Hematological Profile in Children With Numerical Chromosomal Disorders
Evaluation of Hematological Profile in Children With Numerical Chromosomal Disorders
研究概览
详细说明
Numerical chromosomal disorders such as Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, and Patau syndrome are associated with various hematological abnormalities. These may include anemia, macrocytosis, thrombocytopenia, leukocyte abnormalities, and increased risk of hematological malignancies, particularly in Down syndrome.
This cross-sectional study will include children aged 28 days to 18 years with confirmed numerical chromosomal disorders. Complete blood count and peripheral blood smear examination will be performed to evaluate the hematological profile and determine the frequency and pattern of abnormalities.
研究类型
注册 (估计的)
联系人和位置
学习联系方式
- 姓名:Dalia a Sayed, Resident
- 电话号码:+20 11 54130609
- 邮箱:Dalia.18331747@med.aun.edu.eg
参与标准
资格标准
适合学习的年龄
- 孩子
- 成人
接受健康志愿者
取样方法
研究人群
描述
Inclusion Criteria:
- - Age from 28 days to 18 years
- Confirmed numerical chromosomal disorder (Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, or Patau syndrome) by karyotype
- Written informed consent from parents or legal guardians
Exclusion Criteria:
- - Age below 28 days
- Patients receiving chemotherapy
- Refusal of parents or legal guardians to participate
学习计划
研究是如何设计的?
设计细节
队列和干预
团体/队列 |
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Single cohort: Children with numerical chromosomal disorders
Children aged 28 days to 18 years with confirmed numerical chromosomal disorders who will undergo complete blood count and peripheral blood smear examination to evaluate their hematological profile.
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研究衡量的是什么?
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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Frequency of hematological abnormalities
大体时间:Baseline
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Proportion of children with numerical chromosomal disorders who have one or more hematological abnormalities (anemia, macrocytosis, thrombocytopenia, leukopenia, leukocytosis, or abnormal peripheral blood smear findings), expressed as percentage.
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Baseline
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次要结果测量
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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Pattern of hematological abnormalities
大体时间:Baseline
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Distribution and pattern of specific hematological abnormalities (anemia, macrocytosis, thrombocytopenia, neutropenia, etc.) among the studied children.
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Baseline
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Hematological profile according to syndrome type
大体时间:Baseline
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Comparison of hematological parameters (hemoglobin, MCV, platelet count, white blood cell count) among different numerical chromosomal disorders (Down syndrome, Turner syndrome, and others).
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Baseline
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Correlation of hematological abnormalities with clinical features
大体时间:Baseline
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Correlation coefficient between the presence of hematological abnormalities and clinical features (recurrent infections, bleeding manifestations, hepatosplenomegaly), using Spearman or Pearson correlation as appropriate.
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Baseline
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合作者和调查者
调查人员
- 学习椅:Mohamed M Hamdy, prof、pediatrics Department, Assiut University Hospitals
出版物和有用的链接
一般刊物
- Bull MJ. Down Syndrome. N Engl J Med. 2020 Jun 11;382(24):2344-2352. doi: 10.1056/NEJMra1706537. No abstract available.
- Costa FF, Foly LS, Coutinho MP. DataGenno: building a new tool to bridge molecular and clinical genetics. Appl Clin Genet. 2011 Mar 18;4:45-54. doi: 10.2147/TACG.S17597. Print 2011.
- Nothen MM, Propping P. Identifying genetic factors in common diseases: more helpful in relation to etiology than prediction. Dtsch Arztebl Int. 2013 May;110(19):329-30. doi: 10.3238/arztebl.2013.0329. No abstract available.
- Gershwin LJ, Netherwood KA, Norris MS, Behrens NE, Shao MX. Equine IgE responses to non-viral vaccine components. Vaccine. 2012 Dec 14;30(52):7615-20. doi: 10.1016/j.vaccine.2012.10.029. Epub 2012 Oct 23.
研究记录日期
研究主要日期
学习开始 (估计的)
初级完成 (估计的)
研究完成 (估计的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (实际的)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
与本研究相关的术语
其他相关的 MeSH 术语
其他研究编号
- Hematology-Chromosomal-Disorde
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