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BACKGROUND: There is a lack of randomized clinical trials on whether the 6-French (Fr) Glidesheath Slender (GSS; Terumo, Tokyo, Japan) is superior to the 6-Fr conventional radial sheath (CS) with respect to the early-term incidence of distal radial artery occlusion (dRAO) in patients who have undergone coronary angiography (CAG) and/or percutaneous coronary intervention (PCI) via distal transradial access. METHODS: This was a prospective, single-centre trial of patients who were randomized to undergo CAG and/or PCI with either a 6-Fr GSS or a 6-Fr CS. The primary end point was the incidence of dRAO at 24 hours postoperatively, evaluated using Doppler ultrasound. RESULTS: A total of 620 patients were included in the study. The baseline patient and procedural characteristics were similar among the 2 groups. For the primary end point, the incidence of dRAO at 24 hours after the procedure was 1.0% (3/314) in the GSS group and 3.6% (11/306) in the CS group (risk ratio, 0.266; 95% confidence interval, 0.075-0.943; P = 0.027) according to the intention to treat analysis. For the secondary end points, the incidence of proximal radial artery occlusion was 0.3% (1/314) in the GSS group and 2.3% (7/306) in the CS group (P = 0.029). Other secondary end points, including the puncture success rate, procedural outcomes, other puncture-related outcomes, and access-related complications were not significantly different in the 2 groups. CONCLUSIONS: The use of a thin-walled and hydrophilic coating sheath can reduce the incidence of early-term dRAO in patients who undergo CAG and/or PCI via the distal transradial access. CLINICAL TRIAL REGISTRATION: NCT05501925.
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Objective:To study the characteristics of Mismatch negativityï¼MMNï¼ in normal hearing patients of different ages, and to compare the MMN of normal hearing subjects at different ages to explore the differences in MMN between different ages. Methods:MMN test was performed on both ears using the classic Oddball mode. A frequency of 1 000 Hzï¼standard stimuliï¼ and 2 000 Hzï¼deviant stimuliï¼ was used to evoked the MMN. According to different age groups: the juvenile groupï¼7-17 years oldï¼, the youth groupï¼18-44 years oldï¼, the middle-aged groupï¼45-59 years oldï¼, and the elderly groupï¼60-75 years oldï¼, with 25 cases in each group. The MMN characteristics of normal hearing subjects in different age groups were analyzed statistically and the differences between groups were compared. All subjects underwent pure tone threshold test, tympanic reactance test and ABR test before MMN test. Results:MMN waveform could be elicited from both ears of 100 subjects. Among them, the average latency of the juvenile group wasï¼159.70±20.34ï¼ ms while the average amplitude wasï¼4.34±2.26ï¼ µV, For the youth group, the average latency wasï¼166.01±28.67ï¼ ms and the average amplitude wasï¼3.70±2.28ï¼ µV. Then in the middle-aged group, the average latency wasï¼175.16±37.24ï¼ ms, meanwhile, the average amplitude wasï¼2.69±0.84ï¼ µV. Finally, the elderly group has an average latency ofï¼178.03±14.37ï¼ ms and an average amplitude ofï¼2.11±0.70ï¼ µV. Therefore, there was no statistical difference in latency and amplitude between all groupsï¼P>0.05ï¼, and there was no statistical difference in latency and amplitude between left and right ears among all subjects as a wholeï¼P>0.05ï¼. However, when the left and right ears of all groups were compared, it was found that the latency between the left and right ears of the Juvenile group had statistical significanceï¼P<0.05ï¼, and the amplitude difference was not statistically significantï¼P>0.05ï¼, while the latency and amplitude differences between the left and right ears of other groups had no statistical significanceï¼P>0.05ï¼. There were also no significant differences in latency and amplitude between men and womenï¼P>0.05ï¼. Conclusion:There was no statistically significant difference in the latency and amplitude of mismatched negative among normal hearing subjects of different ages, and no statistically significant difference in the MMN latency and amplitude between the left and right ears of subjects and between men and women. Therefore, the study inferred that the auditory cerebral cortex of subjects aged 7-75 years old maintained a stable state for a long time after maturity, and the latency and amplitude of mismatched negative waves were relatively stable. It is not affected by age, gender and ear side, and can stably reflect the auditory cortex function of the subjects. It has broad application prospects in clinical practice, and provides a reliable detection means for future research on the changes of the auditory cerebral cortex of patients, which is worthy of our further research and clinical promotion.
Sujet(s)
Cortex auditif , Ouïe , Mâle , Adulte d'âge moyen , Sujet âgé , Adolescent , Humains , Femelle , Enfant , Jeune adulte , Adulte , Ouïe/physiologie , Oreille moyenne , Potentiels évoqués auditifs/physiologie , Stimulation acoustiqueRÉSUMÉ
BACKGROUND: The distal transradial access (dTRA) has become an attractive and alternative access to the conventional transradial access (TRA) for cardiovascular interventional diagnosis and/or treatment. There was a lack of randomized clinical trials to evaluate the effect of the dTRA on the long-term radial artery occlusion (RAO). METHODS: This was a prospective, randomized controlled study. The primary endpoint was the incidence of long-term RAO at 3 months after discharge. The secondary endpoints included the successful puncture rate, puncture time, and other access-related complications. RESULTS: The incidence of long-term RAO was 0.8% (3/361) for dTRA and 3.3% (12/365) for TRA (risk ratio = 0.25, 95% confidence interval = 0.07-0.88, P = 0.02). The incidence of RAO at 24 h was significantly lower in the dTRA group than in the TRA group (2.5% vs. 6.7%, P < 0.01). The puncture success rate (96.0% vs. 98.5%, P = 0.03) and single puncture attempt (70.9% vs. 83.9%, P < 0.01) were significantly lower in the dTRA group than in the TRA group. However, the number of puncture attempts and puncture time were higher in the dTRA group. The dTRA group had a lower incidence of bleeding than the TRA group (1.5% vs. 6.0%, P < 0.01). There was no difference in the success rate of the procedure, total fluoroscopy time, or incidence of other access-related complications between the two groups. In the per-protocol analysis, the incidence of mEASY type ≥ II haematoma was significantly lower in the dTRA group, which was consistent with that in the as-treated analysis. CONCLUSIONS: The dTRA significantly reduced the incidence of long-term RAO, bleeding or haematoma. TRIAL REGISTRATION: ClinicalTrials.gov identifer: NCT05253820.
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Artériopathies oblitérantes , Intervention coronarienne percutanée , Humains , Artère radiale/chirurgie , Études prospectives , Artériopathies oblitérantes/imagerie diagnostique , Artériopathies oblitérantes/épidémiologie , Hémorragie , Hématome/étiologie , Hématome/complications , Coronarographie/effets indésirables , Coronarographie/méthodes , Intervention coronarienne percutanée/effets indésirables , Intervention coronarienne percutanée/méthodes , Résultat thérapeutiqueRÉSUMÉ
Photocatalytic coatings can degrade volatile organic compounds into non-toxic products, which has drawn the attention of scholars around the world. However, the pollution of dust on the coating adversely affects the photocatalytic efficiency and service life of the coating. Here, a series of TiO2-polyfluoroalkoxy (PFA) coatings with different contents of PFA were fabricated by suspension plasma spraying technology. The results demonstrate that the hybrid coatings contain a large number of circular and ellipsoidal nanoparticles and a porous micron-nano structure due to the inclusion of PFA. According to the optimized thermal spraying process parameters, TiO2 nanoparticles were partially melted to retain most of the anatase phases, whereas PFA did not undergo significant carbonization. As compared to the TiO2 coating, the static contact angle of the composite coating doped with 25 wt.% PFA increased from 28.2° to 134.1°. In addition, PFA strongly adsorbs methylene blue, resulting in a greater involvement of methylene blue molecules in the catalyst, where the catalytic rate of hybrid coatings is up to 95%. The presented nanocomposite coatings possess excellent photocatalytic and self-cleaning properties and are expected to find wider practical applications in the field of photocatalysis.
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With the discovery of many tumor markers, there are new strategies for the early diagnosis and treatment of lung cancer and the prediction of prognosis. We examined the multi-protein markers panel (4MP, consisting of Pro-SFTPB, CA125, Cyfra21-1, and CEA) diagnosis performance in differentiating benign and malignant lung diseases and identifying pathological types of lung cancer. Meantime, the complementary performance of three conventional tumor markers (NSE, SCC, and Pro-GRP) for 4MP was assessed. A total of 294 patients with lung cancer or benign lung disease are contained in this study. The AUCs of 4MP and 7MP (NSE, SCC, Pro-GRP, and 4MP) in distinguishing benign lung disease and lung cancer were 0.808 and 0.832, respectively. In distinguishing SQCLC and SCLC, the AUCs were 0.716 and 0.985, respectively. In distinguishing LADC and SCLC, the AUCs were 0.849 and 0.998, respectively. This study demonstrated that 4MP can distinguish lung cancer from benign disease. Traditional biomarkers NSE, SCC, and Pro-GRP can significantly improve the performance of 4MP in the differentiation of LADC, SQCLC, and SCLC, which is expected to contribute to the accurate diagnosis and personalized treatment of patients.
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Background: Gastric cancer is a common cancer worldwide and is responsible for over one million new cases in 2020 and an estimated 769,000 deaths, ranking fifth for incidence and fourth for mortality globally. Incidence rates are highest in Eastern Asia and Eastern Europe. Gastric cancer is highly heterogeneous and progresses rapidly. The prognosis of gastric cancer with liver metastases is poor, and clinical treatment remains challenging. Human epidermal growth factor receptor 2 (HER2) positivity is correlated to a bad prognosis for gastric cancer. Trastuzumab combined with systemic chemotherapy is the preferred treatment for HER2-positive advanced gastric cancer. However, intravenous chemotherapy has severe systemic toxicity, which reduces the local drug concentration and tumor uptake rate, and the effect is unsatisfactory. Case summary: We reported a 66-year-old patient with HER2-positive advanced gastric cancer with jaundice due to multiple liver metastases, after 6 cycles of trastuzumab combined with hepatic arterial infusion chemotherapy (HAIC), the tumor retracted significantly, the jaundice subsided, and the patient recovered well. The patient achieved disease control with an intensive regimen followed by less toxic maintenance therapy. Trastuzumab combined with capecitabine maintenance therapy followed up for more than 16 months. Conclusion: HAIC plus trastuzumab may be a tolerable treatment option for patients with severe liver metastases from HER2-positive gastric cancer to achieve local control and prolong survival.
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The study aimed to investigate the efficacy and safety of coronary intervention via distal transradial access (dTRA) in patients with low body mass index (BMI). A total of 67 patients with low BMI who underwent coronary intervention, comprising 29 patients via dTRA and 38 patients via conventional transradial access (cTRA), were retrospectively included. There was no significant difference in the puncture success rate between the two groups (dTRA 96.6%, cTRA 97.4%, P=0.846). Compared with the cTRA group, the success rate of one-needle puncture in the dTRA group was lower (51.7% vs. 81.6%, P=0.020). The compression haemostasis time in the dTRA group was shorter than that in the cTRA group (P < 0.001). However, the incidence of radial artery occlusion was lower in the dTRA group than in the cTRA group (4.0% vs. 33.3%, P=0.007). In conclusion, coronary intervention via dTRA was safe and effective in patients with low BMI.
Sujet(s)
Indice de masse corporelle , Intervention coronarienne percutanée , Artériopathies oblitérantes/épidémiologie , Humains , Intervention coronarienne percutanée/effets indésirables , Intervention coronarienne percutanée/méthodes , Ponctions , Artère radiale , Études rétrospectivesRÉSUMÉ
BACKGROUND: This study investigated the safety and efficacy of coronary angiography (CAG) and percutaneous coronary intervention (PCI) via distal transradial artery access (d-TRA). METHODS: For this single-centre prospective cohort study, a total of 1066 patients who underwent CAG or PCI procedures from September 2019 to November 2020 were included. Patients were divided into two groups: the d-TRA group (346) and the conventional transradial artery access (c-TRA) group (720) based on access site. A total of 342 pairs of patients were successfully matched using propensity score matching (PSM) for subsequent analysis. RESULTS: No significant differences in puncture success rate, procedural method, procedural time, sheath size, contrast dosage or fluoroscopy time were noted between the two groups. The puncture time in the d-TRA group was longer than that in the c-TRA group (P < 0.01), and the procedure success rate was lower than that in the c-TRA group (90.94% vs. 96.49%, P = 0.01). The haemostasis time in the d-TRA group was shorter than that in the c-TRA group (P < 0.01), and the visual analogue scale (VAS) was lower than that in the c-TRA group (P < 0.01). In addition, the prevalence of bleeding and haematoma in the d-TRA group was lower than that in the c-TRA group (1.75% vs. 7.31%, P < 0.01; 0.58% vs. 3.22%, P = 0.01, respectively). No significant difference in the incidence of numbness was noted between the two groups. No other complications were found in two groups. CONCLUSION: d-TRA is as safe and effective as c-TRA for CAG and PCI. It has the advantages of improved comfort and fewer complications. Trail registration Chinese Clinical Trial Registry, ChiCTR1900026519.
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Cathétérisme périphérique , Coronarographie , Intervention coronarienne percutanée , Cathétérisme périphérique/méthodes , Coronarographie/effets indésirables , Coronarographie/méthodes , Artère fémorale , Humains , Intervention coronarienne percutanée/effets indésirables , Intervention coronarienne percutanée/méthodes , Score de propension , Études prospectives , Artère radiale/imagerie diagnostique , Résultat thérapeutiqueRÉSUMÉ
PURPOSE: Radial artery occlusion (RAO) is one of the common complications after coronary intervention via the conventional radial artery approach. The purpose of the study was to explore the safety and feasibility of retrograde recanalization of the occluded radial artery via a distal radial artery (DRA) approach. METHODS: Combined with the practice of our centre and a literature review, we summarized the procedure of retrograde recanalization of RAO, success rate, and complications. RESULTS: A total of 14 of 15 patients with 15 pieces of occluded radial arteries were successfully recanalized via the DRA in our centre. In the 15 occluded vessels, 11 vessels (73.3%) had total occlusion and 4 vessels (26.7%) had functional occlusion. Four of 15 occluded vessels were acute occlusions. Two acute RAOs were only treated with aspiration via sheath, 11 RAOs with balloon angioplasty, and 2 RAOs with both, respectively. In 6 patients, cardiac catheterization was carried out via the DRA after recanalizing the RAO. A total of 10 studies reporting the results of recanalization of RAO via the DRA were systematically retrieved in the present study. In 3 case series, the number of cases was more than 5, and the success rate of recanalization was more than 85.7%. Two studies reported complications, including dissection in one case, hematoma in 2 cases, and pain in the forearm during angioplasty. CONCLUSIONS: Recanalization of the occluded radial artery via the DRA was safe and effective. When repeat cardiac catheterization was required, recanalization of the RAO and subsequent coronary angiography or intervention through the ipsilateral radial artery approach was feasible.
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Artériopathies oblitérantes , Artère radiale , Artériopathies oblitérantes/imagerie diagnostique , Artériopathies oblitérantes/thérapie , Cathétérisme cardiaque/effets indésirables , Cathétérisme cardiaque/méthodes , Coronarographie/effets indésirables , Coronarographie/méthodes , Humains , Artère radiale/imagerie diagnostique , Résultat thérapeutiqueRÉSUMÉ
INTRODUCTION: The current prognosis of hepatocellular carcinoma (HCC) is unsatisfactory due to high rates of recurrence and metastasis, which has led to research focused on the discovery of metastasis genes. METHODS: In this study, we combined in silico analysis and in vitro transwell experiments to identify a metastasis gene. Then, we used an in vivo experiment to validate the metastasis. Furthermore, a series of experiments such as FACS, Western blot, and ELISA were applied to explore the function of the metastasis gene. RESULTS: LTBP4 (latent transforming growth factor beta binding protein 4) was confirmed as a metastasis gene, whose expression levels are correlated with the overall survival rate of HCC patients. We further showed that the knockout of LTBP4 in an HCC cell line increased cell proliferation, activated the cell cycle, and induced metastasis events. Moreover, we proved that LTBP4-KO could increase the percentage of active TGFß1 secreted by HCC cell lines, as well as the recruitment of MDSCs (myeloid-derived suppressor cells) by active TGFß1 (transforming growth factor beta 1), which further inhibited CD8+ T cell proliferation and activated the immune suppression signal. CONCLUSION: Our results demonstrate that the LTBP4-TGFß1-MDSCs axis is a critical pathway for the immune suppression signals of HCC primary tumors.
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BACKGROUND: Ovarian cancer has the highest death rate of all fatal gynecological cancers. Increasing evidence has depicted the correlation between serous ovarian carcinoma prognosis and immune signature. Therefore, the aim of this study is to develop a robust prognostic immune-related gene pairs (IRGPs) signature for estimating overall survival (OS) of HGSOC. METHODS: Gene expression profiling and clinical information of serous ovarian carcinoma patients were derived from three public data sets, divided into training and validation cohorts. Immune genes significantly associated with prognosis were selected. RESULTS: Among 1,534 immune genes, a 20 IRGPs signature was built which was significantly associated with OS in the training cohort (P=1.44×10-14; hazard ratio [HR] =3.05 [2.26, 4.10]). In the validation datasets, the IRGPs signature significantly divided patients into high- vs low- risk groups considering their prognosis (P=4.30×10-3; HR =1.48 [1.13, 1.95]) and was prognostic in multivariate analysis. Functional analysis showed that several biological processes, including EMT and TGF-ß related pathways, enriched in the high-risk group. Macrophages M2 was significantly higher in the high-risk group compared with the low-risk group. CONCLUSION: We successfully constructed a robust IRGPs signature with prognostic values for serous ovarian carcinoma, providing new insights into post-operational treatment strategies.
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OBJECTIVES: This study was designed to establish an ELISA method, as well as the cut-off value, for IgA against Epstein-Barr virus (EBV) viral capsid antigen (VCA), as a screening assay for nasopharyngeal carcinoma (NPC) in southern China. In addition, the correlation between relative optical density (rOD) values from ELISA and titers from the immunoenzymatic assay (IEA) was also evaluated. METHODS: Two hundred and fifty-eight NPC cases, 33 non-NPC head and neck cancer patients, and 1156 healthy controls were recruited for this study. VCA-IgA and early antigen (EA)-IgA were measured by ELISA kits and IEA in parallel. RESULTS: The total precision of the VCA-IgA ELISA achieved a level of <13.0% coefficient of variation. An rOD value of 1.60 for the VCA-IgA ELISA was determined as the cut-off point for southern China, and the sensitivity and specificity for NPC diagnosis when using this cut-off value were 93.0% and 92.4%, respectively. The area under the receiver operating characteristic curve (ROC-AUC) value was 0.969. The correlation coefficient between titers and rOD values was 0.957. rOD values were correlated with NPC overall stage and lymph node involvement. CONCLUSIONS: The cut-off level established in our study could be used to facilitate more accurate diagnosis of NPC in southern China. The rOD value might be an index for NPC prognosis, since it shows a good correlation with the titer from IEA.
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Anticorps antiviraux/immunologie , Antigènes viraux/immunologie , Protéines de capside/immunologie , Infections à virus Epstein-Barr/complications , Herpèsvirus humain de type 4/immunologie , Immunoglobuline A/immunologie , Tumeurs du rhinopharynx/diagnostic , Tumeurs du rhinopharynx/étiologie , Adulte , Sujet âgé , Sujet âgé de 80 ans ou plus , Anticorps antiviraux/sang , Carcinomes , Test ELISA , Femelle , Humains , Immunoglobuline A/sang , Mâle , Adulte d'âge moyen , Cancer du nasopharynx , Stadification tumorale , Courbe ROC , Trousses de réactifs pour diagnostic , Valeurs de référence , Reproductibilité des résultats , Sensibilité et spécificité , Jeune adulteRÉSUMÉ
Attention-deficit/hyperactivity disorder (ADHD) is a common childhood-onset psychiatric disorder with high heritability. In recent years, numerous molecular genetic studies have been published to investigate susceptibility loci for ADHD. These results brought valuable candidates for further research, but they also presented great challenge for profound understanding of genetic data and general patterns of current molecular genetic studies of ADHD since they are scattered and heterogeneous. In this review, we presented a retrospective review of more than 300 molecular genetic studies for ADHD from two aspects: (1) the main achievements of various studies were summarized, including linkage studies, candidate-gene association studies, genome-wide association studies and genome-wide copy number variation studies, with a special focus on general patterns of study design and common sample features; (2) candidate genes for ADHD have been systematically evaluated in three ways for better utilization. The thorough summary of the achievements from various studies will provide an overview of the research status of molecular genetics studies for ADHD. Meanwhile, the analysis of general patterns and sample characteristics on the basis of these studies, as well as the integrative review of candidate ADHD genes, will propose new clues and directions for future experiment design.
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Trouble déficitaire de l'attention avec hyperactivité/génétique , Prédisposition génétique à une maladie/génétique , Étude d'association pangénomique , Trouble déficitaire de l'attention avec hyperactivité/psychologie , Variations de nombre de copies de segment d'ADN , Liaison génétique , Humains , Études rétrospectivesRÉSUMÉ
Primary Sjögren's syndrome is one of the most common autoimmune diseases. So far, genetic studies of Sjögren's syndrome have relied mostly on candidate gene approaches. To identify new genetic susceptibility loci for primary Sjögren's syndrome, we performed a three-stage genome-wide association study in Han Chinese. In the discovery stage, we analyzed 556,134 autosomal SNPs in 542 cases and 1,050 controls. We then validated promising associations in 2 replication stages comprising 1,303 cases and 2,727 controls. The combined analysis identified GTF2I at 7q11.23 (rs117026326: Pcombined = 1.31 × 10(-53), combined odds ratio (ORcombined) = 2.20) as a new susceptibility locus for primary Sjögren's syndrome. Our analysis also confirmed previously reported associations in Europeans in the regions of STAT4, TNFAIP3 and the major histocompatibility complex (MHC). Fine mapping of the region around GTF2I showed that rs117026326 in GTF2I had the most significant association, with associated SNPs extending from GTF2I to GTF2IRD1-GTF2I.
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Protéines de liaison à l'ADN/génétique , Protéines et peptides de signalisation intracellulaire/génétique , Protéines nucléaires/génétique , Facteur de transcription STAT-4/génétique , Syndrome de Gougerot-Sjögren/génétique , Facteurs de transcription TFII/génétique , Chine , Chromosomes humains de la paire 7/génétique , Prédisposition génétique à une maladie , Étude d'association pangénomique , Humains , Complexe majeur d'histocompatibilité/génétique , Polymorphisme de nucléotide simple , Protéine-3 induite par le facteur de nécrose tumorale alphaRÉSUMÉ
BACKGROUND: Major depressive disorder (MDD) is a complex neuropsychiatric syndrome with high heterogeneity. There are different levels of biological components that underlie MDD and interact with each other. To uncover the disease mechanism, large numbers of studies at different levels have been conducted. There is a growing need to integrate data from multiple levels of research into a database to provide a systematic review of current research results. The cross level integration will also help bridge gaps of different research levels for further understanding on MDD. So far, there has been no such effort for MDD. DESCRIPTIONS: We offer researchers a Multi-level Knowledge base for MDD (MK4MDD) to study the interesting interplay of components in the pathophysiological cascade of MDD from genetic variations to diagnostic syndrome. MK4MDD contains 2,341 components and 5,206 relationships between components based on reported experimental results obtained by diligent literature reading with manual curation. All components were well classified with careful curation and supplementary annotation. The powerful search and visualization tools make all data in MK4MDD form a cross-linked network to be applied to a broad range of both basic and applied research. CONCLUSIONS: MK4MDD aims to provide researchers with a central knowledge base and analysis platform for MDD etiological and pathophysiological mechanisms research. MK4MDD is freely available at http://mdd.psych.ac.cn.
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Trouble dépressif majeur/étiologie , Trouble dépressif majeur/physiopathologie , Bases de connaissances , Trouble dépressif majeur/génétique , Variation génétique , HumainsRÉSUMÉ
With a worldwide prevalence of ~5%, attention deficit hyperactivity disorder (ADHD) has become one of the most common psychiatric disorders. The polygenetic nature of ADHD indicates that multiple genes jointly contribute to the development of this complex disease. Studies aiming to explore genetic susceptibility of ADHD have been increasing in recent years. There is a growing need to integrate the genetic data from various genetic studies to provide a comprehensive data set and uniform access for convenience of in-depth data mining. So far, there has been no such effort for ADHD. To address the genetic complexity of ADHD, we developed the ADHDgene database by integrating ADHD-related genetic factors by profound literature reading. Based on the data from the literature, extended functional analysis, including linkage disequilibrium analysis, pathway-based analysis and gene mapping were performed to provide new insights into genetic causes of ADHD. Moreover, powerful search tools and a graphical browser were developed to facilitate the navigation of the data and data connections. As the first genetic database for ADHD, ADHDgene aims to provide researchers with a central genetic resource and analysis platform for ADHD and is freely available at http://adhd.psych.ac.cn/.
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Trouble déficitaire de l'attention avec hyperactivité/génétique , Bases de données génétiques , Cartographie chromosomique , Étude d'association pangénomique , Humains , Déséquilibre de liaisonRÉSUMÉ
Genome-wide association study (GWAS) is widely utilized to identify genes involved in human complex disease or some other trait. One key challenge for GWAS data interpretation is to identify causal SNPs and provide profound evidence on how they affect the trait. Currently, researches are focusing on identification of candidate causal variants from the most significant SNPs of GWAS, while there is lack of support on biological mechanisms as represented by pathways. Although pathway-based analysis (PBA) has been designed to identify disease-related pathways by analyzing the full list of SNPs from GWAS, it does not emphasize on interpreting causal SNPs. To our knowledge, so far there is no web server available to solve the challenge for GWAS data interpretation within one analytical framework. ICSNPathway is developed to identify candidate causal SNPs and their corresponding candidate causal pathways from GWAS by integrating linkage disequilibrium (LD) analysis, functional SNP annotation and PBA. ICSNPathway provides a feasible solution to bridge the gap between GWAS and disease mechanism study by generating hypothesis of SNP â gene â pathway(s). The ICSNPathway server is freely available at http://icsnpathway.psych.ac.cn/.
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Étude d'association pangénomique , Polymorphisme de nucléotide simple , Logiciel , Polyarthrite rhumatoïde/génétique , Humains , Internet , Déséquilibre de liaisonRÉSUMÉ
Synthetic biology is an emerging field, which, since its birth, has shown great value and potential in many fields including medicine, energy, environment and agriculture. It is also important for the study of the origin and evolution of life. Since the publication of the first synthetic cell in May, 2010, synthetic biology again attracts high attention and leads to extensive discussions all over the world. There have been a number of researches and achievements on synthetic biology in the United States and European countries. While in China, so far there is no systematic research on synthetic biology. In order to promote the development of this new discipline in China, we organized this review to systematically introduce the concept and research content of synthetic biology, summarize the achievements, and investigate the current situation in both China and abroad. We also analyzed the opportunities and challenges in synthetic biology, and looked forward to the future development of synthetic biology, especially its future development in China.
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Genome-wide association study (GWAS) is nowadays widely used to identify genes involved in human complex disease. The standard GWAS analysis examines SNPs/genes independently and identifies only a number of the most significant SNPs. It ignores the combined effect of weaker SNPs/genes, which leads to difficulties to explore biological function and mechanism from a systems point of view. Although gene set enrichment analysis (GSEA) has been introduced to GWAS to overcome these limitations by identifying the correlation between pathways/gene sets and traits, the heavy dependence on genotype data, which is not easily available for most published GWAS investigations, has led to limited application of it. In order to perform GSEA on a simple list of GWAS SNP P-values, we implemented GSEA by using SNP label permutation. We further improved GSEA (i-GSEA) by focusing on pathways/gene sets with high proportion of significant genes. To provide researchers an open platform to analyze GWAS data, we developed the i-GSEA4GWAS (improved GSEA for GWAS) web server. i-GSEA4GWAS implements the i-GSEA approach and aims to provide new insights in complex disease studies. i-GSEA4GWAS is freely available at http://gsea4gwas.psych.ac.cn/.
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Gènes , Étude d'association pangénomique , Polymorphisme de nucléotide simple , Logiciel , Algorithmes , Maladie/génétique , Humains , Internet , Interface utilisateurRÉSUMÉ
As a key focus of synthetic biology, building a minimal artificial cell has given rise to many discussions. A synthetic minimal cell will provide an appropriate chassis to integrate functional synthetic parts, devices and systems with functions that cannot generally be found in nature. The design and construction of a functional minimal genome is a key step while building such a cell/chassis since all the cell functions can be traced back to the genome. Kinds of approaches, based on bioinformatics and molecular biology, have been developed and proceeded to derive essential genes and minimal gene sets for the synthetic minimal genome. Experiments about streamlining genomes of model bacteria revealed genome reduction led to unanticipated beneficial properties, such as high electroporation efficiency and accurate propagation of recombinant genes and plasmids that were unstable in other strains. Recent achievements in chemical synthesis technology for large DNA segments together with the rapid development of the whole-genome sequencing, have transferred synthesis of genes to assembly of the whole genomes based on oligonucleotides, and thus created strong preconditions for synthesis of artificial minimal genome. Here in this article, we review briefly the history and current state of research in this field and summarize the main methods for making a minimal genome. We also discuss the impacts of minimized genome on metabolism and regulation of artificial cell.