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  1. Article ; Online: Alpha‐thalassemia. Case report alpha‐thalassemia in a Costa Rican family, A case report

    Mariela Solano‐Vargas / David H. K. Chui / Walter Rodriguez‐Romero

    Clinical Case Reports, Vol 9, Iss 1, Pp 291-

    2021  Volume 293

    Abstract: Abstract This case report highlights the importance for health care providers to be aware of the αlpha‐thalassemia syndromes, their relevance to clinical care and family counseling, appropriate diagnostic algorithm for definitive diagnosis. ...

    Abstract Abstract This case report highlights the importance for health care providers to be aware of the αlpha‐thalassemia syndromes, their relevance to clinical care and family counseling, appropriate diagnostic algorithm for definitive diagnosis.
    Keywords ( – – SEA/) deletion ; alpha‐thalassemia ; capillary electrophoresis ; Chinese ethnic ; Gap‐PCR ; Medicine ; R ; Medicine (General) ; R5-920
    Language English
    Publishing date 2021-01-01T00:00:00Z
    Publisher Wiley
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Strategies to improve pharmacogenomic-guided treatment options for patients with β-hemoglobinopathies.

    Patrinos, George P / Chui, David H K / Hardison, Ross C / Steinberg, Martin H

    Expert review of hematology

    2021  Volume 14, Issue 10, Page(s) 883–885

    MeSH term(s) Anemia, Sickle Cell ; Hemoglobinopathies/drug therapy ; Hemoglobinopathies/genetics ; Humans ; Hydroxyurea ; Pharmacogenetics ; beta-Thalassemia/drug therapy ; beta-Thalassemia/genetics
    Chemical Substances Hydroxyurea (X6Q56QN5QC)
    Language English
    Publishing date 2021-09-08
    Publishing country England
    Document type Editorial ; Research Support, N.I.H., Extramural
    ZDB-ID 2516804-6
    ISSN 1747-4094 ; 1747-4086
    ISSN (online) 1747-4094
    ISSN 1747-4086
    DOI 10.1080/17474086.2021.1977117
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6943: Show issues Location:
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  3. Article ; Online: A Novel β

    Atroshi, Sulav D / Al-Allawi, Nasir / Chui, David H K / Najmabadi, Hossein / Khailany, Rozhgar A

    Hemoglobin

    2021  Volume 45, Issue 3, Page(s) 212–214

    Abstract: We report a novel frameshift β-thalassemia (β-thal) mutation due to a two-nucleotide deletion at codon 118 of the β-globin gene ( ...

    Abstract We report a novel frameshift β-thalassemia (β-thal) mutation due to a two-nucleotide deletion at codon 118 of the β-globin gene (
    MeSH term(s) Child, Preschool ; Codon ; Female ; Frameshift Mutation ; Humans ; Iraq ; beta-Globins/genetics ; beta-Thalassemia/diagnosis ; beta-Thalassemia/ethnology ; beta-Thalassemia/genetics
    Chemical Substances Codon ; beta-Globins
    Language English
    Publishing date 2021-06-24
    Publishing country England
    Document type Journal Article
    ZDB-ID 750615-6
    ISSN 1532-432X ; 0363-0269
    ISSN (online) 1532-432X
    ISSN 0363-0269
    DOI 10.1080/03630269.2021.1941082
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    Zs.A 1345: Show issues Location:
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  4. Article: Alpha-thalassemia. Case report alpha-thalassemia in a Costa Rican family, A case report.

    Solano-Vargas, Mariela / Chui, David H K / Rodriguez-Romero, Walter

    Clinical case reports

    2020  Volume 9, Issue 1, Page(s) 291–293

    Abstract: This case report highlights the importance for health care providers to be aware of the αlpha-thalassemia syndromes, their relevance to clinical care and family counseling, appropriate diagnostic algorithm for definitive diagnosis. ...

    Abstract This case report highlights the importance for health care providers to be aware of the αlpha-thalassemia syndromes, their relevance to clinical care and family counseling, appropriate diagnostic algorithm for definitive diagnosis.
    Language English
    Publishing date 2020-11-29
    Publishing country England
    Document type Case Reports
    ZDB-ID 2740234-4
    ISSN 2050-0904
    ISSN 2050-0904
    DOI 10.1002/ccr3.3518
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  5. Article ; Online: Transient neonatal hemolytic anemia due to the novel gamma globin gene mutation HBG2:C.290T>C, p.Leu97Pro (hemoglobin Wareham).

    Gorfinkel, Lev / Wachter, Franziska / Luo, Hong-Yuan / Hansbury, Eileen / Williams, David A / Agarwal, Archana / Chui, David H K / Cantor, Alan B

    Pediatric blood & cancer

    2022  Volume 70, Issue 1, Page(s) e30067

    Abstract: Unstable gamma globin variants can cause transient neonatal hemolytic anemia. We have identified a novel variant in a newborn who presented with jaundice and anemia requiring phototherapy and red blood cell transfusion. The patient was found to be ... ...

    Abstract Unstable gamma globin variants can cause transient neonatal hemolytic anemia. We have identified a novel variant in a newborn who presented with jaundice and anemia requiring phototherapy and red blood cell transfusion. The patient was found to be heterozygous for the mutation HGB2:c.290T>C, p.Leu97Pro, which we have termed hemoglobin (Hb) Wareham. This substitution is expected to generate an unstable hemoglobin with increased oxygen affinity based on the homologous mutation previously described in the beta globin gene, which is termed as Hb Debrousse. The patient fully recovered by 9 months of age as expected with the transition from fetal to adult hemoglobin.
    MeSH term(s) Humans ; Infant, Newborn ; Anemia, Hemolytic/genetics ; beta-Globins/genetics ; gamma-Globins/genetics ; Hemoglobins, Abnormal/genetics ; Heterozygote ; Mutation ; Infant
    Chemical Substances beta-Globins ; gamma-Globins ; Hemoglobins, Abnormal
    Language English
    Publishing date 2022-10-17
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.30067
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    Zs.A 1131: Show issues Location:
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  6. Article ; Online: Clinical phenotypes of three children with sickle cell disease caused by HbS/Sicilian (δβ)

    Aygun, Banu / Bello, Adriana / Thompson, Alexis A / Davis, Lance / Sun, Yanan / Luo, Hong-Yuan / Cui, Shuaiying / Chui, David H K

    American journal of hematology

    2022  Volume 97, Issue 4, Page(s) E156–E158

    MeSH term(s) Anemia, Sickle Cell/complications ; Anemia, Sickle Cell/genetics ; Fetal Hemoglobin/genetics ; Humans ; Phenotype ; Thalassemia/genetics ; beta-Thalassemia/genetics
    Chemical Substances Fetal Hemoglobin (9034-63-3)
    Language English
    Publishing date 2022-01-26
    Publishing country United States
    Document type Case Reports ; Letter
    ZDB-ID 196767-8
    ISSN 1096-8652 ; 0361-8609
    ISSN (online) 1096-8652
    ISSN 0361-8609
    DOI 10.1002/ajh.26470
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    Zs.A 1251: Show issues Location:
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  7. Article: Associations of Systemic Inflammation and Senescent Cell Biomarkers with Clinical Outcomes in Older Adults with Schizophrenia.

    Chui, M K Kirsten / Schneider, Kevin / Miclau, Katherine / LaHue, Sara C / Furman, David / Leutwyler, Heather / Newman, John C

    medRxiv : the preprint server for health sciences

    2024  

    Abstract: Individuals with schizophrenia suffer from higher morbidity and mortality throughout life partly due to acceleration of aging-related diseases and conditions. Systemic inflammation is a hallmark of aging and is also observed in schizophrenia. An improved ...

    Abstract Individuals with schizophrenia suffer from higher morbidity and mortality throughout life partly due to acceleration of aging-related diseases and conditions. Systemic inflammation is a hallmark of aging and is also observed in schizophrenia. An improved understanding of how inflammation and accelerated aging contribute to long-term health outcomes in schizophrenia could provide more effective treatments to preserve long-term cognitive and physical function. In this pilot cross-sectional study, 24 older adults (≥55 years old) with schizophrenia were assessed on symptoms (Positive and Negative Syndrome Scale), neurocognition (Matrics Consensus Cognitive Battery), mobility (Timed Get Up and Go), and general health (SF-12). Serum levels of 112 different cytokines were measured, from which we derived estimated senescence-associated secretory phenotype (SASP) scores for each participant. Two-tailed Pearson's bivariate correlations were computed to test the associations between schizophrenia clinical outcomes with individual cytokines, and SASP. Higher levels of eotaxin, IL-1α, IL-1β, and IFNα are associated with both worse PANSS negative and depressive symptoms scores. IL-1α and IL-1β negatively associated with general physical health whereas eotaxin negatively associated with mobility and global cognition. Overall, we found that specific inflammatory cytokines, but not composite measurements of SASP, are associated with clinical outcomes in older adults with schizophrenia.
    Language English
    Publishing date 2024-03-08
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.03.06.24303857
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: An Unusual Case of Low Hemoglobin Oxygen Saturation.

    Homsy, Elie / Alghothani, Lana / Chui, David H K / Sood, Namita

    Annals of the American Thoracic Society

    2019  Volume 16, Issue 6, Page(s) 756–759

    MeSH term(s) Adult ; Hemoglobinopathies/blood ; Hemoglobinopathies/diagnosis ; Hemoglobins/analysis ; Humans ; Hypoxia/blood ; Hypoxia/diagnosis ; Male ; Oximetry
    Chemical Substances Hemoglobins
    Language English
    Publishing date 2019-05-30
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2717461-X
    ISSN 2325-6621 ; 1943-5665 ; 2325-6621
    ISSN (online) 2325-6621 ; 1943-5665
    ISSN 2325-6621
    DOI 10.1513/AnnalsATS.201811-829CC
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    Zs.A 5828: Show issues Location:
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  9. Article: When Hemoglobin Reported to Be A, S, and F Are Neither A, S, Nor F: A Tale of Two Patients.

    Harris, Neil S / Kavesh, Mark / Beal, Stacy G / Winter, William E / Chui, David H K

    The journal of applied laboratory medicine

    2020  Volume 6, Issue 2, Page(s) 543–549

    MeSH term(s) Hemoglobins, Abnormal/genetics ; Humans
    Chemical Substances Hemoglobins, Abnormal
    Language English
    Publishing date 2020-09-28
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 2576-9456
    ISSN 2576-9456
    DOI 10.1093/jalm/jfaa087
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  10. Article ; Online: Risks of COVID-19-related hospitalisation and mortality among individuals with mental disorders following BNT162b2 and CoronaVac vaccinations: A case-control study.

    Yiu, Hei Hang Edmund / Yan, Vincent K C / Wei, Yue / Ye, Xuxiao / Huang, Caige / Castle, David J / Chui, Celine S L / Lai, Francisco T T / Li, Xue / Wong, Carlos K H / Wan, Eric Y F / Wong, Ian C K / Chan, Esther W

    Psychiatry research

    2023  Volume 329, Page(s) 115515

    Abstract: Concerns have been raised regarding potential weaker vaccine immunogenicity with higher immune suppression for individuals with pre-existing mental disorders. Yet, data on the effectiveness of COVID-19 vaccinations among this vulnerable population are ... ...

    Abstract Concerns have been raised regarding potential weaker vaccine immunogenicity with higher immune suppression for individuals with pre-existing mental disorders. Yet, data on the effectiveness of COVID-19 vaccinations among this vulnerable population are limited. A case-control study was conducted to investigate the risks of COVID-19-related hospitalisation and mortality among individuals with mental disorders following one to three doses of BNT162b2 and CoronaVac vaccinations in Hong Kong. Data were extracted from electronic health records, vaccination and COVID-19 confirmed case records. Conditional logistic regression was applied with adjustment for comorbidities and medication history. Subgroup analyses were performed with stratification: by age (< 65 and ≥ 65) and mental disorders diagnosis (depression, schizophrenia, anxiety disorder, and bipolar disorder). Two doses of BNT162b2 and CoronaVac significantly reduced COVID-19-related hospitalisation and mortality. Further protection for both outcomes was provided after three doses of BNT162b2 and CoronaVac. The vaccine effectiveness magnitude of BNT162b2 was generally higher than CoronaVac, but the difference diminished after the third dose. Individuals with mental disorders should be prioritised in future mass vaccination programmes of booster doses or bivalent COVID-19 vaccines. Targeted strategies should be developed to resolve the reasons behind vaccine hesitancy among this population and increase their awareness on the benefits of vaccination.
    MeSH term(s) Humans ; COVID-19 Vaccines ; BNT162 Vaccine ; COVID-19/prevention & control ; Case-Control Studies ; Mental Disorders ; Vaccination ; Hospitalization
    Chemical Substances sinovac COVID-19 vaccine ; COVID-19 Vaccines ; BNT162 Vaccine
    Language English
    Publishing date 2023-10-04
    Publishing country Ireland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 445361-x
    ISSN 1872-7123 ; 1872-7506 ; 0925-4927 ; 0165-1781
    ISSN (online) 1872-7123 ; 1872-7506
    ISSN 0925-4927 ; 0165-1781
    DOI 10.1016/j.psychres.2023.115515
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