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1.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 29(5): 1561-1565, 2021 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-34627440

RESUMO

OBJECTIVE: To perform dried blood spots thalassemia gene detection in patients with positive blood phenotypes by microarray technology, and evaluate its value in clinical detection. METHODS: DNA samples were extracted from dried blood spots of 410 patients. Microarray technology was used to detect 3 deletion and 3 non-deletion types of α-thalassemia and 19 ß-thalassemia point mutations which were common gene mutions in China. RESULTS: There were 357 positive cases in all the 410 tested samples with the positive rate 87.07%, among which 299 cases (72.93%) carried deletion or point mutations of α-thalassemia, 29 cases (7.07%) carried point mutations of ß-thalassemia and 29 cases (7.07%) carried gene mutations of complex αß-thalassemia syndrome. The mutations of α-thalassemia were involved with --SEA heterozygous deletion (177 cases, 59.2%), αCS heterozygote (60 cases, 20.07%) and several other genotypes. The common mutations of ß- thalassemia were involved with ßCD41-42 heterozygote (10 cases, 34.48%) and ßCD17 heterozygote (9 cases, 31.03%). The mutations of complex αß-thalassemia syndrome were mainly involved with --SEA/αα+ßCD17/ßN (7 cases, 24.14%), αCSα/αα + ßCD41-42/ßN (3 cases, 10.34%) and -α4.2/αα + ßCD17/ßN (3 cases, 10.34%). CONCLUSION: The most common genetic mutations are --SEA for α-thalassemia and CD41-42 for ß-thalassemia in Liuzhou, Guangxi Zhuang Autonomous Region. A and ß-thalassemia can be detected at the same time by microarray chip technology in a high throughput manner.


Assuntos
Talassemia alfa , Talassemia beta , China , Humanos , Mutação , Análise de Sequência com Séries de Oligonucleotídeos , Talassemia alfa/genética , Talassemia beta/genética
2.
World J Gastroenterol ; 27(31): 5232-5246, 2021 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-34497447

RESUMO

BACKGROUND: Artificial intelligence in colonoscopy is an emerging field, and its application may help colonoscopists improve inspection quality and reduce the rate of missed polyps and adenomas. Several deep learning-based computer-assisted detection (CADe) techniques were established from small single-center datasets, and unrepresentative learning materials might confine their application and generalization in wide practice. Although CADes have been reported to identify polyps in colonoscopic images and videos in real time, their diagnostic performance deserves to be further validated in clinical practice. AIM: To train and test a CADe based on multicenter high-quality images of polyps and preliminarily validate it in clinical colonoscopies. METHODS: With high-quality screening and labeling from 55 qualified colonoscopists, a dataset consisting of over 71000 images from 20 centers was used to train and test a deep learning-based CADe. In addition, the real-time diagnostic performance of CADe was tested frame by frame in 47 unaltered full-ranged videos that contained 86 histologically confirmed polyps. Finally, we conducted a self-controlled observational study to validate the diagnostic performance of CADe in real-world colonoscopy with the main outcome measure of polyps per colonoscopy in Changhai Hospital. RESULTS: The CADe was able to identify polyps in the test dataset with 95.0% sensitivity and 99.1% specificity. For colonoscopy videos, all 86 polyps were detected with 92.2% sensitivity and 93.6% specificity in frame-by-frame analysis. In the prospective validation, the sensitivity of CAD in identifying polyps was 98.4% (185/188). Folds, reflections of light and fecal fluid were the main causes of false positives in both the test dataset and clinical colonoscopies. Colonoscopists can detect more polyps (0.90 vs 0.82, P < 0.001) and adenomas (0.32 vs 0.30, P = 0.045) with the aid of CADe, particularly polyps < 5 mm and flat polyps (0.65 vs 0.57, P < 0.001; 0.74 vs 0.67, P = 0.001, respectively). However, high efficacy is not realized in colonoscopies with inadequate bowel preparation and withdrawal time (P = 0.32; P = 0.16, respectively). CONCLUSION: CADe is feasible in the clinical setting and might help endoscopists detect more polyps and adenomas, and further confirmation is warranted.


Assuntos
Pólipos do Colo , Aprendizado Profundo , Inteligência Artificial , Pólipos do Colo/diagnóstico por imagem , Colonoscopia , Computadores , Humanos
3.
Pacing Clin Electrophysiol ; 44(11): 1824-1831, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34427332

RESUMO

OBJECTIVE: To investigate theoptimal idarucizumab (dabigatran antagonist) usage strategy for patients with acute pericardial tamponade receiving uninterrupted dabigatran during catheter ablation for atrial fibrillation (AF). METHODS: Ten patients presenting acute pericardial tamponade while receiving uninterrupted dabigatran during catheter ablation for AF in Beijing Anzhen Hospital from January 2019 to July 2020 were enrolled and retrospectively analyzed. A "wait and see" strategy of idarucizumab was carried out for all patients; in brief, idarucizumab was applied following pericardiocentesis, comprehensive evaluation of bleeding and hemostasis. RESULTS: There were five males, five paroxysmal AF, and the average age of the patients was 64.0 ± 9.8 years. Among the 10 patients, four were treated with dabigatran 110 mg, six were treated with dabigatran 150 mg, and one was simultaneously given clopidogrel. The average time from pericardial tamponade to the last dose of dabigatran was 8.2 ± 3.4 h. All patients underwent pericardiocentesis successfully, and the average drainage volume was 322.5 ml (220.0 ± 935.0 ml). For reversal anticoagulation, six patients received protamine, and five patients received idarucizumab. Of the five patients who were treated with idarucizumab, four presented exact hemostasis, except for one patient who underwent continuous drainage and finally received surgery repair. The average time to restart anticoagulation was 1.1 ± 0.3 days after the procedure, and no rebleeding, embolism or deaths were observed. CONCLUSION: The "wait and see" strategy of idarucizumab for acute pericardial tamponade during the perioperative period of catheter ablation for AF may be safe and feasible.

4.
Technol Cancer Res Treat ; 19: 1533033820983812, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33371800

RESUMO

We do not know the clinical and prognostic factors that influence the survival of patients with gastric signet ring cell carcinoma (SRC). Therefore, a retrospective review was undertaken of 219 patients with SRC who had undergone gastrectomy between January 2009 and December 2012 in our hospital. Patient age, sex, TNM stage, vessel carcinoma embolus, perineural invasion, tumor site and operation type, postoperative chemotherapy, and five-year overall survival were recorded and evaluated. In our study, 93 cases (42.5%) were signet ring cell carcinoma only, and 126 cases (57.5%) were signet ring cell carcinoma coexisting with other components (such as adenocarcinoma or mucus adenocarcinoma). Eighty-three patients were female, 136 were male, 46 occurred at the gastroesophageal junction (21.0%), 63 at the fundus/body (28.8%), 80 were antrum/pylorus (36.5%), and 30 were whole stomach (13.7%). The prognosis of gastric antrum/ pylorus cancer was the best (P < 0.05). There were 133 patients (60.7%) with stage III, and the single factor analysis showed that the earlier the stage, the better the prognosis. The overall five-year survival rate was 30.1% in all patients. One-hundred and 41 patients (64.4%) received D2 radical surgery, 64 (29.2%) received D1 radical operation, and 14 (6.4%) received palliative resection, and the patients who received D2 had the best overall survival (P < 0.05). The survival time of the paclitaxel-based regimen in postoperative adjuvant chemotherapy tended to be prolonged. There was no statistical difference in overall survival between the percentage of signet-ring cells and sex. In summary, age, tumor stage, and surgical resection combined with D2 lymphadenectomy were independent prognostic factors for SRC. Adjuvant chemotherapy with a paclitaxel-based regimen may improve the survival of patients with SRC.


Assuntos
Carcinoma de Células em Anel de Sinete/mortalidade , Carcinoma de Células em Anel de Sinete/patologia , Neoplasias Gástricas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Estadiamento de Neoplasias , Prognóstico , Modelos de Riscos Proporcionais , Neoplasias Gástricas/mortalidade , Adulto Jovem
5.
Cancer Manag Res ; 12: 7601-7610, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32904660

RESUMO

Purpose: To investigate the clinicopathological and prognostic factors related to early gastric cancer recurrence after curative resection. Patients and Methods: Between October 2006 and August 2018, a total of 149 patients with recurrence of gastric cancer/adenocarcinoma of the esophagogastric junction after curative resection were enrolled from our treatment group. A retrospective clinical analysis was performed on these patients with gastric cancer recurrence after curative resection. Results: Among the 149 patients, 99 (66.4%) had only one recurrence pattern, and 50 (33.6%) had multiple recurrence patterns. The median recurrence-free survival (RFS) was 18.2 months (95% CI 15.0-21.4). Ninety-four patients (63.1%) experienced early recurrence (recurrence within 24 months after curative resection), and 55 patients (36.9%) experienced late recurrence (recurrence beyond 24 months after curative resection). The univariate analysis showed that perineural invasion (P=0.002), depth of invasion (P=0.026), postoperative chemotherapy (P=0.036) and postoperative complications (P=0.004) were significant factors associated with early recurrence after curative resection for gastric cancer. Perineural invasion (P=0.003), postoperative chemotherapy (P=0.036) and postoperative complications (P=0.042) were independent factors associated with early recurrence after curative resection in the multivariate analysis. The survival analysis showed that perineural invasion (P=0.011) and postoperative complications (P=0.007) were independent prognostic factors. The median survival time of early recurrence patients was significantly shorter than that of late recurrence patients (25.4 vs 62.9 months, P<0.001). Conclusion: Perineural invasion, postoperative chemotherapy and postoperative complications were independent factors associated with early recurrence after curative resection. Patients with early recurrence after curative resection had poorer survival.

6.
JAMA Netw Open ; 2(9): e1911895, 2019 09 04.
Artigo em Inglês | MEDLINE | ID: mdl-31539077

RESUMO

Importance: Immune checkpoint inhibitors (ICIs) can elicit durable antitumor responses in patients with non-small cell lung cancer (NSCLC), but only 20% to 25% of patients respond to treatment. As important genes in the DNA damage response pathway, comutation in the tumor protein p53 (TP53) and ataxia-telangiectasia mutated (ATM) genes may be associated with genomic instability and hypermutation. However, the prevalence of TP53 and ATM comutation and its association with response to ICIs are not fully understood. Objective: To examine the prevalence of the TP53 and ATM comutation, the potential mechanism, and its association with response to ICIs among patients with NSCLC. Design, Setting, and Participants: This multiple-cohort study included patients with NSCLC from the Geneplus Institute, the Cancer Genome Atlas (TCGA), and the Memorial Sloan Kettering Cancer Center (MSKCC) databases and from the POPLAR and OAK randomized controlled trials. Samples in the Geneplus cohort were collected and analyzed from April 30, 2015, through February 28, 2019. Data from TCGA, the MSKCC, and the POPLAR and OAK cohorts were obtained on January 1, 2019, and analyzed from January 1 to April 10, 2019. Next-generation sequencing assays were performed on tumor samples by the Geneplus Institute. Genomic, transcriptomic, and clinical data were obtained from TCGA and MSKCC databases. Exposures: Comprehensive genetic profiling was performed to determine the prevalence of TP53 and ATM comutation and its association with prognosis and response to ICIs. Main Outcomes and Measures: The main outcomes were TP53 and ATM comutation frequency, overall survival (OS), progression-free survival, gene set enrichment analysis, and immune profile in NSCLC. Results: Patients with NSCLC analyzed in this study included 2020 patients in the Geneplus cohort (mean [SD] age, 59.5 [10.5] years; 1168 [57.8%] men), 1031 patients in TCGA cohort (mean [SD] age, 66.2 [9.5] years; 579 [56.2%] men), 1527 patients in the MSKCC cohort (662 [43.4%] men), 350 patients in the MSKCC cohort who were treated with ICIs (mean [SD] age, 61.4 [13.8] years; 170 [48.6%] men), and 853 patients in the POPLAR and OAK cohort (mean [SD] age, 63.0 [9.1] years; 527 [61.8%] men). Sites of TP53 and ATM comutation were found scattered throughout the genes, and no significant difference was observed in the frequency of TP53 and ATM comutation within the histologic subtypes and driver genes. In 5 independent cohorts of patients with NSCLC, TP53 and ATM comutation was associated with a significantly higher tumor mutation burden compared with the sole mutation and with no mutation (TCGA, MSKCC, Geneplus, and POPLAR and OAK cohort). Among patients treated with ICIs in the MSKCC cohort, TP53 and ATM comutation was associated with better OS than a single mutation and no mutation among patients with any cancer (median OS: TP53 and ATM comutation, not reached; TP53 mutation alone, 14.0 months; ATM mutation alone, 40.0 months; no mutation, 22.0 months; P = .001; NSCLC median OS: TP53 and ATM comutation, not reached; TP53 mutation alone, 11.0 months; ATM mutation alone, 16.0 months; no mutation, 14.0 months; P = .24). Similar results were found in the POPLAR and OAK cohort in which the disease control benefit rate, progression-free survival, and OS were all greater in patients with the TP53 and ATM comutation compared with the other 3 groups (median progression-free survival: TP53 and ATM comutation, 10.4 months; TP53 mutation, 1.6 months; ATM mutation, 3.5 months; no mutation, 2.8 months; P = .01; median OS: TP53 and ATM comutation, 22.1 months; TP53 mutation, 8.3 months; ATM mutation, 15.8 months; no mutation, 15.3 months; P = .002). Conclusions and Relevance: This study's findings suggest that the TP53 and ATM comutation occurs in a subgroup of patients with NSCLC and is associated with an increased tumor mutation burden and response to ICIs. This suggests that TP53 and ATM comutation may have implications as a biomarker for guiding ICI treatment.


Assuntos
Ataxia Telangiectasia/genética , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Neoplasias Pulmonares/tratamento farmacológico , Proteína Supressora de Tumor p53/genética , Idoso , Antineoplásicos Imunológicos , Ataxia Telangiectasia/mortalidade , Biomarcadores Tumorais , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/mortalidade , Estudos de Coortes , Análise Mutacional de DNA , Feminino , Humanos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/mortalidade , Masculino , Pessoa de Meia-Idade , Mutação/genética , Prognóstico , Resultado do Tratamento
7.
Asian J Androl ; 21(4): 387-392, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30860083

RESUMO

Our previous study found that plate factor-4 variant (CXCL4L1) was downregulated in the serum of patients with prostate cancer (PCa). The aim of the present study was to investigate the prognostic value of CXCL4L1 in PCa. In total, 213 PCa patients treated with radical prostatectomy were enrolled and peripheral blood samples of all patients were collected. Expression of serum CXCL4L1 in patients with different tumor stages and grades were measured by enzyme-linked immunosorbent assay (ELISA). The Kaplan-Meier method was applied to estimate the progression to castration-resistant prostate cancer (CRPC), metastasis, biochemical recurrence (BCR)-free survival, and overall survival (OS). Prognostic factors for BCR-free survival and OS were determined by univariate and multivariate analyses using the Cox proportional hazards regression model. The expression of CXCL4L1 was significantly lower in PCa patients with advanced pathological tumor stage, high-grade Gleason score, and metastasis. Moreover, downregulation of CXCL4L1 not only strongly correlated with aggressive clinicopathological features, but also predicted tumor progression and unfavorable outcomes. Finally, multivariate Cox regression analyses identified CXCL4L1 as an independent prognostic factor for both BCR-free survival (hazard ratio [HR]: 2.03, 95% confidence interval [CI]: 1.26-3.27; P = 0.004) and OS (HR: 2.26, 95% CI: 1.07-4.79; P = 0.033). In conclusion, our results indicate that CXCL4L1 might serve as a novel and promising prognostic biomarker for patients with PCa and potential therapeutic target in the future.


Assuntos
Adenocarcinoma/sangue , Regulação para Baixo , Fator Plaquetário 4/sangue , Próstata/patologia , Prostatectomia/métodos , Neoplasias da Próstata/sangue , Adenocarcinoma/mortalidade , Adenocarcinoma/patologia , Adenocarcinoma/cirurgia , Idoso , Progressão da Doença , Intervalo Livre de Doença , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Prognóstico , Próstata/cirurgia , Neoplasias da Próstata/mortalidade , Neoplasias da Próstata/patologia , Neoplasias da Próstata/cirurgia , Taxa de Sobrevida
8.
Zhonghua Nei Ke Za Zhi ; 52(3): 185-7, 2013 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-23856106

RESUMO

OBJECTIVE: To investigate the prevalence, awareness, control status and associated risk factors of hypertension in a rural population in Xianghe county in North China. METHODS: A total of 830 adults (aged ≥ 35) from Xianghe county were examined during July to August, 2011. Blood pressure was obtained using a standardized sphygmomanometer after a 5-minute sitting rest. Information on gender, age, education level, marital status, smoking, drinking, income, family history of hypertension and use of antihypertensive medications was obtained. RESULTS: A total of 42.4% of all subjects had hypertension. Among those with hypertension, the awareness rate was 54.8% and 50.0% of the patients were taking antihypertensive medication with the control rate of 11.9% [BP < 140/90 mm Hg (1 mm Hg = 0.133 kPa)]. Lower age and education level, lower body mass index, negative family history of hypertension were associated with poor awareness of hypertension and worse compliance with the treatment. Older age, positive family history and alcohol consumption were associated with poor blood pressure control. CONCLUSIONS: Hypertension is highly prevalent in Xianghe rural area. The awareness, treatment and control rate are all low. There is an urgent need for comprehensive strategies to improve prevention, screening, and treatment of hypertension in rural China.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Hipertensão/epidemiologia , Idoso , China/epidemiologia , Feminino , Humanos , Hipertensão/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , População Rural , Inquéritos e Questionários
9.
Zhonghua Xin Xue Guan Bing Za Zhi ; 41(10): 882-5, 2013 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-24377897

RESUMO

OBJECTIVE: To observe the risk factors and prevalence of cardiovascular disease, and predict the 10-year risk of ischemic cardiovascular disease (ICVD) of a rural residents in Xianghe of Hebei province. METHODS: Two thousand five hundred and thirty two adults ( ≥ 35 years old) were surveyed at internal medicine outpatient department of Xianghe asthma hospital in Hebei province by face-to-face interview, physical examination and biochemical test. Subjects aged 35 to 59 were also evaluated using the National 10-year Risk Assessment for ICVD. RESULTS: The prevalence of stroke and coronary heart disease was 2.2% (56/2532) and 6.9% (176/2532) respectively, the age- and sex-standardized prevalence was 1.3% and 5.9% respectively. The prevalence of hypertension, diabetes, dyslipidemia, overweight, obese and central obesity was 59.9% (1516/2532), 26.9% (682/2532), 68.5% (1735/2532), 40.9% (1038/2532), 14.8% (374/2532) and 49.5% (1254/2532) respectively, the age- and sex-standardized prevalence was 43.8%, 19.9%, 56.5%, 35.1%, 15.6%, 41.9%, respectively. Ten-year ICVD risk was higher than 10% in 14.1% (188/1336) residents aged between 35 to 59 years. CONCLUSIONS: Risk factors and prevalence of cardiovascular disease as well as 10-year risk of ICVD are high in this rural population in Xianghe of Hebei province. Intensive prevention and therapy strategies are urgently needed to attenuate the ICVD risk factors and treat ICVD in rural area of China.


Assuntos
Doenças Cardiovasculares/epidemiologia , Adulto , Idoso , China/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , População Rural
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