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Objective:To investigate the clinical characteristics of two Han families with familial vitreous amyloidosis (FVA) and the gene mutation.Methods:A pedigree investigation was performed.Two Han Chinese families with FVA treated in Xiangya Hospital of Central South University from January 2015 to December 2018 were collected.General examination and ophthalmic examination were performed among 112 members of the two families.Peripheral blood samples were collected from 32 family members (15 patients in MZ001 pedigree, 7 patients in MZ002 pedigree, and 5 persons with normal clinical phenotype from each pedigree) for DNA extraction, polymerase chain reaction (PCR) amplification, transthyretin ( TTR) gene screening and sequencing.Vitreous biopsy following three-channel 23-gauge pars plana vitrectomy was performed on the two probands in the two families.Vitreous specimens were sent for pathological examination.This study adhered to the Declaration of Helsinki.The study protocol was approved by an Ethics Committee of Xiangya Hospital of Central South University (No.201412463), and written informed consent was obtained from all subjects before any medical examination. Results:In MZ001, there were 15 cases of the 63 members presented bilateral vitreous opacity at an average age of (43.6±5.8) years.No lesion was found in nervous system, cardiovascular system, kidney or liver in general inspection.The vitreous of the proband (Ⅲ13) was so sticky that could not be totally removed during vitrectomy.The vitreous specimen showed positive Congo red staining.Ⅲ13 had elevated intraocular pressure after vitrectomy and was diagnosed as open-angle glaucoma.Gene sequencing revealed Gly83Arg mutation in the exon 3 of TTR gene.In MZ002, 7 cases of 49 members had bilateral vitreous opacity at an average age of (50.4±5.5) years, among which, 3 cases appeared symptoms of limb numbness and decreased muscle strength.The vitreous body of the proband (Ⅱ11) in MZ002 pedigree was looser and easier to remove during vitrectomy than that of Ⅲ13 in MZ001 pedigree.Vitreous specimen of Ⅱ11 was positive with Congo red staining.Gene sequencing revealed an Ala36Pro variant in the exon 3 of TTR gene. Conclusions:Gly83Arg or Ala36Pro mutation of TTR gene can cause FVA.Different mutations can lead to different clinical phenotypes such as age of onset, clinical symptoms and complications of other systems.
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Objective To understand the epidemic status of alveolar echinococcosis in Tibetan children in south Qinghai Province. Methods The imageology and serology methods were applied to investigate the epidemic status of alveolar echinococ?cosis of elementary school students in Yushu and Guoluo prefectures. Results Totally 19 629 children were investigated by the portable B ultrasound and 221 children were diagnosed as alveolar echinococcosis with the morbidity of 1.13%. Totally 9 888 were investigated by the indirect ELISA,and the positive rate of serum tests was 12.59%(190/9 888). The total morbidity of al?veolar echinococcosis of children in Yushu Prefecture was 0.42%(31/7 454)and it was 1.57%(190/12 175)in Guoluo Prefec?ture and there was a significant difference between them(χ2=53.42,P0.05). The total morbidity of alveolar echinococcosis of children in different age groups was from 1.00%to 1.13%,and there was no significant difference among the age groups(χ2=2.73,P>0.05). The P1a type,P1b type and P2 type accounted for 67.76%(145/214),10.75%(23/214)and 16.36%(35/214)respectively among the alveolar echinococcosis patients. The diameters of nidus of 87.38%(187/214)patients were less than 5 cm,and 2.80%(6/214)were more than 10 cm. Conclusions The epidemic status of alveolar echinococcosis of Tibetan children in south Qinghai Province is serious,but most of the patients were at early stage of the disease. The screening work of al?veolar echinococcosis should be strengthened in Tibetan children,so as to perform the early diagnosis and treatment.
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Due to lack of the practical technique to measure the biomechanical properties of the ocular cornea in vivo, clinical ophthalmologists have some difficulties in understanding the deformation mechanism of the cornea under the action of physiological intraocular pressures. Using Young's theory analysis of the corneal deformation during applanation tonometry, the relation between the elasticity moduli of the cornea and the applanated corneal area and the measured and true intraocular pressures can be obtained. A new applanation technique has been developed for measuring the biomechanical properties of the ocular cornea tissue in vivo, which can simultaneously acquire the data of the applanation area and displacement of the corneal deformation as well as the exerted applanation force on the cornea. Experimental results on a rabbit's eyeball demonstrated that the present technique could be used to measure the elasticity moduli and creep properties of the ocular cornea nondestructively in vivo.
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Animales , Conejos , Fenómenos Biomecánicos , Córnea , Módulo de Elasticidad , Presión Intraocular , Músculos , Tonometría OcularRESUMEN
Objective To observe the efficacy and toxicity of low dose thalidomide combined with VAD regimen contained one-week dexamethasone in treatment on patients with multiple myeloma (MM). Methods 42 patients with MM were diagnosed in our hospital.The VAD regimen contained one-week dexamethasone was vincristine 0.4 mg/d, adramycin 10 mg/d and dexamethasone 40 mg/d for 4 days. At the same time, thalidomide is given 150-200 mg/d. Results The overall response rate (ORR) is 80.95%. Before and after treatment, all the detection indicators in MM patients were statistically different (P＜0.001). There is small adverse reactions. Conclusion Low dose thalidomide combined with VAD regimen contained one-week dexamethasone in treatment of MM has more merits such as less side effects, good tolerance, convenient administration and significant curative effects, so it should be recommended in clinical works.
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Objective To evaluate the effect and safety of the intermittent deferoxamine therapy on relieving iron overload caused by transfusion in senile. Method Twenty-three senile with iron overload caused by transfusion were administered in a total daily dose of 20 - 50 mg/ ( kg·d ) for 5 - 6 days per week every 4 -6 weeks,the maximal dose was 2000 mg/d, add in 0.9％ sodium chloride 500 ml, continuous intravenous drip for 6 h. Result Nine months after therapy, serum ferritin fell from (2771.5±735.3)μg/L to (2483.7 ±724.4) μg/L (P＜0.01), and urine ferritin elevated from (9.68 ±5.39)μg/L to (12.14±5.50) μ g/L (P＜0.01 ). Conclusion It shows that intermittent deferoxamine therapy can reduce the serum ferritin with no significant toxicity.
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Objective To compare the effects of Jianpi Shengxue Granule and Hexue Capsule in treating patients with iron deficiency anemia. Methods All 120 patients with iron deficiency anemia were randomly recruited into group A (treated with Jianpi Shengxue Granule) and group B (treated with Hexue Capsule), with 60 patients in each group. The levels of serum iron (Fe), total iron binding capacity (T IBC), transferrin saturation (TS), transferrin (Tf), ferritin (SF), hemoglobin (Hb) and serum soluble transferrin receptor(sTIR) were observed in both groups. Results Jianpi Shengxue Granule showed better results in treating patients with iron deficiency anemia than Hexue Capsule with significant difference (P<0.05). Conclusion Jianpi Shengxue Granule is effective in treating iron deficiency anemia.
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The aim is to investigate the effects of tumornecrosis factor ?(TNF?0 and interferon a(IFN?) on the cytotoxicity of mitomycin C(MMC) in vitro. The cytotoxicity of the three agents against gastric cancer cell line and freshly isolated gastric cancer cells were determined by the MTT assay. TNF? and/or IFN? (each 0~5000U/ml) showed cytotoxicity effects only on one of ten cell cultures dose-dependently; the combination resulted in a more significant effect. The combination of MMC with TNF? (30U/ml) or IFN?(l00U/ml) could enhance the cytotoxicity of MMC on two of three cell cultures synergisticly. When three agents were used together, the cytotoxicity of MMC against the ten cell cultures was enhanced synergisticly. TNF? and IFN? could enhance the cytotoxicity of MMC synergisticly, and this may make the cancer chemotherapy more effective.
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Objective: To investigate the correlation between the expression of vascular endothelial growth factor(VEGF) and angiogenesis in tumor. Methods: VEGF 165 sense and antisense gene recombinants were introduced into human gastric cancer cells, respectively. Then the growth of transfected cells in nude mice and the microvascular density and histological change were examined. Results: The growth rate of tumor in nude mice inoculated with sense VEGF cells was markedly higher than that in nude mice inoculated with antisense-VEGF cells. In histological examination, the microvascular density in tumor caused by sense-VEGF cells was greatly higher than that in tumor caused by antisense VEGF cells. Conclusion: As starting angiogenesis, VEGF might promote the growth of tumor, and the inhibition of VEGF production might prevent solid tumor from growing.
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The level of the in vitro synthesis of secretory immunoglobulin A (SIgA) was determined by the sissue culture of the endoscopically biopsied gastric mucosa from patients with noncancerous gastric diseases. The amount of SIgA synthesis in chronic superficial gastritis (4.35?0.32?g/mg) and chronic atrophic gastritis (4. 82?0. 22ug/mg) was higher than that in the normal stomach (2.76?0.21 ?g/mg) (p
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A new group of gastric cancer associated antigens in sera of patients with rectal cancer, benign diseases and normal human were detected by MG series monoclonal antibodies against gastric cancer. The average values of normal persons plus 3 standard deviations was set as the highest limit of normal value. The positive rate were 69.7% (23/33) in sera of patients with rectal cancer, and 4%(1/25) in sera of patients with benign diseases. The values of MG-Ags were decreased to normal level 8-10 days after surgical removal in 5 patients of rectal cancer. The results of test suggest that determination of MG-Ags in serum of patients might be helpful in the diagnosis of rectal carcinoma.