Objective To construct and evaluate an evaluation index system for the training effect of cardiac surgery specialist nurses and provide a reference for the quality evaluation of cardiac surgery specialist nurse training.Methods Based on the Kirkpatrick Model,the preliminary draft of the evaluation index system for the training effect of cardiac surgery specialist nurses was formed through literature review and semi-structured interviews.The Delphi method was used to conduct the expert consultation with 24 experts nationwide in September 2024,and the weight of each index was determined by the analytic hierarchy process.In February 2025,60 cardiac surgery nurses from 3 tertiary A hospitals in Nanjing were selected as the survey subjects,and a satisfaction questionnaire on the evaluation index system for the training effect of cardiac surgery nurses was used for the survey.Results The effective recovery rates of the 2 rounds of expert questionnaires were 96％and 100％,respectively.The expert authority coefficient was 0.913,and the Kendall harmony coefficient was 0.127-0.212 and 0.152-0.176,respectively(both P＜0.05).The final evaluation index system for the training effect of cardiac surgery specialist nurses included 4 primary indexes,14 secondary indexes and 59 tertiary indicators.The satisfaction questionnaire score of the evaluation index system for the training effect of cardiac surgery nurses was(18.75±2.21).Conclusion The evaluation index system for the training effect of cardiac surgery specialist nurses was scientific and reliable,and can guide significance for the subsequent training,assessment and evaluation of cardiac surgery specialist nurses.

Objective: To analyze the frequency and investigate the causes of unexpected antibodies in D-negative blood donors. Methods: From January 2022 to December 2024, 3 768 D-negative blood donors sent to our laboratory were selected as research subjects. D-negative confirmation test and RhCE phenotype detection were applied by saline tube method and microcolumn gel indirect antiglobulin test (IAT), respectively. Antibody screening and identification were performed using the polybrene method and IAT column agglutination methods. Anti-D, anti-C and anti-G specificities were identified by a two-step adsorption-elution method, and the genotypes of D-negative samples were determined by RHD gene amplification, Sanger sequencing, and PacBio Single Molecule Real-Time (SMRT) sequencing. Results: Among D-negative donors, ccee and Ccee phenotypes accounted for the highest proportion, 55.68% (2 098/3 768) and 29.56% (1 114/3 768), respectively, while CcEE and CCEe phenotypes were the least, with one case detected in each, accounting for 0.03% (1/3 768). A total of 165 cases with D variant phenotype were detected, and the proportion of D variant was 4.38% (165/3 768) in the donors detected by D-negative confirmation test. Antibody screening positive blood donors were identified in 93 cases with a proportion of 2.47% (93/3 768). Antibody specificity was determined in 84 blood donors, and 9 samples showed no clear specificity. Anti-D was detected most frequently (n=68), in which 6 of them were detected having multiple antibodies, anti-D + anti-C (n=2), anti-D + anti-G(n=1), and anti-D + anti-E(n=3). The other antibodies detected were anti-E (n=1), anti-M(n=9), anti-P1 (n=3), anti-Le (n=1), and anti-HI(n=2). Fourteen cases were detected with anti-D in serological D-negative donors with C+ or E+ phenotype, in which three of them were DVI type 3 individuals and 11 cases were D negative individuals. Conclusion: The incidence of unexpected antibodies was higher in D-negative blood donors than in the total donors, with anti-D being the most common. The data provide insights for prevention and monitoring hemolytic disease of the fetus and newborn (HDFN) caused by anti-D. To ensure the safety of blood transfusion, routine unexpected antibody screening for RhD-negative blood donors is recommended to prevent the use of unexpected antibodies positive plasma in the clinic.

Objective:To explore the clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants.Methods:A cases series study retrospectively analyzed the clinical data of 6 children with HUWE1 gene variants. The children were identified from the Third Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Henan University of Chinese Medicine, and Guangzhou Women and Children′s Medical Center of Guangzhou Medical University between April 2021 and July 2023.The data included sex, age, dysmorphic features, intellectual and motor development, seizure history, neuroimaging findings, family history, and genetic results was analyzed.Results:A total of 6 children, including 5 boys and 1 girl. The age of onset ranged from 1 day to 3 years. All children presented with varying degrees of intellectual disability, with or without motor developmental delay. Dysmorphic features were observed in 4 children, including microcephaly in 3 children. Short stature were observed in 3 children. One child was diagnosed with autism spectrum disorders and 1 child had seizures. Two boys had relevant maternal family histories of febrile seizures and mild intellectual disability, respectively. Abnormal neuroimaging findings were presented in 4 children, including cerebral dysplasia (1 child), prominent supratentorial ventricles (1 child), and mild white matter demyelination (2 children). Whole-exome sequencing identified 5 missense variants and 1 in-frame deletion variant. Five variants were novel and previously unreported (c.12290C>T, c.12701T>C, c.9875C>T, c.9641A>T and c.10313_10315del). The variants in 4 boys were maternally inherited, while the remaining 2 children had de novo variants. The child with the in-frame deletion variant (c.10313_10315del) presented with the most severe phenotype, exhibiting symptoms from 1 day of age, absent cognitive development, feeding difficulties, and congenital laryngeal chondrodysplasia. He was lost to follow-up at 3 months of age after treatment was withdrawn. The age at the last follow-up for the remaining 5 children ranged from 2 years and 10 months to 17 years. A boy with seizures died at 2 years and 10 months of age. The remaining 4 children were able to walk independently at the last follow-up, although their developmental progress was slow. Conclusions:HUWE1 gene related X-linked intellectual disability is characterized by varying degrees of developmental delay and intellectual disability, frequently accompanied by microcephaly, short stature, and occasionally by seizures and autism spectrum disorders. Missense variants are more common and the in-frame deletion variant appears to be associated with a particularly severe phenotypic presentation.

Objective To construct and evaluate an evaluation index system for the training effect of cardiac surgery specialist nurses and provide a reference for the quality evaluation of cardiac surgery specialist nurse training.Methods Based on the Kirkpatrick Model,the preliminary draft of the evaluation index system for the training effect of cardiac surgery specialist nurses was formed through literature review and semi-structured interviews.The Delphi method was used to conduct the expert consultation with 24 experts nationwide in September 2024,and the weight of each index was determined by the analytic hierarchy process.In February 2025,60 cardiac surgery nurses from 3 tertiary A hospitals in Nanjing were selected as the survey subjects,and a satisfaction questionnaire on the evaluation index system for the training effect of cardiac surgery nurses was used for the survey.Results The effective recovery rates of the 2 rounds of expert questionnaires were 96％and 100％,respectively.The expert authority coefficient was 0.913,and the Kendall harmony coefficient was 0.127-0.212 and 0.152-0.176,respectively(both P＜0.05).The final evaluation index system for the training effect of cardiac surgery specialist nurses included 4 primary indexes,14 secondary indexes and 59 tertiary indicators.The satisfaction questionnaire score of the evaluation index system for the training effect of cardiac surgery nurses was(18.75±2.21).Conclusion The evaluation index system for the training effect of cardiac surgery specialist nurses was scientific and reliable,and can guide significance for the subsequent training,assessment and evaluation of cardiac surgery specialist nurses.

Objective:To explore the clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants.Methods:A cases series study retrospectively analyzed the clinical data of 6 children with HUWE1 gene variants. The children were identified from the Third Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Henan University of Chinese Medicine, and Guangzhou Women and Children′s Medical Center of Guangzhou Medical University between April 2021 and July 2023.The data included sex, age, dysmorphic features, intellectual and motor development, seizure history, neuroimaging findings, family history, and genetic results was analyzed.Results:A total of 6 children, including 5 boys and 1 girl. The age of onset ranged from 1 day to 3 years. All children presented with varying degrees of intellectual disability, with or without motor developmental delay. Dysmorphic features were observed in 4 children, including microcephaly in 3 children. Short stature were observed in 3 children. One child was diagnosed with autism spectrum disorders and 1 child had seizures. Two boys had relevant maternal family histories of febrile seizures and mild intellectual disability, respectively. Abnormal neuroimaging findings were presented in 4 children, including cerebral dysplasia (1 child), prominent supratentorial ventricles (1 child), and mild white matter demyelination (2 children). Whole-exome sequencing identified 5 missense variants and 1 in-frame deletion variant. Five variants were novel and previously unreported (c.12290C>T, c.12701T>C, c.9875C>T, c.9641A>T and c.10313_10315del). The variants in 4 boys were maternally inherited, while the remaining 2 children had de novo variants. The child with the in-frame deletion variant (c.10313_10315del) presented with the most severe phenotype, exhibiting symptoms from 1 day of age, absent cognitive development, feeding difficulties, and congenital laryngeal chondrodysplasia. He was lost to follow-up at 3 months of age after treatment was withdrawn. The age at the last follow-up for the remaining 5 children ranged from 2 years and 10 months to 17 years. A boy with seizures died at 2 years and 10 months of age. The remaining 4 children were able to walk independently at the last follow-up, although their developmental progress was slow. Conclusions:HUWE1 gene related X-linked intellectual disability is characterized by varying degrees of developmental delay and intellectual disability, frequently accompanied by microcephaly, short stature, and occasionally by seizures and autism spectrum disorders. Missense variants are more common and the in-frame deletion variant appears to be associated with a particularly severe phenotypic presentation.

[Objective] To investigate the functional differences and potential effects of chromatin spatial structure in patients with normal karyotype and complex karyotype multiple myeloma. [Methods] High-throughput chromosome conformational capture (Hi-C) analysis was performed on plasma cells of 1 case with 1q21 complex karyotype and 1 case with normal karyotype multiple myeloma, and the differences in three-dimensional genome structure between the two patients were analyzed, and the transcriptome characteristics of plasma cells were combined to investigate the differential features through gene functional enrichment. [Results] A/B switch occurred in 36% of the chromatin compartments in two cases, and 1 041 genes in patient with complex karyotype had B/A switch. About 3 500 topological association domains (TADs) were identified in each sample, and there was no significant difference. The number of loops identified in complex karyotype sample was 1 069, which was 1/6 of the normal sample, and there were significant differences in the number of three different types of loops, which to some extent reflected the loss of genome stability. Transcriptome analysis showed significant differences in expression profiles between the two patients, and a total of 6 150 differentially expressed genes (3 303 up-regulated genes and 2 847 down-regulated genes) were identified. [Conclusion] Compared with patient with normal karyotype, patient with 1q21 complex karyotype multiple myeloma exhibit significant changes in the spatial structure of plasma cell chromatin at different levels, which leads to changes in gene expression and activation of pathways related to cancer progression.

Objective To compare the safety and efficacy of emergency balloon dilation angioplasty with emergency stent implantation in treating patients with acute anterior tandem occlusion caused by atherosclerosis at the starting segment of the internal carotid artery.Methods A total of 91 patients with stroke caused by acute anterior tandem occlusion,who were admitted to the First Affiliated Hospital of Hainan Medical College and the Third Affiliated Hospital of Guangzhou Medical University of China within 24 hours after disease onset to receive treatment from January 2018 to October 2022,were enrolled in this study.The patients were divided into balloon dilation angioplasty group(balloon dilation group,n=51)and stent implantation group(stenting group,n=40).The basic clinical data were compared between the two groups.The modified thrombolysis in cerebral infarction(mTICI)grade 2b-3 was defined as a good recanalization.The postoperative 90-day modified Rankin scale(mRS)score of 0-2 points was defined as a good clinical prognosis.Results The good recanalization rate and postoperative 90-day good clinical prognosis rate in the stenting group were 70％and 60％respectively,which were higher than 60％and 52％respectively in the balloon dilation group,and the differences between the two groups were not statistically significant(P=0.361 and P=0.391 respectively).The incidences of symptomatic intracranial hemorrhage(sICH),asymptomatic intracranial hemorrhage(aSICH),and mortality in the stenting group were 10％,32.5％,and 22.5％respectively,which in the balloon dilation group were 11.8％,41.2％,and 17.7％respectively,and the differences between the two groups were not statistically significant(P=1.000,P=0.396,and P=0.564 respectively).Conclusion For the treatment of patients with acute anterior tandem occlusion caused by atherosclerosis at the starting segment of the internal carotid artery,both emergency balloon dilation angioplasty or stent implantation are clinically safe and effective.(J Intervent Radiol,2024,33:593-598)

Objective:To serologically and genotypically analyze the pedigree of a case with a new allele c.175_176insGA of B el subtype and preliminarily explore the molecular mechanism of weak expression of glycosyltransferase B. Method:In the descriptive study,a 23-year-old male voluntary blood donor and his family members were selected for the study. The ABO and Le blood types of the proband and his family members was identified by the test tube method. The agglutination inhibition test was applied to detect the B and H antigens in saliva, and the Sanger sequencing and PacBio (Pacific Bioscience) third-generation haplotype sequencing were performed on the study subjects to identify genotypes. Finally, Expasy software were applied to amino acid translation of DNA sequences and prediction of protein length after gene alteration. ORF finder was applied to predict alternative start codons as well as open reading frames of mRNA, and protein expression mechanisms were analyzed.Results:The proband and her sister were B el subtype, her mother was AB el subtype, her father was normal O type, and all members of the family were Le(a+b+) phenotype. Sanger sequencing results showed that a new allele of c.175_176insGA was found in exon 4 of the proband, her mother, and her sister. Third-generation haplotype sequencing detected the haplotypes of the family members, which revealed that the proband was ABO*O.01.02/ABO*BEL.NEW (c.175_176insGA), the father was ABO*O.01.02/ABO*O.01.02, the mother was ABO*A1.02/ABO*BEL.NEW (c.175_176insGA), and the sister was ABO*O.01.02/ABO*BEL.NEW (c.175_176insGA). Analysis of the protein expression mechanism indicated that although the new allele of ABO*BEL.NEW was presumed to cause a frameshift mutation and result in a premature stop codon p.Asp59Glu*fs20 in exon 5, encoding an inactive glycosyltransferase, an alternative start codon could be utilized to initiate translation of B el subtype functional glycosyltransferase. Conclusion:Expression of the new allele of B el subtype is associated with the translation of B el subtype glycosyltransferase initiated by alternative start codons.

Objective:To investigate the quality of life (QoL) and its related influencing factors of patients undergoing laparoscopic hiatal hernia repair (LHHR).Methods:The retrospec-tive cohort study was conducted. The clinical data of 215 patients undergoing LHHR in Beijing Chaoyang Hospital of Capital Medical University from August 2020 to April 2022 were collected. There were 90 males and 125 females, aged (62±14)years. All patients underwent symptom scoring and quality of life assessment 6 months after LHHR. Measurement data with normal distribution were represented as Mean± SD, and comparison before and after operation within the group was conducted using the paired t test. Measurement data with skewed distribution were represented as M(range). Stepwise linear regression analysis was used for influencing factors analysis. Optimal model was selected based on Akaike information criterion. Results:(1) Treatment. Of 215 patients, 162 cases underwent LHHR+gastric fundus folding surgery (Dor surgery), and 53 cases underwent LHHR+reconstruction of HIS angle. The score of visual analogue scale (VAS) of heartburn symptoms in 215 patients 6 months after surgery was 0(range, 0-4), with the score of VAS of acid reflux symptoms was 0(range, 0-9), the score of VAS of belching symptoms was 0(range, 0-9), the score of VAS of chest pain symptoms was 0(range, 0-9), the score of VAS of early satiety symptoms was 0(range, 0-9), respectively. (2) Assessment of QoL before and after surgery. The score of MOS item short from health survey (SF-36) of physiological function in 215 patients before and after LHHR was 80±24 and 87±18, with the score of SF-36 of physiological functionality before and after LHHR was 49±45 and 68±38, the score of SF-36 of body pain before and after LHHR was 65±23 and 74±19, the score of SF-36 of general health condition before and after LHHR was 46±7 and 51±9, the score of SF-36 of vigour before and after LHHR was 67±19 and 75±17, the score of SF-36 of social function before and after LHHR was 71±24 and 81±18, the score of SF-36 of emotional function before and after LHHR was 60±45 and 77±33, the score of SF-36 of emotional health before and after LHHR was 68±19 and 76±17, the score of SF-36 of health change before and after LHHR was 33±19 and 57±28. There were significant differences in the above indicators before and after surgery ( t=-7.82, -8.73, -8.20, -10.08, -9.75, -8.83, -8.00, -9.88, -12.95, P<0.05). (3) Factors influencing physical compo-nent summary (PCS) and mental component summary (MCS) 6 months after LHHR. Results of multi-variate analysis showed that gender, age, mental disease, cerebral infarction, hypoproteinemia, score of VAS of acid reflux 6 month after surgery and score of VAS of chest pain 6 month after surgery were independent factors influencing PCS 6 months after LHHR ( P<0.05), and mental disease, malignant tumor, hypoproteinemia, score of VAS of heartburn 6 month after surgery and score of VAS of belching 6 month after surgery were independent factors influencing MCS 6 months after LHHR ( P<0.05). Conclusions:LHHR can improve patients′ QoL. Gender, age, mental disease, cerebral infarc-tion, hypoproteinemia, score of VAS of acid reflux 6 month after surgery and score of VAS of chest pain 6 month after surgery are independent factors influencing PCS 6 months after LHHR, and mental disease, malignant tumor, hypoproteinemia, score of VAS of heartburn 6 month after surgery and score of VAS of belching 6 month after surgery are independent factors influencing MCS 6 months after LHHR.

Objective:To investigate the quality of life (QoL) and its related influencing factors of patients undergoing laparoscopic hiatal hernia repair (LHHR).Methods:The retrospec-tive cohort study was conducted. The clinical data of 215 patients undergoing LHHR in Beijing Chaoyang Hospital of Capital Medical University from August 2020 to April 2022 were collected. There were 90 males and 125 females, aged (62±14)years. All patients underwent symptom scoring and quality of life assessment 6 months after LHHR. Measurement data with normal distribution were represented as Mean± SD, and comparison before and after operation within the group was conducted using the paired t test. Measurement data with skewed distribution were represented as M(range). Stepwise linear regression analysis was used for influencing factors analysis. Optimal model was selected based on Akaike information criterion. Results:(1) Treatment. Of 215 patients, 162 cases underwent LHHR+gastric fundus folding surgery (Dor surgery), and 53 cases underwent LHHR+reconstruction of HIS angle. The score of visual analogue scale (VAS) of heartburn symptoms in 215 patients 6 months after surgery was 0(range, 0-4), with the score of VAS of acid reflux symptoms was 0(range, 0-9), the score of VAS of belching symptoms was 0(range, 0-9), the score of VAS of chest pain symptoms was 0(range, 0-9), the score of VAS of early satiety symptoms was 0(range, 0-9), respectively. (2) Assessment of QoL before and after surgery. The score of MOS item short from health survey (SF-36) of physiological function in 215 patients before and after LHHR was 80±24 and 87±18, with the score of SF-36 of physiological functionality before and after LHHR was 49±45 and 68±38, the score of SF-36 of body pain before and after LHHR was 65±23 and 74±19, the score of SF-36 of general health condition before and after LHHR was 46±7 and 51±9, the score of SF-36 of vigour before and after LHHR was 67±19 and 75±17, the score of SF-36 of social function before and after LHHR was 71±24 and 81±18, the score of SF-36 of emotional function before and after LHHR was 60±45 and 77±33, the score of SF-36 of emotional health before and after LHHR was 68±19 and 76±17, the score of SF-36 of health change before and after LHHR was 33±19 and 57±28. There were significant differences in the above indicators before and after surgery ( t=-7.82, -8.73, -8.20, -10.08, -9.75, -8.83, -8.00, -9.88, -12.95, P<0.05). (3) Factors influencing physical compo-nent summary (PCS) and mental component summary (MCS) 6 months after LHHR. Results of multi-variate analysis showed that gender, age, mental disease, cerebral infarction, hypoproteinemia, score of VAS of acid reflux 6 month after surgery and score of VAS of chest pain 6 month after surgery were independent factors influencing PCS 6 months after LHHR ( P<0.05), and mental disease, malignant tumor, hypoproteinemia, score of VAS of heartburn 6 month after surgery and score of VAS of belching 6 month after surgery were independent factors influencing MCS 6 months after LHHR ( P<0.05). Conclusions:LHHR can improve patients′ QoL. Gender, age, mental disease, cerebral infarc-tion, hypoproteinemia, score of VAS of acid reflux 6 month after surgery and score of VAS of chest pain 6 month after surgery are independent factors influencing PCS 6 months after LHHR, and mental disease, malignant tumor, hypoproteinemia, score of VAS of heartburn 6 month after surgery and score of VAS of belching 6 month after surgery are independent factors influencing MCS 6 months after LHHR.