BACKGROUND X-linked agammaglobulinemia is a primary immunodeficiency disease caused by gene mutations of Bruton’s tyrosine kinase(BTK).We found a new mutation point and summarized the correlation analysis and perform...BACKGROUND X-linked agammaglobulinemia is a primary immunodeficiency disease caused by gene mutations of Bruton’s tyrosine kinase(BTK).We found a new mutation point and summarized the correlation analysis and performed a literature review.CASE SUMMARY The proband was a 5-year-old boy.He was admitted to our hospital due to a recurrent cough and a fever that had persisted for a month.He had a history of multiple respiratory infections and sinusitis.There was no immunodeficiency or recurrent infection history among his family members.Agammaglobulinemia was characterized as follows:Immunoglobulin(Ig)A,90.0 mg/dL(90-450 mg/dL);IgG,20.0 mg/dL(800-1800 mg/dL);and IgM,18.0 mg/dL(60-280 mg/dL).Notably,the assessment of IgG subtypes revealed the following very low levels:Subtype 1,0.26 g/L(3.62-12.28 g/L);subtype 2,0.10 g/L(0.57-2.9 g/L);subtype 3,0.009 g/L(0.129-0.789 g/L);and subtype 4,0.003 g/L(0.013-1.446 g/L).Cellular immunological test results were as follows:CD3,74.6%(50%-84.0%);CD4,47.3%(27.0%-51.0%);and CD8,24.9%(15.0%-44.0%).A de novo hemizygous deletion in BTK was detected:c.902_c.904delAAG/p.E301del.Transcript levels of the mutant BTK were similar to those of the wild-type gene,though overexpression resulted in markedly reduced levels of mutant BTK(9.49%±1.58%),relative to the wildtype BTK(75.8%±2.98%,P<0.01).CONCLUSION This case of X-linked agammaglobulinemia was attributed to a de novo hemizygous deletion mutation in BTK(c.902_c.904delAAG/p.E301del).The mutation resulted in markedly reduced BTK protein stability in vitro.展开更多
BACKGROUND Congenital biliary atresia(CBA)is a serious hepatobiliary disease in children with unknown etiology.Its outcome is often liver transplantation or death.Clarifying the etiology of CBA is of great significanc...BACKGROUND Congenital biliary atresia(CBA)is a serious hepatobiliary disease in children with unknown etiology.Its outcome is often liver transplantation or death.Clarifying the etiology of CBA is of great significance for prognosis,treatment,and genetic counseling.CASE SUMMARY A male Chinese infant at an age of 6 mo and 24 d was hospitalized because of"yellow skin for more than 6 mo".Soon after birth,the patient developed jaundice,which then progressively intensified.A"laparoscopic exploration"indicated"biliary atresia".After coming to our hospital,genetic testing suggested a GPC1mutation[loss 1(exons 6-7)].The patient recovered and was discharged after living donor liver transplantation.After discharge,the patient was followed up.The condition was controlled by oral drugs,and the patient’s condition was stable.CONCLUSION CBA is a complex disease with a complex etiology.Clarifying the etiology is of great clinical importance for treatment and prognosis.This case reports CBA caused by a GPC1 mutation,which enriches the genetic etiology of biliary atresia.However,its specific mechanism needs to be confirmed by further research.展开更多
目的:探讨彩色多普勒超声对血液透析(HD)患者动静脉内瘘结构功能评估及并发症诊断的应用价值。方法:接受HD治疗的80例终末期肾病患者,均采用自体动静脉吻合内瘘(AVF)。先用二维超声观察AVF,然后用彩色多普勒超声定期测量AVF的血流动力...目的:探讨彩色多普勒超声对血液透析(HD)患者动静脉内瘘结构功能评估及并发症诊断的应用价值。方法:接受HD治疗的80例终末期肾病患者,均采用自体动静脉吻合内瘘(AVF)。先用二维超声观察AVF,然后用彩色多普勒超声定期测量AVF的血流动力和管径变化,记录AVF血流通畅状况和相关并发症。结果:彩色多普勒超声测量显示:术后2周、4周、6周时桡动脉管径(RAD)、肱动脉血流量和头静脉管径(CVD)呈逐渐上升趋势,和术前比较有显著提高,差异有统计学意义( P <0.01)。根据AVF血流情况和超声图像信息,明确诊断AVF血流通畅51例(63.75%);并发症方面:血栓形成13例(16.25%)、动静脉瘘狭窄11例(13.75%)和静脉瘤状扩张5例(6.25%)。结论:彩色多普勒超声能动态定量观察HD患者AVF血管管径和血流情况,对临床评估AVF结构功能、并发症诊断及其防治均有显著价值。展开更多
Two new C-glycosylflavones were isolated from the whole plant of Mimosa pudica, and their structures were determined as 6,7,3＇,4＇-tetrahydroxyl-8-C-[α-L-rhamnopyranosyl-（1 → 2）]-β-D-glucopyranosyl flavone （1）...Two new C-glycosylflavones were isolated from the whole plant of Mimosa pudica, and their structures were determined as 6,7,3＇,4＇-tetrahydroxyl-8-C-[α-L-rhamnopyranosyl-（1 → 2）]-β-D-glucopyranosyl flavone （1）, 5,7,3＇,4＇-tetrahydroxy-8-C[β-D- apiose-（1 → 4）]-β-D-glycopyranosyl flavone （2）. Their structures elucidated by chemical and spectroscopic analysis including IR, MS, 1D and 2D NMR spectra.展开更多
BACKGROUND Craniopharyngioma is a benign tumor that usually develops in children;however,it is located in the center and close to sensitive structures,such as the pituitary gland and hypothalamus.As the hypothalamus p...BACKGROUND Craniopharyngioma is a benign tumor that usually develops in children;however,it is located in the center and close to sensitive structures,such as the pituitary gland and hypothalamus.As the hypothalamus plays a crucial role in the homeostasis of anterior pituitary hormone synthesis,damage to the hypothalamus leads to multiple pituitary hormone deficiencies and non-alcoholic fatty liver disease,including hepatopulmonary syndrome(HPS).HPS has limited treatment and poor prognosis.CASE SUMMARY A girl aged 13 years and 6 mo underwent surgery for craniopharyngioma 6 years prior.Right craniotomy was performed with total resection via the corpus callosum approach,and the tumor at the base was approximately 3.5 cm×3.5 cm×4.0 cm.At 1 year postoperatively,she exhibited abdominal distension and weakness,and the laboratory tests revealed fatty liver disease.Thereafter,she had not visited the outpatient clinic for 2 years.Two years ago,she developed decreased activity endurance,severe cyanosis,chest tightness,wheezing,and intermittent and recurrent low fever after mild physical labor.Hepatobiliary ultrasonography,liver biopsy,and contrast echocardiography of the right heart showed cirrhosis and multiple pituitary hormone deficiencies,indicating HPS.After 1 year of treatment with recombinant human growth hormone,the liver function and oxygenation improved;she did not undergo liver transplantation.CONCLUSION Craniopharyngioma surgery can easily cause hypopituitarism,which can lead to nonalcoholic steatohepatitis and HPS in children.Early growth hormone therapy is important to improve the prognosis of these diseases.展开更多
In recent years, China has been frequented by floods and droughts which has greatly evoked much concern from the Central Government about rural water conservancy construction. Irrigation is closely related to the &quo...In recent years, China has been frequented by floods and droughts which has greatly evoked much concern from the Central Government about rural water conservancy construction. Irrigation is closely related to the "three rural" issues and concerns about the vital interests of farmers. To achieve a virtuous circle of agricultural water supply, it is necessary and urgent to establish Farmer Water User Association (FWUA) to participate in the construction, management and maintenance of small-scale irrigation system. Based on the survey on nationwide "Small-scale irrigation conditions", the roles of FWUA in the construction, management and maintenance of small-scale water conservancy have studied in this study.展开更多
Because most piezoelectric devices have interfaces with fluid in engineering, it is valuable to study the coupled field between fluid and piezoelectric media. As the fundamental problem, the 3D Green＇s functions for ...Because most piezoelectric devices have interfaces with fluid in engineering, it is valuable to study the coupled field between fluid and piezoelectric media. As the fundamental problem, the 3D Green＇s functions for point forces and point charge loaded in the fluid and piezoelectric bimaterials are studied in this paper. Based on the 3D general solutions expressed by harmonic functions, we constructed the suitable harmonic functions with undetermined constants at first. Then, the couple field in the fluid and piezoelectric bimaterials can be derived by substitution of harmonic functions into general solutions. These constants can be obtained by virtue of the compatibility, boundary, and equilibrium conditions. At last, the characteristics of the electromechanical coupled fields are shown by numerical results.展开更多
基金National Natural Science Foundation of China,No. 11571309the Zhejiang Health Bureau Fund,No. 2016ZHA004。
文摘BACKGROUND X-linked agammaglobulinemia is a primary immunodeficiency disease caused by gene mutations of Bruton’s tyrosine kinase(BTK).We found a new mutation point and summarized the correlation analysis and performed a literature review.CASE SUMMARY The proband was a 5-year-old boy.He was admitted to our hospital due to a recurrent cough and a fever that had persisted for a month.He had a history of multiple respiratory infections and sinusitis.There was no immunodeficiency or recurrent infection history among his family members.Agammaglobulinemia was characterized as follows:Immunoglobulin(Ig)A,90.0 mg/dL(90-450 mg/dL);IgG,20.0 mg/dL(800-1800 mg/dL);and IgM,18.0 mg/dL(60-280 mg/dL).Notably,the assessment of IgG subtypes revealed the following very low levels:Subtype 1,0.26 g/L(3.62-12.28 g/L);subtype 2,0.10 g/L(0.57-2.9 g/L);subtype 3,0.009 g/L(0.129-0.789 g/L);and subtype 4,0.003 g/L(0.013-1.446 g/L).Cellular immunological test results were as follows:CD3,74.6%(50%-84.0%);CD4,47.3%(27.0%-51.0%);and CD8,24.9%(15.0%-44.0%).A de novo hemizygous deletion in BTK was detected:c.902_c.904delAAG/p.E301del.Transcript levels of the mutant BTK were similar to those of the wild-type gene,though overexpression resulted in markedly reduced levels of mutant BTK(9.49%±1.58%),relative to the wildtype BTK(75.8%±2.98%,P<0.01).CONCLUSION This case of X-linked agammaglobulinemia was attributed to a de novo hemizygous deletion mutation in BTK(c.902_c.904delAAG/p.E301del).The mutation resulted in markedly reduced BTK protein stability in vitro.
文摘BACKGROUND Congenital biliary atresia(CBA)is a serious hepatobiliary disease in children with unknown etiology.Its outcome is often liver transplantation or death.Clarifying the etiology of CBA is of great significance for prognosis,treatment,and genetic counseling.CASE SUMMARY A male Chinese infant at an age of 6 mo and 24 d was hospitalized because of"yellow skin for more than 6 mo".Soon after birth,the patient developed jaundice,which then progressively intensified.A"laparoscopic exploration"indicated"biliary atresia".After coming to our hospital,genetic testing suggested a GPC1mutation[loss 1(exons 6-7)].The patient recovered and was discharged after living donor liver transplantation.After discharge,the patient was followed up.The condition was controlled by oral drugs,and the patient’s condition was stable.CONCLUSION CBA is a complex disease with a complex etiology.Clarifying the etiology is of great clinical importance for treatment and prognosis.This case reports CBA caused by a GPC1 mutation,which enriches the genetic etiology of biliary atresia.However,its specific mechanism needs to be confirmed by further research.
文摘目的:探讨彩色多普勒超声对血液透析(HD)患者动静脉内瘘结构功能评估及并发症诊断的应用价值。方法:接受HD治疗的80例终末期肾病患者,均采用自体动静脉吻合内瘘(AVF)。先用二维超声观察AVF,然后用彩色多普勒超声定期测量AVF的血流动力和管径变化,记录AVF血流通畅状况和相关并发症。结果:彩色多普勒超声测量显示:术后2周、4周、6周时桡动脉管径(RAD)、肱动脉血流量和头静脉管径(CVD)呈逐渐上升趋势,和术前比较有显著提高,差异有统计学意义( P <0.01)。根据AVF血流情况和超声图像信息,明确诊断AVF血流通畅51例(63.75%);并发症方面:血栓形成13例(16.25%)、动静脉瘘狭窄11例(13.75%)和静脉瘤状扩张5例(6.25%)。结论:彩色多普勒超声能动态定量观察HD患者AVF血管管径和血流情况,对临床评估AVF结构功能、并发症诊断及其防治均有显著价值。
文摘Two new C-glycosylflavones were isolated from the whole plant of Mimosa pudica, and their structures were determined as 6,7,3＇,4＇-tetrahydroxyl-8-C-[α-L-rhamnopyranosyl-（1 → 2）]-β-D-glucopyranosyl flavone （1）, 5,7,3＇,4＇-tetrahydroxy-8-C[β-D- apiose-（1 → 4）]-β-D-glycopyranosyl flavone （2）. Their structures elucidated by chemical and spectroscopic analysis including IR, MS, 1D and 2D NMR spectra.
文摘BACKGROUND Craniopharyngioma is a benign tumor that usually develops in children;however,it is located in the center and close to sensitive structures,such as the pituitary gland and hypothalamus.As the hypothalamus plays a crucial role in the homeostasis of anterior pituitary hormone synthesis,damage to the hypothalamus leads to multiple pituitary hormone deficiencies and non-alcoholic fatty liver disease,including hepatopulmonary syndrome(HPS).HPS has limited treatment and poor prognosis.CASE SUMMARY A girl aged 13 years and 6 mo underwent surgery for craniopharyngioma 6 years prior.Right craniotomy was performed with total resection via the corpus callosum approach,and the tumor at the base was approximately 3.5 cm×3.5 cm×4.0 cm.At 1 year postoperatively,she exhibited abdominal distension and weakness,and the laboratory tests revealed fatty liver disease.Thereafter,she had not visited the outpatient clinic for 2 years.Two years ago,she developed decreased activity endurance,severe cyanosis,chest tightness,wheezing,and intermittent and recurrent low fever after mild physical labor.Hepatobiliary ultrasonography,liver biopsy,and contrast echocardiography of the right heart showed cirrhosis and multiple pituitary hormone deficiencies,indicating HPS.After 1 year of treatment with recombinant human growth hormone,the liver function and oxygenation improved;she did not undergo liver transplantation.CONCLUSION Craniopharyngioma surgery can easily cause hypopituitarism,which can lead to nonalcoholic steatohepatitis and HPS in children.Early growth hormone therapy is important to improve the prognosis of these diseases.
文摘In recent years, China has been frequented by floods and droughts which has greatly evoked much concern from the Central Government about rural water conservancy construction. Irrigation is closely related to the "three rural" issues and concerns about the vital interests of farmers. To achieve a virtuous circle of agricultural water supply, it is necessary and urgent to establish Farmer Water User Association (FWUA) to participate in the construction, management and maintenance of small-scale irrigation system. Based on the survey on nationwide "Small-scale irrigation conditions", the roles of FWUA in the construction, management and maintenance of small-scale water conservancy have studied in this study.
基金financial support from the National Natural Science Foundation of China(11572119)
文摘Because most piezoelectric devices have interfaces with fluid in engineering, it is valuable to study the coupled field between fluid and piezoelectric media. As the fundamental problem, the 3D Green＇s functions for point forces and point charge loaded in the fluid and piezoelectric bimaterials are studied in this paper. Based on the 3D general solutions expressed by harmonic functions, we constructed the suitable harmonic functions with undetermined constants at first. Then, the couple field in the fluid and piezoelectric bimaterials can be derived by substitution of harmonic functions into general solutions. These constants can be obtained by virtue of the compatibility, boundary, and equilibrium conditions. At last, the characteristics of the electromechanical coupled fields are shown by numerical results.
