INTRODUCTIONHereditary spastic paraplegia (HSP) belongs to a large, heterogeneous group of progressive neurodegenerative diseases characterised by progressive lower extremity weakness and spasticity, which is caused by developmental failure or degeneration of motor axons in the corticospinal tract. Classical genetic studies have identified at least 46 genetic loci responsible for HSP.

METHODSA genetic study was conducted on a four-generation Chinese family with autosomal dominant HSP. The SPAST gene was investigated using linkage analysis and direct sequencing. Findings were compared with unaffected family members and 50 normal, unaffected individuals who were matched for geographical ancestry.

RESULTSWe identified a novel 14-bp heterozygous deletion that induced a frameshift mutation in exon 15 of SPAST (SPG4). This mutation is predicted to have functional impact and found to cosegregate with the disease phenotype.

CONCLUSIONOur results have expanded the mutation spectrum of the SPAST gene. These findings could help clinicians provide prenatal diagnosis of affected foetuses in families with a known history of such neurodegenerative diseases.

Adenosine Triphosphatases ; genetics ; Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; China ; Exons ; Family Health ; Female ; Frameshift Mutation ; Gene Deletion ; Genetic Linkage ; Genetic Predisposition to Disease ; Heterozygote ; Humans ; Infant ; Male ; Middle Aged ; Pedigree ; Phenotype ; Sequence Analysis, DNA ; Spastic Paraplegia, Hereditary ; diagnosis ; genetics ; Spastin ; Young Adult

OBJECTIVETo investigate the effects of Osthol on the proliferation and differentiation of osteoblasts of rats (rat calvarial osteoblasts, ROB) cultured in vitro.

METHODSThe neonatal SD rat skull was segregated, and enzyme digestion was used to obtain bone cells which were cultured in MEM containing 10% FBS. The medium was changed every three days, and serial subcultivation was performed when cells covered with 90% of the culture dish. The Osthol was added to 96-well plates with final concentration of 1 x 10(-4) mol/L, 1 x 10(-5) mol/L, 1 x l0(-6) mol/L and 1 x10(-7) mol/L, and MTT method was used to evaluate the proliferation. Differentiation analysis: the alkaline phosphatase (ALP) activity was determined at the 3rd, 6th, 9th, 12th and 15th days separately after osteogenic induction culture. The synthesis of type I collagen was observed using immunohistochemical method at the 8th day. The ALP stain was performed at the 12th day. The alizarin red staining was done and calcified nodules was counted at the 14th day.

RESULTSThe Osthol with final concentration of 1 x 10(-4) mo/L inhibit the proliferation of ROB. The Osthol with final concentration of 1 x 10(-5) mol/L had no obvious influence on the proliferation of ROB, but it significantly promoted the activity of ALP, enhanced the synthesis of collagen type I and increased the number of calcified nodules.

CONCLUSIONThe Osthol with final concentration of 1 x 10(-5) mol/L can promote differentiation and maturation of ROB, which may be active ingredients of Chinese drugs for the osteoporosis prophylaxis.

Alkaline Phosphatase ; metabolism ; Animals ; Cell Differentiation ; drug effects ; Cell Proliferation ; drug effects ; Cells, Cultured ; Coumarins ; pharmacology ; Female ; Male ; Osteoblasts ; cytology ; drug effects ; Rats ; Rats, Sprague-Dawley

BACKGROUNDDisease recurrence is a main challenge in treatment of hepatocellular carcinoma (HCC). There is no generally accepted method for preventing recurrence of HCC after resection.

OBJECTIVETo compare the efficacy of a traditional herbal medicine (THM) regimen and transarterial chemoembolization (TACE) in preventing recurrence in post-resection patients with small HCC.

DESIGN, SETTING, PARTICIPANTS AND INTERVENTIONSThis is a multicenter, open-label, randomized, controlled study, which was undertaken in five centers of China. A total of 379 patients who met the eligibility criteria and underwent randomization were enrolled in this trial. One hundred and eighty-eight patients were assigned to the THM group and received Cinobufacini injection and Jiedu Granule, and the other 191 patients were assigned to the TACE group and received one single course of TACE.

MAIN OUTCOME MEASURESPrimary outcome measures were the annual recurrence rate and the time to recurrence. Incidence of adverse events was regarded as the secondary outcome measure.

RESULTSAmong the 364 patients who were included in the intention-to-treat analysis, 67 patients of the THM group and 87 of the TACE group had recurrence, with a hazard ratio of 0.695 (P = 0.048). Median recurrence-free survival of the patients in the THM and TACE groups was 46.89 and 34.49 months, respectively. Recurrence rates at 1, 2 and 3 years were 17.7%, 33.0% and 43.5% for the THM group, and 28.8%, 42.5% and 54.0% for the TACE group, respectively (P = 0.026). Multivariate analysis indicated that the THM regimen had a big advantage for prolonging the recurrence-free survival. Adverse events were mild and abnormality of laboratory indices of the two groups were similar.

CONCLUSIONIn comparison with TACE therapy, the THM regimen was associated with diminished risk of recurrence of small-sized HCC after resection, with comparable adverse events. TRIAL REGISTRTION IDENTIFIER: This trial was registered in the Chinese Clinical Trial Registry with the identifier ChiCTR-TRC-07000033.

Adult ; Aged ; Antineoplastic Agents ; administration & dosage ; Carcinoma, Hepatocellular ; drug therapy ; pathology ; prevention & control ; surgery ; Chemoembolization, Therapeutic ; Drugs, Chinese Herbal ; administration & dosage ; Female ; Humans ; Liver Neoplasms ; drug therapy ; pathology ; prevention & control ; surgery ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Survival Rate ; Young Adult

OBJECTIVETo provide a mathematical set-based method for evaluating drug release kinetics of multi-component traditional Chinese medicine preparations.

METHODWith Fuzheng Huayu prescription as the study model, a mathematical set-based method for evaluating drug release kinetics was established to guide the preparation of drug release system of Fuzheng Huayu prescription, and a quantitative evaluation was made for its multi-component drug release characteristics. Its accuracy was verified by Kalman filtering method.

RESULTThe comparison between the two showed that the sample No. 4 of Fuzheng Huayu drug release system showed synchronized drug release with its reference preparation Fuzheng Huayu capsules.

CONCLUSIONThe results verified the accuracy and rationality of the evaluation method based on mathematics set. Meanwhile, it displayed the release of target preparations according to asynchronous coefficient (k) and other parameters, and found the orientation of regulating and improving the unit drug release dosage from relevant error parameters of various characteristic peak information, in order to purposefully regulate relevant components, and enable target preparations to meet the synchronized drug release requirements of the reference preparation. Meanwhile, it provided an effective measure for evaluating the quantitative characterization and synchronized release behavior of multi-component traditional Chinese medicines.

Capsules ; Chemistry, Pharmaceutical ; Chromatography, High Pressure Liquid ; Drugs, Chinese Herbal ; administration & dosage ; chemistry ; Filtration ; Humans ; Kinetics ; Medicine, Chinese Traditional ; Models, Theoretical

Objective To evaluate the association between diabetic retinopathy (DR) and mean ocular perfusion pressure (MOPP) in patients with type 2 diabetes mellitus (T2DM).Methods Patients from the Fushun Diabetic Retinopathy Cohort Study (FS-DIRECT), a communitybased prospective cohort study conducted in northeast China, were included in this study. The presence and severity of DR were determined by grading fundus photographs according to the Early Treatment Diabetic Retinopathy Study (ETDRS) retinopathy scale. Systolic and diastolic blood pressure (SBP and DBP) were recorded using an electronic sphygmomanometer. Intraocular pressure (IOP) was measured using an iCare rebound tonometer. MOPP was calculated using the formula MOPP = 2/3 [DBP + 1/3(SBP ? DBP)] ? IOP.Results In total, 1,857 patients who had gradable fundus photography and MOPP data were enrolled in this study. Male patients had a higher MOPP than female patients (52.25 ± 8.75 vs. 50.96 ± 8.74mmHg, P = 0.002). Overall, both male and female patients with any type of DR, non-proliferative DR (NPDR), or non-sight-threatening DR (non-STDR) had significantly higher MOPP relative to patients without DR. Increased MOPP (per 1 mmHg) was in turn associated with the presence of any type of DR [odds ratio (OR) = 1.03, 95％ confidence interval (CI) : 1.02–1.04], NPDR (OR = 1.0395％ CI: 1.02–1.04),and non-STDR (OR = 1.03, 95％ CI: 1.01–1.04) after adjusting for confounders. Increased MOPP (per 1 mmHg) was also associated with an increased likelihood of macular edema (OR = 1.02, 95％ CI:1.01–1.04).Conclusions The results suggest that increased MOPP was associated with DR and macular edema in northeastern Chinese patients with T2DM.

OBJECTIVETo describe the status of nutrition and health related indices in the Chinese population.

METHODSA stratified multi-stage cluster sampling was used from 31 provinces, autonomous regions, and municipalities. The survey was done in 2002, including data gathered from questionnaires, interviews, physical examinations, measurement of biochemical indices, and dietary investigation.

RESULTSCereals accounted for 48.5% of all the sources of energy in urban and 61.4% in rural populations. Daily mean percentages of calories for total fat were 35.0% in urban and 27.5% in rural areas. The prevalence rates of stunting and underweight were 14.3% and 7.8% respectively in young children under 5-year-old. The prevalence of vitamin A deficiency was 9.3% in Chinese children aged 3-12 years old. The total prevalence of anemia was 15.2% in general population of all ages. The prevalence of anemia in young adults was significantly higher in women than in men. The total prevalence rates of overweight and obesity were 17.6% and 5.6%, respectively. The prevalence rates of hypertension, diabetes, hypercholesteremia, hypertriglyceridemia, or low serum high density lipoprotein cholesterol were 18.8%, 2.6%, 2.9%, 11.9%, 7.4% respectively in Chinese adults aged 18 and over. The rates of awareness, treatment, and under control among hypertensives were 30.2%, 24.7%, and 25.0%, respectively. Significant regional and age differences were revealed in the dietary habit and the prevalence of various diseases. The prevalence of diseases associated with malnutrition were higher in rural than in urban areas. In contrast, the prevalence of conditions associated with overconsumption and inappropriate dietary patterns were higher in urban than in rural populations.

CONCLUSIONChinese people were currently suffering from both problems on nutrition related issues and burdens of diseases which were characterized in nutrient deficiencies and overconsumption, malnutrition and noncommunicable conditions associated with overconsumption and inappropriate diet. The difference of nutrition and health status between rural and urban people was also seen.

Adolescent ; Adult ; Anemia ; epidemiology ; Child ; Child, Preschool ; China ; Chronic Disease ; epidemiology ; Diabetes Mellitus ; epidemiology ; Diet ; statistics & numerical data ; Eating ; Energy Intake ; Female ; Growth and Development ; Health Surveys ; Humans ; Hypertension ; epidemiology ; Infant ; Lipids ; blood ; Male ; Middle Aged ; Nutrition Surveys ; Obesity ; epidemiology ; Pregnancy ; Vitamin A Deficiency ; epidemiology ; Young Adult

This study is to investigate the effects on the expression of iNOS and production of NO in the osteogenic differentiation process of rat bone marrow stromal cells (rBMSCs) by icariside II. rBMSCs were cultured by adherence screening method. When the culture dishes were covered with 80% cells, the osteogenic induced cultures were adopted. Icariside II was supplemented into the culture at 1 x 10(-5) mol x L(-1). The activity of iNOS, content of NO and osteogenic differentiation markers including alkaline phosphatase (ALP) activity, CFU-FALP and mineralized bone nodules were compared among the icariside II-supplemented group, L-NMAE group, icariside II + L-NAME group and the control. Total RNA was isolated and the gene expression of iNOS, Osterix and Runx-2 was investigated by real-time PCR. Total protein was also isolated and the secretion of iNOS and collagen I was examined by Western blotting. Icariside II can significantly improved ALP activity, CFU-FALP amount and mineralized nodules. Besides, the mRNA level of factors related to the osteogenic differentiation includes Osterix and Runx-2 also enhanced. The secretion of collagen I also promoted significantly. But all of these effects can be inhibited by L-NAME which can specifically inhibit the activity of iNOS. Icariside II enhances the osteogenic differentiation of rBMSCs significantly, but if the activity of iNOS was blocked by L-NAME, the osteogenic differentiation markers decrease accompanied with iNOS and NO decrease, suggesting that icariside II stimulates the osteogenic differentiation via enhancing the activity of iNOS and promoting the generation of NO.
Alkaline Phosphatase ; metabolism ; Animals ; Cell Differentiation ; drug effects ; Cells, Cultured ; Collagen Type I ; metabolism ; Core Binding Factor Alpha 1 Subunit ; genetics ; metabolism ; Enzyme Inhibitors ; pharmacology ; Flavonoids ; pharmacology ; Male ; Mesenchymal Stromal Cells ; cytology ; metabolism ; NG-Nitroarginine Methyl Ester ; pharmacology ; Nitric Oxide ; metabolism ; Nitric Oxide Synthase Type II ; genetics ; metabolism ; Osteogenesis ; drug effects ; RNA, Messenger ; metabolism ; Rats ; Rats, Wistar ; Transcription Factors ; genetics ; metabolism

Objective:To examine the prognosis of preretinal hemorrhage following vitrectomy and silicone oil tamponade for severe proliferative diabetic retinopathy . Methods: Clinical data of 76 cases of proliferative diabetic retinopathy treated with vitrectomy and silicone oil infusion tamponade in Sir Run Run Shaw Hospital from October 2006 to September 2013 were retrospectively reviewed .Intraoperative bleeding , postoperative preretinal bleeding , blood reabsorption time , and preretinal fibrosis were assessed .Results: All preretinal hemorrhage developed within 1 week after surgery , blood was distributed in thin and scattered patterns ( 32 cases ) , thick and localized patterns ( 25 cases ) or thick and scattered patterns ( 19 cases ) . The preretinal hemorrhage was ceased in 1 day after operation in 35 cases, in 2 days after operation in 18 cases, in two weeks after operation in 23 case.Recurrent hemorrhage occurred within 1 week after operation in 15 cases.Thin blood was largely reabsorbed in about two weeks , and thick blood was largely reabsorbed in about five weeks .Fibrosis tissue was resulted in 15 cases(34.1%) with thick blood.Conclusion: Most of preretinal hemorrhage occurs within 1 week after surgery and is reabsorpted with 5 weeks in patients with proliferative diabetic retinopathy undergoing vitrectomy and silicone oil tamponade .The major complication of preretinal bleeding is the formation of preretinal fibrosis.

This study is to observe the protection effect of amentoflavone (AMT) in Selaginella tamariscina against TNF-alpha-induced vascular inflammation injury of endothelial cells. On the basis of TNF-alpha induced human umbilical vein endothelial cell, observe the influence of AMT on endothelial active factor, the contents of SOD and MDA, the protein expression of vascular endothelial adhesion molecules and inflammatory factor; study the effect of its common related signal pathways such as NF-kappaB; research the effect of AMT against TNF-a induced human umbilical vein endothelial cell injury by means of MTT, ELISA, Western blotting and the cell immunofluorescence. The results showed that AMT could increase the content of NO and decrease the levels of VCAM-1, E-selectin, IL-6, IL-8 and ET-1; enhance the activity of SOD, reduce the content of MDA; downregulate the protein expressions of VCAM-1, E-selectin, NF-kappaBp65 and up-regulate IkappaBalpha, attenuate the NF-kappaBp65 transfer to cell nucleus. AMT has the effect of protect vascular endothelial and maybe via the signal pathway of NF-kappaB to down-regulate the inflammation factor and oxidative damage factor of downstream.
Biflavonoids ; isolation & purification ; pharmacology ; Cell Cycle ; drug effects ; Cell Survival ; drug effects ; E-Selectin ; metabolism ; Endothelin-1 ; metabolism ; Human Umbilical Vein Endothelial Cells ; Humans ; I-kappa B Proteins ; metabolism ; Interleukin-6 ; metabolism ; Interleukin-8 ; metabolism ; Malondialdehyde ; metabolism ; NF-KappaB Inhibitor alpha ; Nitric Oxide ; metabolism ; Plants, Medicinal ; chemistry ; Protective Agents ; isolation & purification ; pharmacology ; Selaginellaceae ; chemistry ; Superoxide Dismutase ; metabolism ; Transcription Factor RelA ; metabolism ; Tumor Necrosis Factor-alpha ; adverse effects ; Vascular Cell Adhesion Molecule-1 ; metabolism

OBJECTIVETo examine the prognosis of preretinal hemorrhage following vitrectomy and silicone oil tamponade for severe proliferative diabetic retinopathy.

METHODSClinical data of 76 cases of proliferative diabetic retinopathy treated with vitrectomy and silicone oil infusion tamponade in Sir Run Run Shaw Hospital from October 2006 to September 2013 were retrospectively reviewed. Intraoperative bleeding,postoperative preretinal bleeding,blood reabsorption time, and preretinal fibrosis were assessed.

RESULTSAll preretinal hemorrhage developed within 1 week after surgery, blood was distributed in thin and scattered patterns (32 cases), thick and localized patterns (25 cases) or thick and scattered patterns (19 cases). The preretinal hemorrhage was ceased in 1 day after operation in 35 cases, in 2 days after operation in 18 cases, in two weeks after operation in 23 case. Recurrent hemorrhage occurred within 1 week after operation in 15 cases. Thin blood was largely reabsorbed in about two weeks, and thick blood was largely reabsorbed in about five weeks. Fibrosis tissue was resulted in 15 cases(34.1%) with thick blood.

CONCLUSIONMost of preretinal hemorrhage occurs within 1 week after surgery and is reabsorpted with 5 weeks in patients with proliferative diabetic retinopathy undergoing vitrectomy and silicone oil tamponade. The major complication of preretinal bleeding is the formation of preretinal fibrosis.

Diabetic Retinopathy ; surgery ; Fibrosis ; Humans ; Postoperative Complications ; Prognosis ; Retrospective Studies ; Silicone Oils ; therapeutic use ; Vitrectomy ; Vitreous Hemorrhage ; epidemiology