BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270...BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270 different mutation sites have been reported for AVPR2.Therefore,new mutations and new manifestations are crucial to complement the clinical deficiencies in the diagnosis of this disease.We report a case of a novel AVPR2 gene mutation locus and a new clinical manifestation.CASE SUMMARY We describe the case of a 48-d-old boy who presented with recurrent fever and diarrhea 5 d after birth.Laboratory tests showed electrolyte disturbances and low urine specific gravity,and imaging tests showed no abnormalities.Genetic testing revealed a novel X-linked recessive missense mutation,c.283(exon 2)C>T(p.P95S).This mutation results in the substitution of a proline residue with a serine residue in the AVPR2 protein sequence.The diagnosis of CNDI was confirmed based on the AVPR2 gene mutation.The treatment strategy for this patient was divided into two stages,including physical cooling supplemented with appropriate amounts of water in the early stage and oral hydrochlorothiazide(1-2 mg/kg)after a clear diagnosis.After follow-up of one and a half years,the patient gradually improved.CONCLUSION AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle.展开更多
An integrated geophysical survey which combines vertical seismicprofile method, shallow reflection seismic method, electric sounding, soil temperature measurement and radioactive gas measurement was used to investigat...An integrated geophysical survey which combines vertical seismicprofile method, shallow reflection seismic method, electric sounding, soil temperature measurement and radioactive gas measurement was used to investigate Zhaoshuling landslide in the new site of Badong County and to assess the stability of the landslide. By rational use of these methods together with borehole geological profile and other geological information, the spatial distribution of the landslide body, the formations and structures within and without the landslide body were determined and the stability of the landslide was also assessed, thus making great contribution to the successful and rational investigation and assessment of the landslide.展开更多
In the present study,the complete genomes of four common（4/EV71/Wenzhou/CHN/2014,15/EV71/Wenzhou/CHN/2014,116/EV71/Wenzhou/CHN/2014,and 120/EV71/Wenzhou/CHN/2014）and two virulent（11/EV71/Wenzhou/CHN/2014and 109/EV7...In the present study,the complete genomes of four common（4/EV71/Wenzhou/CHN/2014,15/EV71/Wenzhou/CHN/2014,116/EV71/Wenzhou/CHN/2014,and 120/EV71/Wenzhou/CHN/2014）and two virulent（11/EV71/Wenzhou/CHN/2014and 109/EV71/Wenzhou/CHN/2014）enterovirus 71（EV71）isolates were sequenced and described.They are 7405 bp in length and belong to EV71 sub-genotype C4 （C4a cluster）.展开更多
The paper tends to make an empirical analysis on the experimental site of new countryside construction of Xianhong in Hubei, pointing out that the inner and outer dependence on routines of experimental construction. T...The paper tends to make an empirical analysis on the experimental site of new countryside construction of Xianhong in Hubei, pointing out that the inner and outer dependence on routines of experimental construction. The paper also puts forward the beneficial policies, focusing on the agricultural production and fostering professional farmers, to reduce much dependence on routines.展开更多
文摘BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270 different mutation sites have been reported for AVPR2.Therefore,new mutations and new manifestations are crucial to complement the clinical deficiencies in the diagnosis of this disease.We report a case of a novel AVPR2 gene mutation locus and a new clinical manifestation.CASE SUMMARY We describe the case of a 48-d-old boy who presented with recurrent fever and diarrhea 5 d after birth.Laboratory tests showed electrolyte disturbances and low urine specific gravity,and imaging tests showed no abnormalities.Genetic testing revealed a novel X-linked recessive missense mutation,c.283(exon 2)C>T(p.P95S).This mutation results in the substitution of a proline residue with a serine residue in the AVPR2 protein sequence.The diagnosis of CNDI was confirmed based on the AVPR2 gene mutation.The treatment strategy for this patient was divided into two stages,including physical cooling supplemented with appropriate amounts of water in the early stage and oral hydrochlorothiazide(1-2 mg/kg)after a clear diagnosis.After follow-up of one and a half years,the patient gradually improved.CONCLUSION AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle.
基金The authors are indebted to the chief engineer of Bureau of Geotechnique of Changjiang WaterResources Commission, Cui Zhengquan and the academician of the Chinese Academy of Sciences Xu Houze for their support and help. We would like to express our gra
文摘An integrated geophysical survey which combines vertical seismicprofile method, shallow reflection seismic method, electric sounding, soil temperature measurement and radioactive gas measurement was used to investigate Zhaoshuling landslide in the new site of Badong County and to assess the stability of the landslide. By rational use of these methods together with borehole geological profile and other geological information, the spatial distribution of the landslide body, the formations and structures within and without the landslide body were determined and the stability of the landslide was also assessed, thus making great contribution to the successful and rational investigation and assessment of the landslide.
基金funded by Natural Science Foundation of Zhejiang(LQ14C010006)National Natural Science Foundation of China(81501363)Planned Science and Technology Project of Zhejiang(2014C33261)
文摘In the present study,the complete genomes of four common（4/EV71/Wenzhou/CHN/2014,15/EV71/Wenzhou/CHN/2014,116/EV71/Wenzhou/CHN/2014,and 120/EV71/Wenzhou/CHN/2014）and two virulent（11/EV71/Wenzhou/CHN/2014and 109/EV71/Wenzhou/CHN/2014）enterovirus 71（EV71）isolates were sequenced and described.They are 7405 bp in length and belong to EV71 sub-genotype C4 （C4a cluster）.
基金Supported by the Social and Scientific Funds Projects of Hubei Province in 2009 (203004)
文摘The paper tends to make an empirical analysis on the experimental site of new countryside construction of Xianhong in Hubei, pointing out that the inner and outer dependence on routines of experimental construction. The paper also puts forward the beneficial policies, focusing on the agricultural production and fostering professional farmers, to reduce much dependence on routines.
