Partial deletion of the long arm of chromosome 7 is a rare disease and is prone to missing the diagnosis or being misdiagnosed.Here we present a case of a 13-year-old boy that showed symptoms such as growth-retardation,moderate intellectual disability,hypotelorism,microcephaly,epicanthal folds,genu varum and lumbar vertebral cleft,but it did not show serious symptoms like cleft lip,urogenital malformation and hypotonia.He was eventually diagnosed as partial deletion of the long arm of chromosome 7 syndrome through gene analysis.Considering the rare incidence of this disease and more rarely for being hospitalized to endocrine ward due to growth retardation,this case report can provide more information for clinic diagnosis and differential diagnosis for growth retardation.

Objective To know the relationship between air quality and meteorological conditions in Sanming City,Fujian, China.Methods Based on the fixed point monitoring data of everyday air quality from Sanming Environmental Monitoring Center and the corresponding upper air synoptic chart from 2002 to 2006,the spatial and temporal distribution characteristics,the variation tendency of the ambient air quality and their relations with the meteorological conditions were analyzed by using Excel 2003 software.Results The air pollution in Sanming was serious,the PM10 was concluded as the predominant pollutant.The concentration of SO_2,NO_2 and PM10,which affected the air quality of Sanming,was higher during October—April,and it was lower during May—September.The concentration of the pollutants was higher in the urban areas eompared with the suburbs. Conclusion The air quality in Sanming is related to the variation of the synoptic system.The air quality under the warm shear line system is best and under low system is next-best;the air quality under the warm sector convergence system is worst and under continent high system is next-worst;the low-level wind direction has some effect on the variation of the air quality,the air quality in easterly wind is better than that in westerly wind.

0.05),higher rate of maternal mortality and perinatal mortality(P

Adult ; Biopsy, Needle ; Diagnosis, Differential ; Humans ; Kidney ; pathology ; Kidney Diseases ; pathology ; therapy ; Male ; Nephritis, Interstitial ; pathology ; Renal Dialysis ; Sarcoidosis ; pathology ; therapy ; Tuberculosis, Renal ; pathology

AIM : To construct and analyze eukaryotic expression plasmid inserted by Cx50 with V64G mutation through bioinformatics software.METHODS: The full coding domain sequence of Cx50 with V64G mutation was acquired from the blood of patients with cataract and was cloned into pcDNA3.1 /Amp (+).The constructed plasmid was identified with PCR , enzyme digestion and sequencing. The analysis of Cx50 with V64G mutation was performed with bioinformatics software.RESULTS : Cx50 with V64G mutation was successfully amplified and its eukaryotic expression plasmid was constructed. Valine-64 is well conserved in the first extracellular loop of connexin 50 in different species and also in different human α -type gap junctional proteins.CONCLUSION : The successive reconstruction and verification of eukaryotic expression plasmid containing Cx50 with V64G mutation established the foundation for further studying the mechanism of cataract.

Background Angiogenesis is an essential event for the growth and mobility of malignant tumors,but there is little literature about the effects of anoxia and angiogenesis-related factors on angiogenesis in choroidal melanoma.Objective The aim of this study was to investigate the expression of angiogeneic factors such as hypoxia inducible factor-1α(HIF-1α),inducible nitric oxide synthase(iNOS),cyclooxygenase-2(COX-2),and vascular endothelial growth factor(VEGF)in choroidal melanoma and their clinical significance.Methods The specimens from 44 cases of choroidal melanoma and 16 cases of eyelid nevi identified by pathology were collected.Immunohistochemistry SP was used to examine the expression of HIF-1α,iNOS,COX-2 and VEGF in the samples.The expression of HIF-1 α,iNOS,COX-2 and VEGF in tumors with different sizes,different pathological types and different growth patterns was evaluated.The correlations among these four proteins in tumor growth and development were assessed.Results The expression of HIF-1α,iNOS,COX-2 and VEGF in choroidal melanoma were significantly higher than those in the eyelid nevi group(x2 =6.58,4.105,8.350,13.240,P＜0.05).The expression of VEGF was associated with tumor size(x2 =9.389,P＜0.05),but not associated with pathological types(x2 =1.186,P＞0.05)and infiltration depth(x2 =5.398,P＞ 0.05).The expression of HIF-1α was associated with tumor size(x2=8.664,P＜0.05)and pathological type(x2=6.622,P ＜ 0.05),but not associated with infiltration depth(x2=4.914,P＞0.05).The expression of iNOS was associated with tumor size(x2 =8.609,P＜0.05),but was not associated withpathological type(x2 =4.789,P＞0.05)and infiltration depth(x2 =4.309,P＞0.05).The expression of COX-2 was associated with tumor size(x2 =7.320,P＜0.05),but was not associated with pathological type(x2 =2.772,P＞0.05)and infiltration depth(x2 =2.103,P＞0.05).The expression of HIF-1 α,iNOS,and COX-2 were significantly correlated with the expression of VEGF(r =0.943,1.000,0.986,P ＜ 0.05).The expression of COX-2 was significantly correlated with the expression of iNOS(r =0.986,P＜0.05).The expression of HIF-1 α was significantly associated with the expression of COX-2(r=0.986,P＜O.05).The expression of HIF-1α was significantly associated with the expression of iNOS(r=0.943,P＜0.05).Conclusions The expressions of the HIF-1 α,iNOS,COX-2 and VEGF protein are up-regulated in choroidal melanoma.They may play important roles in the angiogenesis of the choroidal melanoma.Assessment of the expression of HIF-1α,iNOS and COX-2 may be useful for the diagnosis and therapy of choroidal melanoma.

Adult ; Age Factors ; Air Pollutants, Occupational ; toxicity ; Humans ; Male ; Middle Aged ; Occupational Exposure ; Police ; Pulmonary Diffusing Capacity ; physiology ; Pulmonary Ventilation ; physiology ; Respiratory Function Tests ; Smoking ; adverse effects ; Vehicle Emissions ; toxicity

Child ; Ectodermal Dysplasia ; diagnosis ; genetics ; Family Health ; Genes, Recessive ; genetics ; Humans ; Male ; Sex Factors

Child, Preschool ; Female ; Gastritis, Hypertrophic ; complications ; diagnosis ; diagnostic imaging ; Humans ; Hypoproteinemia ; etiology ; Protein-Losing Enteropathies ; etiology ; Radionuclide Imaging

Objective To clone the full-length CDS sequence of LOC 401296 , an undefined gene that we found recently, and to obtain both its expression in eukaryotic cells or E.coli and antiserum to LOC401296 protein.Methods The full-length CDS sequence of LOC401296 was amplified by polymerase chain reaction (PCR).Then we established the expression vectors pET28B-LOC401296 and pCMV-Myc-LOC401296 by cloning the full-length CDS sequence into vector PET28B and vector pCMV-Myc respectively.Isopropyl Thiogalactoside (IPTG) was used to induce LOC401296 expression in E.coli.Furthermore,the protein purified and refolded was used to immunize BALB /c mice.The titer of the antiserum collected from immunized mice was identified by ELISA assay and Western blot .Results We cloned the full-length CDS sequence of LOC401296 was successfully .Protein LOC401296 was expressed as was expected and the mouse anti-human LOC401296 antiserum was obtained .The antiserum titer reaching 1∶64 000 was identified by ELISA .Besides, Western blot analysis showed that the antiserum could be used to detect protein LOC 401296 .Conclusion The full-length sequence of LOC401296 is obtained and the mouse anti-human LOC401296 antiserum becomes available .This study can contribut to further research on the undefined gene LOC 401296 .