Screening for Duchenne muscular dystrophy in newborns in the Ningxia region
OBJECTIVES: To evaluate the incidence rate of Duchenne muscular dystrophy (DMD) in the male newborns in the Ningxia region and establish a critical threshold for screening DMD in newborns to distinguish between the normal population and affected individuals.
METHODS: A total of 10 000 male newborns were screened using immunofluorescence analysis of creatine kinase isoenzyme concentrations in heel spot dried blood specimens. Newborns with the concentrations higher than the critical threshold were recalled for serum creatine kinase measurements. Genetic testing was performed to confirm diagnosis in cases showing abnormalities.
RESULTS: Among the screened 10 000 male newborns, two were confirmed to have DMD through genetic testing, resulting in a preliminary estimated incidence rate of 1/5 000 for male newborns in the Ningxia region. The critical threshold for creatine kinase isoenzyme concentration in newborns in this region was determined to be 468.57 ng/mL.
CONCLUSIONS: Screening for DMD in newborns is feasible in the Ningxia region. Early screening, diagnosis, and treatment of DMD can improve the quality of life for affected individuals and help families make informed decisions regarding further pregnancies.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:26 |
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| Enthalten in: |
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 26(2024), 3 vom: 15. März, Seite 258-261 |
| Sprache: |
Chinesisch |
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| Weiterer Titel: |
宁夏地区新生儿杜氏肌营养不良症筛查 |
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| Beteiligte Personen: |
Jing, Miao [VerfasserIn] |
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| Links: |
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| Themen: |
Creatine Kinase |
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| Anmerkungen: |
Date Completed 03.04.2024 Date Revised 04.04.2024 published: Print Citation Status MEDLINE |
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| doi: |
10.7499/j.issn.1008-8830.2309151 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM370468805 |
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| 245 | 1 | 0 | |a Screening for Duchenne muscular dystrophy in newborns in the Ningxia region |
| 246 | 3 | 3 | |a 宁夏地区新生儿杜氏肌营养不良症筛查 |
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| 500 | |a Date Completed 03.04.2024 | ||
| 500 | |a Date Revised 04.04.2024 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVES: To evaluate the incidence rate of Duchenne muscular dystrophy (DMD) in the male newborns in the Ningxia region and establish a critical threshold for screening DMD in newborns to distinguish between the normal population and affected individuals | ||
| 520 | |a METHODS: A total of 10 000 male newborns were screened using immunofluorescence analysis of creatine kinase isoenzyme concentrations in heel spot dried blood specimens. Newborns with the concentrations higher than the critical threshold were recalled for serum creatine kinase measurements. Genetic testing was performed to confirm diagnosis in cases showing abnormalities | ||
| 520 | |a RESULTS: Among the screened 10 000 male newborns, two were confirmed to have DMD through genetic testing, resulting in a preliminary estimated incidence rate of 1/5 000 for male newborns in the Ningxia region. The critical threshold for creatine kinase isoenzyme concentration in newborns in this region was determined to be 468.57 ng/mL | ||
| 520 | |a CONCLUSIONS: Screening for DMD in newborns is feasible in the Ningxia region. Early screening, diagnosis, and treatment of DMD can improve the quality of life for affected individuals and help families make informed decisions regarding further pregnancies | ||
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Creatine kinase isoenzyme | |
| 650 | 4 | |a Critical threshold | |
| 650 | 4 | |a Duchenne muscular dystrophy | |
| 650 | 4 | |a Incidence rate | |
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| 700 | 1 | |a Jing, Xiao-Ying |e verfasserin |4 aut | |
| 700 | 1 | |a Mao, Xin-Mei |e verfasserin |4 aut | |
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