Objective To investigate the feasibility of DNA sequencing analysis in molecular diagnosis for spinal muscular atrophy (SMA). Methods Two pairs of primers were utilized to amplify the region including 5 different bases in SMA-causative gene SMN1 and its homologue copy SMN2 by polymerase chain reaction (PCR). The first primer amplified a fragment 501 bp long spanning from SMN intron 6 to intron 7 targeting four different bases (g.31957, 32006, 32154 and 32269). The second primer reversely amplified a 189 bp long fragment within SMN exon 8 including one base-pair differ-ence (g.32734). PCR procedure was followed by Sanger sequencing technique to identify the 5 different bases. SMA patients caused by SMN1 homozygous deletion were distinguished from carriers or normal controls by absence of SMN1 specific bas-es in sequence chromatograms. This assay was performed in 7 SMA suspected patients and their parents. The specimens were also detected by PCR- restriction fragment length polymorphism (RFLP) method. Results It was found that 6 of 7 SMA suspected patients showed only SMN2 specific bases at the 5 different base positions among the region from intron 6 to exon 8, which meant the patient displaying only SMN2-specific nucleotide a, T, g, g and A at g.31957, 32006, 32154, 32269 and 32734, while their parents (carriers) showed a/g, T/C, g/a, g/a and A/G at the same sites. SMN1 gene was deleted in the patient, and the deletion region was inferred from intron 6 to exon 8. Because carriers had both SMN1 and SMN2 genes, they can be discriminated from the SMN1 deleted patient. One of 7 patients yield an unique sequence chromatogram of a, T, g, g and A/G, indicating that exon 8 of SMN1 was not deleted in this patient. Conclusion DNA sequencing analysis is an alter-native simple method for detecting SMA caused by homozygous deletion of SMN1. We recommend to replace the widely used PCR-RFLP method with DNA sequencing assay.

Objective To sum up the characteristics of hemorrhagic fever with renal syndrome(HFRS)and acute pancreatitis,to improve the understanding of the cases of atypical HFRS,reduce the misdiagnosis rate and improve the cure rate.Methods 3 cases of HFRS complicated with acute pancreatitis in our hospital from 2011 to 2015 were retrospectively analyzed.Results 3 cases were middle -aged men,with an average age of 46.6,of which two cases occurred in Huangling county in the city,the remaining 1 case occurred in Yichuan county of the city. Occupation was the railway workers,drivers,farmers.Respectively occurred in February,July,December.3 cases of blood routine,urine routine,blood coagulation performance were consistent performance for RBC,WBC,PLT decrease;hematuria,proteinuria;3 cases of plasma amylase were higher than that of more than 3 times the normal value,the serum lipase was higher than the more than 3 times the normal value;hemorrhagic fever antibodies were positive;treatment of 2 cases with hemodialysis treatment,1 case underwent intestinal dialysis treatment,successful treatment of all.Conclusion HFRS with acute pancreatitis patients were less,easy to be misdiagnosed or ignored,easy illness of incur loss through delay and once with acute pancreatitis will add to the original condition,treatment more difficult tend to have higher mortality rate.It should be according to the clinical manifestations,early blood and urine amylase, abdominal B ultrasound and CT examinations of the abdomen as soon as possible,to improve the accuracy of diagnosis, take appropriate treatment measures,especially blood dialysis treatment,can reduce the mortality rate.

Placenta implantation is a rare but dangerous postpartum complication. In this study, 17 cases of placenta implantation were allocated to two groups. The treatment group?(9?cases)was treated with modified Xuefu Zhuyu Decoction on the basis of intravenous drip of methotrexate. The control group(8?cases)was treated with intravenous drip of methotrexate combined with oxytocin and antibiotic. The results showed that all of the cases in the treatment group were cured and no one case received uterine curettage or uterectomy.But in the control group,5 received uterine curettage and 1 total uterectomy. It is indicated that Chinese herbal medicine combined with western medicine is a better therapy for placenta implantation.

Objective To investigate the clinical characteristics, pathological features and surgical indications of polypoid lesions of the gallbladder (PLG). Methods The clinical data of 267 patients with PLG confirmed by pathological examination were analyzed retrospectively. Results PLG was found more frequently in young and middle-aged people. Of the 267 patients, 166 were male and 101female. There were 241 cases with cholesterol polyps(CPs) (90. 3%). CPs were the most common PLG, but they presented no special clinical features. Conclusion CPs are dominant in PLG. Patients older than 60 years with a single polyp lesion or gallbladder stone complications should resort to surgical treatment. Patients with no symptoms and PLG of less than 10mm should be followed up periodically. Cholecystectomy for PLG should be performed based on strict indications of PLG.

Objective To investigate the clinical values of antineutrophil cytoplasmic antibody (ANCA) detection in the diagnosis of rheumatic diseases .Methods 965 patients with rheumatic diseases were taken as rheumatic group ,including 256 cases of SLE , 124 of mixed connective tissue disease(MCTD) ,336 of rheumatoid arthritis(RA) ,166 of Sjogren′s Syndrome(SS) ,45 of systemic sclerosis(SSc) and 38 of dermatomyositis .400 healthy people were served as the control group .Indirect immunofluorescence (IIF) was employed to detect the cytoplasmic ANCA (c-ANCA ) ,perinuclear ANCA (p-ANCA ) .Enzyme-linked immunosorbent assay (ELISA) was utilized to assay the anti-myeloperoxidase(MPO) antibody among patients with positive ANCA .Results Difference of positive rates of serum ANCA of subjects in rheumatic group and control group showed statistical significance (P<0 .01) ,and the differences of positive rates of serum p-ANCA and c-ANCA of subjects with positive ANCA between the two group were also sta-tistically significant(P<0 .01) .The positive rate of serum p-ANCA of patients with SLE was markedly higher than those with MCTD ,RA ,SS ,SSc ,dermatomyositis and healthy people in control group (P< 0 .05) ,while that of patients with MCTD was obviously higher than those with RA ,SS ,SSc ,dermatomyositis and healthy people in control group (P<0 .05) .The positive rate of anti-MPO antibody of 165 patients with positive ANCA in rheumatic group was 58 .4% ,which was significantly higher than that in control group(3% )(P<0 .01) .The positive rate of patients with positive ANCA and impaired renal function in rheumatic group was 55 .4% ,which was obviously higher than those of patients with negative ANCA in rheumatic group (21 .8% ) and control group (6 .25% )(P<0 .01) .Conclusion Serum ANCA detection is of important significance for prevention of nephrotoxic damage in pa-tients with rheumatic diseases .

Object To provide a basis for the identification and development of Echinacea angustifolia DC Methods Pharmacognostical studies were carried out by phytotomy, macroscopic and microscopic analysis Results Detailed description of its pharmacognostical characteristics were accomplished and described Conclusion The results can be used for quality standardization of commercial product of E angustifolia

Tyrosinase is a key enzyme related to skin pigmentation disorders of elderly people, while self-aggregation of the amyloid-beta peptide, Abeta42, has been considered as a key event in the pathogenesis of Alzheimer's disease (AD). The present study was undertaken to investigate the inhibitory effects of 20 samples from Rhodiola species on tyrosinase and Abeta42 aggregation, and to isolate their corresponding bioactive components. The results demonstrated that the oligomeric proanthocyanidins (OPCs) commonly found in Rhodiola species were the major bioactive components corresponding to their anti-tyrosinase and anti-Abeta42 aggregation bioactivities. Salidroside, a representative compound of Rhodiola plants, proved not to be active in the present studies.

Objective To investigate the clinical characteristics and the causative mechanism of acetabular fracture and dislocation of hip complicated with sciatic nerve injuries. Methods A retrospective analysis was done for 155 cases (159 sides) of acetabular fracture, dislocation of hip, or acetabular fracture combined with hip dislocation, 35 of which were complicated with sciatic nerve injuries. The epidemiological features of acetabular fracture and hip dislocation, the incidence, and relationship between sciatic nerve injury and classifications of acetabular fracture and dislocation of hip were analyzed. Results 81.3%of the patients were male. The ages of 86.5%of the patients ranged from 20 to 50 years old. 83.9%of the cases were injured in traffic accidents. The incidence of sciatic nerve injury was 22.01%in all the patients, 17.19%in patients with acetabular fracture, 12.90%in patients with posterior wall, and 36.36%in patients with acetabular fracture combined with posterior dislocation of hip. Conclusions A road traffic accident is the major causative factor for acetabular fracture and dislocation of hip. Most victims are male. Sciatic nerve injuries largely happen in cases of acetabular posterior wall fracture and posterior column fractures combined with posterior dislocation of hip. Peroneal nerve injuries are the most common type of sciatic nerve injury.

Objective To investigate the preventive effect of spironolactone on hepatic fibrosis. Methods Ninety SD rats were randomly divided into three groups. Control group consisted of 8 rats that , fed by normal food, were injected with peanut oil subcutaneously. Model group consisted of 42 rats whose liver fibrosis was induced by compound factors. Spiro nolactone-prevention group consisted of 40 rats that were given 100 mg?kg -1 spironolactone per day, by the same methods of making models as those of the model group. At the end of weeks 2, 4, 6 and 8, 8 rats were randomly taken out of model group and spironol actone group and then were sacrificed. The expressions of TGF- ? 1 , PDGF- BB and ? -SMA in hepatic tissues were detected with immunohistochemical met hods. Results The expressions of TGF- ? 1 , PDGF-BB a nd ? -SMA in spironolactone group decreased greatly than those in model gro up ( P

Objective To investigate the expression of nuclear factor-kappa Bp65 (NF-κBp65)and Toll-like receptor 4(TLR4)protein in the brain tissues of 7-day-old Sprague-Dawley(SD) rats with cerebral hypoxia-ischemia encephalopathy (HIE) and to explore the role of TLR4 and NF-κBp65 in the pathogenesis of neonatal rats with hypoxic-ischemic brain damage.Methods Seven-day SD rats were randomly divided into the experimental group and the control group.Brain pathological changes were observed in light microscopy at 6 h、12 h、24 h、72 h、7 d after HIE.The expression of TLR4 and NF-κBp65 in brain tissues were analyzed by immunohistochemistry method.Results NF-κBp65 and TLR4 were expressed in the neuron and microglia of control group and experimental group.The expression were most significant at cerebral cortex and hippocamp.However,the expression of NF-κBp65and TLR4 began to increase at HIE 6h:NF-κBp65 (0.219 3 ± 0.024 7,0.215 7 ±0.030 4)and TLR4(0.327 1 ±0.033 3,0.303 9 ±0.037 9),and achieved the hightest at HIE 24h:NF-κBp65 (0.3564±0.0235,0.3365 ±0.023 2)and TLR4(0.434 2 ±0.0428,0.4193 ±0.041 3),then decreased at HIE 72 h:NF-κBp65 (0.289 2 ± 0.032 0,0.260 9 ± 0.021 2) and TLR4 (0.300 5 ± 0.020 9,0.282 0 ± 0.022 6),and HIE 7 d:NF-κBp65(0.247 9 ±0.0340,0.242 1 ±0.025 4) and TLR4(0.274 4 ±0.0288,0.257 1 ±0.027 5).Conclusion There is a positive correlation between NF-κBp65 and TLR4 in rats with HIE.It suggested that they may have the same pathophysiology development in HIE.