Difference between transcranial magnetic stimulation and transcranial direct current stimulation in theory, safety, detection of brain function and clinic treatment were reviewed in order to help reasonably select and effectively apply them in clinic.

Objective To estimate prenatal diagnoses strategy with abnormal results of non-invasive prenatal testing (NIPT) based on a case of mosaic for trisomy 22.Methods The pregnanct woman was recruited from Department of Prenatal Diagnosis Center of Xinhua Hospital.Ultrasound scans suggested fetal nuchal translucency was 3.5 mm.Peripheral venous blood was drawn from the pregnant woman for NIPT at 12+2 weeks gestation.For further prenatal diagnosis, amniocentesis was conducted at 16+2 weeks gestation, and karyotype analysis combination with chromosome microarray analysis (CMA) was executed to analysis amniocytes.Results NIPT results suggested that chromosome 21, 18 and 13 were normal and supplementary reports suggested that chromosome 22 were slightly above the normal range.Karyotype analyzed 35 cultured cells.Each of them revealed a normal female karyotype.However, CMA results suggested that chromosome 22 gain mosaic and its copy number was 2.26.The fetus was diagnosed as high possibility of mosaic for trisomy 22.Conclusions Combined with the NIPT results, which was slightly gain mosaic of chromosome 22, a prenatal diagnosis strategy were proposed.When NIPT results suggest chromosomal abnormities, karyotype analysis combination with CMA to diagnose were recommended.

ObjectiveTo investigate the clinical significance of co-infection with hepatitis B virus (HBV) and Epstein-Barr virus (EBV) in HBV-related liver diseases such as chronic hepatitis B (CHB), liver cirrhosis, and hepatocellular carcinoma (HCC). MethodsA retrospective analysis was performed for the clinical data of 487 patients with HBV infection who were diagnosed in Zhongnan Hospital of Wuhan University from May 2016 to August 2018, among whom 194 (39.8%) had co-infection with HBV and EBV. The patients were divided into groups according to the copy number of EBV DNA (＞400 IU/ml), Child-Pugh class (Child-Pugh class A, B, and C), and progression of liver disease (CHB, liver cirrhosis, and HCC), and related indices were compared between groups. The t-test was used for comparison of normally distributed continuous data between two groups; an analysis of variance was used for comparison between multiple groups, and the least significant difference t-test was used for further comparison between two groups. The Kruskal-Wallis H test was used for comparison of non-normally distributed continuous data between groups, and the Dunn-Bonferroni test was used for further comparison between two groups. The chi-square test was used for comparison of categorical data between groups. ResultsThe patients with CHB had a significantly higher copy number of HBV-DNA than those with liver cirrhosis or HCC (t=2.417 and 3.258, P=0.017 and 0.001), while the patients with HCC tended to have a higher copy number of EBV DNA than those with CHB or liver cirrhosis, but there was no significant difference between the three groups (F=1.161, P=0.315). After adjustment for liver function based on Child-Pugh class, the HCC patients with Child-Pugh class A liver function had a significantly higher copy number of EBV DNA than the CHB patients and the patients with liver cirrhosis (t=2.062 and 2.615, P=0.041 and 0.010)， the liver cirrhosis patients with Child-Pugh class C liver function had a significantly higher copy number of EBV DNA than the CHB patients (t=2.647,P=0.012). ALT/AST, globulin, and lymphocyte percentage were specific clinical indices for co-infection with HBV and EBV. ConclusionThere is an increase in EBV load in HCC patients, and both EBV and HBV are involved in the progression of liver diseases. Dynamic quantification of EBV DNA in patients with HBV infection has a certain significance in early intervention of the progression of liver diseases.

Objective To explore the role of resveratrol (RES) on cardiomyocyte hypertrophy of rat induced by isoproternol (ISO) and the effect of Res on the expression of GRP78 and GRP94 in endoplasmic reticulum stress of cardiomyocyte hypertrophy.Methods Hypertrophic model of cardiomyocytes was induced by ISO.Cardiomyocytes was divided into four group: control group, the model group, RES+ISO group and RES group.Hypertrophy status of cardiomyocytes was determined by Leica 2Q500 image analysis system measuring the cell surface area and the gene expression of ANP.The content of LDH and MDA was measured in different groups, and the protein expressions of GRP78 and GRP94 were detected by Western blot.Results Compared with control group, ISO induced cardiomyocytes hypertrophy, endoplasmic reticulum stress related factors GRP78 and GRP94 protein expression were increased, compared with ISO group, RES intervention effectively suppressed the cardiomyocytes hyper-trophy induced by ISO, reduced the protein expression of GRP78 and GRP94, at the same time, reduced lactate dehydrogenase (LDH) and malondialdehyde (MDA) release in cell medium.Conclusions Treatment of RES may protect cardiomyocytes hypertrophy, which is partially mediated by inhibiting the expression of ERS factors GRP78 and GRP94.

OBJECTIVE: To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS). METHODS: Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis. RESULTS: Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins. CONCLUSION The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.
Abnormalities, Multiple ; diagnosis ; genetics ; Cerebellum ; abnormalities ; Eye Abnormalities ; diagnosis ; genetics ; Humans ; Kidney Diseases, Cystic ; diagnosis ; genetics ; Membrane Proteins ; genetics ; Mutation ; Pedigree ; Retina ; abnormalities ; Whole Exome Sequencing

Objective:To explore the significance of empathy and executive function indexes in the diagnosis and classification of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD).Methods:According to DSM-Ⅴ diagnostic criteria, 33 children with ASD, 30 children with ADHD and 39 typical development (TD) children and adolescents were enrolled as the research subjects.The empathy and executive function characteristics were compared and analyzed in the subjects.Based on empathy and executive function indicators, the three groups of subjects were diagnosed and classified by machine learning method.Results:The total score of Griffith empathy measure parent ratings(GEM-PR)(ASD: (0.67±0.64), ADHD: (1.00±0.79), TD: (0.98±0.73)) and each factor score ( F=3.595-10.363, all P<0.05) and the total score of behavior rating inventory of executive function(BRIEF)(ASD: (62.79±7.45), ADHD: (59.47±8.77), TD: (49.08±7.91)) and each factor score of the three groups were different ( F=6.557-33.205, all P<0.01). Among them, the scores of empathy and executive function in ASD and ADHD groups were generally higher than those in TD children (all P<0.05). When combined with BRIEF scale and GEM scale, the classification accuracy of the three groups reached 62.75%. Conclusion:Both ASD and ADHD children have damages in empathy and executive function.Combining empathy and executive function indexes are more helpful for diagnosis and classification than single index.

Hepatocellular carcinoma (HCC) is an aggressive human cancer with increasing incidence worldwide. Multiple efforts have been made to explore pharmaceutical therapies to treat HCC, such as targeted tyrosine kinase inhibitors, immune based therapies and combination of chemotherapy. However, limitations exist in current strategies including chemoresistance for instance. Tumor initiation and progression is driven by reprogramming of metabolism, in particular during HCC development. Recently, metabolic associated fatty liver disease (MAFLD), a reappraisal of new nomenclature for non-alcoholic fatty liver disease (NAFLD), indicates growing appreciation of metabolism in the pathogenesis of liver disease, including HCC, thereby suggesting new strategies by targeting abnormal metabolism for HCC treatment. In this review, we introduce directions by highlighting the metabolic targets in glucose, fatty acid, amino acid and glutamine metabolism, which are suitable for HCC pharmaceutical intervention. We also summarize and discuss current pharmaceutical agents and studies targeting deregulated metabolism during HCC treatment. Furthermore, opportunities and challenges in the discovery and development of HCC therapy targeting metabolism are discussed.

OBJECTIVES: Steroidal anti-inflammatory drugs have certain side effects in the treatment of hypertrophic scar, and the scar recurrence is easy after withdrawal of steroid anti-inflammatory drugs. Finding reliable alternative drugs is an effective means to improve this defect. Aspirin, a traditional non-steroidal anti-inflammatory drug, is safe for topical use and has anti-inflammatory effects similar to those of steroidal anti-inflammatory drugs, which may have similar effects on the treatment of hypertrophic scar. This study aims to investigate the inhibitory effect of aspirin on the proliferation of hypertrophic scar in rabbit ears and the underlying mechanism. METHODS: The rabbit ear hypertrophic scar models were prepared. The rabbits were randomly divided into a normal skin group (group A), a blank control group (group B), a 0.9% NaCl group (group C), a 0.2% aspirin group (group D), a 0.5% aspirin group (group E), a 2% aspirin group (group F), and a triamcinolone acetonide group (group G). Macroscopic observation of hyperplasia was performed 8 weeks after local injection of the scar, followed by collecting the scar tissue samples for HE staining, Masson staining, and immunohistochemistry, respectively to assess the proliferation of fibroblasts and collagen fibers, and calculate the hypertrophic index, microvessel density, and immunohistochemical score. RESULTS: All rabbit ear hypertrophic scar models were successfully constructed. In groups B and C, the hypertrophic scar edge was irregular, with reddish protruding epidermis, significant contracture and hard touch. In group D, E, and F, with the increase of aspirin administration concentration, the scar became thinner and gradually flat, the proliferation of fibrocytes and collagen fibers was weakened, and the hypertrophic index was gradually decreased (P<0.05). Immunohistochemistry showed that the expression of β-catenin was decreased in the group D, E and F in turn, and the immunohistochemical score was gradually decreased (P<0.05). There was no significant difference in hypertrophic index, microvessel density, and immunohistochemical score (all P>0.05). CONCLUSIONS Local injection of aspirin can reduce the generation of hypertrophic scar in a dose-dependent manner within a certain concentration range; aspirin inhibits the growth of hypertrophic scar in rabbit ears by inhibiting Wnt/β-catenin signal pathway; 2% aspirin and 40 mg/mL triamcinolone acetonide have similar curative efficacy on hypertrophic scar.
Animals ; Anti-Inflammatory Agents/therapeutic use* ; Aspirin/therapeutic use* ; Cicatrix, Hypertrophic/pathology* ; Collagen ; Rabbits ; Signal Transduction ; Triamcinolone Acetonide/therapeutic use* ; beta Catenin/metabolism*