Diagnostic challenge of the newborn patients with heritable protein C deficiency

Masako Ichiyama, Hirosuke Inoue, Masayuki Ochiai, masataka ishimura, Akira Shiraishi, Junko Fujiyoshi, Hironori Yamashita, Kazuo Sato, Shinya Matsumoto, Taeko Hotta, Takeshi Uchiumi, Dongchon Kang, Shoichi Ohga

研究成果: ジャーナルへの寄稿記事

抄録

Objective: The diagnosis of neonatal-onset protein C (PC) deficiency is challenging. This study aimed to establish the neonatal screening of heritable PC deficiency in Japan. Study design: We determined the changes in plasma activity levels of PC and protein S (PS) in healthy neonates, and studied newborn patients with PROC mutation in the Japanese registry. Result: Physiological PC and PS levels increased with wide range. The PC/PS-activity ratios converged after birth. The PC/PS-activity ratios of 19 patients with biallelic mutations, but not, 9 with monoallelic mutation, were lower than those of 13 without mutation. The logistic regression analyses established a formula including two significant variables of PC activity (cut-off < 10%, odds ratio = 30.0) and PC/PS-activity ratio (cut-off < 0.35, odds ratio = 22.7), with 93% sensitivity and 44% specificity for determining patients with mutation(s). Conclusion: The PC/PS-activity ratio is an effective parameter for the genetic screening of neonatal-onset PC-deficiency in Japanese population.

元の言語英語
ページ(範囲)212-219
ページ数8
ジャーナルJournal of Perinatology
39
発行部数2
DOI
出版物ステータス出版済み - 2 1 2019

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Protein C Deficiency
Protein C
Protein S
Newborn Infant
Mutation
Odds Ratio
Neonatal Screening
Genetic Testing
Registries
Japan
Logistic Models
Regression Analysis
Parturition
Sensitivity and Specificity

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynaecology

これを引用

Diagnostic challenge of the newborn patients with heritable protein C deficiency. / Ichiyama, Masako; Inoue, Hirosuke; Ochiai, Masayuki; ishimura, masataka; Shiraishi, Akira; Fujiyoshi, Junko; Yamashita, Hironori; Sato, Kazuo; Matsumoto, Shinya; Hotta, Taeko; Uchiumi, Takeshi; Kang, Dongchon; Ohga, Shoichi.

:: Journal of Perinatology, 巻 39, 番号 2, 01.02.2019, p. 212-219.

研究成果: ジャーナルへの寄稿記事

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abstract = "Objective: The diagnosis of neonatal-onset protein C (PC) deficiency is challenging. This study aimed to establish the neonatal screening of heritable PC deficiency in Japan. Study design: We determined the changes in plasma activity levels of PC and protein S (PS) in healthy neonates, and studied newborn patients with PROC mutation in the Japanese registry. Result: Physiological PC and PS levels increased with wide range. The PC/PS-activity ratios converged after birth. The PC/PS-activity ratios of 19 patients with biallelic mutations, but not, 9 with monoallelic mutation, were lower than those of 13 without mutation. The logistic regression analyses established a formula including two significant variables of PC activity (cut-off < 10{\%}, odds ratio = 30.0) and PC/PS-activity ratio (cut-off < 0.35, odds ratio = 22.7), with 93{\%} sensitivity and 44{\%} specificity for determining patients with mutation(s). Conclusion: The PC/PS-activity ratio is an effective parameter for the genetic screening of neonatal-onset PC-deficiency in Japanese population.",
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AU - Ochiai, Masayuki

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AU - Shiraishi, Akira

AU - Fujiyoshi, Junko

AU - Yamashita, Hironori

AU - Sato, Kazuo

AU - Matsumoto, Shinya

AU - Hotta, Taeko

AU - Uchiumi, Takeshi

AU - Kang, Dongchon

AU - Ohga, Shoichi

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