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  1. Article: Resolved Myositis, Normal Creatine Kinase, and Peaking Cardiac Troponin T.

    Almarzooqi, Farida / Karin, Amir / Mattman, Andre / Easton, Alexander / Lee, Christopher / Gador, Anthony

    The journal of applied laboratory medicine

    2024  

    Language English
    Publishing date 2024-05-07
    Publishing country England
    Document type Journal Article
    ISSN 2576-9456
    ISSN 2576-9456
    DOI 10.1093/jalm/jfae026
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Cellular Respiration in Thymic Fragments from Mice.

    Alshamsi, Mariam / Hassane, Maya / Almarzooqi, Farida / Souid, Abdul-Kader

    Frontiers in bioscience (Landmark edition)

    2022  Volume 27, Issue 8, Page(s) 230

    Abstract: Background: This report aims to detail the use of the phosphorescence oxygen analyzer for : Methods: Thymic fragments from mice were placed in glass vials containing phosphate-buffered saline, bovine albumin, and Pd(II) meso-tetra (sulfophenyl) ... ...

    Abstract Background: This report aims to detail the use of the phosphorescence oxygen analyzer for
    Methods: Thymic fragments from mice were placed in glass vials containing phosphate-buffered saline, bovine albumin, and Pd(II) meso-tetra (sulfophenyl) tetrabenzoporphyrin. The vials were sealed from air, and the cellular oxygen consumption was monitored as function of time.
    Results: The decline of dissolved oxygen concentration with time (d[O2]/d
    Conclusions: Thymocyte respiration can serve as a surrogate biomarker for studying the mode-of-action and the cytotoxicity of immunotoxins and immunosuppressants.
    MeSH term(s) Animals ; Cattle ; Cell Respiration ; Immunosuppressive Agents/pharmacology ; Mice ; Oxygen ; Oxygen Consumption/physiology ; Sirolimus/pharmacology
    Chemical Substances Immunosuppressive Agents ; Oxygen (S88TT14065) ; Sirolimus (W36ZG6FT64)
    Language English
    Publishing date 2022-08-30
    Publishing country Singapore
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2704569-9
    ISSN 2768-6698 ; 2768-6698
    ISSN (online) 2768-6698
    ISSN 2768-6698
    DOI 10.31083/j.fbl2708230
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Novel genetic variants of inborn errors of immunity.

    Almarzooqi, Farida / Souid, Abdul-Kader / Vijayan, Ranjit / Al-Hammadi, Suleiman

    PloS one

    2021  Volume 16, Issue 1, Page(s) e0245888

    Abstract: Objectives: Inborn errors of immunity (IEI) are prevalent in tribal cultures due to frequent consanguineous marriages. Many of these disorders are autosomal recessive, resulting from founder mutations; hence they are amenable to prevention. The primary ... ...

    Abstract Objectives: Inborn errors of immunity (IEI) are prevalent in tribal cultures due to frequent consanguineous marriages. Many of these disorders are autosomal recessive, resulting from founder mutations; hence they are amenable to prevention. The primary objective of this study was to evaluate the pathogenicity of novel variants of IEI found among Emiratis.
    Methods: This retrospective data collection study reports novel variants of IEI detected by diagnostic exome sequencing. Pathogenicity prediction was based on scoring tools, amino acid alignment, and Jensen-Shannon divergence values.
    Results: Twenty-one novel variants were identified; nine were frameshift, three nonsense, four intronic (one pathogenic), and five missense (two pathogenic). Fifteen variants were likely pathogenic, of which 13 were autosomal recessive and two uncertain inheritance. Their clinical spectra included combined immunodeficiency, antibody deficiency, immune dysregulation, defects in intrinsic/innate immunity, and bone marrow failure.
    Conclusion: The described novel pathogenic variants are core to a planned national screening program that aims toward IEI prevention. Future studies, however, are needed to confirm their natural history in individual patients and estimate their prevalence in the community.
    MeSH term(s) Animals ; Bone Marrow Failure Disorders/genetics ; Computational Biology ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/immunology ; Genetic Variation ; Herpesvirus 4, Human/physiology ; Humans ; Immunity, Innate/genetics ; Lymphohistiocytosis, Hemophagocytic/genetics ; Retrospective Studies
    Language English
    Publishing date 2021-01-22
    Publishing country United States
    Document type Journal Article
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0245888
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  4. Article ; Online: Macrocytosis in Mitochondrial DNA Deletion Syndromes.

    Almarzooqi, Farida / Vallance, Hilary / Mezei, Michelle / Lehman, Anna / Horvath, Gabriella / Rakic, Bojana / Zypchen, Leslie / Mattman, Andre

    Acta haematologica

    2023  Volume 146, Issue 3, Page(s) 220–225

    Abstract: Large single mitochondrial DNA (mtDNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive external ophthalmoplegia (CPEO) is the most common ... ...

    Abstract Large single mitochondrial DNA (mtDNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive external ophthalmoplegia (CPEO) is the most common phenotype in adults with this form of mitochondrial disease [J Intern Med. 2020;287(6):592-608 and Biomed Rep. 2016;4(3):259-62]. The common CPEO clinical manifestations are ptosis and ophthalmoplegia. More variable phenotypic manifestations of CPEO (CPEO plus) include involvement of the peripheral nervous system and myopathy. Here, we describe a 62-year-old female with CPEO and the major mtDNA deletion present at 40% heteroplasmy, who had a coexistent previously undescribed CPEO phenotypic feature of persistent unexplained macrocytosis without anemia. Building on this case, we reviewed other major mtDNA deletion cases seen in our Adult Metabolic Diseases Clinic (AMDC) at the University of British Columbia, Vancouver, Canada, from 2016 to 2022. The major mtDNA deletion cases (n = 26) were compared with mtDNA missense variants identified in the clinic over the same period who acted as the comparison group (n = 16). Of these, the most frequent diagnosis was maternally inherited diabetes and deafness and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. Ten out of 26 (38%) of mtDNA deletion patients had macrocytosis with elevated mean corpuscular volume (MCV), median (interquartile range) of 108 fL (102-114 fL). Seven of the patients with macrocytosis had no pertinent etiology. None of the comparison group had macrocytosis. There was a significant difference (p = 0.000) between the MCV and MCH in the mtDNA deletion group compared to the comparison group. This communication sheds light on the association of macrocytosis with the mtDNA deletion syndrome. It would be of great interest to determine if the association is found in other mitochondrial disease clinic populations.
    MeSH term(s) Female ; Humans ; Ophthalmoplegia, Chronic Progressive External/genetics ; Ophthalmoplegia/diagnosis ; Ophthalmoplegia/genetics ; DNA, Mitochondrial/genetics ; Anemia
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2023-02-10
    Publishing country Switzerland
    Document type Case Reports ; Review ; News
    ZDB-ID 80008-9
    ISSN 1421-9662 ; 0001-5792
    ISSN (online) 1421-9662
    ISSN 0001-5792
    DOI 10.1159/000529311
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Ud II Zs.145: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)

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  5. Article ; Online: Drug desensitization during pregnancy: Improving patient safety through multidisciplinary collaborative approach.

    Banjar, Shorooq / Kwok, Michelle / AlKhammash, Salma / Almasri, Walaa / Polito, Vanessa / Almarzooqi, Farida / Lee, Derek / Tardio, Natacha / Khoudja, Rabea / Genest, Genevieve

    The journal of allergy and clinical immunology. In practice

    2022  Volume 11, Issue 2, Page(s) 647–649.e2

    MeSH term(s) Pregnancy ; Female ; Humans ; Patient Safety ; Desensitization, Immunologic ; Drug Hypersensitivity/therapy
    Language English
    Publishing date 2022-12-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2843237-X
    ISSN 2213-2201 ; 2213-2198
    ISSN (online) 2213-2201
    ISSN 2213-2198
    DOI 10.1016/j.jaip.2022.11.014
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    Zs.A 7086: Show issues Location:
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  6. Article ; Online: Prospective cross-sectional study of tuberculosis screening in United Arab Emirates.

    Almarzooqi, Farida / Alkhemeiri, Aysha / Aljaberi, Ahmed / Hashmey, Rayhan / Zoubeidi, Taoufik / Souid, Abdul-Kader

    International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

    2018  Volume 70, Page(s) 81–85

    Abstract: Objectives: Intense migrations from tuberculosis endemic areas to Gulf countries create special risks for people in the region. The purpose of this study was to provide data that could justify implementing universal, regular TB screening in UAE.: ... ...

    Abstract Objectives: Intense migrations from tuberculosis endemic areas to Gulf countries create special risks for people in the region. The purpose of this study was to provide data that could justify implementing universal, regular TB screening in UAE.
    Design: This prospective, cross-sectional study used interferon-γ release assay (IGRA) to screen for TB among Emirati citizens between August-2016 and May-2017; expatriates were not included in this study. Participants were recruited from Emiratis attending Tawam Hospital Polyclinics for problems unrelated to TB risk assessment. IGRA was requested for all enrolled participants. A risk-assessment questionnaire was completed by all participants. In addition, a retrospective review of IGRA results (January-2011 to April-2016) was conducted to compare prevalence of positive IGRA in the 'prospective sample' with that in 'patients screened in the past'.
    Results: Four hundred fifty-five participants (69% females) were enrolled in this study. Participants' age (mean±SD) was 42±16y. The majority of participants had traveled to or had helpers from TB-endemic areas. Two hundred forty (53%) participants had IGRA test. Forty-five (18.8%) participants had positive IGRA, similar to the retrospective results of 12.4% to 23.5%.
    Conclusions: The prevalence of positive-IGRA in this study is high.
    MeSH term(s) Adolescent ; Adult ; Aged ; Cross-Sectional Studies ; Female ; Humans ; Interferon-gamma Release Tests/methods ; Male ; Middle Aged ; Prospective Studies ; Risk Assessment ; Tuberculosis/diagnosis ; United Arab Emirates/epidemiology ; Young Adult
    Language English
    Publishing date 2018-03-09
    Publishing country Canada
    Document type Journal Article
    ZDB-ID 1331197-9
    ISSN 1878-3511 ; 1201-9712
    ISSN (online) 1878-3511
    ISSN 1201-9712
    DOI 10.1016/j.ijid.2018.03.001
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    Zs.A 4516: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  7. Article: Adverse Events of the BCG (Bacillus Calmette-Guérin) and Rotavirus Vaccines in a Young Infant with Inborn Error of Immunity.

    Al-Hammadi, Suleiman / Alkuwaiti, Najla S / Ghatasheh, Ghassan A / Al Dhanhani, Huda / Shendi, Hiba M / Elomami, Abdulghani S / Almarzooqi, Farida / Souid, Abdul-Kader

    Case reports in immunology

    2020  Volume 2020, Page(s) 8857152

    Abstract: Background: The Bacillus Calmette-Guérin (BCG) and rotavirus vaccines are live-attenuated preparations. In the United Arab Emirates, these products are universally administered to the young infants. This unguided practice does not account for the ... ...

    Abstract Background: The Bacillus Calmette-Guérin (BCG) and rotavirus vaccines are live-attenuated preparations. In the United Arab Emirates, these products are universally administered to the young infants. This unguided practice does not account for the children with immunodeficiency, which frequently manifests after the administration of these vaccines. We present here a young infant with immunodeficiency that developed disseminated tuberculosis infection and severe diarrhea due to these improper immunizations.
    Conclusions: These unfortunate events could have been avoided by compiling the available clinical information. This patient underscores the importance of implementing proper policies for BCG and rotavirus vaccinations. International registries of adverse events of universally administered vaccines are crucial.
    Language English
    Publishing date 2020-11-28
    Publishing country Egypt
    Document type Case Reports
    ZDB-ID 2695564-7
    ISSN 2090-6617 ; 2090-6609
    ISSN (online) 2090-6617
    ISSN 2090-6609
    DOI 10.1155/2020/8857152
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