Objective:To investigate the application effect of medical failure modes and effects analysis(FMEA)in reducing the inci-dence rate of catheter dislodgement in patients in the post-anesthesia care unit(PACU).Methods:A retrospective study was con-ducted among 469 PACU patients in our hospital from January 2023 to June 2024.According to the application time of FMEA,the pa-tients were divided into routine group(234 PACU patients who did not receive FMEA from January to June 2023)and FMEA group(235 PACU patients who received FMEA from July 2023 to June 2024).The two groups were compared in terms of the incidence rate of catheter dislodgement,risk priority number(RPN)coefficients(including professional knowledge,risk awareness,and intervention guidance),the quality of recovery of consciousness(including the time to complete recovery of consciousness and the length of stay in the PACU),and the degree of satisfaction with nursing(including risk management,nursing services,and nursing techniques).Results:The FMEA group had a significantly lower incidence rate of catheter dislodgement than the routine group[0.43%(1/235)vs.2.99%(7/234),the difference was statistically significant(χ2=4.604,P=0.032)].Compared with the routine group,the FMEA group had significantly lower RPN coefficients of risk awareness t=52.518,professional knowledge t=49.641,and intervention guidancet=61.592(P<0.001).Compared with the routine group,the FMEA group had significantly shorter time to complete recovery t=18.087 of consciousness and length of stay in the PACUt=15.710(P<0.001).The FMEA group had a significantly higher degree of satisfaction with nursing than the routine group in terms of risk management t=19.794,nursing services t=10.825,and nursing techniques t=14.555(P<0.001).Conclusion:The application of FMEA manage-ment in PACU patients can reduce the incidence rates of catheter dislodgement and risk events and improve the quality of recovery of consciousness and the degree of satisfaction with nursing,and there-fore,it has important clinical significance.

Through the exploration of the Xuanfu theory,this article analyzes and summarizes the pathogenesis and treatment of depression,and explores the application of wind medicine in the treatment of depression in traditional Chinese medicine.On the basis of sorting out the connotation of Xuanfu theory and the historical changes of the wind medicine,it is concluded that the main pathogenesis of depression is Xuanfu opening and closing block,obstruction of qi,blood and body fluid,and dysfunction of mental machinery.The basic therapeutic method is to open the Xuanfu to treat depression,and the syndrome differentiation is assisted by regulating qi,resolving turbidity,promoting blood circulation and tonifying deficiency.The efficacy of the wind medicine and the effect of drug components were summarized,and the application of the wind medicine in the treatment of depression was discussed.The efficacy of the wind medicine and the effect of drug components were summarized,and the medication regularity of the wind medicine in the treatment of depression was discussed.Through the Xuanfu theory to understand depression again,and to recognize the wind medicine in the treatment of depression has a unique role,but also can help other drugs,significantly enhance its effect in the treatment of depression.

Zinc transporter 8 (ZnT8) is an important candidate antigen for type Ⅰ diabetes. The autoantibody detection kit based on ZnT8 can be used to help diagnose type Ⅰ diabetes, and the related products have been launched in Europe and the United States. Since the recombinant production system of active ZnT8 has not been established in China, this key raw material is heavily dependent on imports. We used Saccharomyces cerevisiae to carry out the recombinant expression of ZnT8. First, multiple antigenic forms of ZnT8 were designed as C-terminal haploid (C), C-terminal diploid (C-C), and N-terminal and C-terminal concatemers (N-C). The proteins were expressed, purified and tested for antigenicity by bridging-type ELISA. The serum of 13 patients with type Ⅰ diabetes and the serum of 16 healthy volunteers were detected. C, N-C, and C-C proteins had similar detection rates, which were 53.8% (7/13), 61.5% (8/13) and 53.8% (7/13). The specificity of the three groups was 100% (16/16). The detection value on positive samples P3, P4, and P8 increased by more than 90%, indicating better serum antibody recognition ability. Finally, N-C protein was selected for further serum sample testing, and the test results were characterized by receiver operating characteristic (ROC) curve for sensitivity and specificity. Compared with imported gold standard antigen, the sensitivity was 76.9% (10/13) and the specificity was 87.5% (14/16). There was no significant difference in the sensitivity of the method, but the specificity needed to be improved. In conclusion, the ZnT8 N-terminal and C-terminal concatemer protein developed based on S. cerevisiae expression system is expected to be a key alternative raw material in the development of in vitro diagnostic reagents for type Ⅰ diabetes.
Antigens ; Autoantibodies ; Diabetes Mellitus, Type 1/diagnosis* ; Enzyme-Linked Immunosorbent Assay ; Humans ; Saccharomyces cerevisiae/genetics* ; Zinc Transporter 8/genetics*

Objective:To identify the clinical characteristics and pathogenic gene of a Chinese Han family with achromatopsia (ACHM).Methods:The method of pedigree investigation was adopted.A Chinese Han ACHM family was recruited in Peking Union Medical College Hospital form July 2010 to July 2019, including 5 members of 2 generations.There were 2 patients and 3 phenotypically normal individuals.The medical history was collected and comprehensive ophthalmic examinations were performed, including visual acuity, colour vision, color fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), visual field and electroretinogram (ERG).Genomic DNA was extracted from peripheral blood sample from the patients and family members.Pathogenic variant was screened by whole exome sequencing (WES) and verified by Sanger sequencing and co-segregation analysis.The variant was annotated with the 1000 Genomes, Human Gene Mutation Database (HGMD), ExAC, ClinVar and OMIM databases to detect the single nucleotide polymorphism and whether it had been reported previously.The pathogenicity of the variant was evaluated according to the standards and guidelines of the American College of Medical Genetics and Genomics (ACMG).This study adhered to the Declaration of Helsinki.The study protocol was approved by the Institutional Review Board of Peking Union Medical College Hospital (No.JS-2059).Written informed consent was obtained from the guardians of juvenile patients.Results:There was consanguinity between the proband's parents and this family was consistent with autosomal recessive inheritance.Both male patients presented the reduction of visual acuity accompanied with photophobia and color blindness since childhood.Barely visible foveal light reflex in fundus images, hypofluorescence of foveal areas in FAF images, foveal defect with disruption of ellipsoid zone and interdigitation zone in OCT images were found in both patients.Central scotoma with or without peripheral visual field defects was detected.Generally normal scotopic 0.01, 3.0 and 10.0 responses, decreased oscillatory potentials amplitudes, no photopic 3.0 and 30 Hz flicker responses were observed.No sign of progression was found during the 9-year follow-up.It was confirmed that both patients carried a novel homozygous disease-causing variant c. 947insA (p.Asn316Lysfs*46) in ATF6 gene.Their mother had the heterozygous variant.The unaffected brother did not carry the variant.This family was consistent with co-segregation.This variant was labeled as pathogenic according to the ACMG standards and guidelines. Conclusions:A novel variant c.947insA (p.Asn316Lysfs*46) in ATF6 gene is the pathogenic variant of this achromatopsia family.This is the first time that this variant has been reported.

OBJECTIVE：To provide reference for the development and application of pharmacy popular-science video courseware. METHODS ：Combined with the problems existing in the medication of patients with chronic diseases at the present stage and the key points of medication management ，the theme ，content and form of this popular-science were determined ；the video shooting and production were completed ，and publicity and promotion were carried out. Questionnaire survey was conducted ， and the reception of pharmacy outpatient service in our hospital was counted ；the broadcasting effects of popular-science video were analyzed. RESULTS ：The theme of popular-science video courseware was determined to be self-medication management of patients with chronic diseases at home assisted by pharmacists. Combined with the “five moments ”of medication safety proposed by WHO ， the content included six units as knowing pharmacists ，understanding drugs ，taking drugs ，adding drugs ，checking drugs ，and discontinuing drugs. PPT video was used to explain the contents of each unit ，with an average duration of about 25 min. After the first unit was launched ，a total of 39 327 hits were received within two months. A total of 100 questionnaires were sent out ，97 questionnaires were collected （recovery rate of 97.0％）. Among them ，80（82.5％）thought it helpful to watch the video. Within two months after the broadcast of unit 1 video，the reception volume of pharmacy outpatient department of our hospital （1 160 person times ）increased by 104.2％ compared with the two months in the same period last year （568 person times ），and increased by 18.7％ compared with the two months before the broadcast （977 person times ）；99 patients came to the pharmacy outpatient department to consult because of watching the video ，and 55.6％ of the registered patients consulted the demonstration of video courseware and repeatedly mentioned related problems. CONCLUSIONS ：It is a beneficial exploration for pharmacists to develop popular-science video courseware with the theme of safe and rational drug use. It is the direction for future work to increase the scope of disease types ，target different groups of people or focus on different types of drugs and promot them in various forms.

Objective:To access the genetic defects and clinical characteristics of patients with KCNV2-associated cone dystrophy. Methods:Three pedigrees with KCNV2-associated cone dystrophy were recruited in Peking Union Medical College Hospital from August 2017 to December 2019.Peripheral blood from each patient and their parents was collected, and genomic DNA was extracted.Targeted exome capture plus next-generation sequencing (NGS) was used to detect the candidate variants.Suspected causative variants were validated by Sanger sequencing and segregation analysis.Comprehensive ocular examinations were performed, including vision acuity, colour vision, fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), visual field and electroretinogram (ERG). This study was approved by the Institutional Review Board of Peking Union Medical College Hospital and adhered to the tenets of the Declaration of Helsinki.Written informed consent was obtained from each patient prior to any medical examination. Results:Three probands from three unrelated Chinese families were confirmed carrying biallelic KCNV2 disease-causing variants.Two patients harbored compound heterozygous variants and one patient with history of consanguinity was identified carrying homozygous variant.Five novel variants in the KCNV2 gene were identified, including p. T121M, p.R244C, p.C199Y, p.M250R and p. L171Pfs*201.All patients enrolled in this study were male with age of 25, 16 and 2 years old, respectively.Three affected individuals complained of vision loss and photophobia and two patients demonstrated reduced color perception and nystagmus.Macular discoloration (bull's eye maculopathy or gold foil macular reflex) was observed in fundus photographs.Macular hypofluorescence was illustrated in FAF imaging, which accompanying a broad hyperfluorescent ring surrounding the central atrophy or not.Macular thinning with loss of the inner segment ellipsoid zone was noted in OCT images, and the disruption was more profound in older patients.Central scotoma with or without peripheral visual field defects was observed in perimetry.Severe cone function loss and variable scotopic rod impairment were demonstrated in ERG, whereas a broad a-wave trough response to scotopic bright flash stimulation was noted. Conclusions:Patients with KCNV2-associated cone dystrophy show a characteristic ERG manifestation.ERG results and KCNV2 variants in Chinese patients differ from those in foreigners.

Objective To evaluate the efficacy of 0.3％ sodium hyaluronate ophthalmic solution in mild-to-moderate dry eye patients.Metbods A prospective,multicenter,and self-controlled clinical trial was performed on 200 patients who were diagnosed as mild-to-moderate dry eye from January 2015 to June 2017 in Eye Institute of Xiamen University,Eye & ENT Hospital of Fudan University,Zhongshan Ophthalmic Center,Xiangya Hospital Central South University,Eye Hospital of Wenzhou Medical University,and Beijing Tongren Hospital,Capital Medical University.The study protocol was approved by the Ethics Committees of Eye Institute of Xiamen University,written informed consent was obtained from each patient prior to any medical examination.All patients were treated with 0.3％ sodium hyaluronate ophthalmic solution 6 times per day (one drop each time) for 28 days.Corneal fluorescein sodium staining,tear film break-up time (BUT),Schirmer Ⅰ test (S Ⅰ t),degree of conjunctival hyperemia,eyelid margin,meibomian gland secretion,secretory capacity of meibomian gland and subjective symptoms were assessed at baseline,on the 14th day and 28th day after treatment.Bulbar impression cytology was evaluated at baseline and on the 28th day after treatment.Irritation of 0.3％ sodium hyaluronate ophthalmic solution was estimated on the 14th day and 28th day after treatment.Results The total score of subjective symptoms,BUT,S Ⅰ t,degree of conjunctival hyperemia were significantly different among different treatment time points (F =108.969,27.598,16.838,36.750;all at P＜0.01).Compared with before treatment,the total score of subjective symptoms was significantly decreased,the degree of conjunctival hyperemia and the total corneal fluorescein sodium staining point number were significant decreased on the 14th day and 28th day after treatment.The total score of subjective symptoms,degree of conjunctival hyperemia and total corneal fluorescein sodium staining point number on the 28th day after treatment were significant lower than those on the 14th day after treatment.Compared with before treatment,the BUT was significantly longer and the S Ⅰ t scores were significantly increased on the 14th day and 28th day after treatment.The BUT on the 28th day after treatment was significantly longer than that on the 14th day after treatment;no significant difference in S Ⅰ t was observed between the 28th day and the 14th day after treatment.The scores of palpebral margin change,meibomian gland secretory ability and secretion characteristics were not significantly different among different treatment time points(H=0.255,2.356,0.294;all at P＞0.05).The impression cytology grade on the 28th day after treatment was 1.08±0.74,which was significantly lower than 1.53±0.76 before treatment (t =5.979,P＜0.01).The number of goblet cells on the 28th day after treatment was significantly higher than that before treatment (U =1 806.500,P＜ 0.01).On the 14th day after treatment,70％ of the patients indicated that the drug was non-irritating,and no patient had intolerable irritation affecting daily lives.All patients had good tolerance to this drug.Conclusions The use of 0.3％ sodium hyaluronate eye drops can improve the symptoms and signs of mild to moderate dry eye,which can be widely used for mild-to-moderate dry eye patients in clinic.

OBJECTIVE: To investigate the factors that influence the progression-free survival time (PFS) of patients with non-squamous cell carcinoma type non-small cell lung cancer (NSCLC) after first chemotherapy, and to provide reference for the formulation of clinical individual treatment regimen. METHODS: Clinical information of 84 patients with non-squamous cell carcinoma type NSCLC after first chemotherapy were selected from our hospital during Jan. 2012-Dec. 2014. The effects of patient's factors [gender, age, performance status (PS) score], disease factors [tumor staging, tumor marker (TM) level] and treatment factors (chemotherapy regimen and treatment course, chemotherapy efficacy) on PFS were analyzed retrospectively. RESULTS: All patients were followed up for 11. 933 months averagely (final follow-up time of Jun. 30th, 2017), and their median PFS was 4. 017 months. The median PFS of male was slightly shorter than that of female; the median PFS of patients aged more than 65 year-old was slightly shorter than that of patients aged below 65 year-old; the median PFS of patients with PS score of 0-1 was slightly longer than that of patients with PS score of 2-4, without statistical significance (P＞0. 05). The median PFS of Ⅱ -Ⅲ stage patients was significantly longer than that of Ⅳ stage patients; the median PFS of patients with at least one TM index was 10 times higher than the upper limit of the normal value was significantly shorter than that of patients with four TM indexes were all 10 times lower than the upper limit of the normal value; the median PFS of patients underwent 1-3 treatment courses was significantly shorter than that of patients underwent 4-6 treatment courses; the median PFS of patients with progressive disease efficacy was significantly shorter than that of patients with stable disease efficacy or above, with statistical significance (P＜0. 05). Among 84 patients, 81 patients selected PP regimen (pemetrexed disodium+platinum), and other patients chose non-PP regimen. Due to the large difference in the number of cases, the effect of the chemotherapy regimen on the patient' s PFS was not investigated. CONCLUSIONS: The disease factor and treatment factor of patients may be associated with PFS. Tumor staging, at least one TM index was 10 times higher than the upper limit of the normal value, the number of completed chemotherapy treatment course, chemotherapy efficacy are independent influential factors of PFS in patients with non-squamous cell carcinoma type NSCLC.

Objective To provide detailed clinical and molecular genetic findings and describe the characteristics of natural history in Chinese choroideremia (CHM) patients.Methods The patients with CHM who met the inclusion criteria of at least two visits over a minimum period of 5 years were recruited on a voluntary basis at the Ophthalmic Genetics Clinic in Peking Union Medical College Hospital from April 2009 to August 2017.Molecular genetic analysis results,best-corrected visual acuity (BCVA),color fundus photograph,optical coherence tomography (OCT),visual field (VF),full-field electroretinography (fERG) were obtained.This study protocol was approved by the Institutional Review Board of Peking Union Medical College Hospital (S-K125).Written informed consent was obtained from each participant.Results Ten Chinese Han patients from seven CHM families were included.The mutations were confirmed by molecular genetic analysis,and two novel mutations were found.The median age of 10 patients at first visit was 44 years (range 8-52 years).The mean first-last visit period was 6.08 years (range 5.03-7.24 years).The mean BCVA at first visit in logMAR equivalents was 0.56 (range 0.0-2.0) or approximately 0.28 decimal acuity.The correlation between BCVA at first visit and age showed that relative good vision remained until 35 years old and BCVA subsequently reduced rapidly.OCT showed a thickening of the central retinal thickness at early stage,followed by a thinning over decades.Outer retinal tabulation (ORT) was shown in some patients.There was a strong negative correlation (r=-0.861,P＜0.001) between residual VF and age.Five patients did not need to record fERG because of serious fundus lesions.Two patients exhibited decreased amplitudes for both rod and cone-driven responses,and three patients exhibited no fERG amplitudes.Conclusions The progression of CHM may be severer and faster in Chinese patients than that in Western patients.ORT is an important manifestation of OCT in CHM patients.VF and fERG are applicable to evaluate the condition of very-early phase of CHM.

Clustered regulatory interspaced short palindromic repeat (CRISPR)/CRISPR associated nuclease (Cas) system is an adaptive immune system that confers resistance to exogenous virus or plasmid in bacteria and archaea,over the 30 years since its discovery,researchers have a better understanding of its immune processes in vivo and the mechanisms of gene editing by using its function. Researches found that CRISPR/Cas9 system modified from typeⅡCRISPR/Cas may edit genome accurately and effectively. In recent years,with the progress and development of gene sequencing technology,it is more explicit to make genetic diagnosis of a variety of hereditary eye diseases,and with the improvement of specificity for Cas9 in eukaryotic cells,gene editing is showing a great potential in the field of treating hereditary eye diseases. At present,the application of CRISPR/Cas9 gene editing technology has extended to the gene therapy of some hereditary eye diseases, such as congenital cataract, congenital glaucoma, retinitis pigmentosa (RP),congenital corneal dystrophy,Leber congenital amaurosis (LCA) and Usher syndrome. Besides,the combination of CRISPR/Cas9 gene editing technology with adeno-associated virus vectors (AAV) and induced pluripotent stem cells (iPSCs) research offers more possibilities and new approaches for the treatment of hereditary diseases. This article reviewed the mechanism of CRISPR/Cas9 and its applications in gene therapy for hereditary eye diseases.