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BACKGROUND: Large-scale multi-ethnic DNA sequencing data is increasingly available owing to decreasing cost of modern sequencing technologies. Inference of the population structure with such sequencing data is fundamentally important. However, the ultra-dimensionality and complicated linkage disequilibrium patterns across the whole genome make it challenging to infer population structure using traditional principal component analysis based methods and software. RESULTS: We present the ERStruct Python Package, which enables the inference of population structure using whole-genome sequencing data. By leveraging parallel computing and GPU acceleration, our package achieves significant improvements in the speed of matrix operations for large-scale data. Additionally, our package features adaptive data splitting capabilities to facilitate computation on GPUs with limited memory. CONCLUSION: Our Python package ERStruct is an efficient and user-friendly tool for estimating the number of top informative principal components that capture population structure from whole genome sequencing data.
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Genoma , Software , Sequenciamento Completo do Genoma , Análise de Sequência/métodos , Análise de Componente PrincipalRESUMO
In this article, we propose the eigen higher criticism and the eigen Berk-Jones testing procedures to test the association between a single genetic variant and multiple correlated traits based on summary statistics from single-trait genome-wide association studies. Since the association pattern between each genetic variant and multiple traits varies across the whole genome, we further develop an omnibus (OMNI) test using the aggregated Cauchy association test to achieve more robust performance. The p values of our proposed tests can be computed analytically, thus, our methods are appealing in large-scale multiple phenotype association studies. Through extensive simulation studies, we found that all of our proposed tests can maintain the correct type I error rates and our proposed tests have greater power in certain settings. In addition, the OMNI test can always provide robust power performance across a wide range of scenarios. We apply the proposed tests to the Global Lipids Genetics Consortium summary statistics data set and identify additional genetic variants that were missed by the original single-trait analyses. We also develop an R package EBMMT publicly available at https://github.com/Vivian-Liu-Wei64/EBMMT.
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Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Simulação por Computador , Estudo de Associação Genômica Ampla/métodos , Humanos , Modelos Genéticos , FenótipoRESUMO
MOTIVATION: DNA methylation is a biological process impacting the gene functions without changing the underlying DNA sequence. The DNA methylation machinery usually attaches methyl groups to some specific cytosine residues, which modify the chromatin architectures. Such modifications in the promoter regions will inactivate some tumor-suppressor genes. DNA methylation within the coding region may significantly reduce the transcription elongation efficiency. The gene function may be tuned through some cytosines are methylated. METHODS: This study hypothesizes that the overall methylation level across a gene may have a better association with the sample labels like diseases than the methylations of individual cytosines. The gene methylation level is formulated as a regression model using the methylation levels of all the cytosines within this gene. A comprehensive evaluation of various feature selection algorithms and classification algorithms is carried out between the gene-level and residue-level methylation levels. RESULTS: A comprehensive evaluation was conducted to compare the gene and cytosine methylation levels for their associations with the sample labels and classification performances. The unsupervised clustering was also improved using the gene methylation levels. Some genes demonstrated statistically significant associations with the class label, even when no residue-level methylation features have statistically significant associations with the class label. So in summary, the trained gene methylation levels improved various methylome-based machine learning models. Both methodology development of regression algorithms and experimental validation of the gene-level methylation biomarkers are worth of further investigations in the future studies. The source code, example data files and manual are available at http://www.healthinformaticslab.org/supp/.
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Metilação de DNA , Bases de Dados de Ácidos Nucleicos , Aprendizado de Máquina , Modelos Genéticos , HumanosRESUMO
Inference of population structure from genetic data plays an important role in population and medical genetics studies. With the advancement and decreasing cost of sequencing technology, the increasingly available whole genome sequencing data provide much richer information about the underlying population structure. The traditional method originally developed for array-based genotype data for computing and selecting top principal components (PCs) that capture population structure may not perform well on sequencing data for two reasons. First, the number of genetic variants p is much larger than the sample size n in sequencing data such that the sample-to-marker ratio n / p $n/p$ is nearly zero, violating the assumption of the Tracy-Widom test used in their method. Second, their method might not be able to handle the linkage disequilibrium well in sequencing data. To resolve those two practical issues, we propose a new method called ERStruct to determine the number of top informative PCs based on sequencing data. More specifically, we propose to use the ratio of consecutive eigenvalues as a more robust test statistic, and then we approximate its null distribution using modern random matrix theory. Both simulation studies and applications to two public data sets from the HapMap 3 and the 1000 Genomes Projects demonstrate the empirical performance of our ERStruct method.
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Genética Populacional , Polimorfismo de Nucleotídeo Único , Genótipo , Simulação por Computador , Sequenciamento Completo do GenomaRESUMO
Chemotherapy is a commonly utilized treatment strategy for colon cancer, a prevalent malignancy. The study intends to probe the function and mechanism of protocadherin 7 (PCDH7) in colon cancer. Gain or loss of functional assays of PCDH7 was performed. MTT and colony formation assay monitored cell proliferation. Transwell measured migration and invasion. Real-time quantitative polymerase chain reaction and western blot verified the profiles of PCDH7 and the MEK1/2/ERK/c-FOS pathway. Western blot was implemented to confirm the profiles of PP1α, MLC2, and p-MLC2 for evaluating the impact of PCDH7 on homotypic cells in cell (hocic) structures. Further, an in-vivo nude mouse model was engineered to figure out the function and mechanism of PCDH7 in tumor cell growth. As indicated by the data, PCDH7 knockdown boosted the cells' sensitivity to chemotherapy. PCDH7 overexpression facilitated their proliferation and invasion, altered autophagy, induced ferroptosis and hocic, and initiated the profile of the MEK1/2/ERK/c-FOS pathway. MEK1/2/ERK inhibition impaired the inhibitory impact of PCDH7 on colon cancer cells' chemotherapy sensitivity and dampened its pro-cancer function in the cells. In-vivo experiments displayed that PCDH7 overexpression stepped up tumor growth and pulmonary metastasis in colon cancer cells. All in all, the research has discovered that PCDH7 knockdown affects autophagy and induces ferroptosis, hence strengthening colon cancer cells' sensitivity to chemotherapy by repressing the MEK1/2/ERK/c-FOS axis.
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Autofagia , Neoplasias do Colo , Ferroptose , Animais , Camundongos , Autofagia/efeitos dos fármacos , Autofagia/genética , Linhagem Celular Tumoral , Movimento Celular , Proliferação de Células , Neoplasias do Colo/tratamento farmacológico , Neoplasias do Colo/genética , Ferroptose/efeitos dos fármacos , Ferroptose/genética , Regulação Neoplásica da Expressão Gênica , Camundongos Nus , MAP Quinase Quinase Quinases/metabolismo , Quinases de Proteína Quinase Ativadas por Mitógeno/metabolismo , Proteínas Proto-Oncogênicas c-fos/metabolismo , Protocaderinas/genéticaRESUMO
Metabolic syndrome (MetS), a cluster of metabolic disturbances that increase the risk for cardiovascular disease and diabetes, was because of genetic susceptibility and environmental risk factors. To identify the genetic variants associated with MetS and metabolic components, we conducted a genome-wide association study followed by replications in totally 12,720 participants from the north, north-eastern and eastern China. In combined analyses, independent of the top known signal at rs651821 on APOA5, we newly identified a secondary triglyceride-associated signal at rs180326 on BUD13 (Pcombined = 2.4 × 10-8 ). Notably, by an integrated analysis of the genotypes and the serum levels of APOA5, BUD13 and triglyceride, we observed that BUD13 was another potential mediator, besides APOA5, of the association between rs651821 and serum triglyceride. rs671 (ALDH2), an east Asian-specific common variant, was found to be associated with MetS (Pcombined = 9.7 × 10-22 ) in Han Chinese. The effects of rs671 on metabolic components were more prominent in drinkers than in non-drinkers. The replicated loci provided information on the genetic basis and mechanisms of MetS and metabolic components in Han Chinese.
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Aldeído-Desidrogenase Mitocondrial/genética , Apolipoproteína A-V/genética , Síndrome Metabólica/genética , Proteínas de Ligação a RNA/genética , Adulto , Consumo de Bebidas Alcoólicas/genética , Consumo de Bebidas Alcoólicas/patologia , Alelos , China , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Masculino , Síndrome Metabólica/patologia , Polimorfismo de Nucleotídeo Único , Triglicerídeos/sangue , Triglicerídeos/genéticaRESUMO
OBJECTIVES: The purpose of this study was to examine the associations between genetic variations in the Protocadherin 15 gene (PCDH15) and the risk to noise induced hearing loss (NIHL) in a Chinese population. METHODS: A case-control study was conducted with 476 noise-sensitive workers (NIHL) and 475 noise-resistant workers (normal) matched for gender, years of noise exposure, and intensity of noise exposure. 13 tag single-nucleotide polymorphisms in PCDH15 were genotyped using nanofluidic dynamic arrays on the Fluidigm platform. Multiple logistic regression was used to analyze the associations of genetic variations of PCDH15 with NIHL adjusted by age, smoking/drinking status, and cumulative noise exposure and their interactions with noise exposure. RESULTS: The allele frequency and genotypes of rs1104085 were significantly associated with the risk of NIHL(P=0.009 and 0.005 respectively ). The subjects carrying variant alleles (CT or CC) of rs11004085 had a decreased the risk for NIHL (adjusted odds ratio=0.587, 95% confidence interval 0.409-0.842) compared with subjects who had the wild-type (TT) homozygotes. The interactions were found between the SNPs of rs1100085, rs10825122, rs1930146, rs2384437, rs4540756, and rs2384375 and noise exposure. CONCLUSIONS: Genetic variations of PCDH15 and their interactions with occupational noise exposure are associated with genetic susceptibility to NIHL and modify the risk of noise induced hearing loss.
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Caderinas/genética , Perda Auditiva Provocada por Ruído/epidemiologia , Perda Auditiva Provocada por Ruído/genética , Exposição Ocupacional , Polimorfismo de Nucleotídeo Único/genética , Fatores Etários , Consumo de Bebidas Alcoólicas , Proteínas Relacionadas a Caderinas , China/epidemiologia , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Humanos , Modelos Logísticos , Masculino , Razão de Chances , FumarRESUMO
Pityriasis rosea (PR) is a common inflammatory, erythematous and scaly skin condition that usually affects individuals aged from 20 to 40 years old. The disease often exhibits a self-limiting course up to 6-8 weeks. We report a 25-year-old female patient with a six-month history of red scaly rashes on the trunk and proximal limbs, accompanied by severe pruritus that has been remained ineffective conventional treatments. She was diagnosed as persistent pityriasis rosea. As abrocitinib has been proved to be effective for many inflammatory diseases, therefore in this case, we tried abrocitinib for the patient, and a good result had been achieved.
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With the widespread use of the 13-valent pneumonia vaccine (PCV13) in China, monitoring adverse events following immunization (AEFIs) is critical. We conducted a descriptive analysis of the AEFI occurrences reported within Hangzhou between the years 2020 and 2023, including the temporal trend of case reports and variables such as sex, age, type of PCV13, dose number, type of reporter, cause-specific classification, severity, and onset from vaccination. Vaccine safety signals were analyzed using reporting odds ratios (RORs). Over the 4 years analyzed in the study, 2564 AEFI cases were reported, including seven severe cases. Most AEFIs occurred within 0-1 days after vaccination (2398, 93.53%), with over half affecting infants aged 1.5-6 months of age. No statistically significant difference was observed between PCV13-TT and PCV-CRM197. Seasonal differences in AEFI reports were noted. Positive signals were detected for fever (ROR-1.96SE: 1.64) and persistent crying (ROR-1.96SE: 1.61). Four serious AEFI cases were coincidental events, while three others were considered vaccine-related cases (including one case each of allergic reaction, febrile seizure, and thrombocytopenia). The safety and tolerability of PCV13 are good, and attention should be paid to severe AEFIs, as well as long-term safety disparities between different types of PCV13.
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Drug Target Interaction (DTI) prediction plays a crucial role in in-silico drug discovery, especially for deep learning (DL) models. Along this line, existing methods usually first extract features from drugs and target proteins, and use drug-target pairs to train DL models. However, these DL-based methods essentially rely on similar structures and patterns defined by the homologous proteins from a large amount of data. When few drug-target interactions are known for a newly discovered protein and its homologous proteins, prediction performance can suffer notable reduction. In this paper, we propose a novel Protein-Context enhanced Master/Slave Framework (PCMS), for zero-shot DTI prediction. This framework facilitates the efficient discovery of ligands for newly discovered target proteins, addressing the challenge of predicting interactions without prior data. Specifically, the PCMS framework consists of two main components: a Master Learner and a Slave Learner. The Master Learner first learns the target protein context information, and then adaptively generates the corresponding parameters for the Slave Learner. The Slave Learner then perform zero-shot DTI prediction in different protein contexts. Extensive experiments verify the effectiveness of our PCMS compared to state-of-the-art methods in various metrics on two public datasets. The Code and the processed Data will be open once the paper is accepted.
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BACKGROUND: Vaccination could provide effective protection against coronavirus disease 2019 (COVID-19). This study aims to describe the COVID-19 vaccination coverage and influential factors in Chinese older hypertensive patients. METHODS: Using a cross-sectional design, participants were randomly selected from the electronic health records system during the pandemic era in Hangzhou, China. Logistic regression models were employed to compute the OR and 95% CI in order to assess the relationships between variables and the extent of COVID-19 vaccination coverage. RESULTS: As of 3 August 2022, among a sample of 77 970 individuals, 75.11% had completed the full COVID-19 vaccination, while 57.66% had received a booster dose. Disparities in coverage were observed across genders, regions and age groups. Unhealthy lifestyles, cardiovascular disease, cancer, uncontrolled blood pressure, abnormal fasting plasma glucose, dyslipidemia and renal dysfunction were risk factors for COVID-19 vaccination coverage. The coverage rates continuously declined along with the number of risk factors. The ORs for full and booster vaccination in subjects with ≥4 risk factors were 2.55 (2.12â¼3.07) and 2.60 (2.16â¼3.13), compared to individuals without risk factors. CONCLUSION: The COVID-19 vaccination program for older hypertensive patients must be strengthened further. Emphasis should be placed on patients who reside in urban areas, have comorbidities or multiple risk factors.
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Background: The DTaP-Hib and DTaP-IPV/Hib combination vaccine can be used as a substitute for the diphtheria, tetanus, and acellular pertussis combined vaccine (DTaP). We aimed to evaluate the safety of multi-component vaccines containing DTaP by analyzing the reporting rates and characteristics of adverse events following immunization (AEFIs) in Linping District during the years 2019 to 2022. Methods: We obtained data of AEFI and vaccination from the National AEFI Surveillance System of China and Zhejiang Municipal Immunization Information Management System, respectively, during 2019-2022 for a descriptive, epidemiological analysis. Results: The total number of AEFI reported following vaccinations with DTaP-containing combination vaccines was 802 in Linping District from 2019 to 2022. The overall reporting rates of AEFIs following DTaP, DTaP-Hib, and DTaP-IPV/Hib vaccinations were 445.72 (537 cases), 536.29 (45 cases), and 306.13 (220 cases) per 100,000 doses in Linping District from 2019 to 2022, respectively. Only one case of a serious AEFI following DTaP vaccination, with a reporting rate of 0.83 per 100,000 doses. The composition ratio of vaccine product-related reactions for DTaP, DTaP-Hib, and DTaP-IPV/Hib were 99.81, 97.78, and 100.00%, respectively. The composition ratio of coincidental events for DTaP and DTaP-Hib were 0.19 and 2.22%, respectively. The reporting rates of total AEFIs for DTaP-IPV/Hib were lower than for DTaP. The reporting rate of local induration for DTaP-Hib was lower than for DTaP, and the reporting rates of local redness & swelling and local induration for DTaP-IPV/Hib were both lower than for DTaP. DTaP-IPV/Hib had a higher proportion of AEFIs in first quarter compared to DTaP. The reporting rate after the second dose of DTaP-Hib was higher than that of DTaP, and the reporting rates of AEFIs after the first dose and third dose of DTaP-IPV/Hib were lower than DTaP. Conclusion: The reported AEFIs to multi-component vaccines containing DTaP components during 2019-2022 in Linping District were mainly mild vaccine reactions. DTaP-containing combination vaccines demonstrated a good safety profile.
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Vacinas contra Difteria, Tétano e Coqueluche Acelular , China/epidemiologia , Vacinas contra Difteria, Tétano e Coqueluche Acelular/efeitos adversos , Imunização , Vacinação/efeitos adversos , Vacinas Combinadas/efeitos adversos , HumanosRESUMO
The "reemergence of pertussis" has elicited international concerns, occurring paradoxically amidst the expansion of immunization programs. This study was aimed to evaluate quantitatively the economic burden and identify the determinants that influence the cost associated with treating pertussis in Chinese children. We evaluated the economic burden by Chinese children diagnosed with pertussis at the Children's Hospital, Zhejiang University School of Medicine in 2022. Direct medical expenses and the utilization of medical resources attributed to pertussis were calculated. A generalized linear regression model was applied to analyze the determinants that were associated with the direct medical expenses among patients. Among the 1110 pertussis patients included in the study, 1060 were outpatients and 50 were inpatients. The average direct medical cost was ¥1878.70(i.e. $279.33). Living in urban areas (OR:1.27, p = .04), complications (OR:1.40, p < .001), hospitalization (OR:10.04, p < .001), and ≥ 3 medical visits (OR:3.71, p < .001) were associated with increased direct medical expenses. Having received four doses of the pertussis vaccine was associated with reduced direct medical expenses (OR:0.81, p = .04). This study underscores a substantial economic burden of pertussis in Hangzhou, with pronounced implications for patients residing in urban areas, experiencing complications, requiring hospitalization, having multiple medical consultations, or lacking comprehensive pertussis vaccination.
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Efeitos Psicossociais da Doença , Custos de Cuidados de Saúde , Hospitalização , Vacina contra Coqueluche , Coqueluche , Humanos , Coqueluche/economia , Coqueluche/epidemiologia , Coqueluche/prevenção & controle , China/epidemiologia , Masculino , Feminino , Pré-Escolar , Lactente , Criança , Vacina contra Coqueluche/economia , Vacina contra Coqueluche/administração & dosagem , Custos de Cuidados de Saúde/estatística & dados numéricos , Hospitalização/economia , Hospitalização/estatística & dados numéricos , Adolescente , Vacinação/economiaRESUMO
Introduction: The Haemophilus influenzae type b (Hib) conjugate vaccine is widely administered in China. Methods: We extracted data on Hib vaccine doses administered and adverse events following immunization (AEFI) reported between 2010 and 2021 from the Chinese National Immunization Information System (CNIIS). A descriptive analysis was conducted to examine the characteristics and incidence rates of AEFI with the Hib vaccine. Results: In China, between 2010 and 2021, a total of 52,910 AEFIs with the Hib vaccine were reported, resulting in an overall AEFI reporting rate of 38.10 per 100,000 doses. Common (typically minor) and rare (potentially serious) vaccine reactions occurred at rates of 34.71 and 2.78 per 100,000 doses, respectively. Among the common vaccine reactions, the incidences of fever (axillary temperature ≥38.6 â), injection site redness and swelling (>2.5 cm in diameter), and injection site induration (>2.5 cm in diameter) were 11.93, 9.69, and 3.38 per 100,000 doses, respectively. Rare vaccine reactions included anaphylactic rash, angioedema, and febrile convulsion with reported incidences of 2.42, 0.10, and 0.05 per 100,000 doses, respectively. The incidence of serious rare vaccine reactions was 0.16 per 100,000 doses. Conclusions: The reported incidence of AEFI with the Hib vaccine was low, with the occurrence of serious rare adverse reactions also being markedly low throughout the period 2010-2021 in China.
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Background: Despite the widespread adoption of video-assisted thoracoscopic surgery (VATS) for major lung resection, the 10-year long-term survival outcomes of non-small cell lung cancer (NSCLC) treated with VATS compared with open major lung resection is lacking. The purpose of this study was to analyze the short- and long-term outcomes of VATS vs. open major lung resection for NSCLC. Methods: The perioperative outcomes and long-term survival of p-stage I-III NSCLC patients who underwent major lung resection via VATS vs. open major lung resection in the Western China Lung Cancer Database (WCLCD) between May 2006 and June 2018 were studied using propensity score matching (PSM). Results: Of the 10,167 patients who underwent surgery for lung malignancies, 6,405 patients with stage I-III NSCLC were included in the study, including 4,224 in the VATS group and 2,181 in the open group. PSM resulted in 1,487 patients in both the VATS and open groups. The patients were matched by patient demographics, Charlson comorbidity index (CCI), tumor histology and TNM stage. Compared with open surgery, major lung resection via VATS resulted in less blood loss (median: 50 vs. 100 mL, P<0.001) and a shorter postoperative hospital stay (7.6±6.0 vs. 8.6±4.9 days, P<0.001) but higher total hospital costs (52.5±21.2 vs. 45.0±16.4 kRMB, P<0.001). The matched cohort showed that patients who underwent major lung resection via VATS had better overall survival (OS) and recurrence-free survival (RFS) than did patients who underwent major lung resection via open surgery (5-year survival: 64.9% vs. 57.7%, P<0.001; 5-year RFS: 50.3% vs. 45.3%, P=0.003). Patients who underwent VATS had a better 10-year OS rate (47.8% vs. 42.6%). According to the subgroup analysis, patients with stage II NSCLC who underwent major lung resection via VATS had better OS and RFS (OS: P<0.001; RFS: P=0.004), while there were no significant differences in OS or RFS between stage I and III NSCLC patients. Conclusions: Major lung resection via the VATS should be the preferred surgical option for stage I-III NSCLC patients due to its superior long-term survival outcome and advantages of less blood loss and shorter postoperative hospital stays.
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The correct interpretation of breast density is important in the assessment of breast cancer risk. AI has been shown capable of accurately predicting breast density, however, due to the differences in imaging characteristics across mammography systems, models built using data from one system do not generalize well to other systems. Though federated learning (FL) has emerged as a way to improve the generalizability of AI without the need to share data, the best way to preserve features from all training data during FL is an active area of research. To explore FL methodology, the breast density classification FL challenge was hosted in partnership with the American College of Radiology, Harvard Medical Schools' Mass General Brigham, University of Colorado, NVIDIA, and the National Institutes of Health National Cancer Institute. Challenge participants were able to submit docker containers capable of implementing FL on three simulated medical facilities, each containing a unique large mammography dataset. The breast density FL challenge ran from June 15 to September 5, 2022, attracting seven finalists from around the world. The winning FL submission reached a linear kappa score of 0.653 on the challenge test data and 0.413 on an external testing dataset, scoring comparably to a model trained on the same data in a central location.
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Algoritmos , Densidade da Mama , Neoplasias da Mama , Mamografia , Humanos , Feminino , Mamografia/métodos , Neoplasias da Mama/diagnóstico por imagem , Aprendizado de MáquinaRESUMO
Purpose: Colon adenocarcinoma (COAD) is the second leading cause of death in the world, and the new incidence rate ranks third among all cancers. Abnormal DNA methylation is related to the occurrence and development of tumors. In this study, we aimed to identify genes associated with abnormal methylation in COAD. Methods: COAD transcriptome data, methylation data and clinical information were downloaded from the TCGA database and GEO database. The differentially expressed genes (DEGs) and methylated genes (DMGs) were analyzed and identified in COAD. PCA analysis was applied to divide COAD into subtypes, and the survival and immune cell infiltration of each subtype were evaluated. Cox and LASSO analyses were performed to construct COAD risk model. GSEA was used to evaluate the enrichment pathways. The Kaplan-Meier was used to analyze the difference in survival. ROC curve was plotted to evaluate the accuracy of the model, and GSE17536 was used to verify the accuracy of the risk model. The risk model is combined with the clinicopathological characteristics of COAD patients to perform multivariate Cox regression analysis to obtain independent risk factors and draw nomograms. Results: In total, 4564 DEGs and 1093 DMGs were screened, among which 298 were found to be overlapping genes. For 220 of these overlapping genes, the methylation was significantly negatively correlated to expression levels. An optimal signature from 4 methylated biomarkers was identified to construct the prognostic model. Conclusion: Our study identified 4 methylated biomarkers in the COAD. Then, we constructed the risk model to provide a theoretical basis and reference value for the research and treatment of COAD.
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Surgery is a crucial treatment option for patients with resectable esophageal cancer. The emergence of minimally invasive esophageal techniques has led to the popularity of video-assisted thoracoscopic esophagectomy, which has proven to be more advantageous than traditional thoracotomy. However, some patients with esophageal cancer may not benefit from this procedure. Individualized treatment plans may be necessary for patients with varying conditions and tolerances to anesthesia, making conventional surgical methods unsuitable. Inflatable video-assisted mediastinoscopic transhiatal esophagectomy (IVMTE) has emerged as a promising treatment option for esophageal cancer because it does not require one-lung ventilation, reduces postoperative complications, and expands surgical indications. This technique also provides surgical opportunities for patients with impaired pulmonary function or thoracic lesions. It is crucial to have a comprehensive understanding of the advancements and limitations of IVMTE to tailor treatment plans and improve outcomes in patients with esophageal cancer. Understanding the advantages and limitations of this surgical method will help specific patients with esophageal cancer. We conducted a thorough review of the relevant literature to examine the importance of IVMTE for individualized treatment of this disease.
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BACKGROUND: The SNP rs671 of Human aldehyde dehydrogenase (ALDH) is G-A transition at 1510th nucleotides, which is an important clinical indicator of alcoholic liver disease, digestive tract cancer and some drug efficiency. The commonly used genotyping assay of this polymorphism is relatively time-consuming and costly. FINDING: This study develops a rapid and accurate one-step CRISPR/Cas12b assay to distinguish the G1510A polymorphism of human ALDH2 free of DNA amplification. The method we established requires only one step of adding 1 µl genomic DNA sample to premixed system, and waiting for the acquisition of fluorescent signal, taking approximate 30 min. CONCLUSIONS: This method provides a potential tool for more accurate and reliable nucleic acid detection with a single base difference and supports the relevant disease diagnosis and personalized medicine.
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AIMS: This study aims to assess the effectiveness of COVID-19 vaccination against all-cause death in patients with type 2 diabetes mellitus (T2DM). METHODS: Subjects were patients with T2DM who were administered by general practitioner (GP). Use electronic exchange platform to obtain the information on COVID-19 vaccination, all-cause deaths and risk factors. Logistic regression models were used to calculate the odd ratio (OR) and 95% CI for the association between COVID-19 vaccination and mortality. The vaccine effectiveness (VE) was calculated as (1- adjusted OR) × 100%. RESULTS: A total of 26,916 subjects had 53.81%, 17.65%, and 23.43% coverage for the booster, full, and partial COVID-19 vaccination, reported 328 deaths and a mortality of 1.2%. The adjusted OR (95%CI) was 0.85(0.60-1.21) for those received partial vaccination, 0.31(0.22-0.43) for those received full vaccination, and 0.12(0.08-0.18) for those received booster vaccination, compared to the unvaccinated individuals. The VE (95%CI) was 88.00%(82.30-91.80) of booster vaccination, 69.30%(56.60-78.30) of full vaccination, and 17.60%(-17.10-42.00) of partial vaccination. CONCLUSION: COVID-19 vaccination could effectively prevent the all-cause death in patients with T2DM during the omicron variant outbreak period, after the cancellation of the "Dynamic Zero Policy" in mainland China.