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  1. Article ; Online: 50 Years Ago in TheJournalofPediatrics: Advances in the Understanding of Prader-Willi syndrome.

    Stafford, Diane E J / Stevenson, David A

    The Journal of pediatrics

    2022  Volume 247, Page(s) 154

    MeSH term(s) Humans ; Prader-Willi Syndrome/diagnosis
    Language English
    Publishing date 2022-06-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2022.05.054
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Book: Subspecialty clinical training and certification

    Stevenson, David K. / McGuinness, Gail A.

    (Pediatrics ; 133, Suppl. 2)

    2014  

    Author's details David K. Stevenson and Gail A. McGuinness
    Series title Pediatrics ; 133, Suppl. 2
    Collection
    Language English
    Size A3 S., S. S51 - S184
    Publisher American Acad. of Pediatrics
    Publishing place S.l.
    Publishing country United States
    Document type Book
    HBZ-ID HT018295233
    Database Catalogue ZB MED Medicine, Health

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  3. Article ; Online: Concurrent use of opioids and benzodiazepines among nursing home and assisted living residents who receive a pain medication.

    Huskamp, Haiden A / Kim, Jennifer L / Stevenson, David G

    Journal of the American Geriatrics Society

    2022  Volume 70, Issue 6, Page(s) 1868–1870

    MeSH term(s) Analgesics, Opioid/therapeutic use ; Benzodiazepines/therapeutic use ; Humans ; Nursing Homes ; Pain/drug therapy ; Skilled Nursing Facilities
    Chemical Substances Analgesics, Opioid ; Benzodiazepines (12794-10-4)
    Language English
    Publishing date 2022-02-26
    Publishing country United States
    Document type Letter ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 80363-7
    ISSN 1532-5415 ; 0002-8614
    ISSN (online) 1532-5415
    ISSN 0002-8614
    DOI 10.1111/jgs.17709
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Single Versus Multigene Testing for Hereditary Hearing Loss: Use and Costs in a Commercially Insured Cohort.

    Moon, Peter K / Qian, Z Jason / Stevenson, David A / Chang, Kay W

    Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery

    2023  Volume 168, Issue 6, Page(s) 1472–1476

    Abstract: Objective: The objectives of this study were to describe trends in single-gene GJB2/6 (connexin 26/30) and multigene hearing loss panel (HLP) testing for hereditary hearing loss using real-world evidence.: Study design: Retrospective study using ... ...

    Abstract Objective: The objectives of this study were to describe trends in single-gene GJB2/6 (connexin 26/30) and multigene hearing loss panel (HLP) testing for hereditary hearing loss using real-world evidence.
    Study design: Retrospective study using insurance claims data.
    Setting: Optum Data Mart database from 2015 to 2020.
    Methods: Rates of overall and hearing-specific genetic testing and costs to insurers and patients were reported. Linear regression models were used to assess the proportion of single-gene GJB2/6 testing over time. Additional linear regression models were used to assess changes in costs over time.
    Results: From 2015 to 2020, 91,986 children received genetic testing for any indication, of which 601 (0.65%) received hearing-specific tests. The proportion of single-gene GJB2/6 testing remained similar over time (mean difference [MD]: -1.3% per year; 95% confidence interval [CI]: -4.3%, 1.7%), while multigene HLP use increased over time (MD: 4.0% per year; 95% CI: 0.4%, 7.5%). The median charge for single-gene GJB2/6 testing remained constant during the study period (MD: -$34; 95% CI: -$86, $18), while the median charge for multigene HLP decreased during the study period (MD: -$145 per year; 95% CI: -$278, -$12).
    Conclusion: Compared to molecular testing for GJB2/6, HLPs are becoming more common for hereditary hearing loss. The comprehensiveness of HLP and decreasing costs provide justification for its more widespread adoption moving forward.
    MeSH term(s) Child ; Humans ; Retrospective Studies ; Deafness ; Hearing ; Databases, Factual ; Fees and Charges
    Language English
    Publishing date 2023-01-22
    Publishing country England
    Document type Journal Article
    ZDB-ID 392085-9
    ISSN 1097-6817 ; 0161-6439 ; 0194-5998
    ISSN (online) 1097-6817
    ISSN 0161-6439 ; 0194-5998
    DOI 10.1002/ohn.204
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis.

    Ho, Wesley Y / Farrelly, Ellyn / Stevenson, David A

    American journal of medical genetics. Part A

    2022  Volume 188, Issue 9, Page(s) 2584–2589

    Abstract: Neurofibromatosis type 1 (NF1) has historically been diagnosed clinically based on the NIH Consensus Conference diagnostic criteria. The molecular and clinical knowledge of NF1 has subsequently improved, and an international group of experts published ... ...

    Abstract Neurofibromatosis type 1 (NF1) has historically been diagnosed clinically based on the NIH Consensus Conference diagnostic criteria. The molecular and clinical knowledge of NF1 has subsequently improved, and an international group of experts published revised diagnostic criteria in 2021, incorporating new diagnostic criteria such as pathogenic variants in NF1. This study aimed to investigate the impact of these new diagnostic criteria on time to diagnosis (TTD) of NF1. A retrospective chart review of individuals evaluated for a diagnosis of NF1 at the Medical Genetics Clinic at Stanford Children's Health was performed. The TTD was determined by calculating the days between their first visit with a medical geneticist for NF1 and the date they would have received a diagnosis based on the previous NF1 diagnostic criteria and the 2021 updated diagnostic criteria. The revised diagnostic criteria for NF1 decreased TTD. The mean difference in TTD was 113 days shorter for the new criteria (p-value = 1.306x
    MeSH term(s) Cafe-au-Lait Spots/pathology ; Child ; Heterozygote ; Humans ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 1/genetics ; Neurofibromatosis 1/pathology ; Retrospective Studies
    Language English
    Publishing date 2022-07-02
    Publishing country United States
    Document type Journal Article
    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.62890
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Bone health in RASopathies.

    Stevenson, David A / Viscogliosi, Germana / Leoni, Chiara

    American journal of medical genetics. Part C, Seminars in medical genetics

    2022  Volume 190, Issue 4, Page(s) 459–470

    Abstract: The RASopathies are a group of disorders due to pathogenic variants in genes involved in the Ras/MAPK pathway, many of which have overlapping clinical features (e.g., neurofibromatosis type 1, Costello syndrome, cardiofaciocutaneous syndrome and Noonan ... ...

    Abstract The RASopathies are a group of disorders due to pathogenic variants in genes involved in the Ras/MAPK pathway, many of which have overlapping clinical features (e.g., neurofibromatosis type 1, Costello syndrome, cardiofaciocutaneous syndrome and Noonan syndrome) including musculoskeletal manifestations. Osteopenia and osteoporosis are reported in many of the RASopathies suggesting a shared pathogenesis. Even though osteopenia and osteoporosis are often detected and fractures have been reported, the clinical impact of bone mineralization defects on the skeleton of the various syndromes is poorly understood. Further knowledge of the role of the Ras/MAPK pathway on the bone cellular function, and more detailed musculoskeletal phenotyping will be critical in helping to develop therapies to improve bone health in the RASopathies.
    MeSH term(s) Humans ; Bone Density/genetics ; Noonan Syndrome/genetics ; Heart Defects, Congenital/genetics ; Bone Diseases, Metabolic/genetics ; Osteoporosis/genetics
    Language English
    Publishing date 2022-12-02
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.32020
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants.

    Niehaus, Annie D / Rassbach, Caroline E / Stevenson, David A

    American journal of medical genetics. Part A

    2022  Volume 188, Issue 8, Page(s) 2315–2324

    Abstract: While combined pediatrics and medical genetics and genomics residency programs are growing in number and applicants, there are still workforce shortages within the medical genetics field. Medical students would benefit from additional information on the ... ...

    Abstract While combined pediatrics and medical genetics and genomics residency programs are growing in number and applicants, there are still workforce shortages within the medical genetics field. Medical students would benefit from additional information on the training pathways and insight into the application process itself. Program Directors of combined pediatrics and medical genetics and genomics residency programs were surveyed to characterize factors that influence interview selection and rank list decisions, application logistics, recruitment, and training pathways. When evaluating applicants, representatives from both pediatrics and medical genetics are involved in the screening process. Additionally, both groups value prior research experience, but do not have a clear preference for a particular subcategory or domain of research. Most program directors think that all currently-available training pathways can provide optimal training. Further action is needed to provide medical students with the knowledge to make more informed decisions about their career and medical school advisors with objective data to counsel students. There was support among program directors to initiate consideration of creating a pathway for medical students to match directly into a medical genetics and genomics residency.
    MeSH term(s) Child ; Genetics, Medical ; Genomics ; Humans ; Internship and Residency ; Students, Medical ; Surveys and Questionnaires
    Language English
    Publishing date 2022-05-28
    Publishing country United States
    Document type Journal Article
    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.62846
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Psychotropic and pain medication use in nursing homes and assisted living facilities during COVID-19.

    Stevenson, David G / Busch, Alisa B / Zarowitz, Barbara J / Huskamp, Haiden A

    Journal of the American Geriatrics Society

    2022  Volume 70, Issue 5, Page(s) 1345–1348

    MeSH term(s) Aged ; Assisted Living Facilities ; COVID-19 ; Homes for the Aged ; Humans ; Nursing Homes ; Pain/drug therapy ; Psychotropic Drugs/adverse effects
    Chemical Substances Psychotropic Drugs
    Language English
    Publishing date 2022-03-06
    Publishing country United States
    Document type Letter ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 80363-7
    ISSN 1532-5415 ; 0002-8614
    ISSN (online) 1532-5415
    ISSN 0002-8614
    DOI 10.1111/jgs.17739
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Integrating evidence and causal mapping of factors that influence medication decision-making by pregnant women at risk of hypertensive disorder: protocol for a scoping review.

    Lee, Yin Jien / Taft, Anita / Stevenson, David K / Darmstadt, Gary L

    BMJ open

    2024  Volume 14, Issue 2, Page(s) e074775

    Abstract: Introduction: In 2018, the American College of Obstetricians and Gynecologists recommended low-dose aspirin to prevent the onset of pre-eclampsia among women who were at high risk. Factors influencing women's acceptance of this recommendation span ... ...

    Abstract Introduction: In 2018, the American College of Obstetricians and Gynecologists recommended low-dose aspirin to prevent the onset of pre-eclampsia among women who were at high risk. Factors influencing women's acceptance of this recommendation span multiple sectors and levels. Understanding how these factors interact will help stakeholders design effective population-level intervention strategies. Our study aims to identify and map relationships among factors influencing the medication decisions of pregnant women at risk of hypertensive disorders.
    Methods and analysis: Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews (PRISMA-ScR) guidelines will be followed for this review. A research librarian developed a comprehensive search strategy to retrieve published and unpublished English studies after 1 January 1980, involving factors that influence pregnant women's uptake and adherence to medication for gestational hypertensive disorders. This literature includes perceptions, patterns, acceptance, refusal, tendencies, probability and service utilisation. We will search PubMed, Embase, Web of Science and CINAHL. Reference lists of the selected papers will be searched manually to identify more relevant studies. A two-stage independent screening, consisting of title and abstract screening, followed by full-text screening, will be conducted by two independent reviewers to identify eligible articles. Extracted data will be recorded in a customised variable extraction form and input into a Microsoft Access database. The PRISMA-ScR will be used to guide the presentation of the results, which will be presented in a table and causal map to demonstrate the relationships between extracted variables and medication uptake and adherence. A conceptual simulation model will be formulated to validate the logic of the relationships between variables and identify knowledge gaps. Lastly, experts and stakeholders will be invited to critique and comment on the results.
    Ethics and dissemination: This study does not require ethical approval. The full review results will be presented at a relevant conference and submitted to a peer-reviewed scientific journal for publication.
    MeSH term(s) Female ; Pregnancy ; Humans ; Pregnant Women ; Hypertension, Pregnancy-Induced/drug therapy ; Hypertension, Pregnancy-Induced/prevention & control ; Pre-Eclampsia/drug therapy ; Pre-Eclampsia/prevention & control ; Aspirin/therapeutic use ; Causality ; Research Design ; Systematic Reviews as Topic ; Review Literature as Topic
    Chemical Substances Aspirin (R16CO5Y76E)
    Language English
    Publishing date 2024-02-05
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2599832-8
    ISSN 2044-6055 ; 2044-6055
    ISSN (online) 2044-6055
    ISSN 2044-6055
    DOI 10.1136/bmjopen-2023-074775
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting.

    Schildt, Alison / Stevenson, David A / Yu, Linbo / Anguiano, Beatriz / Suarez, Carlos J

    American journal of medical genetics. Part A

    2023  Volume 194, Issue 4, Page(s) e63483

    Abstract: Exome and genome sequencing are clinically available, with many laboratories offering expedited testing (e.g., "rapid" and "ultra-rapid"). With the increase in uptake of expedited testing, there is a need for the development of inpatient protocols for ... ...

    Abstract Exome and genome sequencing are clinically available, with many laboratories offering expedited testing (e.g., "rapid" and "ultra-rapid"). With the increase in uptake of expedited testing, there is a need for the development of inpatient protocols for best practices based on real-life data. A retrospective 2-year review (October 2019-November 2021) of the utilization of rapid exome and genome sequencing for inpatient cases at a tertiary care center using a utilization management tracking database with subsequent chart review was performed. Thirty-three expedited "rapid/priority" exome/genome tests were performed clinically. The average total turnaround time (TAT) was 17.88 days (5-43 days) with an average TAT of 13.97 days (3-41 days) for the performing laboratory. There were 5 positive diagnostic results (15.2%), 3 likely positive diagnostic results (9%), 2 noncontributory results (6%), and 26 nondiagnostic results (69.7%). Real-life data suggest that there is an approximately 3.91-day lag in getting samples to the performing laboratory. Although laboratories may advertise their expected TAT, a number of factors can potentially impact the actual time from test order placement to communication of the results for clinical use. Understanding the points of delay will enable the development of internal protocols and policies to improve time to diagnosis.
    MeSH term(s) Humans ; Genetic Testing/methods ; Exome/genetics ; Retrospective Studies ; Inpatients ; Exome Sequencing
    Language English
    Publishing date 2023-11-28
    Publishing country United States
    Document type Journal Article
    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.63483
    Database MEDical Literature Analysis and Retrieval System OnLINE

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