OBJECTIVE: To explore the mechanism and clinical manifestations of a case with complex structural variations involving chromosomes 5, 7, and 14, and assess the value of Chromosome conformation-based karyotyping (C-MoKa) for its diagnosis. METHODS: Two half-sibs by the same father presented at the First Hospital of Lanzhou University in December 2024 for severe multi-system abnormalities were selected as study subjects. Peripheral blood samples from the their parents were subjected to conventional chromosomal karyotyping analysis. The father was further analyzed using C-MoKa, while both siblings underwent copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: LDYYSZLLKH2025-05). RESULTS: Conventional karyotype analysis indicated that the father has a karyotype of 46,XY,add(5)(p15.3). CNV-seq identified multiple chromosomal abnormalities in both siblings, including duplications and deletions of chromosomes 14 and 5. C-MoKa analysis further revealed a complex chromosomal structural variation involving chromosomes 5, 7, and 14 in the father. These variations were closely associated with the severe phenotypes noted in both children. CONCLUSION Complex chromosomal structural variations can lead to multi-system abnormalities and significantly impact reproductive health. Compared to conventional karyotyping, the C-MoKa technique has shown significant advantage in identifying such complex rearrangements. The combined application of multiple techniques can improve the accuracy of diagnosis, enabling genetic counseling for carriers to reduce their risk for producing further affected offspring.
Female ; Humans ; Male ; China ; Chromosome Aberrations ; DNA Copy Number Variations/genetics* ; Karyotyping ; Pedigree ; East Asian People/genetics*

Objective To explore the potential categories of diet management ability in elderly patients suffering from diabetes and analyze the influencing factors of different potential categories,for the reference of clinical nurs-ing practice.Methods A convenient sampling method was used to select elderly patients suffering from diabetes with the risk of malnutrition treated in endocrinology departments in 2 tertiary hospitals in Zhenjiang City,Jiangsu Province from September 2023 to September 2024.General information questionnaire,Diabetes Diet Management Scale,Electronic Health Literacy Scale,Simple Disease Perception Scale and Perceived Social Support Scale were used for investigation.Results A total of 376 questionnaires were sent out,in which 349 were effectively collected with an effective questionnaire recovery rate of 92.8％.Totally 3 potential categories of diet management behavior were identified through the analysis of effective questionnaire,namely low self-management(24.9％),middle self-man-agement(45.9％)and high self-management(29.2％).Disease duration of diabetes,glycosylated hemoglobin level,Al-bumin level,E-health literacy,perceived family support level and disease perception level were the risk factors of diet management ability in elderly patients suffering from diabetes with the risk of malnutrition(P＜0.05).Conclusion There are significant category characteristics of diet management ability in elderly patients suffering from diabetes with the risk of malnutrition.Medical staff can formulate targeted clinical intervention measures to help patients im-prove their diet management ability according to different category characteristics.

With rapid development of technology,generative artificial intelligence has emerged as a research hotspot in field of artificial intelligence,and demonstrates immense potential to enhance quality of medical education,reduce educational costs,and optimize allocation of educational resources in medical education.Medical Immunology is a complex and continuously evolving disci-pline that not only encompasses a vast amount of basic knowledge but also involves interdisciplinary intersections,which involves extensive foundational knowledge,cross-disciplinary integration and cutting-edge research.Furthermore,rapid updates in research progress,coupled with abstract and complex nature of content,pose significant challenges for teaching.Therefore,analyzing teaching advantages of generative artificial intelligence in empowering Medical Immunology,exploring its practical applications in Medical Immunology education,and innovating theoretical education systems and methodologies are of great significance for improving quality of Medical Immunology education.

Objective To explore the potential categories of diet management ability in elderly patients suffering from diabetes and analyze the influencing factors of different potential categories,for the reference of clinical nurs-ing practice.Methods A convenient sampling method was used to select elderly patients suffering from diabetes with the risk of malnutrition treated in endocrinology departments in 2 tertiary hospitals in Zhenjiang City,Jiangsu Province from September 2023 to September 2024.General information questionnaire,Diabetes Diet Management Scale,Electronic Health Literacy Scale,Simple Disease Perception Scale and Perceived Social Support Scale were used for investigation.Results A total of 376 questionnaires were sent out,in which 349 were effectively collected with an effective questionnaire recovery rate of 92.8％.Totally 3 potential categories of diet management behavior were identified through the analysis of effective questionnaire,namely low self-management(24.9％),middle self-man-agement(45.9％)and high self-management(29.2％).Disease duration of diabetes,glycosylated hemoglobin level,Al-bumin level,E-health literacy,perceived family support level and disease perception level were the risk factors of diet management ability in elderly patients suffering from diabetes with the risk of malnutrition(P＜0.05).Conclusion There are significant category characteristics of diet management ability in elderly patients suffering from diabetes with the risk of malnutrition.Medical staff can formulate targeted clinical intervention measures to help patients im-prove their diet management ability according to different category characteristics.

Objective:To establish daily quality assurance workflow based on self-developed phantom to ensure MR-linac performance such as beam accuracy, MR image guidance accuracy, and the clinical treatment workflow to enhance the efficiency of daily quality assurance (QA).Methods:The self-developed phantom was made by 3D printer and used in conjunction with Daily QA-MR detector array. After CT-sim scanning, a treatment plan was designed and transmitted to the accelerator, tests were performed such as image guidance accuracy, beam output and beam quality, the differences in daily QA results between the self-developed phantom and standard phantom recommended by the manufacturer were analyzed by using paired t-test. Results:A total of 24 sets results were collected, the image guide accuracy in the X, Y and Z directions between standard and self-made phantom were (0.1±0.4), (-0.14±0.16), (0.07±0.05) mm and (0±0.02), (-0.02±0.02), (0.02±0.01) mm, respectively, and the differences were statistically significant ( P<0.001, =0.001 and <0.001). Daily QA-MR detector array beam measurement results including output, symmetry, beam quality and field size were -0.11%±0.20%, -0.10%±0.19%, -0.01%±0.08%, (0.4±0.1) mm and (0.2±0.1) mm, respectively. The new process saved 25% (approximately 9 min) of the time compared to the standard process. Conclusions:The new daily QA process for MR-linac is performed based on self-developed phantom and Daily QA-MR detector array. The accuracy and sensitivity meet the requirements and can improve the QA efficiency.

With rapid development of technology,generative artificial intelligence has emerged as a research hotspot in field of artificial intelligence,and demonstrates immense potential to enhance quality of medical education,reduce educational costs,and optimize allocation of educational resources in medical education.Medical Immunology is a complex and continuously evolving disci-pline that not only encompasses a vast amount of basic knowledge but also involves interdisciplinary intersections,which involves extensive foundational knowledge,cross-disciplinary integration and cutting-edge research.Furthermore,rapid updates in research progress,coupled with abstract and complex nature of content,pose significant challenges for teaching.Therefore,analyzing teaching advantages of generative artificial intelligence in empowering Medical Immunology,exploring its practical applications in Medical Immunology education,and innovating theoretical education systems and methodologies are of great significance for improving quality of Medical Immunology education.

Objective:To establish daily quality assurance workflow based on self-developed phantom to ensure MR-linac performance such as beam accuracy, MR image guidance accuracy, and the clinical treatment workflow to enhance the efficiency of daily quality assurance (QA).Methods:The self-developed phantom was made by 3D printer and used in conjunction with Daily QA-MR detector array. After CT-sim scanning, a treatment plan was designed and transmitted to the accelerator, tests were performed such as image guidance accuracy, beam output and beam quality, the differences in daily QA results between the self-developed phantom and standard phantom recommended by the manufacturer were analyzed by using paired t-test. Results:A total of 24 sets results were collected, the image guide accuracy in the X, Y and Z directions between standard and self-made phantom were (0.1±0.4), (-0.14±0.16), (0.07±0.05) mm and (0±0.02), (-0.02±0.02), (0.02±0.01) mm, respectively, and the differences were statistically significant ( P<0.001, =0.001 and <0.001). Daily QA-MR detector array beam measurement results including output, symmetry, beam quality and field size were -0.11%±0.20%, -0.10%±0.19%, -0.01%±0.08%, (0.4±0.1) mm and (0.2±0.1) mm, respectively. The new process saved 25% (approximately 9 min) of the time compared to the standard process. Conclusions:The new daily QA process for MR-linac is performed based on self-developed phantom and Daily QA-MR detector array. The accuracy and sensitivity meet the requirements and can improve the QA efficiency.

ObjectiveTo investigate the difference in bilateral lower limb muscle synergy mode during gait in patients after unilateral anterior cruciate ligament reconstruction. MethodsElectromyography from bilateral lower limb muscles during gait were collected from twelve male and eight female patients after unilateral anterior cruciate ligament reconstruction in Affiliated Hospital of Wuhan Sports University, from April to June, 2023. The data were analyzed using non-negative matrix decomposition algorithm to extract the number of muscle synergies in the affected and unaffected legs, the time to peak activation of muscle synergies and the relative weights of the muscles. ResultsSix types of muscle synergy were identified in the unaffected leg of males during gait, while five types were identified in the affected leg, lacking synergy 2 that mainly from the tibialis anterior muscle. Six types of muscle synergy were identified in both legs in females during gait. There was no significant difference in the time to peak activation of muscle synergies between both legs in males (P > 0.05). However, the time to peak activation of muscle synergies increased in females in the affected leg for synergy 3 and synergy 5 (P < 0.05). The relative weight of the rectus femoris was lower in synergy 1 in the affected leg in males (P < 0.05). For female, the relative weight of the vastus lateralis was higher and the relative weight of the biceps femoris was lower in synergy 2 in the affected leg in females (P < 0.05); while the relative weight of the rectus femoris was lower in synergy 3 (P < 0.05), and the relative weight of the biceps femoris was lower in synergy 6 (P < 0.05). ConclusionMales would freeze the muscle synergy dominating ankle dorsiflexion in affected leg to enhance ankle stability, and reduce the relative weight of rectus femoris during the loading response phase to weaken the knee landing cushioning. However, females would delay the activation of synergies dominating in loading response phase and the mid-stance phase, enhance the relative weight of vastus lateralis during the loading response phase, and reduce the relative weights of rectus femoris in the loading response phase and the relative weight of biceps femoris in the mid-stance phase, to limit knee flexion.

To investigate the degrees of EB virus reactivation in patients with inflammatory bowel disease (IBD) treated with different biologics and the levels of important cytokines associated with relapse under the influence of this virus, and to assess its diagnostic efficacy as a risk factor for identifying disease relapse. A case-control retrospective study based on patients′ hospitalization history data was conducted to select a total of 105 patients who were hospitalized in the Department of Gastroenterology, Huashan Hospital, Fudan University, with a confirmed diagnosis of IBD from 2021 to 2023. Based on the quantitative copy level of whole blood EBV DNA to determine the status of EB virus infection in patients, integrated cytokine 8 (IL-2, IL-4, IL-6, IL-10, IL-12p70, IL-17, TNF-α, IFN-γ), C-reactive protein, and fecal calreticulin, to find the risk variable associated with treatment relapse. Logistic regression was used to analyze the relative risk between this variable and treatment relapse, and ROC curves were used to predict the diagnostic efficacy of cytokine multifactorial thresholds for treatment relapse. Results showed that the median age of the study was 37(26, 54)years, with a minimum of 18 years and a maximum of 70 years, with a median age of 34(24, 51) years for Crohn′s Disease (CD) patients and 46(35, 60) years for Ulcerative colitis (UC) patients, with a statistically difference between the ages of the two groups ( t=2.675, P=0.009). The median age at 50 years of patients treated with Vedolizumab (VDZ) in the UC group was higher than in the treatment groups other than VDZ. The highest rate of EB virusreactivation was found in the group treated with immunosuppressants Azathioprine (AZA) combined with anti-tumor necrosis factor-α (anti-TNF-α) and VDZ (62.5% in both groups), and the lowest in the group treated with Ustekinumab (UST) (0%). IL-2 levels were elevated in the AZA+anti-TNF-α and anti-TNF-α groups after EB virus entryreactivation. Three treatment groups, AZA+anti-TNF-α, anti-TNF-α, and VDZ, had elevated levels of IL-6 expression after EB virus entry reactivation.In the anti-TNF-α treatment-related group IL-2was associated with treatment relapse in IBD ( OR=1.127, 95% CI: 1.044-1.256, P=0.007). ROC analysis showed that the AUC for IL-2 combined with EB virus in a replicative state was 0.8282 ( P=0.006), with a negative predictive value and a positive value of 90% and 75%, respectively. As well as IL-6 was associated with treatment relapse of IBD in the anti-TNF-αtreatment-related group as well as in the VDZ-treated group ( OR=1.049, 95% CI: 1.017-1.095, P=0.008). ROC analysis showed that the diagnostic sensitivity and specificity for post-treatment relapse at a critical value of 6.10 pg/ml for IL-6 was 83.33% and 82.93%, respectively. The AUC for IL-6 combined with EB virus in a replicative state was 0.900 ( P<0.000 1), with negative and positive predictive value of 84.09% and 73.33%, respectively. In summary, the imbalance of proinflammatory and anti-inflammatory cytokines varies between drugs, with EBV in a replication-activated state, combined with elevated levels of IL-2 as well as IL-6 expression being a risk factor for relapse in patients treated with anti-TNF-α-related drugs and VDZ.

To investigate the degrees of EB virus reactivation in patients with inflammatory bowel disease (IBD) treated with different biologics and the levels of important cytokines associated with relapse under the influence of this virus, and to assess its diagnostic efficacy as a risk factor for identifying disease relapse. A case-control retrospective study based on patients′ hospitalization history data was conducted to select a total of 105 patients who were hospitalized in the Department of Gastroenterology, Huashan Hospital, Fudan University, with a confirmed diagnosis of IBD from 2021 to 2023. Based on the quantitative copy level of whole blood EBV DNA to determine the status of EB virus infection in patients, integrated cytokine 8 (IL-2, IL-4, IL-6, IL-10, IL-12p70, IL-17, TNF-α, IFN-γ), C-reactive protein, and fecal calreticulin, to find the risk variable associated with treatment relapse. Logistic regression was used to analyze the relative risk between this variable and treatment relapse, and ROC curves were used to predict the diagnostic efficacy of cytokine multifactorial thresholds for treatment relapse. Results showed that the median age of the study was 37(26, 54)years, with a minimum of 18 years and a maximum of 70 years, with a median age of 34(24, 51) years for Crohn′s Disease (CD) patients and 46(35, 60) years for Ulcerative colitis (UC) patients, with a statistically difference between the ages of the two groups ( t=2.675, P=0.009). The median age at 50 years of patients treated with Vedolizumab (VDZ) in the UC group was higher than in the treatment groups other than VDZ. The highest rate of EB virusreactivation was found in the group treated with immunosuppressants Azathioprine (AZA) combined with anti-tumor necrosis factor-α (anti-TNF-α) and VDZ (62.5% in both groups), and the lowest in the group treated with Ustekinumab (UST) (0%). IL-2 levels were elevated in the AZA+anti-TNF-α and anti-TNF-α groups after EB virus entryreactivation. Three treatment groups, AZA+anti-TNF-α, anti-TNF-α, and VDZ, had elevated levels of IL-6 expression after EB virus entry reactivation.In the anti-TNF-α treatment-related group IL-2was associated with treatment relapse in IBD ( OR=1.127, 95% CI: 1.044-1.256, P=0.007). ROC analysis showed that the AUC for IL-2 combined with EB virus in a replicative state was 0.8282 ( P=0.006), with a negative predictive value and a positive value of 90% and 75%, respectively. As well as IL-6 was associated with treatment relapse of IBD in the anti-TNF-αtreatment-related group as well as in the VDZ-treated group ( OR=1.049, 95% CI: 1.017-1.095, P=0.008). ROC analysis showed that the diagnostic sensitivity and specificity for post-treatment relapse at a critical value of 6.10 pg/ml for IL-6 was 83.33% and 82.93%, respectively. The AUC for IL-6 combined with EB virus in a replicative state was 0.900 ( P<0.000 1), with negative and positive predictive value of 84.09% and 73.33%, respectively. In summary, the imbalance of proinflammatory and anti-inflammatory cytokines varies between drugs, with EBV in a replication-activated state, combined with elevated levels of IL-2 as well as IL-6 expression being a risk factor for relapse in patients treated with anti-TNF-α-related drugs and VDZ.