Objective To analyze the allele frequencies of 5 short tandem repeat(STR)loci(D12S313,D12S304,D12S1640,D12S1708 and D12S1583)on chromosome 12 among Kashin-Beck disease(KBD)patients and the control population living in the area suffered from KBD.Methods Fifty KBD patient8 and 50 non-KBD patients were chosen in endemic afea of Shaanxi Province,5 STR loci on chromosome 12 were genotyped by the technology of polymerase chain reacfion(PCR)and capillary electmphoresis.The pelymorphisms of STR in these popIllations were analyzed.The allele and genotype frequencies of each STR in the corresponding groups were caleulated and compared. Results In KBD group,the 5 STR loci had 8,6,7,5 and 11 types ofalleles and 17,11,15,8 and 28 genotypes, respectively;while in the control group,the number of aUele types of 5 STR loci were 6,8,6,4 and 10,the number of genotype of those loci were 13,21,14,8 and 23,respectively The allele frequence of D12S304 locus was statiBtically significant between KBD patients and controls(P<0.05),especially for the 319 bp allele(P<0.006 25). Conclusion There is an association between D12S304 locus and KBD.The 319 bp allele might play the key role.

Ecotoxicology ; Humans ; Proteomics ; Risk Assessment

Animals ; Beverages ; Macrophages ; drug effects ; metabolism ; Mice ; Mice, Inbred Strains ; Receptors, Complement 3b ; metabolism

Female ; Humans ; Hypothyroidism ; drug therapy ; Infant, Newborn ; Thyroxine ; poisoning ; therapeutic use

Objective To assess the proficiency of water monitoring laboratory at rural, county, and provincial levels in Guangdong province, to ensure the province's drinking water monitoring results accurate and reliable. Methods State quality of certified reference materials as water arsenic, fluoride and chloride of 90 copies each were numbered and distributed to 90 monitoring laboratories in the province for testing, The measurement results of the participatory labs were evaluated through normative values and expanded uncertainty, and were compared with those of robust statistics method. Results All participatory labs had timely feedback of their measurement results. The qualified rate was higher when arsenic was tested by hydride generation atomic fluorescence spectrometry and zinc-new silver salt of sulfuric acid spectrophotometric system, while fluoride and chloride by ion chromatography. The average qualified rates of water arsenic, fluoride and chloride of the province's rural drinking water quality monitoring laboratory were 66% (59/90), 72% (65/90) and 72% (65/90), respectively.Seven participatory labs failed the proficiency testing of all three analytes and unqualified rate was 7.8% (7/90)among the ninety participated monitoring labs. The qualified rates of robust statistics method for arsenic fluoride and chloride were greater than those evaluated by the expanded uncertainty, and large deviations with small sample sizes. Conclusions The testing ability of drink-water monitoring labs in Guangdong province has improved.However, by comparison with the requirements of national quality control and testing skills, there is still a gap. It is suggested that internal quality control be included in routine inspeetion to improve laboratory testing technology.

Objective To summarize the clinical features of mercury poisoning diagnosed by blood and urine tests for improving the diagnosis and treatment of the disease.Methods Poisoning causes,clinical manifestations,diagnosis,treatment and prognosis were retrospectively reviewed in 92 in-patients with mercury poisoning in our hospital from January 2000 to April 2010.Results Of the 92 patients,37 were male and 55 were female with an average age of 33.1(2-65)years old.The mercury poisoning was caused by occupational exposure and non-occupational exposure,such as iatrogenic exposure,life exposure and wrong intake or suicidal intake of mercury-containing substances,mainly through respiratory tract,digestive tract and skin absorption.The most common clinical symptoms were as the followings:nervous system symptom,such as memory loss in 50 eases(54.3%),fatigue in 34(37.0%),numb limb in 25 (27.2%),dizziness and headache in 22(23.9%),cacesthesia in 20(21.7%),fine tremor(finger tip,tongue tip,eyelids)in 15(16.3%),insomnia and more dreams in 12(13.0%);gastrointestinal symptoms:nausea in 16 (17.4%),abdominal pain in 14(15.2%),stomatitis in 5(5.4%);joint and muscle symptoms:muscle pain in 16(17.4%),joint pain in 5(5.4%);cardiovaseular system:chest tightness,hean palpitations in 6(6.5%);urinary system:edema in 9(9.8%);other system:hidrosis in 20(21.7%).After the treatment with sodium dimercaptopropane sulfonate (DMPS),the symptoms were gradually alleviated.Their gastrointestinal,cardiovascular symptoms were alleviated within 2 weeks;neurological symptoms were alleviated within 3 months;kidney damage showed a slower recovery and could be completely'alleviated within 6 months.Conclusions Because of its diverse clinical symptoms,the mercury poisoning was easy to misdiagnosis and missed diagnosis:therefore the awareness of the disease should be further enhanced.Leaving from the poisoning environment timely and giving appropriate treatment with DMPS will lead to a satisfactory prognosis.

Object: To investigate the effects of Huaiqihuang Granule, a compound Chinese herbal medicine, on expressions of nephrin and podocin of slit diaphragm of glomerular podocytes in rats with adriamycin-induced nephrosis and to explore the mechanism in reducing the proteinuria. Methods: Twenty SD rats were randomly divided into five groups: control group, model group, glucocorticoid group, Huaiqihuang Granule group and Huaiqihuang Granule plus glucocorticoid group. The 24-hour urine was collected 7, 14, 21 and 28 days after adriamycin injection respectively to measure 24-hour urinary protein, and all rats were sacrificed after 28-day treatment. Pathological changes in renal tissues were observed under a light microscope and an electron microscope. Expressions of nephrin and podocin mRNAs in renal cortex were determined by real-time polymerase chain reaction, and protein levels of nephrin and podocin were detected by Western blotting. Results: (1) In the model group and the treatment groups, the level of urinary protein increased significantly from the 14th day. (2) Under the light microscope, inflammatory cells and slight fibroplasia were found in renal interstitium of the model group, but there were less inflammatory cells in renal interstitium in the intervention groups than in the model group. Under the electron microscope, 29 days after adriamycin injection, extensive fusion of foot processes was observed. (3) The expressions of nephrin and podocin were higher in treatment groups than in the model group. (4) Proteinuria level was negatively correlated with the expressions of nephrin mRNA and nephrin and podocin proteins. Conclusion: The above results indicate that Huaiqihuang Granule can maintain the integrity of the slid diaphragram in podocyte, alleviate the lesion of glomerular filtration membrane, and decrease the proteinuria by up-regulating the expressions of nephrin and podocin. Huaiqihuang Granule plus glucocorticoid maybe has better effects than glucocorticoid alone.

Alagille syndrome (AGS) is a multisystem disorder and caused by mutations in JAG1 or NOTCH2 gene.The diagnosis of AGS is hampered by its highly variable clinical manifestations.We performed a retrospective analysis on 16 children diagnosed as having AGS in recent five years in our hospital.Cholestasis was seen in 15 patients (93.8％),heart disease in 12 (75％),characteristic facies in 7 (43.8％),and butterfly vertebrae in 7 (43.8％).Ophthalmology examination was not performed on all the patients.Further,serum biochemical parameters were compared between AGS and 16 biliary atresia (BA) patients who were confirmed by surgery.Elevated liver enzymes were seen in all the patients.Serum total cholesterol (TC) (P=0.0007),alanine aminotransferase (ALT) (P=0.0056),aspartate aminotransferase (AST) (P=0.0114),gamma-glutamyl transferase (GGT) (P=0.035) and total bile acid (TBA) levels (P=0.042) were significantly elevated in AGS patients compared to those in BA cases.However,there were no significant differences in serum total bilirubin (TB),conjugated bilirubin (CB) and albumin (ALB) between the two groups.We identified 14 different JAG1 gene variations and 1 NOTCH2 gene mutation in 16 Chinese AGS patients.Our study suggested clinical features of AGS are highly variable and not all patients meet the classical diagnostic criteria.It was suggested that hypercholesterolaemia and significantly elevated GGT,TBA and ALT may be helpful to diagnose AGS.Genetic testing is integral in the diagnosis of AGS.

In this article, based on the analysis on the regional information system's development background and its applications, the construction of the regional medical information system through creating the electronic medical record and the medicine image data centers is proposed, for information resource sharing. And then, the system's software construction and various subsystems functions are mainly introduced. Standardization and the middleware platform are suggested as the effective way of constructing these two data centers in the present situation in our country.
Computer Security ; Computer Systems ; Hospital Information Systems ; Humans ; Medical Records Systems, Computerized ; Radiology Information Systems ; Software

OBJECTIVETo assess therapeutic effect of combined treatment of Chinese medicine and western medicine on optic atrophy complicated by cerebral palsy.

METHODSOne hundred and seventeen cases were divided into an observation group (n = 79) and a control group (n = 38). The control group were treated with routine western medicine treatment including neurotrophic drugs and high pressure oxygen, etc. and the observation group with acupuncture at Ganshu (BL 18), Pishu (BL 20), Chengqi (ST 1), etc. and injection of 0.2-0.3 mL Compound Danshen Injectio into Qiuhou (EX-HN 7), on the basis of the same treatment of western medicine as that in the control group. Fundus examination and the tracing body angle detection were conducted before and after treatment and the therapeutic effects were assessed in the two groups.

RESULTSThe total effective rate was 91.1% in the observation group and 60.5% in the control group with a significant difference between the two groups (P < 0.001); after treatment the angle of tracing body significantly increased in the two groups (P < 0.01) with the observation group better than the control group (P < 0.01).

CONCLUSIONThe combined treatment of Chinese medicine and western medicine is an effective therapy for optic atrophy complicated by cerebral palsy.

Acupuncture Therapy ; Cerebral Palsy ; complications ; Combined Modality Therapy ; Drug Therapy ; Female ; Humans ; Infant ; Male ; Optic Atrophy ; therapy