· AIM: To summarize the clinical features of Chinese primary congenital glaucoma and to investigate the discrepancies of the clinical features between the Chinese and Indian patients.congenital glaucoma patients were reviewed. The clinical features were summarized as several quantifiable clinical parameters and the severity of the disease was evaluated. Both the quantified clinical features and severity were statistically compared with those of the Indian patients, which were cited from the previous published articles.included in the study. In Chinese patients, sex ratio (male to female )was about 2:1, family history was presented in 3 patients (7.5%) and consanguinity was found in one patient (2.5%). The main symptoms and signs observed in Chinese patients spanned a wide spectrum of manifestations. The most frequent signs noted on the initial examination were enlarged eyeball (42.5%) and decreased visual acuity (35.0%). Compared with Indian patients, Chinese patients had a later onset, a delayed diagnosis, more severe corneal changes and more severe optic nerve damages (P＜0.01). The combined tabeculectomy and trabeculotomy operation was preferred by both Chinese and Indian doctors whereas a higher proportion of Indian patients received the combined operation (P＜0.01). The proportions of the severity grade were different between Chinese and Indian patients. Most Chinese patients were in the severe grade while most Indian patients were in the very severe grade (P＜0.01).patients were sporadic and non-consanguineous.Compared with Indian patients, Chinese patients had a relative later onset, a delayed diagnosis and treatment.More attempts are needed in Chinese PCG prevention and treatment.

Objective To study the clinical efficacy and safety of edaravone in the treatment of traumatic cerebral infarction.Methods A total of 72 patients with traumatic cerebral infarction were randomly divided into the control group (n =36) and the treatment group (n =36).The control group received conventional treatments including intracranial pressure control,nerve nutrition and microcirculation regulation.The patients in treatment group were given intravenous infusion of edaravone 20 mL + 0.9％ NaC1 200 mL on the basis of the conventional treatment,bid,14 d.The changes of hemorheologic parameters were measured and compared between the two groups respectively.The total effective rate were evaluated according to the Glasgow scores,and the safety of clinical medication was evaluated.Results The total effective rate of the treatment group was 91.67％ (33/36 cases) while that of the control group was 72.22％ (26/36 cases),with statistically significant difference between the two groups (P ＜ 0.05).Mter treatment,high shear whole blood viscosity in the treatment group and the control group were (4.73 ± 0.56),(5.36 ± 0.78) mPa · s respectively,while low shear whole blood viscosity were (8.15 ± 1.03),(9.54 ± 1.26) mPa · s,plasma viscosity were (1.41 ± 0.15),(1.76 ± 0.19) mPa · s,red blood cell pressure were (37.15 ± 3.21) ％,(43.17 ± 4.03)％,fibrin deposition were (3.58 ± 0.45),(4.67 ±0.54)g· L-1,and the differences of all the parameters above between the two groups were statistically significant (P ＜ 0.05).The incidence of adverse drug reactions in the treatment group and control group were 5.56％ (1/36 cases) and 2.78％ (2/36 cases) respectively,while no statistical significance was observed (P ＞ 0.05).Conclusion Edaravone is able to improve hemorheology indexes in patients with traumatic brain injury complicated with cerebral infarction.The treatment effect is better than the routine nervous medical treatment,and edaravone has a positive effect on the clinical treatment of traumatic brain injury complicated with cerebral infarction.

OBJECTIVETo identify the mutation of low density lipoprotein receptor(LDLR) gene in a large Chinese family with familial hypercholesterolemia(F H) and make a discussion on the pathogenesis of FH at the molecular level.

METHODSInvestigations were made on a patient with the clinical phenotype of homozygous FH and his parents for mutations of promoter and all 18 exons of LDLR gene. Screening was carried out using Touch down PCR and a g arose gel electrophoresis, combined with DNA sequence analysis. The results were compared with the normal sequences in GenBank and FH database (www.ucl.uk/fh) t o find the mutation. Then the mutation was identified in other members of the family. In addition, the authors screened the apolipoprotein B(100) (apoB(100)) gene f or known mutations (R3500Q) that cause familial defective apoB(100) (FDB) by PCR-RFLP.

RESULTSA novel homozygous IN III 5' GT --> AT mutation in the splice donor of LDLR intron 3 was detected in the homozygote propositus with FH. The mutation was also identified in four heterozygous carriers in his family. No mutations R3500Q of apoB(100)were observed.

CONCLUSIONA homozygous G --> A splice mutation in LDLR gene was first reported. The change of the splice donor in LDLR intron 3 may cause skipping of exon 3, which is responsible for FH. Perhaps it is a particular pathogenesis for Chinese people.

Adolescent ; Adult ; Alternative Splicing ; genetics ; Base Sequence ; Child ; China ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; Female ; Homozygote ; Humans ; Hyperlipoproteinemia Type II ; blood ; genetics ; pathology ; Lipids ; blood ; Male ; Middle Aged ; Mutation ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Receptors, LDL ; genetics

OBJECTIVETo study the pathological characteristics of salivary malignant myoepithelioma with characteristic multinodular architecture.

METHODSTo observe the histologic and cytologic characteristics of 19 cases of de novo salivary malignant myoepithelioma with multinodular growth pattern. Immunohistochemistry of calponin, SMA, S-100, GFAP, cytokeratin, PCNA was done on 11 cases and ultrastructure was observed on 3 cases.

RESULTS19 tumors presented characteristic multinodular growth pattern, mostly accompanied by central necrosis. Neoplastic nests invaded the surrounding normal tissue and tumor cells displayed a variety of pleomorphism. Epitheliod cell was the most predominant cell type. Tumor-related extracellular matrix formation was revealed among tumor cells. Immunohistochemical staining demonstrated that the tumor cells were positive for calponin, SMA, S-100, GFAP, AE1/AE3, CKH and PCNA. Myofilaments were found in neoplastic cell cytoplasm under the electron microscope.

CONCLUSIONHistologic and cytologic observation, immunostaining and ultrastructural study all supported the myoepithelial and malignant nature of the tumor.

Diagnosis, Differential ; Humans ; Myoepithelioma ; diagnosis ; pathology ; Parotid Neoplasms ; diagnosis ; pathology ; Salivary Gland Neoplasms ; diagnosis ; pathology

OBJECTIVETo observe the cellular expression of (R127W) HSPB1 and its influence on neurofilament light chain (NFL) self-assembly and co-localization with NFL.

METHODSEukaryotic expression vectors pEGFPN1-(wt) HSPB1 and pEGFPN1- (R127W) HSPB1 were constructed. Hela cells were transiently transfected with pEGFPN1-(wt) HSPB1 or pEGFPN1- (R127W) HSPB1 and observed under a confocal microscope. Hela cells were also transiently co-transfected with Pcl-NFL and pEGFPN1-(wt)HSPB1, or pCL-NFL and pEGFPN1-(R127W)HSPB1. The self-assembly of NFL was observed and the co-localization study of HSPB1/ (R127W)HSPB1 with NFL was carried out in these two cell models by immunofluorescence technique.

RESULTSThe aggregates formed by EGFP-(R127W)HSPB1 predominantly located around the nucleus, and EGFP-(wt)HSPB1 showed diffusion pattern in Hela cells. When co expressed with EGFP-(wt)HSPB1, NFL formed homogeneous structure in cytosol. When co-expressed with EGFP-(R127W)HSPB1, however, NFL had amorphous staining pattern predominantly consisting of NFL aggregates, and NFL co-localized with (R127W)HSPB1 in these aggregates.

CONCLUSIONThe R127W mutant of HSPB1 may have reduced capacity to serve as a chaperone to prevent aggregate formation, and fail to correctly organize the neurofilament network. Dysfunction of the axon cytoskeleton and axon transport may be the primary mechanism of R127W mutation of HSPB1 in the pathogenesis of Charcot-Marie-Tooth disease.

Base Sequence ; Charcot-Marie-Tooth Disease ; genetics ; metabolism ; Gene Expression Regulation ; Genetic Vectors ; genetics ; HSP27 Heat-Shock Proteins ; genetics ; metabolism ; HeLa Cells ; Humans ; Intracellular Space ; metabolism ; Mutant Proteins ; genetics ; metabolism ; Neurofilament Proteins ; metabolism ; Protein Binding ; genetics ; Protein Transport ; Transfection

Objective To investigate the improvement effect and mechanism of marmesin on cognitive impairment in Alzheimer's disease(AD)mice.Methods Fifty mice were randomly divided into five groups:blank group,model group,low-and high-dose marmesin groups and donepezil(positive drug)group,with 10 mice in each group.After 21 days of continuous administration,except for the blank group,the mice in other groups were given intraperitoneal injection of scopolamine to establish the AD model.Network pharmacology was used to construct the protein-protein interaction(PPI)network of common targets of marmesin in the treatment of AD,and gene ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analysis were performed to provide further research direction.The cognitive function of AD model mice was evaluated by Morris water maze,open field test and new object recognition test.Nissl staining was used to observe the damage of hippocampal neurons.The levels of acetylcholine(Ach),acetylcholine transferase(ChAT),acetylcholinesterase(AChE),reactive oxygen species(ROS),malondialdehyde(MDA)and catalase(CAT)in hippocampus of mice were detected by kit.The protein expression levels of interleukin 6(IL-6),interleukin 1β(IL-1 β),tumor necrosis factor α(TNF-α),nuclear factor E2-related factor 2(NRF2),silent information regulator homologous protein 3(SIRT3),Kelch-like ECH-associated protein 1(KEAP1),quinone oxidoreductase 1(NQO1)and heme oxygenase 1(HO-1)in hippocampus were detected by Western Blot.Results Compared with the model group,the latency of Morris water maze test was significantly shortened in the high-dose marmesin group,the time of entering the target area in the open field new object test and the movement distance in the central area of the open field were prolonged,the number of neurons in the hippocampal CA1 and CA3 regions was significantly increased,the levels of ChAT and Ach in the hippocampus were significantly increased,AChE level was significantly decreased,CAT level was significantly increased,ROS and MDA levels were significantly decreased,TNF-α expression level was decreased,SIRT3 and HO-1 expression levels were increased,and KE AP1 protein expression level was decreased,the differences being statistically significant(P＜0.05 or P＜0.01 or P＜0.001).Conclusion Marmesin can effectively improve the learning and memory impairment of AD mice,and its mechanism may be related to the activation of NRF2/SIRT3 signaling pathway,thereby alleviating oxidative stress level and neuroinflammation,and repairing cholinergic neuron function.

Objective To evaluate the influence of veneer application on failure behavior and reliability of lithium disilicate glass-ceramic (LDG) crowns of maxillary first molar,and thus to reveal the failure mechanism of bilayered LDG crowns.Methods Twenty-six LDG maxillary first molar crowns were fabricated in a dental laboratory using IPS e.max Press or IPS e.max Press/Ceram.The crowns were randomly assigned into two groups (with or without veneer application) with thirteen in each group.The crowns were cemented on composite resin dies.After storage in water for one week,the sliding-contact fatigue test was performed by sliding the steatite ceramic ball indenter (6 mm in diameter) from central fossa up to the lingual surface of disto-buccal cusp,cyclic loaded 1 200 000 times with a weight of 100 N at 2 Hz with a fatigue chewing simulator.Survived specimens were subjected to single-load-to-fracture testing using a steatite ceramic ball of 6 mm in diameter at a cross-head speed of 0.5 mm/min in a universal testing machine.Fracture load values were recorded and analyzed with t test.Weibull modulus was calculated to evaluate structure reliability.Fractographic analysis was carried out to determine fracture modes of the failed specimens by a stereomicroscope and a scanning electron microscope (SEM).Results Statistical analysis results indicated a significant difference of the fracture load values between monolithic group [(2071.23 ± 397.05) N] and bilayered group [(1483.41 ± 327.87) N] (P ＜ 0.001).Monolithic and bilayered groups present similar Weibull modulus (95％ confidence interval) as 6.15 (5.15 ～7.15) and 5.54 (4.01 ～7.08) respectively,with no significant difference (the confidence bounds overlapped with each other).Bulk fracture initiating from the middle of oblique ridge of the first maxilla molar was the primary failure mode of monolithic/bilayered LDG crowns.Crack propagation initiated from core-veneer interfacial defects was another major failure mode of bilayered all-ceramic crowns.Conclusions Veneer application has some influence on fatigue failure of LDG crowns,but shows no effect on structure reliability.Accumulated damage combined with tensile stress concentration on the surface of veneer layer and defects within core-veneer interface lead to initiating of cracks.The mechanical property of veneering materials should be increased,and procedure of veneer application should be standardized and improved in order to reduce the failure rate of LDG molar crowns.

OBJECTIVE: To rank the effectiveness of various moxibustion methods on the quality of life in tumor patients, and explore the best treatment plan of moxibustion for improving the quality of life in tumor patients from the perspective of evidence-based medicine. METHODS: The Chinese and English literature of randomized controlled trial (RCT) of the effect of moxibustion on the quality of life in tumor patients were searched in PubMed, EMbase, Cochrane Library, CNKI, SinoMed, Wanfang and VIP. The retrieval time was from the establishment of the databases to October 31, 2020. The R3.6.2 and Stata15.0 software were used for network Meta-analysis based on Bayesian model. RESULTS: A total of 30 Chinese RCTs were included, including 2 169 patients, involving 16 interventions. In terms of the effectiveness of improving quality of life, the top three treatments were special moxibustion plus other therapies 1 (either of tendon acupuncture, acupoint pressing, acupoint injection, etc.), wheat-grain moxibustion and mild moxibustion. The special moxibustion methods were the combination of fire-dragon moxibustion, thunder-fire moxibustion, fuyang fire moxibustion and moxa salt-bag moxibustion. The number of literature of these four moxibustion methods was small. Considering the clinical application of moxibustion, it was concluded that wheat-grain moxibustion ranked first. CONCLUSION The adjuvant treatment of wheat-grain moxibustion is more effective than other moxibustion methods on improving the quality of life in tumor patients, but the results needed to be further verified because the bias risk of RCT included in this study is high and the sample size is small.
Acupuncture Therapy ; Humans ; Moxibustion/methods* ; Neoplasms/therapy* ; Network Meta-Analysis ; Quality of Life ; Randomized Controlled Trials as Topic

With the ultra high performance liquid chromatography-quadruple-electrostatic field orbitrap high resolution mass spectrometry(UHPLC-Q Exactive Orbitrap-MS)-based metabonomics technology, this study aims to analyze the effect of Chaiqin Ningshen Granules(CNG) on endogenous metabolites in insomnia rats of liver depression syndrome and explore the sleep-improving mechanism of this prescription. Parachlorophenylalanine(PCPA, ip) and chronic stimulation were combined to induce insomnia of liver depression pattern in rats, and the effect of CNG on the macroscopic signs, hemorheology, and neurotransmitters in the hippocampus of insomnia rats of liver depression syndrome was observed. After the administration, rat hippocampus was collected for liquid chromatography-mass spectrometry(LC-MS) analysis of the metabolomics. Principal component analysis(PCA), partial least squares discriminant analysis(PLS-DA), and orthogonal partial least squares discriminant analysis(OPLS-DA) were employed for analyzing the metabolites in rat hippocampus and screening potential biomarkers. MetPA was used to yield the related metabolic pathways and metabolic networks. The results show that the drugs can significantly improve the mental state, liver depression, and blood stasis of rats, significantly increase the content of 5-hydroxytryptamine(5-HT) and gamma aminobutyric acid(GABA) in hippocampus(except low-dose CNG), and significantly reduce the content of glucose(Glu)(except low-dose CNG). Among them, estazolam and high-dose CNG had better effect than others. Metabolomics analysis yielded 27 potential biomarkers related to insomnia. MetPA analysis showed 4 metabolic pathways of estazolam in intervening insomnia and 3 metabolic pathways of high-dose CNG in intervening insomnia, involving purine metabolism, glycerophospholipid metabolism, histidine metabolism, and caffeine metabolism. CNG can alleviate insomnia by regulating endogenous differential metabolites and further related metabolic pathways. The result lays a basis for further elucidating the mechanism of CNG in improving sleep.
Animals ; Biomarkers ; Chromatography, High Pressure Liquid ; Drugs, Chinese Herbal/pharmacology* ; Estazolam ; Hippocampus/metabolism* ; Metabolomics/methods* ; Rats ; Sleep ; Sleep Initiation and Maintenance Disorders/drug therapy*

Objective To evaluate the effectiveness of a whole-process health education model among inpatients with ascites type of advanced schistosomiasis. Methods A “admission-hospitalization-discharge” whole-process health education model was created, 101 inpatients with ascites type of advanced schistosomiasis were given the whole-process health education. The scores of schistosomiasis control knowledge, attitudes towards schistosomiasis control and healthy behaviors, and awareness of schistosomiasis control knowledge, correct rate of attitudes towards schistosomiasis control and correct rate of healthy behaviors were compared among inpatients with ascites type of advanced schistosomiasis before and after implementation of the whole-process health education. Results The scores of schistosomiasis control knowledge, schistosomiasis control attitudes and healthy behaviors were all significantly higher among inpatients with ascites type of advanced schistosomiasis after implementation of the whole-process health education than before implementation (Z = −7.688, −3.576 and −4.328, all P values < 0.01). In addition, the awareness of schistosomiasis control knowledge increased from 54.3% to 82.7% (χ² = 188.886, P < 0.01), and the correct rate of attitudes towards schistosomiasis control increased from 88.4% to 98.0% (χ² = 22.001, P < 0.01), while the correct rate of healthy behaviors increased from 48.2% to 59.7% (χ² = 11.767, P < 0.01). Conclusions The whole-process health education model may remarkably improve the awareness of schistosomiasis control knowledge and promote the formation of positive attitudes towards schistosomiasis control and correct behaviors among inpatients with ascites type of advanced schistosomiasis, which is of great significance to facilitate patients’ cure.