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1.
BMC Psychiatry ; 21(1): 485, 2021 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-34607584

RESUMO

BACKGROUND: The Mini-Mental State Examination (MMSE) and the Montreal Cognitive Assessment (MoCA) are the most commonly used scales to detect mild cognitive impairment (MCI) in population-based epidemiologic studies. However, their comparison on which is best suited to assess cognition is scarce in samples from multiple regions of China. METHODS: We conducted a cross-sectional analysis of 4923 adults aged ≥55 years from the Community-based Cohort Study on Nervous System Diseases. Objective cognition was assessed by Chinese versions of MMSE and MoCA, and total score and subscores of cognitive domains were calculated for each. Education-specific cutoffs of total score were used to diagnose MCI. Demographic and health-related characteristics were collected by questionnaires. Correlation and agreement for MCI between MMSE and MoCA were analyzed; group differences in cognition were evaluated; and multiple logistic regression model was used to clarify risk factors for MCI. RESULTS: The overall MCI prevalence was 28.6% for MMSE and 36.2% for MoCA. MMSE had good correlation with MoCA (Spearman correlation coefficient = 0.8374, p < 0.0001) and moderate agreement for detecting MCI with Kappa value of 0.5973 (p < 0.0001). Ceiling effect for MCI was less frequent using MoCA versus MMSE according to the distribution of total score. Percentage of relative standard deviation, the measure of inter-individual variance, for MoCA (26.9%) was greater than for MMSE (19.0%) overall (p < 0.0001). Increasing age (MMSE: OR = 2.073 for ≥75 years; MoCA: OR = 1.869 for≥75 years), female (OR = 1.280 for MMSE; OR = 1.163 for MoCA), living in county town (OR = 1.386 and 1.862 for MMSE and MoCA, respectively) or village (OR = 2.579 and 2.721 for MMSE and MoCA, respectively), smoking (OR = 1.373 and 1.288 for MMSE and MoCA, respectively), hypertension (MMSE: OR = 1.278; MoCA: OR = 1.208) and depression (MMSE: OR = 1.465; MoCA: OR = 1.350) were independently associated with greater likelihood of MCI compared to corresponding reference group in both scales (all p < 0.05). CONCLUSIONS: MoCA is a better measure of cognitive function due to lack of ceiling effect and with good detection of cognitive heterogeneity. MCI prevalence is higher using MoCA compared to MMSE. Both tools identify concordantly modifiable factors for MCI, which provide important evidence for establishing intervention measures.

2.
BMJ Open ; 11(10): e046412, 2021 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-34649844

RESUMO

INTRODUCTION: Reducing sodium intake has been identified as a highly cost-effective strategy to prevent and control high blood pressure and reduce cardiovascular mortality. This study aims to compare the sodium content in processed meat and fish products among five countries, which will contribute to the evidence-base for feasible strategies of sodium reduction in such products. METHODS: Sodium content on product labels of 26 500 prepackaged products, 19 601 meat and 6899 fish, was collected in supermarkets from five countries using the FoodSwitch mobile application from 2012 to 2018. To be specific, it was 1898 products in China, 885 in the UK, 5673 in Australia, 946 in South Africa and 17 098 in the USA. Cross-sectional comparisons of sodium levels and proportions meeting 2017 UK sodium reduction targets were conducted using Kruskal-Wallis H and the χ2 test, respectively across the five countries. RESULTS: The results showed that processed meat and fish products combined in China had the highest sodium level (median 1050 mg/100 g, IQR: 774-1473), followed by the USA, South Africa, Australia, with the lowest levels found in UK (432 mg/100 g, IQR: 236-786) (p<0.001). Similar variations, that is, a twofold to threefold difference of sodium content between the highest and the lowest countries were found among processed meat and fish products separately. Large sodium content variations were also found in certain specific food subcategories across the five countries, as well as across different food subcategories within each country. CONCLUSION: Processed meat and fish products differ greatly in sodium content across different countries and across different food subcategories. This indicates great potential for food producers to reformulate the products in sodium content, as well as for consumers to select less salted food.

3.
Eur J Med Genet ; 64(12): 104362, 2021 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-34637946

RESUMO

Autosomal recessive deafness-102 (DFNB102), a new profound prelingual non-syndromic hearing loss, is caused by mutations in the EPS8 gene. To date, only three such consanguineous families with three different homozygous variants in EPS8 have been reported. Here, we report the fourth case from a non-consanguineous Chinese family, an 11-month-old male infant presented with congenital profound non-syndromic hearing loss. Trio whole-exome sequencing initially identified the patient with a novel seemingly homozygous splicing variant NM_004447.5: c.1435-2A > T in intron 14 of the EPS8 gene and was inherited from his father; further CNVs analysis identified a novel 65.9 kb intragenic deletion and was inherited from his mother. The deletion is covering intron 14 that could account for the apparent homozygosity of the patient. In vitro splicing assay showed the variant c.1435-2A > T creates a new donor site at position c.1443, which is predicted to produce a stop codon after 14 additional amino acids (p.His479Cysfs*14). Furthermore, quantitative allele-specific expression assay showed that relative EPS8 gene expression in the patient significantly decreased (0-fold for the wild-type transcript and 0.25-0.27-fold for the mutant transcript) compared to the control (P < 0.05), indicating the pathogenicity of the identified variants. Overall, our study provides additional evidence that EPS8 is a causative gene for DFNB102 and highlights the clinical utility of simultaneous analysis of CNVs and SNVs to avoid potential errors in the diagnosis and interpretation of patients with apparent homozygosity.

4.
Front Pediatr ; 9: 713458, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34660482

RESUMO

MEGDEL syndrome and SATB2-associated syndrome (SAS) are both rare congenital disorders with poor prognoses caused by gene mutations. We present the case of a 2-day-old girl with an unexplained abnormal liver function, feeding problem, and dystonia. Using next-generation sequencing, we identified two novel mutations in SERAC1 and a mutation in SATB2. Now, she is 15 months old and has the characteristics of SAS, such as downslanting palpebral fissures and delayed primary dentition. Besides the typical phenotypes of MEGDEL syndrome, such as hypertonia, failure to thrive, deafness, and motor regression, she has progressive cholestasis and is prone to high serum lactate after rehabilitation training and hypoglycemia with low ketone under starving conditions. These phenotypes substantially differ from the transient liver function abnormalities and hypoglycemia reported in the literature.

7.
Environ Pollut ; 290: 118118, 2021 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-34523527

RESUMO

The health impact of changes in particulate matter with an aerodynamic diameter <2.5 µm (PM2.5) pollution associated with the COVID-19 lockdown has aroused great interest, but the estimation of the long-term health effects is difficult because of the lack of an annual mean air pollutant concentration under a whole-year lockdown scenario. We employed a time series decomposition method to predict the monthly PM2.5 concentrations in urban cities under permanent lockdown in 2020. The premature mortality attributable to long-term exposure to ambient PM2.5 was quantified by the risk factor model from the latest epidemiological studies. Under a whole-year lockdown scenario, annual mean PM2.5 concentrations in cites ranged from 5.4 to 68.0 µg m-3, and the national mean concentration was reduced by 32.2% compared to the 2015-2019 mean. The Global Exposure Mortality Model estimated that 837.3 (95% CI: 699.8-968.4) thousand people in Chinese cities would die prematurely from illnesses attributable to long-term exposure to ambient PM2.5. Compared to 2015-2019 mean levels, 140.2 (95% CI: 122.2-156.0) thousand premature deaths (14.4% of the annual mean deaths from 2015 to 2019) attributable to long-term exposure to PM2.5 were avoided. Because PM2.5 concentrations were still high under the whole-year lockdown scenario, the health benefit is limited, indicating that continuous emission-cutting efforts are required to reduce the health risks of air pollution. Since a similar scenario may be achieved through promotion of electric vehicles and the innovation of industrial technology in the future, the estimated long-term health impact under the whole year lockdown scenario can establish an emission-air quality-health impact linkage and provide guidance for future emission control strategies from a health protection perspective.

9.
J Dermatol Sci ; 2021 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-34551863

RESUMO

BACKGROUND: Amyloidosis cutis dyschromica (ACD) is a rare form of primary cutaneous amyloidosis featured by reticulate dotted hypo- and hyperpigmentation. Recently, loss-of-function mutations in GPNMB, encoding glycoprotein (transmembrane) nonmetastatic melanoma protein B, were found in autosomal-recessive or semi-dominant ACD. OBJECTIVE: This study aims to detect the genetic defect underlying ACD in nine separate cases and to investigate the functional consequences of the mutants. METHODS: Nine ACD cases were collected including eight with autosomal-recessive pattern and one with autosomal-dominant pattern. Whole-exome sequencing or Sanger sequencing of the GPNMB gene was performed to detect the pathogenic mutations. Haplotype analysis was employed to determine the origin of mutation c.565C > T using adjacent highly polymorphic SNPs. Immunoblotting and subcellular localization assessments were performed to evaluate the expression of the mutants using HEK293 cells transfected with the GPNMB constructs. RESULTS: We detected four recurrent mutations (c.393 T > G, p.Y131*; c.565C > T, p.R189*; c.1056delT, p.P353Lfs*20; c.1238 G > C, p.C413S) and two novel mutations (c.935delA, p.N312Tfs*4; c.969 T > A, p.C323*) in GPNMB. Mutation c.565C > T found in six separate ACD cases shared a common haplotype. The two novel mutations caused a decreased abundance of truncated proteins. The c.1238 G > C mutation, which was detected in the autosomal-dominant case, caused abnormal reticular subcellular localization of the protein. A major percentage of wildtype changed its expression pattern when co-expressed with this mutant. CONCLUSIONS: Our findings proved that the recurrent mutation c.565C > T originated from a founder effect. The autosomal-dominant ACD associated mutation p.C413S played its pathogenic role through a dominant-negative effect on wild-type GPNMB. This study expands the genotype and inherited modes of ACD and improves our understanding of the pathogenesis of this disorder.

10.
Nutrients ; 13(9)2021 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-34578974

RESUMO

Studies on the intraindividual double burden of malnutrition (DBM) among Chinese children and adolescents were lacking. This study aimed to analyze the prevalence of intraindividual DBM defined as the coexistence of overweight/obesity and dietary micronutrient intake insufficiency and investigate dietary micronutrient intake in Chinese children and adolescents. Using data from the 2015 China Health and Nutrition Survey (CHNS), 1555 children and adolescents aged 6 to 17 years were selected as the subjects. We referred to China Food Composition to calculate the intakes of 11 selected dietary micronutrients from diet data collected by consecutive three days of 24 h recalls combined with household weighing of seasonings. We used the Chinese estimated average requirement (EARs) as a cutoff to define the dietary micronutrients deficiency, and applied the body-mass-index-for-age Z-scores (BAZ) of World Health Organization (WHO) child growth standards to define the category of body weight. Among the subjects in present study, the prevalence of overweight and obesity was 15.43% and 11.06%, respectively, and 26.24% of the subjects had undergone intraindividual DBM. The results suggest that the prevalence of intraindividual DBM and dietary micronutrients deficiency in Chinese children and adolescents is high.

12.
Br J Nutr ; : 1-11, 2021 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-34470677

RESUMO

Little is known about the impact of modifiable risk factors on blood pressure (BP) trajectories and their associations with hypertension (HTN). We aimed to identify BP trajectories in normotensive Chinese adults and explore their influencing factors and associations with HTN. We used data from 3436 adults with at least four BP measurements between 1989 and 2018 in the China Health and Nutrition Survey, an ongoing cohort study. We measured BP using mercury sphygmomanometers with appropriate cuff sizes in all surveys. We used group-based trajectory modelling to identify BP trajectories between 1989 and 2009 and multiple logistic and Cox regression models to analyse their influencing factors and associations with HTN in 2011-2018. We identified five systolic blood pressure (SBP) trajectories, 'Low-increasing (LI)', 'Low-stable (LS)', 'Moderate-increasing (MI)', 'High-stable (HS)' and 'Moderate-decreasing (MD)', and four diastolic blood pressure (DBP) trajectories classified as 'Low-increasing (LI)', 'Moderate-stable (MS)', 'Low-stable (LS)' and 'High-increasing (HI)'. People with higher physical activity (PA) levels and lower waist circumferences (WC) were less likely to be in the SBP LI, MI, HS and MD groups (P < 0·05). People with higher fruit and vegetable intakes, lower WCs and salt intakes and higher PA levels were less likely to be in the DBP LI, MS and HI groups (P < 0·05). Participants in the SBP HS group (hazard ratio (HR) 2·01) or the DBP LI, MS and HI groups (HR 1·38, 1·40, 1·71, respectively) had higher risks of HTN (P < 0·05). This study suggests that BP monitoring is necessary to prevent HTN in the Chinese population.

14.
J Leukoc Biol ; 2021 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-34402104

RESUMO

Stem cell-like memory T cells (Tscm), are a newly defined memory T cell subset with characteristics of long life span, consistent self-renewing, rapid differentiation into effector T cells, and apoptosis resistance. These features indicate that Tscm have great therapeutic or preventive purposes, including being applied in chimeric Ag receptor-engineered T cells, TCR gene-modified T cells, and vaccines. However, the little knowledge about Tscm development restrains their applications. Strength and duration of TCR signaling, cytokines and metabolism in the T cells during activation all influence the Tscm development via regulating transcriptional factors and cell signaling pathways. Here, we summarize the molecular and cellular pathways involving Tscm differentiation, and its clinical application for cancer immunotherapy and prevention.

15.
Nutrients ; 13(8)2021 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-34444995

RESUMO

It is essential to understand the impact of different dietary pattern trajectories on health over time. Therefore, we aimed to explore the long-term trajectories of dietary patterns among Chinese adults and examine the prospective association between different trajectory groups and the risk of overweight/obesity. The sample was 9299 adults aged 18 years or older from the China Health and Nutrition Survey (CHNS) between 1991 and 2018. We used factor analysis to identify dietary patterns and group-based trajectory modeling to identify dietary pattern trajectories. Three trajectories of a southern pattern and a modern pattern and four trajectories of a meat pattern were identified. Participants who followed the highest initial score and a slight decrease trajectory (OR = 1.63; 95% CI: 1.04, 2.54) of the meat dietary pattern were positively associated with risk of overweight/obesity when compared with the lowest initial score trajectory. The southern dietary pattern and the modern dietary pattern trajectories of participants in Group 2 (OR = 0.64; 95% CI: 0.51, 0.81; OR = 0.76; 95% CI: 0.63, 0.91) and Group 3 (OR = 0.71; 95% CI: 0.54, 0.91; OR = 0.64; 95% CI: 0.44, 0.90) were associated with lower risk of overweight/obesity when compared with Group 1. We observed that dietary pattern trajectories have different associations with overweight/obesity among Chinese adults.

16.
Hematol Oncol ; 2021 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-34392561

RESUMO

In recent years, genome-based classifications for hematological neoplasms have been proposed successively and proved to be more accurate than histologic classifications. However, some previous studies have reported the racial differences of genetic landscape in persons with hematological neoplasms including myelodysplastic syndromes (MDS), which may cause a genomic classification based on a particular ethnic group does not operate in other races. To determine whether race plays an important role in the genomic-based classification, we validated a newly proposed genomic classification of MDS (J Clin Oncol.2021; JCO2001659), which was based on a large European database, in Chinese patients from our center. Our results showed significant differences between Chinese and European patients including proportion of each group to overall cohort when applying this novel genomic classification. Our data indicate that a genomic classification of hematological neoplasms probably should be revised according to specific genetic features in different races.

17.
Nutrients ; 13(6)2021 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-34199924

RESUMO

The nutrition status of children is gaining more attention with a rapid nutrition transition. This study aimed to investigate trends and urban-rural differences in dietary energy and macronutrient composition among Chinese children. A total of 7565 participants aged 6 to 17 years were obtained from three rounds (1991, 2004 and 2015) of the Chinese Health and Nutrition Survey (CHNS). The individual diet was evaluated via three consecutive 24-hour dietary recalls and compared with the Chinese Dietary Reference Intakes (DRIs). From 1991 to 2015, there was a significant increase in children's fat intake, the proportion of energy intake from fat, and the proportion of children with more than 30% of energy from fat and less than 50% of energy from carbohydrates (p < 0.001). Compared with the DRI, the proportion with higher fat and lower carbohydrate intakes were, respectively, 64.7% and 46.8% in 2015. The urban-rural disparities in fat and carbohydrate intake gradually narrowed, while the gap in protein intake increased notably over time (p < 0.001). Chinese children experienced a rapid transformation to a low-carbohydrate and high-fat diet. Urban-rural disparities persistently existed; further nutritional interventions and education were of great significance, so as to ensure a more balanced diet for Chinese children.


Assuntos
Ingestão de Alimentos , Ingestão de Energia , População Rural/estatística & dados numéricos , População Urbana/estatística & dados numéricos , Adolescente , Criança , China/epidemiologia , Feminino , Disparidades nos Níveis de Saúde , Humanos , Masculino , Inquéritos Nutricionais , Fatores Socioeconômicos
18.
Toxicol Lett ; 350: 98-110, 2021 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-34214594

RESUMO

Methamphetamine (METH) is a highly addictive amphetamine-type drug that has caused persistent harm to society and human health in recent years. Most studies have shown that METH severely damages the central nervous system, and this drug has been found to be toxic to the cardiovascular system in recent years. Therefore, we hypothesized that METH may also damage vascular smooth muscle. We examined the expression of the apoptosis-related proteins Caspase 3 and PARP after METH treatment in vivo and in vitro and detected the expression of endoplasmic reticulum stress-related proteins. After treatment with the endoplasmic reticulum stress inhibitor 4-PBA, changes in the above indicators were examined. C/EBP homologous protein (Chop) expression was also detected, and the relationship between endoplasmic reticulum stress and apoptosis was further determined by siRNA silencing of Chop. The results indicated that METH can induce apoptosis of vascular smooth muscle cells (VSMCs) and upregulate the expression of Chop and endoplasmic reticulum stress-related proteins. Chop inhibits protein kinase B phosphorylation and further inhibits forkhead box class O3a (Foxo3a) dephosphorylation, resulting in increased p53 upregulated molecular of apoptosis (PUMA) transcription. Increased PUMA induces apoptosis through the mitochondrial pathway. These results indicate that Chop is involved in the METH-induced endoplasmic reticulum stress and apoptosis in VSMCs and may be a potential therapeutic target for METH-induced VSMC injury.


Assuntos
Apoptose/efeitos dos fármacos , Caspase 3/metabolismo , Estresse do Retículo Endoplasmático/efeitos dos fármacos , Metanfetamina/toxicidade , Músculo Liso Vascular/efeitos dos fármacos , Animais , Humanos , Masculino , Modelos Animais , Ratos Sprague-Dawley , Fator de Transcrição CHOP/metabolismo
19.
Br J Haematol ; 194(5): 862-869, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34328213

RESUMO

The role of minimal residual disease (MRD) in splenic marginal zone lymphoma (SMZL) has not been well studied. We prospectively designed a study to evaluate undetectable MRD (uMRD) by multiparameter flow cytometry as a prognostic factor. Residual disease level of <0·01% was defined as uMRD. A total of 71 newly diagnosed patients with bone marrow involvement were enrolled and all received rituximab-based therapy. The overall response rate (ORR) was 98·5% (70/71), with a complete remission (CR) rate of 54·9% (39/71). There were a total of 295 MRD detections in bone marrow and 77·4% patients (55/71) had uMRD. The 5-year progression-free survival (PFS) [(74·8 ± 6·5)% vs. (31·4 ± 12·6)%, P < 0·001] and 5-year overall survival (OS) [(87·2 ± 5·6)% vs. (68·9 ± 13·4)%, P = 0·035] were significantly higher in uMRD patients than in MRD-positive patients. The 5-year PFS in partial remission (PR) patients with positive MRD was significantly poorer than that of PR patients with uMRD [(21·1 ± 12·9)% vs. (83·3 ± 8·8)%, P = 0·005]. Multivariate prognostic analysis revealed that uMRD was an independent good prognostic factor for PFS (hazard ratio 0·162, 95% confidence interval 0·041-0·635; P = 0·009). All these results highlight uMRD as an independent prognostic factor in patients with SMZL, especially for patients who only achieve PR.

20.
Hereditas ; 158(1): 18, 2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-34074347

RESUMO

BACKGROUND: CLOVES syndrome (OMIM# 612918) is a rare overgrowth disorder resulted from mosaic gain-of-function mutations in the PIK3CA gene. All the reported CLOVES-associated PIK3CA mutations are missense mutations affecting certain residues. We aim to investigate underlying mutation and its pathogenicity in a patient with CLOVES syndrome and to evaluate the inhibitory effects of the PI3K/AKT/mTOR pathway inhibitors. RESULTS: We performed whole-exome sequencing (WES) and Sanger sequencing to detect underlying somatic mutations in the skin lesion of the patient. Quantitative real-time PCR (qRT-PCR) was employed to evaluate the mRNA abundance of PIK3CA in the patient's skin lesion. AKT phosphorylation level assessed by immunoblotting of lysates from transiently transfected cells was performed to evaluate the PIK3CA mutations and inhibitory effects of PI3K/AKT/mTOR pathway inhibitors. A somatic frameshift mutation c.3206_3207insG (p.X1069Trpfs*4) in PIK3CA was identified in the genomic DNA extracted from the vascular malformation sample of the patient. This mutation affects the canonical stop codon of PIK3CA (NM_006218.4) and is predicted to produce a prolonged protein with four additional residues. qRT-PCR demonstrated that the mRNA expression levels of the patient's affected skin tissue were comparable compared to the normal control. In vitro studies revealed that p.X1069Trpfs*4 mutant exhibited increased AKT phosphorylation significantly to that of the wildtype, which could be inhibited by PI3K/AKT/mTOR pathway inhibitors. CONCLUSIONS: We have identified the first frameshift mutation in PIK3CA that causes CLOVES syndrome, which was confirmed to overactive PI3K/AKT/mTOR pathway by transient transfection assays. We also provided more evidence of ARQ092 to be a potential therapeutic option for PROS in vitro.

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