Objective:To explore the abnormalities of efficiency in resting state functional brain network in patients with paranoid schizophrenia and the correlations between efficiencies and clinical symptoms.Methods:A total of 73 patients with schizophrenia (SZ group) met with the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-Ⅳ) criteria for schizophrenia and 70 healthy controls (HC group) were included .All subjects were checked by using functional magnetic resonance imaging (fMRI), and positive and negative syndrome scale(PANSS) were used to assess the symptoms.Abnormalities of global and local efficiency of brain regions in brain functional network were analyzed by graph theory.Pearson correlation was used to analyze the correlation between the abnormal global efficiency and local efficiency of brain regions of SZ group and PANSS.SPSS 20.0 software was used for dependent-sample t-test, ANOVA test and Pearson correlation analysis. Results:Compared with the HC group, SZ group showed increased global efficiency in bilateral thalamus(left: 0.26±0.06, 0.28±0.04, t=2.03, P=0.044.right: 0.26±0.06, 0.28±0.05, t=2.08, P=0.040), right orbital part of middle frontal gyrus(0.21±0.04, 0.23±0.05, t=2.25, P=0.026), cerebellar lobule Ⅸ(0.19±0.06, 0.21±0.05, t=2.56, P=0.011) and vermis Ⅲ(0.15±0.08, 0.19±0.07, t=3.27, P=0.001), while decreased global efficiency in bilateral parahippocampal gyrus(left: 0.25±0.05, 0.22±0.05, t=-3.34, P=0.001.right: 0.27±0.04, 0.23±0.05, t=-4.96, P=0.000), superior occipital gyrus(left: 0.27±0.03, 0.26±0.03, t=-2.70, P=0.008.right: 0.27±0.02, 0.26±0.03, t=-2.73, P=0.007), superior parietal gyrus(left: 0.27±0.03, 0.26±0.05, t=-2.63, P=0.010.right: 0.27±0.03, 0.25±0.05, t=-2.76, P=0.007), paracentral lobule(left: 0.28±0.03, 0.26±0.07, t=-2.47, P=0.015.right: 0.28±0.04, 0.25±0.07, t=-3.06, P=0.003), left precental gyrus(0.28±0.04, 0.27±0.04, t=-1.98, P=0.049), left cuneus(0.26±0.04, 0.25±0.04, t=-2.08, P=0.039), left lingual gyrus(0.29±0.03, 0.28±0.03, t=-2.28, P=0.024), left middle occipital gyrus(0.29±0.03, 0.28±0.03; t=-2.74, P=0.007), left middle temporal gyrus(0.28±0.03, 0.26±0.03, t=-2.73, P=0.007), temporal pole in left middle temporal gyrus(0.20±0.06, 0.18±0.06, t=-2.59, P=0.011) and right hippocampus(0.27±0.04, 0.26±0.06, t=-2.05, P=0.042).Compared with the HC group, SZ group showed increased local efficiency in bilateral caudate nucleus(left: 0.33±0.06, 0.35±0.05, t=2.54, P=0.012.right: 0.33±0.07, 0.35±0.04, t=2.77, P=0.007) and left superior occipital gyrus(0.39±0.03, 0.40±0.02, t=2.17, P=0.031), while decreased local efficiency in bilateral parahippocampal gyrus(left: 0.35±0.04, 0.32±0.07, t=-3.16, P=0.002.right: 0.34±0.04, 0.32±0.07, t=-2.91, P=0.004), left supplementary motor area(0.36±0.02, 0.35±0.05, t=-2.01, P=0.047), left inferior parietal but supramarginal and angular gyrus(0.35±0.03, 0.34±0.05, t=-2.65, P=0.009), left cerebellar crus Ⅱ(0.37±0.03, 0.36±0.04, t=-2.01, P=0.046), lobule ⅦB(0.37±0.03, 0.35±0.07, t=-1.98, P=0.049), right posterior cingulate gyrus(0.36±0.04, 0.34±0.07, t=-2.07, P=0.041), right superior parietal gyrus(0.37±0.03, 0.36±0.05, t=-2.19, P=0.031), right precuneus(0.36±0.02, 0.35±0.04, t=-2.36, P=0.020), right paracentral lobule(0.37±0.02, 0.36±0.06, t=-2.07, P=0.041) and right temporal pole in middle temporal gyrus(0.33±0.08, 0.30±0.09, t=-2.09, P=0.038).The global efficiency of bilateral paracentral lobule and left temporal pole in middle temporal gyrus in SZ group were negatively correlated with the negative scale scores( r=-0.25, -0.25, -0.26, all P<0.05).The global efficiency of right hippocampus in SZ group was positively correlated with total scores of PANSS( r=0.23, P=0.049).The global efficiency of left middle temporal gyrus in SZ group was negatively correlated with total scores of PANSS( r=-0.23, P=0.049).The local efficiency of right paracentral lobule in SZ group was negatively correlated with the positive scale scores( r=-0.24, P=0.038). Conclusion:The brain networks of patients with first-episode paranoid schizophrenia may have regional dysfunction in the transmission efficiency and fault-tolerant ability of resting state brain functional network, and the abnormalities of efficiency may be associated with the severity of psychiatric symptoms in several brain regions.

Graft-versus-host disease (GVHD) is a prevalent and potential complication of hematopoietic stem cell transplantation. An animal model, xenogeneic GVHD (X-GVHD), that mimics accurately the clinical presentation of GVHD would provide a tool for investigating the mechanism involved in disease pathogenesis. Murine models indicated that inhibiting IL-21 signaling was a good therapy to reduce GVHD by impairing T cell functions. We sought to investigate the effect of exogenous human IL-21 on the process of X-GVHD. In this study, human IL-21 was expressed by hydrodynamic gene delivery in BALB/c-Rag2⁻/⁻ IL-2RΓc⁻/⁻ (BRG) immunodeficient mice which were intravenously transplanted human peripheral blood mononuclear cells (hPBMCs). We found that human IL-21 exacerbated X-GVHD and resulted in rapid fatality. As early as 6 days after hPBMCs transplanted to BRG mice, a marked expansion of human CD19⁺ B cells, but not T cells, was observed in spleen of IL-21-treated mice. Compared with control group, IL-21 induced robust immunoglobulin secretion, which was accompanied by increased accumulation of CD19⁺ CD38(high) plasma cells in spleen. In addition, we demonstrated that B-cell depletion was able to ameliorate X-GVHD. These results are the first to find in vivo expansion and differentiation of human B cells in response to IL-21, and reveal a correlation between the expansion of B cells and the exacerbation of xenogeneic GVHD. Our findings show evidence of the involvement of B cells in X-GVHD and may have implications in the treatment of the disease.
Animals ; B-Lymphocytes ; immunology ; metabolism ; pathology ; Cell Differentiation ; Cell Proliferation ; DNA-Binding Proteins ; deficiency ; Female ; Graft vs Host Disease ; blood ; genetics ; immunology ; metabolism ; Heterografts ; immunology ; Humans ; Immunoglobulin G ; metabolism ; Immunoglobulin M ; metabolism ; Interleukins ; genetics ; immunology ; Male ; Mice ; Mice, Inbred BALB C ; Plasmids ; genetics

OBJECTIVETo explore the genetic cause for a Uyghur Chinese child with collodion skin.

METHODSG-banded chromosomal karyotyping was carried out for the child and his parents. High-throughput sequencing for 25 genes related to ichthyosis and ichthyosiform dermatosis was also performed for the child.

RESULTSNo karyotypic abnormality was found in the child and his parents. High-throughput sequencing has detected in the patient a previously described pathogenic mutation c.919C>T (p.Arg307Trp) and a novel c.856C>T (p.Arg286Trp) mutation in the TGM1 gene. By Sanger sequencing, the child was verified to have carried both mutations. His father was found to be a heterozygous carrier of the c.856C>T (p.Arg286Trp) mutation, while neither mutation was found in the mother.

CONCLUSIONCongenital ichthyosis associated with the TGM1 gene may show an autosomal recessive inheritance. The collodion condition of the child is probably due to the compound heterozygous mutations of the TGM1 gene.

Child ; Chromosome Banding ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Ichthyosis, Lamellar ; genetics ; Infant ; Karyotyping ; Mutation ; Transglutaminases ; genetics

The current outbreak of coronavirus disease 2019 (COVID-19) in Wuhan,China,has posed significant threats to international health.By Feb.20,2020,74 576 cases have been confirmed and over 2 118 deaths have reported in the Chinese mainland.Chinese administrations have carried out immediate and prompt measures to stop the spread of the virus.Wuhan city has been shut down since Jan.23,and more than 30 thousand medical workers have been recruited to Hubei province.Two temporary hospitals were constructed to treat severe pneumonia patients,and 15 mobile cabin hospitals were built to treat mild pneumonia cases.Significant improvement regarding the pathogenesis,epidemiology,and diagnosis and therapy for the COVID-19 has been achieved to stop the spread of the epidemics.

To retrospectively analyze the efficacy of intravenous deep sedation for uncooperative pe-diatric patients undergoing oral treatment in outpatient clinic.The uncooperative pediatric patients,aged 2-10 yr,with an expected treatment time＜2 h,who underwent oral treatment in outpatient clinic from No-vember 2015 to October 2018,were selected.Dexmedetomidine was delivered via nasal spray,midazolam was taken orally or delivered via nasal spray,and sevoflurane was inhaled for sedation before treatment.Propofol was administered by target-controlled infusion during treatment to make patients achieve deep seda-tion.A total of 251 patients were enrolled and successfully completed oral therapy.Sedation before treat-ment: 154 cases(61.4％)received dexmedetomidine via nasal spray delivery,14 cases(5.6％)received oral midazolam,3 cases(1.2％)received midazolam via nasal spray delivery,and 80 cases(31.9％)in-haled sevoflurane,and ideal sedation(Ramsay sedation score≥4)was achieved in each pediatric patients.Temporary interruption of oral treatment due to physical activity occurred in 39 cases(15.5％),coughing occurred in 39 cases(15.5％),transient hypoxemia(time＜ 30 s)was found in 32 cases(12.9％),and these conditions returned to normal within 30 s through pausing the operation,deepening anesthesia,oral suction,lower jaw thrust or inhaling oxygen,etc.Only 1 case developed emergence agitation(Riker seda-tion-agitation scale score 5)during stay in the recovery room.No patients developed complications such as sore throat,vomiting,aspiration or obstruction of the upper respiratory tract.Intravenous deep sedation technique can be used for oral treatment in outpatient clinic in uncooperative pediatric outpatients and raise comfort of medical treatment for pediatric patients.

Objective:To investigate the clinical effects of anterior cage inserting for old thoracolumbar fractures with kyphosis through facet joint approach.Methods:A retrospective analysis was conducted on 32 patients with old thoracolumbar fractures complicated with kyphosis admitted from January 2018 to December 2019, including 14 males and 18 females. The average age was 47.3±13.1 years (range, 26-70 years). Thoracolumbar injury classification (TLICS) scores of patients with initial injury were 3-5 points, with an average of 4.0 points. After 6.3±2.9 months (range, 3-16 months) conservative treatment, intractable thorax and lumbar or back pain still existed. Anterior cage inserting via articular protrusion was performed in 15 cases and posterior screw placement and bone grafting fusion of injured vertebrae was performed in 17 cases. Preoperative sagittal Cobb angle was 27.0°±3.9° and 26.8°±4.6° in the anterior cage inserting group and fixation on fractured vertebrae group ( t=0.07, P=0.946), respectively. Sagittal vertical axis (SVA) was 4.2±1.8 cm and 4.1±2.1 cm ( t=0.14, P=0.887), respectively. The number of patients with ASIA impairment scale (AIS) of the anterior cage inserting group before surgery was 1 in grade C, 4 in grade D and 10 in grade E. However, the number of that in fixation on fractured vertebrae group was 2 in grade C, 2 in grade D and 13 in grade E. There was no significant difference between the two groups (χ 2=1.34, P=0.520). Results:All 32 patients were followed up for 12.2±3.1 months in the anterior cage inserting group and 12.0±3.3 months in fixation on fractured vertebrae group. The operative duration of the anterior cage inserting group and fixation on fractured vertebrae was 128±24.5 min and 123±40.6 min ( t=0.42, P=0.681). The intraoperative blood loss was 485±12.6 ml and 478±16.3 ml ( t=0.13, P=0.894), respectively. At the last follow-up, the improvement rate of VAS score of the anterior cage inserting group was higher than that of fixation on fractured vertebrae group (90%±10% vs. 75%±20%, t=3.17, P=0.004). The height of anterior margin of injured vertebra in the two groups was increased by 1.02±0.10 cm and 0.29±0.14 cm, the change rate of anterior cage inserting group was higher than that of fixation on fractured vertebrae group (67.1%±31.5% vs. 19.0%±14.9%, t=16.29, P<0.001). The sagittal Cobb angle of the anterior cage inserting group was significantly lower than that of fixation on fractured vertebrae group (7.4°±1.5° vs. 11.6°±2.5°, t=-5.85, P<0.001). The SVA of anterior cage inserting group was lower than that of fixation on fractured vertebrae group (1.1±0.6 cm vs. 1.6±0.6 cm, t=2.35, P=0.025). There were 15 patients in AIS grade E in the anterior cage inserting group, while 1 patient in grade D and 16 patients in grade E in fixation on fractured vertebrae group without significant difference between the two groups (χ 2=0.83, P=0.706). Conclusion:The treatment of old thoracolumbar fractures with kyphosis through facet joint approach and anterior fixation could achieve satisfied effects and could relieve pain symptoms of thoracolumbar and back, compared with posterior fusion for injured vertebra with nail and bone grafting.

OBJECTIVETo investigate the promoter methylation of p16, FHIT and RASSF1A gene and telomere damage in the workers exposed to coal tar pitch, and to explore the effective biomarker of occupational exposure to coal tar pitch.

METHODS180 cases of workers exposed to coal tar pitch in a certain carbon plant named as exposure group, and 145 healthy cases with a medical examination in the first affiliated hospital of Zhengzhou University were selected as control group. Relative telomere length in peripheral blood DNA was detected using real-time quantitative PCR, and the promoter methylation rate of p16, RASSF1A and FHIT gene in peripheral blood DNA were determined by real-time quantitative methylation specific PCR. The relative telomere length and gene promoter methylation in two groups were compared, and influencing factors were analyzed.

RESULTSRelative telomere length in exposed group was lower than that in the control group, and the difference was statistically significant (Z = -5.395, P < 0.001). There was no significant difference in the promoter methylation rate of p16, FHIT and RASSF1A gene between the two groups (P > 0.05). Stratification analysis by gender, age, and smoking, we found that when the age was less than or equal to 40, the promoter methylation rate of p16 in exposed group was more than that in control group, and the difference was statistically significant (Z = -1.914, P = 0.011).

CONCLUSIONOccupational exposure to coal tar pitch may induce leukocyte DNA telomere length of human peripheral blood shortened, and may not change the promoter methylation rates of p16, FHIT and RASSF1A gene.

Acid Anhydride Hydrolases ; genetics ; Coal Tar ; adverse effects ; Cyclin-Dependent Kinase Inhibitor p16 ; genetics ; DNA Methylation ; Humans ; Leukocytes ; drug effects ; Neoplasm Proteins ; genetics ; Occupational Exposure ; adverse effects ; Promoter Regions, Genetic ; Telomere ; drug effects ; ultrastructure ; Tumor Suppressor Proteins ; genetics

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a Chinese pedigree suspected for branchiootic syndrome (BOS). METHODS: The proband was subjected to target-capture high-throughput sequencing to detect potential variant of deafness-associated genes. Candidate variants were verified by Sanger sequencing of the family members. RESULTS: The proband was found to harbor a c.1627C>T (p.Gln543Ter) nonsense variant of the EYA1 gene. Sanger sequencing confirmed that all of the 4 patients with the BOS phenotype from the pedigree have harbored the same heterozygous variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS+PP3+PP4). CONCLUSION The c.1627C>T (p.Gln543Ter) variant of the EYA1 gene probably underlay the BOS phenotype in this pedigree. Above finding has provided a basis for its clinical diagnosis.
Branchio-Oto-Renal Syndrome ; China ; Humans ; Intracellular Signaling Peptides and Proteins/genetics* ; Mutation ; Nuclear Proteins/genetics* ; Pedigree ; Protein Tyrosine Phosphatases/genetics*

The self-healing microcapsule material is one of the smart materials that can self-identify and self-heal microcracks. Adding microcapsules to dental resin composites can resist generation of microcracks and prolong service life of resin restorations. In this literature, the overview of self-healing microcapsule materials, the combined application of self-healing microcapsule materials and other modified materials, the silanization treatment of dental self-healing microcapsules, the dynamic mechanics, fatigue and aging studies on self-healing dental resins were comprehensively presented and reviewed. In addition, prospects of dental self-healing microcapsule materials were also discussed.

Objective To investigate the clinical phenotype,sperm characteristics,genetic etiology and the outcomes of assisted repro-ductive technology of 2 minority patients(P1 Hui and P2 Uyghur)with globozoospermia.Methods The clinical data and various pa-rameters of semen examination in the 2 minority patients with globozoospermia were analyzed.The ultrastructure of their sperms was ob-served,and the genetic etiology of the patients was analyzed by whole exome sequencing(WES)and qPCR.Intracytoplasmic sperm in-jection(ICSI)combined with artificial oocyte activation(AOA)were applied for assisted reproduction thyrapy.The outcomes of assis-ted reproduction in the two couples were observed.Results Homozygous 109681 bp deletion in DPY19L2 gene was found in both the patients.The homozygous deletion of DPY19L2 gene in P2 patient came from his inbred parents.Low sperm motility and high sperm DNA fragmentation rate were observed in the P1 patient,the and the rate of round-headed sperm was 100％in morphology.The ab-sence of sperm acrosome and ultrastructural defects of plasma membrane,mitochondria and microtubules were found under the electron microscope.In the P2 patient,sperm motility and sperm DNA fragmentation rate patient were normal,and the sperm morphology was 100％round-headed sperm.Under the electron microscope,the main defects of sperm were small and round head with acrosomal ab-sence,structural damage,but the ultrastructural defects of organelles were rare,such as plasma membrane,mitochondria and microtu-bules.Both couples of the two patients received ICSI+AOA for assisted pregnancy,and the ICSI fertilization rate was 62.5％for P1 pa-tient and 75％for P2 patient.Both the patients successfully obtained clinical pregnancy.Conclusion The abnormal DPY19L2 gene is the main genetic cause in the globozoospermia patients with different ethnic backgrounds.Both structural damage and ultrastructural de-fects of organelles such as plasma membrane,mitochondrial and microtubule damage could be found in globozoospermia.ICSI combined with AOA should be an effective assisted reproductive thyrapy strategy for the patients with globozoospermia.