Objective To clarify the clinical features,therapeutic strategy and prognosis of lipid storage myopathy (LSM).Methods The clinical data and therapeutic effects of 42 LSM patients were summarized retrospectively.All patients were followed up to evaluate their prognosis.Results Data of short-term therapeutic results of all the 42 patients were available.Thirty-three cases were placed in low- doses prednisone and 9 cases in riboflavin.All patients showed marked and quick improvement of symptoms within one month.Among thirty-two patients followed up for more than one year,26 cases had a full recovery and 6 remained to have intolerance to heavy exercise.Thirteen patients had relapses of muscle weakness in various degrees and most of which were induced by exertion,exposure to coldness and upper respiratory tract infection.In 5 patients the symptoms were recurred for more than one time.Among 13 cases with relapses, 7 had family history.Conclusions Our data suggest that LSM is a treatable disease and well responsive to low-doses prednisone.The disease tends to recur,especially in patients with family history.Glutaric aciduria type Ⅱ should be considered in LSM patients who are responsive well to riboflavin,indicating drug therapeutic strategy for LSM should be based on the etiology of the disease.

Objective To investigate the clinical,neuroimaging and myopathological features of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes(MELAS).Methods The clinical manifestations,neuroimaging and myopathological features of 31 patients with MELAS diagnosed in our Neuromuscular Center in the recent 7 years were retrospectively analyzed.A3243G point mutations were analyzed by RFLP method in 10 patients.Results ①Clinical features:There were 18 male patients and 13 female patients.The age of onset ranged from 3 to 43 years,averaging 21.9 years.The averaged duration was 4.9 years.Thirteen patients in this group had family history of maternal inheritance pattern.The main clinical manifestations included short stature(26 patients),recurrent headache and vomiting(24 patients), muscle weakness(22 patients),epileptic seizure(21 patients),cognitive decline(19 patients),visual disturbance(17 patients),sensorineural deafness(16 patients),ataxia(6 patients),psychiatric symptom (8 patients),external ophathalmoplegia(2 patients)and diabetes mellitus(9 patients).The serum CK level was slightly elevated in 6 patients,and the fasting blood lactic acid was increased in 15 of the 18 detected patients.②Neuroimaging features:The stroke-like lesions were mostly confined to cerebral cortex, including temporal lobe(24 patients),occipital lobe(21 patients),parietal lobe(12 patients)and frontal lobe(4 patients).Three patients had deep white matter involvement.Migrating stroke-like lesions were confirmed in 4 patients by repeated cranial CT/MRI examination.In addition,cerebral atrophy(17 patients)and bilateral basilar ganglion calcification(11 patients)were found.③Myopathological features: Scattered ragged red fibers(RRF)in various number were found in all the patients by MGT staining.Other founding included strongly SDH-reactive blood vessel(27 patients),COX enzyme deficiency(19 patients), and mild to moderate lipid storage in RRF(20 patients).④MtDNA analysis showed 9 patients with A3243G point mutation in all the detected 13 patients.Conclusion The clinical and neuroimaging features may offer important clue to the diagnosis of MELAS,but a definite diagnosis of MELAS relies on the myopathology and mtDNA mutation analysis.

·AIM:To evaluate and characterize the macular thickness and macular volume in patients of different stages of diabetic retinopathy with special - domain optical coherence tomography( SD-OCT) .·METHODS: Totally 40 patients ( 78 eyes ) with diabetic retinopathy were recruited in the study from January 2016 to January 2017 in our hospital. According to the international clinical classification of diabetic retinopathy, 20 cases (40 eyes) were categorized as non-proliferative diabetic retinopathy ( NPDR ) group and 20 cases proliferative diabetic retinopathy (PDR) group (38 eyes). All subjects were examined and analyzed with Early Treatment Diabetic Retinopathy Study ( ETDRS ) subfields, which were embedded in HS ( Haag-Streit ) with diameter of 1, 3 and 6mm. The changes of retinal thickness and volume of the macular center were measured.·RESULTS: The thickness of macular foveolar in NPDR group and PDR group were 252. 57 ± 31. 36μm, 362. 47 ± 20. 81μm. The retinal thickness of inner superior subfield (ISM) and inner nasal subfield(INM) were the thickest;that of inner inferior subfield ( IIM ) was next to ISM and INM, and that of inner temporal subfield was the thinnest. Of the outer subfields, the retinal thickness of outer superior subfield ( OSM ) was the thickest;that of outer nasal subfield( ONM) was next to OSM, and that of outer temporal subfield(OTM)and outer inferior subfield ( OIM ) was the thinnest. The value of macular central concave thickness and retinal thickness in each quadrant of the NPDR group were less than those of the PDR group, the difference was statistically significant ( P <0. 05). The volume (V) of macular center in NPDR group and PDR group were 0. 20±0. 02mm3, 0. 28±0. 16mm3, the upper and nasal sides of the middle part of the partition were the largest, the inferior and the temporal side were the smallest. The nasal side of the outer loop was the largest, the upper was the second, the temporal side and the inferior were the smallest. The volume of macular central fovea and the retinal volume in each quadrant of the NPDR group were smaller than those of the PDR group, the difference was statistically significant (P<0. 05).·CONCLUSION: The changes of retinal thickness and volume in macular central fovea were related with the progression of diabetic retinopathy. Using OCT to analyze the macular thickness and macular volume in different stages of diabetic retinopathy, helps physicians to understand the morphological changes of macular region and its surrounding macular degeneration with the severity of diabetic retinopathy, and provide a basis for better analysis of the changes of the structure of macular in different severity diabetic retinopathy.

AIM:To observe whether differences exist in the retinal arteriovenous circulation time of the patients with diabetic retinopathy and exploring whether there is any correlation between the injured degree of retinal vessel and the microcirculation time.METHODS:The study was conducted from the March 2016 to the March 2017 in order to analyze the clinical data on 60 eyes of 60 patients who were diagnosed with diabetic retinopathy by Xuanwu Hospital of Capital Medical University.According to the result,patients were divided into mild and moderate nonproliferative diabetic retinopathy (NPDR) group,severe NPDR group and proliferative diabetic retinopathy(PDR) group with 20 eyes respectively.Then we recorded the retinal arterial developing time of the three groups,namely arm-to-retinal circulation time (A1),retinal arterial branch filling time (A2),retinal venous branch laminar flow time (V1),retinal venous branch filling time (V2).RESULTS:The findings showed that there was no statistical difference among 3 groups in the retinal arterial passage time(A2-A1) (F=1.642,P=0.157).Retinal capillary passage time (V1-A2),retinal vein passage time (V2-V1),retinal artery and vein passage time (V2-A1) were compared between the three groups,the difference was statistically significant (F=5.794,5.180,5.564,P=0.007,0.009,0.008).The PDR group was significantly longer than the mild moderate and severe NPDR group,and the severe NPDR group was significantly longer than the mild and moderate NPDR group.CONCLUSION:The duration of DR is longer,the degree is more severely.The destruction of retinal capillaries is more serious,the time of retinal microcirculation is longer.

OBJECTIVETo evaluate the safety and efficacy between endoscopic papillary balloon dilatation (EPBD) and endoscopic sphincteropapillotomy ( EST) for common bile duct stones using meta-analysis method.

METHODSRandomizd controlled trials comparing EPBD with EST for common bile duct stones and published from January 1990 to July 2012 were recruited. This meta-analysis was conducted to estimate short-term and long-term complications. Fixed random effect model or random effect model was established to analyze the data.

RESULTSTwelve randomizd controlled trials were included in this analysis. These studies included 1865 patients, 925 of them were treated with EPBD and 940 were treated with EST. The analysis of basic characteristics of these included studies showed that: compared to EST, patients in the EPBD group were younger (OR = -1.16, 95% CI: -1.49 to -0.84, P = 0.00), while in two groups, there were no significant difference (P > 0.05) in gender proportion, average size of stones, number of gallstones, previous cholecystectomy, the number of merged duodenal diverticulum, common bile duct diameter, the total follow-up time. Also, compared to EST, the overall stone clearance in the EPBD group was lower (OR = 0.64, 95% CI: 0.42 to 0.96, P = 0.03), pancreatitis incidence was higher (OR = 2.67, 95% CI: 1.61 to 4.43, P = 0.00), incidence of bleeding (OR = 0.12, 95% CI: 0.04 to 0.34, P = 0.00), acute cholecystitis (OR= 0.39, 95% CI: 0.18 to 0.84, P = 0.02), total long-term complication rate (OR = 0.53, 95% CI: 0.36 to 0.77, P = 0.01), stone recurrence rate more than a year were lower (OR= 0.48, 95% CI: 0.26 to 0.90, P = 0.02). While in two groups, there were no significant difference (P > 0.05) in the stone removal on 1 '' attempt, the total near-term complications and acute cholangitis.

CONCLUSIONSOn the basis of lower rates of bleeding, EPBD seems to be preferred strategy over EST for endoscopic remove of common bile duct stones in patients who have coagulopathy. Although stone recurrence rate more than a year of EPBD is lower, but the overall stone clearance rate is lower and the risk of pancreatitis is higher than that of EST.

Dilatation ; Gallstones ; surgery ; Humans ; Postoperative Complications ; epidemiology ; Randomized Controlled Trials as Topic ; Sphincterotomy, Endoscopic ; Treatment Outcome

OBJECTIVE: To determine the therapeutic effect and safety of transcatheter closure of ventricular septal defects (VSD) in 50 patients. METHODS: Fifty patients were diagnosed by transthoracic echocardiography. To perform the operation, transthoracic echocardiography and X ray were used continuously to monitor the procedure. Transthoracic echocardiography and ECG were performed at 1, 3, and 6 months after the operation to evaluate the therapeutic effect. RESULTS: The VSD diameter ranged from 1.8 to 13.4 (5.54 +/- 2. 75) mm. The successful rate of the operation was 96.0%, and the complication rate of the operation was 16.7%. A 3 month follow-up was completed in 20 patients, and the median left ventricle end-diastolic dimension significantly decreased from (40.20 +/- 8.80) mm to (32.90 +/- 8.36) mm (P < 0.001). CONCLUSION Transcatheter closure of ventricular septal defects is a good method with a high success rate of placement, fewer complications, and a good occlusion effect.
Adolescent ; Adult ; Balloon Occlusion ; adverse effects ; instrumentation ; methods ; Cardiac Catheterization ; methods ; Child ; Child, Preschool ; Echocardiography ; Female ; Heart Septal Defects, Ventricular ; diagnostic imaging ; therapy ; Humans ; Male ; Prostheses and Implants ; Treatment Outcome

OBJECTIVETo understand the epidemiological, clinical and etiological characteristics of an Echovirus type 6 meningitis outbreak in Jinzhai county, Liu'an city in Anhui, and to find out the proper way in controlling the aseptic meningitis outbreak.

METHODSA surveillance system for aseptic meningitis was established in Jinzhai to confirm the case definition. Stool or cerebrospinal fluid (CSF) specimens from some cases were collected for entero-viruses isolation and identification. Case-control study was conducted. The case group involved patients while the controls would include: patients' classmate with same gender and the age difference was not over one year. Neutralization antibody in serum specimens were collected and tested in cases and in healthy people.

RESULTS105 cases were distributed in 17 of the 30 towns in Jinzhai county while 41.0% of the cases were in Banzhuyuan town with an incidence rate of 203/10(5). Cases were clustered by school and classroom with age ranging from 3 to 15 years old and the highest as 10.9/10(5) in the 6 to 10 group. The incidence in males was 24.2/10(5) compared to 8.4/10(5) in females. The main clinic characteristics of cases were: fever, headache and vomiting. Echovirus type 6 from 25 of the 72 CSF samples (35%) was isolated. When comparing the cases group with control group, the OR of drinking home-made beverages was 4.1 (95% CI: 1.4-12.0), especially the beverages sacked by plastic bag: 3.3 (95% CI: 1.3-8.8). 6 out of 7 workers engaging in producing home-made beverages were detected to have carried Echovirus type 6 from their stool specimens. The Echovirus type 6 neutralization antibody positive rate in cases (73.5%) was significantly higher than that in 100 healthy people (46.0%) (X2 = 12. 526, P = 0.000).

CONCLUSIONThis episode of meningitis outbreak was caused by Echovirus type 6. The proportion of drinking home-made beverages, especially the beverages sacked by plastic bag in cases group was higher than in control group.

Adolescent ; Child ; Child, Preschool ; China ; epidemiology ; Echovirus 6, Human ; pathogenicity ; Echovirus Infections ; epidemiology ; etiology ; pathology ; virology ; Female ; Humans ; Male ; Meningitis ; epidemiology ; etiology ; pathology ; virology ; Prejudice

In early 2011, the serious outbreak of porcine pseudorabies virus (PRV) infection suddenly recurred in Henan and neighboring Provinces. To investigate the etiology of massive infection with PRV, 16 800 serum samples, 905 porcine epidemic diarrhea virus (PEDV) back-feeding tissues, and 56 PR gene deleted live vaccines were colleted from January 2011 to May 2013 to detect PRV field infection using a PRV gE antibody test kit. The gE and TK genes of 11 new epidemic PRV strains were sequenced by PCR, and their molecular characteristics were analyzed. Moreover, virus titer determination, protective test against PRV, and vaccine potency testing were performed. The results showed that the detection rate of PRV field infection-positive pig farms was 68.06%, and the overall positive rate of PRV field infection in serum was 38.47%; the positive rates in breeding sows, breeding boars, reserve pigs, and commercial pigs were 40.12%, 30.88%, 54.67%, and 26.52%, respectively. The new epidemic strains were in the same evolutionary branch and belonged to the virulent strain group. Compared with the classical PRV strain, the virulence of new epidemic strains changed a little. The length of gE gene was 1 787 bp, and the length of TK gene was 963 bp. The nucleotide homologies of gE and TK genes to Chinese reference strains were 98.2%-99.8% and 98.90%-99.6%, respectively, and the amino acid homologies were 97.1%-99.8% and 97.5%-99.4%, respectively. Commercial vaccine had a 100% protective effect against the new epidemic strains. The positive rate of PRV field infection was 0% in vaccine and 40.44% in back-feeding tissues. The results confirmed that PRV field infection rates were rising sharply among pigs in Henan and neighboring Provinces after 2011. The main virulence genes of new epidemic PRV strains did not change significantly over the years. PR gene deleted live vaccines had no PRV field infection and could completely resist the attack of new strains. The virus carriage of breeding boars and reserve pigs and the serious PRV field infection in PEDV back-feeding tissues were the main causative factors for massive infection with PRV and epidemic outbreak in Henan and neighboring Provinces from 2011 to 2013.
Amino Acid Sequence ; Animal Feed ; analysis ; virology ; Animals ; China ; epidemiology ; Epidemics ; Female ; Herpesvirus 1, Suid ; chemistry ; classification ; genetics ; isolation & purification ; Male ; Molecular Sequence Data ; Phylogeny ; Pseudorabies ; epidemiology ; virology ; Sequence Alignment ; Sequence Homology, Amino Acid ; Sus scrofa ; Swine ; Swine Diseases ; epidemiology ; virology ; Viral Proteins ; chemistry ; genetics

OBJECTIVETo elucidate the roles of JAK/STATs signal pathway on anti-proliferative effects induced by IFN-alpha in MHCC97.

METHODSAn IRF9 expression vector was transfected into MHCC97 with Dosper. The expression of IRF9, cycle regulating proteins and the forming of ISGF3 complex were detected using Western blot and EMSA, respectively. Cell proliferation and distribution were monitored using MTT and flow cytometry.

RESULTSHigh expression of IRF9 restored the anti-proliferative response of MHCC97 on IFN-alpha treatment and delayed the cell transition from S phase to G2 phase induced by IFN-alpha.

CONCLUSIONThe integrity and functions of JAK/STATs signal pathway played an important role in mediating the anti-proliferative effects of IFN-alpha in MHCC97.

Carcinoma, Hepatocellular ; genetics ; metabolism ; pathology ; Cell Line, Tumor ; Cell Proliferation ; Humans ; Interferon-Stimulated Gene Factor 3, gamma Subunit ; genetics ; Interferon-alpha ; metabolism ; pharmacology ; Janus Kinases ; genetics ; physiology ; Liver Neoplasms ; genetics ; metabolism ; pathology ; STAT Transcription Factors ; genetics ; physiology ; Signal Transduction ; Transfection

OBJECTIVETo evaluate the curative effect of percutaneous radiofrequency ablation (RFA) and hepatic resection (RES) for small hepatocarcinoma eligible for Milan criterion using meta analysis method.

METHODSRetrieved clinical trials comparing percutaneous radiofrequency ablation with RES for small hepatocarcinoma published from 1990 to 2010. A meta-analysis was conducted to estimate overall survival and disease free survival. A fixed random effect model or random effect model was established to collect the data.

RESULTSFour randomized controlled trials were included in this analysis. These studies included a total of 539 patients: 252 treated with percutaneous RFA and 287 treated with RES. The differences in overall survival were not statistically significant between RFA and RES (P > 0.05). In the patients treated with RES group, the 2-, 3- and 4-years disease free survival rates were significantly better than that in the patients treated with percutaneous RFA (P < 0.05). The postoperative morbidity rate was significant lower in patients treated with percutaneous RFA (OR: 0.14, 95%CI: 0.09 - 0.22, P = 0.000). But percutaneous RFA had a higher rate of tumor recurrence compared to RES (OR: 2.63, 95%CI: 1.67 - 4.15, P = 0.000).

CONCLUSIONSFor small hepatocarcinoma eligible for Milan criterion, percutaneous RFA had a similar overall survival to RES. Percutaneous RFA was the invasive lesser and had a lower postoperative morbidity rate than RES, but RES may had a better prevention of the tumor recurrence than percutaneous RFA. For those patients who don't want to be treated by RES, percutaneous RFA may be a recommendable choice.

Carcinoma, Hepatocellular ; surgery ; Catheter Ablation ; methods ; Hepatectomy ; Humans ; Liver Neoplasms ; surgery ; Randomized Controlled Trials as Topic ; Treatment Outcome