性发育异常(disorders of sex development, DSD)是一组以染色体核型、性腺表型、性腺解剖结构不一致为特征的先天性疾病。46,XY DSD主要是指染色体核型为46,XY但性腺性别和(或)表型性别与之不相匹配的一类疾病,临床表现异质性大。由于...性发育异常(disorders of sex development, DSD)是一组以染色体核型、性腺表型、性腺解剖结构不一致为特征的先天性疾病。46,XY DSD主要是指染色体核型为46,XY但性腺性别和(或)表型性别与之不相匹配的一类疾病,临床表现异质性大。由于疾病内部的遗传异质性和疾病之间的表型重叠,诊断具有挑战性。Disorders of sex development (DSD) are a group of congenital diseases characterized by inconsistencies in chromosomal karyotype, gonadal phenotype, and gonadal anatomical structure. 46,XY DSD mainly refers to a type of disease in which the chromosomal karyotype is 46,XY but the gonadal sex and/or phenotypic sex do not match it, and the clinical manifestations are highly heterogeneous. Due to the genetic heterogeneity within the disease and the phenotypic overlap between diseases, diagnosis is challenging.展开更多
新生儿败血症早期临床表现缺乏特异性,且病情进展迅速,可造成多脏器功能损伤甚至死亡。新型的生物标记物如细胞因子,在既往的研究中已被证实与疾病的早期诊断相关。本文对细胞因子在新生儿败血症早期诊断中的研究进展进行综述。The earl...新生儿败血症早期临床表现缺乏特异性,且病情进展迅速,可造成多脏器功能损伤甚至死亡。新型的生物标记物如细胞因子,在既往的研究中已被证实与疾病的早期诊断相关。本文对细胞因子在新生儿败血症早期诊断中的研究进展进行综述。The early clinical manifestations of neonatal sepsis are lack of specificity, and the disease progresses rapidly, which can cause multiple organ dysfunction and even death. Novel biomarkers such as cytokines have been shown to be associated with disease diagnosis and prognosis in previous studies. This article reviews the research progress of cytokines in the early diagnosis of neonatal septicemia.展开更多
文摘性发育异常(disorders of sex development, DSD)是一组以染色体核型、性腺表型、性腺解剖结构不一致为特征的先天性疾病。46,XY DSD主要是指染色体核型为46,XY但性腺性别和(或)表型性别与之不相匹配的一类疾病,临床表现异质性大。由于疾病内部的遗传异质性和疾病之间的表型重叠,诊断具有挑战性。Disorders of sex development (DSD) are a group of congenital diseases characterized by inconsistencies in chromosomal karyotype, gonadal phenotype, and gonadal anatomical structure. 46,XY DSD mainly refers to a type of disease in which the chromosomal karyotype is 46,XY but the gonadal sex and/or phenotypic sex do not match it, and the clinical manifestations are highly heterogeneous. Due to the genetic heterogeneity within the disease and the phenotypic overlap between diseases, diagnosis is challenging.
文摘新生儿败血症早期临床表现缺乏特异性,且病情进展迅速,可造成多脏器功能损伤甚至死亡。新型的生物标记物如细胞因子,在既往的研究中已被证实与疾病的早期诊断相关。本文对细胞因子在新生儿败血症早期诊断中的研究进展进行综述。The early clinical manifestations of neonatal sepsis are lack of specificity, and the disease progresses rapidly, which can cause multiple organ dysfunction and even death. Novel biomarkers such as cytokines have been shown to be associated with disease diagnosis and prognosis in previous studies. This article reviews the research progress of cytokines in the early diagnosis of neonatal septicemia.
