1.A Case of Hypoparathyroidism With Hypocalcemic Heart Failure Caused by DiGeorge Syndrome
Xiru LIAN ; Liang ZHANG ; Chunfei ZHENG ; Wenping ZHAO ; Xinwei JIA ; Zhanqi WANG ; Xiangxin LI
Chinese Circulation Journal 2025;40(2):186-189
DiGeorge(DGS)syndrome is an autosomal dominant disorder caused by 22q11.2 microdeletions,most patients developed the disease in childhood.22q11.2 deletion syndrome,and the mutation types are dominated by haploid deletion of this gene.We report a young patient with hypoparathyroidism(parathyroidism)induced by DGS syndrome combined with hypocalcemic heart failure.Genetic testing revealed pathogenic copy number variants associated with the clinical phenotype of the subject.About 2 674 kb of deletion variation was detected at q11.21 position on chromosome 22,which contained the TBX1 gene and was a pathogenic mutation.This paper discusses the clinical features,pathogenesis and current treatment of DGS,and emphasizes the importance of early screening,early diagnosis and treatment,and regular follow-up of heart failure,aiming to enhance the awareness of clinicians and geneticists on DGS syndrome.
2.A Case of Hypoparathyroidism With Hypocalcemic Heart Failure Caused by DiGeorge Syndrome
Xiru LIAN ; Liang ZHANG ; Chunfei ZHENG ; Wenping ZHAO ; Xinwei JIA ; Zhanqi WANG ; Xiangxin LI
Chinese Circulation Journal 2025;40(2):186-189
DiGeorge(DGS)syndrome is an autosomal dominant disorder caused by 22q11.2 microdeletions,most patients developed the disease in childhood.22q11.2 deletion syndrome,and the mutation types are dominated by haploid deletion of this gene.We report a young patient with hypoparathyroidism(parathyroidism)induced by DGS syndrome combined with hypocalcemic heart failure.Genetic testing revealed pathogenic copy number variants associated with the clinical phenotype of the subject.About 2 674 kb of deletion variation was detected at q11.21 position on chromosome 22,which contained the TBX1 gene and was a pathogenic mutation.This paper discusses the clinical features,pathogenesis and current treatment of DGS,and emphasizes the importance of early screening,early diagnosis and treatment,and regular follow-up of heart failure,aiming to enhance the awareness of clinicians and geneticists on DGS syndrome.
3.Observation of effect and psychological intervention on treating postpartum hemorrhage due to uterine atony
Chinese Journal of Biochemical Pharmaceutics 2017;37(9):120-121
Objective To investigate the clinical effect of Xinmupei and psychological intervention on postpartum hemorrhage caused by uterine atony. Methods The control group was given hemabate treatment,the study group in the patients with uterine atony postpartum hemorrhage hemabate treatment combined with psychological intervention,treatment records,two groups of patients with postpartum hemorrhage caused by uterine atony incidence of adverse reactions,the data input SPSS software for statistical analysis. Results The clinical total efficiency in study group was 93.62%.Total effective rate of the control group was 76.60%(P<0.05);the incidence of adverse reactions(19.15%)was significantly lower than the control group(38.30%,P<0.05). Conclusion In the treatment of postpartum hemorrhage due to uterine atony,the use of psychological intervention for the patient's actual situation is beneficial to achieve more satisfactory treatment effectiveness and safety.

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