BACKGROUND Co-morbidity of SRY gene turner syndrome(TS)with positive SRY gene and nonclassical congenital adrenal hyperplasia(NCAH)is extremely rare and has never been reported to date.CASE SUMMARY In this article,we ...BACKGROUND Co-morbidity of SRY gene turner syndrome(TS)with positive SRY gene and nonclassical congenital adrenal hyperplasia(NCAH)is extremely rare and has never been reported to date.CASE SUMMARY In this article,we present a 14-year-old girl who was referred to our hospital with short stature(weight of 43 kg and height of 143 cm,<-2 SD)with no secondary sexual characteristics(labia minora dysplasia).Laboratory tests indicated hypergonadotropic hypogonadism with significantly increased androstenedione and 17-hydroxyprogesterone(17-OHP)levels.This was accompanied by the thickening of the extremity of the left adrenal medial limb.The patient’s karyotype was 45,X/46,X,+mar,and cytogenetic analysis using multiplex ligation-dependent probe amplification and high-throughput sequencing indicated that the SRY gene was positive with compound heterozygous mutations in CYP21A2 as the causative gene for congenital adrenal hyperplasia.The sites of the suspected candidate mutations were amplified and verified using Sanger sequencing.The patient was finally diagnosed as having SRY positive TS with NCAH.The patient and her family initially refused medical treatment.At her most recent follow-up visit(age=15 years old),the patient presented facial hair,height increase to 148 cm,and weight of 52 kg,while androstenedione and 17-OHP levels remained high.The patient was finally willing to take small doses of hydrocortisone(10 mg/d).CONCLUSIONIn conclusion, upon evaluation of the patient mentioned in the report, we feel that17-OHP measurement and cytogenetic analysis are necessary for TS patients evenin the absence of significant virilization signs. This will play a significant role inguiding diagnosis and treatment.展开更多
Dear editor,Here we report a rare case of a patient presented with repeated hypokalemia and metabolic acidosis secondary to primary Sjögren’s syndrome(pSS).Though no significantly raised titers of anti-SSA/SSB a...Dear editor,Here we report a rare case of a patient presented with repeated hypokalemia and metabolic acidosis secondary to primary Sjögren’s syndrome(pSS).Though no significantly raised titers of anti-SSA/SSB antibodies was detected in our case,minor salivary gland biopsy,kidney biopsy and positive Schirmer’s test confirmed the diagnosis of pSS.展开更多
Intrahepatic cholestasis of pregnancy(ICP)is related to cholestatic disorder in pregnancy.Total urinary sulfated bile acids(SBAs)were found increased in ICP.We distinguished the metabolic profiling of urinary SBAs in ...Intrahepatic cholestasis of pregnancy(ICP)is related to cholestatic disorder in pregnancy.Total urinary sulfated bile acids(SBAs)were found increased in ICP.We distinguished the metabolic profiling of urinary SBAs in ICP to find potential biomarkers for the diagnosis and grading of ICP.The targeted metabolomics based on high-performance liquid chromatography-tandem mass spectrometry(HPLC-MS/MS)was used to analyze urinary SBAs profiling in mild and severe ICP cases,as well as healthy controls.16 kinds of urinary SBAs were determined by HPLC-MS/MS.Sulfated dihydroxy glycine bile acid(di-GBA-S),glycine cholic acid 3-sulfate(GCA-3S),sulfated dihydroxy taurine bile acid(di-TBA-S)and taurine cholic acid 3-sulfate(TCA-3S)increased significantly in ICP group compared with the control group.Seven kinds of SBAs were significantly different(p<0.05)between the ICP group and the control group,with the variable importance in the projection(VIP)value more than one by the orthogonal partial least squares discriminant analysis(OPLS-DA).GCA-3S was well-suited to be used as the biomarker for the diagnosis of ICP with the sensitivity of 100%and specificity of 95.5%.A multi-variable logistic regression containing GCA-3S and di-GBA-S-1 was constructed to distinguish severe ICP from mild ICP,with the sensitivity of 94.4%and specificity of 100%.The developed HPLC-MS/MS method is suitable for the measurement of urinary SBAs profiling.Moreover,the urinary SBAs in the metabolomic profiling have the potential to be used as non-intrusive biomarkers for the diagnosis and grading of ICP.展开更多
To the Editor:Identifying the pathogen from clinical samples is crucial for the diagnosis of a newly emergent infectious disease,such as 2019 novel coronavirus(2019-nCoV).which has posed great threats to global public...To the Editor:Identifying the pathogen from clinical samples is crucial for the diagnosis of a newly emergent infectious disease,such as 2019 novel coronavirus(2019-nCoV).which has posed great threats to global public health.[1]In some cases,despite the positive epidemiological,clinical,and radiographic evidence,coronavirus disease 2019(COVID-19)diagnosis can still be restricted by inconclusive polymerase chain reaction(PCR)results.[2]For samples of suspicious patients,where the fluorescence quantitative PCR(FQ-PCR)results in a few respiratory tract specimens were inconclusive,high-throughput sequencing(HTS)can be an effective confirmation method.Here,we report our experience of applying HTS to confirm a suspected 2019-nCoV infection.展开更多
The outbreak of the 2019 novel coronavirus disease(COVID-19)has had a significant impact on global health.To advance the diagnostic method of COVID-19,we developed a CRISPR/Cas12a-based assay with a naked eye readout,...The outbreak of the 2019 novel coronavirus disease(COVID-19)has had a significant impact on global health.To advance the diagnostic method of COVID-19,we developed a CRISPR/Cas12a-based assay with a naked eye readout,CRISPR/Cas12a-NER.The assay can detect as few as 10 copies of the virus gene in 45 min without a special instrument and has good consistency with the qPCR assay,providing a simple and reliable on-site diagnostic method suitable for a local hospital or community testing.展开更多
Legionella is a causative agent of legionellosis or Legionnaires’disease.Infection with Legionella spp.is an important cause of community and hospital-acquired pneumonia.Moreover,infection with Legionella is one of t...Legionella is a causative agent of legionellosis or Legionnaires’disease.Infection with Legionella spp.is an important cause of community and hospital-acquired pneumonia.Moreover,infection with Legionella is one of the most common causes of severe pneumonia in community settings,and Legionella is isolated in 40%of hospital-acquired pneumonia cases.The clinical features of legionellosis or Legionnaires’disease are not unique,which makes the diagnosis challenging.Macrolides andfluoroquinolones are the most widely used drugs in treatment.Early recognition,treatment and effective measures for prevention and control of the disease are important and required.Although there have been a lot of methods for diagnosis of Legionella infection,they were often time-consuming or complex,not suitable for clinical purposes.This review summarizes available information regarding the microbiology,taxonomy,epidemiology,pathogenesis and diagnosis of Legionnaires’disease,with an emphasis on the laboratory diagnosis of infection with Legionella spp.展开更多
One hundred andfifty-three isolates from the environment and 36 reference strains of the Legionella were studied with regards to their composition of cellular fatty acids as determined by gas chromatography,and then we...One hundred andfifty-three isolates from the environment and 36 reference strains of the Legionella were studied with regards to their composition of cellular fatty acids as determined by gas chromatography,and then were classified into 41 groups by numerical analysis.Most reference strains formed only a single group,except L.micdadei,L.jamestowniensis,L.parisiensis,L.jorda-nis,L.feeleii and L.longbeachae,which were clustered into two or three groups.Even serological types of L.pneumophila could be clearly identified.Therefore,in this study,numerical analysis of cellular fatty acid composition is an effective method for identifying Legionella species.展开更多
文摘BACKGROUND Co-morbidity of SRY gene turner syndrome(TS)with positive SRY gene and nonclassical congenital adrenal hyperplasia(NCAH)is extremely rare and has never been reported to date.CASE SUMMARY In this article,we present a 14-year-old girl who was referred to our hospital with short stature(weight of 43 kg and height of 143 cm,<-2 SD)with no secondary sexual characteristics(labia minora dysplasia).Laboratory tests indicated hypergonadotropic hypogonadism with significantly increased androstenedione and 17-hydroxyprogesterone(17-OHP)levels.This was accompanied by the thickening of the extremity of the left adrenal medial limb.The patient’s karyotype was 45,X/46,X,+mar,and cytogenetic analysis using multiplex ligation-dependent probe amplification and high-throughput sequencing indicated that the SRY gene was positive with compound heterozygous mutations in CYP21A2 as the causative gene for congenital adrenal hyperplasia.The sites of the suspected candidate mutations were amplified and verified using Sanger sequencing.The patient was finally diagnosed as having SRY positive TS with NCAH.The patient and her family initially refused medical treatment.At her most recent follow-up visit(age=15 years old),the patient presented facial hair,height increase to 148 cm,and weight of 52 kg,while androstenedione and 17-OHP levels remained high.The patient was finally willing to take small doses of hydrocortisone(10 mg/d).CONCLUSIONIn conclusion, upon evaluation of the patient mentioned in the report, we feel that17-OHP measurement and cytogenetic analysis are necessary for TS patients evenin the absence of significant virilization signs. This will play a significant role inguiding diagnosis and treatment.
基金supported by a research grant from the Medical Science and Technology Projects of Zhejiang Province,China(2018KY421).
文摘Dear editor,Here we report a rare case of a patient presented with repeated hypokalemia and metabolic acidosis secondary to primary Sjögren’s syndrome(pSS).Though no significantly raised titers of anti-SSA/SSB antibodies was detected in our case,minor salivary gland biopsy,kidney biopsy and positive Schirmer’s test confirmed the diagnosis of pSS.
基金The present work was supported by the Chongqing Postdoctoral Science Foundation(Xm201313)National Natural Science Foundation of China(81471473)Research Fund for the Doctoral Program of Higher Education of China(20115503110013).
文摘Intrahepatic cholestasis of pregnancy(ICP)is related to cholestatic disorder in pregnancy.Total urinary sulfated bile acids(SBAs)were found increased in ICP.We distinguished the metabolic profiling of urinary SBAs in ICP to find potential biomarkers for the diagnosis and grading of ICP.The targeted metabolomics based on high-performance liquid chromatography-tandem mass spectrometry(HPLC-MS/MS)was used to analyze urinary SBAs profiling in mild and severe ICP cases,as well as healthy controls.16 kinds of urinary SBAs were determined by HPLC-MS/MS.Sulfated dihydroxy glycine bile acid(di-GBA-S),glycine cholic acid 3-sulfate(GCA-3S),sulfated dihydroxy taurine bile acid(di-TBA-S)and taurine cholic acid 3-sulfate(TCA-3S)increased significantly in ICP group compared with the control group.Seven kinds of SBAs were significantly different(p<0.05)between the ICP group and the control group,with the variable importance in the projection(VIP)value more than one by the orthogonal partial least squares discriminant analysis(OPLS-DA).GCA-3S was well-suited to be used as the biomarker for the diagnosis of ICP with the sensitivity of 100%and specificity of 95.5%.A multi-variable logistic regression containing GCA-3S and di-GBA-S-1 was constructed to distinguish severe ICP from mild ICP,with the sensitivity of 94.4%and specificity of 100%.The developed HPLC-MS/MS method is suitable for the measurement of urinary SBAs profiling.Moreover,the urinary SBAs in the metabolomic profiling have the potential to be used as non-intrusive biomarkers for the diagnosis and grading of ICP.
基金This work was supported by grants from the National Key Research and Development Program of China(Nos.2018YFC1200100 and 2018YFC1311900)science research project of the Guangdong Province(No.2019B030316028)Guangzhou Medical University High-level University Clinical Research and Cultivation Program(Nos.[2017]159 and 160).
文摘To the Editor:Identifying the pathogen from clinical samples is crucial for the diagnosis of a newly emergent infectious disease,such as 2019 novel coronavirus(2019-nCoV).which has posed great threats to global public health.[1]In some cases,despite the positive epidemiological,clinical,and radiographic evidence,coronavirus disease 2019(COVID-19)diagnosis can still be restricted by inconclusive polymerase chain reaction(PCR)results.[2]For samples of suspicious patients,where the fluorescence quantitative PCR(FQ-PCR)results in a few respiratory tract specimens were inconclusive,high-throughput sequencing(HTS)can be an effective confirmation method.Here,we report our experience of applying HTS to confirm a suspected 2019-nCoV infection.
基金This work was supported by internal grants from Shanghai Tech UniversityState Key Laboratory of Respiratory Diseases+3 种基金Shanghai Local GrantsNational Clinical Research Center for Respiratory DiseaseGuangzhou Institute of Respiratory Healththe First Affiliated Hospital of Guangzhou Medical University。
文摘The outbreak of the 2019 novel coronavirus disease(COVID-19)has had a significant impact on global health.To advance the diagnostic method of COVID-19,we developed a CRISPR/Cas12a-based assay with a naked eye readout,CRISPR/Cas12a-NER.The assay can detect as few as 10 copies of the virus gene in 45 min without a special instrument and has good consistency with the qPCR assay,providing a simple and reliable on-site diagnostic method suitable for a local hospital or community testing.
基金supported by the National Standardization Committee(No.20081021-T-361)the Ministry of Science and Technology of China(No.2008ZX10004-006).
文摘Legionella is a causative agent of legionellosis or Legionnaires’disease.Infection with Legionella spp.is an important cause of community and hospital-acquired pneumonia.Moreover,infection with Legionella is one of the most common causes of severe pneumonia in community settings,and Legionella is isolated in 40%of hospital-acquired pneumonia cases.The clinical features of legionellosis or Legionnaires’disease are not unique,which makes the diagnosis challenging.Macrolides andfluoroquinolones are the most widely used drugs in treatment.Early recognition,treatment and effective measures for prevention and control of the disease are important and required.Although there have been a lot of methods for diagnosis of Legionella infection,they were often time-consuming or complex,not suitable for clinical purposes.This review summarizes available information regarding the microbiology,taxonomy,epidemiology,pathogenesis and diagnosis of Legionnaires’disease,with an emphasis on the laboratory diagnosis of infection with Legionella spp.
基金supported by the National Standardization Committee of China(No.20081021-T-361)the Ministry of Science and Technology of the People’s Republic of Chinathe National High Technology Grant(No.2008ZX10004-006).
文摘One hundred andfifty-three isolates from the environment and 36 reference strains of the Legionella were studied with regards to their composition of cellular fatty acids as determined by gas chromatography,and then were classified into 41 groups by numerical analysis.Most reference strains formed only a single group,except L.micdadei,L.jamestowniensis,L.parisiensis,L.jorda-nis,L.feeleii and L.longbeachae,which were clustered into two or three groups.Even serological types of L.pneumophila could be clearly identified.Therefore,in this study,numerical analysis of cellular fatty acid composition is an effective method for identifying Legionella species.
