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OBJECTIVE: This study aims to 1) explore the association between autistic traits and eating behaviors in Chinese preschoolers; 2) explore the mediating role of sensory processing patterns on the relation of autistic traits and eating-related behaviors; and 3) examine home nurturing environment as a moderator between autistic traits and eating-related behaviors. We hypothesize that there is a significant association between autistic traits and eating behaviors, which is mediated by sensory processing patterns and moderated by the home nurturing environment. METHOD: 509 children aged 3-4 years participated in this cross-sectional research. They were assessed using the Social Responsiveness Scale-Second Edition (SRS-2) for autistic traits, the Chinese Preschoolers' Eating Behavior Questionnaire (CPEBQ) for eating-related behaviors, the Short Sensory Profile-Second Edition (SSP-2) for sensory processing patterns, and the Children Home Nurture Environment Questionnaire (CHNEQ) for home nurturing environment. Mediation regression analyses were used to examine the role of sensory processing patterns, while moderation analyses to examine the role of home nurturing environment. RESULTS: We observed a positive association between autistic traits and eating behavior problems among typically developed children. Sensory processing patterns significantly mediated the impact of autistic traits on children's eating-related behaviors and home nurturing environment also moderated this relationship. DISCUSSION: Our research suggests that Chinese preschoolers with higher autistic traits may face more eating challenges when they possess more heightened sensory processing patterns, while living in supportive home environments helps to improve their eating behaviors. These findings contribute to the understanding of how and to what extent eating problems are influenced by autistic traits, and they offer insight into the alleviation of eating problems from the perspectives of sensory patterns and family nurturing environments.
Subject(s)
Feeding Behavior , Home Environment , Humans , Child, Preschool , Male , Female , Feeding Behavior/psychology , Cross-Sectional Studies , Surveys and Questionnaires , China , Autistic Disorder/psychology , Child Behavior/psychology , Sensation , Asian People/psychology , East Asian PeopleABSTRACT
BACKGROUND: Geological movements and climatic fluctuations stand as pivotal catalysts driving speciation and phylogenetic evolution. The genus Polyspora Sweet (Theaceae), prominently found across the Malay Archipelagos and Indochina Peninsula in tropical Asia, exhibits its northernmost distribution in China. In this study, we investigated the evolutionary and biogeographical history of the genus Polyspora in China, shedding light on the mechanisms by which these species respond to ancient geological and climatic fluctuations. METHODS: Phylogenetic relationships of 32 representative species of Theaceae were reconstructed based on the chloroplast genome and ribosome 18-26 S rRNA datasets. Species divergence time was estimated using molecular clock and five fossil calibration. The phylogeography and population genetics in 379 individuals from 32 populations of eight species were analyzed using chloroplast gene sequences (trnH-psbA, rpoB-trnC and petN-psbM), revealing the glacial refugia of each species, and exploring the causes of the phylogeographic patterns. RESULTS: We found that Chinese Polyspora species diverged in the middle Miocene, showing a tropical-subtropical divergence order. A total of 52 haplotypes were identified by the combined chloroplast sequences. Chinese Polyspora exhibited a distinct phylogeographical structure, which could be divided into two clades and eight genealogical subdivisions. The divergence between the two clades occurred approximately 20.67 Ma. Analysis of molecular variance revealed that the genetic variation mainly occurred between species (77.91%). At the species level, Polyspora axillaris consists of three lineages, while P. speciosa had two lineages. The major lineages of Chinese Polyspora diverged between 12 and 15 Ma during the middle to late Miocene. The peak period of haplotype differentiation in each species occurred around the transition from the last interglacial to the last glacial period, approximately 6 Ma ago. CONCLUSION: The primary geographical distribution pattern of Chinese Polyspora was established prior to the last glacial maximum, and the population historical dynamics were relatively stable. The geological and climatic turbulence during the Quaternary glacial period had minimal impact on the distribution pattern of the genus. The genus coped with Quaternary climate turbulence by glacial in situ survival in multiple refuges. The Sino-Vietnam border and Nanling corridor might be the genetic mixing center of Polyspora.
Subject(s)
Genetic Variation , Genetics, Population , Humans , Phylogeography , Phylogeny , China , Asia , Haplotypes/genetics , DNA, Chloroplast/genetics , Evolution, MolecularABSTRACT
OBJECTIVE: This study aims to explore the caregiver burden experience in the care of infants with congenital megacolon undergoing home reflux enema. The findings will provide a basis for developing targeted and effective nursing interventions. METHODS: A phenomenological research approach was employed. From October 2022 to January 2023, semi-structured in-depth interviews were conducted with 12 caregivers of infants with congenital megacolon undergoing home reflux enema in a tertiary paediatric hospital in Fujian Province. The collected data were analysed and organized using the Colaizzi's 7-step analysis method, leading to the identification of key themes. RESULTS: The analysis yielded three major themes concerning the caregiver burden experience in the care of infants with congenital megacolon undergoing home reflux enema: inadequate disease-related knowledge, presence of multiple pressures during the caregiving process, and a desire for greater support. CONCLUSIONS: This study employed qualitative interviews with the caregivers of 12 children with congenital Hirschsprung's disease undergoing home reflux enema, and the feelings of caregivers of children with reflux enema at home after discharge were deeply understood. It is recommended to implement positive psychological interventions based on the PERMA model and incorporate "Internet + collaborative nursing" to provide caregivers with professional knowledge, address their pressures and needs, and promote their well-being while enhancing nursing abilities.
Subject(s)
Hirschsprung Disease , Infant , Humans , Child , Caregiver Burden , Enema , Caregivers/psychology , Emotions , Qualitative ResearchABSTRACT
BACKGROUND: Hepatitis B virus (HBV) infection remains a major public health issue worldwide. Moreover, its prevalence varies significantly in different geographic areas of China. The current study aimed to assess the prevalence of HBV infection among Hakka pregnant women in Meizhou, a remote mountainous region in southern China. METHODS: This research was performed between January 2015 and December 2020. In total, 16,727 pregnant women receiving antenatal care at Meizhou People's Hospital were included in the analysis. All pregnant women were screened for serum HBV markers. RESULTS: The prevalence rates of hepatitis B surface antigen (HBsAg) and hepatitis B surface antibody positivity among the participants were 11.74% (n = 1964) and 48.00% (n = 8029), respectively. The overall prevalence rates of susceptibility to infection, HBV immunity, previous/occult infection, inactive HBsAg carrier, and active infection were 36.16%, 33.61%, 16.94%, 8.11%, and 2.30%, respectively. According to age distribution, the prevalence rate of HBsAg positivity elevated concomitantly with increasing age (p < 0.001). From 2015 to 2020, the prevalence rate of HBsAg positivity decreased from 14.50% to 8.19% and that of hepatitis B pre-core antigen positivity from 4.42% to 2.31%. In addition, pregnant women with HBsAg-positive status were more likely to present with gestational diabetes, thrombocytopenia, and anemia than those with HBsAg-negative status. CONCLUSION: The HBV infection rate remains high among pregnant women in the indigenous Hakka population in southern China. To prevent vertical transmission, cautious surveillance of maternal HBV infection status should be considered in Hakka pregnant women in Meizhou.
Subject(s)
Hepatitis B , Pregnancy Complications, Infectious , Female , Pregnancy , Humans , Hepatitis B virus , Pregnant Women , Hepatitis B Surface Antigens , Retrospective Studies , Prevalence , China/epidemiologyABSTRACT
Background: Wilms tumor is the most common childhood kidney malignant tumor. However, the genes and signaling pathways associated with the disease remain incompletely understood. Methods: GSE66405, GSE73209, and GSE11151 were collected from the Gene Expression Omnibus (GEO) database, and differentially expressed genes (DEGs) were detected using R software. A protein-protein interaction (PPI) network was constructed using the STRING database, and the clustering modules and hub genes were analyzed with the Cytoscape software. Genes functional enrichment analyses were performed using the package "clusterProfiler" in R software, and the gene set enrichment analysis (GSEA) analysis was performed using GSEA v4.1.0 software. Results: Respectively, 3,092, 620, and 3,567 DEGs were screened in GSE66405, GSE73209, and GSE11151, with a total of 474 common DEGs detected in three expression profiles. For the common DEGs, the top 30 significant results of Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways enrichment analyses were presented. Furthermore, five modules were found as the most related modules to Wilms tumor. GO term and KEGG pathway enrichment analyses of the genes in all the modules identified 10 GO terms and 5 KEGG pathways as significantly enriched. The top 10 hub DEGs of the PPI network were ALB, CDH1, EGF, AQP2, REN, SLC2A2, SPP1, UMOD, NPHS2, and FOXM1, with ALB identified as the highest degree. GSEA results showed 11 pathways were correlated with ALB expression in GSE66405 and 10 pathways were related to the expression of the ALB gene in GSE73209. Conclusions: Our study revealed robust gene signatures in Wilms tumor. Dysregulations of the signaling pathways were associated with the development and progression of the Wilms tumor, and 10 hub genes may play important roles in its diagnosis and therapy.
ABSTRACT
Orange peel waste (OPW) and sewage sludge (SS) valorization for volatile fatty acids (VFAs) production from anaerobic co-fermentation are attractive and feasible. The highest VFAs reached 11996.3 mg COD/L within 10 d at the mass ratio (TS/TS) of 1:1, which was approximately 30-fold of that in sole SS fermentation. The OPW provided plenty of organic substrates and facilitated the fermentation processes by disintegrating SS structure and inhibiting methanogenesis due to the abundant limonene. Also, the OPW feeds reshaped the microbial community and enriched fermentative bacteria, especially those saccharolytic ones (i.e. Prevotella-7). The key genes involved in membrane transport (i.e. ptsG), glycolysis (i.e. pgk), pyruvate metabolism (i.e. ace), and fatty acid biosynthesis (i.e. accA), which are associated with VFAs biosynthesis, were up-regulated in OPW/SS reactors. Overall, it was the increase in bioavailable organic matter and functional microorganisms, and the simultaneous enhancement of metabolic activity that improved the efficient VFAs production.
Subject(s)
Citrus sinensis , Sewage , Anaerobiosis , Bioreactors , Fatty Acids, Volatile , Fermentation , Hydrogen-Ion Concentration , Limonene , Sewage/microbiologyABSTRACT
The first examples of extended Mo3IV-polyoxometalates (Mo3IV-POMs), 1D-H2 [Ge2Mo6IVMo4VIO31Zn(H2O)py9]·2Hpy·HOCH2CH2 OHâ¢4H2O(H2[1]·2Hpyâ¢glycol·H2O) and 2D-[P@Mo3IVMo9VIZn6(PO4)6O32py8]Cl·2py·7H2O ([2]·Clâ¢2py·7H2O), were prepared through the solvothermal partial oxidation of [Mo3IVO2(O2CCH3)6(H2O)3]ZnCl4 in py/H2O containing glycol (for 1) or H3PO4 (for 2). They were characterized by X-ray crystallography and elemental analyses. Their electronic structure and bonding were discussed on the basis of density functional theory (DFT) theoretical calculations. X-ray photoelectron spectroscopy, IR/UV-vis spectra, powder X-ray diffraction, thermal gravimetric analysis, and mass spectrometry were also performed and discussed for 2D-2.
ABSTRACT
Epidemiological studies suggest a bidirectional association between depression and obesity; however, the biological mechanisms that link the development of depression to a metabolic disorder remain unclear. Even though nuclear receptor peroxisome proliferator-activated receptor γ (PPARγ) agonists show anti-depressive effect, and high-fat diet-(HFD)-induced PPARγ dysfunction is involved in the pathogenesis of metabolic disorders, the neuronal PPARγ has never been studied in HFD-induced depression. Thus, we aimed to investigate the effect of neuronal PPARγ on depressive-like behaviors in HFD-induced obese mice.We fed male C57BL/6 J mice with HFD to generate obese mice and conducted a series of behavioral tests to assess the effects of HFD feeding on depression. We generated neuron-specific PPARγ knockout mice (NKO) to determine whether neuronal PPARγ deficiency was correlated with depressive-like behaviors. To further prove whether PPARγ in the medial prefrontal cortex (mPFC) neurons is involved in depressive-like behaviors, we applied AAV- CaMKIIα-Cre approach to specifically knockout PPARγ in the mPFC neurons of LoxP mice and used AAV-syn-PPARγ vectors to overexpress PPARγ in the mPFC neurons of NKO mice.We observed a low mPFC PPARγ level and an increase in depressive-like behaviors in the HFD-fed mice. Moreover, neuronal-specific PPARγ deficiency in mice induced depressive-like behaviors, which could be abolished by imipramine. Furthermore, overexpressing PPARγ in the mPFC reversed the depressive-like behaviors in HFD-fed mice as well as in neuronal-specific PPARγ knockout mice.These results implicate that dysregulation of neuronal PPARγ in the mPFC may contribute to an increased risk for depression in obese populations.
Subject(s)
Diet, High-Fat , PPAR gamma , Animals , Depression/metabolism , Diet, High-Fat/adverse effects , Male , Mice , Mice, Inbred C57BL , Mice, Knockout , Obesity/complications , Obesity/metabolism , PPAR gamma/metabolism , Prefrontal Cortex/metabolismABSTRACT
This work explored the feasibility of paper waste (PW)/sewage sludge (SS) co-fermentation for volatile fatty acids (VFAs) production, and disclosed its correlation with the key operational parameters (i.e., pH and PW/SS ratio). The results indicated that the maximal VFAs was 251.55 mg COD/g TSS at optimal conditions, which was approximately 10-folds of sole SS fermentation. PW feeding contributed to the bioavailable substrates and C/N balance during co-fermentation process. The pH exhibited evident impacts on organics solubilization/hydrolysis, in which acidic pH was more beneficial for carbohydrates metabolism while alkaline pH was better for proteins. Under optimal operational conditions, the metabolic functions associated with VFAs production (i.e., substrate membrane transport, intracellular metabolism and VFAs biosynthesis) were up-regulated. Moreover, functional microorganisms (i.e., Saccharofermentans and Bacteroides) responsible for VFAs generation were enriched. This work provided an innovative approach to recovery valuable products from biowastes, and in-depth understandings of microbial features in PW/SS co-fermentation systems.
Subject(s)
Fatty Acids, Volatile , Sewage , Bioreactors , Fermentation , Hydrogen-Ion Concentration , HydrolysisABSTRACT
In the presence of the roughly flat sequestering agent, [K(18-crown-6)]+, the reaction of Rh2(CO)4Cl2 with K5Bi4 in ethylenediamine (en) solution at room temperature yielded the heterometallic cluster anion [Rh@Bi10(RhCO)6]3- (1), in which two hitherto unknown Binm- building blocks (i.e., Bi6 crown and Bi4 pyramid) were stabilized by six +Rh-CO units. When the reaction was carried out at 60 °C using Rh(acac)(CO)2 (acac = acetylacetonate) as the source of +Rh-CO units, one obtained the anion [Rh@Bi9(RhCO)5]3- (2) in which two different Binn- units (n = 2, 3) and two weakly bonded Bi atoms were stabilized by five +Rh-CO units. The structures and bonding of the novel heterometallic cluster anions 1 and 2 were discussed.
ABSTRACT
BACKGROUND: Acute coronary syndrome (ACS) is the most serious type of coronary heart disease and is a global medical burden. The pathogenesis of ACS is very complex and still poorly understood. Epidemiologic studies have revealed that the manifestation of ACS are the results of the interactions between multiple environmental and genetic factors. The present study aimed to investigate the role of polymorphisms of MTHFR C677T and ALDH2 Glu504Lys as risk factors for ACS in a Hakka population in southern China. METHODS: Between September 1, 2015 and October 31, 2017, a total of 1957 individuals, including 860 ACS patients and 1097 controls were recruited. Blood samples were collected and genotypes were determined by DNA microarray chip method and direct sequencing method. RESULTS: For the MTHFR C677T polymorphism, frequencies of CC, CT, and TT genotypes were 53.60% versus 55.33, 39.53% versus 38.65 and 6.86% versus 6.02% in patients with ACS versus controls, respectively(p > 0.05). The differences in genotype frequencies between the ACS patients and controls in the three genetic model were not statistically significant. For the ALDH2 Glu504Lys polymorphism, the frequencies of ALDH2*1*1, ALDH2*1*2, and ALDH2*2*2 genotypes were 48.72, 42.67 and 8.6% in the ACS patients, respectively, while these were 53.33, 39.11 and 7.57% in the controls, respectively, showing no significant difference in the distribution of the ALDH2 genotype between the groups. Using the wild genotype ALDH2*1*1 as reference, relative risk analysis revealed a slightly increased risk for ACS in individuals with the ALDH2*1*2 plus ALDH2*2*2 genotypes (odds ratio (OR) = 1.203, 95% confidence interval (CI) = 1.006-1.438, p = 0.043). In a multivariate logistic regression model, even after adjusting for potential covariates, the association between ALDH2 *2 allele and ACS remained significant (OR = 1.242, 95% CI = 1.045-1.561, p = 0.038). CONCLUSIONS: We present findings regarding the possible clinical impact of the ALDH2*2 variant on ACS patients in a Hakka population in southern China and our findings might help to stratify the high-risk ACS patients and implement appropriate strategies for this genetic subpopulation to ultimately guide the precision preventive procedures in the future.
Subject(s)
Acute Coronary Syndrome/genetics , Aldehyde Dehydrogenase, Mitochondrial/genetics , Asian People/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Single Nucleotide , Acute Coronary Syndrome/diagnostic imaging , Acute Coronary Syndrome/ethnology , Aged , China/epidemiology , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Phenotype , Retrospective Studies , Risk FactorsABSTRACT
Genetic factors play an important role in determining the susceptibility to ischemic stroke. Herein, we examined the association of an aldehyde dehydrogenase 2 (ALDH2) gene polymorphism with cerebral infarction. Patients with cerebral infarction (n = 963) and healthy controls (n = 921) were included. Genotyping was performed using gene chip platform analysis, and Sanger sequencing was used to confirm ALDH2 genotypes. The risk prediction of ALDH2 polymorphisms for cerebral infarction was examined under three genetic modes of inheritance. For males, ALDH2*2/*2 genotype was a significant risk factor for cerebral infarction in the co-dominant model (age-, smoking-, and drinking-adjusted OR 1.514, 95% CI 1.005-2.282, p = 0.047) and the recessive model (age-, smoking-, and drinking-adjusted OR 1.601, 95% CI 1.078-2.379, p = 0.020). However, for females, ALDH2*2/*2 genotype was a protective factor for cerebral infarction in the co-dominant model (age-, smoking-, and drinking-adjusted OR 0.450 95% CI 0.215-0.941, p = 0.034) and the recessive model (age-, smoking-, and drinking-adjusted OR 0.440, 95% CI 0.214-0.903, p = 0.025). Further, logistic regression analysis revealed that age, smoking, hypertension, hyperlipidemia, and hypercholesterolemia were significant risks for the presence of cerebral infarction. In conclusion, these findings support an association of ALDH2 gene polymorphisms with ischemic stroke in a Chinese Hakka population. In particular, homozygote ALDH2*2/*2 may be a risk factor for cerebral infarction in males, but contribute to reduced risk for cerebral infarction in females.
Subject(s)
Aldehyde Dehydrogenase, Mitochondrial/genetics , Cerebral Infarction/genetics , Adult , Aged , Aged, 80 and over , Case-Control Studies , Cerebral Infarction/epidemiology , China , Female , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Polymorphism, Genetic , Retrospective StudiesABSTRACT
The aim of this study is to clarify the possible association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and pre-eclampsia in Hakka pregnant women in southern China. Pre-eclampsia and normal pregnant women were consecutively collected and MTHFR C677T genotypes were determined by the DNA sequencing method. One hundred and thirteen pre-eclampsia patients were CC homozygote (113 of 191, 59.2%), 68 of 191 (35.6%) were CT heterozygote, and 10 of 191 (5.2%) were TT homozygote, with the frequency of the T allele equal to 0.77. This is in comparison with the normal control group where 106 of 202 (52.5%) were CC homozygote, 83 of 202 (41.1%) were CT heterozygote, and 13 of 202 (6.4%) were TT homozygote, with the frequency of the T allele equal to 0.27. No statistically significant differences were observed in genotype or allele frequencies between the pre-eclampsia and normal control for the C677T polymorphism of MTHFR gene (p > .05). The findings of this study suggest that polymorphisms of MTHFR C677T genes were not associated with pre-eclampsia in Hakka pregnant women from southern China, but additional studies are necessary to explore the mechanisms involving it.
Subject(s)
Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Pre-Eclampsia/ethnology , Pre-Eclampsia/genetics , Adult , Case-Control Studies , China/epidemiology , Ethnicity/genetics , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease/ethnology , Genotype , Humans , Polymorphism, Single Nucleotide , Pregnancy , Risk Factors , Young AdultABSTRACT
OBJECTIVE: To study the effect of PR-957 on the formation of A1 reactive astrocytes. METHODS: The cerebral cortices of 1-day-old female rats were obtained and cultured for primary astrocytes. These cells were divided into 3 groups: control, lipopolysaccharide (LPS), and LPS+PR-957. The LPS group was treated with LPS (at a concentration of 5 µmol/L) for 48 hours; the LPS+PR-957 group was treated with PR-957 (at a final concentration of 200 nmol/L) for 1 hour and then LPS for 48 hours. Enzyme-linked immunosorbent assay was used to determine the expression of complement 3 (C3, a marker for A1 reactive astrocytes) and tumor necrosis factor alpha (TNF-α). Quantitative real-time PCR was used to determine the relative mRNA expression of glypican-6 (GPC6), SPARC-like 1 (SPARCL1), and lipocalin-2 (LCN2). All the above experiments were repeated three times independently. RESULTS: C3 expression was almost not observed in the control group, but was observed in both the LPS group and the LPS+PR-957 group, with significantly lower expression observed in the LPS+PR-957 group (P<0.05). The expression of TNF-α was consistent with that of C3. Compared with the control group, the LPS and the PS+PR-957 groups had significantly reduced mRNA expression levels of GPC6 and SPARCL1 but significantly increased mRNA expression level of LCN2 (P<0.001). Compared with the LPS group, the LPS+PR-957 group had significantly increased mRNA expression levels of GPC6 and SPARCL1 but significantly reduced mRNA expression level of LCN2 (P<0.001). CONCLUSIONS: LPS can induce the transformation from astrocytes to A1 reactive astrocytes, and PR-957 can inhibit the formation of LPS-induced A1 reactive astrocytes.
Subject(s)
Astrocytes , Animals , Female , Lipopolysaccharides , Oligopeptides , Rats , Tumor Necrosis Factor-alphaABSTRACT
In multicellular organisms, receptor tyrosine kinases (RTKs) control a variety of cellular processes, including cell proliferation, differentiation, migration, and survival. Sprouty (SPRY) proteins represent an important class of ligand-inducible inhibitors of RTK-dependent signaling pathways. Here, we investigated the role of SPRY1 in cells of the central nervous system (CNS). Expression of SPRY1 was substantially higher in neural stem cells than in cortical neurons and was increased during neuronal differentiation of cortical neurons. We found that SPRY1 was a direct target gene of the CNS-specific microRNA, miR-124 and miR-132. In primary cultures of cortical neurons, the neurotrophic factors brain-derived neurotrophic factor (BDNF) and Basic fibroblast growth factor (FGF2) downregulated SPRY1 expression to positively regulate their own functions. In immature cortical neurons and mouse N2 A cells, we found that overexpression of SPRY1 inhibited neurite development, whereas knockdown of SPRY1 expression promoted neurite development. In mature neurons, overexpression of SPRY1 inhibited the prosurvival effects of both BDNF and FGF2 on glutamate-mediated neuronal cell death. SPRY1 was also upregulated upon glutamate treatment in mature neurons and partially contributed to the cytotoxic effect of glutamate. Together, our results indicate that SPRY1 contributes to the regulation of CNS functions by influencing both neuronal differentiation under normal physiological processes and neuronal survival under pathological conditions.
Subject(s)
Adaptor Proteins, Signal Transducing/metabolism , Cell Survival/physiology , Membrane Proteins/metabolism , MicroRNAs/genetics , Neurons/cytology , Animals , Apoptosis/physiology , Cell Differentiation/genetics , Cell Proliferation/physiology , Cells, Cultured , Mice, Inbred C57BL , MicroRNAs/metabolism , Phosphoproteins/metabolismABSTRACT
Hearing loss is a common neurosensory disorder, approximately half of the cases are caused by genetic factors, and approximately 70% of hereditary hearing impairments are nonsyndromic hearing loss (NSHL). The mutations of GJB2 (gap junction beta-2 protein), GJB3 (gap junction beta-3 protein), SLC26A4 (solute carrier family 26 member 4), and MT-RNR1 (mitochondrially encoded 12S RNA) are the most common inherited causes of NSHL. Because of different genetic backgrounds, the mutation spectrum of these common deafness-causing genes varies among different regions in China. Because no data are known on these mutations among the Hakka population of Southern China, we aim to investigate the mutation spectrum to add these to neonatal screening and genetic counseling. A total of 1252 blood samples from newborns have been detected by semiconductor sequencing for 100 mutations loci of 18 deafness-causing genes. Of the participants, 95 subjects carried deafness-causing genes mutations with the carrier rate of 7.59%. The mutation frequencies of GJB2, SLC26A4, GJB3, and mitochondrial genes were 3.04%, 3.51%, 0.16%, and 0.88%, respectively. We followed up subjects with single-gene homozygous or compound heterozygous mutations. Our study firstly analyzed deafness-causing genes mutation spectrum in Hakka population, providing evidence for future neonatal screening and genetic counseling in this area.
Subject(s)
Connexins/genetics , Deafness/genetics , Ethnicity/genetics , Membrane Transport Proteins/genetics , Asian People/genetics , China/epidemiology , Connexin 26 , DNA, Mitochondrial , Female , Humans , Infant, Newborn , Male , Mutation , Neonatal Screening , Retrospective Studies , Sulfate TransportersABSTRACT
BACKGROUND: The naked mole-rat (NMR, Heterocephalus glaber) is being bred as a novel laboratory animal due to its unique biological characteristics, including longevity, cancer resistance, hypoxia tolerance, and pain insensitivity. It is expected that differences exist between the microbiota of wild NMRs and that of NMRs in an artificial environment. Overall, the effect of environment on changes in the NMR microbiota remains unknown. In an attempt to understand the microbiota composition of NMRs in captivity, variability in the microbiota of the intestinal and respiratory tracts of two groups of NMRs was assessed under two conditions. RESULTS: The results obtained by high-throughput sequencing revealed significant differences at the phylum, class, order, family and genus levels in the microbiota between the two groups of NMRs examined (first group in conventional environment, second group in barrier environment). For the trachea, 24 phyla and 533 genera and 26 phyla and 733 genera were identified for the first and second groups of animals. Regarding the cecum, 23 phyla and 385 genera and 25 phyla and 110 genera were identified in the microbiota of first and second groups of animals. There were no obvious differences between females and males or young and adult animals. CONCLUSIONS: Our results suggest that the intestinal and respiratory tract NMR microbiota changed during captivity, which may be related to the transition to the breeding environment. Such changes in the microbiota of NMRs may have an effect on the original characteristics, which may be the direction of further research studies.
Subject(s)
Bacteria/classification , High-Throughput Nucleotide Sequencing/methods , Intestines/microbiology , Microbiota , Mole Rats/microbiology , Phylogeny , Respiratory System/microbiology , Age Factors , Animals , Bacteria/genetics , Bacteria/isolation & purification , Biodiversity , Cecum/microbiology , Disease Models, Animal , Female , Male , Sex Factors , Trachea/microbiologyABSTRACT
BACKGROUND: Human papillomavirus (HPV) DNA testing is an important method in cervical cancer screening. However, the studies on prevalence and genotype distribution of HPV among women in northeastern Guangdong Province of China are very limited. METHODS: A total of 28,730 women attending the Department of Gynecology of Meizhou People's Hospital (Huangtang Hospital), Meizhou Hospital Affiliated to Sun Yat-sen University between January 1st, 2013 and June 1st, 2015 were enrolled in this study. HPV type-specific distribution was tested using flow-through hybridization and gene chip. RESULTS: The overall prevalence of HPV infection was 19.81%, among which 79.09% were infected with high-risk HPV subtypes in the subjects. The 5 most predominant genotypes were HPV16, 52, 58, 18 and 81. Most HPV infections were observed in women aged 41-50 and women aged 30-59 accounted for a proportion of over 80%. CONCLUSIONS: Our findings suggested a high burden of HPV infection among women in northeastern Guangdong Province of China. We identified the top 5 HPV genotypes as well as the age-specific distribution of HPV infections in this area.
Subject(s)
Alphapapillomavirus/genetics , Papillomavirus Infections/epidemiology , Adolescent , Adult , Aged , Aged, 80 and over , China/epidemiology , Female , Genotype , Humans , Mass Screening , Middle Aged , Oligonucleotide Array Sequence Analysis , Papillomavirus Infections/virology , Prevalence , Uterine Cervical Neoplasms/diagnosis , Uterine Cervical Neoplasms/virologyABSTRACT
Polycomb group (PcG) proteins regulate the epigenetic status of transcription regulatory states during development. Progression from pluripotency to differentiation requires the sequential activation and repression of different PcG target genes, however, the relationship between early patterning signals, PcG expression, and the development of the central nervous system is still unclear. Using various models of neuronal differentiation, we provide evidence that CBX2 is a negative regulator of neuronal differentiation. Knock-down of CBX2 expression promotes neurite development, while overexpression of CBX2 inhibits neurite development. Further, we found that CBX2 is a direct target gene of miR-124. During neuronal differentiation, CBX2 was decreased while miR-124 was increased. Mechanistically, CBX2 directly interacts with the promoter region of several neuro-associated genes and regulates their expression. We found that the neuron-specific GAP-43 gene could contribute to the stimulating effect on neurite development associated with inhibition of CBX2.
ABSTRACT
The development of stimuli-responsive drug carrier systems enabling to deliver high doses of anti-cancer drugs to tumor tissues is still urgently needed. In this study, we report the preparation of reduction-responsive methoxypolyethylene glycol-block-(poly(l-lysine)-co-poly(l-tyrosine)) (mPEG-b-(PLL-co-PLY)) nanoparticles (NPs) exhibiting sizes smaller than 100â¯nm and high drug loading content (DLC) of doxorubicin (DOX) by selecting the Lys and Tyr residues as the polypeptide building blocks. The disulfide-cross-linked mPEG-b-(PLL-co-PLY) assemblies with sizes can be tuned by varying the polypeptide composition followed by subsequent disulfide-cross-linking. Cytotoxicity assays showed that the Dox-loaded NPs exhibited efficient cell internalization and proliferation inhibition toward cancer cells, whereas the copolymers exhibited low hemolysis to human red blood cells and excellent biocompatibility to both normal and cancer cells. The enhanced internalization and cytotoxicity of DOX-NPs can be possible due to their small size and their reduction-responsive property. Anticancer studies using C57BL/6 mice bearing LLC tumor model showed that the DOX-loaded NPs significantly suppressed tumor growth and prolonged the survival of tumor-bearing mice without obvious body weight loss and damage to major organs. This approach provides a platform for developing stimuli-responsive, polypeptide-based drug delivery systems with high DLC for cancer treatment.