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  1. Article ; Online: An international genomics health workforce education priorities assessment.

    Johnson, Desalyn / Dissanayake, Vajira Hw / Korf, Bruce R / Towery, Meredith / Haspel, Richard L

    Personalized medicine

    2022  Volume 19, Issue 4, Page(s) 299–306

    Abstract: Aim: ...

    Abstract Aim:
    MeSH term(s) Clinical Competence ; Curriculum ; Genomics/education ; Global Health ; Health Workforce ; Humans
    Language English
    Publishing date 2022-06-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 2299146-3
    ISSN 1744-828X ; 1741-0541
    ISSN (online) 1744-828X
    ISSN 1741-0541
    DOI 10.2217/pme-2021-0094
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Health Insurance and Differences in Infant Mortality Rates in the US.

    Johnson, Desalyn L / Carlo, Waldemar A / Rahman, A K M Fazlur / Tindal, Rachel / Trulove, Sarah G / Watt, Mykaela J / Travers, Colm P

    JAMA network open

    2023  Volume 6, Issue 10, Page(s) e2337690

    Abstract: Importance: Health insurance status is associated with differences in access to health care and health outcomes. Therefore, maternal health insurance type may be associated with differences in infant outcomes in the US.: Objective: To determine ... ...

    Abstract Importance: Health insurance status is associated with differences in access to health care and health outcomes. Therefore, maternal health insurance type may be associated with differences in infant outcomes in the US.
    Objective: To determine whether, among infants born in the US, maternal private insurance compared with public Medicaid insurance is associated with a lower infant mortality rate (IMR).
    Design, setting, and participants: This cohort study used data from the Centers for Disease Control and Prevention (CDC) Wide-Ranging Online Data for Epidemiologic Research expanded linked birth and infant death records database from 2017 to 2020. Hospital-born infants from 20 to 42 weeks of gestational age were included if the mother had either private or Medicaid insurance. Infants with congenital anomalies, those without a recorded method of payment, and those without either private insurance or Medicaid were excluded. Data analysis was performed from June 2022 to August 2023.
    Exposures: Private vs Medicaid insurance.
    Main outcomes and measures: The primary outcome was the IMR. Negative-binomial regression adjusted for race, sex, multiple birth, any maternal pregnancy risk factors (as defined by the CDC), education level, and tobacco use was used to determine the difference in IMR between private and Medicaid insurance. The χ2 or Fisher exact test was used to compare differences in categorical variables between groups.
    Results: Of the 13 562 625 infants included (6 631 735 girls [48.9%]), 7 327 339 mothers (54.0%) had private insurance and 6 235 286 (46.0%) were insured by Medicaid. Infants born to mothers with private insurance had a lower IMR compared with infants born to those with Medicaid (2.75 vs 5.30 deaths per 1000 live births; adjusted relative risk [aRR], 0.81; 95% CI, 0.69-0.95; P = .009). Those with private insurance had a significantly lower risk of postneonatal mortality (0.81 vs 2.41 deaths per 1000 births; aRR, 0.57; 95% CI, 0.47-0.68; P < .001), low birth weight (aRR, 0.90; 95% CI, 0.85-0.94; P < .001), vaginal breech delivery (aRR, 0.80; 95% CI, 0.67-0.96; P = .02), and preterm birth (aRR, 0.92; 95% CI, 0.88-0.97; P = .002) and a higher probability of first trimester prenatal care (aRR, 1.24; 95% CI, 1.21-1.27; P < .001) compared with those with Medicaid.
    Conclusions and relevance: In this cohort study, maternal Medicaid insurance was associated with increased risk of infant mortality at the population level in the US. Novel strategies are needed to improve access to care, quality of care, and outcomes among women and infants enrolled in Medicaid.
    MeSH term(s) Infant ; Pregnancy ; United States/epidemiology ; Infant, Newborn ; Humans ; Female ; Cohort Studies ; Premature Birth/epidemiology ; Insurance, Health ; Medicaid ; Infant Mortality
    Language English
    Publishing date 2023-10-02
    Publishing country United States
    Document type Journal Article
    ISSN 2574-3805
    ISSN (online) 2574-3805
    DOI 10.1001/jamanetworkopen.2023.37690
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report.

    Johnson, Desalyn Louise / Abdala Villa, Caterina / Lustig, Matthew C / Robin, Nathaniel H

    American journal of medical genetics. Part A

    2021  Volume 185, Issue 11, Page(s) 3507–3509

    Abstract: Tetrasomy 21 is a rare occurrence. Only 14 cases have been reported in the literature, 8 of which are partial tetrasomy cases and 6 which are complete tetrasomy cases. Of the incidences, no proband with true complete tetrasomy 21 has survived the ... ...

    Abstract Tetrasomy 21 is a rare occurrence. Only 14 cases have been reported in the literature, 8 of which are partial tetrasomy cases and 6 which are complete tetrasomy cases. Of the incidences, no proband with true complete tetrasomy 21 has survived the neonatal period. We report complete mosaic tetrasomy 21 in a female infant with the typical Down syndrome phenotype, including Hirschsprung's disease and atrioventricular (AV) canal defect. This is in contrast to cases of partial tetrasomy 21, which often have an atypical trisomy 21 presentation and multiple nonspecific traits, including short stature, microcephaly, and developmental delays. This case demonstrates the difference in clinical presentation between the partial and complete subtype of tetrasomy 21 and provides the first postnatal clinical picture of an infant with true mosaic complete tetrasomy 21.
    MeSH term(s) Abnormalities, Multiple ; Aneuploidy ; Chromosome Disorders/epidemiology ; Chromosome Disorders/genetics ; Chromosome Disorders/pathology ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Down Syndrome/genetics ; Down Syndrome/pathology ; Female ; Heart Septal Defects/genetics ; Heart Septal Defects/pathology ; Hirschsprung Disease/genetics ; Hirschsprung Disease/pathology ; Humans ; Infant ; Infant, Newborn ; Karyotyping ; Microcephaly/genetics ; Microcephaly/pathology ; Mosaicism ; Phenotype ; Tetrasomy/genetics ; Tetrasomy/pathology
    Language English
    Publishing date 2021-09-02
    Publishing country United States
    Document type Case Reports
    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.62471
    Database MEDical Literature Analysis and Retrieval System OnLINE

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