Objective To improve the diagnosis and treatment of von H ippel-Lindau (VHL) disease.Methods The clinic data of one kindred with VHL disease type Ⅱ B was reviewed including clinical manifestation,imaging,pathology and therapy.A 40-year-old male complained of the left upper extremity numbness for 6 months,and a variety of visceral tumors were found 3 months ago.Contrast-enhanced MR imaging showed multiple brain tumors.CT showed left kidney tumor,pancreatic tumor,pars-aortic tumor and left adrenal tumor.Fundoscopy showed multiple retinal hemangioblastoma.PET-CT discovered abdominal multiple tumors.And pedigree analysis was to determine the family medical history,and 6 members got genetic screening.Results In the kindred with VHL disease type Ⅱ B,9 members (30％) out of 40members in 4 generations got the disease.Six members got genetic screening,and the result showed 5 (5/6) members had mutation.Three (3/5) members with 3 sites genetic mutation showed clinical manifestation,1 (1/5) members with 3 sites genetic mutation without clinical manifestation found brain tumors by MRI,and 1 ( 1/5 ) member with 1 site genetic mutation did not find disease by comprehensive checkup.The main mutation located at exon 1 in chromosome 3p25 of VHL gene.All mutation was hetcrozygous mutation.The 295,337 and 337 nucleotide thymine of the VHL gene were substituted by cytosine,cytosine and adenine,which made the 98th,112th and 112th tyrosine substituted by histidine and asparagines.One member with 1 site mutation had 98th tyrosine substituted by cytosine.The first operation was to remove brain tumor,and the second operation was to remove adrenal tumor,para-aortic tumor and renal tumor.Pathology of the brain tumors showed hemangioblastoma,and the retroperitoneal tumors were clear cell carcinoma,paraganglioma and pheochromocytoma.Followed up for 6 months after operation,no relapse occurred.Conclusions VHL disease is a relatively rare autosomal dominant disorder.Comprehensive management of patients should also include genetic counseling and screening for other manifestations of the disease process.Genetic testing might be helpful in early detection of asymptomatic VHL patients.Members having gene mutation should be followed up strictly.Surgical management of VHL disease should be decided on the base of comprehensive assess.Multiple lesions could be cut off in one operation.For patients with pheochromocytoma,pheochromocytoma shuld be handled first.

Objective To assess the factors affecting survival of malignant pheochromocytoma/malignant paraganglioma.Methods The clinical data of 85 malignant pheochromocytoma/malignant paraganglioma patients were analyzed retrospectively.All the patients were followed up,the duration from 2 months to 283 months,the median time was 48 months.The overall survivals of 5 years and 10 years were calculated.The possible affecting factors,such as gender,age,tumor function,metastatic sites,metastatic fields,incipience or recurrence,the time to recur,were analyzed.Survival differences between groups were compared with the log rank test.Multivariate analysis was performed by using Cox regression analysis to detect variables independently associated with survival.All P values were 2 tailed with P ＜ 0.05 considered statistically significant.All statistical analysis was done by SPSS 17.0 software package.Results The overall median survival time was 62 months,5-year survival rate was 44.7％,10-year survival rate was 11.8％.Gender (P =0.649),age (P =0.228),incipience or recurrence (P =0.217) had no significant effect on the survival time.Significance was found in tumor function (P =0.034),metastatic sites,metastatic fields (P =0.009),the time to recur (P =0.003).The median survival time of patients with nonfunctioning tumor and functioning tumor was 90 months and 37 months.The median survival time of patients with multiple system metastases and single system metastasis was 37 months and 117 months.For the patients with single system invaded,there were 15 cases (26.8％) of bone metastasis,10 cases (17.9％) of lymph node metastasis,8 (14.3％) of liver metastasis,7 (12.5％) of lung metastasis,6 (10.7％) of renal metastasis,6 (10.7％) of intestine metastasis and 4 (7.1％) of brain metastasis.The median survival time was 110,77,28,14,26,8 and 19 months.The median survival time of patients with lung,liver,intestine metastasis were shorter than the other patients (P ＜ 0.05).Fifty-five patients were found recurrence after operation,recurrent time was from 4 to 65 months,and the median time was 22 months.The survival time of patients with recurrence within 2 years was shorter than patients above 2 years (P =0.003).Conclusions The prognosis of malignant pheochromocytoma/malignant paraganglioma is poor.Gender,age,incipience or recurrence could not affect the overall survival time.The survival time has relationship with the function of tumor,metastatic field,metastatic sites and time to recurrence.The patients with nonfunctioning tumor have longer survival time than those with functioning tumors.The survival time of patients with single system invaded is longer than ones with multiple systems invaded.The common metastatic sites are bone,lymph node,liver,lung,kidney,intestine and brain.Patients with intestine metastasis have worst prognosis.The patients with only bone and lymph node metastasis have best prognosis.Patients with recurrence above 2 years have a better prognosis than those within 2 years.

MicroRNA (miRNA) are a class of endogenous single -stranded non-coding RNA, which regulate gene expression post-transcriptionally by combining with the target mRNA and play a vital role in biological and pathological processes including the growth of organism , metabolic regulation, disease prediction and intervention.Thus miRNA detection is of considerable significance in disease diagnosis and the research of miRNA function.Because of the restriction factors about miRNA itself such as short sequence, low abundance and highly homologous , traditional methods for miRNA detection cannot meet the current demands due to the limitations like unsatisfactory sensitivity and complicated operation .This review summarizes the newly development about signal amplification -based methods for miRNA, including the advantages and limitations of all kinds of novel methods , and highlights the future trends as well.

Objective To analyse the CT findings of Bochdalek hernia in adult.Methods The CT scan of 42 cases were reviewed showing a mass abutting the upper surface of the diaphragm, the defect was located in the posteromedial aspect of hemidiaphragm with continuity of subdiaphragmatic and supradiaphramatic densities through the diaphramatic defect. Among these, 25 cases were male and 17 cases female. The average age was 64 years, 71.4%≥60 old.Results 53 Bochdalek hernias were identified in 42 cases, 11 cases were bilateral, 21 cases were on the left and 10 cases were on the right side. The diaphragmatic defects diameter ranged 0.5～6.7 cm, the median was 2.8 cm. The range of Bochdalek hernias diameter was 1.5～9.0 cm, with median of 3.7 cm. There was a significant association between diaphragmatic defects and size of hernias (r s=0.72,P

Objective To evaluate the surgical effect for congenital nystagmus (CN) with an abnormal head position in all three axes of a predominant head turn. Design Retrospective case series. Participants 11 patients with horizontal nystagmus and abnormal head position treated in Xingtai Eye Hospital during 2003-2008. All had an abnormal head position in all three axes with a predomi-nant head turn. Methods Recession of the yoke muscles responsible for the slow phase of nystagmus (one medial rectus of 6mm, and one lateral rectus 8 mm), and simultaneously resection of the yoke muscles responsible for the fast phase of nystagmus (the other lateral rectus 9 mm, and medial rectus 7 mm) were performed. The follow-up was from 6 to 20 months. Main Outcome Measures The visual acuity of both eyes in primary position, the degree of head turn, chin elevation or depression, head tilt. Results At the last follow-up, the all 11 patients undergoing the operation for CN gained two or more lines of Snellen acuity with both eyes in primary position for be-ing corrected best. The postoperative mixed head position of 9 cases got disappear or ≤ 10°. Of 1 case developed overcorrection of the head turn. 1 case has the head turn of ≤15°, and 1 case remained the head turn of 25°. Conclusion Recessions and resections of the horizontal yoke rectus muscles in nystagmus with blockage position, when the head turn predominates over the vertical and torsional components, are effective in diminishing the abnormal head position on all three axes, and improve the visual acuity with both eyes in primary position. (Ophthalmol CHN, 2009, 18: 275-278)

Background Immediately ocular rinsing is a key step for the prevention of eye tissue damage after acute chemical bums.A good ophthalmic rinsing solution can neutralize chemical substance and improve the prognosis of patients.Objective This study attempted to evaluate the therapeutic effect of self-made citric aciddisodium hydrogen phosphate buffer and citric acid-disodium hydrogen phosphate-potassium chloride buffer on corneal chemical burns in mice.Methods Citric acid-disodium hydrogen phosphate buffer solution (solution 1) and citric acid-disodium hydrogen phosphate-potassium chloride buffer solution (solution2) with the pH 7.4 were prepared.One hundred and twenty clean male C57 mice aged 6-8 weeks were randomized to two groups,and filter papers containing 1 mol/L H2SO4 or 0.15 mol/L NaOH were attached to the central corneas of the right eyes to create the acid or alkali burning models.Then the eyes were immediately rinsed by 40 ml solution 1,tap water or solution 2 according to the grouping and the model eyes without rinsing served as the control group.The corneal opacity was examined by slit lamp microscope and scored in 3,7 and 14 days after modeling.The percentages of corneal fluorescein staining,corneal neovascularization and corneal ulcer were analyzed.The study protocol was approved by Experimental Animal Ethic Commission of Second Military Medical University.Results In the corneal acid burning models,the number of eye with corneal opacity scored 1 in the solution 1 group,tap water group and solution 2 group was significantly more than that in the non-rinsing group in 3,7 and 14 days after modeling (all at P＜0.01);In 3 days after modeling,the numbers of eye scored 1 were more in the solution 1 group than those in the tap water group and solution 2 group (x2 =11.000,P =0.001;x2 =4.000,P =0.046).There were no differences in the eye number of different corneal opacity scores in 14 days after acid burning (all at P＞0.05).In 3,7 and 14 days after corneal alkali burning,the number of eyes with corneal opacity scored 1-2 was significantly increased in the solution 1 group,tap water group and solution 2 group compared with non-rinsing group (all at P＜0.01).The percentage of corneal ulcer in the solution 1 group,tap water group and solution 2 group was 7％,27％ and 13％,respectively,which was significantly lower than 73％ in the non-rinsing group (P =0.000,0.027,0.003),and no significant differences were seen in various time points after corneal alkali burning (all at P＞O.05).Corneal neovascularization occurred in 50％ mice in non-rinsing group in 14 days after acid burning.However,no neovascularization was seen in the mice of the solution 1 group,tap water group and solution 2 group in both acid and alkali burning mice.Conclusions Citric aciddisodium hydrogen phosphate buffer (pH 7.4) appears to be an effective emergency rinsing solution for corneal chemical burns and the rinsing solution with or without potassium chloride is not obviously affected to the prognosis of corneal chemical burns in the mice.

Objective Degenerative lumbar scoliosis is frequent clinic spine malformation ,and it is complicated by lumbar inter-vertebral disc ,joint of lumbar vertebra cataplasia and lumbar spinal stenosis .The aim of this paper is to study surgical therapeutic regimen for analyzing clinic feature of degenerative lumbar scoliosis .Methods We comprehended symptom and analyzed imageology feature for lumbar spinal stenosis through reviewing 48 cases of operation from August 2003 to August 2010 ,and then approached its therapeutic principle and regimen .Results There were good therapeutic effect on the basis of comprehending degenerative lum-bar scoliosis and designing different treatment plan by different case feature .Conclusion Ii is need to know degenerative lumbar scoliosis again ,in order to work out individual therapeutic regimen based on clinic feather ,process segment ,state of spinal stenosis , angle of lumbar scoliosis ,degree of vertebra rotation and lumbar destabilizing .

Objective To understand the current status of infections of intestinal parasites of population in Taixing City,Ji-angsu Province. Methods The infection rates and densities of human intestinal parasites were investigated according to the methods of the National Investigation Scheme on Human Principal Parasites,and the data of society,economy and disease con-trol were collected and analyzed. Results Among 2 556 people investigated in five villages,16 persons were found with intesti-nal parasites, with an infection rate of 0.63%. The infection rate was higher in residents with a low education level than in others and it was higher in the age group over 50 years than in the group under 50 years. The infection density was mild and the most was the single parasite infection. Conclusions The current status of intestinal parasite infections of population in Taixing City has reached the county-level control standard of Jiangsu Province. Therefore,the preventive strategy and measures should be ad-justed and the monitoring work should be strengthened.

Objective To investigate the consistency of M RI detecting posterior ligamentous complex (PLC) injury associated with thoracolumbar factures.Methods MRI data of 170 cases of thoracolumbar fractures were reviewed retrospectively.Each case underwent MRI around one week postinjury.MRI data were analyzed and compared by three physicians respectively to discuss the consistency in MRI detection of PLC injury and the severity of PLC injury.Results Kappa coefficient was 0.846 between observer 1 and 2,0.768 between observer 1 and 3,and 0.793 between observer 2 and 3.Interobserver reliability was high and overall Kappa coefficient was 0.803.Severity of PLC injury was interrelated with spinal cord nerve injury (P ＜ 0.05).Conclusions Accurate detection of PLC injury in thoracolumbar fractures is beneficial to clear the mechanical stability of the spine.MRI detection of PLC injury is of high consistency and hence deserves wide use.