OBJECTIVE: To analyze variant of LDLR gene in a patient with familial hypercholesterolemia (FH) in order to provide a basis for the clinical diagnosis and genetic counseling. METHODS: A patient who had visited the Reproductive Medicine Center of the First Affiliated Hospital of Anhui Medical University in June 2020 was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was applied to the patient. Candidate variant was verified by Sanger sequencing. Conservation of the variant site was analyzed by searching the UCSC database. RESULTS: The total cholesterol level of the patient was increased, especially low density lipoprotein cholesterol. A heterozygous c.2344A>T (p.Lys782*) variant was detected in the LDLR gene. Sanger sequencing confirmed that the variant was inherited from the father. CONCLUSION The heterozygous c.2344A>T (p.Lys782*) variant of the LDLR gene probably underlay the FH in this patient. Above finding has provided a basis for genetic counseling and prenatal diagnosis for this family.
Humans ; Cholesterol, LDL/genetics* ; Heterozygote ; Hyperlipoproteinemia Type II/genetics* ; Mutation ; Pedigree ; Phenotype ; Receptors, LDL/genetics*

PURPOSE: Studies suggest that regular use of metformin may decrease cancer mortality. We investigated the association between diabetes medication use and cancer survival. MATERIALS AND METHODS: The current study includes 633 breast, 890 colorectal, 824 lung, and 543 gastric cancer cases identified from participants of two population-based cohort studies in Shanghai. Information on diabetes medication use was obtained by linking to electronic medical records. The associations between diabetes medication use (metformin, sulfonylureas, and insulin) and overall and cancer-specific survival were evaluated using time-dependent Cox proportional hazards models. RESULTS: After adjustment for clinical characteristics and treatment factors, use of metformin was associated with better overall survival among colorectal cancer patients (hazards ratio [HR], 0.55; 95% confidence interval [CI], 0.34 to 0.88) and for all four types of cancer combined (HR, 0.75; 95% CI, 0.57 to 0.98). Ever use of insulin was associated with worse survival for all cancer types combined (HR, 1.89; 95% CI, 1.57 to 2.29) and for the four cancer types individually. Similar associations were seen for diabetic patients. Sulfonylureas use was associated with worse overall survival for breast or gastric cancer (HR, 2.87; 95% CI, 1.22 to 6.80 and HR, 2.05; 95% CI, 1.09 to 3.84, respectively) among diabetic patients. Similar association patterns were observed between diabetes medication use and cancer-specific survival. CONCLUSION: Metformin was associated with improved survival among colorectal cancer cases, while insulin use was associated with worse survival among patients of four major cancers. Further investigation on the topic is needed given the potential translational impact of these findings.
Breast ; Cohort Studies ; Colorectal Neoplasms ; Electronic Health Records ; Humans ; Insulin ; Lung ; Metformin ; Mortality ; Proportional Hazards Models ; Stomach Neoplasms

Objective: To study the correlation between job satisfaction and work effectiveness of ICU specialist nurses, to clarify the baseline level and influence factors, to increase the efficiency and satisfaction of the work, and to stabilize the ICU nurse team, to improve the quality of care. Methods: The convenience sampling method was used to select 116 specialist nurses from the 3 three grade ICU hospitals in Guangzhou. Through the questionnaire survey of nurses′ general situation, work efficiency and job satisfaction, the methods of descriptive statistics, average number, standard deviation analysis, simple linear regression model analysis and multiple linear regression analysis were adopted to reveal the relationship between work effectiveness and job satisfaction of specialist nurses. Results: The overall empowerment of ICU specialist nurses was 3.37 ±0.68. In the 6 dimensions of work efficiency, the average score of formal authorization was the lowest (3.01±0.93) and that of informal authorization was the highest (3.73±0.77). Multiple linear regression analysis showed that job satisfaction of nurses increased linearly with the increase of the scores of formal authorization and informal authorization (t=2.32, 3.78,P < 0.05). The total score of satisfaction was 55.03± 8.30. The work status dimension score was 35.16± 5.94, in the middle level limit; the work interpersonal relationship dimension score was 19.87 ± 2.82, in the high level. The work status satisfaction lagged behind the work interpersonal relationship satisfaction. Simple linear regression model analysis showed that the total score of satisfaction increased linearly with the average score of work efficiency, showing a positive linear correlation (t=9.891,P < 0.01). The regression equation was: y=27.12+8.273. Conclusions Because of the linear positive correlation between job efficacy and total score of satisfaction, nursing administrators should fully grasp the various factors affecting job efficacy in clinical management, and take targeted measures to improve the work efficiency of ICU specialist nurses, and ultimately improve the job satisfaction of nurses.

Objective: To investigate the application of clohexidine wipes in patients after liver transplantation and the effect of infection prevention. Methods: A total of 279 patients who received orthotopic liver transplantation in the first affiliated hospital of sun yat-sen university from January 2017 to December 2018 and were transferred to the intensive care department of our hospital after the surgery were selected as subjects. Among them, 145 patients who received liver transplantation between January and December 2017 were selected as the control group. From January to December, 2018, 134 patients after liver transplantation were enrolled as the intervention group, and were treated with clohexidine 2% gluconate wet wipes, and the hospital infection rate, infection rate, multiple drug-resistant bacteria infection rate, bath time consumption, and adverse reaction rate were compared between the two groups. Results: The hospital infection rate of the control group was 20.00% (29/145), the infection rate of patients was 37.93%(55/145), the infection rate of multiple drug-resistant bacteria was 25.52%(37/145), and the infection rate of the intervention group was 11.19% (15/134), 24.63% (33/134), 14.93% (20/134). The differences were statistically significant (χ²=4.065, 5.709, 4.806, P<0.05). The bath time of the control group was (16.70±1.42) minutes, and the intervention group was (14.07±1.53) minutes. Compared with the control group, the bath time of the intervention group was saved, and the difference was statistically significant (t=9.637, P<0.01).No discomfort symptoms such as disinfectant allergy were found in both groups. Conclusion The application of clohexidine 2% gluconate wet wipes in the wiping bath of patients after liver transplantation had a good effect, significantly reducing the hospital infection rate, saving the time of wiping bath.

Objective To establish a set of ICU care quality indicators real-time monitoring information system. Methods Based on the evaluation index system of ICU nursing safety quality, the real-time monitoring information system of ICU nursing quality indicators is established which quality evaluation index of structure quality、process quality and outcome quality is planted. To investigate the satisfaction of ICU medical staff in the use of informatization system and compare the quality of care quality before and after the use of the system. Results The satisfaction of ICU nurses in reducing working load, recording time, operation convenience, parameter acquisition and quality index monitoring were all greater than 90％. System before and after six months of intensive medicine nursing quality indicators, the overall quality had improved.The rate of ventilator recumbent incorrect position, the nonconformity rate of oral cavity clean, incidence of catheter-associated urinary tract infections, incidence of central line-associated bloodstream infection, incidence of ventilator associated pneumonia before information system were 2.03％ (118/5806), 0.53％ (10/1883), 0.51‰(4/7818), 0, 1.55‰(9/5614), which were lower than 4.90％(275/5614), 3.92％(69/1734), 3.12‰(24/7685), 1.06‰(8/7547), 4.81‰(27/5614) after six months (χ2=8.16-70.56, P<0.01).The accidental release rate of artificial airway was not statistically significant (P> 0.05). Conclusion The ICU nursing quality indicator real- time monitoring information system makes nursing management digital, improves the satisfaction of medical staff, and significantly improves the quality of care.

ICU nursing is a vitalpartof the development of specialized nursing in China, and the standardized training of the corecompetence of ICU nurses is the primary goal of the development of ICU nursing. This paper took the First Affiliated Hospital of Sun Yat-sen University in China and the Royal Free Hospital in London, the United Kingdom as example, and compared the hierarchical management and core competencies training status of ICU nurses in China and England to find out the similarities and differences, and then to put forward valuable suggestions for hierarchical management and the core competence training of ICU nurses in China.

OBJECTIVEOptical coherence tomography images may be distorted by motion artifacts in dynamic imaging, so it may lead to misdiagnosis in clinical diagnosis. Motion artifacts correction has become an urgent issue in optical coherence tomography imaging.

METHODSFirstly, using the improved complex nonlinear diffusion preprocessing filtering reduced the noise of the sequence images, then using the image mass center aligned the distortion data in the Y direction, finally, using the method of deviation average corrected motion artifacts along the Y direction.

RESULTSAfter correction, the motion artifacts in the longitudinal 2D images and the 3D image disappeared, the surface of the 2D and the 3D image became more smooth, the structure between layers of the images got clear and distinct, retinal en-face single slice image was sharp, and the fundus tissue structure could be observed.

CONCLUSIONThe algorithm of correction makes the physical structure of the retinal display truly after motion artifacts correction.

Algorithms ; Artifacts ; Humans ; Imaging, Three-Dimensional ; Motion ; Retina ; anatomy & histology ; Tomography, Optical Coherence

Objective Optical coherence tomography images may be distorted by motion artifacts in dynamic imaging, so it may lead to misdiagnosis in clinical diagnosis. Motion artifacts correction has become an urgent issue in optical coherence tomography imaging. Methods Firstly, using the improved complex nonlinear diffusion preprocessing filtering reduced the noise of the sequence images, then using the image mass center aligned the distortion data in the Y direction, final y, using the method of deviation average corrected motion artifacts along the Y direction. Results After correction, the motion artifacts in the longitudinal 2D images and the 3D image disappeared, the surface of the 2D and the 3D image became more smooth, the structure between layers of the images got clear and distinct, retinal en-face single slice image was sharp ,and the fundus tissue structure could be observed. Conclusion The algorithm of correction makes the physical structure of the retinal display truly after motion artifacts correction.

OBJECTIVEThe aim of this study was to find out the value of chromosome aneuploidy in early diagnosis and prediction of postoperative recurrence of gastric adenocarcinoma (GAC).

METHODSTissue samples, including 49 GAC, pairing pericancerous mucosa and normal gastric mucosa from the distant cutting margin were use in this study. Two centromere probes, Cen11 and Cen20 specific for chromosomes 11 and 20 were analyzed by FISH . The clinicopathological data were summarized.

RESULTSThe incidence of aneuploidy of chromosome 11 in the tumors, pericancerous mucosa and normal gastric mucosa from the distant cutting margin were 83.7%, 40.8%, and 16.3%, respectively (P < 0.001), and those of chromosome 20 were 87.8%, 53.1%, and 16.3%, respectively (P < 0.001). The aneuploidy of Cen 11 displayed a significant correlation with Lauren's claasification, and lymph node metastasis (P < 0.05 for both). The pericancerous mucosa and normal gastric mucosa from the distant cutting margin displayed mainly chronic inflammatory changes, intestinal metaplasia and dysplasia.

CONCLUSIONSAneuploidy of Cen11 and Cen20 in pericancerous mucosa may be used as a candidate marker for early diagnosis of gastric adenocarcinoma and may have a predictive value of postoperative recurrence.

Adenocarcinoma ; diagnosis ; genetics ; Aneuploidy ; Chromosomes, Human, Pair 11 ; Gastric Mucosa ; Humans ; Lymphatic Metastasis ; Neoplasm Recurrence, Local ; diagnosis ; genetics ; Stomach Neoplasms ; diagnosis ; genetics

OBJECTIVEUsing the algorithm on the layered structure of the retina and quantitative analysis of the automatic segmentation technique is the key to the early diagnosis of glaucoma and other retinopathy on optical coherence tomography. Existing methods require high quality image and have low reliability. This paper used the improved complex nonlinear diffuse filtering and other methods to solve this problem.

METHODSThis paper includes algorithm such as automatic threshold, improved complex nonlinear diffusion filtering, morphological operations and peak detection. Use the method for the segmentation of 20 retinal layers images which acquired on the self-builder OCT system, the boundary of inner limiting membrane(ILM), outer nuclear layer(ONL), the photoreceptor segments(IS/ OS) and the RPE_ChCap layer are detected accurately. At last, the photoreceptor layer thickness is measured.

RESULTSThe results of segmentation and measurement are good corresponded with expert manual segmentation and measurements, retinal foveal measurements data is consistent with Zeiss Stratus OCT central retinal thickness 212+/-20 micro m.

CONCLUSIONThe algorithm proposed is prospective applied to clinical diagnosis of retinal diseases.

Algorithms ; Humans ; Retina ; anatomy & histology ; Software ; Tomography, Optical Coherence ; instrumentation ; methods