BACKGROUND Maple syrup urine disease(MSUD)is a rare autosomal-recessive disorder that affects branched-chain amino acid(BCAA)metabolism and is named after the distinctive sweet odor of affected infants’urine.This dis...BACKGROUND Maple syrup urine disease(MSUD)is a rare autosomal-recessive disorder that affects branched-chain amino acid(BCAA)metabolism and is named after the distinctive sweet odor of affected infants’urine.This disease is characterized by the accumulation of BCAAs and corresponding branched-chain ketoacids of leucine,isoleucine,and valine in the plasma,urine,and cerebrospinal fluid.However,the mechanisms of MSUD-induced brain damage remain poorly defined.The accumulation of BCAAs in the brain inhibits the activity of pyruvate dehydrogenase andα-ketoglutarate,disrupting the citric acid cycle and consequently impacting the synthesis of amino acids,causing cerebral edema and abnormal myelination.CASE SUMMARY We report three neonates admitted to our hospital with the classic subtype of MSUD.All three patients,with a transient normal period,presented with poor feeding,vomiting,poor weight gain,and increasing lethargy after birth.Laboratory testing revealed metabolic acidosis.The serum tandem mass spectrometry amino acid profile showed elevated plasma levels of BCAAs(leucine,isoleucine,and valine).Brain magnetic resonance imaging(MRI)presented abnormal signals mainly involving the globus pallidus,thalamus,internal capsule,brainstem,and cerebellar white matter,which represent the typical myelinated areas in normal full-term neonates.CONCLUSION In our patients,MRI showed typical features,in concordance with the available literature.Early detection and timely treatment are very helpful for the prognosis of MSUD patients.Therefore,we discuss the neuroimaging features of MSUD to enhance the knowledge of pediatricians about this disease.展开更多
Objective To observe the effect of San-Ao Decoction(三拗汤,SAD)on water metabolism of bronchial asthra model mice.Methods Forty-five female BALB/c mice were randomly divided into control,model and SAD groups by a rand...Objective To observe the effect of San-Ao Decoction(三拗汤,SAD)on water metabolism of bronchial asthra model mice.Methods Forty-five female BALB/c mice were randomly divided into control,model and SAD groups by a random number table,15 mice in each group.A composite method with ovalbumin(OVA)sensitization and challenge was developed to establish bronchial asthma model.Mice in the control group were intraperitoneally injected with distilled water without aerosol inhalation challenge.On day 15–22,0.3 mL SAD was administered via gastric route in SAD group,one time per day,while an equivalent volume of normal saline was used for gastric administration in the control and model groups.Changes in airway resistance in the inspiratory phase(RI-R-Area)were detected using an AniRes2005 system,and 5-h urine output was collected by metabolic cages.Histopathological changes in lung and kidney were observed by hematoxylin-eosin staining.mRNA expressions of aquaporin(AQP)1 and AQP2 in kidney were detected by reverse transcription-polymerase chain reaction,and the protein expressions of AQP1 and AQP2 in kidney were detected by immunohistochemistry.Enzyme-linked immune sorbent assay was used to detect the OVA-specific endothelium-1(ET-1),antidiuretic hormone(ADH),atrial natriuretic peptide(ANP),prostaglandin E_(2)(PGE_(2)),and angiotensin II(Ang II)levels in serum,lung and kidney tissues,respectively.The nitric oxide(NO)contents in serum,lung,and kidney tissues were tested by chemical method,respectively.Results Compared with the control group,the serum IgE level in model group increased(P<0.01).Following the pathologic changes in lung tissue,no significant change in kidney tissue was observed among 3 groups.Compared with the control group,the mice in the model group showed elevated airway resistance during inhalation phase,higher mRNA and protein expression levels on AQP1 and AQP2 in kidney tissue and higher ET-1 levels in serum,lung and kidney tissues,ADH and ANP in lung and serum,PGE_(2) in kidney,Ang II in lung and kidney展开更多
目的建立一种尿液中9种苯二氮?类药物的超分子溶剂样品气相色谱-串联质谱(gas chromatography-tandem mass spectrometry,GC-MS/MS)分析方法。方法含9种苯二氮?类药物对照品的尿液样品用四氢呋喃和1-己醇组成的超分子溶剂进行液液萃取,...目的建立一种尿液中9种苯二氮?类药物的超分子溶剂样品气相色谱-串联质谱(gas chromatography-tandem mass spectrometry,GC-MS/MS)分析方法。方法含9种苯二氮?类药物对照品的尿液样品用四氢呋喃和1-己醇组成的超分子溶剂进行液液萃取,取溶剂层氮吹至干,残余物用甲醇复溶后进行GC-MS/MS分析,数据采集方式为多反应监测模式,采用内标法定量。结果尿液中地西泮、咪达唑仑、氟硝西泮和氯氮平质量浓度在1~100ng/mL,劳拉西泮和阿普唑仑质量浓度在5~100ng/mL,硝西泮和氯硝西泮质量浓度在2~100ng/mL,艾司唑仑在质量浓度0.2~100ng/mL范围内具有良好的线性关系,相关系数为0.9991~0.9999,定量下限为0.2~5ng/mL,提取回收率为81.12%~99.52%,日内精密度[相对标准偏差(relative standard deviation,RSD)]和准确度(偏倚)分别小于9.86%、9.51%;日间精密度(RSD)和准确度(偏倚)分别小于8.74%、9.98%。室温和-20℃条件下,尿液中9种药物在15d内具有良好的稳定性。8名志愿者单摄口服阿普唑仑片后,在8~72h内尿液中阿普唑仑的质量浓度为6.54~88.28ng/mL。结论本研究建立的尿液中9种苯二氮?类药物的超分子溶剂萃取-GC-MS/MS分析方法,简便、快速、准确、灵敏,可为临床治疗及司法鉴定中苯二氮?类药物中毒监测提供技术支持。展开更多
Objective:To investigate the activity concentration of tritium in urine of nuclear power plant(NPP)workers,in order to evaluate the occupational exposure levels.Methods:Three chosen NPPs were respectively located in s...Objective:To investigate the activity concentration of tritium in urine of nuclear power plant(NPP)workers,in order to evaluate the occupational exposure levels.Methods:Three chosen NPPs were respectively located in southern,southeastern and northeastern China.Workers involved in operating,service,nuclear cleaning,chemical analysis,health physics,technical support,among others were randomly selected as the research targets,and 69 urine samples of no less than 50 mL were collected.The oxidative distillation method was used to pretreat the urine samples,and the activity concentration of tritium in distillate was then measured using liquid scintillation counter.The formula for the committed effective dose was also applied used to estimate the internal doses.Results:The highest tritium activity concentrations in urine samples from three NPPs were 2412.7,6351.4,and 478.7 Bq/L,respectively.Correspondingly,the internal doses due to tritium intake were 1.8,4.8 and 0.4μSv,respectively.Conclusions:The urine tritium activity concentration of workers varied greatly dependent on their job categories.The values for urine tritium radioactivity concentrations of workers involved in health care,nuclear cleaning and maintenance were generally higher than those for other job categories.The difference in urine tritium activity concentration mainly came from the different exposure time and tritium concentrations.From the dose assessment results,the internal dose caused by tritium intake did not exceed the public annual effective dose limit.展开更多
文摘BACKGROUND Maple syrup urine disease(MSUD)is a rare autosomal-recessive disorder that affects branched-chain amino acid(BCAA)metabolism and is named after the distinctive sweet odor of affected infants’urine.This disease is characterized by the accumulation of BCAAs and corresponding branched-chain ketoacids of leucine,isoleucine,and valine in the plasma,urine,and cerebrospinal fluid.However,the mechanisms of MSUD-induced brain damage remain poorly defined.The accumulation of BCAAs in the brain inhibits the activity of pyruvate dehydrogenase andα-ketoglutarate,disrupting the citric acid cycle and consequently impacting the synthesis of amino acids,causing cerebral edema and abnormal myelination.CASE SUMMARY We report three neonates admitted to our hospital with the classic subtype of MSUD.All three patients,with a transient normal period,presented with poor feeding,vomiting,poor weight gain,and increasing lethargy after birth.Laboratory testing revealed metabolic acidosis.The serum tandem mass spectrometry amino acid profile showed elevated plasma levels of BCAAs(leucine,isoleucine,and valine).Brain magnetic resonance imaging(MRI)presented abnormal signals mainly involving the globus pallidus,thalamus,internal capsule,brainstem,and cerebellar white matter,which represent the typical myelinated areas in normal full-term neonates.CONCLUSION In our patients,MRI showed typical features,in concordance with the available literature.Early detection and timely treatment are very helpful for the prognosis of MSUD patients.Therefore,we discuss the neuroimaging features of MSUD to enhance the knowledge of pediatricians about this disease.
基金the National Natural Science Foundation(No.81373503)。
文摘Objective To observe the effect of San-Ao Decoction(三拗汤,SAD)on water metabolism of bronchial asthra model mice.Methods Forty-five female BALB/c mice were randomly divided into control,model and SAD groups by a random number table,15 mice in each group.A composite method with ovalbumin(OVA)sensitization and challenge was developed to establish bronchial asthma model.Mice in the control group were intraperitoneally injected with distilled water without aerosol inhalation challenge.On day 15–22,0.3 mL SAD was administered via gastric route in SAD group,one time per day,while an equivalent volume of normal saline was used for gastric administration in the control and model groups.Changes in airway resistance in the inspiratory phase(RI-R-Area)were detected using an AniRes2005 system,and 5-h urine output was collected by metabolic cages.Histopathological changes in lung and kidney were observed by hematoxylin-eosin staining.mRNA expressions of aquaporin(AQP)1 and AQP2 in kidney were detected by reverse transcription-polymerase chain reaction,and the protein expressions of AQP1 and AQP2 in kidney were detected by immunohistochemistry.Enzyme-linked immune sorbent assay was used to detect the OVA-specific endothelium-1(ET-1),antidiuretic hormone(ADH),atrial natriuretic peptide(ANP),prostaglandin E_(2)(PGE_(2)),and angiotensin II(Ang II)levels in serum,lung and kidney tissues,respectively.The nitric oxide(NO)contents in serum,lung,and kidney tissues were tested by chemical method,respectively.Results Compared with the control group,the serum IgE level in model group increased(P<0.01).Following the pathologic changes in lung tissue,no significant change in kidney tissue was observed among 3 groups.Compared with the control group,the mice in the model group showed elevated airway resistance during inhalation phase,higher mRNA and protein expression levels on AQP1 and AQP2 in kidney tissue and higher ET-1 levels in serum,lung and kidney tissues,ADH and ANP in lung and serum,PGE_(2) in kidney,Ang II in lung and kidney
文摘目的建立一种尿液中9种苯二氮?类药物的超分子溶剂样品气相色谱-串联质谱(gas chromatography-tandem mass spectrometry,GC-MS/MS)分析方法。方法含9种苯二氮?类药物对照品的尿液样品用四氢呋喃和1-己醇组成的超分子溶剂进行液液萃取,取溶剂层氮吹至干,残余物用甲醇复溶后进行GC-MS/MS分析,数据采集方式为多反应监测模式,采用内标法定量。结果尿液中地西泮、咪达唑仑、氟硝西泮和氯氮平质量浓度在1~100ng/mL,劳拉西泮和阿普唑仑质量浓度在5~100ng/mL,硝西泮和氯硝西泮质量浓度在2~100ng/mL,艾司唑仑在质量浓度0.2~100ng/mL范围内具有良好的线性关系,相关系数为0.9991~0.9999,定量下限为0.2~5ng/mL,提取回收率为81.12%~99.52%,日内精密度[相对标准偏差(relative standard deviation,RSD)]和准确度(偏倚)分别小于9.86%、9.51%;日间精密度(RSD)和准确度(偏倚)分别小于8.74%、9.98%。室温和-20℃条件下,尿液中9种药物在15d内具有良好的稳定性。8名志愿者单摄口服阿普唑仑片后,在8~72h内尿液中阿普唑仑的质量浓度为6.54~88.28ng/mL。结论本研究建立的尿液中9种苯二氮?类药物的超分子溶剂萃取-GC-MS/MS分析方法,简便、快速、准确、灵敏,可为临床治疗及司法鉴定中苯二氮?类药物中毒监测提供技术支持。
基金This work was supported by Environmental Radioactivity Research Network Center(Japan,Grant Number:I-20-15)the Key Program of Tianjin Municipal Natural Science Foundation(China,Grant Number:19JCZDJC40500).
文摘Objective:To investigate the activity concentration of tritium in urine of nuclear power plant(NPP)workers,in order to evaluate the occupational exposure levels.Methods:Three chosen NPPs were respectively located in southern,southeastern and northeastern China.Workers involved in operating,service,nuclear cleaning,chemical analysis,health physics,technical support,among others were randomly selected as the research targets,and 69 urine samples of no less than 50 mL were collected.The oxidative distillation method was used to pretreat the urine samples,and the activity concentration of tritium in distillate was then measured using liquid scintillation counter.The formula for the committed effective dose was also applied used to estimate the internal doses.Results:The highest tritium activity concentrations in urine samples from three NPPs were 2412.7,6351.4,and 478.7 Bq/L,respectively.Correspondingly,the internal doses due to tritium intake were 1.8,4.8 and 0.4μSv,respectively.Conclusions:The urine tritium activity concentration of workers varied greatly dependent on their job categories.The values for urine tritium radioactivity concentrations of workers involved in health care,nuclear cleaning and maintenance were generally higher than those for other job categories.The difference in urine tritium activity concentration mainly came from the different exposure time and tritium concentrations.From the dose assessment results,the internal dose caused by tritium intake did not exceed the public annual effective dose limit.