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Volume 28, Issue 4
Displaying 1-6 of 6 articles from this issue
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Takeshi Sakurai1999 Volume 28 Issue 4 Pages 148-154
Published: December 31, 1999
Released on J-STAGE: November 27, 2012
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Takashi Murakami, Kenji Shima1999 Volume 28 Issue 4 Pages 155-160
Published: December 31, 1999
Released on J-STAGE: November 27, 2012
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Tokio Sanke, Setsuya Sakagashira1999 Volume 28 Issue 4 Pages 161-166
Published: December 31, 1999
Released on J-STAGE: November 27, 2012
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Kayoko Tateishi1999 Volume 28 Issue 4 Pages 167-174
Published: December 31, 1999
Released on J-STAGE: November 27, 2012
JOURNAL FREE ACCESSDownload PDF (970K) -
Tadashi Kawai1999 Volume 28 Issue 4 Pages 175-181
Published: December 31, 1999
Released on J-STAGE: November 27, 2012
JOURNAL FREE ACCESSA historical background of the diagnosis-related group/prospective payment system (DRG/PPS) in the United States is reviewed, and its impact to the health care services, including the clinical laboratory is discussed.View full abstractDownload PDF (970K) -
Makiko Nakata, Mutuko Nakahara, Hiroko Iida, Sachiko Kinoshita, Ryouit ...1999 Volume 28 Issue 4 Pages 182-187
Published: December 31, 1999
Released on J-STAGE: November 27, 2012
JOURNAL FREE ACCESSIn the present study, we present a patient with congenital hypothyroidism accompanied by low cholinesterase activity in serum. The proband is a 48-year-old Japanese woman. The cholinesterase activity in the proband was consistently decreased to 5% of the reference range.The full coding region of the cholinesterase gene (exon 2-4) was amplified and the amplified PCR products were sequenced by the dideoxy cycle sequence method. A genetic mutation of A to G transition was identified in the exon 2, resulting in a missense mutation from Glu (GAA) to Gly (GGA) at codon 90 of exon 2. This patient was homozygous for this substitution and the common polymorphism site of codon 539 in exon 4 was Thr (ACA), indicating this allele is Kvariant. Although we could not investigate the mRNA amount in liver cells, we tentatively concluded that the proband had no cholinesterase activity in serum due to abnormal secretion from the liver cells due to the missense mutation.View full abstractDownload PDF (2217K)
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