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OBJECTIVE: This study investigated the correlation between thyroid function and urinary iodine/creatinine ratio (UI/Cr) in pregnant women during different trimesters and explored potential influencing factors. METHODS: In this cross-sectional study, serum levels of thyroid-stimulating hormone (TSH), free triiodothyronine (FT3), free thyroxine (FT4), and UI/Cr were measured in 450 pregnant women. Correlations were analyzed using Pearson's correlation coefficient and multiple linear regression. Subgroup analyses were performed based on age, body mass index (BMI), parity, gestational age, education, occupation, and family history of thyroid disorders. RESULTS: UI/Cr was positively correlated with FT4 levels in the first and second trimesters, particularly in women with older age, higher BMI, multiparity, higher education, and employment. No significant correlations were found between UI/Cr and TSH or FT3 levels. CONCLUSION: UI/Cr is positively correlated with FT4 levels in early pregnancy, especially in women with certain risk factors. Regular monitoring of iodine status and thyroid function is recommended for pregnant women to ensure optimal maternal and fetal health.
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Creatinina , Iodo , Trimestres da Gravidez , Centros de Atenção Terciária , Testes de Função Tireóidea , Humanos , Feminino , Gravidez , Iodo/urina , Estudos Transversais , Adulto , Creatinina/urina , Creatinina/sangue , Trimestres da Gravidez/urina , China/epidemiologia , Glândula Tireoide/fisiologia , Adulto Jovem , Doenças da Glândula Tireoide/epidemiologia , Doenças da Glândula Tireoide/urina , Doenças da Glândula Tireoide/diagnóstico , Doenças da Glândula Tireoide/sangue , Tireotropina/sangue , Biomarcadores/urina , Biomarcadores/sangue , Tiroxina/sangue , Pequim/epidemiologia , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/urinaRESUMO
OBJECTIVES: The objectives of this study were to analyze the relationship between serum globulin levels and immune restoration and HIV reservoir size during long-term antiretroviral therapy (ART). METHODS: We enrolled 13 patients living with HIV who had been receiving ART for 5 years. We measured levels of serum globulin, cell-associated (CA) HIV DNA and RNA, and p24 antibody at 0, 1, 3, and 5 years of ART. CD38 and human leukocyte antigen - DR isotype (HLA-DR) were used as activation markers for T-cell activation. Serum concentrations of the inflammatory cytokines interferon gamma-inducible protein (IP)-10 and soluble CD163 (sCD163) were detected by enzyme-linked immunosorbent assay. We analyzed the relationship between serum globulin levels, HIV reservoir size, immune restoration, T-cell immune activation, and inflammatory levels during long-term ART. RESULTS: Our data showed that serum globulin levels in people living with HIV were higher than in healthy controls and significantly decreased during the first year of ART. Serum globulin levels during long-term ART were positively correlated with CA HIV DNA, CA HIV RNA, p24 antibody levels, and CD8+ T-cell counts and negatively correlated with CD4+ T-cell counts and CD4/CD8 ratios. Moreover, serum globulin levels were positively correlated with CD4+ and CD8+ T-cell activation and the concentrations of inflammatory biomarkers IP-10 and sCD163 during long-term ART. CONCLUSIONS: Our findings suggest that serum globulin levels may be associated with HIV reservoir size and immune restoration during long-term ART.
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Infecções por HIV , Reconstituição Imune , Humanos , Linfócitos T CD4-Positivos , Linfócitos T CD8-Positivos , RNA , Carga Viral , Ativação LinfocitáriaRESUMO
Zinc finger protein 671 (ZNF671) has been described as a vital cancer inhibitor in multiple neoplasms, yet the functional roles of ZNF671 in colorectal carcinoma (CRC) remain unresolved. This project examined the possible link between ZNF671 and CRC. Lower levels of ZNF671 were observed in CRC tissue compared with noncancerous tissue, which were related to a worse survival rate in CRC patients. High methylation levels at the ZNF671 gene promoter region were shown in CRC tissue, which were inversely correlated with ZNF671 expression. Treatment with demethylation agents restored ZNF671 levels in CRC cell lines. Up-regulation of ZNF671 resulted in suppressive effects on the proliferative ability and metastatic potency of CRC cells. Moreover, the up-regulation of ZNF671 reinforced the chemosensitivity of CRC cells. A mechanism study determined ZNF671 to be a vital mediator of Notch signaling. The up-regulation of ZNF671 decreased the expression of Notch1 and lowered the levels of NICD, HES1, and HEY1. The overexpression of NICD1 diminished ZNF671-mediated antitumor effects. ZNF671 depletion reinforced Notch signaling, and Notch suppression reversed ZNF671-depletion-elicited protumor effects. Moreover, the overexpression of ZNF671 weakened the tumorigenicity of CRC cells in a xenograft model in vivo. In summary, ZNF671 exerts a cancer-inhibiting function in CRC via the deactivation of Notch signaling. Low ZNF671 levels caused by gene promoter hypermethylation contribute to the malignant transformation of CRC. This work underlines the interest of ZNF671 as a target candidate for exploiting novel anti-CRC therapies.
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Neoplasias Colorretais , Humanos , Neoplasias Colorretais/tratamento farmacológico , Neoplasias Colorretais/genética , Neoplasias Colorretais/metabolismo , Metilação de DNA , Transdução de Sinais , Dedos de Zinco , Regulação Neoplásica da Expressão Gênica , Linhagem Celular Tumoral , Proteínas Supressoras de Tumor/metabolismoRESUMO
BACKGROUND: Antiretroviral therapy (ART) can reduce viral load in individuals infected with human immunodeficiency virus (HIV); however, some HIV-infected individuals still cannot achieve optimal immune recovery even after ART. Hence, we described the profile of peripheral immune cells and explored the association with disease progression in patients infected with HIV-1. METHODS: Mass cytometry analysis was used to characterize the circulating immune cells of 20 treatment-naïve (TNs), 20 immunological non-responders (INRs), 20 immunological responders (IRs), and 10 healthy controls (HCs). Correlation analysis was conducted between cell subpopulation percentages and indicators including HIV-1 cell-associated (CA)-RNA, DNA, CD4+ T cell count, and CD4/CD8 ratio. RESULTS: Global activation, immunosenescence, and exhaustion phenotypes were observed in myeloid cells and T cells from individuals with HIV-1 infection. We also found that specific subsets or clusters of myeloid, CD4+ T, and CD8+ T cells were significantly lost or increased in TN individuals, which could be partially restored after receiving ART. The percentages of several subpopulations correlated with HIV-1 CA-RNA, DNA, CD4+ T cell count, and CD4/CD8 ratio, suggesting that changes in immune cell composition were associated with therapeutic efficacy. CONCLUSION: These data provide a complete profile of immune cell subpopulations or clusters that are associated with disease progression during chronic HIV-1 infection, which will improve understanding regarding the mechanism of incomplete immune recovery in INRs.
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Infecções por HIV , HIV-1 , Humanos , Linfócitos T CD8-Positivos , RNA , Progressão da Doença , DNA , Linfócitos T CD4-Positivos , Carga Viral , Contagem de Linfócito CD4RESUMO
BACKGROUND: A large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ancestry. In contrast, we know relatively little regarding the genetics of ALS in other ethnic populations. This study aims to provide a comprehensive analysis of the genetics of ALS in an unprecedented large cohort of Chinese mainland population and correlate with the clinical features of rare variants carriers. METHODS: A total of 1587 patients, including 64 familial ALS (FALS) and 1523 sporadic ALS (SALS), and 1866 in-house controls were analysed by whole-exome sequencing and/or testing for G4C2 repeats in C9orf72. Forty-one ALS-associated genes were analysed. FINDINGS: 155 patients, including 26 (40.6%) FALS and 129 (8.5%) SALS, carrying rare pathogenic/likely pathogenic (P/LP) variants of ALS causative genes were identified. SOD1 was the most common mutated gene, followed by C9orf72, FUS, NEK1, TARDBP and TBK1. By burden analysis, rare variants in SOD1, FUS and TARDBP contributed to the collective risk for ALS (p<2.5e-6) at the gene level, but at the allelic level TARDBP p.Gly294Val and FUS p.Arg521Cys and p.Arg521His were the most important single variants causing ALS. Clinically, P/LP variants in TARDBP and C9orf72 were associated with poor prognosis, in FUS linked with younger age of onset, and C9orf72 repeats tended to affect cognition. CONCLUSIONS: Our data provide essential information for understanding the genetic and clinical features of ALS in China and for optimal design of genetic testing and evaluation of disease prognosis.
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Esclerose Lateral Amiotrófica , Esclerose Lateral Amiotrófica/epidemiologia , Esclerose Lateral Amiotrófica/genética , Proteína C9orf72/genética , Estudos de Coortes , Predisposição Genética para Doença , Humanos , Mutação/genética , Superóxido Dismutase-1/genéticaRESUMO
INTRODUCTION: To investigate the characteristics of ß7high CD4+ T cells during HIV-1 infection and the relationship between ß7high CD4+ T cells and HIV-1 disease progress. METHODS: This study enrolled 124 HIV-1-infected patients, including 80 treatment naïve patients (TNs), 41 patients who underwent antiretroviral therapy (ARTs), and three long-term no progression patients (LTNPs). Nineteen matched healthy subjects were included as controls (HCs). The characteristics and frequency of ß7high CD4+ T cells were analyzed using flow cytometry. An in vitro culture experiment was used to study HIV-1 infection of ß7high CD4+ T cells. Real-time polymerase chain reaction was performed to quantify HIV-1 DNA and CA-RNA levels. RESULTS: The frequency of ß7high CD4+ T in the peripheral blood was significantly decreased and negatively correlated with disease progression during chronic HIV-1 infection. A large proportion of ß7high CD4+ T cells showed Th17 phenotype. Furthermore, ß7high CD4+ T cells were preferentially infected by HIV-1 in vitro and in vivo. There were no significant differences of HIV-1 DNA, and CA-RNA levels between ß7high CD4+ T and ß7low CD4+ T subsets in HIV-1 infected individuals after antiviral treatment. CONCLUSION: The ß7high CD4+ T cells were negatively correlated with disease progression during chronic HIV-1 infection. ß7high CD4+ T cells are susceptible to infection with HIV-1 and HIV-1 latent cells.
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Infecções por HIV , Soropositividade para HIV , HIV-1 , Linfócitos T CD4-Positivos , Progressão da Doença , Infecções por HIV/tratamento farmacológico , Humanos , RNARESUMO
BACKGROUND: The disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms remain elusive. In a previous study, we identified a new 140bp exon from the intron 9 of human FMR1 gene. In this study, we further examined the biological functions of this new exon and its underlying signaling pathways. RESULTS: qRT-PCR results showed that this novel exon is commonly expressed in the peripheral blood of normal individuals. Comparative genomics showed that sequences paralogous to the 140 bp sequence only exist in the genomes of primates. To explore the biological functions of the new transcript, we constructed recombinant eukaryotic expression vectors and lentiviral overexpression vectors. Results showed that the spliced transcript encoded a truncated protein which was expressed mainly in the cell nucleus. Additionally, several genes, including the BEX1 gene involved in mGluR-LTP or mGluR-LTD signaling pathways were significantly influenced when the truncated FMRP was overexpressed. CONCLUSIONS: our work identified a new exon from amid intron 9 of human FMR1 gene with wide expression in normal healthy individuals, which emphasizes the notion that the AS of FMR1 gene is complex and may in a large part account for the multiple functions of FMRP.
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Processamento Alternativo , Éxons , Proteína do X Frágil da Deficiência Intelectual/genética , Células HEK293 , Humanos , ÍntronsRESUMO
BACKGROUND Cell cycle arrest and autophagy have been demonstrated to be involved in various transforming growth factor (TGF)-ß-mediated phenotype alterations of tubular epithelial cells (TECs) and tubulointerstitial fibrosis. But the relationship between cell cycle arrest and the autophagy induced by TGF-ß has not been explored well. MATERIAL AND METHODS The effects of autophagy inhibition on TGF-ß-induced cell cycle arrest in TECs were explored in vitro. Human kidney-2 (HK-2) cells were stimulated by TGF-ß with or without a combined treatment of autophagy inhibitor chloroquine (CQ) or bafilomycin A1 (Baf). RESULTS Autophagy inhibition by CQ or Baf promotes the suppression of growth in TGF-ß-treated HK-2 cells, as detected by the Cell Counting Kit-8 (CCK-8) method. In addition, CQ or Baf stimulation enhances G1 arrest in TGF-ß treated HK-2 cells, as investigated using propidium iodide (PI) staining and flow cytometry, which was further confirmed by a decrease in the expression of phosphorylated retinoblastoma protein (p-RB) and cyclin-dependent kinase 4 (CDK4). The upregulation of p21 induced by CQ or Baf may mediate an enhanced G1 arrest in TGF-ß treated HK-2 cells. Western blot analysis showed that TGF-ß-induced expression of extracellular matrix fibronectin was notably upregulated in the presence of autophagy inhibitors. CONCLUSIONS Inhibition of autophagy sensitizes the TECs to G1 arrest and proliferation suppression induced by TGF-ß that contributes to the induction of tubulointerstitial fibrosis.
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Autofagia/efeitos dos fármacos , Cloroquina/farmacologia , Inibidores Enzimáticos/farmacologia , Células Epiteliais/efeitos dos fármacos , Pontos de Checagem da Fase G1 do Ciclo Celular/efeitos dos fármacos , Macrolídeos/farmacologia , Insuficiência Renal Crônica/patologia , Fator de Crescimento Transformador beta/farmacologia , Linhagem Celular , Proliferação de Células/efeitos dos fármacos , Quinase 4 Dependente de Ciclina/efeitos dos fármacos , Quinase 4 Dependente de Ciclina/metabolismo , Inibidor de Quinase Dependente de Ciclina p21/efeitos dos fármacos , Inibidor de Quinase Dependente de Ciclina p21/metabolismo , Fibronectinas/efeitos dos fármacos , Fibronectinas/metabolismo , Fibrose , Humanos , Técnicas In Vitro , Túbulos Renais/citologia , Insuficiência Renal Crônica/metabolismo , Proteína do Retinoblastoma/efeitos dos fármacos , Proteína do Retinoblastoma/metabolismoRESUMO
PURPOSE: Higher serum estradiol levels occur in women undergoing assisted reproductive technology (ART) owing to ovarian stimulation. Here, we investigated the association between maternal serum estradiol levels and the intellectual development of offspring conceived with ART. METHODS: A total of 204 singletons born after fresh embryo transfer were recruited for this cohort study. Among them, 102 children were born from mothers with high serum estradiol levels (> 12,000 pmol/L) on the day that human chorionic gonadotropin was administered. Another 102 children, matched by gestational age and age of the children, were recruited as controls from mothers with low serum estradiol (≤ 12,000 pmol/L). The Wechsler Preschool and Primary Scale of Intelligence was used to evaluate the intellectual development of the children. RESULTS: Children from mothers with higher serum estradiol levels scored lower in the verbal intelligence quotient (IQ) tests and verbal comprehension than children whose mothers had lower estradiol levels. The main difference between the two groups was in verbal subtests including information, vocabulary, and sorting. Partial correlation analysis revealed that the logarithm of maternal serum estradiol level negatively correlated with verbal IQ, performance IQ, and full scale IQ. CONCLUSION: Our data demonstrate that a high maternal serum estradiol level may negatively associate the verbal ability of children conceived via ART.
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Estradiol/sangue , Deficiência Intelectual/sangue , Inteligência/fisiologia , Técnicas de Reprodução Assistida/efeitos adversos , Adulto , Criança , Pré-Escolar , Gonadotropina Coriônica/administração & dosagem , Estudos de Coortes , Transferência Embrionária/efeitos adversos , Feminino , Fertilização in vitro/efeitos adversos , Humanos , Deficiência Intelectual/etiologia , Deficiência Intelectual/fisiopatologia , Testes de Inteligência , Masculino , Injeções de Esperma Intracitoplásmicas/efeitos adversosRESUMO
Bimetal-S-O composites have been rarely researched in electrochemical reduction of CO2 . Now, an amorphous Ag-Bi-S-O decorated Bi0 catalyst derived from Ag0.95 BiS0.75 O3.1 nanorods by electrochemical pre-treatment was used for catalyzing eCO2 RR, which exhibited a formate FE of 94.3 % with a formate partial current density of 12.52â mA cm-2 at an overpotential of only 450â mV. This superior performance was attributed to the attached amorphous Ag-Bi-S-O substance. S could be retained in the amorphous region after electrochemical pre-treatment only in samples derived from metal-S-O composites, and it would greatly enhance the formate selectivity by accelerating the dissociation of H2 O. The existence of Ag would increase the current density, resulting in a higher local pH, which made the role of S in activating H2 O more significantly and suppressed H2 evolution more effectively, thus endowing the catalyst with a higher formate FE at low overpotentials.
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OBJECTIVE: The aim of this meta-analysis is to explore the beneficial role of granulocyte colony-stimulating factor (G-CSF) on infertile women under artificial reproduction technology treatment. METHOD: Medline, Embase and ISI Web of Science databases were searched to identify relevant randomized control trials. Studies before July, 2017 were included for primary screening. Meta-analysis of the total and subgroup patients was conducted, and relative risks (RRs) and their 95% confidence intervals (95% CI) were calculated by a fixed-effect model if no heterogeneity (evaluated as I2 statistic) existed. Otherwise, a random-effects model was adopted. Subgroup analysis was performed by administrating route or clinical indication. Egger test and influence analysis were conducted to evaluate the publication bias and study power, respectively. RESULTS: The final selection enrolled 10 RCTs, involving 1016 IVF-ET cycles (521 distributed to the G-CSF group and 495 to the control). Compared with control group, G-CSF administration could significantly improve clinical pregnancy rate (CPR, RR 1.89, 95% CI 1.53-2.33), while it had no beneficial effect on embryo implantation rate (IR, RR 1.84, 95% CI 0.84-4.03). The subgroup analysis by administration route showed that both uterine infusion and subcutaneous injection can produce a substantial increase in CPR, with the pooled RRs (95% CI) 1.46 (1.04-2.05) and 2.23 (1.68-2.95), respectively. Nevertheless, most of included RCTs dealt with the RIF subjects, and the pooled analysis of this data showed a higher PR and IR in G-CSF group as compared to that in the control, with the RRs (95% CI) 2.07 (1.64-2.61) and 1.52 (1.08-2.14), respectively. Egger regression test did not demonstrate any significance for the publication bias. CONCLUSION: G-CSF administration has a beneficial role on the clinical outcome after embryo transfer by both routes of local infusion and systematic administration, especially for the cases with RIF. Further RCTs are needed to investigate the role of G-CSF in thin endometrium patients.
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Transferência Embrionária/métodos , Fertilização in vitro/métodos , Fator Estimulador de Colônias de Granulócitos/uso terapêutico , Infertilidade Feminina/tratamento farmacológico , Adulto , Feminino , Fator Estimulador de Colônias de Granulócitos/farmacologia , Humanos , Infertilidade Feminina/patologia , GravidezRESUMO
Infrasound widely exists in nature, our living condition, productive and traffic environment. Gastrointestinal tract is relatively sensitive to infrasound. However, the effect of infrasound on gastrointestinal function is unclear. Therefore, the purpose of our study was to observe the effects of infrasound on gastric motility and gastric morphology and to assess the expression of nitric oxide synthase (NOS) in gastric antrum after exposure to infrasound of 8 Hz - 130 dB for 2 hours per day for 14 consecutive days. Gastric motility was assessed by gastric fluid-emptying rate. Gastric morphology was evaluated by HE. The expression of NOS was measured by tissue microarray technology. The results would contribute to understand the role of infrasound in gastroenterology, and help to explain the mechanism of infrasound on gastroenterology.
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Motilidade Gastrointestinal , Óxido Nítrico Sintase/metabolismo , Som/efeitos adversos , Estômago , Animais , Regulação Enzimológica da Expressão Gênica , Masculino , RatosRESUMO
This study aimed to learn the recurrence rate in the retreatment TB patients with sputum smear and/or culture positive (ss+ and/or c+) two years after they were declared cured, and to explore causes of recurrence in order to improve long-time treatment outcome. 5 cities were selected as research locations. Recurrence of TB was judged by chest X-ray examination together with sputum smear and culture examination. Questionnaire was carried out to collect data on treatment history, demographics and possible risk factors. Chi-square test and logistic regression were conducted using SPSS in this study. As the result, 99 active TB patients were identified and the recurrence rate was 16.67% and irregular medicine and smoking were the causes of the recurrence. The retreatment TB patients with sputum smear and/or culture positive in this study had higher recurrence rate and health education work on regular medication and smoking should be strengthened.
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Antituberculosos/uso terapêutico , Escarro/microbiologia , Tuberculose Pulmonar/tratamento farmacológico , Adulto , Idoso , Idoso de 80 Anos ou mais , China/epidemiologia , Feminino , Seguimentos , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Recidiva , Fatores de Risco , Tuberculose Pulmonar/epidemiologia , Tuberculose Pulmonar/microbiologiaRESUMO
BACKGROUND: Glucose-insulin-potassium (GIK) has been advocated in the setting of acute coronary syndrome (ACS) to reduce ischemia-related arrhythmias and myocardial injury. We conducted a meta-analysis of randomized controlled trials (RCTs) to assess whether the use of GIK infusions >3 or <3 hours after the onset of symptoms reduce mortality or cardiac arrest. METHODS: Electronic databases (Medline, EMBASE, and Cochrane Central Register of Controlled Trials) and references of retrieved articles were searched for RCTs evaluating the effect of GIK infusions, <3 hours or >3 hours after the onset of symptoms, on mortality and/or cardiac arrest. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated for each outcome. RESULTS: Nine trials were identified and eligible for review. The summary OR for in-hospital mortality was 1.01 (95% CI 0.94 to 1.09), based on 2,542 deaths among 27,294 patients. The subgroup analysis according to the study enrollment time (within 3 hours [OR, 0.77, 95% CI 0.50-1.16], vs. >3 hours [OR, 0.90; 95% CI, 0.67-1.21]) did not reveal any difference in mortality. CONCLUSIONS: Administration of GIK in ACS patients does not significantly reduce mortality whether or not GIK administration >3 or <3 hours after the onset of symptoms.
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Síndrome Coronariana Aguda/tratamento farmacológico , Soluções Cardioplégicas/administração & dosagem , Parada Cardíaca/prevenção & controle , Ensaios Clínicos Controlados Aleatórios como Assunto , Síndrome Coronariana Aguda/complicações , Síndrome Coronariana Aguda/mortalidade , Soluções Cardioplégicas/efeitos adversos , Distribuição de Qui-Quadrado , Esquema de Medicação , Glucose/administração & dosagem , Glucose/efeitos adversos , Parada Cardíaca/etiologia , Parada Cardíaca/mortalidade , Mortalidade Hospitalar , Humanos , Infusões Parenterais , Insulina/administração & dosagem , Insulina/efeitos adversos , Razão de Chances , Potássio/administração & dosagem , Potássio/efeitos adversos , Fatores de Risco , Fatores de Tempo , Tempo para o Tratamento , Resultado do TratamentoRESUMO
BACKGROUND: Recent studies have revealed the link between immune activation and neurodegenerative diseases. METHODS: By employing meta-analysis, we estimated the standardized mean difference (SMD) and their corresponding 95% confidence intervals (CIs) between the groups. RESULTS: According to the pre-set criteria, a total of 21 published articles including 2377 ALS patients and 1244 HCs, as well as 60 articles including 5111 PD patients and 4237 HCs, were identified. This study provided evidence of peripheral immune activation in the pathogenesis of ALS and PD. CONCLUSION: Our results suggested monitoring changes in peripheral blood immune cell populations, particularly lymphocyte subsets, will benefit understanding the developments and exploring reliable and specific biomarkers of these two diseases.
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Esclerose Lateral Amiotrófica , Doenças Neurodegenerativas , Doença de Parkinson , Humanos , Esclerose Lateral Amiotrófica/imunologia , Biomarcadores , Doenças Neurodegenerativas/imunologia , Doença de Parkinson/imunologiaRESUMO
PURPOSE: The association between clinical features and polysomnographic variables of Chinese patients with multiple-system atrophy (MSA) remains largely unknown. METHODS: This study assessed 30 patients with MSA from Southwest China using the Unified Multiple-System Atrophy Rating Scale (UMSARS). Each patient also underwent video-polysomnography. Twenty age and gender matched healthy volunteers were performed video-polysomnography as control group. RESULTS: Of the 30 patients, 23 (76.7 %) were classified as having MSA-C and seven (23.3 %) were diagnosed with MSA-P. The mean age of the patients at disease onset was 53.2 ± 8.5 years, and the mean duration of their disease was 3.6 ± 2.8 years. Twenty-one patients complained of sleep disorders. The mean scores of UMSARS-I, UMSARS-II, and UMSARS-IV of patients with MSA-P were significantly higher than those of patients with MSA-C. Polysomnography revealed that 29 patients had sleep architecture alteration. A longer duration of stage N1 sleep, a shorter REM sleep, as well as decreased sleep efficiency and total sleep time (TST) were detected. Twenty-one patients had obstructive sleep apnea. Patients with MSA-C demonstrated longer sleep onset latencies compared with patients with MSA-P. TST was negatively correlated with MSA duration, whereas sleep latency was positively correlated with MSA duration. Moreover, TST, and mean SaO2 were negatively correlated with motor disability. CONCLUSIONS: Various sleep disorders are common in Chinese MSA patients. Sleep architecture and sleep-associated breathing disorders are predominant polysomnographic findings. Sleep quantity was reduced with disease progression.
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Atrofia de Múltiplos Sistemas/diagnóstico , Atrofia de Múltiplos Sistemas/epidemiologia , Polissonografia , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/epidemiologia , Adulto , Idoso , China , Comorbidade , Estudos Transversais , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Exame NeurológicoRESUMO
OBJECTIVE: To identify the mutation in the disease gene and provide prenatal diagnosis for a hereditary multiple osteochondromas (HMO) family. METHODS: The exons of EXT1 gene in the proband with HMO and his family members were amplified by PCR. The products were analyzed by direct sequencing. Prenatal genetic diagnosis was performed by amniocentesis sampling after genotyping the proband. RESULTS: In the family, the affected proband was heterozygous of the mutation of 1476_1477delTC in the EXT1 gene, and the proband's father carried the same mutation in part of his somatic cells. No mutation was found in the EXT1 gene of the proband's mother and other 11 siblings of his father. CONCLUSION: METHODS for molecular diagnosis and prenatal diagnosis of HMO were established and applied to a family of HMO.
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Exostose Múltipla Hereditária/genética , Mutação , N-Acetilglucosaminiltransferases/genética , Diagnóstico Pré-Natal , Adulto , Sequência de Aminoácidos , DNA/genética , Éxons , Feminino , Heterozigoto , Humanos , Masculino , Dados de Sequência Molecular , LinhagemRESUMO
This letter to the editor relates to the study entitled "Non-invasive model for predicting high-risk esophageal varices based on liver and spleen stiffness". Acute bleeding caused by esophageal varices is a life-threatening complication in patients with liver cirrhosis. Due to the discomfort, contraindications, and associated complications of upper gastrointestinal endoscopy screening, it is crucial to identify an imaging-based non-invasive model for predicting high-risk esophageal varices in patients with cirrhosis.
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Studies assessing the gut mucosal immune balance in HIV-infected patients using intestinal samples are scarce. In this study, we used intestinal mucosal specimens from the ileocecal region of seven immunological nonresponders (INRs), nine immunological responders (IRs), and six HIV-negative controls. We investigated T helper 17 (Th17) and T regulatory (Treg) cell counts and their ratio, zonula occludens-1 (ZO-1), intestinal fatty acid-binding protein (I-FABP), tumor necrosis factor-α, CD4+ T cell counts, HIV DNA, and cell-associated HIV RNA. The results showed that INRs had lower Th17 and higher Treg cell counts than IR, resulting in a significant difference in the Th17/Treg ratio between IRs and INRs. In addition, INRs had lower ZO-1 and higher I-FABP levels than IRs. The Th17/Treg ratio was positively associated with ZO-1 and negatively associated with I-FABP levels. There was a positive correlation between Th17/Treg ratio and CD4+ T cell counts and a negative correlation between the Th17/Treg ratio and HIV DNA in the intestine. Our study suggests that the imbalance of Th17/Treg in the intestine is a characteristic of incomplete immune reconstitution to antiretroviral therapy and is associated with intestinal damage.
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Infecções por HIV , Reconstituição Imune , Humanos , Linfócitos T Reguladores , Infecções por HIV/tratamento farmacológico , Mucosa Intestinal , Contagem de LinfócitosRESUMO
The intestinal epithelial barrier plays an important role during human immunodeficiency virus (HIV) disease progression. However, the extent to which the intestinal epithelial barrier is damaged in immunological non-responders (INRs) and immunological responders (IRs) is largely unknown. In this study, we investigated and compared the levels of intestinal gland damage and related molecules, including the tight junction protein claudin-1, apoptosis marker caspase-3, HIV DNA, CD4+ T cell count, and inflammation marker tumor necrosis factor-α (TNF-α) among the IRs (n = 10), INRs (n = 8), and healthy controls (HCs, n = 7). Intestinal damage was not completely restored in both INRs and IRs and was more serious in INRs than that in IRs. Moreover, intestinal damage was positively correlated with HIV DNA levels and negatively correlated with CD4+ T cell counts. These results provide insight into understanding the characteristics of intestinal epithelial barrier damage between IRs and INRs.