Objective:To explore the clinical features and pathogenic causes of a Chinese Han family with Wagner syndrome, and to analyze the relationship between VCAN gene mutation and patient phenotype. Methods:The method of family pedigree investigation was adopted.A Chinese Han family with Wagner syndrome in 3 generations including 13 family members was collected in Xiamen Eye Center of Xiamen University in January 2020, and 5 patients from 3 generations were diagnosed.All members underwent a comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, intraocular pressure, slit lamp microscopy, and ophthalmoscopy to analyze the condition of anterior segment and fundus.Anterior segment photography, fundus photography, optical coherence tomography and ultrasound biological microscopy were carried out in the proband and some patients to analyze the condition of anterior segment, fundus and anterior chamber angle.The peripheral venous blood of all family members was collected for genomic DNA extraction, and pathogenic gene variation analysis for verification was through high-throughput target region capture sequencing and Sanger sequencing.Variants were scored using the American College of Medical Genetics and Genomics (ACMG) guidelines, and the structure and function of variants were predicted through PredictProtein.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.MR-35-22-002800).Written informed consent was obtained from each subject.Results:The Chinese pedigree with Wagner syndrome was in accordance with autosomal dominant inheritance pattern, and all patients had no history of systemic disease or other abnormal manifestations.The common ophthalmic features of the patients were abnormal suspensory ligament, premature cataract, vitreous cavity, vitreous condensation, veil-like proliferative membrane in the vitreous cavity, retinal choroid atrophy and thinning, tractional retinal detachment, and retinal pigmentation.The proband had binocular cataract surgery, and binocular intraocular lens dislocation occurred after the operation.Genetic analysis revealed that a heterozygous splice site variation c.9265+ 1G>A in the VCAN gene in this family was co-segregated with the disease phenotype and graded as a likely pathogenic variant by the ACMG guidelines.This variant base pair substitution could cause the formation of a protein product with 1 754 amino acids shorter, resulting in insufficient haploid dosage and severe reduction of glycosaminoglycan attachment sites, making the versican protein dysfunctional. Conclusions:It is the first time to report a Chinese family with Wagner syndrome in China, and it is confirmed that the family has a heterozygous variation in the VCAN gene c.9265+ 1G>A by molecular genetic analysis.

Objective:To investigate the resilience level and self-management status of patients with type 2 diabetes and analyze the mediating effect of mindfulness level between the resilience and self-management behavior.Methods:Totally 219 patients with type 2 diabetes from December 2019 to April 2020 were selected as the research subjects.The general information questionnaire, Mindful Attention Awareness Scale, Connor-Davidson Resilience Scale, and the Summary of Diabetes Self-Care Activities were used to investigate all patients.SPSS 22.0 was used for statistical analysis.Spearman correlation analysis was used to analyze the relationship among the variables, and multiple linear stepwise regression analysis was used to analyze the mediating effect.Results:The correlation analysis showed that resilience(45.0 (40.0, 50.0)) was positively related to self-management(14.0 (9.0, 22.0)) ( r=0.876, P<0.05), and mindfulness(46.0 (40.0, 57.0)) ( r=0.838, P<0.05). Mindfulness was positively related to self-management( r=0.821, P<0.05). The mediating effect test showed that mindfulness played a part of mediating role between resilience and self-management, with the mediation effect of 0.56, accounted for 69.80% of the total effect. Conclusion:The variables of mindfulness, mental resilience and self-management behavior in type 2 diabetic patients are positively correlated with each other.Mindfulness plays a partial mediating role between mental resilience and self-management behavior.

This study aimed to evaluate the efficacy of Chinese herbal medicine (CHM) in patients with severe/critical coronavirus disease 2019 (COVID-19). In this retrospective study, data were collected from 662 patients with severe/critical COVID-19 who were admitted to a designated hospital to treat patients with severe COVID-19 in Wuhan before March 20, 2020. All patients were divided into an exposed group (CHM users) and a control group (non-users). After propensity score matching in a 1:1 ratio, 156 CHM users were matched by propensity score to 156 non-users. No significant differences in seven baseline clinical variables were found between the two groups of patients. All-cause mortality was reported in 13 CHM users who died and 36 non-users who died. After multivariate adjustment, the mortality risk of CHM users was reduced by 82.2% (odds ratio 0.178, 95% CI 0.076-0.418; P < 0.001) compared with the non-users. Secondly, age (odds ratio 1.053, 95% CI 1.023-1.084; P < 0.001) and the proportion of severe/critical patients (odds ratio 0.063, 95% CI 0.028-0.143; P < 0.001) were the risk factors of mortality. These results show that the use of CHM may reduce the mortality of patients with severe/critical COVID-19.
Age Factors ; Aged ; COVID-19/therapy* ; China ; Drugs, Chinese Herbal/therapeutic use* ; Female ; Humans ; Male ; Medicine, Chinese Traditional ; Middle Aged ; Odds Ratio ; Propensity Score ; Retrospective Studies ; Survival Rate

Objective To investigate the caring experiences of family caregivers of patients with enterostomy in different stages based on"Timing It Righ"framework. Method Phenomenological research method was used to conduct an unstructured interview with 40 caregivers of patients in different stages (perioperative period, discharge preparation period, adjustment period and adaptation period).The acquired data were analyzed by Colaizzi phenomenological research method. Result According to the"Timing It right"framework, five themes about nursing experience of caregivers of patients with enterostoma at different stages were extracted: 1) uncertainty of disease and post-traumatic stress disorder at the perioperative period; 2) Re-challenges after subjective initiative adjustment during the discharge preparation period; 3) practice and re-cognition during the adjustment period; 4) post-traumatic growth during the adaptation period.Conclusions The caregiver's experience of an enterostomal patient presents a dynamic process. There are different experiences and needs for inner-heart care in different stages.Family caregivers were with strong information and emotion need at the perioperative period;they were with strong helpless feeling during the dischsrge preparation;they were with information and stoma instrument need in adjustment period;they were with care ability need during adaption period. Nursing staff should provide relevant mental support and professional guidance up to the different stages so as to improve mental health of caregivers of stoma patients and enhance their knowledge and skills on care-giving.

Objective To investigate how surgical patients are assessed regarding pressure ulcer risks and the usage of evaluation tools in different stages during perioperative period.Methods Totally 210 nurses from operating rooms and surgical wards in 7 tertiary hospitals of Jiangsu Province were investigated with self-designed questionnaire.Results Operating room nurses of 7 hospitals used different kinds of scales for pressure ulcer risk assessment,the same scale document was used during the different stages of operation,the frequency and time for pressure ulcer risk assessment varied from one to three times,preoperative visit to handover in surgical ward were different;the Braden scale was used by surgical nurses to evaluate pressure ulcer risk after operation,while most surgical nurses believed that the existing scale lacked specificity and intraoperative risk factors that should be considered when assessing postoperative patients.Conclusion The frequency and time of pressure ulcer risk assessment of patients during perioperative period are not standardized,the content of scale is limited and lacks specificity,the assessment of pressure ulcer risk during perioperative period is discontinuous and non-dynamic.There are no specific risk assessment scales targeting preoperative,intraoperative and postoperative pressure ulcer risk assessment.

Objective To reduce the incidence rate of peritonitis by using "disease-characteristics nursing quality improvement" program(DNQIP)of peritonitis-related peritoneal dialysis.Methods A specialized administration group drew up a blueprint of DNQIP on peritonitis-related peritoneal dialysis in 2011. Continuing quality improvement was given to long-term followed-up patients from 2012 to 2015,and the incidence rate of peritonitis was calculated. Harmony degree,initiative,sense of responsibility,communication ability,emotion,team spirit,competence in dealing issues,and work load of specialized nurses before and after the implementation of project were evaluated.Results The incidence rates of peritonitis were 64.38,66.43, 73.13,and 84.97 patient/month in 2012,2013,2014,and 2015. Nurses self-evaluation results showed that the score of competence in dealing issues in 2012 was(3.75±0.50),the score had risen in 2015(4.75±0.50) (P=0.046). The difference in other aspects was not significant(P>0.05).Conclusions DNQIP in peritonitis-related peritoneal dialysis is effective in reducing general incidence rate of peritonitis,and improving the competence of dealing issues for nurses and promoting the regular update of clinical nursing.

OBJECTIVE To observe the regulation effect of chidamide on energy metabolism in HCT-8 and HT-29 cells. METHODS HCT-8 and HT-29 cells were treated with chidamide 5,10 and 20 μmol · L-1. Morphological changes of these cells were observed under an ordinary optical microscope. Cell proliferation was detected by MTT. ATP production was determined by CellTiter-Glo? assay kit. Metabolic changes were tested by glycolytic stress kit. The mRNA level of lactate dehydrogenase A (LDH-A)was analyzed by real-time quantitative PCR,whereas the protein level of LDH-A was analyzed by Western blotting. RESULTS Compared with control group,cell morphology of HCT-8 and HT-29 cells in chidamide treated group was irregular,accompanied by deformation,shrinkage and cell debris, and the inhibitory rate of proliferation increased(P<0.05). There was no significant difference in ATP total content between chidamide 5 and 10 μmol · L-1 16 h treatment groups,but in chidamide 20 μmol · L-1 treatment group it was decreased(P<0.05). Chidamide 20μmol · L-1 had no effect on oxygen consumption rate, but glycolysis ATP generation rate was reduced by 30.7% and 37.9%(P<0.05),respectively. Chidamide 20μmol · L-1 had no effect on LDH-A mRNA level,but it decreased the protein level of LDH-A(P<0.01). CONCLUSION Chidamide can abate the respiratory metabolic ability of HCT-8 and HT-29 cells. The mechanism may be related to the down-regulation of LDH-A.

Objective: To investigate the expression of gluconeogenic enzymes phosphoenolpyruvate carboxykinase (PEPCK) and G-6-Pase mRNA of hepatic tissue in rats with intrauterine growth retardation (IUGR) and to explore the molecular mechanism of insulin resistance in IUGR rats. Methods: Pregnant rats were randomly divided into 2 groups: a normal group and a model group. hTe normal group were fed with 21% protein forage and the model group with 10% low protein forage to obtain IUGR pup rats. hTe pup rats were introduced to the normal group and the IUGR group prospectively. At 1, 3 and 8 weeks, the body weight, blood glucose, insulin concentration andinsulin resistance index of the pup rats were measured. Expression of PEPCK and G-6-Pase mRNA were detected by RT-PCR. Results: The birth weight of the IUGR group was significantly lower than that of the normal group (P<0.001). The weight of the IUGR group was still lower than that of the normal group at 1, 3 and 8 weeks. There was no significant difference in the blood glucose, insulin level and insulin resistance index between the 2 groups (P>0.05). The hepatic expression of PEPCK and G-6-Pase mRNA in the IUGR group was significantly higher than that of the normal group at 1, 3 and 8 weeks (P<0.01). Conclusion: The significantly increased expression of PEPCK and G-6-Pase mRNA of hepatic tissue in IUGR rats may increase gluconeogenesis, which is probably one of the molecular mechanisms of insulin resistance and diabetes in IUGR.

To explore the relationship between syndromes of traditional Chinese medicine (TCM) and genetic background in patients with beta-thalassemia.

OBJECTIVE: To investigate the clinical efficacy and safety of Yisui Shengxue Granule (YSSXG), a compound traditional Chinese herbal medicine for reinforcing kidney and nourishing blood, in treating hemoglobin H (HbH) disease. METHODS: YSSXG was given orally to 25 patients with HbH disease in Guangxi Zhuang Autonomous Region (high incidence area for HbH disease in China) for 3 months as one therapeutic course, 3 times a day, 10 g YSSXG was given each time (dose of YSSXG for children should be reduced properly), and blood transfusion was not given to HbH patients during the course of treatment. The levels of hemoglobin (Hb), red blood cell (RBC), HbH and reticulocyte (Ret) were observed before and after YSSXG treatment, and side effects were observed during the course of treatment. Meanwhile, the genotype was examined, and the clinical efficacy of YSSXG in treating HbH patients with different genotype was evaluated. RESULTS: The levels of Hb, RBC and Ret were obviously increased after YSSXG treatment from the first month to the end of treatment (P<0.01). After YSSXG treatment, the levels of Hb, RBC, Ret in 12 HbH patients with gene deletion were elevated (P<0.05, P<0.01), and the levels of Hb and Ret in 13 HbH patients with gene non-deletion were increased obviously (P<0.05, P<0.01). The total response rate was 84% after 3-month treatment, and there was no statistical difference in clinical efficacy between gene deletion HbH patients and non-deletion HbH patients. No adverse effect was observed during the course of treatment. CONCLUSION: YSSXG is effective and safe for treatment of HbH disease. YSSXG can improve the levels of Hb, RBC and Ret in HbH patients, especially in gene deletion HbH patients.