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  1. Article ; Online: Palliative care and genetics: personalized medicine for the patient and family.

    Bodurtha, Joann N / Smith, Thomas J

    European journal of human genetics : EJHG

    2023  Volume 32, Issue 1, Page(s) 8–9

    MeSH term(s) Humans ; Palliative Care ; Precision Medicine
    Language English
    Publishing date 2023-08-22
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-023-01449-y
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3589: Show issues Location:
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  2. Article ; Online: Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.

    Kannan, Suraj / Bodurtha, Joann N / Hamosh, Ada / Jordan, Christopher

    Molecular genetics & genomic medicine

    2022  Volume 10, Issue 8, Page(s) e1947

    Abstract: Background: Duplication of the distal end of chromosome 15q has been previously implicated in a characteristic overgrowth syndrome. Additionally, many patients have other congenital malformations, including cardiac, renal, genital, and musculoskeletal ... ...

    Abstract Background: Duplication of the distal end of chromosome 15q has been previously implicated in a characteristic overgrowth syndrome. Additionally, many patients have other congenital malformations, including cardiac, renal, genital, and musculoskeletal anomalies. However, some patients may present with intrauterine growth restriction and short stature. Different breakpoints within 15q, as well as different environmental factors, may underlie these varied presentations.
    Case presentation: We discuss monochorionic-diamniotic twins with a ~345 kb maternally inherited duplication in 15q26.3. The twins presented with discordant pathology-one twin with a single umbilical artery, selective intrauterine growth restriction, and multiple cardiac defects including aortic coarctation, aortic valve stenosis, and ventricular septal defect, whereas the other twin was unaffected. To our knowledge, this case represents the smallest reported duplication of distal 15q.
    Conclusion: The discordant phenotype seen in the twins is likely due to a complex interplay between genetic and environmental causes. The affected infant presented prenatally with growth restriction and a single umbilical artery rather than overgrowth, potentially due to a unique breakpoint within 15q. This, in turn, may have produced hemodynamic perturbations between the twins, leading to discordant cardiac disease. Our report thus highlights the importance of genetic and nongenetic mechanisms underlying discordant anomalies in monochorionic twins.
    MeSH term(s) Female ; Fetal Growth Retardation/genetics ; Heart Defects, Congenital/genetics ; Humans ; Single Umbilical Artery ; Twins, Monozygotic/genetics
    Language English
    Publishing date 2022-07-06
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.1947
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  3. Article ; Online: The 2019 medical genetics workforce: A focus on laboratory geneticists.

    Maiese, Deborah R / Lyon, Megan / Reddi, Honey V / Blitzer, Miriam G / Bodurtha, Joann N / Muenke, Maximilian

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

    2023  Volume 25, Issue 6, Page(s) 100834

    Abstract: Purpose: The aim of this report is to inform the genetics and genomics field about the results of a 2019 workforce survey of US laboratory geneticists.: Methods: The American Board of Medical Genetics and Genomics distributed an electronic survey to ... ...

    Abstract Purpose: The aim of this report is to inform the genetics and genomics field about the results of a 2019 workforce survey of US laboratory geneticists.
    Methods: The American Board of Medical Genetics and Genomics distributed an electronic survey to board-certified/eligible diplomates in 2019. Analysis of the responses was performed by the American College of Medical Genetics and Genomics.
    Results: A total of 422 individuals identified as laboratory geneticists. The respondents represent the range of possible certifications. Nearly one-third were Clinical Cytogenetics and Genomics diplomates, another third were Molecular Genetics and Genomics diplomates, and the others were Clinical Biochemical Genetics diplomates or held a combination of certificates. The majority of laboratory geneticists are PhDs. The others were physicians or other degree combinations. Most laboratory geneticists work in academic medical centers or commercial laboratories. Most respondents identified as females and White. The median age was 53 years. A third of the respondents have been in the profession for 21+ years and plan to reduce hours or retire in the next 5 years.
    Conclusion: The genetics field needs to foster the next generation of laboratory geneticists to meet the increasing complexity and demand for genetic testing.
    MeSH term(s) Female ; Humans ; United States ; Middle Aged ; Genetics, Medical ; Laboratories ; Health Personnel ; Physicians ; Workforce
    Language English
    Publishing date 2023-03-28
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2023.100834
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    Zs.A 5059: Show issues Location:
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  4. Article: Demographic and socioeconomic trends in DNA banking utilization in the USA.

    Prudent, Joshua / Lopez, Esthermarie / Dorshorst, Donna / Cox, Hannah C / Bodurtha, Joann N

    Journal of community genetics

    2021  Volume 12, Issue 4, Page(s) 593–602

    Abstract: Demographic and clinical information from de-identified individuals utilizing a single DNA banking service over a 22-year period was assessed using descriptive statistics. The socioeconomic characteristics of the study population were estimated using a ... ...

    Abstract Demographic and clinical information from de-identified individuals utilizing a single DNA banking service over a 22-year period was assessed using descriptive statistics. The socioeconomic characteristics of the study population were estimated using a zip code-level analysis of US Census data and compared to national US Metrics for 2016. Samples from 4,874 individuals were deposited to a single commercial DNA bank from 1997 to 2019. Samples originated from 31 countries across 6 continents, with the majority of samples originating from the United States (US; 97.37%; n = 4,746). A higher proportion of individuals identifying as females (55.58%; n = 2,709) utilized the service compared to males (41.18%; n = 2,007). The age distribution was bimodal, peaking around 5 years of age and again around 65 years of age. Whole blood was the preferred specimen for submission. Sample deposits peaked in 2015 with 559 annual deposits. Clinical genetic counselors were the most common referral source (41.73%; n = 2,034). Individuals utilizing DNA banking services are estimated to reside in wealthier, more educated and less racially diverse zip codes compared to national metrics. Although direct to consumer DNA banking is being utilized by the general public and clinical genetic counselors in the US, it is not widespread.
    Language English
    Publishing date 2021-06-29
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 2543127-4
    ISSN 1868-6001 ; 1868-310X
    ISSN (online) 1868-6001
    ISSN 1868-310X
    DOI 10.1007/s12687-021-00533-4
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  5. Article ; Online: Vascular aneurysms in Ehlers-Danlos syndrome subtypes: A systematic review.

    Shabani, Mahsima / Abdollahi, Ashkan / Brar, Bobby K / MacCarrick, Gretchen L / Ambale Venkatesh, Bharath / Lima, Joao A C / Bodurtha, Joann N

    Clinical genetics

    2022  Volume 103, Issue 3, Page(s) 261–267

    Abstract: Aneurysmal lesions are commonly seen in Ehlers-Danlos Syndrome (EDS). To better identify the regional and vessel-specific spectrum of aneurysms in different subtypes of EDS, we performed a systematic review. We searched Medline for relevant studies from ... ...

    Abstract Aneurysmal lesions are commonly seen in Ehlers-Danlos Syndrome (EDS). To better identify the regional and vessel-specific spectrum of aneurysms in different subtypes of EDS, we performed a systematic review. We searched Medline for relevant studies from 1963 to April 2022. Studies providing a report of any EDS subtype by genetic diagnosis, histologic analysis, or clinical criteria were included. A total of 448 patients from 220 studies were included. 720 vessel-specific aneurysms were reported: 386 in the abdominopelvic area, 165 in the intracranial region, 98 in the thorax, 2 in the extremities, and 6 in the venous system. In 27 out of the 65 patients with ruptured aneurysms, the ruptured aneurysm was the initial presentation. Multiple aneurysms were present in 163 out of 249 patients who had been systematically evaluated for other locations of aneurysms. The head and neck and abdominopelvic regions are two potential foci for aneurysm formation in patients with EDS. The aneurysm development in EDS is not confined to arteries; the venous system and cardiac septa may also be affected. Many patients develop multiple aneurysms, either at the time of the initial presentation or throughout their lifetime and aneurysm formation or rupture may be the first presentation of EDS.
    MeSH term(s) Humans ; Aneurysm, Ruptured/genetics ; Arteries/pathology ; Ehlers-Danlos Syndrome/complications ; Ehlers-Danlos Syndrome/genetics ; Ehlers-Danlos Syndrome/diagnosis
    Language English
    Publishing date 2022-10-24
    Publishing country Denmark
    Document type Systematic Review ; Journal Article ; Review
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14245
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 413: Show issues Location:
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  6. Article: The Wills Eye Handbook of Ocular Genetics, 1st Edition

    Kim, Alexander Y. / Bodurtha, Joann N.

    Journal of Pediatric Genetics

    2018  Volume 07, Issue 04, Page(s) 191–192

    Language English
    Publishing date 2018-11-02
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ISSN 2146-460X ; 2146-4596
    ISSN (online) 2146-460X
    ISSN 2146-4596
    DOI 10.1055/s-0038-1675573
    Database Thieme publisher's database

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  7. Article: Essential Mednotes—Comprehensive Medical Reference & Review for USMLE II and MCCQE I

    Muriello, Michael / Bodurtha, Joann N.

    Journal of Pediatric Genetics

    2017  Volume 06, Issue 02, Page(s) 128–128

    Language English
    Publishing date 2017-05-02
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ISSN 2146-460X ; 2146-4596
    ISSN (online) 2146-460X
    ISSN 2146-4596
    DOI 10.1055/s-0037-1602766
    Database Thieme publisher's database

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  8. Article: The "good planning panel".

    Smith, Thomas J / Bodurtha, Joann N

    The Hastings Center report

    2013  Volume 43, Issue 4, Page(s) 30–32

    MeSH term(s) Advance Care Planning/organization & administration ; Directive Counseling/organization & administration ; Humans ; Patient Protection and Affordable Care Act ; Terminal Care/organization & administration
    Language English
    Publishing date 2013-07-11
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 194940-8
    ISSN 1552-146X ; 0093-0334
    ISSN (online) 1552-146X
    ISSN 0093-0334
    DOI 10.1002/hast.192
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    Zs.B 1672: Show issues Location:
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  9. Article ; Online: "It's a Little Different for Men"-Sponsorship and Gender in Academic Medicine: a Qualitative Study.

    Levine, Rachel B / Ayyala, Manasa S / Skarupski, Kimberly A / Bodurtha, Joann N / Fernández, Marlis González / Ishii, Lisa E / Fivush, Barbara

    Journal of general internal medicine

    2020  Volume 36, Issue 1, Page(s) 1–8

    Abstract: Background: Women remain underrepresented in top leadership positions in academic medicine. In business settings, a person with power and influence actively supporting the career advancement of a junior person is referred to as a sponsor and sponsorship ...

    Abstract Background: Women remain underrepresented in top leadership positions in academic medicine. In business settings, a person with power and influence actively supporting the career advancement of a junior person is referred to as a sponsor and sponsorship programs have been used to diversify leadership. Little is known about how sponsorship functions in academic medicine.
    Objective: To explore perceptions of sponsorship and its relationship to gender and career advancement in academic medicine.
    Design: Qualitative study using semi-structured, one-on-one interviews with sponsors and protégés.
    Participants: Twelve sponsors (clinical department chairs) and 11 protégés (participants of a school of medicine executive leadership program [N = 23]) at the Johns Hopkins School of Medicine.
    Key results: All sponsors were men and all were professors, six of the 11 protégés were women, and four of the 23 participants were underrepresented minorities in medicine. We identified three themes: (1) people (how and who): women seek out and receive sponsorship differently; (2) process (faster and further): sponsorship provides an extra boost, especially for women; and (3) politics and culture (playing favorites and paying it forward): sponsorship and fairness. Informants acknowledge that sponsorship provides an extra boost for career advancement especially for women. Sponsors and protégés differ in their perceptions of how sponsorship happens. Informants describe gender differences in how sponsorship is experienced and specifically noted that women were less likely to actively seek out sponsorship and be identified as protégés compared to men. Informants describe a tension between sponsorship and core academic values such as transparency, fairness, and merit.
    Conclusion: Sponsorship is perceived to be critical to high-level advancement and is experienced differently by women. Increased understanding of how sponsorship works in academic medicine may empower individual faculty to utilize this professional relationship for career advancement and provide institutions with a strategy to diversify top leadership positions.
    MeSH term(s) Academic Medical Centers ; Career Mobility ; Faculty, Medical ; Female ; Humans ; Leadership ; Male ; Mentors ; Physicians, Women
    Language English
    Publishing date 2020-06-29
    Publishing country United States
    Document type Journal Article
    ZDB-ID 639008-0
    ISSN 1525-1497 ; 0884-8734
    ISSN (online) 1525-1497
    ISSN 0884-8734
    DOI 10.1007/s11606-020-05956-2
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    Zs.A 2205: Show issues Location:
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  10. Article ; Online: A Cost Analysis of Universal versus Targeted Cholesterol Screening in Pediatrics.

    Smith, Anna Jo / Turner, Elizabeth L / Kinra, Sanjay / Bodurtha, Joann N / Chien, Alyna T

    The Journal of pediatrics

    2018  Volume 196, Page(s) 201–207.e2

    Abstract: Objective: To compare the number of children needed to screen to identify a case of childhood dyslipidemia and estimate costs under universal vs targeted screening approaches.: Study design: We constructed a decision-analytic model comparing the ... ...

    Abstract Objective: To compare the number of children needed to screen to identify a case of childhood dyslipidemia and estimate costs under universal vs targeted screening approaches.
    Study design: We constructed a decision-analytic model comparing the health system costs of universal vs targeted screening for hyperlipidemia in US children aged 10 years over a 1-year time horizon. Targeted screening was defined by family history: dyslipidemia in a parent and/or early cardiovascular disease in a first-degree relative. Prevalence of any hyperlipidemia (low-density lipoprotein [LDL] ≥130 mg/dL) and severe hyperlipidemia (LDL ≥190 mg/dL or LDL ≥160 mg/dL with family history) were obtained from published estimates. Costs were estimated from the 2016 Maryland Medicaid fee schedule. We performed sensitivity analyses to evaluate the influence of key variables on the incremental cost per case detected.
    Results: For universal screening, the number needed to screen to identify 1 case was 12 for any hyperlipidemia and 111 for severe hyperlipidemia. For targeted screening, the number needed to screen was 7 for any hyperlipidemia and 49 for severe hyperlipidemia. The incremental cost per case detected for universal compared with targeted screening was $1980 for any hyperlipidemia and $32 170 for severe hyperlipidemia.
    Conclusions: Our model suggests that universal cholesterol screening detects hyperlipidemia at a low cost per case, but may not be the most cost-efficient way to identify children with severe hyperlipidemia who are most likely to benefit from treatment.
    MeSH term(s) Cardiovascular Diseases/diagnosis ; Cardiovascular Diseases/economics ; Child ; Cholesterol/analysis ; Cost-Benefit Analysis ; Decision Making ; Dyslipidemias/diagnosis ; Dyslipidemias/economics ; Female ; Health Care Costs ; Humans ; Hyperlipidemias/diagnosis ; Hyperlipidemias/economics ; Male ; Mass Screening/economics ; Pediatrics/economics ; Prevalence
    Chemical Substances Cholesterol (97C5T2UQ7J)
    Language English
    Publishing date 2018-04-27
    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.2018.01.027
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