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  • Urinalysis

    Urinalysis is one of the most common methods in medical diagnosis. It includes an array of tests performed with urine, such as the concentration of ions, trace metals, protein and other molecules. In principle, the test result of test strips can be read as color changes. With automated urine analyzer, artifacts of data judgment can be further avoided. Here is a brief demonstration of regular urine test using urine test strip in concert with automated analyzer.

    Publish: 2014/6/24

  • Williams-Beuren Syndrome

    First described in 1961 by J. C. p. Williams, a cardiologist in Auckland, Williams-Beuren syndrome (WBS; MIM 194050) is a rare developmental disorder with an occurrence of 1/20000-1/50000 live births. One of the characteristic feature of Williams-Beuren syndrome is overfriendliness with social-loving characteristics. Here we present a brief introduction to the common knowledge of Williams-Beuren syndrome.

    Publish: 2014/12/23

  • Hematology Test

    As a mature diagnostic tool, regular blood test is widely adopted to evaluate anemia, leukemia, reaction to inflammation and infections, etc. With automated hematology analyzer, the test result of CBC with DIFF (Complete Blood Count with Differential) can easily be obtained. The test collects information including the number and types of different types of blood cells, the variation in the size of red blood cells, hematocrit, hemoglobin value, platelet count, mean corpuscular hemoglobin, and the average size of red blood cells. Here we demonstrate a simple operation of hematology test for following clinical diagnosis.

    Publish: 2014/6/17

  • Wolf-Hirschhorn Syndrome

    Resulted from the micro-deletion of the Wolf-Hirschhorn syndrome critical region (WHSC1 and WHSC2) located on the short arm of chromosome 4 (4p16.3), Wolf-Hirschhorn syndrome is a rare congenital disorder with estimated frequency of 1:50000 births. Here we present a brief introduction to the common knowledge of Wolf-Hirschhorn syndromee.

    Publish: 2014/12/30

  • Warsaw Breakage Syndrome

    Cohesinopathies are human developmental disorders caused by inherited defects in cellular components controlling the process of sister chromatid cohesion. This cohesion mechanism takes care of keeping the sister chromatids close together from the stage of DNA replication up until mitosis. Two syndromes were described so far in the group of cohesinopathes: Roberts syndrome and Cornelia de Lange syndrome. In Van der Lelij research, a third cohesinopathy is added to this group: The Warsaw Breakage syndrome, caused by mutations in DDX11/ChlR1.

    Publish: 2010/8/31

  • Prenatal Tests for Genetic Disorders

    To identify birth defects such as Down syndrome, chromosome abnormalities, and other genetic diseases, prenatal test is now widely accepted as a routine for pregnant women. Common tests including amniocentesis, ultrasonography, etc. can be basically divided into invasive or non-invasive methods according to the way of their appliance. An invasive method involves probes or needles being inserted into the uterus, and , on the contrary, non-invasive techniques adopt ultrasonography and maternal serum screens to gain the information of the fetus. Here we present a brief introduction to the most common kinds of prenatal tests along with some basic knowledge of genetic consultation.

    Publish: 2014/9/9

  • Klinefelter Syndrome

    Klinefelter syndrome, with the karyotype 47,XXY, is one of the commonest types of congenital chromosomal disorder in males. With an incidence of 0.1% to 0.2% of newborn male infants, it often causes hypogonadism and infertility. Although with different severity, most patients have normal lifespan as general public. Here we present a brief introduction to the common knowledge of Klinefelter syndrome.

    Publish: 2014/10/16

  • Blood Smear

    A blood smear gives information about the number and shape of blood cells. To perform a blood smear, two very clean slides are required. Drop a small drop of blood on one of the slides. Pull blood forward across slide.

    Publish: 2010/8/30

  • Down Syndrome

    Down syndrome, also known as trisomy 21, is a genetic disorder caused by the somatic aneuploidy of chromosome 21. It is typically associated with delayed physical growth, characteristic facial appearance, and mild to moderate intellectual disability. Down syndrome is the most common somatic aneuploidy in humans occurs in 1 out of 700 live births in all ethnic groups. Here we present a brief introduction to the common knowledge of Down syndrome.

    Publish: 2014/9/16

  • Trisomy X Syndrome

    Trisomy X Syndrome, resulted from sex chromosome X trisomy, is regarded the most common female aneuploidies. It is characterized with a broad spectrum of phenotypic variations. Although with different severity, most patients have normal lifespan as general public. Here we present a brief introduction to the common knowledge of Trisomy X Syndrome.

    Publish: 2014/10/9

  • Edwards Syndrome

    Edwards syndrome, also known as trisomy 18, is a genetic disorder resulted from the somatic aneuploidy with an extra chromosome 18. It is typically associated with significant infant mortality. Edwards syndrome is the second most common somatic aneuploidy after Down syndrome. Here we present a brief introduction to the common knowledge of Edwards syndrome.

    Publish: 2014/9/23

  • Patau Syndrome

    Patau Syndrome, resulted from chromosome 13 trisomy, is regarded the least common but the most severe among those somatic aneuploidies. It is typically associated with significant infant mortality. Clinical features of Patau syndrome include delayed development with central nervous system anomalies, midline facial defects, and urogenital malformations. Medical management of children with Trisomy 13 should be planned on a case-by-case basis according to the individual circumstances of the patient. Here we present a brief introduction to the common knowledge of Patau Syndrome.

    Publish: 2014/10/1

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