BACKGROUND Thyroxine-binding globulin(TBG;the gene product of SERPINA7)is the main transporter of thyroid hormones in humans.Mutations in the TBG gene may lead to inherited TBG deficiency.There have been 28 reported m...BACKGROUND Thyroxine-binding globulin(TBG;the gene product of SERPINA7)is the main transporter of thyroid hormones in humans.Mutations in the TBG gene may lead to inherited TBG deficiency.There have been 28 reported mutations that associate with complete TBG deficiency(TBG-CD).Here we identified a novel frameshift mutation causing early termination of the TBG protein and TBG-CD in a Chinese family.CASE SUMMARY A 46-year-old Chinese man was referred to our hospital with normal free thyroxine,free triiodothyronine,thyrotropin,but lower total thyroxine and total triiodothyronine,and undetectable serum TBG,indicative of TBG-CD.Blood samples were obtained from the patient’s family members and thyroid function and serum TBG were evaluated.Genomic DNA from peripheral blood was sequenced to detect possible TBG mutation(s).Quantitative PCR high-resolution melting curve analysis was used to screen TBG-Poly(L283F)among 117 Chinese men.A novel mutation of TBG(p.Phe135Alafs*21),a 19-nucleotide insertion in exon 1,was identified,which resulted in a truncated TBG protein product and caused TBG-CD.The other mutation,identified in the proband’s father,is a known polymorphism,TBG-Poly(L283F).The frequency of the TBG-Poly allele among 117 unrelated Han Chinese men from northeast China was 21.37%.CONCLUSION A novel mutation in the TBG gene associated with the TBG-CD phenotype was identified in a Chinese family.Additionally,it was found that 21.37%of Chinese males had TBG-Poly(L283F).展开更多
Objective:The clinical features and test results of 2019-nCoV pneumonia(COVID-19)were analyzed retrospectively in order to understand the diagnostic significance of clinical test index,and to summarize the experience ...Objective:The clinical features and test results of 2019-nCoV pneumonia(COVID-19)were analyzed retrospectively in order to understand the diagnostic significance of clinical test index,and to summarize the experience of clinical treatment.Methods:From February 10thto February 28th,2020,54 patients with COVID-19 from Wuhan Red Cross hospital were included,whose clinical data were analyzed and integrated.The clinical manifestation and laboratory examination were analyzed by descriptive statistical analysis.Results:The average age of the patients was 63.9 years(40–84 years).The median time from onset to diagnosis was 6.5 days(2–20 days),and the median time from onset to first hospitalization was 8 days(3–20 days).The main manifestations were that the percentage of neutrophil increased and the number of lymphocyte decreased in most cases.Most of them were combined with liver damage and myocardial cell damage,and chest CT showed lesion of bilateral lung.Conclusion:In addition to the nucleic acid test of 2019-nCoV,some laboratory tests may indicate COVID-19 in the early stages.The clinician may conduct repeated follow-up examinations to assess the progress and outcome of the disease.展开更多
基金Supported by the National Natural Science Foundation of China,No.81570711National Clinical Key College Fund and the Key Platform Foundation of Science and Technology for the Universities in Liaoning Province,No.16010
文摘BACKGROUND Thyroxine-binding globulin(TBG;the gene product of SERPINA7)is the main transporter of thyroid hormones in humans.Mutations in the TBG gene may lead to inherited TBG deficiency.There have been 28 reported mutations that associate with complete TBG deficiency(TBG-CD).Here we identified a novel frameshift mutation causing early termination of the TBG protein and TBG-CD in a Chinese family.CASE SUMMARY A 46-year-old Chinese man was referred to our hospital with normal free thyroxine,free triiodothyronine,thyrotropin,but lower total thyroxine and total triiodothyronine,and undetectable serum TBG,indicative of TBG-CD.Blood samples were obtained from the patient’s family members and thyroid function and serum TBG were evaluated.Genomic DNA from peripheral blood was sequenced to detect possible TBG mutation(s).Quantitative PCR high-resolution melting curve analysis was used to screen TBG-Poly(L283F)among 117 Chinese men.A novel mutation of TBG(p.Phe135Alafs*21),a 19-nucleotide insertion in exon 1,was identified,which resulted in a truncated TBG protein product and caused TBG-CD.The other mutation,identified in the proband’s father,is a known polymorphism,TBG-Poly(L283F).The frequency of the TBG-Poly allele among 117 unrelated Han Chinese men from northeast China was 21.37%.CONCLUSION A novel mutation in the TBG gene associated with the TBG-CD phenotype was identified in a Chinese family.Additionally,it was found that 21.37%of Chinese males had TBG-Poly(L283F).
文摘Objective:The clinical features and test results of 2019-nCoV pneumonia(COVID-19)were analyzed retrospectively in order to understand the diagnostic significance of clinical test index,and to summarize the experience of clinical treatment.Methods:From February 10thto February 28th,2020,54 patients with COVID-19 from Wuhan Red Cross hospital were included,whose clinical data were analyzed and integrated.The clinical manifestation and laboratory examination were analyzed by descriptive statistical analysis.Results:The average age of the patients was 63.9 years(40–84 years).The median time from onset to diagnosis was 6.5 days(2–20 days),and the median time from onset to first hospitalization was 8 days(3–20 days).The main manifestations were that the percentage of neutrophil increased and the number of lymphocyte decreased in most cases.Most of them were combined with liver damage and myocardial cell damage,and chest CT showed lesion of bilateral lung.Conclusion:In addition to the nucleic acid test of 2019-nCoV,some laboratory tests may indicate COVID-19 in the early stages.The clinician may conduct repeated follow-up examinations to assess the progress and outcome of the disease.
