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  1. Article ; Online: Progression of Cardiac Abnormalities in Hutchinson-Gilford Progeria Syndrome: A Prospective Longitudinal Study.

    Olsen, Flemming Javier / Gordon, Leslie B / Smoot, Leslie / Kleinman, Monica E / Gerhard-Herman, Marie / Hegde, Sheila M / Mukundan, Srinivasan / Mahoney, Taylor / Massaro, Joseph / Ha, Sendy / Prakash, Ashwin

    Circulation

    2023  Volume 147, Issue 23, Page(s) 1782–1784

    MeSH term(s) Humans ; Progeria/genetics ; Longitudinal Studies ; Prospective Studies ; Heart Defects, Congenital
    Language English
    Publishing date 2023-06-05
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 80099-5
    ISSN 1524-4539 ; 0009-7322 ; 0069-4193 ; 0065-8499
    ISSN (online) 1524-4539
    ISSN 0009-7322 ; 0069-4193 ; 0065-8499
    DOI 10.1161/CIRCULATIONAHA.123.064370
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  2. Article ; Online: The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B.

    Odinammadu, Kamsi O / Shilagardi, Khurts / Tuminelli, Kelsey / Judge, Daniel P / Gordon, Leslie B / Michaelis, Susan

    Nucleus (Austin, Tex.)

    2023  Volume 14, Issue 1, Page(s) 2288476

    Abstract: Several related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded ... ...

    Abstract Several related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded by
    MeSH term(s) Child ; Humans ; Lamin Type A/genetics ; Lamin Type A/metabolism ; Progeria/drug therapy ; Progeria/genetics ; Progeria/metabolism ; Enzyme Inhibitors/pharmacology ; Mutation ; Lipodystrophy/metabolism ; Fibroblasts/metabolism ; Transferases/genetics ; Transferases/metabolism ; Metalloendopeptidases/genetics ; Metalloendopeptidases/metabolism ; Membrane Proteins/metabolism
    Chemical Substances lonafarnib (IOW153004F) ; Lamin Type A ; Enzyme Inhibitors ; Transferases (EC 2.-) ; Metalloendopeptidases (EC 3.4.24.-) ; ZMPSTE24 protein, human (EC 3.4.24.84) ; Membrane Proteins
    Language English
    Publishing date 2023-12-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2619626-8
    ISSN 1949-1042 ; 1949-1042
    ISSN (online) 1949-1042
    ISSN 1949-1042
    DOI 10.1080/19491034.2023.2288476
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  3. Article ; Online: Abnormal Myocardial Deformation Despite Normal Ejection Fraction in Hutchinson-Gilford Progeria Syndrome.

    Olsen, Flemming J / Biering-Sørensen, Tor / Lunze, Fatima / Hegde, Sheila M / Colan, Steven D / Ehrbar, Rachel / Massaro, Joseph / Ferraro, Alessandra M / Harrild, David M / Kleinman, Monica E / Gordon, Leslie B / Prakash, Ashwin

    Journal of the American Heart Association

    2024  Volume 13, Issue 3, Page(s) e031470

    MeSH term(s) Humans ; Progeria/genetics ; Stroke Volume
    Language English
    Publishing date 2024-01-31
    Publishing country England
    Document type Journal Article
    ZDB-ID 2653953-6
    ISSN 2047-9980 ; 2047-9980
    ISSN (online) 2047-9980
    ISSN 2047-9980
    DOI 10.1161/JAHA.123.031470
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  4. Article ; Online: Storylines of family medicine III: core principles-primary care, systems and family.

    Ventres, William B / Stone, Leslie A / Joslin, Timothy A / Saultz, John W / Aldulaimi, Sommer / Gordon, Paul R / Lane, John C / Lee, Eric R / Prunuske, Jacob / Gildenblatt, Limor / Friedman, Michael H / Fogarty, Colleen T / McDaniel, Susan H / Rohrberg, Tessa / Odom, Amy

    Family medicine and community health

    2024  Volume 12, Issue Suppl 3

    Abstract: Storylines of Family ... ...

    Abstract Storylines of Family Medicine
    MeSH term(s) Humans ; Family Practice ; Physicians, Family ; Family ; Family Health ; Patient-Centered Care
    Language English
    Publishing date 2024-04-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 2986753-8
    ISSN 2009-8774 ; 2305-6983
    ISSN (online) 2009-8774
    ISSN 2305-6983
    DOI 10.1136/fmch-2024-002790
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  5. Article ; Online: Base editor treats progeria in mice.

    Koblan, Luke W / Erdos, Michael R / Gordon, Leslie B / Collins, Francis S / Brown, Jonathan D / Liu, David R

    Nature

    2021  

    Language English
    Publishing date 2021-06-18
    Publishing country England
    Document type News
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/d41586-021-01114-8
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  6. Article ; Online: Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.

    Wang, Jingjing / Yu, Qinmei / Tang, Xiaoxiao / Gordon, Leslie B / Chen, Junyi / Jiang, Buchun / Huang, Guoping / Fu, Haidong / Qian, Jianqin / Liu, Zhihong / Mao, Jianhua

    Pediatric research

    2024  Volume 95, Issue 5, Page(s) 1356–1362

    Abstract: Background: Hutchinson-Gilford progeria syndrome (HGPS) and progeroid laminopathies (PL) are extremely rare genetic diseases with extremely poor prognoses. This study aims to investigate the epidemiological and genotypic characteristics of patients with ...

    Abstract Background: Hutchinson-Gilford progeria syndrome (HGPS) and progeroid laminopathies (PL) are extremely rare genetic diseases with extremely poor prognoses. This study aims to investigate the epidemiological and genotypic characteristics of patients with HGPS/PL in China.
    Methods: Using a cross-sectional study design, general characteristics and genotypic data of 46 patients with HGPS/PL from 17 provinces in China were analyzed.
    Results: Among the 46 patients with HGPS/PL, 20 patients are HGPS, and the rest are PL; the identified total prevalence of HGPS/PL is 1/23 million. Among 42 patients with gene reports, 3 carried compound heterozygous mutations in the ZMPSTE24 while the other 39 carried LMNA mutations. Among PL, LMNA c.1579 C > T homozygous mutation was the most common. The onset of classic genotype HGPS is skin sclerosis in the first month after birth. The primary clinical manifestations of PL patients include skin abnormalities, growth retardation, and joint stiffness. The median age of onset for PL was 12 (6,12) months.
    Conclusions: In China, the identified total prevalence of HGPS/PL is 1/23 million. 92.8% of the genetic mutations of HGPS/PL were located in LMNA, and the rest in ZMPSTE24. Most patients of HGPS/PL have skin abnormalities as the earliest manifestation. Compared to PL, the classic genotype HGPS starts earlier.
    Impact statement: Hutchinson-Gilford progeria syndrome (HGPS) and progeroid laminopathies (PL) are extremely rare genetic diseases with extremely poor prognoses. To date, there is a paucity of epidemiological data related to HGPS/PL in China. This study first examined the genotypic, phenotypic, and prevalence characteristics of 40-50% of the cases of HGPS/PL in mainland China through a collaborative international registry effort. In China, the identified total prevalence of HGPS/PL is 1/23 million. 92.8% of the genetic mutations of HGPS/PL are located in LMNA. LMNA c.1579 C > T homozygous mutations are the most common form of gene mutations among the Chinese PL population.
    MeSH term(s) Humans ; Progeria/genetics ; Progeria/epidemiology ; China/epidemiology ; Male ; Female ; Lamin Type A/genetics ; Cross-Sectional Studies ; Mutation ; Child, Preschool ; Infant ; Prevalence ; Child ; Membrane Proteins/genetics ; Metalloendopeptidases/genetics ; Genotype ; Adolescent ; Laminopathies/genetics ; Laminopathies/epidemiology ; Phenotype
    Chemical Substances Lamin Type A ; LMNA protein, human ; Membrane Proteins ; Metalloendopeptidases (EC 3.4.24.-) ; ZMPSTE24 protein, human (EC 3.4.24.84)
    Language English
    Publishing date 2024-01-08
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 4411-8
    ISSN 1530-0447 ; 0031-3998
    ISSN (online) 1530-0447
    ISSN 0031-3998
    DOI 10.1038/s41390-023-02981-9
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  7. Article ; Online: Sociodemographic differences in quality of treatment to Medicaid enrollees receiving buprenorphine.

    Landis, Rachel K / Levin, Jonathan S / Saloner, Brendan / Gordon, Adam J / Dick, Andrew W / Sherry, Tisamarie B / Leslie, Douglas L / Sorbero, Mark / Stein, Bradley D

    Substance abuse

    2022  Volume 43, Issue 1, Page(s) 1057–1071

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Analgesics, Opioid/therapeutic use ; Benzodiazepines/therapeutic use ; Buprenorphine/therapeutic use ; Female ; Humans ; Male ; Medicaid ; Opioid-Related Disorders/drug therapy ; United States
    Chemical Substances Analgesics, Opioid ; Benzodiazepines (12794-10-4) ; Buprenorphine (40D3SCR4GZ)
    Language English
    Publishing date 2022-04-20
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1458030-5
    ISSN 1547-0164 ; 0889-7077
    ISSN (online) 1547-0164
    ISSN 0889-7077
    DOI 10.1080/08897077.2022.2060424
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  8. Article ; Online: Characteristics and Outcomes of Patients in the Emergency Department with Left Ventricular Assist Devices.

    Finch, Alexander S / Mohseni, Michael M / Simon, Leslie V / Finch, Jennifer G / Gordon-Hackshaw, Lemuel E / Klassen, Aaron B / Mullan, Aidan F / Barbara, David W / Sandefur, Benjamin J

    The western journal of emergency medicine

    2024  Volume 24, Issue 6, Page(s) 1018–1024

    Abstract: Introduction: Left ventricular assist devices (LVAD) are increasingly common among patients with heart failure. The unique physiologic characteristics of patients with LVADs present a challenge to emergency clinicians making treatment and disposition ... ...

    Abstract Introduction: Left ventricular assist devices (LVAD) are increasingly common among patients with heart failure. The unique physiologic characteristics of patients with LVADs present a challenge to emergency clinicians making treatment and disposition decisions. Despite the increasing prevalence of LVADs, literature describing emergency department (ED) visits among this population is sparse. We aimed to describe clinical characteristics and outcomes among patients with LVADs seen in two quaternary-care EDs in a five-year period. Secondarily, we sought to evaluate mortality rates and ED return rates for bridge to transplant (BTT) and destination therapy (DT) patients.
    Methods: We conducted a retrospective cohort study of adult patients known to have an LVAD who were evaluated in two quaternary-care EDs from 2013-2017. Data were collected from the electronic health record and summarized with descriptive statistics. We assessed patient outcomes with mixed-effects logistic regression models including a random intercept to account for patients with multiple ED visits.
    Results: During the five-year study period, 290 ED visits among 107 patients met inclusion criteria. The median patient age was 61 years. The reason for LVAD implantation was BTT in 150 encounters (51.7%) and DT in 140 (48.3%). The most common presenting concerns were dyspnea (21.7%), bleeding (18.6%), and chest pain (11.4%). Visits directly related to the LVAD were infrequent (7.9%). Implantable cardioverter-defibrillator discharge was reported in 3.4% of visits. A majority of patients were dismissed home from the ED (53.8%), and 4.5% required intensive care unit admission. Among all patients, 37.9% returned to the ED within 30 days, with similar rates between DT and BTT patients (32.1 vs 43.3%;
    Conclusion: In this multicenter cohort study of ED visits among patients with an LVAD, dyspnea, bleeding, and chest pain were the most common presenting concerns. Visits directly related to the LVAD were uncommon. Approximately half of patients were dismissed home, although return ED visits were common.
    MeSH term(s) Adult ; Humans ; Middle Aged ; Cohort Studies ; Retrospective Studies ; Heart-Assist Devices/adverse effects ; Heart Failure/epidemiology ; Emergency Service, Hospital ; Chest Pain/etiology ; Dyspnea/etiology ; Treatment Outcome
    Language English
    Publishing date 2024-01-02
    Publishing country United States
    Document type Multicenter Study ; Journal Article
    ZDB-ID 2375700-0
    ISSN 1936-9018 ; 1936-9018
    ISSN (online) 1936-9018
    ISSN 1936-9018
    DOI 10.5811/westjem.59733
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  9. Article ; Online: The progeria research foundation 10

    Gordon, Leslie B / Tuminelli, Kelsey / Andrés, Vicente / Campisi, Judith / Kieran, Mark W / Doucette, Lynn / Gordon, Audrey S

    Aging

    2021  Volume 13, Issue 6, Page(s) 9143–9151

    Abstract: Progeria is an ultra-rare (prevalence 1 in 20 million), fatal, pediatric autosomal dominant premature aging disease caused by a mutation in ... ...

    Abstract Progeria is an ultra-rare (prevalence 1 in 20 million), fatal, pediatric autosomal dominant premature aging disease caused by a mutation in the
    MeSH term(s) Disease Progression ; Education ; Humans ; Progeria/drug therapy
    Language English
    Publishing date 2021-03-17
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1945-4589
    ISSN (online) 1945-4589
    DOI 10.18632/aging.202835
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  10. Article ; Online: Racial discrimination and health among two generations of African American couples.

    Barr, Ashley B / Simons, Ronald L / Beach, Steven R H / Simons, Leslie Gordon

    Social science & medicine (1982)

    2022  Volume 296, Page(s) 114768

    Abstract: The current study extends research on the detrimental health implications of racial discrimination by examining how these implications reverberate across romantic relationships. Using two generations of different-gender romantic couples from the Family ... ...

    Abstract The current study extends research on the detrimental health implications of racial discrimination by examining how these implications reverberate across romantic relationships. Using two generations of different-gender romantic couples from the Family and Community Health Study, we examined how racial discrimination experienced by a romantic partner was associated with poor health among Black adults, independent of one's own level of racial discrimination. Results from the actor-partner interdependence model showed that beyond the effects of socioeconomic status, health behavior, relationship satisfaction, and own experiences of racial discrimination, a romantic partner's experiences of discrimination were associated with increased psychological distress for both the middle/older-age generation and the young-adult generation. Further, in the middle/older-age generation, partners' experiences of racial discrimination were associated with increased cardiovascular disease risk, particularly for men. These results reiterate recent findings that researchers may underestimate the impact of racial discrimination on health when we fail to consider linked lives. Further, they indicate that there may be gender and generational differences in the individual and relational implications of racial discrimination on health.
    MeSH term(s) Adult ; African Americans ; Gender Identity ; Health Behavior ; Humans ; Male ; Personal Satisfaction ; Racism ; Sexual Partners/psychology
    Language English
    Publishing date 2022-02-03
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 4766-1
    ISSN 1873-5347 ; 0037-7856 ; 0277-9536
    ISSN (online) 1873-5347
    ISSN 0037-7856 ; 0277-9536
    DOI 10.1016/j.socscimed.2022.114768
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