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  • 1
    Online Resource
    Online Resource
    Prevalence of Gaucher Disease in Patients of Unknown Cause of Splenomegaly and/or Thrombocytopenia in Saudi Arabia
    American Society of Hematology ; 2020
    In:  Blood Vol. 136, No. Supplement 1 ( 2020-11-5), p. 32-33
    Details
    In: Blood, American Society of Hematology, Vol. 136, No. Supplement 1 ( 2020-11-5), p. 32-33
    Abstract: Rationale: Gaucher disease (GD) is the most common amongst the lysosomal storage disorders. Prevalence of GD in Saudi Arabia is not available in published literature and it is expected to be high and remains undiagnosed. In 2004, a Saudi study reported that GD accounts for 6% of all genetic metabolic disorders. While acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder with no clear data about its incidence in Saudi Arabia. Consequently, this study proposes to determine the prevalence of GD and ASMD in outpatient settings in Saudi Arabia by screening patients with unknown causes of splenomegaly and/or thrombocytopenia. These data will change the local practice and increase the awareness towards GD and ASMD in Saudi Arabia. Objectives: To determine the prevalence of GD in high risk group (defined as patients with splenomegaly and/or thrombocytopenia of unknown cause) and describe their characteristics. We also aim to determine the prevalence of ASMD in high risk group. Methods: A multi-center, observational, study will be conducted in 25 specialty care centres across Saudi Arabia, these centres are mainly focusing on pediatric hematology, adult hematology and hemato-pathology. Female or male patients (aged 2-75 years) will deemed eligible if they have clinical, instrumental or laboratory signs of splenomegaly or thrombocytopenia over a period of 12 months without definitive cause. These patients will be tested for acid β-glucosidase and acid sphingomyelinase enzymes activity on dried blood spot (DBS) samples. Patients with hematological malignancies, hemolytic anemia, and/or thalassemia (except sickle cell disease) will be excluded. A total of 400 patients from Saudi Arabia who fulfill the eligibility criteria will be enrolled in the study. All patient data will be collected in a single visit. Each enrolled patient will visit the investigator for a baseline visit. The investigator will contact them later for sharing the investigation blood test results. During the baseline visit, data and blood sample for enzyme tests and genotyping will be collected by the investigator/designated person at the site. Discussion: Arab world represents one of the leading regions in terms of the incidence of congenital and genetic disorders; a growing body of published literature reported a notable trends towards higher incidence of congenital and genetic diseases, compared to other parts of the world(1). High consanguinity rates which reach up to 60% in some regions, high prevalence of haemoglobinopathies and metabolic disorders, relatively high maternal and parental age, and lack of proper genetic screening were reported as contributing factors for this high prevalence of genetic disorders in the Arab world(1-3). In Saudi Arabia, the situation appears to be no different as previous retrospective studies showed a relatively high incidence of genetic diseases such as inborn error of metabolism. The data of the present study will change the local practice and increase the awareness towards GD and ASMD in Saudi Arabia. References: Al-Gazali L, Hamamy H, Al-Arrayad S. Genetic disorders in the Arab world. BMJ [Internet]. 2006 Oct 21 [cited 2019 Jun 29] ;333(7573):831-4. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17053236 Al-Gazali LI, Alwash R, Abdulrazzaq YM. United Arab Emirates: Communities and Community Genetics. Public Health Genomics [Internet]. 2005 [cited 2019 Jun 29] ;8(3):186-96. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16113536 Wahab AA, Bener A, Teebi AS. The incidence patterns of Down syndrome in Qatar. Clin Genet [Internet]. 2006 Mar 30 [cited 2019 Jun 29] ;69(4):360-2. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16630172 Disclosures No relevant conflicts of interest to declare.
    Type of Medium: Online Resource
    ISSN: 0006-4971 , 1528-0020
    URL: Article
    DOI: 10.1182/blood-2020-140563
    RVK:
    XA 33000
    RVK:
    XA 10000
    Language: English
    Publisher: American Society of Hematology
    Publication Date: 2020
    detail.hit.zdb_id: 1468538-3
    detail.hit.zdb_id: 80069-7
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  • 2
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    Management Algorithms for Gaucher Disease Type 1 in Saudi Arabia: A Consensus Result from a National Meeting
    American Society of Hematology ; 2019
    In:  Blood Vol. 134, No. Supplement_1 ( 2019-11-13), p. 4864-4864
    Details
    In: Blood, American Society of Hematology, Vol. 134, No. Supplement_1 ( 2019-11-13), p. 4864-4864
    Abstract: Background and Objectives Management and treatment of Gaucher disease are quite challenging because of its progressive nature and multisystem involvement. Gaucher disease is misdiagnosed or underdiagnosed in Saudi Arabia due to the high practice of consanguinity, especially among tribes. The prevalence is expected to be much higher than reported in the western countries. The diagnosed cases do not reflect the current prevalence in Saudi Arabia. Therefore, the aim of this consensus statement was to provide a comprehensive algorithmic guideline for the diagnosis and treatment of Gaucher disease for healthcare professionals, especially hematologists adapted to the local circumstances and possible diseases that may mimic Gaucher disease presenting clinical picture. Methods Adult and pediatric hematology or oncology experts from different healthcare sectors in Saudi Arabia reviewed the worldwide related peer-reviewed literature before the meeting on February 2nd, 2019 during the 17th Annual Meeting of Saudi Society of Hematology 2019. During this meeting, variable experiences of misdiagnosis patterns in Gaucher disease were discussed. Diagnosis and management algorithms of Gaucher disease were further discussed and adapted to match the situation in Saudi Arabia Results Splenomegaly is a cardinal sign for the diagnosis of Gaucher disease in adults. While the young aged patients with splenomegaly and gammopathies or multiple myeloma should be considered Gaucher disease after exclusion of the malignancies (Figure 1). While in patients with normal spleen and refractory immune thrombocytopenia (ITP) or associated with anemia, bone marrow biopsy is essential to roll out malignancy before going to enzymatic assay. In pediatric patients, splenomegaly and thrombocytopenia are alarming signs to refer the patients to a hematologist (Figure 2). The lack of adequate awareness among physicians and lack of easy diagnostic tests are the most challenging factors for Gaucher disease diagnosis. Hematological malignancies, thalassemia, ITP, and multiple myeloma are the most common differential diagnosis for Gaucher disease (Table 1). Regarding the short and long-term management goals, the authors added the hepatocellular carcinoma as one of the long-term complications of Gaucher disease and recommended MRI to test for bone mineral density.The authors agreed on the platelet count of 〈 150 x 109/L is diagnostic for thrombocytopenia for Saudis. The authors recommend either MRI or DXA over the biomarkers are to ensure proper diagnosis and assessment of bone manifestations (Figure 3). Conclusion The compelling issue with Gaucher disease in Saudi Arabia is the late diagnosis. Therefore, identify the adult and pediatric milestones of clinical presentation and improve the access to enzyme assay and the gene sequencing could solve the issue of late diagnosis in Saudi Arabia. Besides, Gaucher disease registry with a screening program for thrombocytopenic patients with or without splenomegaly can provide an accurate estimation of the disease prevalence. Disclosures Elbagoury: Sanofi-Genzyme: Employment. Hussein:Sanofi-Genzyme: Employment.
    Type of Medium: Online Resource
    ISSN: 0006-4971 , 1528-0020
    URL: Article
    DOI: 10.1182/blood-2019-122822
    RVK:
    XA 33000
    RVK:
    XA 10000
    Language: English
    Publisher: American Society of Hematology
    Publication Date: 2019
    detail.hit.zdb_id: 1468538-3
    detail.hit.zdb_id: 80069-7
    Location Call Number Limitation Availability
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  • 3
    Online Resource
    Online Resource
    Cluster of Differentiation 20 Expression and Rituximab Use Do Not Improve Outcome of Classical Hodgkin Lymphoma Patients
    American Society of Hematology ; 2020
    In:  Blood Vol. 136, No. Supplement 1 ( 2020-11-5), p. 26-27
    Details
    In: Blood, American Society of Hematology, Vol. 136, No. Supplement 1 ( 2020-11-5), p. 26-27
    Abstract: Introduction: Cluster of differentiation 20 (CD20) is expressed in Reed Sternberg (RS) cells of 11-35% of classical Hodgkin lymphoma (cHL) cases with very controversial prognostic significance. Rituximab is not considered part of standard therapy in cHL but has shown promising responses in the relapsed setting. Early metabolic response has emerged as a robust prognostic tool for early and advanced stage cHL. This analysis reports the prognostic significance of CD20 expression and the therapeutic effect of rituximab in 310 previously untreated cHL patients. Methods: After due approval, all newly diagnosed cHL cases were retrospectively identified. CD20 immunehistochemical (IHC) stain was applied to all cases and considered positive when 10% of the RS cells showed expression. Overall survival (OS) and progression free survival (PFS) were computed using Kaplan-Meir method with log ranks test. Multivariate analyses for PFS were computed using Cox regression modeling incorporating variables with a p value ≤ 0.15 from the univariable model in addition to CD20 expression and rituximab use. Results: A: General characteristics Among 310 patients, 171 (55%) were males, the median age was 27 (14-89) years. Stage of disease was advanced (including early unfavorable) in 278 (90%), 214 (70%) had constitutional symptoms and 58 (19%) had bulky disease. The most common subtype was cHL-nodular sclerosis (NS) at 185 (60%). CD20 was positive in 66 (22%) of the cases. Majority of patients received ABVD 234 (76%) and out of the 66 patients with CD20 expression, 27 (41 %) received rituximab with front line chemotherapy. B: Characteristics and outcome based on CD20 expression Stratified by CD20 expression, there was no significant difference in terms of age, gender, stage at presentation, presence of constitutional symptoms or bulky disease between CD20+ and CD20- cases. NS subtype was more common among CD20- cases (p = 0.0001). More patients were able to achieve interim complete metabolic response (CMR) among CD20+ compared to CD20- at 85% vs. 69%, respectively (p = 0.032); this is further detailed in table I. After a median follow up of 51.3 (1.3-213) months, the 3-year PFS was 75.1% for CD20+ and 70% for CD20- (p = 0.36); this is further illustrated in figure I. C: Impact of rituximab therapy on CD20 positive cHL Stratifying CD20+ cases by rituximab therapy, there was no significant difference in terms of age, gender, stage at presentation, presence of constitutional symptoms or bulky disease. First line chemotherapy used was comparable; however more patients received involved field radiotherapy (IFRT) in the no rituximab group (p = 0.05). The addition of rituximab to chemotherapy did not affect the result of interim PET/CT (p = 0.84). Among the CD20+ cases, 27 (41 %) received rituximab with their first line chemotherapy. After a median follow up of 42.6 (1.3-188) months for CD20+ and 55.2 (2.2-213) months for the CD20- group, the 3-year PFS was 75.1% for CD20+ and 70% for CD20-; the 3-year OS was 89.2% for CD20+and 92.8% for CD20- (p = 0.36). After a median follow up of 36 (6.8-116) months for rituximab group and 55.8 (1.3-188) months for the no rituximab group, the 3-year PFS was 72.6% and 67.8% (p = 0.23) while the 3-year OS was 92.6% and 86.6% (p = 0.47)), respectively. This is further illustrated in figure I. On multivariate analysis the presence of constitutional symptoms and interim PET/CT positivity was significantly associated with worse outcome at HR 3.2 (1.14-9.01; p = 0.028) and 4.3 (2.27-8.1; p & lt; 0.0001) respectively. Conclusions: We observed that neither CD20 expression nor nor rituximab use has improved the outcome of cHL patients. The presence of constitutional symptoms and interim PET/CT positivity were associated with worse outcome. A large prospective study is needed to confirm these findings. ptoms and interim PET/CT positivity are associated with worse outcome. A large prospective study is needed to confirm these findings. Figure Disclosures No relevant conflicts of interest to declare.
    Type of Medium: Online Resource
    ISSN: 0006-4971 , 1528-0020
    URL: Article
    DOI: 10.1182/blood-2020-135917
    RVK:
    XA 33000
    RVK:
    XA 10000
    Language: English
    Publisher: American Society of Hematology
    Publication Date: 2020
    detail.hit.zdb_id: 1468538-3
    detail.hit.zdb_id: 80069-7
    Location Call Number Limitation Availability
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