Delivery of Health Care ; legislation & jurisprudence ; methods ; Female ; Forecasting ; Health Services for the Aged ; legislation & jurisprudence ; supply & distribution ; Humans ; Male ; Medical Informatics ; Prostatic Intraepithelial Neoplasia ; pathology ; Prostatic Neoplasms ; pathology ; Time Factors

China ; Humans ; Immunohistochemistry ; standards ; Pathology, Clinical ; methods ; Quality Control

Objective To analyse the mutation of low density lipeprotein receptor (LDLR) gene associated with familial hypercholesterolemia (FH) and make a discussion on the relationship between genotype and phenotype. Methods The blood fat, electrocardiogram, heart and great vessels color Doppler were examined in propositus and family member. The promoter and all eighteen exons of LDLR gene were investigated by polymerase chain reaction (PCR),degenerate high performance liquid chromatogram (DHPLC) and DNA sequence analysis. The results were compared with the normal sequences in GenBank and FH database (www.ucl.uk/fh) to find the mutation. In addition,the apolipoprotein B100(ApoB100) gene for the known mutations(Q3500R) that cause familial defective ApoB100(FDB) was detected by directed screening.Results Two novel heterozygous c.1864 G→A (Asp622Asn) and c.1959 C→T(Val 653Val) mutations in the exon 13 of LDLR in promoter were detected. And Asp622Asn mutation segregated with the disease. No mutation Q3500R of ApeB100 was observed. Conclusions The heterozygous c.1864 G→A (Asp622Asn)mutation of LDLR gene is firstly determined in China. The heterozygous c.1864 G→A (Asp622Asn)mutation of LDLR gene is probably responsible for FH. Perhaps it is a particular pathogenesis for Chinese people. PCB-DHPLC could be used for detecting the mutation.

Accidents, Occupational ; statistics & numerical data ; Adolescent ; Adult ; Cross-Over Studies ; Female ; Hand Injuries ; etiology ; Humans ; Male ; Middle Aged ; Risk Factors ; Surveys and Questionnaires ; Young Adult

Adult ; Burns ; etiology ; mortality ; China ; epidemiology ; Coal Mining ; Explosions ; Female ; Gases ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Young Adult

Adolescent ; Adult ; Burns, Inhalation ; etiology ; therapy ; Explosions ; Female ; Gases ; Humans ; Male ; Retrospective Studies ; Young Adult

ObjectiveTo investigate the clinical efficacy and safety of Tetramethylpyrazine and Buthus martensi on children with cerebral daminfication syndrome.Methods39 cases with cerebral daminfication syndrome were randomly divided into the study group (18 cases, treated with Tetramethylpyrazine and Buthus martensi) and control group (21 cases, treated only with general nerve nutrition therapy). The curative effect of two groups was evaluated.ResultsAfter treatment, in the study group, 11 cases were cured, 4 cases more effective, 1 case efficacy, 2 cases inefficacy; in the control group, the numbers were 6 cases, 9 cases, 3 cases and 3 cases respectively. There was a significant difference between two groups (P<0.05). There was not side effect in all cases.ConclusionTetramethylpyrazine and Buthus martensi is safe and effective to treat children with cerebral daminfication syndrome.

AIM: To observe effect of the iris location to femtosecond - combined wavefront guided LASIK for myopia and astigmatism.?METHODS:The patients with astigmatism >1. 0D during the same time and followed up for 1a were selected. A total of 129 eyes in 67 patients were treated under iris location with femtosecond-combined wavefront guided LASIK ( experimental group) and 161 eyes in 82 cases with femtosecond-combined wavefront guided LASIK ( control group) . Laser cutting went with the same laser machine. The uncorrected visual acuity ( UCVA ) , best corrected visual acuity ( BCVA) , and wavefront aberration between the two groups were compared at 1, 3, 6mo and 1a after surgery.?RESULTS:At 1 and 3mo after surgery, the number of patients with better postoperative UCVA than preoperative BCVA between the two group showed a statistically significant difference (χ2=6. 423, P=0. 011,χ2=14. 431, P=0. 01 ); at 1d and 1mo after surgery, the residual astigmatism showed a statistically significant difference between two groups (t=1. 98, P<0. 05; t=2. 23, P<0. 05). At 3, 6mo and 1a after surgery, the differences on the change of residual astigmatism between the two groups weren’t significant ( P > 0. 05 ). At 6mo and 1a after surgery, the differences on UCVA between the two groups weren’t significant ( P > 0. 05 ). Until 1a after surgery, the root mean square ( RMS ) of high order wavefront aberration of the two groups, spherical aberration and coma aberration ( COMA ) were all enhanced compared to before surgery(P<0. 05). At 1, 3mo after surgery, the RMS showed a statistically significant difference between two groups (P<0. 05). At 1, 3, 6mo, 1a after surgery, the increase of COMA in experimental group was significantly lower than that in control group (P<0. 05).? CONCLUSION: Iris location technology applied in femtosecond - combined wavefront guided LASIK for myopia and astigmatism, can make the vision recovery faster, the RMS of high order and COMA increase less, the residual astigmatism less, show better and more stable treatment effect.

AIM:To contrast analysis of postoperative variation of corneal posterior surface heights after Femtosecond LASlK ( FS - LASlK ) and small incision lenticule extraction ( SMlLE) for high myopia.
●METHODS: Sixty-seven cases of high myopic patients (132 eyes) operated with laser corneal refractive in our hospital from May to Dec. in 2015 (-6. 00D≤spherical equivalent degree≤-10. 00D) were selected and divided into FS-LASlK group and SMlLE group. The thickness of corneal flaps at FS-LASlK and the thickness of map at SMlLE were designed to be 110μm. Corneal posterior surface heights were examined by Pentacam at preoperation, postoperative 3 and 6mo after FS-LASlK and SMlLE operation. Surface height changes after preoperative, postoperative 3 and 6mo were compared by measuring Pentacam corneal analysis system.
●RESULTS: Six months after operation, the FS-LASlK posterior corneal surface height was 6. 47 ± 1. 65mm, significantly higher than 5. 20 ± 1. 32mm before operation. SMlLE posterior corneal surface height was 6. 40 ± 1. 33mm, significantly higher than 5. 18 ± 1. 25mm before operation, the differences were statistically significant( P<0. 05). Six month after surgery, two methods of corneal surface height variation obtained was 1. 29 ± 1. 28mm and 1. 22 ± 0. 89mm, there was no significant difference ( P>0. 05).
●CONCLUSION:After FS-LASlK and SMlLE, the corneal posterior surface is protrusive. FS - LASlK is slightly obvious than SMlLE in early period. The stability of the posterior surface is better after SMlLE.

OBJECTIVETo study the clinical manifestation and ultrasonic characteristics of liver, kidney and heart of five patients with acute arsenic poisoning.

METHODSThe activity of serum myocardial enzymes, function of liver and kidney, and urinary As concentrations were measured. HDI 3000 Enhanced, and Toshiba 38A two dimensional ultrasound was used to examine the ultrasonic echogram of heart, liver, kidney of the patients.

RESULTS(1) The arsenic concentrations in the urine (1.9 approximately 15.6 micromol/L) were higher than the normal value (1.17 micromol/L) in these patients (blood dialytic fluid of one patient with anuria was measured); (2) Four of them had increased WBC, or anemia, and abnormal urine routine to various degree; (3) The activities of serum myocardial enzymes (CK, AST, LDH and HBDH) in 4 patients were at least 2 items increased; (4) Serum bilirubin and urea nitrogen in all patients were increased; (5) The ultrasonic echogram of liver and kidney in these 5 patients showed abnormality to various degree, one of them had slight enlargements in left atrium and ventricle as well as a little pericardial fluid.

CONCLUSIONThe clinical manifestation and ultrasonic characteristics of liver, kidney, and heart were consistent with the pathologic changes in acute arsenic poisoning. Early blood dialysis may reduce visceral damage.

Acute Disease ; Adult ; Arsenic Poisoning ; complications ; diagnostic imaging ; physiopathology ; Heart ; physiopathology ; Humans ; Kidney ; diagnostic imaging ; physiopathology ; Liver ; diagnostic imaging ; physiopathology ; Male ; Ultrasonography