RESUMO
Objective@#To delineate the clinical features, inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication.@*Methods@#Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization(FISH) were employed for the analysis of the proband and his family members.@*Results@#A 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal.@*Conclusion@#Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family.P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.
RESUMO
OBJECTIVE@#To delineate the clinical features,inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication.@*METHODS@#Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization (FISH) were employed for the analysis of the proband and his family members.@*RESULTS@#A 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal.@*CONCLUSION@#Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family. P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.
Assuntos
Adulto , Pré-Escolar , Humanos , Masculino , Anormalidades Múltiplas , Genética , China , Duplicação Cromossômica , Cromossomos Humanos Par 17 , Genética , Deficiências do Desenvolvimento , Genética , Hibridização in Situ Fluorescente , Cariotipagem , Proteínas Associadas aos Microtúbulos , Translocação GenéticaRESUMO
Objective To investigate the effect of continuous nursing on the psychological status and quality of life in patients with low rectal cancer after Miles operation.Methods A total of 84 patients with low rectal carcinoma underwent Miles operation were selected from August 2014 to August 2016 in Henan Rongjun Hospital.The patients were divided into observation group (n =38) and control group (n =46) according to nursing measures.The patients in the control group were given routine nursing measures,while the patients in the observation group were given continuous nursing measures on the basis of routine nursing care.The psychological status and quality of life of the patients were compared between the two groups before and after intervention.Results There was no significant difference in swlf-rating anxiety scale (SAS) and self-rating depression scale(SDS) scores between the two groups before intervention (P ＞ 0.05).After six months intervention,the SAS and SDS scores in the two groups were significantly lower than those before intervention,and the scores of SAS and SDS in the observation group were significantly lower than those in the control group (P ＜0.05).There was no significant difference in the quality of life between the two groups before intervention (P ＞ 0.05).After six months intervention,the quality of life of patients in the two groups were significantly higher than those before intervention,and the quality of life of patients in the observation group were significantly higher than those in the control group (P ＜ 0.05).Conclusion Continuous nursing can significantly improve the negative emotions of anxiety and depression,and improve the quality of life in patients with low rectal cancer after Miles operation.