditary cancers and in meeting National Cancer Comprehensive Network (NCCN) criteria for genetic testing. We reviewed the electronic health records (EHR) of 56 women seen for medical care in our healthcare system who were subsequently seen in the Adult Genetics Clinic. We searched for all personal or family cancer history available in either free-text or structured form within the EHR prior to the genetics visit. For each patient, we then compared the aggregate data with the pedigree information obtained at the Genetics Clinic visit for first-, second-, and third-degree relatives. During the genetics clinic visit, the number of relatives with cancer diagnoses doubled from 121 to 235, and for 17 of 56 (30%) of patients, family histories changed one or more NCCN criteria. For 39/56 (70%) of patients, the family history in the EHR was not changed during the genetics clinic visit. Of 56 women referred to the genetics clinic, 45 (80%) met NCCN guidelines for testing, 40 women underwent genetic testing, and 9 of 40 (23%) tested were positive for a Likely Pathogenic or Pathogenic (LP/P) variant. This study of 56 women quantitatively demonstrates the value of a genetics clinic visit by improved identification of key family history components.
    MeSH term(s) Adult ; Breast Neoplasms/diagnosis ; Breast Neoplasms/genetics ; Carcinoma, Ovarian Epithelial/genetics ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Ovarian Neoplasms/genetics ; Pedigree
    Language English
    Publishing date 2021-04-21
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1117799-8
    ISSN 1573-3599 ; 1059-7700
    ISSN (online) 1573-3599
    ISSN 1059-7700
    DOI 10.1002/jgc4.1425
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  10. Article ; Online: First, do no harm: direct-to-consumer genetic testing.

    Schleit, Jennifer / Naylor, Lorraine V / Hisama, Fuki M

    Genetics in medicine : official journal of the American College of Medical Genetics

    2018  Volume 21, Issue 2, Page(s) 510–511

    MeSH term(s) Direct-To-Consumer Screening and Testing ; Female ; Genes, BRCA2 ; Genetic Testing/economics ; Genetic Testing/ethics ; Humans ; Middle Aged ; Risk Assessment
    Language English
    Publishing date 2018-06-14
    Publishing country United States
    Document type Case Reports ; Letter
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-018-0071-z
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