Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 62.903
Filtrar
1.
Lancet Oncol ; 21(10): 1378-1386, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33002439

RESUMO

BACKGROUND: Genetic variants and lifestyle factors have been associated with gastric cancer risk, but the extent to which an increased genetic risk can be offset by a healthy lifestyle remains unknown. We aimed to establish a genetic risk model for gastric cancer and assess the benefits of adhering to a healthy lifestyle in individuals with a high genetic risk. METHODS: In this meta-analysis and prospective cohort study, we first did a fixed-effects meta-analysis of the association between genetic variants and gastric cancer in six independent genome-wide association studies (GWAS) with a case-control study design. These GWAS comprised 21 168 Han Chinese individuals, of whom 10 254 had gastric cancer and 10 914 geographically matched controls did not. Using summary statistics from the meta-analysis, we constructed five polygenic risk scores in a range of thresholds (p=5 × 10-4 p=5 × 10-5 p=5 × 10-6 p=5 × 10-7, and p=5 × 10-8) for gastric cancer. We then applied these scores to an independent, prospective, nationwide cohort of 100 220 individuals from the China Kadoorie Biobank (CKB), with more than 10 years of follow-up. The relative and absolute risk of incident gastric cancer associated with healthy lifestyle factors (defined as not smoking, never consuming alcohol, the low consumption of preserved foods, and the frequent intake of fresh fruits and vegetables), was assessed and stratified by genetic risk (low [quintile 1 of the polygenic risk score], intermediate [quintile 2-4 of the polygenic risk score], and high [quintile 5 of the polygenic risk score]). Individuals with a favourable lifestyle were considered as those who adopted all four healthy lifestyle factors, those with an intermediate lifestyle adopted two or three factors, and those with an unfavourable lifestyle adopted none or one factor. FINDINGS: The polygenic risk score derived from 112 single-nucleotide polymorphisms (p<5 × 10-5) showed the strongest association with gastric cancer risk (p=7·56 × 10-10). When this polygenic risk score was applied to the CKB cohort, we found that there was a significant increase in the relative risk of incident gastric cancer across the quintiles of the polygenic risk score (ptrend<0·0001). Compared with individuals who had a low genetic risk, those with an intermediate genetic risk (hazard ratio [HR] 1·54 [95% CI 1·22-1·94], p=2·67 × 10-4) and a high genetic risk (2·08 [1·61-2·69], p<0·0001) had a greater risk of gastric cancer. A similar increase in the relative risk of incident gastric cancer was observed across the lifestyle categories (ptrend<0·0001), with a higher risk of gastric cancer in those with an unfavourable lifestyle than those with a favourable lifestyle (2·03 [1·46-2·83], p<0·0001). Participants with a high genetic risk and a favourable lifestyle had a lower risk of gastric cancer than those with a high genetic risk and an unfavourable lifestyle (0·53 [0·29-0·99], p=0·048), with an absolute risk reduction of 1·12% (95% CI 0·62-1·56). INTERPRETATION: Chinese individuals at an increased risk of incident gastric cancer could be identified by use of our newly developed polygenic risk score. Compared with individuals at a high genetic risk who adopt an unhealthy lifestyle, those who adopt a healthy lifestyle could substantially reduce their risk of incident gastric cancer. FUNDING: National Key R&D Program of China, National Natural Science Foundation of China, 333 High-Level Talents Cultivation Project of Jiangsu Province, and China Postdoctoral Science Foundation.


Assuntos
Predisposição Genética para Doença/genética , Estilo de Vida Saudável , Neoplasias Gástricas/genética , Adulto , Idoso , Grupo com Ancestrais do Continente Asiático , China/epidemiologia , Feminino , Seguimentos , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/psicologia , Estudo de Associação Genômica Ampla/estatística & dados numéricos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Herança Multifatorial , Polimorfismo de Nucleotídeo Único , Estudos Prospectivos , Fatores de Risco , Neoplasias Gástricas/epidemiologia , Neoplasias Gástricas/psicologia
2.
Wei Sheng Yan Jiu ; 49(5): 699-704, 2020 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-33070813

RESUMO

OBJECTIVE: To study the relationship between 25-hydroxyvitamin D [25(OH)D] concentration and intact parathyroid hormone(iPTH) concentration in the Chinese non-clinical population aged 18-44 y, and to explore the threshold value of determining the appropriate nutritional status of vitamin D. METHODS: A total of 650 plasma samples of adults aged 18-44 years old were selected from the established biological samples' bank of Chinese Chronic Diseases and Nutrition Survey(CCDNS, 2015-2018). Basic information(including age, gender, region type, season, etc. ) was collected by questionnaires, and the waist circumference, height and weight of the subjects were determined unified. North and South area was divided by Qinling Mountains and Huaihe River. The serum 25(OH)D concentration was determined by high performance liquid chromatography tandem mass spectrometer, and the iPTH was determined by electronic chemiluminescence method. The relationship of 25(OH)D and iPTH were analyzed by partial correlation analysis, and the threshold of 25(OH)D was analyzed by locally weighted scatter plot smoothing method after adjusting the iPTH by age, season of blood draw, BMI, waist, sex and latitude. RESULTS: A total of 623 serum samples(293 male, 330 female) of 25(OH)D concentration and iPTH concentration were analyzed after excluding samples with poor blood sample quality. Significant higher 25(OH)D concentration was found in male than female(P<0. 0001). And the samples from the southern China had higher 25(OH)D concentration than those from the northern China(P<0. 0001). Samples from autumn had higher 25(OH)D concentration than those from spring and winter(P<0. 0001). The 25(OH)D concentration of samples from cities was lower than that of rural areas(P=0. 018). The inversely relationship between 25(OH)D concentration and iPTH concentration was observed when the 25(OH)D was below 17. 6 ng/mL for both sexes. The threshold of 25(OH)D for male was 16. 2 ng/mL and it was 25. 6 ng/mL for female. CONCLUSION: The threshold and the relationship between 25(OH)D and iPTH differs by sex among Chinese adults aged 18-44 y. Further study is needed to evaluate the sex-specific ranges of optimal vitamin D.


Assuntos
Deficiência de Vitamina D , Adolescente , Adulto , Grupo com Ancestrais do Continente Asiático , Calcifediol , China/epidemiologia , Feminino , Humanos , Masculino , Hormônio Paratireóideo , Deficiência de Vitamina D/epidemiologia , Adulto Jovem
3.
Medicine (Baltimore) ; 99(41): e22663, 2020 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-33031330

RESUMO

RATIONALE: GNE myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase(GNE) gene and is clinically characterized by progressive weakness and atrophy of the lower-limb muscles with quadriceps sparing. Nearly all GNE mutations that have been reported thus far in various ethnic populations around the world have been missense or nonsense mutations. PATIENT CONCERNS: We describe the case of a 32-year-old woman with GNE myopathy. The patient presented with progressive weakness of the lower-limb muscles that had spread to her legs. Her serum creatine kinase level was higher than the normal range. Mild myogenic changes were detected in the tibialis anterior muscles on electromyography, and moderate fatty infiltration was observed in various lower-limb muscles on magnetic resonance imaging. Histopathological examination of a skeletal muscle biopsy specimen revealed variation in muscle fiber size, rimmed vacuoles, and disorganized intermyofibrillar networks. DNA sequencing testing revealed a compound heterozygous mutation consisting of a known mutation (c.620A > T in exon 3) and a novel (exon 1 deletion) mutation. DIAGNOSES: Taken together, the clinical features, laboratory testing and DNA findings eventually made the diagnosis of GNE myopathy. INTERVENTIONS AND OUTCOMES: Based on the diagnosis of the GNE myopathy, the patient was administered sialic acid 6 g a day for 1 year, and up to now, her symptoms did not progress further. LESSONS: We have reported the case of a GNE myopathy patient with compound heterozygous GNE gene mutations. This case expands the genotypic spectrum of GNE myopathy.


Assuntos
Complexos Multienzimáticos/genética , Doenças Musculares/genética , Adulto , Grupo com Ancestrais do Continente Asiático , Feminino , Humanos , Deleção de Sequência
4.
Zhonghua Xin Xue Guan Bing Za Zhi ; 48(10): 831-836, 2020 Oct 24.
Artigo em Chinês | MEDLINE | ID: mdl-33076619

RESUMO

Objective: To investigate the clinical characteristics and gene mutation, and analyze the association between genotype and phenotype of hereditary protein S deficiency in a Chinese pedigree. Methods: Hereditary protein S deficiency was diagnosed in January 2016 in our hospital. A total of 26 family members were surveyed in this study. Blood samples and clinical data were collected from them, and mutations were identified by Sanger sequencing. Pathogenicity of gene mutations was predicted by protein function prediction software including SIFT, PolyPhen_2, nsSNPAnalyzer and MutPred2. Swiss Model (https://swissmodel.expasy.org/) was used to perform homology modeling of the tertiary structure of the protein S wild-type and mutant-type, and observe the impact of gene mutation on the tertiary structure of the protein. Results: Four out of 26 family members of 4 generations were clinically diagnosed with hereditary protein S deficiency. The proband presented with recurrent pulmonary embolism and venous thromboembolism of the lower extremities, and her uncle and mother had a history of venous thromboembolism. Sequencing revealed a mutation in the c.200A>C gene in the second exon of the PROS1 gene of proband and part of her families (Ⅱ2, Ⅱ6, Ⅲ4, Ⅳ2). The prediction results of this gene mutation performed by SIFT, PolyPhen_2, nsSNPAnalyzer, MutPred2 were all harmful. The results of Swiss-Model homology modeling showed that the 67th amino acid was mutated from glutamic acid to alanine because of this gene mutation. Conclusion: A gene mutation cDNA (c. 200A>T) is identified in a Chinese pedigree with hereditary protein S deficiency. This gene mutation may reduce protein S activity, which may cause recurrent pulmonary embolism and venous thromboembolism of the patients.


Assuntos
Deficiência de Proteína S , Grupo com Ancestrais do Continente Asiático/genética , Éxons , Feminino , Humanos , Linhagem , Inquéritos e Questionários
5.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(5): 809-814, 2020 Oct 18.
Artigo em Chinês | MEDLINE | ID: mdl-33047712

RESUMO

OBJECTIVE: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect, affecting 1.4 per 1 000 live births, and multiple genetic and environmental risk factors influencing its risk. All the known genetic risk factors accounted for a small proportion of the heritability. Several authors have suggested parent-of-origin effects (PoO) may play an important role in the etiology of this complex and heterogeneous malformation. To clarify the genetic association between PTCH1, PTCH2, SHH and SMO in hedgehog (HH) pathway and NSCL/P, as well as testing for potential PoO effects in Chinese case-parent trios. METHODS: We tested for transmission disequilibrium tests (TDT) and PoO effects using 83 common single nucleotide polymorphic (SNP) markers of HH pathway genes from 806 NSCL/P case-parent trios. These trios were drawn from an international consortium established for a genome-wide association studies (GWAS) of non-syndromic oral clefts of multiple ethnicities. DNA samples were collected from each trio. Single marker and haplotype based analysis were performed both in TDT tests and PoO effects. SNPs were excluded if they (ⅰ) had a call rate of < 95%, (ⅱ) had a minor allele frequency (MAF) of < 0.05, (ⅲ) had Mendelian errors over all trios of >5%, (ⅳ) had a genotype distribution in the parents that deviated from the Hardy-Weinberg equilibrium (HWE) (P < 0.000 1). The process was done using Plink (version 1.07, http://pngu.mgh.harvard.edu/~purcell/plink/data.shtml). TDT test was performed in Plink v1.07. A log-linear model was used to explore PoO effects using Haplin v6.2.1 as implemented in R package v3.4.2. Significance level was assessed using the Bonferroni correction. RESULTS: A total of 18 SNPs were dropped due to low MAF, thus leaving 65 SNPs available for the analysis. Thus the Bonferroni threshold was 7.7×10-4 (0.05/65). Nominal significant association with NSCL/P was found at a SNP (rs4448343 in PTCH1, P=0.023) and six haplotypes (rs10512249-rs4448343, rs1461208-rs7786445, rs10512249-rs4448343, rs16909865-rs10512249-rs4448343, rs1461208-rs7786445-rs12698335, and rs288756-rs288758-rs1151790, P < 0.05). A total of six haplotypes (rs288765-rs1233563, rs12537550-rs11765352, rs872723-rs288765-rs1233563, rs288765-rs1233563-rs288756, rs6459952-rs12537550-rs11765352, and rs12537550-rs11765352-rs6971211) showed PoO effect (P < 0.05). None of the results remained significant after the Bonferroni correction (P>7.7×10-4). CONCLUSION: Neither significant association between SNPs within HH pathway and the risk of NSCL/P nor PoO effects was seen in this study.


Assuntos
Fenda Labial , Fissura Palatina , Grupo com Ancestrais do Continente Asiático , Fenda Labial/genética , Fissura Palatina/genética , Estudo de Associação Genômica Ampla , Proteínas Hedgehog/genética , Humanos , Receptor Patched-2 , Receptor Smoothened
6.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(5): 815-820, 2020 Oct 18.
Artigo em Chinês | MEDLINE | ID: mdl-33047713

RESUMO

OBJECTIVE: In this study, we used genome-wide association study (GWAS) data to explore whether WNT pathway genes were associated with non-syndromic oral clefts (NSOC) considering gene-gene interaction and gene-environment interaction. METHODS: We conducted the analysis using 806 non-syndromic cleft lip with or without cleft palate (NSCL/P) case-parent trios and 202 non-syndromic cleft palate (NSCP) case-parent trios among Chinese populations selected from an international consortium established for a GWAS of non-syndromic oral clefts. Genotype data and maternal environmental exposures were collected through DNA samples and questionnaires. Conditional Logistic regression models were adopted to explore gene-gene interaction and gene-environment in teraction using trio package in R software. The threshold of significance level was set as 3.47×10-4 using Bonferroni correction. RESULTS: A total of 144 single nucleotide polymorphisms (SNPs) in seven genes passed the quality control process in NSCL/P trios and NSCP trios, respectively. Totally six pairs of SNPs interactions showed statistically significant SNP-SNP interaction (P < 3.47×10-4) after Bonferroni correction, which were rs7618735 (WNT5A) and rs10848543 (WNT5B), rs631948 (WNT11) and rs556874 (WNT5A), and rs631948 (WNT11) and rs472631 (WNT5A) among NSCL/P trios; rs589149 (WNT11) and rs4765834 (WNT5B), rs1402704 (WNT11) and rs358792 (WNT5A), and rs1402704 (WNT11) and rs358793 (WNT5A) among NSCP trios, respectively. In addition, no significant result was found for gene-environment interaction analysis in both of the NSCL/P trios and NSCP trios. CONCLUSION: Though this study failed to detect significant association based on gene-environment interactions of seven WNT pathway genes and the risk of NSOC, WNT pathway genes may influence the risk of NSOC through potential gene-gene interaction.


Assuntos
Fenda Labial , Fissura Palatina , Grupo com Ancestrais do Continente Asiático/genética , Fenda Labial/genética , Fissura Palatina/genética , Estudo de Associação Genômica Ampla , Humanos , Via de Sinalização Wnt/genética
7.
Medicine (Baltimore) ; 99(40): e22614, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019481

RESUMO

BACKGROUND: The relationship between MTHFR (5, 10-methylene tetrahydrofolate reductase) gene polymorphisms and Systemic Lupus Erythematosus (SLE) has been wildly studied, but the results are still conflicting. Therefore, the purpose of this meta and pooled analysis was to identify the role of the MTHFR SNP (single nucleotide polymorphism, rs1801133) in SLE in a large sample of subjects and to assess the risk of SLE. METHODS: Data were collected from EMBASE, PubMed and China National Knowledge Infrastructure from inception to August, 2019. Summary odds ratio (OR) with 95% confidence interval (CI) was applied to assess the association. Subgroup and sensitivity analysis were performed to assess the potential sources of heterogeneity of the pooled estimation. RESULTS: We identified seven eligible studies involving 882 cases and 991 controls. MTHFR rs1801133 T carrier was significantly associated with increased risk of SLE when comparing to C allele [ORs were 1.766 (1.014-3.075) for T carrier vs CC, P = .04]. Furthermore, the results of the subgroup analysis by genotyping methods suggested that T allele significantly contributed to the risk of SLE for both by polymerase chain reaction-TaqMan (PCR-TaqMan) [10.111 (2.634-38.813) for TT vs CC, 3.467 (1.324-9.078) for CT vs CC and 3.744 (1.143-12.264) for TT vs C carrier]. Also the results of the subgroup analysis by ethnicity suggested that T allele significantly contributed to the risk of SLE for Asians [9.679 (4.444-21.082) for TT vs CC, 5.866 (3.021-11.389) for T carrier vs CC and 8.052 (3.861-16.795) for TT vs C carrier]. CONCLUSION: This cumulative meta-analysis showed that the MTHFR SNP (rs1801133) contributed to susceptibility of SLE. However, more multicentre well-designed case-control studies and larger sample sizes are exceedingly required to validate our findings in the future.


Assuntos
Lúpus Eritematoso Sistêmico/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo de Nucleotídeo Único/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Portador Sadio , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Lúpus Eritematoso Sistêmico/etnologia , Masculino , Medição de Risco , Sensibilidade e Especificidade
8.
Medicine (Baltimore) ; 99(40): e22620, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019484

RESUMO

RATIONALE: Low-dose mitotane has been widely used for many decades in patients with advanced adrenocortical carcinoma (ACC), which exhibited good safety profiles compared with the high-dose regimen. The clinical efficacy and toxicity of mitotane are closely related to its plasma concentration, and therapeutic drug monitoring (TDM) is recommended. Until now, no severe adverse drug reaction (ADR) related to the toxic plasma level after a short-term treatment of low-dose mitotane has been published. PATIENT CONCERNS: A 50-year-old Chinese female presented with severe neurological adverse events related to a toxic plasma levels of 42.8 mg/L after 4 months treatment of low-dose mitotane. DIAGNOSES: During the course of therapy, no other medication could cause neurological adverse events. Therefore, we suspected a high sensitivity to the side effect of mitotane related to a toxic plasma level. INTERVENTIONS: Treatment of mitotane was stopped. OUTCOMES: The trough plasma concentration of mitotane decreased to 18.7 mg/mL after one and a half months, and the neurological symptoms gradually improved after drug discontinuance. LESSONS: The present case provides the first report of severe neurological adverse events induced by the short-term use of low-dose mitotane for adjuvant treatment in a patient with ACC, indicating that potentially severe ADR can also occur when using low-dose regimen in the early stage of treatment. TDM and early recognition could result in a favorable outcome.


Assuntos
Neoplasias do Córtex Suprarrenal/patologia , Carcinoma Adrenocortical/tratamento farmacológico , Antineoplásicos Hormonais/toxicidade , Mitotano/toxicidade , Doenças do Sistema Nervoso/induzido quimicamente , Antineoplásicos Hormonais/sangue , Antineoplásicos Hormonais/uso terapêutico , Grupo com Ancestrais do Continente Asiático/etnologia , Monitoramento de Medicamentos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Feminino , Humanos , Pessoa de Meia-Idade , Mitotano/sangue , Mitotano/uso terapêutico , Síndromes Neurotóxicas , Resultado do Tratamento , Suspensão de Tratamento
9.
Medicine (Baltimore) ; 99(40): e22639, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019487

RESUMO

INTRODUCTION: Tuberculous meningitis (TBM) is the most fatal type of tuberculosis in which corticosteroids are added with antitubercular therapy to prevent permanent brain damage. However, this treatment may produce paradoxical reactions. In such cases, thalidomide use might reduce central nervous system inflammation and improve the outcome. We present the case of a human immunodeficiency virus-negative patient with TBM who developed paradoxical reactions manifesting as multiple intracranial tuberculomas that were resistant to standard care (antitubercular drugs and corticosteroids) but responded well to thalidomide. PATIENT'S MAIN CONCERN AND CLINICAL FINDINGS: The patient was a 40-year-old Chinese female, who was admitted with a 10-day history of headaches, night sweats, and cough. She was healthy before contracting the infection and had no history of contact with tuberculosis patients. DIAGNOSES, INTERVENTION, AND OUTCOME: We diagnosed the patient with TBM complicated by the occurrence of pulmonary tuberculosis. Positive results were obtained from Gram and Ziehl-Neelsen staining of the sputum and acid-fast bacilli sputum culture. Standard treatment was initiated with antitubercular drugs (daily isoniazid, rifampicin, ethionamide, and pyrazinamide) and corticosteroids (dexamethasone). However, 3 months later the magnetic resonance imaging of the head revealed some new tuberculoma lesion. Thus, a specific therapy of antitubercular drugs and thalidomide was introduced. On completion of a 12-month course of antitubercular drugs with 2 months of thalidomide, the patient showed favorable outcomes without neurologic sequelae. Moreover, thalidomide appeared safe and well tolerated in the patient. CONCLUSION: In addition to the specific anti-tubercular and adjuvant corticosteroid therapies for TBM, thalidomide can be used as a "salvage" antitubercular drug in cases that are unresponsive to corticosteroids.


Assuntos
HIV/imunologia , Imunossupressores/uso terapêutico , Talidomida/uso terapêutico , Tuberculose Meníngea/tratamento farmacológico , Tuberculose Pulmonar/complicações , Corticosteroides/uso terapêutico , Adulto , Antituberculosos/uso terapêutico , Grupo com Ancestrais do Continente Asiático/etnologia , Encéfalo/patologia , Quimioterapia Combinada , Feminino , Hospitalização , Humanos , Imagem por Ressonância Magnética/métodos , Terapia de Salvação , Resultado do Tratamento , Tuberculoma/diagnóstico por imagem , Tuberculose Meníngea/diagnóstico , Tuberculose Pulmonar/tratamento farmacológico
10.
BMC Infect Dis ; 20(1): 732, 2020 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-33028241

RESUMO

BACKGROUND: Adolescent sexual debut and non-consensual sex have been linked to higher sexual risk and STI infection in adulthood among men who have sex with men (MSM) in high-income countries. This study aimed to examine adolescent and non-consensual anal sexual debut among Chinese MSM and to evaluate factors associated with adolescent sexual debut and non-consensual anal sex. METHODS: A cross-sectional study was conducted recently among Chinese men assigned male sex at birth, ≥18 years old, and who had ever engaged in anal sex with a man. Participants answered questions regarding socio-demographics, condomless sex, age at anal sexual debut with a man, and whether the first anal sex was consensual. Factors associated with an adolescent sexual debut (< 18 years old) and non-consensual sex at sexual debut were evaluated. We defined adolescent sexual debut as having anal sex with another man at 17 years old or younger, and the participants were asked whether their first male-to-male anal sex was non-consensual. RESULTS: Overall, 2031 eligible men completed the survey. The mean age of sexual debut was 20.7 (SD = 4.3) years old. 17.6% (358/2031) of men reported adolescent sexual debut, and 5.0% (101/2031) reported a non-consensual sexual debut. The adolescent sexual debut was associated with having more male sexual partners (adjusted OR 1.10, 95% CI 1.06-1.15) and condomless anal sex in the last three months (AOR = 1.71, 95% CI 1.34-2.18). MSM whose sexual debut was non-consensual were more likely to have condomless anal sex (AOR = 1.76, 95% CI 1.17-2.66), and to have reported an adolescent sexual debut (AOR = 2.72, 95% CI 1.75-4.21). CONCLUSIONS: Many Chinese MSM reported adolescent sexual debut and non-consensual sex, both of which are associated with sexual risk behaviors and drive STI transmission. These findings highlight the need for designing tailored interventions for MSM who experienced adolescent sexual debut and non-consensual sex at debut.


Assuntos
Homossexualidade Masculina/estatística & dados numéricos , Comportamento Sexual/estatística & dados numéricos , Adolescente , Adulto , Grupo com Ancestrais do Continente Asiático , China , Preservativos , Estudos Transversais , Infecções por HIV/patologia , Humanos , Masculino , Razão de Chances , Assunção de Riscos , Inquéritos e Questionários , Adulto Jovem
11.
Medicine (Baltimore) ; 99(41): e22529, 2020 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-33031295

RESUMO

BACKGROUND: Reduction malarplasty is a routine clinical procedure among Asian women, but the traditional surgical methods are still associated with serious complications, such as nonunion of the osteotomy sites. Revisional surgery to correct such complications is common, but poor bone healing in the osteotomy area presents a challenge to plastic surgeons. In this report, the authors present a new technique for revision malarplasty that uses the piezosurgery (piezoelectric bone surgery) approach. PATIENT AND DIAGNOSIS: A 30-year-old female patient underwent reduction malarplasty with titanium plate fixation in the zygomatic region at another hospital 4 years ago, but the root of the zygomatic arch was not fixed. The patient was diagnosed with bone nonunion, facial asymmetry, and soft tissue sagging on the right side of the face after malarplasty. INTERVENTION: We used piezosurgery to truncate the displaced healed broken end of the zygomatic bone according to the original osteotomy line. Following this, the malar was re-fixed with micro-titanium mesh, and the zygomatic arch was fixed with a titanium plate. OUTCOME: The patient was followed up for 11 months after the revision procedure. Her facial appearance was satisfactory, and no complications were observed on computed tomography images. LESSONS: This report presents a novel therapeutic option for surgical revision of failed malarplasty. Piezosurgery can help overcome the limitations of traditional surgical methods by reducing bone resorption, preventing resorption of the bone in revision malarplasty, modifying the degree of inward and upward movement of the zygomatic bone by facilitating adjustment of the position of the drill hole in the cortex of the bone stump for stable fixation. Hence piezosurgery can be a simple, accurate, and non-invasive osteotomy method for revision malarplasty.


Assuntos
Assimetria Facial/cirurgia , Piezocirurgia , Complicações Pós-Operatórias/cirurgia , Zigoma/cirurgia , Adulto , Grupo com Ancestrais do Continente Asiático , Placas Ósseas , Feminino , Humanos , Osteotomia , Procedimentos Cirúrgicos Reconstrutivos , Reoperação
12.
J Med Internet Res ; 22(10): e19684, 2020 10 09.
Artigo em Inglês | MEDLINE | ID: mdl-33006940

RESUMO

BACKGROUND: Since its outbreak in January 2020, COVID-19 has quickly spread worldwide and has become a global pandemic. Social media platforms have been recognized as important tools for health-promoting practices in public health, and the use of social media is widespread among the public. However, little is known about the effects of social media use on health promotion during a pandemic such as COVID-19. OBJECTIVE: In this study, we aimed to explore the predictive role of social media use on public preventive behaviors in China during the COVID-19 pandemic and how disease knowledge and eHealth literacy moderated the relationship between social media use and preventive behaviors. METHODS: A national web-based cross-sectional survey was conducted by a proportionate probability sampling among 802 Chinese internet users ("netizens") in February 2020. Descriptive statistics, Pearson correlations, and hierarchical multiple regressions were employed to examine and explore the relationships among all the variables. RESULTS: Almost half the 802 study participants were male (416, 51.9%), and the average age of the participants was 32.65 years. Most of the 802 participants had high education levels (624, 77.7%), had high income >¥5000 (US $736.29) (525, 65.3%), were married (496, 61.8%), and were in good health (486, 60.6%). The average time of social media use was approximately 2 to 3 hours per day (mean 2.34 hours, SD 1.11), and the most frequently used media types were public social media (mean score 4.49/5, SD 0.78) and aggregated social media (mean score 4.07/5, SD 1.07). Social media use frequency (ß=.20, P<.001) rather than time significantly predicted preventive behaviors for COVID-19. Respondents were also equipped with high levels of disease knowledge (mean score 8.15/10, SD 1.43) and eHealth literacy (mean score 3.79/5, SD 0.59). Disease knowledge (ß=.11, P=.001) and eHealth literacy (ß=.27, P<.001) were also significant predictors of preventive behaviors. Furthermore, eHealth literacy (P=.038) and disease knowledge (P=.03) positively moderated the relationship between social media use frequency and preventive behaviors, while eHealth literacy (ß=.07) affected this relationship positively and disease knowledge (ß=-.07) affected it negatively. Different social media types differed in predicting an individual's preventive behaviors for COVID-19. Aggregated social media (ß=.22, P<.001) was the best predictor, followed by public social media (ß=.14, P<.001) and professional social media (ß=.11, P=.002). However, official social media (ß=.02, P=.597) was an insignificant predictor. CONCLUSIONS: Social media is an effective tool to promote behaviors to prevent COVID-19 among the public. Health literacy is essential for promotion of individual health and influences the extent to which the public engages in preventive behaviors during a pandemic. Our results not only enrich the theoretical paradigm of public health management and health communication but also have practical implications in pandemic control for China and other countries.


Assuntos
Infecções por Coronavirus/epidemiologia , Comportamentos Relacionados com a Saúde , Conhecimentos, Atitudes e Prática em Saúde , Letramento em Saúde/estatística & dados numéricos , Inquéritos Epidemiológicos , Pneumonia Viral/epidemiologia , Mídias Sociais , Telemedicina/estatística & dados numéricos , Adulto , Grupo com Ancestrais do Continente Asiático/psicologia , Betacoronavirus , China/epidemiologia , Estudos Transversais , Feminino , Comunicação em Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Amostragem , Adulto Jovem
13.
Medicine (Baltimore) ; 99(35): e21888, 2020 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-32871918

RESUMO

Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with considerable genetic predisposition. Nucleotide-binding oligomerization domain-like receptor family pyrin domain-containing protein 3 (NLRP3) is crucial for the innate immunity and implicated in SLE pathogenesis. Accordingly, we conducted a case-control study to find the association of NLRP3 variations with SLE susceptibility and disease activity.Three single nucleotide polymorphisms of NLRP3 (rs3806268, rs4612666, and rs10754558) were genotyped in 400 SLE patients and 400 healthy controls; the patients were further divided into mild-to-moderate or high disease activity subgroup. Serum cytokines, complements, and autoantibodies were also detected.We found that rs4612666 TT genotype conferred a higher risk of severe disease activity with adjusted odds ratio = 2.08, P = .02 and adjusted odds ratio  = 2.34, P = .01 in the codominant and recessive model, respectively. Nevertheless, there was no association between the 3 single nucleotide polymorphisms of NLRP3 gene and SLE susceptibility. In addition, C4 decreased significantly in rs3806268 GG (P < .001) and rs4612666 TT genotype carriers (P = .03). A higher trend of interleukin-1ß and interleukin-γ release were identified in rs3806268 AA and rs10754558 CC genotype carriers, respectively.NLRP3 polymorphisms are associated with SLE disease activity and hypocomplementemia. Interleukin-1ß and interleukin-γ levels in SLE patients are correlated with NLRP3 variants as well.


Assuntos
Predisposição Genética para Doença , Lúpus Eritematoso Sistêmico/genética , Proteína 3 que Contém Domínio de Pirina da Família NLR/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Biomarcadores/sangue , Estudos de Casos e Controles , Complemento C4/metabolismo , Feminino , Estudos de Associação Genética , Humanos , Subunidade gama Comum de Receptores de Interleucina/sangue , Interleucina-1beta/sangue , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Pessoa de Meia-Idade , Fator de Necrose Tumoral alfa/sangue , Adulto Jovem
14.
Medicine (Baltimore) ; 99(35): e21558, 2020 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-32871871

RESUMO

BACKGROUND: As indicated by numerous studies, there exists a relationship between the polymorphism of methylenetetrahydrofolate reductase (MTHFR) and susceptibility to diabetic nephropathy (DN) in various populations; nonetheless, the findings remain inconsistent. Therefore, we carried out a meta-analysis to determine the relationship between the MTHFR gene polymorphism and DN susceptibility. MATERIALS AND METHOD: Related studies were identified from PubMed, Cochrane Library, EMBASE, and the China National Knowledge Infrastructure database (time period: from building the library to October 2019). The strength of the association was examined using odds ratios (ORs) with 95% confidence intervals (95% CIs). RESULTS: The findings illustrated that the C677T gene polymorphism was significantly associated with an enhanced susceptibility to DN compared to that with diabetes mellitus in allelic (OR = 1.64, 95% CI = 1.34-2.00, P < .001), dominant (OR = 1.85, 95% CI = 1.40-2.46, P < .001), codominant (heterozygote: OR = 1.67, 95% CI = 1.27-2.21, P < .001; homozygote: OR = 2.55, 95% CI = 1.82-3.57, P < .001), and recessive (OR = 1.89, 95% CI = 1.50-2.38, P < .001) models of the overall population. Moreover, as compared with the healthy controls, a significantly augmented susceptibility to DN was found in all 5 genetic comparison models (allelic: OR = 2.06, 95% CI = 1.58-2.67, P < .001; dominant: OR = 2.52, 95% CI = 1.73-3.69, P < .001; codominant: OR = 3.78, 95% CI = 2.50-5.70, P < .001; recessive: OR = 2.41, 95% CI = 1.96-2.97, P < .001). Furthermore, stratifying data by ethnicity revealed substantially augmented vulnerability to DN in not only Caucasian but also Asian populations. CONCLUSION: The present study suggests that the C677T polymorphism was associated with an augmented susceptibility to DN.


Assuntos
Diabetes Mellitus Tipo 2/complicações , Nefropatias Diabéticas/epidemiologia , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo de Nucleotídeo Único/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China/epidemiologia , Diabetes Mellitus Tipo 2/genética , Nefropatias Diabéticas/etiologia , Nefropatias Diabéticas/genética , Grupo com Ancestrais do Continente Europeu/genética , Predisposição Genética para Doença , Humanos , Fatores de Risco
15.
Medicine (Baltimore) ; 99(35): e21945, 2020 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-32871941

RESUMO

An association between pulmonary and cardiovascular impairment has been reported, but studies are lacking that focus on individuals without advanced impairment in the pulmonary or cardiovascular system. We aimed to investigate the relationship between myocardial microdamage and reduced pulmonary function in the Japanese population without a history of cardiopulmonary disease and to assess whether oxidative stress links the 2 features.We enrolled patients undergoing an annual health check-up and measured serum high-sensitivity cardiac troponin I (hs-cTnI) and derivatives of reactive oxygen metabolites (d-ROM) to evaluate myocardial microdamage and oxidative stress. To assess pulmonary function, we calculated forced vital capacity as a percentage of predicted value, forced expiratory volume in 1 second as a percentage of predicted value, and the ratio of forced expiratory volume in 1 second to forced vital capacity. Possible associations between each parameter of pulmonary function, hs-cTnI, and d-ROM were cross-sectionally investigated.The study included 1265 participants (57 ±â€Š12 years). In multivariate regression analysis, the forced vital capacity as a percentage of predicted value was inversely associated with hs-cTnI levels after adjustment for possible confounders. In another multivariate model, all indices of pulmonary function were inversely correlated with d-ROM levels. We observed similar relationships in a multivariate regression model that included hs-cTnI and d-ROM simultaneously as independent variables. Levels of d-ROM and hs-cTnI also were significantly associated.These results highlight an inverse association of pulmonary function with hs-cTnI and d-ROM in the Japanese population without a history of cardiopulmonary disease. The findings suggest that in individuals without obvious cardiovascular and pulmonary diseases, reduced pulmonary function could reflect myocardial microdamage, at least in part through increased oxidative stress.


Assuntos
Cardiomiopatias/fisiopatologia , Volume Expiratório Forçado , Estresse Oxidativo , Troponina I/sangue , Idoso , Grupo com Ancestrais do Continente Asiático , Cardiomiopatias/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
16.
BMJ Open Respir Res ; 7(1)2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32873607

RESUMO

BACKGROUND: Studies suggest that certain black and Asian minority ethnic groups experience poorer outcomes from COVID-19, but these studies have not provided insight into potential reasons for this. We hypothesised that outcomes would be poorer for those of South Asian ethnicity hospitalised from a confirmed SARS-CoV-2 infection, once confounding factors, health-seeking behaviours and community demographics were considered, and that this might reflect a more aggressive disease course in these patients. METHODS: Patients with confirmed SARS-CoV-2 infection requiring admission to University Hospitals Birmingham NHS Foundation Trust (UHB) in Birmingham, UK between 10 March 2020 and 17 April 2020 were included. Standardised admission ratio (SAR) and standardised mortality ratio (SMR) were calculated using observed COVID-19 admissions/deaths and 2011 census data. Adjusted HR for mortality was estimated using Cox proportional hazard model adjusting and propensity score matching. RESULTS: All patients admitted to UHB with COVID-19 during the study period were included (2217 in total). 58% were male, 69.5% were white and the majority (80.2%) had comorbidities. 18.5% were of South Asian ethnicity, and these patients were more likely to be younger and have no comorbidities, but twice the prevalence of diabetes than white patients. SAR and SMR suggested more admissions and deaths in South Asian patients than would be predicted and they were more likely to present with severe disease despite no delay in presentation since symptom onset. South Asian ethnicity was associated with an increased risk of death, both by Cox regression (HR 1.4, 95% CI 1.2 to 1.8), after adjusting for age, sex, deprivation and comorbidities, and by propensity score matching, matching for the same factors but categorising ethnicity into South Asian or not (HR 1.3, 95% CI 1.0 to 1.6). CONCLUSIONS: Those of South Asian ethnicity appear at risk of worse COVID-19 outcomes. Further studies need to establish the underlying mechanistic pathways.


Assuntos
Grupo com Ancestrais do Continente Asiático/estatística & dados numéricos , Betacoronavirus/isolamento & purificação , Infecções por Coronavirus , Hospitalização/estatística & dados numéricos , Mortalidade/etnologia , Pandemias , Pneumonia Viral , Estudos de Coortes , Comorbidade , Infecções por Coronavirus/etnologia , Infecções por Coronavirus/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Pneumonia Viral/etnologia , Pneumonia Viral/terapia , Modelos de Riscos Proporcionais , Fatores de Risco , Índice de Gravidade de Doença , Reino Unido/epidemiologia
17.
Medicine (Baltimore) ; 99(33): e21121, 2020 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-32871981

RESUMO

BACKGROUD: Mycophenolate mofetil (MMF) has been recommended for the treatment of lupus nephritis (LN). Although inter-racial differences exist regarding the appropriate dose and efficacy of MMF in patients with LN, no definitive meta-analysis has yet been conducted in Chinese patients. This analysis investigated the efficacy and safety of MMF in Chinese patients with proliferative LN. METHODS: A systematic literature search was conducted to select randomized controlled trials that reported at least one of the following: complete remission (CR), partial remission, total remission (TR; defined as complete remission + partial remission), relapse rate, serum creatinine, creatinine clearance, end-stage renal disease, death, infections, amenorrhea, leukopenia, alopecia, gastrointestinal symptoms, or liver damage. RESULTS: Eighteen trials (927 patients) were included; 14 (750 patients) reported CR, partial remission, and TR. Two trials (58 patients) reported relapse rates during maintenance treatment. MMF induction significantly improved CR and TR vs cyclophosphamide (relative risk 1.34, 95% confidence interval: 1.13-1.58; P < .001; relative risk 1.16, 95% confidence interval: 1.02-1.33; P = .03), and was associated with significantly lower risks of infection (P < .001), amenorrhea (P < .001), leukopenia, and alopecia. No significant difference in relapse rate was evident between the MMF and azathioprine groups (P = .66). CONCLUSION: According to this meta-analysis of 18 trials, MMF is significantly more effective than cyclophosphamide induction, and is associated with reduced incidences of infections, amenorrhea, leukopenia, and alopecia in Chinese patients with proliferative LN.


Assuntos
Inibidores Enzimáticos/uso terapêutico , Nefrite Lúpica/tratamento farmacológico , Nefrite Lúpica/etnologia , Ácido Micofenólico/uso terapêutico , Grupo com Ancestrais do Continente Asiático , China , Ciclofosfamida/efeitos adversos , Ciclofosfamida/uso terapêutico , Inibidores Enzimáticos/efeitos adversos , Humanos , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Ácido Micofenólico/efeitos adversos , Ensaios Clínicos Controlados Aleatórios como Assunto
18.
Artigo em Inglês | MEDLINE | ID: mdl-32993005

RESUMO

Background: Anecdotal reports suggest a rise in anti-Asian racial attitudes and discrimination in response to COVID-19. Racism can have significant social, economic, and health impacts, but there has been little systematic investigation of increases in anti-Asian prejudice. Methods: We utilized Twitter's Streaming Application Programming Interface (API) to collect 3,377,295 U.S. race-related tweets from November 2019-June 2020. Sentiment analysis was performed using support vector machine (SVM), a supervised machine learning model. Accuracy for identifying negative sentiments, comparing the machine learning model to manually labeled tweets was 91%. We investigated changes in racial sentiment before and following the emergence of COVID-19. Results: The proportion of negative tweets referencing Asians increased by 68.4% (from 9.79% in November to 16.49% in March). In contrast, the proportion of negative tweets referencing other racial/ethnic minorities (Blacks and Latinx) remained relatively stable during this time period, declining less than 1% for tweets referencing Blacks and increasing by 2% for tweets referencing Latinx. Common themes that emerged during the content analysis of a random subsample of 3300 tweets included: racism and blame (20%), anti-racism (20%), and daily life impact (27%). Conclusion: Social media data can be used to provide timely information to investigate shifts in area-level racial sentiment.


Assuntos
Infecções por Coronavirus/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Pneumonia Viral/psicologia , Racismo/estatística & dados numéricos , Mídias Sociais , Grupo com Ancestrais do Continente Asiático , Betacoronavirus , Humanos , Pandemias , Aprendizado de Máquina Supervisionado , Máquina de Vetores de Suporte , Estados Unidos
19.
Value Health ; 23(9): 1171-1179, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32940235

RESUMO

OBJECTIVES: To evaluate cost-effectiveness of a novel screening strategy using a microRNA (miRNA) blood test as a screen, followed by endoscopy for diagnosis confirmation in a 3-yearly population screening program for gastric cancer. METHODS: A Markov cohort model has been developed in Microsoft Excel 2016 for the population identified to be at intermediate risk (Singaporean men, aged 50-75 years with Chinese ethnicity). The interventions compared were (1) initial screening using miRNA test followed by endoscopy for test-positive individuals and a 3-yearly follow-up screening for test-negative individuals (proposed strategy), and (2) no screening with gastric cancer being diagnosed clinically (current practice). The model was evaluated for 25 years with a healthcare perspective and accounted for test characteristics, compliance, disease progression, cancer recurrence, costs, utilities, and mortality. The outcomes measured included incremental cost-effectiveness ratios, cancer stage at diagnosis, and thresholds for significant variables. RESULTS: The miRNA-based screening was found to be cost-effective with an incremental cost-effectiveness ratio of $40 971/quality-adjusted life-year. Key drivers included test costs, test accuracy, cancer incidence, and recurrence risk. Threshold analysis highlights the need for high accuracy of miRNA tests (threshold sensitivity: 68%; threshold specificity: 77%). A perfect compliance to screening would double the cancer diagnosis in early stages compared to the current practice. Probabilistic sensitivity analysis reported the miRNA-based screening to be cost-effective in >95% of iterations for a willingness to pay of $70 000/quality-adjusted life-year (approximately equivalent to 1 gross domestic product/capita) CONCLUSIONS: The miRNA-based screening intervention was found to be cost-effective and is expected to contribute immensely in early diagnosis of cancer by improving screening compliance.


Assuntos
Detecção Precoce de Câncer/economia , Endoscopia/economia , Programas de Rastreamento/economia , MicroRNAs/economia , Neoplasias Gástricas/diagnóstico , Idoso , Grupo com Ancestrais do Continente Asiático , Análise Custo-Benefício , Detecção Precoce de Câncer/métodos , Humanos , Estudos Longitudinais , Masculino , Programas de Rastreamento/estatística & dados numéricos , MicroRNAs/sangue , Pessoa de Meia-Idade , Anos de Vida Ajustados por Qualidade de Vida , Medição de Risco , Sensibilidade e Especificidade , Singapura/epidemiologia , Neoplasias Gástricas/epidemiologia
20.
Nat Commun ; 11(1): 4779, 2020 09 22.
Artigo em Inglês | MEDLINE | ID: mdl-32963246

RESUMO

Highly reproducible smoking-associated DNA methylation changes in whole blood have been reported by many Epigenome-Wide-Association Studies (EWAS). These epigenetic alterations could have important implications for understanding and predicting the risk of smoking-related diseases. To this end, it is important to establish if these DNA methylation changes happen in all blood cell subtypes or if they are cell-type specific. Here, we apply a cell-type deconvolution algorithm to identify cell-type specific DNA methylation signals in seven large EWAS. We find that most of the highly reproducible smoking-associated hypomethylation signatures are more prominent in the myeloid lineage. A meta-analysis further identifies a myeloid-specific smoking-associated hypermethylation signature enriched for DNase Hypersensitive Sites in acute myeloid leukemia. These results may guide the design of future smoking EWAS and have important implications for our understanding of how smoking affects immune-cell subtypes and how this may influence the risk of smoking related diseases.


Assuntos
Metilação de DNA/efeitos dos fármacos , Epigenoma , Fumar/efeitos adversos , Algoritmos , Grupo com Ancestrais do Continente Asiático , Sangue , Ilhas de CpG , Epigenômica/métodos , Grupos Étnicos , Feminino , Humanos , Linfócitos , Masculino , Pessoa de Meia-Idade , Modelos Estatísticos , Células Mieloides
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA