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1.
Journal of Korean Medical Science ; : 138-141, 2008.
Article in English | WPRIM | ID: wpr-222189

ABSTRACT

Acquired hemophilia is a rare disorder caused by autoantibodies to factor VIII (FVIII) (also referred to as factor VIII inhibitors or anti-FVIII) and may be associated with pregnancy, underlying malignancy, or autoimmune disorders. A 33-month-old girl who presented with hematochezia and ecchymotic skin lesions was diagnosed with Mycoplasma pneumoniae pneumonia by serology and polymerase chain reaction. Hematologic studies showed a prolonged activated partial thromboplastin time (aPTT), partially corrected mixing test for aPTT, reduced levels of FVIII, and the presence of antibodies against FVIII. She was treated conservatively with prednisone and intravenous immunoglobulin (IVIG) without FVIII transfusion and recovered without sequelae. This report provides the first description of acquired hemophilia due to anti-FVIII in association with M. pneumoniae in Korea. We discuss this case in the context of the current literature on acquired hemophilia in children.


Subject(s)
Child, Preschool , Female , Humans , Autoantibodies/blood , Factor VIII/immunology , Hemophilia A/etiology , Partial Thromboplastin Time , Pneumonia, Mycoplasma/complications , Time Factors
2.
Korean Journal of Pediatrics ; : 1068-1075, 2005.
Article in Korean | WPRIM | ID: wpr-178942

ABSTRACT

PURPOSE: The role of ghrelin, which promotes the secretion of growth hormone, was not well known until now. Recently it was found that the mutation of ghrelin gene is related to obesity and diabetes. This study is to find the screening method that can easily and effectively detect the polymorphism of Leu72Met in ghrelin gene of obesity patients and apply it to clinical usage. METHODS: We compared PCR-RFLP, PCR-SSCP and ARMS methodologies for analyzing of the polymorphism of Leu72Met in ghrelin gene of obesity children, and also studied the merits and demerits of these methodologies. RESULTS: In this study, we were able to find out the band of peculiar allele of Leu72Met in ghrelin gene using PCR-RFLP, PCR-SSCP and ARMS analyses. The polymorphism of Leu72Met in ghrelin gene determined by all above methodologies was in complete agreement. Compared to the PCR- RFLP and PCR-SSCP, ARMS analysis is simple, inexpensive and also consume less time. It is very sensitive to analyze the polymorphism and easy to understand the results of test. CONCLUSION: Though PCR-RFLP, PCR-SSCP and ARMS analyses were sensitive to analyze the polymorphism of Leu72Met in ghrelin gene, ARMS analysis appears to be more efficient than PCR-RFLP and PCR-SSCP. Therefore, we conclude that ARMS analysis is suitable to analyze the polymorphism of Leu72Met in ghrelin gene for large quantity of specimens.


Subject(s)
Child , Humans , Alleles , Arm , Ghrelin , Growth Hormone , Mass Screening , Obesity , Polymorphism, Restriction Fragment Length
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