Based on the traditional Chinese medicine theory that "all pain， itching， and sores are related to the heart"， this paper proposes treating recurrent aphthous ulcers from the perspective of the heart. It suggests that excessive heart fire and tissue erosion due to flaming fire in the heart meridian constitute the core pathogenesis of this condition. Hyperactive heart fire is identified as the key pathogenic factor， while heart yin deficiency， obstruction of the heart collaterals， and malnourishment of the heart spirit are considered significant contributing factors. Clinically， the treatment follows the principle of clearing heart fire as the main strategy， supplemented by nourishing yin， activating collaterals， and calming the spirit. The self-formulated Qingxin Yuchuang Formulation （清心愈疮方） serves as the base prescription， with flexible modifications incorporating the Yuyin Formulation （育阴方）， Huoxue Formulation （活血方）， and Yu'an Formulation （郁安方） to address specific syndromes involving heart yin deficiency， collateral blockage， and emotional disturbance.

Informed consent is an important ethical symbol in clinical research,and researchers have the responsibility to fully inform participants of the research information before conducting clinical research.However,it is difficult to obtain complete informed consent form participants or their guardians within a narrow treatment time period in clinical research conducted in emergency situations.Currently,in addition to traditional general informed consent,there are also reality-accepted informed consent,including exemption of informed consent,broad informed consent,and deferred informed consent.By introducing the origin and development process of deferred informed consent in clinical research,this paper sorted out the current application status of deferred informed consent,proposed the prerequisites for applying deferred informed consent in emergency situations,and explored the issues that need to be noted during the application process of deferred informed consent.It is hoped to provide an ethical defense and ethical procedure for the application of deferred informed consent in clinical research in emergency situations.

Objective To explore the polymorphism of microbial community after laparoscopic abdominal exploration by using bacterial 16s ribosomal DNA (16S rDNA) sequencing technology. Methods New Zealand rabbits were divided into model group and control group. The rabbits in the model group were operated by portable laparoscopy, and the rabbits in the control group were not treated. One week later, the peritoneal effusions of the model group and the control group were taken for 16S rDNA sequencing to analyze the microbial community polymorphism. To explore the changes of microbial community in peritoneal effusion in the model group compared with the control group. Results After 16S rDNA sequencing, bioinformatics was used to determine the microbial communities. Inter group difference analysis showed a good similarity of microbial communities between the two groups. OTU taxonomic analysis and species composition analysis (Rank-Abundance curve and Venn diagram) found that the microbial community level of the model group was significantly higher than that of the control group. Alpha diversity analysis (Sobs, Ace, Shannon, Simpson) showed that the richness and diversity of microbial community in the model group were higher than those in the control group. Microbial composition analysis showed that the number of miscellaneous bacteria in the model group increased by about 30% compared with the control group. The species differences between the two groups were tested for significance. It was found that Pasteurellales, Neisseria and Tsukamurella increased significantly. Conclusion The diversity of microbial communities in peritoneal effusion increases after laparoscopic abdominal exploration in New Zealand rabbits, and the most significant increases are Pasteurella, Neisseria and Tsukamura.

Antibodies, Neutralizing ; Antibodies, Viral/isolation & purification* ; B-Lymphocytes/virology* ; COVID-19/virology* ; Humans ; Immunity/genetics* ; RNA, Viral/immunology* ; SARS-CoV-2/pathogenicity* ; Single-Cell Analysis

Objective:To investigate the clinical and genetic characteristics of developmental and epileptic encephalopathy (DEE) caused by syntaxin-binding protein 1 (STXBP1) gene mutation.Methods:The clinical data, gene variation and treatment outcome of 15 children with STXBP1 encephalopathy admitted to Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2014 to June 2019 were analyzed retrospectively.Results:Among 15 patients, 11 were male and 4 were female, age ranged from 2 months to 69 months. The clinical manifestations of 14 children were epilepsy and developmental delay (DD) and the remaining one showed developmental delay without seizure. The onset age of epilepsy ranged from two days to 19 months and 11 of them experienced the first attack before 1 year of age. The common seizure types were epileptic spasms and tonic seizures. Seven patients were diagnosed with Ohtahara syndrome or West syndrome. Epileptic form discharges were observed in the interictal electroencephalograms (EEG) of 11 patients, including multifocal discharges, suppression-burst and hypsarrhythmia. The brain magnetic resonance imaging of 7 children were abnormal, including myelin dysplasia, less white matter, lack of corpus callosum or hypoplasia. The follow-up time ranged from 2 months to 57 months, after the last follow-up, 3 cases were seizure free, 6 children showed partial response and the other 5 patients had no response on multitherapy. Six of 8 patients showed good responses to levetiracetam (LEV) monotherapy or in combination with other antiepileptic drugs (AEDs). Vigabatrin (VGB) was applied to 5 patients with epileptic spasms and 4 of them showed response. All patients showed different degrees of developmental delay while four of them showed autistic features. STXBP1 gene mutations were identified in all cases and there were 15 types of gene variations, including 8 missense mutations, 1 nonsense mutation, 5 frame shift mutations and 1 complex mutation. Five novel mutations were unreported before, including c.1193A>G, c.172delG, c.1769C>T, c.1038_1039delCC, c.348_351dupTGAA.Conclusions:Development delay and epilepsy are the major and independent clinical phenotypes in children with STXBP1 encephalopathy. The variation of STXBP1 gene is mainly de novo. Levetiracetam and vigabatrin may be more effective in epilepsy control than other AEDs.

Objective: To assess the significance of DDAVP use in the diagnosis and treatment of VWD. Methods: An analysis of 15 VWD cases who referred to Hematology Division of First affiliated Hospital of Soochow University and treated with DDAVP from March 2016 to August 2018 was conducted. Efficacy and treatment response of DDAVP were monitored by observations of changes in factor Ⅷ procoagulant (FⅧ∶C) and von Willebrand Factor (VWF) related indicators before and 2 h after DDAVP injection. Results: Of 15 cases with VWD, 7 males and 8 females with a median age of 23 (6-46) years, 7 of 9 type I VWD patients achieved complete response (CR) , 1 type 2A VWD case CR, 5 type 3 VWD ones no response (NR) . The VWF multimer analysis in 5 patients combined with other plasma VWF values were in accordance with the known diagnosis. Conclusions DDAVP was effective in most type 1 patients, and ineffective in some type 2 and almost all type 3 cases. It was helpful for diagnosis and subsequent treatment planning.

Objective To assess the influence on radiation dose and image quality of bronchial artery CT angiography for hemoptysis patients with high heart rate and free respiratory with single-cardiac dynamic volumetric scanning using 320-row CT.Methods During October 2016 and May 2017,totally 151 hemoptysis patients with heart rate ≥ 65 bmp and free-breathing were scanned for bronchial artery imaging with prospective ECG-gating 320-detector row dynamic volume CT.The patients were randomly divided into two groups,group A(81 cases) and group B(70 cases).Default multi-cardiac cycle scanning style was used for group A to generate multi-sector images A 1 which were reconstructed corresponding single-sector images A2.Single-cardiac periodic scanning was used to get single-sector images for group B.The effective doses (E) of two scanning types,the quantitative parameters of image quality [vascular CT value,image noise (SD),signal-to-noise ratio (SNR),contrast-to-noise ratio (CNR)] and subjective scoring of group B and A1,A2 were compared.The detection accuracy of the systemic artery-pulmonary circulation shunts was evaluated by ROC curve against digital subtraction angiography (DSA).The measurement data was analyzed by independent sample t test while the grade data was tested by independent sample nonparametric test.Results The median value of radiation dose in group B was significantly lower than that of group A (1.42 mSv vs.3.06 mSv,Z=-8.724,P＜0.05).There were no statistically significant differences in quantitative parameters and subjective scoring points of image quality between group B and group A2 (P＞ 0.05).The median subjective scoring points of group B was 4,which was better than that of group A1 (Z =-10.584,P＜ 0.05).The differences of SD,SNR,CNR betweengroup B and group A1 were statistically significant(t =-0.983,7.898,7.695,P＜0.05),and group B had higher SD,SNR and CNR.There was no significant difference in the mean CT values of the aorta and pulmonary artery between the two groups (P ＞ 0.05).The detection accuracy of the systemic arterypulmonary circulation shunts was moderately high in group B and group A2.The area under the ROC curve (AUC) was 0.891 and 0.864,respectively (Z=7.210,7.430,P＜0.05).The accuracy of group A1 was poor.The area under the ROC curve was 0.626 (Z=2.434,P＜0.05).The sensitivity of group B and groupA2 were 80％ and 76.2％,respectively (P＜0.05),and 28.6％ of group A1 (P＜0.05).Conclusions The 320-row single-cardiac periodic dynamic volume CT can effectively improve the image quality and the detection accuracy of the systemic-pulmonary circulation on CT,and reduce the radiation dose of the bronchial artery CT angiography.

Inherited retinal diseases (IRDs), including retinitis pigmentosa, Usher syndrome, Cone-Rod degenerations, inherited macular dystrophy, Leber's congenital amaurosis, Leber's hereditary optic neuropathy are the most common and severe types of hereditary ocular diseases. So far more than 200 pathogenic genes have been identified. With the growing knowledge of the genetics and mechanisms of IRDs, a number of gene therapeutic strategies have been developed in the laboratory or even entered clinical trials. Here the progress of IRD research on the pathogenic genes and therapeutic strategies, particularly gene therapy, are reviewed.
Biomedical Research ; methods ; trends ; Clinical Trials as Topic ; Genetic Predisposition to Disease ; genetics ; Genetic Therapy ; methods ; trends ; Humans ; Mutation ; Retinal Diseases ; genetics ; therapy ; Treatment Outcome

Objective:To investigate the effect of fresh food homogenate instead of traditional liquid and semiliquid diet on the condition of nutrition and aspiration in the early stage of pulling out the na-sogastric tube in patients with moderate dysphagia.Methods:Forty patients with tube feeding were randomly divided into observation group and control group.Each group had 20 cases.After extubation,the observation group ate fresh food homogenate,and the control group were feeding liquid and semi liquid diet.The actual calories intake,protein,carbohydrate,lipid and dietary fiber were recorded on the first day and the fifteenth day of intervention.The values of serum albumin,prealbumin,hemoglobin and total lymphocyte count were measured.The rate of aspiration and constipation was observed continuously during the study.Results:After 2 weeks of intervention,the daily energy and nutrient intake,nutritional biochemical indexes of observation group were higher than those of control group (P ＜ 0.05),and the incidence of aspiration and constipation was decreased in observation group (P ＜ 0.05).Conclusion:Compared with the conventional liquid and semi liquid diet,fresh food homogenate can increase the intake of daily calorie and nutrition in patients with moderate dysphagia in the early stage after the feeding tube was pulled out,improve nutritional status,reduce the aspiration and constipation,and be well tolerated.

Objective: To explore the normal range of plasma VWF levels of healthy Chinese and to analyze the influencing factors to VWF level. Methods: To detect the levels of von Willebrand factor antigen (VWF∶Ag) , von Willebrand factor ristocetin cofactor activity (VWF∶Rco) , von Willebrand factor collagen binding activity (VWF∶CB) , and the factor Ⅷ coagulation activity (FⅧ∶C) by using fully automatic and standardized testing instruments and matching reagent in 70 healthy Chinese. The effects of age, ABO blood type, gender and region were also analyzed. Meanwhile, 8 standard plasma samples (2 normal subjects, 6 cases of type 2 VWD) confirmed by NIBSC were tested for VWF values. Results: ① In 70 cases of healthy Chinese, the mean value of plasma VWF∶Ag, VWF∶Rco and VWF∶CB were (95.4±44.9) %, (105.9±35.4) % and (89.8±28.4) %, respectively; the ratio of VWF∶Rco/VWF∶Ag and VWF∶CB/VWF∶Ag was 1.18±0.25 and 1.03±0.29, respectively. ②There was no statistical significance in plasma VWF values between the age ≥30 years and <30 years group (P>0.05) . ③The VWF∶Rco, VWF∶CB of type O blood group were lower than that of non-O group (t=2.074, P=0.042; t=3.949, P=0.001) , but there was no statistical significance in VWF∶Ag, VWF∶Rco/VWF∶Ag, VWF∶CB/VWF∶Ag between the two groups (P>0.05) . ④There was no significant difference in VWF values between male and female groups (P>0.05) . ⑤The VWF∶Ag, VWF∶CB of the northern population (North area of Huaihe River) group were higher than that of southern population (Suzhou area) group (t=4.525, P=0.001; t=3.214, P=0.002) , but VWF∶Rco/VWF∶Ag, VWF∶CB/VWF∶Ag were lower than that of southern population group (t=6.373, P=0.001; t=2.902, P=0.005) , and there was no significant difference in VWF∶Rco between the two groups (t=1.598, P=0.115) . ⑥The VWF values of 8 standard plasma samples were in accordance with the known diagnosis. Conclusions A more integrate plasma VWF levels of healthy Chinese people were obtained for the first time by using fully automatic and standardized testing instruments. It was also found that ABO blood group and region had a significant impact on the level of VWF, while the age and gender had no significant effect.