OBJECTIVETo investigate the association between G72 gene polymorphisms and depression,and to probe the difference of G72 gene polymorphisms between depression with and without mixed family history.

METHODSThe polymorphisms of G72 gene (rs947267 and rs2181953) were detected by PCR technique in 100 depressive patients without mixed family history, 50 depressive patients with mixed family history and 86 normal controls.

RESULTS(1) The frequencies of rs947267 genotypes and alleles in female depressive patients without mixed family history were significant different to the controls (P=0.017 and P=0.008), the OR scores were 0.300 (A/A, P=0.010), 0.456(A, P=0.008) and 2.195(C, P=0.008) respectively; but in male patients there were no significant differences to the controls (P>0.05). (2) The frequencies of rs2181953 genotypes and alleles in the depressive patients without mixed family history were not significantly different to the controls regardless of sex (P>0.05). (3) The frequencies of rs947267 and rs2181953 genotypes and alleles in the depressive patients with mixed family history were not significantly different to the controls regardless of sex (P>0.05).

CONCLUSIONThe G72 gene polymorphism may be associated with female depressive patients without mixed family history,C allele of rs947267 may be the risk factor.

Alleles ; Carrier Proteins ; genetics ; Depressive Disorder ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Male ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics

OBJECTIVETo identify the gene causing hereditary multiple exostoses in a Chinese pedigree.

METHODSLinkage analysis was carried out in the family using microsatellite markers on chromosome 8, 11 and 19 respectively. To detect the mutation, the whole coding sequence and the intron-exon boundaries of the candidate gene were amplified and sequenced. The reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to amplify the mutated mRNA.

RESULTSThe disease-causing gene of the family was linked to the EXT2 locus on chromosome 11. A mutation IVS2+1G>A was detected in EXT2 and resulting in 221 bp deletion from 316 to 536 of coding sequence(CDS), which was co-segregated with the disease phenotype. This change led to deletion from codon 106 to codon 178 and subsequent 2 nucleotides, producing a frameshift and truncated protein of 125 aa.

CONCLUSIONThe mutation IVS2+1G>A is the disease-causing mutation in the Chinese pedigree with hereditary multiple exostoses.

Exostoses, Multiple Hereditary ; genetics ; Female ; Genes, Tumor Suppressor ; Genetic Linkage ; Humans ; Male ; Mutation ; N-Acetylglucosaminyltransferases ; genetics ; Reverse Transcriptase Polymerase Chain Reaction

OBJECTIVETo explore the molecular and epidemic characteristics of rifampin (RFP) and isoniazid (INH) resistance of mycobacterium tuberculosis (MTB) in Sichuan.

METHODSGenoType reg; MTBDRplus Assay GTplus was used to examine 68 clinical isolates of MTB and 105 clinical specimens for mutations in rpoB, katG and inhA genes related to RFP and INH resistance.

RESULTSOf the 151 valid tests obtained, 44 (29.14%) and 26 (17.22%) showed drug resistance and multidrug resistance, respectively. Resistance to RFP and INH was found in 21.85% (33/151) and 24.50% (37/151) of the samples, respectively. The most prevalent mutations were rpoB S531L, katG S315T1 and inhA C-15T. The multidrug resistance rate in the sputum specimens was significantly higher than that in the non-respiratory samples (19.35% vs 7.41%).

CONCLUSIONDrug-resistant, especially multidrug-resistant tuberculosis is highly prevalent in Sichuan. The multidrug-resistant bacteria most frequently show rpoB S531L combined with katG S315T1 mutations, suggesting the necessity of developing rapid clinical identification methods for drug-resistant MTB to control the spread of the resistant strains.

DNA, Bacterial ; analysis ; Drug Resistance, Multiple, Bacterial ; Genotype ; Humans ; Isoniazid ; pharmacology ; Mycobacterium tuberculosis ; drug effects ; isolation & purification ; Reagent Kits, Diagnostic ; Rifampin ; pharmacology ; Sputum ; microbiology ; Tuberculosis, Multidrug-Resistant ; diagnosis ; microbiology

Objective: To investigate the risk factors of chronic obstructive pulmonary disease (COPD) in Li and Han ethnic group in Hainan, China. Methods: All subjects were randomly selected from various regions in Hainan. General characteristics were compared between COPD cases and healthy control cases in both Li and Han ethnic groups. The odds ratio (OR), the corresponding 95% confidence interval (CI) of COPD were calculated by logistic regression. Results: A total of 277 Li COPD cases, 307 Li healthy control subjects, 290 Han COPD cases and 301 Han healthy control were included in this study. In both the Li and Han groups, the average age exceeded 65 years, and the cigarette number smoked per day and the smoking duration were correlated with risk of COPD. In the Li COPD subjects, low weight, smoking, and recurrent infection of respiratory tract were mainly risk factors; while the mainly risk factor of Han COPD subjects was family history of respiratory disease. Conclusions: The risk factors are different in COPD subjects of Han and Li nationalities in Hainan of China. The age and smoking are strongly correlated with COPD risk.

Objective: To study the efficacy, safety and long-term outcomes of integrated strategy of bortezomib-based induction regimens followed by autologous hematopoietic stem cell (ASCT) and maintenance therapy in Chinese multiple myeloma (MM) patients. Methods: 200 MM patients receiving integrated strategy of bortezomib--based induction regimens followed by ASCT and maintenance therapy were retrospectively and prospectively analyzed from December 1. 2006 to April 30. 2018. Results: The complete remission rates (CR) and better than very good partial remission rates (VGPR) after induction therapy, transplantation and maintenance therapy were respectively 31% and 75.5%, 51.8% and 87.7%,73.6% and 93.4%. There was no difference between 4 cycles and more than 5 cycles induction chemotherapy. The negative rate of MRD detection by flow cytometry was 17.6% and 38.2% respectively after induction and 3 months after transplantation. The negative rate of MRD gradually increased during the maintenance therapy. The success rate of high dose CTX combined with G-CSF mobilization was 95.5% and transplantation related mortality (TRM) was zero. The median time to progress (TTP) was 75.3 months and the median overall survival (OS) was 99.5 months. TTP of patients obtaining CR and negative MRD after induction were longer that those of no CR and positive MRD. TTP and OS of patients receiving triple-drug induction and ASCT in early stage were longer than those of double-drug induction and ASCT in late stage. LDH≥240 U/L, high risk cytogenetics, ISS II+III stage and HBsAg positive were prognostic factors at diagnosis. However, only MRD and high risk cytogenetics were independent prognostic factors after transplantation and maintenance therapy. The clinical characteristics of patients of TTP ≥6 years were listed below: light-chain type M protein, ISS I stage, normal level of hemoglobin and platelet, normal LDH, HBsAg negative, chromosome 17p-negative, good response and sustained good response. Conclusions: Integrated strategy of bortezomib-based induction regimens followed by ASCT and maintenance therapy can significantly improve the short-term and long-term efficacy. The prognostic factors of TTP in different disease stages were different. Response to treatment, especially MRD, played a more important role in prognostic factors.
Antineoplastic Combined Chemotherapy Protocols ; Bortezomib/therapeutic use* ; Follow-Up Studies ; Hematopoietic Stem Cell Transplantation ; Humans ; Induction Chemotherapy ; Multiple Myeloma/therapy* ; Retrospective Studies ; Stem Cell Transplantation ; Transplantation, Autologous ; Treatment Outcome

Diffuse large B-cell lymphoma (DLBCL) accounts for approximately 30% of the non-Hodgkin's lymphoma patients. The underlying molecular mechanism of its pathogenesis is not well defined and the survival rate of DLBCL patients is very low. Moreover, the annual incidence and mortality of DLBCL is still rising. Accordingly, identification and characterization of new molecular pathways of DLBCL will lead to the development of novel diagnostic markers and molecular therapeutic targets. Long non-coding RNAs (LncRNA) are non-coding RNAs with a length greater than 200 bp in eukaryotic cells, which can regulate the expression of their target genes at the transcriptional and post transcriptional levels. The function of LncRNAs is involved in the initiation, progression, invasion and metastasis of many cancers. Recently, the role of LncRNAs in DLBCL has been identified and intensely studied. This review summarizes the recent discoveries in the expression and function of LncRNAs including HULC,PEG10,LincRNA-p21,HOTAIR,LUNAR1,MALAT1 and SubSigLnc-17 in DLBCL, so as to find potential diagnostic biomarkers and therapeutic targets for DLBCL.
Cell Line, Tumor ; Genes, Regulator ; Humans ; Lymphoma, Large B-Cell, Diffuse ; RNA, Long Noncoding

BackgroundHome-based intervention occupies a prominent place in the treatment of autism spectrum disorder （ASD） in children， whereas previous studies on the effect of home-based early intensive behavioral intervention on verbal ability of children with ASD are somewhat inadequate. ObjectiveTo study the effects of intensive family behavioral of intervention based on Verbal Behavior Milestones Assessment and Placement Program （VB-MAPP） on the language ability of children with ASD， so as to provide references for the development of family intervention strategies for children with ASD. MethodsChildren aged 2 to 3 years old who attended the Children's Rehabilitation Department of the Second Affiliated Hospital of Shantou University Medical College from September 2020 to December 2021 and met the Diagnostic and Statistical Manual of Mental Disorders， fifth edition （DSM-5） diagnostic criteria for ASD were selected as the study objects. A non-randomized concurrent control trial was conducted to compare a study group （n=24） receiving home-based early intensive behavioral intervention using VB-MAPP with a control group （n=14） receiving training from other special institutions or early childhood education institutions. The intervention lasted for 6 months in both groups. Before and after the intervention， the VB-MAPP milestone assessment was performed in the two groups， and the VB-MAPP milestone score， mand， trac and listener responds were selected as the study indicators. Then the intervention effect was compared between two groups， and the multiple linear regression was performed to screen the related influencing factors. ResultsAfter intervention， the total milestone assessment score， mand， tact and listener responds scores of study group were higher than those of control group， with statistical difference （Z=-4.339~-2.195， P<0.05 or 0.01）. Multiple linear regression analysis denoted that the average weekly hours of home-based intervention in the first three months had certain effect on listener responds （β=1.029， P<0.05）. ConclusionApplication of home-based early intensive behavior intervention using VB-MAPP may contribute to the improvement of verbal abilities such as mand， tact and listener responds in children with ASD. ［Funded by 2020 Guangdong Provincial Science and Technology Innovation Strategy Special Fund （number， 20200601）］

Aging is a natural process accompanied with a progressive deterioration of cognitive functions. With an aging population, more and more elderly people are suffering from cognitive impairment. Previous studies have paid more attention to the impact of inflammation and oxidative stress on cognitive function during aging. Recently, it has been discovered that neurovascular coupling (NVC), a mechanism regulating cerebral blood flow, may play a significant role in aging-related cognitive impairment. NVC responses regulate the supply of energy substances and oxygen during brain activity, which in turn enhances cognitive function. However, as people grow older, NVC responses gradually weaken, which may be one of the mechanisms underlying aging-induced cognitive impairment. Given the important role of NVC responses in the brain, it is necessary to search for intervention methods that can improve NVC responses and promote cognitive function. Exercise is an effective means to delay aging and improve cognitive function. It also has a certain promoting effect on NVC responses. This article reviews the regulatory mechanisms of NVC responses, the relationship between NVC responses and cognitive function, and explores the effects of aging and exercise intervention on NVC responses, hoping to provide new research ideas for exercise intervention to improve NVC responses and promote cognitive function in the elderly.
Humans ; Aged ; Neurovascular Coupling/physiology* ; Aging ; Cerebrovascular Circulation/physiology* ; Cognition ; Brain

Chronic pancreatitis (CP) is a progressive and irreversible fibroinflammatory disorder, accompanied by pancreatic exocrine insufficiency and dysregulated gut microbiota. Recently, accumulating evidence has supported a correlation between gut dysbiosis and CP development. However, whether gut microbiota dysbiosis contributes to CP pathogenesis remains unclear. Herein, an experimental CP was induced by repeated high-dose caerulein injections. The broad-spectrum antibiotics (ABX) and ABX targeting Gram-positive (G⁺) or Gram-negative bacteria (G^-) were applied to explore the specific roles of these bacteria. Gut dysbiosis was observed in both mice and in CP patients, which was accompanied by a sharply reduced abundance for short-chain fatty acids (SCFAs)-producers, especially G⁺ bacteria. Broad-spectrum ABX exacerbated the severity of CP, as evidenced by aggravated pancreatic fibrosis and gut dysbiosis, especially the depletion of SCFAs-producing G⁺ bacteria. Additionally, depletion of SCFAs-producing G⁺ bacteria rather than G^- bacteria intensified CP progression independent of TLR4, which was attenuated by supplementation with exogenous SCFAs. Finally, SCFAs modulated pancreatic fibrosis through inhibition of macrophage infiltration and M2 phenotype switching. The study supports a critical role for SCFAs-producing G⁺ bacteria in CP. Therefore, modulation of dietary-derived SCFAs or G⁺ SCFAs-producing bacteria may be considered a novel interventive approach for the management of CP.

Aim To study the effect of different hepa- ry.Methods First, heparin derivatives with different rin sulfation patterns on bleomycin induced lung inju- sulfation patterns,6-desulfated heparin (6-DeH) and N-acetvlated heparin ( N-AcH ) , were synthesized.Secondly, the effect of these compounds on BLM-in¬duced bronchial epithelial cell ( BEARS-2B) injury was evaluated via lactate dehydrogenase activity, MTT experiment, Annexin V/ PI staining and Hoechst 33258 staining.Then , immunofluorescence staining and West¬ern blotting were used to investigate the shedding of Svndecan-1 and the activation of c-Met by 6-DeH/Akt j j signaling pathway.Finally, a BLM-induced lung injury mouse model was used to further verify the protective effect of 6-DeH by HE staining, Svndecan-1 immunos- taining,bodv weight change,and survival rate.Results In the BLM-induced BEARS-2B injury model, 6- DeH was selected as the best candidate, which exerted their effect by competitively binding to BLM, thereby reducing the damage of heparan sulfate barrier (Svnde- can-1 ) on cell surface, and improving cell survival by activating the downstream c-Met/Akt pathway.In the BLM-induced lung injury mouse model, it was further confirmed that 6-DeH reduced the shedding of Svnde- can-1 in the early stage, and delayed the lung injury and fibrosis process.Conclusions 6-DeH protects the bronchial epithelial cells against BLM-induced lung in¬jur)' through inhibiting the shedding of Svndecan-1 and activating the c-Met/Akt signaling pathway.