newborn mass screening

新生児マススクリーニング

WordNet

1. join together into a mass or collect or form a mass; "Crowds were massing outside the palace"
2. the property of a body that causes it to have weight in a gravitational field
3. a body of matter without definite shape; "a huge ice mass"
4. an ill-structured collection of similar things (objects or people)
5. fabric of metal or plastic mesh
6. testing objects or persons in order to identify those with particular characteristics
7. the display of a motion picture (同)showing, viewing
8. recently born; "a newborn infant"
9. having just or recently arisen or come into existence; "new nations"; "with newborn fears" (同)new-sprung
10. (Roman Catholic Church and Protestant Churches) the celebration of the Eucharist
11. a musical setting for a Mass; "they played a Mass composed by Beethoven"
12. a sequence of prayers constituting the Christian Eucharistic rite; "the priest said Mass"
13. informal terms for a mother (同)mama, mamma, mom, momma, mommy, mammy, mum, mummy

PrepTutorEJDIC

1. 〈C〉(一定の形をもたない物に用いて)…の)『固まり』,集まり《+『of』+『名』》 / 〈C〉『多数』,多量(の…)《+『of』+『名』》 / 〈C〉《the ~》『大部分』(の…),(…の)主要部《+『of』+『名』》 / 〈U〉(物体の)大きさ,かさ / 《the masses》『一般大衆』,庶民 / 〈U〉質量(物体の基本的性質を表す量) / 〈人・物〉‘を'集める,一団にする / 〈人・物が〉一かたまりになる,一団となる / 大衆の,一般に付及した / 大規模な
2. 映写,上映 / (志願者などを)選抜すること
3. 生まれたばかりの / 生まれ変わった,再生の
4. 《M-》《話》おかあちゃん(mamma)

UpToDate Contents

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• 1. 新生児スクリーニング newborn screening
• 2. 薬物乱用検査（DOA） testing for drugs of abuse doa
• 3. 幼児、小児および思春期における卵巣嚢腫、および腫瘍 ovarian cysts and neoplasms in infants children and adolescents
• 4. 卵巣および卵管捻転 ovarian and fallopian tube torsion
• 5. 神経芽細胞腫の臨床所見、診断、および病期分類評価 clinical presentation diagnosis and staging evaluation of neuroblastoma

English Journal

• Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance.

• Knowles RL, Khalid JM, Oerton JM, Hindmarsh PC, Kelnar CJ, Dezateux C.Author information MRC Centre of Epidemiology for Child Health, Institute of Child Health, University College London, , London, UK.AbstractOBJECTIVES: To describe the clinical presentation and sequelae, including salt-wasting crises of newly-diagnosed congenital adrenal hyperplasia (CAH) in children aged over 1 year in a contemporary population without screening. To appraise the potential benefit of newborn screening for late-presenting CAH.
• Archives of disease in childhood.Arch Dis Child.2014 Jan;99(1):30-4. doi: 10.1136/archdischild-2012-303070. Epub 2013 Sep 16.
• OBJECTIVES: To describe the clinical presentation and sequelae, including salt-wasting crises of newly-diagnosed congenital adrenal hyperplasia (CAH) in children aged over 1 year in a contemporary population without screening. To appraise the potential benefit of newborn screening for late-presentin
• PMID 24043550

• Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: A retrospective and prospective evaluation.

• Seo JY, Park HD, Kim JW, Oh HJ, Yang JS, Chang YS, Park WS, Lee SY.AbstractAbstract Background: Newborn screening for congenital adrenal hyperplasia (CAH) based on measuring 17-hydroxyprogesterone (17-OHP) by immunoassay generates a number of false-positive results, especially in preterm neonates. We applied steroid profiling by using liquid chromatography-tandem mass spectrometry (LC-MS/MS) as a second-tier test in newborns with positive CAH screening and evaluated its clinical utility in a tertiary care hospital setting. Methods: By performing a 4-year retrospective data review, we were able to test 121 dried blood spots from newborns with positive CAH screening for 17-OHP, androstenedione and cortisol levels by LC-MS/MS. We prospectively evaluated the clinical utility of steroid profiling after the implementation of steroid profiling as a second-tier test in our routine clinical practice. During the 2-year prospective study period, 104 cases with positive initial screening by FIA were tested by LC-MS/MS. Clinical and laboratory follow-up were performed for at least 6 months. Results: The preterm neonates accounted for 50.7% (76/150) and 70.4% (88/125) of screening-positive cases in retrospective and prospective cohorts, respectively. By applying steroid profiling as a second-tier test for positive CAH screening, we eliminated all false-positive results and decreased the median follow-up time from 75 to 8 days. Conclusions: Our data showed that steroid profiling reduced the burden of follow-up exams by improving the positive predictive value of the CAH screening program. The use of steroid profiling as a second-tier test for positive CAH screening will improve clinical practice particularly in a tertiary care hospital setting where positive CAH screening from preterm neonates is frequently encountered.
• Journal of perinatal medicine.J Perinat Med.2014 Jan 1;42(1):121-7. doi: 10.1515/jpm-2013-0154.
• Abstract Background: Newborn screening for congenital adrenal hyperplasia (CAH) based on measuring 17-hydroxyprogesterone (17-OHP) by immunoassay generates a number of false-positive results, especially in preterm neonates. We applied steroid profiling by using liquid chromatography-tandem mass spec
• PMID 23989111

• The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.

• la Marca G, Giocaliere E, Malvagia S, Funghini S, Ombrone D, Della Bona ML, Canessa C, Lippi F, Romano F, Guerrini R, Resti M, Azzari C.Author information Newborn Screening, Biochemistry and Pharmacology Laboratories, Clinic of Pediatric Neurology, Meyer University Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Italy. Electronic address: g.lamarca@meyer.it.AbstractSevere combined immunodeficiency due to adenosine-deaminase defect (ADA-SCID) is usually deadly in childhood because of severe recurrent infections. When clinical diagnosis is done, permanent damages due to infections or metabolite accumulation are often present. Gene therapy, bone marrow transplantation or enzyme replacement therapy may be effective if started early. The aim of this study was to set-up a robust method suitable for screening with a minimized preparation process and with inexpensive running costs, for diagnosing ADA-SCID by tandem mass spectrometry. ADA-SCID satisfies all the criteria for inclusion in a newborn screening program. We describe a protocol revised to incorporate adenosine and 2-deoxyadenosine testing into an expanded newborn screening program. We assessed the effectiveness of this approach testing dried blood spots from 4 genetically confirmed early-onset and 5 delayed-onset ADA-SCID patients. Reference values were established on 50,000 healthy newborns (deoxyadenosine <0.09μmol/L, adenosine <1.61μmol/L). We also developed a second tier test to distinguish true positives from false positives and improve the positive predictive value of an initial abnormal result. In the first 18 months, the pilot project has identified a newborn with a genetically confirmed defect in adenosine deaminase (ADA) gene. The results show that the method having great simplicity, low cost and low process preparations can be fully applicable to a mass screening program.
• Journal of pharmaceutical and biomedical analysis.J Pharm Biomed Anal.2014 Jan;88:201-6. doi: 10.1016/j.jpba.2013.08.044. Epub 2013 Sep 8.
• Severe combined immunodeficiency due to adenosine-deaminase defect (ADA-SCID) is usually deadly in childhood because of severe recurrent infections. When clinical diagnosis is done, permanent damages due to infections or metabolite accumulation are often present. Gene therapy, bone marrow transplant
• PMID 24076575

Japanese Journal

• タンデムマスを用いる先天性代謝異常症の拡大スクリーニングの現状

• 久原 とみ子
• 日本衛生学雑誌 = Japanese journal of hygiene 69(1), 60-74, 2014-01
• NAID 40019974438

• タンデムマスを用いる先天性代謝異常症の拡大スクリーニングの現状

• 久原 とみ子
• 日本衛生学雑誌 69(1), 60-74, 2014
• … In Japan, screening for six diseases including four inborn errors of metabolism has been performed since 1977 for all neonates to prevent severe mental handicaps or death. … A rapid screening procedure for analysis of several amino acids and acylcarnitines in blood spots by tandem mass spectrometry was developed by Millington DS et al. …
• NAID 130003394515

• タンデムマス・スクリーニングの全国展開

• 重松 陽介
• 小児保健研究 = The journal of child health 72(5), 605-609, 2013-09
• NAID 40019809723

Related Links

• NERGG Massachusetts Newborn Screening Program

Massachusetts Newborn Screening Program Info. WEBSITE: http://www. umassmed.edu/nbs. CONTACT: Director: Roger Eaton, PhD. Deputy Director: Anne Marie Comeau, PhD. New England Newborn Screening Program 305 South St.

• Newborn screening - Wikipedia, the free encyclopedia

With this testing methodology, newborn screening required one test to detect one condition. As mass spectrometry became more widely available, the technology allowed rapid determination of a number of acylcarnitines and amino acids from ...

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★リンクテーブル★

リンク元	「新生児マススクリーニング」
関連記事	「screening」「mass」「newborn」「mass screening」

「新生児マススクリーニング」

　　[★]

英

newborn mass screening

関

先天性代謝異常

新生児マススクリーニング

• http://souko.ggtt.net/file/sotsushi/shoni_tp.html
• http://mymed.jp/di/y7t.html

検査時期：生後5-7日の採血

多い順	疾患名	検査法	測定物質	発見率	症状		治療法
4	フェニルケトン尿症	Guthrie法	フェニルアラニン	1/80,000	知能障害、痙攣、メラニン欠乏		低フェニルアラニン食
6	メープルシロップ尿症		ロイシン	1/450,000	痙攣、意識障害、昏睡、知能障害		急性期治療、食事療法（分枝鎖アミノ酸制限）
5	ホモシスチン尿症		メチオニン	1/180,000	高身長、水晶体偏位、血栓症、知能障害		ビタミンB6、低メチオニン高システイン食療法
3	ガラクトース血症	Beutler法./ Paigen法	gal-4-P トランスフェラーゼ/ ガラクトース	1/40,000	I型	肝障害、発育障害、白内障、知能障害
					II型	白内障	乳糖除去ミルク・除去食
					III型	大部分は末梢型で無症状
2	先天性副腎過形成症	RIA法 ELISA	17-OHプロゲステロン	1/13,000	塩喪失症候群(ショック、脱水)、男性化徴候、色素沈着		コルチゾール、フロリネフ
1	先天性甲状腺機能低下症 (クレチン症)		TSH	1/4,800	精神発達遅滞、発育遅延、巨舌、黄疸の遷延、臍ヘルニア		甲状腺ホルモン補充療法

暇があればチェック

• http://www.yobouigaku-tokyo.or.jp/nenpo/pdf/2006/06-5.pdf
• http://kodomo-kenkou.com/default/file_download/71

「screening」

　　[★]

• n.

• スクリーニング、選別、ふるい分け、検診

関

cull、filter、filtering、mass screening、medical check-up、medical examination、screen、sort、sorting

　 　 　 　

「mass」

　　[★]

• n.

• 塊、密集体、集団、多数、大量
• 大部分、主要部、大半
• 質量
• 一般大衆
• (医)腫瘤

　 　 　 　 　

「newborn」

　　[★]

• n.

• 新生児

• adj.

• 新生児の

関

neonatal、neonate、newborn animal、newborn infant

　 　 　

「mass screening」

　　[★]

• 集団検診

関

health screening、health testing、screening