Mutations in the X-linked androgen receptor （AR） gene cause androgen insensitivity syndrome （AIS）, resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity （CAI...Mutations in the X-linked androgen receptor （AR） gene cause androgen insensitivity syndrome （AIS）, resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity （CAIS） produces a female external phenotype, whereas cases with partial androgen insensitivity （PALS） have various ambiguities of the genitalia. Mild androgen insensitivity （MAIS） is characterized by undermasculinization and gynecomastia. Here we describe a 2-month-old 46,XY female patient, with all of the characteristics of CAIS. Defects in testosterone （T） and dihydrotestosterone （DHT） synthesis were excluded. Sequencing of the AR gene showed the presence in exon 6 of a T to C transition in the second base of codon 790, nucleotide position 2369, causing a novel missense Leu790Pro mutation in the ligand-binding domain of the AR protein. The identification of a novel AR mutation in a girl with CAIS provides significant information due to the importance of missense mutations in the ligand-binding domain of the AR, which are able to induce functional abnormalities in the androgen binding capability, stabilization of active conformation, or interaction with coactivators.展开更多
Objective:To explore the characteristics of bone mineral density(BMD)and treatment inChinese patients with complete androgen insensitivity syndrome(CAIS).Methods:Fourteen cases of CAIS were studied retrospectively thr...Objective:To explore the characteristics of bone mineral density(BMD)and treatment inChinese patients with complete androgen insensitivity syndrome(CAIS).Methods:Fourteen cases of CAIS were studied retrospectively through analyzing and compa-ring BMD of pre-and post-gonadectomy with healthy Chinese men and women.BMD at the lum-bar spine and the femur were measured by dual energy X-ray absorptiometry(DXA).Results:There were 10 cases of CAIS having pre-gonadectomy DXA,in which 6 cases hadvery significantly reduced lumbar 2-4 BMD[(0.92±0.08)g/cm^2]comparing with both healthymen and women(P<0.01),5 cases had significantly reduced femur neck BMD[(0.89±0.12)g/cm^2]comparing with healthy men(P<0.05).There were 7 cases having 12 post-gonadectomyDXA,in which all lumbar 2-4 BMD[(0.954-0.06)g/cm^2]were reduced very significantly com-paring with both healthy men and women(P<0.01),femur neck BMD[(0.91±0.08)g/cm^2]were also reduced significantly comparing with healthy men(P<0.01)and women(P<0.05).Conclusion:There were different degrees of osteopenia in patients of CAIS,especially inlumbar vertebra.This suggests that both estrogen and androgen play important roles in the ac-quirement and maintenance of peak bone mass.展开更多
Purpose: This study examines quality of life and psychological distress in individuals with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) and Complete Androgen Insensitivity Syndrome (CAIS), two syndromes belon...Purpose: This study examines quality of life and psychological distress in individuals with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) and Complete Androgen Insensitivity Syndrome (CAIS), two syndromes belonging to the field of “disorders of sex development”. Methods: Fifty women with MRKHS and eleven individuals with CAIS participated. The German versions of the World Health Organization Quality of Life Questionnaire (short version, WHOQOL-Bref), the Brief Symptom Inventory (BSI), and the Patient Health Questionnaire (PHQ-D) were used as standardized instruments to measure quality of life and psychopathology. Additional questions concerning demographic variables and suicidality were included. Results: In both patient samples examined, general quality of life reported was in the average range (CAIS: mean z-score = ﹣0.43, SD = 1.05;MRKHS: mean z-score = ﹣0.11, SD = 1.06). The standardized instrument assessment revealed increased psychological distress (proportion of clinical cases according to the BSI: CAIS: 54.5%;MRKHS: 55.1%). A correlation between psychological distress and time span from first suspicion to diagnosis was found in women with MRKHS (Spearman’s rho = 0.35, p = 0.018). Conclusions: The results illustrate the importance of individualised and thorough diagnostics when dealing with patients with MRKHS or CAIS. Psychological distress might be an issue for these individuals and therefore should be considered in treatment and counselling.展开更多
Objective:To explore predictive hematological parameters on admission which are associated with mortality in NS1 positive dengue shock syndrome patients.Methods:Demographic characteristics,hematological parameters,and...Objective:To explore predictive hematological parameters on admission which are associated with mortality in NS1 positive dengue shock syndrome patients.Methods:Demographic characteristics,hematological parameters,and the outcome of NS1 positive dengue shock syndrome patients without any comorbidity and coexisting infections were collected from the Intensive Care Unit and the results were compared between the survivor and non-survivor groups.Results:The mean age was(30.77±11.48)years and 56(56.6%)patients were males.Out of the total 99 patients,72(72.27%)patients were successfully discharged and 27(27.27%)patients eventually succumbed to death.The most common hematological finding was thrombocytopenia(95.95%),followed by anemia(52.52%)and decreased mean platelet volume(37.37%).After controlling other variables,logistic regression analysis showed that absolute neutrophil count and mean platelet volume were associated with mortality.Conclusions:Total leucocyte count,absolute neutrophil count,and total platelet count are significantly higher,and mean platelet volume is significantly lower in the non-survivor group as compared to the survivor group.Absolute neutrophil count and mean platelet volume are predictors associated with mortality.展开更多
A full-length genome of a Chinese porcine reproductive and respiratory syndrome virus (PRRSV) isolate and designated as HB-1(sh)/2002,was sequenced and analyzed. The size of complete genome for the isolate is 15,411 n...A full-length genome of a Chinese porcine reproductive and respiratory syndrome virus (PRRSV) isolate and designated as HB-1(sh)/2002,was sequenced and analyzed. The size of complete genome for the isolate is 15,411 nucleotides obtained from a set of overlapping cDNA clones excluding poly A tail,and is comprised of 9 ORFs,two of which encode nonstructural proteins and the others encode the structural proteins. The full-length sequence of HB-1(sh)/2002 was compared with that of two Chinese isolates,BJ-4 and CH-1a.Comparative analysis presented that the complete nucleotide sequence of HB-1(sh)/2002 shared 89.8% and 96.0% identity with BJ-4 and CH-1a,respectively.Compared with the other isolates,it seemed to be more extensive in Nsp2 of nonstructural regions and ORF5 of structural coding regions,respectively.Especially,Nsp2 only shared 77.3% and 89.1% identity with BJ-4 and CH-1a.The ORF5 shared 87.0% and 93.5% identity with BJ-4 and CH-1a.Phylogenetic analysis based on Nsp2 deduced amino acid sequence suggested that HB-1(sh)/2002 belongs to the same subgroup as CH-1a, and Nsp2 can be used as basis for monitoring the genetic variation and typing the PRRSV isolates further.展开更多
文摘Mutations in the X-linked androgen receptor （AR） gene cause androgen insensitivity syndrome （AIS）, resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity （CAIS） produces a female external phenotype, whereas cases with partial androgen insensitivity （PALS） have various ambiguities of the genitalia. Mild androgen insensitivity （MAIS） is characterized by undermasculinization and gynecomastia. Here we describe a 2-month-old 46,XY female patient, with all of the characteristics of CAIS. Defects in testosterone （T） and dihydrotestosterone （DHT） synthesis were excluded. Sequencing of the AR gene showed the presence in exon 6 of a T to C transition in the second base of codon 790, nucleotide position 2369, causing a novel missense Leu790Pro mutation in the ligand-binding domain of the AR protein. The identification of a novel AR mutation in a girl with CAIS provides significant information due to the importance of missense mutations in the ligand-binding domain of the AR, which are able to induce functional abnormalities in the androgen binding capability, stabilization of active conformation, or interaction with coactivators.
文摘Objective:To explore the characteristics of bone mineral density(BMD)and treatment inChinese patients with complete androgen insensitivity syndrome(CAIS).Methods:Fourteen cases of CAIS were studied retrospectively through analyzing and compa-ring BMD of pre-and post-gonadectomy with healthy Chinese men and women.BMD at the lum-bar spine and the femur were measured by dual energy X-ray absorptiometry(DXA).Results:There were 10 cases of CAIS having pre-gonadectomy DXA,in which 6 cases hadvery significantly reduced lumbar 2-4 BMD[(0.92±0.08)g/cm^2]comparing with both healthymen and women(P<0.01),5 cases had significantly reduced femur neck BMD[(0.89±0.12)g/cm^2]comparing with healthy men(P<0.05).There were 7 cases having 12 post-gonadectomyDXA,in which all lumbar 2-4 BMD[(0.954-0.06)g/cm^2]were reduced very significantly com-paring with both healthy men and women(P<0.01),femur neck BMD[(0.91±0.08)g/cm^2]were also reduced significantly comparing with healthy men(P<0.01)and women(P<0.05).Conclusion:There were different degrees of osteopenia in patients of CAIS,especially inlumbar vertebra.This suggests that both estrogen and androgen play important roles in the ac-quirement and maintenance of peak bone mass.
文摘Purpose: This study examines quality of life and psychological distress in individuals with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) and Complete Androgen Insensitivity Syndrome (CAIS), two syndromes belonging to the field of “disorders of sex development”. Methods: Fifty women with MRKHS and eleven individuals with CAIS participated. The German versions of the World Health Organization Quality of Life Questionnaire (short version, WHOQOL-Bref), the Brief Symptom Inventory (BSI), and the Patient Health Questionnaire (PHQ-D) were used as standardized instruments to measure quality of life and psychopathology. Additional questions concerning demographic variables and suicidality were included. Results: In both patient samples examined, general quality of life reported was in the average range (CAIS: mean z-score = ﹣0.43, SD = 1.05;MRKHS: mean z-score = ﹣0.11, SD = 1.06). The standardized instrument assessment revealed increased psychological distress (proportion of clinical cases according to the BSI: CAIS: 54.5%;MRKHS: 55.1%). A correlation between psychological distress and time span from first suspicion to diagnosis was found in women with MRKHS (Spearman’s rho = 0.35, p = 0.018). Conclusions: The results illustrate the importance of individualised and thorough diagnostics when dealing with patients with MRKHS or CAIS. Psychological distress might be an issue for these individuals and therefore should be considered in treatment and counselling.
文摘Objective:To explore predictive hematological parameters on admission which are associated with mortality in NS1 positive dengue shock syndrome patients.Methods:Demographic characteristics,hematological parameters,and the outcome of NS1 positive dengue shock syndrome patients without any comorbidity and coexisting infections were collected from the Intensive Care Unit and the results were compared between the survivor and non-survivor groups.Results:The mean age was(30.77±11.48)years and 56(56.6%)patients were males.Out of the total 99 patients,72(72.27%)patients were successfully discharged and 27(27.27%)patients eventually succumbed to death.The most common hematological finding was thrombocytopenia(95.95%),followed by anemia(52.52%)and decreased mean platelet volume(37.37%).After controlling other variables,logistic regression analysis showed that absolute neutrophil count and mean platelet volume were associated with mortality.Conclusions:Total leucocyte count,absolute neutrophil count,and total platelet count are significantly higher,and mean platelet volume is significantly lower in the non-survivor group as compared to the survivor group.Absolute neutrophil count and mean platelet volume are predictors associated with mortality.
文摘A full-length genome of a Chinese porcine reproductive and respiratory syndrome virus (PRRSV) isolate and designated as HB-1(sh)/2002,was sequenced and analyzed. The size of complete genome for the isolate is 15,411 nucleotides obtained from a set of overlapping cDNA clones excluding poly A tail,and is comprised of 9 ORFs,two of which encode nonstructural proteins and the others encode the structural proteins. The full-length sequence of HB-1(sh)/2002 was compared with that of two Chinese isolates,BJ-4 and CH-1a.Comparative analysis presented that the complete nucleotide sequence of HB-1(sh)/2002 shared 89.8% and 96.0% identity with BJ-4 and CH-1a,respectively.Compared with the other isolates,it seemed to be more extensive in Nsp2 of nonstructural regions and ORF5 of structural coding regions,respectively.Especially,Nsp2 only shared 77.3% and 89.1% identity with BJ-4 and CH-1a.The ORF5 shared 87.0% and 93.5% identity with BJ-4 and CH-1a.Phylogenetic analysis based on Nsp2 deduced amino acid sequence suggested that HB-1(sh)/2002 belongs to the same subgroup as CH-1a, and Nsp2 can be used as basis for monitoring the genetic variation and typing the PRRSV isolates further.
