OBJECTIVETo analyze the potential pathogenic genomic imbalance in children with unexplained intellectual disability (ID) and/or developmental delay (DD) and its association with phenotypes, and to investigate the value of array-based comparative genomic hybridization (array-CGH) in clinical molecular genetic diagnosis.

METHODSThe whole genome of 16 children with ID/DD was scanned by the array-CGH for detection of genomic copy number variations (CNVs), and the revealed genomic imbalance was confirmed by multiplex ligation-dependent probe amplification.

RESULTSG-band karyotyping of peripheral blood cells showed no abnormalities in the 16 children. The results of the array-CGH revealed that 6 (38%) of the 16 patients had genomic CNVs, and 3 cases of CNVs were normal polymorphic changes; 1 CNV was a microdeletion of 4p16.3, which was the critical region for Wolf-Hirschhorn syndrome, and 1 CNV was a microdeletion of 7q11.23, which was the critical region for Williams-Beuren syndrome. Moreover, a CNV was identified with two duplications at 2q22.2 and 15q21.3 in a boy, which proved to have a clinical significance due to its association with ID, brain DD, unusual facies, cryptorchidism, irregular dentition, etc.

CONCLUSIONSArray-CGH allows for the etiological diagnosis in some of the children with unexplained ID/DD. As a high-throughput and rapid tool, it has a great clinical significance in the etiological diagnosis of ID/DD.

Adolescent ; Child ; Comparative Genomic Hybridization ; methods ; Developmental Disabilities ; diagnosis ; genetics ; Female ; Humans ; Infant ; Intellectual Disability ; diagnosis ; genetics ; Male ; Multiplex Polymerase Chain Reaction

Objective:To investigate the immunological features of 135 patients with corona virus disease 2019 (COVID-19), and to provide reference for the pathogenesis of the disease.Methods:The clinical and laboratory data of 135 confirmed COVID-19 patients in Guangzhou Eighth People′s Hospital from January 23 to February 29, 2020 were collected. The features of lymphocytes (CD4 + and CD8 + T lymphocytes, B lymphocytes, natural killer cells and natural killer T cells), and cytokines (interleukin (IL)-2, IL-4, IL-6, IL-10, tumor necrosis factor (TNF)-α and interferon (IFN)-γ) of patients at a median of 19 (14, 27) days of admission were analyzed. Kruskal-Wallis test, Mann-Whitney U test, chi-square test and Spearman rank correlation were used for statistical analysis. Results:Patients were divided into three groups according to the relevant diagnostic criteria, including mild group (14 cases), ordinary group (92 cases) and severe group (29 cases). Decreased CD4 + T lymphocytes were found in 44.4% (60/135) patients, while decreased CD8 + T lymphocytes were found in 42.2%(57/135) patients. Compared to mild group and ordinary group, level of CD4 + T lymphocytes in severe group was significant lower ( Z=4.379 and 3.799, respectively, both P<0.01), and level of CD8 + T lymphocytes was also significant lower ( Z=2.684 and 3.306, respectively, P=0.022 and 0.003, respectively). Decreased B lymphocytes were found in 25.3% (24/95) patients and significant different among the three groups, with the lowest levels ((88(56, 189)/μL; Z=6.199, P=0.045) and most frequency of decreased levels ((52.2%(12/23); χ2=11.723, P=0.003) in the severe group. Compared to the mild group and the ordinary group, IL-6 level in severe group was significant higher ( Z=-4.022 and -4.108, respectively, both P<0.01) and IL-10 level was also significant higher ( Z=-3.261 and -4.006, respectively, both P<0.01). Similar levels of IL-2, IL-4, TNF-α and IFN-γ were found among three groups (all P>0.05). The IL-6 level was positively correlated with the persistence of viral shedding ( r=0.301, P=0.007). Conclusion:The immune-mediated inflammation may be the important cause of disease deterioration of COVID-19, which might be the key target of the treatment of severe cases.

Present study investigated the role of mesenchyme homeobox 2 (MEOX2) gene in neurovascular dysfunction in Alzheimer's disease (AD) model rats by bilateral intracerebroventricular injection of Aβ_1-42. One week after surgery, Morris water maze, immunohistochemistry, biochemical detection, Western blot and real-time PCR were used to detect the indexes. The animal studies were conducted in accordance with the Regulations of Experimental Animal Administration issued by the State Committee of Science and Technology of the People's Republic of China. Compared to the Sham-operated rats, Aβ_1-42-operated rats showed obviously cognitive dysfunction, accompanied by increased Aβ, glial fibrillary acidic protein (GFAP), allograft inflammatory factor 1 (AIF1), endothelial nitric oxide synthase (eNOS) and decreased neuron specific enolase (NSE), synaptophysin (SYN), CD34, vascular endothelial growth factor (VEGF) expressions of brain. Aβ_1-42-operated rats also increased the endothelin (ET) level and decreased nitric oxide (NO) level in brain tissue. Moreover, MEOX2 expression was decreased correlated with low density lipoprotein receptor-related protein 1 (LRP-1) decreasing and receptor for advanced glycation end products (RAGE) increasing in brain tissues of AD model rats. We found the correlation between MEOX2 gene expression and neurovascular dysfunction, in addition, the decreased MEOX2 may involve in increasing the accumulation of Aβ in brain by relating to the decreased LRP-1 and increased RAGE which is located in blood-brain barrier (BBB) in senescence-accelerated mice.

The novel coronavirus pneumonia was first discovered in December 2019. By February 21, 2020, the virus had spread to 27 countries, and the total number of patients were nearly 80 thousands. In order to effectively prevent and control the epidemic, countries around the world are organizing scientific research, especially in screening of therapeutic drugs, researching and developing of vaccine, which is the key point and difficulty of epidemic control. On the basis of a large number of relevantly collected information about drugs and biological products in the academia and the press of various countries, this paper focus on the research status and development of antiviral chemical drugs, Chinese traditional medicines and biological products, aiming to provide reference for relevant departments, units and scientists.

OBJECTIVE: To investigate the status of vaccination in children with human immunodeficiency virus (HIV) infection. METHODS: A questionnaire survey was performed in 148 children in Hunan province, China who were registered in China's Acquired Immune Deficiency Syndrome Comprehensive Response Information Management System up to December 31, 2016 and were aged <15 years at the time of confirmed diagnosis of HIV infection. The information on vaccination, diagnosis of HIV infection, and diagnosis and treatment of related diseases was collected. RESULTS: Of the 148 children with HIV infection, there were 70 boys (47.3%) and 78 girls (52.7%); 140 children had an age of 3.8 (0.2-14.8) years at the time of confirmed diagnosis, and 8 children refused to answer this question. Mother-to-child transmission was found in 133 children (91.7%), blood transmission in 1 child (0.7%), and unknown in 14 children (9.5%). Of the 148 children, 129 (87.2%) received antiviral therapy and 19 (12.8%) did not receive such treatment. The vaccination rates of hepatitis B vaccine, bacille Calmette-Guérin vaccine, poliomyelitis live attenuated vaccine and diphtheria-pertussis-tetanus vaccine ranged from 70.9% to 77.7%, which was significantly lower than the national level (≥97%); the vaccination rates of the other vaccines in the National Immunization Program gradually decreased with age. No severe adverse effects were reported after vaccination. CONCLUSIONS Mother-to-child transmission is the main route of HIV infection in Chinese children. The diagnosis of children with HIV infection is significantly delayed, with low vaccination rates. Efforts should be made to strengthen early diagnosis, early treatment and vaccination in children with HIV infection, in order to improve their quality of life.
Adolescent ; Child ; Child, Preschool ; China ; Diphtheria-Tetanus-Pertussis Vaccine ; Female ; HIV ; HIV Infections ; Humans ; Infant ; Male ; Quality of Life ; Vaccination

Objective:To study the epidemic situation of Marmota himalayana plague and Yersinias infection in Yugur Autonomous County of Sunan (Sunan County) of Gansu Province, and to provide new ideas for prevention and control of plague. Methods:From 2014 to 2018, liver and spleen, cecum, throat swabs and blood samples of Marmota himalayana were collected on the spot in Sunan County, where Yersinia strains were isolated and identified, and plague F1 antigen and antibody were detected. Results:A total of 634 liver and spleen samples, 427 cecum samples and 426 throat swabs samples were collected from Marmota himalayana, and 23 strains of Yersinia pestis, 2 strains of Yersinia marcescens, and 1 strain of Yersinia flexneri were detected, with the detection rates of 3.63% (23/634), 0.47% (2/427) and 0.23% (1/426), respectively. The detection rate of Yersinia pestis in different years was statistically significantly different (χ 2 = 13.19, P = 0.010). A total of 1 822 serum samples of Marmota himalayana were detected, and 5 F1 antibody positive samples were detected, with a positive rate of 0.27%, the difference of positive rate between different years was statistically significant (χ 2 = 25.22, P < 0.001); 282 liver and spleen tissue homogenates of Marmota himalayana were detected, 22 F1 antigen positive samples were detected, the positive rate was 7.80%, and there was no statistically significant difference between different years (χ 2 = 7.85, P = 0.097). The 23 strains of Yersinia pestis detected were distributed in Mati Tibetan Township (12 strains), Dahe Township (6 strains) and Qifeng Tibetan Township (5 strains); 1 strain of Yersinia flexneri and 2 strains of Yersinia marcescens were both located in Dahe Township. Conclusion:There is an epidemic of plague among animals in Sunan County from 2014 to 2018, and the areas where Yersinia pestis and non pathogenic Yersinia are detected overlapped.

OBJECTIVETo investigate the frequencies of GSTM1, GSTT1 and GSTP1 polymorphisms in Dong, Yi and Yao ethnic groups from Guizhou.

METHODSIn 321 volunteers who were population-based, GSTM1 and GSTT1 polymorphisms were analyzed by a multiplex-PCR procedure, whereas GSTP1 polymorphism was analyzed by PCR-RFLP method.

RESULTSNull genotype for GSTM1 and GSTT1 was 59.6%-71.2% and 39.4%-72.5%, respectively. The genotypic distribution of GSTP1 was 63.3%-75% for AA, 23.2%-35.8% for AG, 0-1.9% for GG, whereas the allelic frequencies were 81.2%-86.6% for the A allele, and 13.4%-18.8% for the G allele.

CONCLUSIONThere is a significant relationship between GSTT1 frequencies and ethnic populations.

Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Ethnic Groups ; genetics ; Female ; Gene Frequency ; genetics ; Genotype ; Glutathione S-Transferase pi ; genetics ; Glutathione Transferase ; genetics ; Humans ; Male ; Middle Aged ; Mutation ; Polymorphism, Genetic

To give an overview of contemporary experimental research using Chinese medicine (CM) for the treatment of cancer. As an integral part of mainstream medicine in the People's Republic of China, CM emphasizes improvements in holistic physical condition instead of merely killing tumor cells, which is consistent with the current medical model that advocates patient-oriented treatment. Great progress has been made in experimental research, and the principle aspects include anti-tumor angiogenesis, inducing apoptosis and differentiation, reversing multidrug resistance, and improving immune function. As a current hot topic in cancer research, tumor microenvironment (TME) highlights the mutual and interdependent interaction between tumor cells and their surrounding tissues, and the CM treatment concept bears a striking resemblance to it. To date, primary points of TME include extracellular matrix remodeling, inflammation, hypoxia, and angiogenesis, but trials using CM with a focus on TME are rare. Despite considerable recent development, experimental research on CM for solving cancer issues appears insufficient. Greater efforts in this field are urgently needed.
Apoptosis ; drug effects ; Autophagy ; drug effects ; Cell Differentiation ; drug effects ; Cell Hypoxia ; drug effects ; Drug Resistance, Multiple ; drug effects ; Immunomodulation ; Inflammation Mediators ; pharmacology ; Medicine, Chinese Traditional ; Neoplasms, Experimental ; Research ; Tumor Microenvironment ; drug effects ; physiology

Owing to its unique superiority in improving quality of life and prolonging survival time among advanced lung cancer patients, Chinese medicine (CM) has, in recent years, received increased attentions worldwide. We utilized a bibliometric statistical method based on MEDLINE/GoPubMed to conduct a comprehensive analysis of the current application status of CM in lung cancer, by including annual and accumulated publications, origin distribution of countries and journals, and keywords with a higher frequency score. Then the relevant clinical trials and mechanistic studies were systematically summarized within the field according to research types. We have raised potential problems and provided potentially useful reference information that could guide similar studies in the future. The basic experimental results are highly consistent with clinical trials, leading us to conclude that CM can offer better overall therapeutic benefits when used in combination with routine Western medicine for patients with advanced lung cancer.

OBJECTIVE: To investigate the effects and mechanisms of intermittent and persistent noise exposure-induced anxiety and depression-like behavior in rats. METHODS: The specific pathogen free male SD rats were randomly divided into control group, four times/day intermittent noise exposure group, two times/day intermittent noise exposure group and persistent noise exposure group, with 15 rats in each group. The rats in the control group were housed in natural environment(background noise ≤50 dB), and the rats in other three exposure groups were exposed to noise with intensity of(95±2) dB of 20 to 20 000 Hz noise for four hours per day for 14 days; rats in the four times/day intermittent noise exposure group entered a five-hour quiet period every one hours of noise exposure, four times/day; rats in the two times/day intermittent noise exposure group entered a 10-hour quiet period every two hours of noise exposure, two times/day; rats in the persistent noise exposure group entered a 20-hour quiet period every four hours of noise exposure. After exposure, anxiety like behavior was evaluated by open field test and elevated cross maze test. The depression like behavior was evaluated by sugar preference test and forced swimming test. The pathological changes of neurons in the hippocampus were observed by hematoxylin-eosin(HE) staining, and the ultrastructural changes of hippocampal tissues were observed by transmission electron microscope. Chemiluminescence and colorimetry were used to detect the levels of reactive oxygen species(ROS), malondialdehyde, glutathione(GSH) and the activity of superoxide dismutase(SOD). RESULTS: In the behavioral experiment, the percentage of exercise time in the central area decreased in the three noise exposure groups(all P<0.01). The exercise distance in the central area and sugar preference index decreased in the persistent noise exposure group(both P<0.01). The percentage of open arm exercise time and open arm exercise distance decreased in the two times/day intermittent noise exposure group and persistent noise exposure group compared with the control group(all P<0.01). The open arm distance of rats in the persistent noise exposure group were lower than those in the four times/day intermittent noise exposure group(P<0.05), while the immobility time was longer than in control group and the four times/day intermittent noise exposure group(both P<0.05). The HE staining showed that the neuronal spacing in CA1 area of the hippocampus of rats was significantly widened, and the pyramidal cells showed degeneration and necrosis in the persistent noise exposure group. There was no obvious necrosis found in the neurons of the other three groups. The ultrastructure of neurons showed that most mitochondria of cells in the hippocampus of rats in the two times/day intermittent noise exposure group were swollen. In the persistent noise exposure group, some neurons of the hippocampus of rats were necrotic, the cell membrane was discontinuous, the mitochondria were swollen, and the cristae were broken, dissolved or even disappeared. The mitochondrial structure of the hippocampus of rats in the other two groups was normal. The activity of SOD in the hippocampus of rats decreased in the four times/day intermittent noise exposure group(P<0.05), and the activity of SOD and the level of GSH in the hippocampus of rats decreased in the two times/day intermittent noise exposure group(both P<0.05), compared with the control group. The level of ROS and malondialdehyde in the hippocampus of rats in the persistent noise exposure group increased(all P<0.05), while the SOD activity and GSH level decreased(all P<0.05), compared with the other three groups. CONCLUSION: Intermittent noise exposure causes less anxiety and depression-like changes in rats than persistent noise exposure. Noise may cause anxiety and depression in rats through oxidative stress pathways.