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1.
Chinese Journal of Digestive Endoscopy ; (12): 365-371, 2023.
Article in Chinese | WPRIM | ID: wpr-995392

ABSTRACT

Objective:To explore the feasibility of smart phone real-time picture exchange-assisted telecytopathology for rapid on-site evaluation (tele-ROSE), and the role of tele-ROSE in improving the diagnostic efficiency of endoscopic physicians.Methods:Data of patients who underwent endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) from April 2020 to May 2021 in Qilu Hospital of Shandong University were retrospectively collected. Patients who didn't receive ROSE from April 2020 to October 2020 were enrolled in the non-ROSE group, and those who underwent ROSE from November 2020 to May 2021 were enrolled in the ROSE group, of which endosonographers used WeChat on the smartphone to send ROSE images to cytopathologists from November 2020 to March 2021 were the mobile phone group, and those whose ROSE results independently diagnosed by trained endosonographers from April 2021 to May 2021 were the self-ROSE group. Basic information, ROSE results, postoperative pathology and follow-up were compared, and the diagnostic effectiveness of tele-ROSE was analyzed.Results:A total of 188 cases were included, of which 179 cases (95.2%) were solid pancreatic lesions and 9 (4.8%) were enterocoelia lesions. There was no significant difference in the puncture time among the non-ROSE, mobile phone and self-ROSE groups [3 (3, 4) VS 3 (3, 4) VS 3 (2, 4), H=1.320, P=0.517]. With the final diagnosis as the golden standard, the sensitivity, the specificity, the accuracy, the positive predictive value, the negative predictive value and Kappa value of the non-ROSE group were 80.6% (58/72), 89.5% (17/19), 82.4% (75/91), 96.7% (58/60), 54.8% (17/31), and 0.6 respectively. The corresponding indices in the ROSE group were 97.4% (74/76), 100.0% (21/21), 97.9% (95/97), 100.0% (74/74), 91.3% (21/23), and 0.9 respectively, those of the mobile phone group were 95.2% (40/42), 100.0% (10/10), 96.2% (50/52), 100.0% (40/40), 83.3% (10/12), and 0.9 respcetively, and those of the self-ROSE group were 100.0% (34/34), 100.0% (11/11), 100.0% (45/45), 100.0% (34/34), 100.0% (11/11), and 1.0 respectively. The sensitivity ( P=0.002), the accuracy ( P=0.001) and the negative predictive value ( P=0.009) of the ROSE group were significantly higher than those of the non-ROSE group, and there was no significant difference in other diagnostic efficacy indices ( P>0.05). There was no significant difference between the mobile phone group and the self-ROSE group in diagnostic efficacy ( P>0.05). Conclusion:Instant smartphone-assisted tele-ROSE through WeChat can well meet the needs of pathologists and endoscopic physicians. After the application of tele-ROSE training, the diagnostic accuracy of endoscopic physicians is equivalent to that of cytopathologist, which helps to obtain more sufficient specimens under endoscopy and improve the diagnostic accuracy of EUS-FNA.

2.
Chinese Journal of Digestive Endoscopy ; (12): 182-188, 2023.
Article in Chinese | WPRIM | ID: wpr-995372

ABSTRACT

Objective:To develop a novel, flexible, dual-arm, master-slave digestive endoscopic minimally invasive surgical robot system named dual-arm robotic endoscopic assistant for minimally invasive surgery (DREAMS) and to evaluate its feasibility for endoscopic submucosal dissection (ESD) by using ex vivo porcine stomachs.Methods:A novel endoscopic robot (DREAMS) system was developed which was composed of a flexible two-channel endoscope, two flexible robotic manipulators, a master controller, a robotic arm, and a control system. A total of 10 artificial round-like lesions with diameters ranging from 15 to 25 mm were created (5 in gastric antrum and 5 in gastric body) by using fresh peeled stomach of healthy pigs as the model. Submucosal dissection was performed with the assistance of the DREAMS system by two operators. The main outcome was submucosal dissection speed, and the secondary outcomes included muscular injury rate, perforation rate, and grasping efficiency of the robot.Results:All 10 lesions were successfully dissected en bloc by using the DREAMS system. The diameter of the artificial lesions was 22.34±2.39 mm, dissection time was 15.00±8.90 min, submucosal dissection speed was 141.79±79.12 mm 2/min, and the number of tractions required by each ESD was 4.2 times. Muscular injury occurred in 4/10 cases of ESD. No perforation occurred. Conclusion:The initial animal experiment shows the DREAMS system is safe and effective.

3.
Chinese Journal of Geriatrics ; (12): 328-333, 2023.
Article in Chinese | WPRIM | ID: wpr-993816

ABSTRACT

Objective:To investigate the clinicopathologic features and molecular genetics characteristics of sinonasal tract mucosal malignant melanomas(STMMMs)in elderly patients.Methods:The clinicopathological features, immunohistochemical features and BRAF, C-KIT, NRAS mutations of STMMM in ten elderly patients were retrospectively analyzed.Results:Among the 10 patients, 5 were female and 5 were male.The patients were aged 65-81 years, with an average age of(72.5 ± 8.5)years.The lesions in 7 cases were located in the nasal cavity and paranasal sinuses, and in the other 3 cases were located in the nasopharynx.The morphologies of tumor cells under microscope was complex and diverse, showing plasma cell-like, rhabdomyoblast-like, small cell-like, epithelial-like, and spindle cell-like morphologies.Immunohistochemically, HMB-45 and S-100 were generally positive in 10 cases, and the positive rate of Melan A was 70.0%.The genes detection data showed no mutations in BRAF or NRAS genes in all the 10 cases, while C-KIT exon 11 c. 1666_1667insA mutation was found in one case, and the remaining 9 cases were wild-type for C-KIT.All the 10 cases were followed up for 4~50 months.Three cases survived so far.Conclusions:STMMM in elderly patients are rare and easy to be misdiagnosed.Immunohistochemistry and genetic testing provide guidance for accurate diagnosis and targeted therapy.

4.
Chinese Journal of Practical Nursing ; (36): 1235-1242, 2023.
Article in Chinese | WPRIM | ID: wpr-990324

ABSTRACT

Objective:To determine the level of epilepsy knowledge of caregivers for children with epilepsy and analyze its influencing factors, and investigate caregivers' educational needs and their acceptance for remote education, in order to provide reference for clinical telenursing education.Methods:From March to September 2022, 221 caregivers of epileptic children in the outpatient department and ward of neurology department of Xuzhou Children's Hospital were recruited by convenient sampling method for cross-sectional investigation. The status of caregivers' knowledge and educational needs were investigated by the general information questionnaire, epilepsy knowledge questionnaire, epilepsy knowledge needs questionnaire and telenursing acceptance questionnaire, and the influencing factors of knowledge level were analyzed by multiple linear regression.Results:The average score of epilepsy knowledge of caregivers was (15.68 ± 6.43) points. The course of disease, taking medicine on time, education background and monthly income of caregivers were the influencing factors of caregivers' knowledge level, and the difference was statistically significant ( P <0.05). 94.12% (208/221)- 96.38% (213/221) of the caregivers had high educational needs, and they had the highest demand for safety guidance during seizures. Caregivers' acceptance of remote education was moderate, ranging from 34.39% (76/221) to 71.95% (159/221). Conclusions:Caregivers' epilepsy knowledge needs to be improved. Medical institutions should formulate education plans according to the different characteristics of caregivers. Caregivers have a high demand for nursing knowledge, and medical staff should increase health education. Before giving health education based on remote nursing platform, we should fully understand the attitude of caregivers to the platform, so that they can master disease knowledge, strengthen their disease management ability, and improve the quality of life of children.

5.
Chinese Journal of Digestion ; (12): 328-335, 2022.
Article in Chinese | WPRIM | ID: wpr-934153

ABSTRACT

Objective:Based on the artificial intelligence (AI) technology in endoscopy and the internet platform, to explore and construct a safe, standardized, scientific and rigorous database for digestive endoscopy, and to provide reference and evidence for the data quality control of AI in digestive endoscopy in China.Methods:After referring to relevant guidelines and standards, data collection and labelling standards of digestive endoscopy of 12 common gastrointestinal diseases were determined. The software of online collection and labelling of multi-center digestive endoscopy data in Shandong Province was developed. Endoscopic equipment with a domestic market share of >5% was used and dozens of experienced endoscopists from 9 medical centers in Shandong Province were uniformly trained for data labelling. From July 2019 to July 2020, the endoscopic examination data from 9 medical centers including Qilu Hospital of Shandong University, Shandong Provincial Hospital , Liaocheng People′s Hospital, Linyi People′s Hospital, Weihai Municipal Hospital, Taian City Central Hospital, Binzhou Medical University Hospital, Yantai Yuhuangding Hospital and Qilu Hospital of Shandong University (Qingdao) were prospectively and continuously collected and labeled. The optimized, desensitized, and generalized data were uploaded to the server. After the file synchronization, data processing, and expert review, a multi-center digestive endoscopy AI database with standard data collection and labelling in Shandong Province was constructed, namely cloud platform. Descriptive methods were used for statistical analysis.Results:The collection and labelling standards for multi-center digestive endoscopy AI data in Shandong province was established. The software of online collection and labelling of multi-center digestive endoscopy AI data in Shandong province was developed. The database in Shandong province was successfully constructed. In the database, 43 010 lesions, 40 353 images, and 11 289 examinations were labeled. Among them, there were 2 906 cases of early esophageal cancer, 2 912 cases of early gastric cancer, 2 397 cases of early colorectal cancer, and 9 773 cases of colorectal polyps (5 539 cases of adenomatous polyps, 1 161 cases of non-adenomatous polyps and 3 073 case of undetermined polyps).Conclusions:The multi-center AI cloud platform for digestive endoscopy in Shandong Province adopts unified standards and collection and labeling software, which ensures the safety and standardization of endoscopy data. It provides a reference and basis for the construction of a quality control system for standardized data collection and labelling of digestive endoscopy AI data in our country and for the third-party data supervision.

6.
Chinese Journal of Experimental Ophthalmology ; (12): 165-172, 2022.
Article in Chinese | WPRIM | ID: wpr-931050

ABSTRACT

Objective:To analyze the risk factors for keratoconus through a systematic review of secondary literature.Methods:Analytical studies from Cochrane Library, PubMed, Embase database, CNKI, Wanfang Periodicals Database, VIP Chinese Science and Technology Journal Database published from January 2000 to May 2021 were searched, most of which were about the keratoconus occurrence and progression and the valid data were extracted.The case-control and the cohort studies were evaluated according to the Newcastle-Ottawa Scale.The categorical variables for combined effect size were odds ratio( OR) and 95% confidence interval ( CI). The heterogeneity was evaluated via the Q test and I2 test.The fixed-effect model was adopted when P>0.1 or I2≤50%, while the random effect model was adopted when I2>50%.The sources of heterogeneity in included evaluation indexes were analyzed through subgroup and sensitivity analysis.The publication bias was evaluated by Egger tests, Harbord tests, Peters tests and funnel plots. Results:A total of 21 papers with 30 124 keratoconus cases and 59 012 control cases enrolled, including 18 case-control studies and 3 cohort studies, whose data were from 10 countries, were included.The NOS scores of the studies were not less than 7 points.The Meta-analysis results indicated that family history ( OR: 8.68, 95% CI: 6.30-11.97), eye rubbing ( OR: 4.62, 95% CI: 3.75-5.70), allergy ( OR: 2.34, 95% CI: 1.73-3.16), obstructive sleep apnea ( OR: 1.53, 95% CI: 1.12-2.10) and Down syndrome ( OR: 7.09, 95% CI: 4.19-11.99) were the risk factors for keratoconus, and mitral valve prolapse ( P>0.05) was not a risk factor for keratoconus, and diabetes ( OR: 0.63, 95% CI: 0.50-0.79) was a protective factor for keratoconus.The subgroup analysis results indicated that the heterogeneity in allergy was partially due to the specific disease classification, and the heterogeneity in diabetes and obstructive sleep apnea was totally owing to the source of the cases.The sensitivity study showed that the results were robust after changing the analysis model.There was no bias in the included studies. Conclusions:Family history, eye rubbing, allergy, obstructive sleep apnea and Down syndrome are risk factors for keratoconus, and diabetes is a protective factor for keratoconus.

7.
Chinese Journal of Digestion ; (12): 557-564, 2022.
Article in Chinese | WPRIM | ID: wpr-958339

ABSTRACT

Objective:To explore the efficacy and safety of Ganhai Weikang capsule (GWC) in the treatment of functional dyspepsia (FD).Methods:A randomized, double-blind, placebo-controlled parallel, multi-center, superiority clinical trial was conducted. From March 2018 to April 2020, totally 324 patients with dyspepsia symptoms, who were diagnosed as chronic non-atrophic gastritis by endoscopy and pathology and met the Rome Ⅳ diagnostic criteria for FD from 7 top hospitals were enrolled, including the First Affiliated Hospital of Naval Medical University (Shanghai Changhai Hospital), Heilongjiang Hospital of Traditional Chinese Medicine, Tianjin Academy of Traditional Chinese Medicine Affiliated Hospital, Qilu Hospital of Shandong University, the First Affiliated Hospital of Zhejiang University, Beijing Hospital of Traditional Chinese Medicine of Capital Medical University and the Third Xiangya Hospital of Central South University. The patients were randomly divided into the GWC group and the placebo group according to the ratio of 1∶1. The patients of GWC group were given GWC and the patients of placebo group were given GWC capsule simulant. The patients of both groups orally took capsules before meals, 2.4 g each time and 3 times per day, and the course of treatment was 4 weeks. The main efficacy index was the total clinical effective rate after 4 weeks, and the secondary efficacy index was the changes of clinical symptom scores of upper abdominal pain, upper abdominal burning, postprandial fullness and early satiety. The safety index included laboratory tests and adverse events. Chi-square test and Wilcoxon rank sum test were used for statistical analysis.Results:A total of 320 FD patients were enrolled in the full analysis set (FAS), which included 161 cases in GWC group and 159 cases in placebo group. A total of 298 cases were in the per-protocol set (PPS), 149 cases each in GWC group and placebo group. The results of FAS and PPS both showed that the total clinical effective rates of the GWC group were higher than those of the placebo group (84.5%, 136/161 vs. 44.0%, 70/159 and 83.9%, 125/149 vs. 46.3%, 69/149), and the differences were statistically significant ( χ2=57.07 and 46.32, both P<0.001). In addition, the differences of the total score of main symptoms and each symptom (upper abdominal pain, upper abdominal burning, postprandial fullness and early satiety) before and after treatment of GWC group were all higher than those of the placebo group (FAS: 10 (7, 14) vs. 5 (3, 11); 3 (2, 4) vs. 2 (0, 3); 2 (0, 4) vs. 1 (0, 3); 3 (1, 4) vs. 2 (1, 3); 2 (0, 4) vs. 1 (0, 3). PPS: 10 (7, 13) vs. 5 (3, 11); 3 (2, 4) vs. 2 (0, 3); 2 (0, 4) vs. 1 (0, 2); 3 (1, 4) vs. 2 (1, 3); 2 (0, 4) vs.1 (0, 3)), and the differences were statistically significant (FAS: Z=5.80, 5.91, 3.19, 3.72 and 3.30; PPS: Z=5.14, 5.11, 2.86, 3.21 and 2.84; all P<0.01). The results of FAS and PPS indicated that the improvement rates of main symptoms and each symptom (upper abdominal pain, upper abdominal burning, postprandial fullness and early satiety) of GWC group were all higher than those of the placebo group (FAS: 77.8% (54.6%, 91.3%) vs. 42.9% (28.6%, 61.5%); 100.0% (60.0%, 100.0%) vs. 50.0% (25.0%, 60.0%); 100.0% (50.0%, 100.0%) vs. 50.0% (25.0%, 100.0%); 71.4% (33.3%, 100.0%) vs. 41.4% (25.0%, 66.7%); 100.0% (50.0%, 100.0%) vs. 50.0% (20.0%, 100.0%). PPS: 77.8% (54.2%, 89.5%) vs. 44.0% (28.6%, 65.0%); 100.0% (60.0%, 100.0%) vs. 50.0% (25.0%, 100.0%); 100.0% (50.0%, 100.0%) vs. 50.0% (25.0%, 100.0%); 71.4% (33.3%, 100.0%) vs. 46.4% (25.0%, 66.7%); 100.0% (50.0%, 100.0%) vs. 50.0% (20.0%, 100.0%)), and the differences were statistically significant (FAS: Z=8.60, 7.72, 4.98, 4.24 and 5.61; PPS: Z=7.90, 7.03, 4.49, 3.88 and 4.83; all P<0.001). After 2 weeks of treatment, the differences of the total score of main symptoms and score of each symptom (upper abdominal pain, upper abdominal burning and early satiety) before and after treatment of GWC group were all higher than those of the placebo group (5.0 (3.0, 8.0) vs. 4.0 (2.0, 6.0); 2.0 (1.0, 2.0) vs. 2.0 (0.0, 2.0); 1.5 (0.0, 2.0) vs. 1.0 (0.0, 2.0); 1.5 (0.0, 2.0) vs. 1.0 (0.0, 2.0)), and the differences were statistically significant ( Z=2.95, 3.44, 2.43 and 2.79, all P<0.05). There was no significant difference in the incidence of adverse events between the GWC group and the placebo group (0.6%, 1/163 vs. 0, 0/159). Conclusion:The clinical total effective rate of GWC in the treatment of FD is superior to that of placebo and it has good safety.

8.
Chinese Journal of Digestion ; (12): 619-623, 2021.
Article in Chinese | WPRIM | ID: wpr-912218

ABSTRACT

Objective:To evaluate the diagnostic efficiency of hypersensitivity quantitative fecal immunochemical test (hs-qFIT) in colorectal cancer (CRC) and advanced adenoma.Methods:From July to December 2020, consecutive patients aged 50 to 75 years who underwent colonoscopy in Qilu Hospital of Shandong University, and had the Asia-Pacific colorectal screening score of medium or high risk were enrolled. All patients were requested to complete two hs-qFIT before colonoscopy. The diagnostic efficacy of hs-qFIT for CRC and advanced adenoma were assessed. Receiver operating characteristic curve of hs-qFIT in CRC diagnosis was drawn and the area under the curve (AUC) was calculated.Results:A total of 811 patients including 20 (2.5%) cases of CRC, 47 (5.8%) cases of advanced adenoma, 206 (25.4%) cases of non-advanced adenoma, 219 (27.0%) cases of non-adenomatous polyp, 76 (9.4%) cases of other colorectal lesions and 243 (30.0%) cases of non-colorectal lesions were involved. When the fecal hemoglobin cut-off values were 10, 30, 50, 75 and 100 ng/mL, the positive rates of hs-qFIT detection were 17.9% (145/811), 10.9% (88/811), 8.3% (67/811), 7.4% (60/811) and 5.8% (47/811), respectively. When the cut-off value of fecal hemoglobin decreased from 100 ng/mL to 10 ng/mL, the sensitivity of hs-qFIT for CRC diagnosis increased from 90.0% to 100.0%, and the specificity decreased from 96.3% to 84.2%; and the sensitivity of hs-qFIT for the diagnosis of advanced adenoma increased from 19.1% to 66.0%, and the specificity decreased from 95.0% to 85.1%. The AUC of hs-qFIT for the diagnosis of CRC and advanced adenoma were 0.981 (95% confidence interval ( CI) 0.970 to 0.992) and 0.846 (95% CI 0.807 to 0.886), respectively. When the optimal cut-off values were taken, the sensitivity and specificity were 100.0% and 91.2% for the diagnosis of CRC, and 66.0% and 85.3% for the diagnosis of advanced adenoma, respectively. Conclusion:Hs-qFIT can help the early screening of CRC and advanced adenoma.

9.
Chinese Journal of Radiological Medicine and Protection ; (12): 587-594, 2021.
Article in Chinese | WPRIM | ID: wpr-910361

ABSTRACT

Objective:To explore the effect of a Chinese medicinal composition ( Xiadanqi) on the prevention of radon exposure induced injuries of lung in vitro and in vivo. Methods:Mice were randomly divided into three groups of blank control group, radon-exposed group alone and radon-exposed group intervened with Chinese medicinal composition. The pathological changes of lung tissues in each group after 120 WLM were observed by HE and Masson staining, and the expressions of α-SMA protein and Vimentin protein in lung tissues were detected by immunohistochemistry staining. The levels of oxidative stress in lung tissue of each group were detected with SOD and MDA kits. At the same time, a radon exposed cell model and a radon exposure + Xiadanqi intervention cell model were constructed using an ecological radon chamber. The cell adhesion abilities of different groups were detected by an adhesion kit. The cell migration ability of each group was determined by the transwell migration experiment. The expression of E-cadherin and Vimentin protein was detected by Western blot. Results:Compared with the radon exposure group, the concentration of MDA was decreased ( t=4.43, P<0.05), the activity of SOD was increased ( t=3.22, P<0.05), and α-SMA and Vimentin protein expressions were decreased ( t=3.08, 7.57, P<0.05) in lung tissue of mice intervened with 2 mg/g Xiadanqi. In vitro, compared with radon exposure group, the migration ability was reduced ( t=4.78, 13.01, P<0.05), the cell adhesion property was enhanced ( t=3.41, 12.55, P<0.05), the expression of E-cadherin protein was increased ( t=2.96, 19.57, P<0.05), and the expression of Vimentin protein was obviously reduced ( t=21.00, 33.32, P<0.05) in radon-exposed cells with the treatment of Chinese medicine (150 μg/ml and 200 μg/ml). Conclusions:The Chinese medicinal composition ( Xiadanqi) has a certain radioprotective effect on radon exposure induced injury by reducing oxidative stress, attenuating EMT and fibrosis, and thus it may be applied as a protective agent for radon induced injury.

10.
Chinese Journal of Practical Nursing ; (36): 1551-1557, 2021.
Article in Chinese | WPRIM | ID: wpr-908116

ABSTRACT

Objective:To investigate the sedentary behavior of the elderly in Taiyuan nursing homes and analyze its influencing factors, so as to provide theoretical basis for the construction of targeted intervention programs for sedentary behavior.Methods:A total of 215 elderly people in 6 nursing homes in Taiyuan from October 2019 to January 2020 were investigated by general data questionnaire and sedentary behavior questionnaire. Descriptive analysis, single factor analysis and multiple linear stepwise regression analysis were used to explore the influencing factors of sedentary behavior.Results:The sedentary time of the elderly in Taiyuan nursing homes was (8.85±2.81) h/d, and 83% (174/209) of the elderly had a sedentary time≥6 h/d. Gender, age, type of disease, type of residence, sedentary hobby and environmental safety in homes were the important factors influencing sedentary behavior of the elderly in nursing homes( P<0.05). Conclusions:The sedentary behavior of the elderly in nursing homes is not optimistic. Targeted intervention measures should be taken to improve the sedentary behavior of the elderly and promote the healthy aging of the elderly in nursing homes.

11.
Chinese Journal of Medical Education Research ; (12): 350-355, 2021.
Article in Chinese | WPRIM | ID: wpr-883618

ABSTRACT

Objective:To compare the prediction efficiency of traditional linear regression model and four machine learning models on the learning behavior of clinical medical postgraduates, and to explore the pros and cons and applicability of different prediction models.Methods:A total of 6,922 clinical medical postgraduates were surveyed, their comprehensive learning behavior scores were obtained through the learning behavior scale. In the training set, Lasso linear regression and artificial neural network, decision tree, Bootstrap random forest, and lifting tree were used to build prediction models respectively. The above models were used to predict the validation set data and compare the prediction efficiency.Results:The comprehensive learning behavior score of clinical medical postgraduates was (3.31±0.54) points, and the overall compliance rate was 74.02%. In the linear regression model, the influence of age, school level, degree type, learning interest, pressure and satisfaction on learning behavior were statistically significant. In the prediction of validation set, the sensitivity, specificity, and accuracy of the linear regression model were 0.484, 0.914, and 0.801, respectively. The indexes of the four machine learning models were higher than those of the traditional linear regression model, and the Bootstrap random forest had the highest elevation.Conclusion:The linear regression model has a good prediction effect on learning behavior, and machine learning is superior to linear regression model in terms of accuracy of prediction. However, traditional linear regression models are superior to machine learning models in computational efficiency and interpretability.

12.
Chinese Journal of Medical Genetics ; (6): 1132-1135, 2021.
Article in Chinese | WPRIM | ID: wpr-922013

ABSTRACT

OBJECTIVE@#To explore the genetic etiology of a neonate with suggestive features of Cornelia de Lange Syndrome (CdLS).@*METHODS@#Chromosome karyotyping, copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) were carried out for the child. Meanwhile, peripheral venous blood samples were taken from his parents for verifying the suspected pathogenic variants detected in the child.@*RESULTS@#The child has exhibited developmental delay, microcephaly, ptosis, micrognathia, and low ear setting, and was suspected as CdLS. No abnormality was found by karyotyping and CNV-seq analysis. WES has detected 5 heterogeneous variants and 1 hemizygous variant on the X chromosome. Combining the genetic pattern and result of family verification, a hemizygous C.3500T>C (p.ile1167thr) of the SMC1A gene was predicted to underlay the clinical manifestations of the patient. This variant was not recorded in the dbSNP and gnomAD database. PolyPhen2, Provean, SIFT all predicted the variant to be harmful, and PhastCons conservative prediction is was a conservative mutation. ACMG variant classification standard evidence supports are PM2, PP2, and PP3.@*CONCLUSION@#The novel c.3500T>C (p.Ile1167Thr) missense mutation of the SMC1A gene probably underlay the genetic etiology of CdLS in this child. Above results has enriched the mutation spectrum of CdLS type II, and facilitated clinical counseling for this family.


Subject(s)
Child , Humans , Infant, Newborn , Cell Cycle Proteins/genetics , DNA Copy Number Variations , De Lange Syndrome/genetics , Mutation , Phenotype , Exome Sequencing
13.
Chinese Journal of Digestion ; (12): 751-757, 2020.
Article in Chinese | WPRIM | ID: wpr-871501

ABSTRACT

Objective:To develop intelligent quality-control system (IQCS) based on deep convolutional neural networks (DCNN), and to prospectively evaluate the clinical feasibility of this system.Methods:Aimed at quality control objectives during gastroscopy such as the observation integrity of gastric mucosal, gastric mucosa visibility, time spent on gastroendoscopy and suspicious gastric cancer detection, four DCNN models including gastroscopic scanning location recognition model, gastric mucosa visibility recognition model, in vivo and in vitro identification model and gastric cancer detection model were designed. A total of 98 385 white light gastroscopy images were retrospectively collected from multiple centers for training and testing the DCNN models. The accuracy, sensitivity and specificity of each model were calculated and the receiver operating characteristic (ROC) curve was drawn. The models were integrated and formed the multi-function integrated IQCS. At the center of gastroendoscopy, Qilu Hospital of Shandong University, 100 consecutive patients who underwent routine gastroscopy were prospectively enrolled. The feasibility of IQCS in real clinical practice was evaluated. The condition of each quality control function of the system (average error point out or correct rate) and the detection of lesions after the examination were recorded. Results:The accuracy, sensitivity and specificity of the model of gastroscopic scanning location recognition to identify each site were 98.40% to 99.85%, 61.95% to 100.00% and 98.65% to 100.00%, respectively; the area under curve (AUC) of ROC curve ranged from 0.997 6 to 1.000 0. The accuracy, sensitivity and specificity of the model of gastric mucosa visibility recognition to identity the mucosal visibility were 97.02% to 98.27%, 85.14% to 99.28% and 93.72% to 100.00%, respectively. The accuracy, sensitivity and specificity of the model of in vivo and in vitro identification were 97.27%, 99.85% and 94.50%, respectively; the AUC of ROC was 0.961 5. The accuracy, sensitivity and specificity of the model of gastric cancer detection were 95.92%, 95.64% and 96.05%, respectively; the AUC of ROC was 0.975 9. The results of feasibility evaluation of IQCS indicated that in the quality control of gastric mucosa observation integrity, the system average error was 0.32 time/case; in the quality control of mucosal visibility, the system average error was 0.47 time/case; the correct rate of intelligent timing during gastroscopy was 96.00%, in the quality control of suspicious gastric cancer detection, the system average error was 0.36 time/case. A total of 3 cases of gastric cancer and 1 case of high grade gastric intraepithelial neoplasia were detected. The system could accurately identify the location. Conclusions:Gastroscopy IQCS can accurately achieve quality control in the observation integrity of gastric mucosa, gastric mucosa visibility, time spent on gastroendoscopy and suspicious gastric cancer detection in actual examination, which makes accurate and efficient gastroscopy quality control possible.

14.
Allergy, Asthma & Immunology Research ; : 176-237, 2020.
Article in English | WPRIM | ID: wpr-785344

ABSTRACT

The current document is based on a consensus reached by a panel of experts from the Chinese Society of Allergy and the Chinese Society of Otorhinolaryngology-Head and Neck Surgery, Rhinology Group. Chronic rhinosinusitis (CRS) affects approximately 8% of Chinese adults. The inflammatory and remodeling mechanisms of CRS in the Chinese population differ from those observed in the populations of European descent. Recently, precision medicine has been used to treat inflammation by targeting key biomarkers that are involved in the process. However, there are no CRS guidelines or a consensus available from China that can be shared with the international academia. The guidelines presented in this paper cover the epidemiology, economic burden, genetics and epigenetics, mechanisms, phenotypes and endotypes, diagnosis and differential diagnosis, management, and the current status of CRS in China. These guidelines—with a focus on China—will improve the abilities of clinical and medical staff during the treatment of CRS. Additionally, they will help international agencies in improving the verification of CRS endotypes, mapping of eosinophilic shifts, the identification of suitable biomarkers for endotyping, and predicting responses to therapies. In conclusion, these guidelines will help select therapies, such as pharmacotherapy, surgical approaches and innovative biotherapeutics, which are tailored to each of the individual CRS endotypes.


Subject(s)
Adult , Humans , Asian People , Biomarkers , China , Consensus , Diagnosis , Diagnosis, Differential , Drug Therapy , Eosinophils , Epidemiology , Epigenomics , Genetics , Hypersensitivity , Inflammation , International Agencies , Medical Staff , Neck , Phenotype , Precision Medicine
15.
Chinese Journal of Medical Education Research ; (12): 889-892, 2019.
Article in Chinese | WPRIM | ID: wpr-797450

ABSTRACT

Medical education reform mainly focused on the reform of the form and method of teaching but neglected the reform of the teaching concept that has truly penetrated into all aspects of teaching. With reference to the reflection on the teaching goal of physiology and the need of the cultivation of "post competency", the core concepts of physiological teaching are summarized into the following four aspects: "Three Outlooks" must be positive to help students establish a balanced view, a dialectical view, and a holistic view; "Three Fundamentals" should be solid to help students master basic knowledge structure system, cultivate basic knowledge acquisition ability, and improve basic operation skills; students should attach importance to learning and use; humanistic quality should be strengthened. The above core concepts have been widely recognized by students in teaching practice, and clinical medical students have significantly better evaluation of the core concepts than nursing students. Future direction of the subsequent teaching reform should be how to refine the contents of lectures under the guidance of the teaching concepts to adapt to the increasingly detailed specialities.

16.
Chinese Journal of Medical Education Research ; (12): 889-892, 2019.
Article in Chinese | WPRIM | ID: wpr-790253

ABSTRACT

Medical education reform mainly focused on the reform of the form and method of teaching but neglected the reform of the teaching concept that has truly penetrated into all aspects of teaching. With reference to the reflection on the teaching goal of physiology and the need of the cultivation of "post competency", the core concepts of physiological teaching are summarized into the following four aspects: "Three Outlooks" must be positive to help students establish a balanced view, a dialectical view, and a holistic view; "Three Fundamentals" should be solid to help students master basic knowledge structure system, cultivate basic knowledge acquisition ability, and improve basic operation skills; students should attach importance to learning and use; humanistic quality should be strengthened. The above core concepts have been widely recognized by students in teaching practice , and clinical medical students have significantly better evaluation of the core concepts than nursing students . Future direction of the subsequent teaching reform should be how to refine the contents of lectures under the guidance of the teaching concepts to adapt to the increasingly detailed specialities.

17.
Chinese Journal of General Practitioners ; (6): 479-482, 2019.
Article in Chinese | WPRIM | ID: wpr-745904

ABSTRACT

Clinical data of 12 cases of Trousseau syndrome with cerebral infarction as initial presentation admitted in the neurology department of the Fourth Affiliated Hospital of Hebei Medical University from December 2011 to December 2017 were retrospectively analyzed.Of the 12 patients,4 cases had risk factors for cerebral infarction and 8 ones had no risk factors.There were 2 patients with 1 lesion and 10 patients with two or more lesions in brain imaging.The infarction lesions of 9 patients were located in 2 or more arterial blood supply areas.Ten patients showed an elevated plasma D-dimer level,5 had elevated fibrinogen level,7 showed increased blood platelet count and 8 had increased homocysteine level.Ten cases were confirmed by pathology,2 cases by clinic and imaging diagnosis.The study suggests that multiple lesions with several cerebral arteries involved,high plasma D-dimer and fibrinogen levels may be the clinical characteristics of Trousseau syndrome with initial presentation as acute ischemic stroke and lacking of risk factors.The hypercoagulation state may be the important pathogenesis of this disorder.

18.
International Journal of Cerebrovascular Diseases ; (12): 909-913, 2019.
Article in Chinese | WPRIM | ID: wpr-800694

ABSTRACT

Stroke seriously endangers people's life and health because of its high prevalence, disability and recurrence rate. Among them, large vessel occlusive stroke (LVOS) has the worst outcome. Rapid recovery of cerebral perfusion is the key to improve the outcomes of patients with LVOS. As a new type of treatment, endovascular treatment can effectively recanalize the occluded blood vessels and extend the treatment time window. The level of collateral circulation determines the severity of symptoms, treatment choices, treatment effects and outcomes in patients with LVOS. This article summarizes the clinical factors related to collateral circulation compensation in patients with LVOS, and focuses on the application value of imaging technology in the evaluation of collateral circulation.

19.
Allergy, Asthma & Immunology Research ; : 300-353, 2018.
Article in English | WPRIM | ID: wpr-716009

ABSTRACT

Allergic rhinitis (AR) is a global health problem that causes major illnesses and disabilities worldwide. Epidemiologic studies have demonstrated that the prevalence of AR has increased progressively over the last few decades in more developed countries and currently affects up to 40% of the population worldwide. Likewise, a rising trend of AR has also been observed over the last 2–3 decades in developing countries including China, with the prevalence of AR varying widely in these countries. A survey of self-reported AR over a 6-year period in the general Chinese adult population reported that the standardized prevalence of adult AR increased from 11.1% in 2005 to 17.6% in 2011. An increasing number of original articles and imporclinical trials on the epidemiology, pathophysiologic mechanisms, diagnosis, management and comorbidities of AR in Chinese subjects have been published in international peer-reviewed journals over the past 2 decades, and substantially added to our understanding of this disease as a global problem. Although guidelines for the diagnosis and treatment of AR in Chinese subjects have also been published, they have not been translated into English and therefore not generally accessible for reference to non-Chinese speaking international medical communities. Moreover, methods for the diagnosis and treatment of AR in China have not been standardized entirely and some patients are still treated according to regional preferences. Thus, the present guidelines have been developed by the Chinese Society of Allergy to be accessible to both national and international medical communities involved in the management of AR patients. These guidelines have been prepared in line with existing international guidelines to provide evidence-based recommendations for the diagnosis and management of AR in China.


Subject(s)
Adult , Humans , Asian People , China , Comorbidity , Developed Countries , Developing Countries , Diagnosis , Epidemiologic Studies , Epidemiology , Global Health , Hypersensitivity , Prevalence , Rhinitis, Allergic
20.
Chinese Journal of Digestive Endoscopy ; (12): 266-269, 2018.
Article in Chinese | WPRIM | ID: wpr-711515

ABSTRACT

Objective To evaluate the feasibility of needle-based confocal laser endomicroscopy (nCLE) for imaging of intra-abdominal tissues and organs in rabbit models in vivo. Methods The nCLE miniprobe was inserted through the 19-gauge needle into various intra-abdominal tissues and organs[omentum majus, liver, pancreas and psoas major (skeletal muscle)]. The nCLE images were acquired and real-time sequences of respective locations were recorded. Finally, nCLE image characteristics were compared with histopathologic findings. Results nCLE was successfully performed in intra-abdominal tissues and organs of five rabbit models. The microscopic structures of cells, glands and microvessels in the omentum majus, liver, pancreas and psoas major ( skeletal muscle) were visualized clearly, respectively. Characteristics of various intra-abdominal tissues and organs were displayed on nCLE images, which were correlated well with histological findings. Conclusion Imaging of intra-abdominal tissues and organs with nCLE in vivo is feasible in future clinical practice.

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