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1.
Herald of Medicine ; (12): 187-192, 2019.
Artigo em Chinês | WPRIM | ID: wpr-744212

RESUMO

The pharmaceutical co-crystal has attracted a lot of attention in recent years as a new direction in the research of polymorphism drugs. The research on pharmaceutical co-crystal has scientific significance for improving the solubility, bioavailability and physical or chemical stability of drugs. In this paper, from the perspective of drugs for the treatment of cardiovascular diseases(including five major types: heart failure, hypertension, coronary heart disease and arrhythmia, stroke) , the latest research results of pharmaceutical co-crystal reported in recent years are reviewed, hope to provide reference for the follow-up research and promote the development of pharmaceutical co-crystal in China.

2.
Chinese Journal of Medical Genetics ; (6): 1219-1221, 2019.
Artigo em Chinês | WPRIM | ID: wpr-781312

RESUMO

OBJECTIVE@#To analyze the clinical phenotype and genomic abnormality of an adult featuring congenital heart defect and multiple developmental disorders.@*METHODS@#The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis.@*RESULTS@#The patient showed a normal karyotype, while SNP-array revealed a 42.7 Mb mosaic uniparental disomy (UPD) in the 11p15.5p12 region ([hg19] chr11: 491 333-43 189 376).@*CONCLUSION@#The mosaicism of UPD of 11p15.5p12 region probably underlies the congenital heart defect and developmental disorders in the patient.


Assuntos
Adulto , Humanos , Bandeamento Cromossômico , Deficiências do Desenvolvimento , Genética , Testes Genéticos , Cardiopatias Congênitas , Genética , Cariotipagem , Mosaicismo , Fenótipo , Polimorfismo de Nucleotídeo Único , Dissomia Uniparental
3.
Chinese Journal of Medical Genetics ; (6): 1219-1221, 2019.
Artigo em Chinês | WPRIM | ID: wpr-799981

RESUMO

Objective@#To analyze the clinical phenotype and genomic abnormality of an adult featuring congenital heart defect and multiple developmental disorders.@*Methods@#The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis.@*Results@#The patient showed a normal karyotype, while SNP-array revealed a 42.7 Mb mosaic uniparental disomy (UPD) in the 11p15.5p12 region ([hg19] chr11: 491 333 - 43 189 376).@*Conclusion@#The mosaicism of UPD of 11p15.5p12 region probably underlies the congenital heart defect and developmental disorders in the patient.

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