Objective: To reveal the molecular biological mechanism of a rare Dc-variant individual using PacBio third-generation sequencing technology. Methods: ABO and Rh blood type identification, DAT, unexpected antibody screening and D antigen enhancement test were conducted by serological testing. The absorption-elution test was used to detect the e antigen. RHCE gene typing was performed by PCR-SSP, and the 1-10 exons of RHCE were sequenced by Sanger sequencing. The full-length sequences of RHCE, RHD and RHAG were detected by PacBio third-generation sequencing technology. Results: Serological findings: Blood type O, Dc-phenotype, DAT negative, unexpected antibody screening negative; enhanced D antigen expression; no detection of e antigen in the absorption-elution test. PCR-SSP genotyping indicated the presence of only the RHCE c allele. Sanger sequencing results: Exons 5-9 of RHCE were deleted, exon 1 had a heterozygous mutation at c. 48G/C, and exon 2 had five heterozygous mutations at c. 150C/T, c. 178C/A, c. 201A/G, c. 203A/G and c. 307C/T. Third-generation sequencing results: RHCE genotype was RHCE 02N. 08/RHCE-D(5-9)-CE; RHD genotype was RHD 01/RHD 01; RHAG genotype was RHAG 01/RHAG 01 (c. 808G>A and c. 861G>A). Conclusion: This Dc-individual carries the allele RHCE 02N. 08 and the novel allele RHCE-D(5-9)-CE. The findings of this study provide data support and a theoretical basis for elucidating the molecular mechanisms underlying RhCE deficiency phenotypes.

[Abstract] [Objective] To evaluate the immunogenicity of red blood cell blood group antigens in the population of Xi'an. [Methods] Data on blood group antigens of voluntary blood donors from the Shaanxi Province Blood Center and unexpected antibody detection results from clinically submitted cases between January 2019 and May 2024 were analyzed. The Giblett blood group antigen immunogenicity calculation formula was used to calculate the immunogenicity of blood group antigens based on the frequency of unexpected antibodies and the probability of antigen-negative patients receiving antigen-positive red blood cells. The relative immunogenicity of each blood group antigen was obtained by multiplying the immunogenicity of the K antigen (0.095). [Results] A total of 30 921 individuals were included for red blood cell blood group antigen analysis, with 511 cases of unexpected antibody identification. The ranking of red blood cell blood group antigen immunogenicity for the overall population was: Wr^a>E>Di^b>Fy^a>K>C>e>c>Di^a>Jk^a>M>Le^a>Jk^b>Le^b>Fy^b>S, while for males, it was: Di^b>Wr^a>E>K>Fy^a>C>e>c>M>Di^a>Jk^a>Fy^b>Le^a>Le^b>Jk^b>S. [Conclusion] Based on the immunogenicity ranking from strong to weak of red blood cell antigens in the population of Xi'an, this study provides theoretical support for the expansion and matching of antigens, and technical support for achieving precise red blood cell transfusions to improve transfusion efficacy and safety.

OBJECTIVE To analyze the pharmaceutical service process in a fracture patient complicated by fat embolism syndrome （FES） following postoperative fracture， aiming to provide a reference for clinical treatment and pharmaceutical service for similar patients. METHODS Clinical pharmacist participated in the entire treatment process of a patient with FES following postoperative fracture. Based on the patient’s clinical manifestations and test results， literature was reviewed to assist clinical physicians in formulating the therapeutic regimen of glucocorticoids. For the drug-related adverse reactions of renal function impairment and reduced platelet count that occurred during the treatment， suspicious drugs were analyzed and disposed of accordingly. RESULTS The clinical pharmacist recommended Hydrocortisone sodium succinate for injection （100 mg， q8 h， ivgtt， for about one week followed by a gradual dose reduction） for treating FES. The Vancomycin hydrochloride for injection used in this case was assessed as “very probably” associated with the adverse drug reactions of renal function impairment and thrombocytopenia. The clinical physician adopted the pharmacist’s medication recommendations， and the patient’s condition stabilized after treatment， with improvement in adverse reactions， and was discharged from the hospital. CONCLUSIONS The use of glucocorticoids in treating FES has a definite therapeutic efficacy. Clinical pharmacists should individualize the medication plan based on the patient’s pathological state and distinguish it from postoperative sepsis. Meanwhile， drug-induced adverse reactions in the kidney and blood system should be closely monitored.

Objective:To investigate the mediating effect of spiritual health between emotional intelligence and humanistic care ability of nursing undergraduates, and to provide reference for cultivating humanistic care ability of nursing undergraduates.Methods:From May to July, 2023, the nursing undergraduates from Hunan University of Traditional Chinese Medicine, Hunan Normal University, Xi'an Medical College were selected as the research objects by convenient sampling method, and they were investigated by general information questionnaire, spiritual health scale, emotional intelligence scale and humanistic care ability scale.Using AMOS 29.0 to construct a structural equation model, this paper explored the mediating effect of spiritual health between emotional intelligence and humanistic care ability of nursing undergraduates.Results:Finally, 1 126 valid questionnaires were collected. Among 1 126 nursing undergraduates, there were 229 males and 897 females. The total scores of spiritual health, emotional intelligence and humanistic care ability of nursing undergraduates were (90.60 ± 11.02), (126.01 ± 11.90), (174.27 ± 15.16) points, respectively. The humanistic care ability of nursing undergraduates was positively correlated with spiritual health and emotional intelligence ( r=0.441, 0.417; both P<0.01), emotional intelligence and spiritual health were positively correlated ( r=0.397, P<0.01). Spiritual health had some mediating effects between emotional intelligence and humanistic care ability, and the amount of mediating effects was 32.24%. Conclusions:The humanistic care ability of nursing undergraduates is at a medium level, and emotional intelligence can influence humanistic care ability through spiritual health. Therefore, it is suggested that nursing educators should add courses and practical activities related to spiritual health in the training plan of nursing students to promote their emotional intelligence and humanistic care ability.

Objective Visual electrophysiology and optical correlation tomography angiography(OCTA)were used to investigate differences in preoperative retinal function in patients with type 2 diabetic cataract(DC)without obvious retinopathy(NDR)and to determine the clinical application of whole-process blood glucose man-agement(WBGM)for improving postoperative vision in DC patients.Methods This study investigated the preop-erative and postoperative visual electrophysiology(N75,P100,photopic FERG,and scotopic FERG),peripapil-lary retinal nerve fiber layer(pRNFL)and peripapillary capillary vessel density(ppVD)data,as well as trends in these data changes during blood glucose management intervention.Results As the course of T2DM progressed,FBG and HbA1c increased,the N75 and P100 lategraduancy periods of patients gradually lengthened,and the photopic FERG,scotopic FERG,pRNFL,and ppVD values decreased at each postoperative time point.At the same time,the best corrected visual acuity(BCVA)of patients after surgery gradually decreased(P<0.05).Compared with that at 1 week after surgery,the BCVA of Group A(without whole-process blood glucose manage-ment)gradually increased at 1 month and 3 months after surgery but showed a downward trend at 1 year after sur-gery.The BCVA of Group B(with whole-process blood glucose management)gradually stabilized at 1 month after surgery,and at all time points after surgery,the BCVA of Group B was better than that of Group A.The results showed that N75 and P100 in Group A were greater than those in Group B,while the photopic and scotopic FERG,pRNFL,and ppVD(%)in Group A were lower than those in Group B.In addition,N75 and P100 in Group A showed a gradual prolongation trend at various time points after surgery,while photopic FERG,scotopic FERG,pRNFL,and ppVD(%)showed a gradually decreasing trend.However,the above data in Group B gradu-ally stabilized at 3 months after DC surgery,approaching the preoperative level of the group(P<0.05).In the state of whole blood glucose management,although N75 and P100 both reached their longest durations at 1 week af-ter surgery,N75,P100,photopic FERG,scotopic FERG,and pRNFL showed a gradually decreasing trend at 1 month and 3 months after surgery,while ppVD(%)gradually increased(P<0.05).At various time points from 3 months to 1 year after surgery,the overall trend of the above indicators remained stable and close to the preoperative values(P>0.05).Conclusion According to the results of the quantitative analysis of visual electrophysiology and OCTA,in DC patients without obvious retinopathy and with the worsening of diabetes,retinal function decreased,but whole-process blood glucose management effectively restored retinal function and improved visual quality after surgery.

AIM:To evaluate the effectiveness of heparin-binding protein(HBP)in combination with organ function indicators for early diagnosis and prognosis prediction in patients with severe trauma complicated with sepsis.METHODS:A retrospective analysis was conducted on 184 patients with multiple injuries who were admitted to the Emergency Medicine Department of the Second Affiliated Hospital of Zhejiang University Medical College between January 2019 and September 2020 and underwent HBP testing.Patients were classified according to the SEPSIS 3.0 diagnostic cri-teria into a sepsis group(n=89)and a non-sepsis group(n=95).Clinical outcomes were tracked,dividing patients into a deceased group(n=43)and a survival group(n=141).HBP levels were continuously measured,and the peak values of the two groups were compared to assess the efficacy of diagnosing sepsis.Further analysis on the correlation of HBP peak value median with clinical prognosis was conducted.The effectiveness of HBP alone and in combination with total biliru-bin(TBil)and white blood cell(WBC)count in prognosis assessment was evaluated.RESULTS:(1)No significant dif-ference was found in the peak level of HBP between the sepsis group(n=89)and the non-sepsis group(n=95)(71.7±68.6 vs 52.5±56.1,P=0.051).(2)Among the 184 patients,the peak level of HBP was positively correlated with WBC count(r=0.244,P<0.01)and TBil levels(r=0.241,P<0.01).(3)The area under curve(AUC)for independent diag-nosis of sepsis using TBil levels,WBC count,and PCT levels were 0.618,0.631,and 0.718,respectively,and the com-bined AUC was 0.684,with a diagnostic sensitivity of 60.7%and specificity of 71.6%(P<0.05).(4)Prognostic analy-sis of mortality showed that patients in the high HBP level group had a significantly higher mortality rate than those in the low-level group(30.4%vs 16.3%,P<0.05).The WBC count was also significantly higher in the deceased group than in the survival group(17.5±6.9 vs 12.8±4.7,P<0.01),especially in those with sepsis(P<0.01).The AUCs for predict-ing sepsis mortality prognosis using HBP peak level,TBil levels,WBC count,SOFA score,and APACHE-II score were 0.618,0.603,0.719,0.823,and 0.811,respectively.The combined AUC of HBP with TBil and WBC for assessing sepsis prognosis was 0.750,with a sensitivity of 74.4%and specificity of 74.5%,showing statistically significant differ-ences(P<0.05).(5)The combined assessment of these three indicators showed no statistically significant difference from artificial scoring systems in predicting sepsis prognosis(P>0.05).CONCLUSION:The combination of HBP,TBil,and WBC is highly effective in predicting the risk of sepsis in patients with multiple injuries and has significant clinical value in predicting the mortality risk of trauma patients with sepsis.

Objective Through the investigation of Tongxuan Lifei prescription and Tongxuan Lifei prescription to reduce Ephedrae Herba on the respiratory system,central system,urinary system,circulatory system and digestive system of model rats with wind-cold superficies symptoms,to explore the effect of the ascending and floating of Ephedrae Herba on the efficacy of Tongxuan Lifei prescription and to provide theoretical basis for clinical prescription.Methods 60 SD rats were randomly divided into normal group(CON),model group(M),paracetamol group(Y,0.455 g·kg-1),Ephedrae Herba group(MH,2.340 g·kg-1),Tongxuan Lifei prescription group(TX,4.326 g·kg-1)and Tongxuan Lifei prescription to reduce Ephedrae Herba group(TX-MH,3.920 g·kg-1),10 rats in each group.Except for the CON group,the rats of the groups were modeled with fan blowing and cold stimulation.The model was successful when the rats appeared in a state of crouching or condensed,decreased spontaneous activity,hunched back,sneezing,and elevated body temperature.After successful modeling,the corresponding drugs(10 mL·kg-1)were given respectively,and the rats in the CON and M group were given the same volume of distilled water for 4 consecutive days.The basic state of the rats was observed,ammonia induced cough,phenol red excretion and levels of inflammatory factors(IgE,IL-4,IFN-γ)in BALF,lung histopathological sections and oxidative stress(MDA,SOD and GSH-Px)levels were determined to investigate the effects of TX and TX-MH on the respiratory system.The effects of TX and TX-MH on the central system were investigated by the open field experiment,the sleep time of rats and the levels of inflammatory factors(IgE,IFN-γ,IL-4)in serum.The effects of TX and TX-MH on digestive system were investigated by gastrointestinal motility and levels of motilin(MTL),somatostatin(SST)and gastrin(GT)in plasma.The effects of TX and TX-MH on the urinary system were investigated by the levels of toe sweat secretion,urine volume,serum creatinine(CRE)and blood urea nitrogen(BUN).The effects on the circulatory system were investigated by the rat cardiac function and the levels of serum NO.Results TX could increase the body weight and decrease the body temperature of rats with wind-cold superficies symptoms;TX could stimulate the central system,improve the respiratory system,enhance the urinary-sweat system,and has no obvious effect on the circulatory system and digestive system.The effects of TX-MH on the respiratory system and the central system is obviously weakened,and the circulatory system and the digestive system are basically not affected.In general,the effect of TX is better than that of TX-MH,which indicates that the removal of Ephedrae Herba,the ascending and floating medicine,weakens the effect of TX on"promoting cold"and"xuanfei relieving cough".Conclusion The Ephedrae Herba's ascending and floating medicinal properties play an important role in the efficacy of Tongxuan Lifei prescription's"promoting cold"and"xuanfei relieving cough".

Objective To explore the impact of artificial intelligence(AI)-assisted computing systems on the success rate of surgery,stereoscopic vision,and quality of life in patients with intermittent exotropia.Methods A total of 108 children(216 eyes)with intermittent exotropia who visited Ziyang Hospital of West China Hospital,Sichuan University from March 2021 to April 2023 were collected and randomly divided into Group A and Group B,with 54 children(108 eyes)in each group.Group A used the traditional calculation method,while Group B used the AI-assisted calculation method to determine the surgical volume of strabismus in children by the angles of strabismus at 6m and 33 cm.The success rate of surgery,postoperative angle of strabismus,stereoscopic visual function,horizontal and vertical perceptual eye positions,and quality of life[Child Intermittent Exotropia Questionnaire(CIXTQ)score]were compared between the two groups at 1 day,1 month,3 months and 6 months after surgery.Results At 1 day,1 month,3 months and 6 months after surgery,the success rate of surgery in Group B was significantly higher than that in Group A(all P＜0.05).Compared with the val-ues at 1 day after surgery,the angles of strabismus at 6 m and 33 cm in the two groups were significantly reduced at 1 month,3 months and 6 months after surgery(all P＜0.05);Group B had significantly lower angles of strabismus at 6 m and 33 cm than Group A at 1 day,1 month,3 months and 6 months after surgery(all P＜0.05).At 1 month,3 months and 6 months after surgery,the central and far stereoscopic visions of children in the two groups gradually increased,with the increase rate in Group B being significantly higher than that in Group A(Finter-group=76.59,P＜0.05);the proportion of children without stereoscopic vision in both groups gradually decreased,with a decrease rate in Group B being significantly higher than that in Group A(Finter-group=137.74,P＜0.05).At 1 month,3 months and 6 months after surgery,the horizon-tal and vertical perceptual eye positions in Group B showed a significant descend range compared with those in Group A(all P＜0.05).At 1 day,1 month,3 months and 6 months after surgery,the exotropia displacement of children in both groups gradually increased,and the displacement of children in Group B was significantly smaller than that in Group A at 1 month,3 months and 6 months postoperatively(all P＜0.05).At 1 month,3 months and 6 months after surgery,the CIX-TQ scores of children in the two groups increased gradually,with CIXTQ scores in Group B being significantly higher than those of Group A(all P＜0.05).Conclusion AI-assisted computing systems can effectively improve the success rate of intermittent exotropia surgery,enhance the establishment of stereoscopic visual function,improve visual quality,and sig-nificantly improve the quality of life of children.

Objective To investigate the protective effect of Guanxinning(GXN)tablet on dilated cardiomyopathy(DCM),and to explore its effect and mechanism in pyroptosis of cardiomyocytes via the NLRP3/ASC/Caspase-1 pathway.Methods Rats were divided into GXN low-dose,GXN high-dose,digoxin,model control,and normal control groups.The DCM model was induced by multiple intraperitoneal injections of 17.5 mg/kg doxorubicin(DOX).The drug was administered at the same time as the model was established for 10 weeks.After the last administration,echocardiography was used to assess cardiac function indexes.After sacrificing the rats,serum was collected to measure IL-1β and IL-18 levels.RT-PCR was used to detect mRNA expression of NLRP3,ASC,Caspase-1,NF-κB,TXNIP,IL-1β,and IL-18.Immunohistochemistry and immunofluorescence staining and Western Blot were used to assess NLRP3,ASC,Caspase-1,IL-1β,and IL-18,GSDMD and GSDMD-NT protein,and TUNEL staining result.Changes in the microstructure of cardiomyocytes were observed by transmission electron microscopy.Results Compared with the normal control group,IVSs,IVSd,LVPWs,FS,SV,EF,and HR of the model control group were significantly reduced,LVIDs,ESV,and serum IL-1β and IL-18 were significantly increased,NLRP3,ASC,Caspase-1,NF-κB,TXNIP,IL-1β and IL-18 mRNA expression was significantly increased,and NLRP3,ASC,Caspase-1,IL-1β,IL-18 and GSDMD-NT protein expression and the TUNEL staining area were increased significantly,and the microstructure of cardiomyocytes changed significantly.Compared with the model control group,GXN significantly increased IVSs,SV,FS,EF,and HR,significantly reduced LVIDs,ESV,and the serum levels of IL-1β and IL-18,and reduced NLRP3,ASC,Caspase-1,NF-κB,TXNIP,IL-1β,and IL-18 mRNA expression,NLRP3,ASC,Caspase-1,IL-1β,IL-18 and GSDMD-NT protein expression,and the TUNEL staining area.Additionally,the microstructure was improved significantly.Conclusions GXN alleviates cardiomyocyte pyroptosis in rats with DCM by inhibiting the NLRP3/ASC/Caspase-1 pathway.

OBJECTIVE: To explore the genetic characteristics of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS). METHODS: A child with FSGSNEDS who had visited Shengli Oilfield Central Hospital on September 15, 2019 was selected as the study subject. Clinical data of the child was collected, and trio-whole exome sequencing (trio-WES), Sanger sequencing, chromosomal karyotyping analysis, and copy number variation sequencing (CNV-seq) were used to analyze the child and his parents. RESULTS: The child, a 3-year-old boy, had manifested developmental delay, nephrotic syndrome, and epilepsy. Trio-WES and Sanger sequencing showed that he has carried a heterozygous c.1375C＞T (p.Q459*) variant of the TRIM8 gene, for which both his parents were of the wild type. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. No abnormality was found in the chromosomal karyotyping and CNV-seq results of the child and his parents. CONCLUSION The child was diagnosed with FSGSNEDS, for which the c.1375C＞T variant of the TRIM8 gene may be accountable.
Male ; Humans ; Child ; Child, Preschool ; DNA Copy Number Variations ; Glomerulosclerosis, Focal Segmental/genetics* ; Genomics ; Heterozygote ; Karyotyping ; Carrier Proteins ; Nerve Tissue Proteins