Objective:To investigate the factors affecting phenotypes in the patients of methylmalonic acidemia combined with homocysteinemia cblC type with MMACHC c. 609G>A homologous variant. Methods:A retrospective study on the clinical manifestations, complications, treatment, and outcome in 164patients of cblC type with MMACHC c. 609G>A homologous variant was conducted.The patients were diagnosed by biochemical and genetic analysisfrom January 1998 to December 2020. Results:Among the 164 patients, 2 cases were prenatally diagnosed and began treatment after birth. They are 3 and 12 years old with normal physical and mental development. Twenty-one cases were diagnosed by newborn screening. Among them, 15 cases had with normal development. They were treated fromthe age of two weeks at the asymptomatic period. Six cases began treatment aged 1 to 3 months after onset. Their development was delayed. One hundred and forty-one cases were clinically diagnosed. Their onset age ranges from a few minutes after birth to 6 years old. 110 cases had early-onset (78.0%). 31 cases had late-onset (22.0%). Five of them died. 24 patients lost to follow-up. Of the 141 clinically diagnosed patients, 130 (92.2%) with psychomotor retardation, 69 (48.9%) with epilepsy, 39 (27.7%) with anemia, 30 (21.3%) had visual impairment, 27 (19.1%) had hydrocephalus, 26 (18.4%) had feeding difficulties, 7 (5.0%) with liver damage, and 5 (3.5%) with metabolic syndrome. The frequency of hydrocephalus and seizures was significantly higher in the early-onset group. The urinary methylmalonic acid increased significantly in the patients with epilepsy. During the long-term follow-up, the level of plasma total homocysteine in the seizure-uncontrolled group was significantly higher than that in the seizure-controlled group, the difference had a statistical significance ( P<0.05). Conclusion:Most of the patients with MMACHC c. 609G>A homozygous variant had early-onset disease, with a high mortality and disability rate. If not treated in time, it will lead to neurological damage, resulting in epilepsy, mental retardation, hydrocephalus, and multiple organ damage. Pre-symptomatic diagnosis and treatment are crucial to prevent irreversible neurological damage. Neonatal screening and prenatal diagnosis are important to improve the outcome of the patients.

Objective:To analyze the clinical features, genetic characteristics, treatment and follow-up results of patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria, and to discuss the optimal strategies for assessing and treating such patients.Methods:From January 1998 to December 2020, 76 patients with hydrocephalus due to methylmalonic acidemia combined with homocysteinuria in the Department of Pediatrics in 11 hospitals including Peking University First Hospital were diagnosed by biochemical, genetic analysis and brain imaging examination. The patients were divided into operation-group and non-operation-group according to whether they underwent ventriculoperitoneal shunt. The clinical features, laboratory examinations, genotype, and follow-up data were retrospectively analyzed. Data were compared between the two groups using rank sum test, and categorical data were compared using χ 2 test. Results:Among the 76 patients (51 male, 25 female), 5 were detected by newborn screening, while 71 were diagnosed after clinical onset, 68 cases (96%) had early-onset, 3 cases (4%) had late-onset. The most common clinical manifestations of 74 cases with complete data were psychomotor retardation in 74 cases (100%), visual impairment in 74 cases (100%), epilepsy in 44 cases (59%), anemia in 31 cases (42%), hypotonia or hypertonia in 21 cases (28%), feeding difficulties in 19 cases (26%) and disturbance of consciousness in 17 cases (23%). Genetic analysis was performed in 76 cases, all of whom had MMACHC gene variations, including 30 homozygous variations of MMACHC c.609G>A. The most common variations were c.609G>A (94, 62.7%), followed by c.658_660del (18, 12.0%), c.567dupT (9, 6.0%) and c.217C>T (8, 5.3%). Therapy including cobalamin intramuscular injection, L-carnitine and betaine were initiated immediately after diagnosis. A ventriculoperitoneal shunt operation was performed in 41 cases (operation group), and 31 patients improved after metabolic intervention (non-operation group). There was no significant difference in the age of onset, the age of diagnosis, the blood total homocysteine, methionine, and urinary methylmalonic acid concentration between the two groups (all P>0.05). The symptoms of psychomotor development, epilepsy, and visual impairments improved gradually after a long-term follow-up in the operation group. Conclusions:Hydrocephalus is a severe complication of methylmalonic acidemia combined with homocysteinuria. The most common clinical manifestations are psychomotor retardation, visual impairment, and epilepsy. It usually occurs in early-onset patients. Early diagnosis and etiological treatment are very important. Hydrocephalus may improve after metabolic intervention in some patients. For patients with severe ventricular dilatation, prompt surgical intervention can improve the prognosis.

OBJECTIVE:To promote quality control management of TCM decoction piece in secondary and tertiary TCM hospitals, integrated traditional Chinese and western medicine hospitals, and to guarantee the safety of drug use in patients. METHODS:According to 2016 TCM Decoction Piece Management Special Test Score of National Medical Institution made by quality control center of TCM in Shanghai,TCM decoction piece management of 22 secondary and tertiary TCM hospitals, integrated traditional Chinese and western medicine hospitals (14 and 8,respectively) in Shanghai were scored (the total score is 100),summarized and analyzed by on-site inspection from 7 modules,such as pharmaceutical management,acceptance and storage maintenance, dispensing, decocting or outside processing, prescription standardization and prescription review. The suggestions were put forward. RESULTS & CONCLUSIONS:Average score of 22 hospitals was 91.97, and hospitals with excellent(the secondary and tertiary hospitals are 11 and 5,respectively)and good(the secondary and tertiary hospitals are 2 and 3,respectively) score accounted for 95.45％. Those hospitals obtained good score in respect of pharmaceutical management (the total score is 12,scored 11.73). But in many hospitals,there are shortcomings in acceptance and storage maintenance,dispensing, outside processing,prescription standardization and prescription review management. It is suggested to control TCM decoction piece purchase and acceptance,strengthen TCM decoction piece maintenance and storage,enhance TCM decoction piece batch number management, effectively monitor TCM decoction piece outside processing, improve prescription standardization, implement TCM decoction piece prescription comment and standardize prescription name of TCM decoction piece so as to improve total quality of TCM decoction piece management.

Exploiting cells as vehicles combined with nanoparticles combined with therapy has attracted increasing attention in the world recently. Red blood cells, leukocytes and stem cells have been used for tumor immunotherapy, tissue regeneration and inflammatory disorders, and it is known that neutrophils can accumulate in brain lesions in many brain diseases including depression. -Acetyl Pro-Gly-Pro (PGP) peptide shows high specific binding affinity to neutrophils through the CXCR2 receptor. In this study, PGP was used to modify baicalein-loaded solid lipid nanoparticles (PGP-SLNs) to facilitate binding to neutrophils . Brain-targeted delivery to the basolateral amygdala (BLA) was demonstrated by enhanced concentration of baicalein in the BLA. An enhanced anti-depressant effect was observed and The mechanism involved inhibition of apoptosis and a decrease in lactate dehydrogenase release. Behavioral evaluation carried out with rats demonstrated that anti-depression outcomes were achieved. The results indicate that PGP-SLNs decrease immobility time, increase swimming time and climbing time and attenuate locomotion in olfactory-bulbectomized (OB) rats. In conclusion, PGP modification is a strategy for targeting the brain with a cell-nanoparticle delivery system for depression therapy.

Objective To explore the use of Diagnosis Related Groups(DRGs)evaluation index in performance management system of hospitals.Methods The performance evaluation system was built based on medical business volume index,efficiency indicators,cost control indexes,drug control indexes, medical quality and medical safety indexes,by means of extracting the home page of hospital discharge records from 2009 to 2013 and grouping automatically with the“BJ-DRGs”group-maker.Results The operation evaluation indexes of the hospital have seen great progress since advent of the DRGs evaluation indexes.Conclusion Introduction of DRGs has scored great success in the performance appraisal system of the hospital.

OBJECTIVETo investigate the effects of trichloroethylene (TCE) toxicity on the normal human liver cells (L02 cells) and hepatocytes with CYP2E1 gene overexpression which was constructed through molecular cloning technology in our laboratory, then to explore the roles of CYP2E1 gene in TCE toxicity.

METHODSL02 cells and hepatocytes with CYP2E1 overexpression were treated with various doses of TCE (0,0.25, 0.5, 1.0, 2.0, 4.0 mmol/L) for 12h, the expression of apoptosis genes (Bcl-2, Caspase-3, Caspase-8, Caspase-9) and oncogenes (c-fos, c-myc, k-ras, p53) were determined by real-time fluorescent PCR.

RESULTSBcl-2 mRNA expression levels increased significantly in normal liver cells and CYP2E1-overexpressing cells after TCE treatment, Bcl-2 levels were 20%∼50%higher in CYP2E1-overexpressing cells than in L02 liver cells at doses of 0.25∼2.0 mmol/L TCE. Caspase-3, Caspase-8 and caspase-9 mRNA expression increased by 30%∼600% in CYP2E1-overexpressing cells at doses of 0.5∼4.0 mmol/L TCE when compared with L02 cells (P < 0.01). Additionally, c-fos, k-ras and c-myc mRNA expression levels were 25%∼120% higher in CYP2E1-overexpressing cells than in L02 cells (P < 0.01), p53 mRNA expression levels were lower 10%∼50% in CYP2E1-overexpressing cells than in L02 cells (P < 0.05 or P < 0.01).

CONCLUSIONSThere were significant differences for apoptosis gene and oncogene expression levels between normal liver cells and CYP2E1-overexpressing cells after they were treated with TCE, these findings indicated that CYP2E1 might play an important role in TCE metabolism in vivo.

Apoptosis Regulatory Proteins ; Caspase 3 ; Caspase 8 ; Caspase 9 ; Cytochrome P-450 CYP2E1 ; genetics ; Gene Expression ; Hepatocytes ; drug effects ; Humans ; Liver ; Proto-Oncogenes ; genetics ; RNA, Messenger ; Trichloroethylene ; toxicity

Objective To analyse the clinico-pathologic characteristics,diagnosis,therapy and prognostic of small cell neuroendocrine carcinoma of the cervix(SCNCC).Methods The clinic-pathological features of 12 patients with SCNCC treated in Tumor Hospital of Guangxi Medical University,admitted during March 2006 to July 2010,were analyzed retrospectively.Results Of 12 patients,the mean age was 38.7 years(rang 28-57 years),6 had stages Ⅰ b1-Ⅱa,6 had stagesⅡb-Ⅳ.Among 8 patients(Ⅰ b1-Ⅲb)underwent surgery,4 of them received neoadjuvant chemotherapy,8 of them received adjuvant chemotherapy and(or)radiotherapy.All had greater than one-half stromal invasion,4 patients had positive pelvic lymph nodes metastases.The positive ratio of the chromogranin(CgA),synaptophysin,neuronspecific enolase(NSE),cytokeratins(CK),CD56 tested by immunohistochemical staining were 8/12,9/10,4/4,4/4,4/4,respectively.Median follow-up period was 3 months(1-22 months).Among 8 patients underwent surgery,2 patients developed lung metastases,1 patient developed liver and lung metastases,1 patient developed liver metastases concurrently with bone metastases,disease-free survival (DFS)were 3 months(Ⅰ b2 with positive lymph nodes),4.6 months(Ⅱ a),7 months(Ⅰ b1),17 months (Ⅰ b2);2 patient died(8.5 and 11.3 months,respectively)after surgery;4 patients are alive and show no evidence of disease.Among 4 patients untreated,1 patients received concurrent chemoradiation and are alive for 10.1 months.Two patient untreated(Ⅲb,Ⅳ)died after 0.6 and 1.3 months final diagnosis,respectively.One patient Was lost follow-up.Conclusions SCNCC is a highly malignant tumor with rare morbility,propensity for distant spread and dismal prognosis.Final diagnosis of SCNCC depends on pathomorphology and immunohistochemical analysis.Combined therapeutic modalities may in favor of survival in some patients.

BACKGROUND: At present, there are investigations on the expression of cytokines and adhesion molecular in ischemia-reperfusion injury at abroad,but they do not involve in the relative studies on endogenous cytokines and adhesion molecular on microvascular endothelial surface following injury.The expression of endogenous interleukin-1(IL-1) is limited only at mRNA level.OBJECTIVE: To prove into the mechanism of the expression of intercellular adhesion molecular 1 and its regulation factor IL-1 in spinal ischemia-reperfusion injury.DESIGN: A randomized grouping design, animal experiment.SETTING: Department of Sports Medicine, College of Physical Education Affiliated to Jilin UniversityMATERIALS: This experiment was carried out at the Central Laboratory,China-Japan Union Hospital, Jilin University between March 2003 and January 2004. Totally 77 healthy male Wistar rats were randomly divided into normal control group (n=7), simple ischemia group (n=14) and ischemia-reperfusion group (n=56). Among the rats in the simple-ischemia group, 7 rats suffered from blood flow block for 30 minutes and 7 rats for 60 minutes; Rats in the ischemia-reperfusion group were assigned into 8 subgroups according to 8 time phases, respectively at reperfusion for 30,60 minutes, 2, 4, 6,9, 12 and 24 hours following spinal ischemia, with 7 rats at each time phase.METHODS: Spinal ischemia-reperfusion injury animal models were created with Zivin method. The expressions of vascular endothelial intercellular adhesion molecule-1 (ICAM-1) mRNA and IL-1β mRNA following spinal ischemia-reperfusion injury were detected with reverse transcriptionpolymerase chain reaction, immunohistochemistry and immunofluorescent confocal laser scanning microscope technique.MAIN OUTCOME MEASURES: The expression of IL-1β mRNA, activity of IL-1 polypeptide, expression of ICAM-1 mRNA and protein and activity of myeloperoxidase (MPO).RFSULTS: Totally 77 animals were enrolled and all of them entered the stage of result analysis. ① The expression of IL-1β mRNA (A value)was significantly higher in the ischemia-reperfusion group than in the simple ischemia group and normal control group, with significant difference (respectively 1.07±0.33,0.60±0.22,0.57±0.12,t=3.751 7,11.852 6,P ＜ 0.01).② Activity of IL-1 polypeptide (A value )was significantly higher in the ischemia-reperfusion group than in the simple ischemia group and normal control group, with significant difference [respectively (33.7±3.2),(23.8±4.5), (23.1±2.1),t=2.798 8,9.962 7,P ＜ 0.01]. ③ ICAM-1 mRNA(A value)was significantly higher in ischemia-reperfusion group than in simple ischemia group and normal control group, with significant difference[respectively 0.94±0.12,0.52±0.11,0.51±0. 10,t=0.327 0,6.127 4, P＜0.01].④The expression of ICAM-1 protein was significantly higher at ischemiareperfusion for 4,6 and 12 hours than in simple ischemia group and normal control group, with significant difference [Respectively (316.90±26.00),(361.40±18.00),(406.00±23.00),(164.21±2.00),(180.00±32.00) μg/L,t=1.410 3,9.119 3 ,P ＜ 0.01]. ⑤ The activity of MPO was significantly higher at ischemia-reperfusion for 12 hours than in simple ischemia group and normal control group, with significant difference [respectively (15.00±2.00),(7.50±1.67),(6.67±1.00) nkat/g, t=3.012 2,P ＜ 0.01].CONCLUSION: Following reperfusion injury, inflammatory reaction in spinal cord is important molecular basis for causing blood spinal barrier impairment, and plays an important role in the process of secondary spinal cord injury.

Objective Through the research of the disposal of clinic laboratory result information,the paper explore the methods of building up laboratory's online management system and network information system.Methods This project began with the analysis of the need of laboratory and applies computer to simulate the manual disposal process.The system framework was separated into many sub parts according to its function.VB,etc were used to program.Results The project has been gained successfully in the online managemert of two analyzers and the management of data network consisting of three laboratories.Conclusion The project has established a practical and reliable in-formation management system which matches the work mode in clinical laboratory and has novelty functions.

ObjectiveTo observe effects of rehabilitation training on behavior and sensory evoked potential of rats with acute cerebral infarction.Methods30 male Wistar rats were randomly divided into sham operation groups (group A), model group (group B), and rehabilitation group (group C). Animal model was made by blocking the middle cerebral artery (MCA). For each group, the Bederson Neural Function was scored and balancing wood, rotating bar, and net screen were tested at the 24 hours, 3rd day and 7th day after operation respectively. The sensory evoked potential (SEP) latency of each group was also tested right after operation and on the 7th day after operation.ResultsComparing with group A, Bederson Neural Function scores of groups B and C indicated significant differences at each time (P<0.01). The ability of grasping, walking and coordinating of all groups handicapped 24 hours after operation, however, with time continuing, every function of group A restored and that of group B or C improved partly, but showed significant difference compared with group A (P<0.01). On the 3rd day after operation, balancing wood test of group C was better than that of group B (P<0.05), on the 7th day after operation, except Bederson Neural Function scores, there were significant difference between groups C and B (P<0.01 or P<0.05). Right after operation, compared with group A, the SEP latency of group B and C showed significant difference (P<0.01), on the 7th day after operation, the SEP latency of group C improved significantly compared with itself right after operation (P<0.01).ConclusionThe rehabilitation training can improve the MCAO rats' ability of equilibrating,grasping and walking and adjust the abnormal latency of SEP after MCAO, and prevent the nerve cells from damage caused by ischemic trauma.