1.The Abnormal Karyotype Spectrum, Disease Correlation and Characteristics of High-frequency Gene Mutations in Patients with Lymphohematopoietic System Diseases
Feicheng YANG ; Jie HU ; Qing HU ; Yanchun LI ; Xiao LIU ; Xiaming TAN
Journal of Sun Yat-sen University(Medical Sciences) 2026;47(2):306-314
ObjectiveTo analyze the characteristics of chromosomal variations and disease spectrum in patients with lymphohematopoietic system diseases in Hunan region. MethodsA cross-sectional study was conducted, collecting clinical data of 548 patients with lymphohematopoietic system diseases who underwent bone marrow chromosome karyotype analysis at Hunan Provincial People's Hospital from January 2021 to July 2025. G-banding technique was used to detect bone marrow chromosome karyotypes, and chromosome number and structural abnormalities were determined in accordance with the International System for Human Cytogenomic Nomenclature (ISCN) 2024. Retrospective statistical analysis was performed to correlate karyotype abnormality data with disease phenotypes such as myelodysplastic syndrome and acute/chronic leukemia. Classification of the types, frequencies, and reproducibility of variations was calculated to clarify the correlation between karyotypes and disease phenotypes. ResultsAmong the 548 patients who completed bone marrow chromosome karyotype analysis, 127 had chromosomal abnormalities (84 males and 43 females, mean age 58.26 years). Among patients with autosomal abnormalities, 64 cases were detected with translocations (a total of 67 mutations), with t(9;22)(q34;q11.2) (22 cases) and t(15;17)(q24;q21) (10 cases) as high-frequency translocations. Chromosomes 9, 15, etc. were high-frequency variant chromosomes, and 29 cases had complex mutations such as deletions/duplications, with +8 being the common type. There were 27 cases of sex chromosome abnormalities: 7 cases of X chromosome abnormalities (2 cases of chimerism) and 20 cases of Y chromosome deletions (7 cases of 45,X,-Y/46,XY chimerism). Karyotype-disease correlation showed that t(9;22) was detected 9 times in acute leukemia and 8 times in chronic myeloid leukemia; +8, -Y, etc. were associated with multiple types of hematological diseases, and the same karyotype could correspond to multiple disease phenotypes. ConclusionThe high-frequency chromosomal abnormalities, karyotype-disease correlations, and high-frequency NGS genes in patients with lymphohematopoietic system diseases, providing a basis for their precise diagnosis and treatment.
2.Flight fatigue among helicopter flying personnel and contributing factors
Tunan CHEN ; Yan LIU ; Xue YANG ; Baoquan CHENG ; Zhenhao FENG ; Jishu XIAN ; Rui WANG ; Yanchun ZHANG ; Lihua WANG
Chinese Journal of Aerospace Medicine 2025;36(3):167-174
Objective:To investigate the prevalence of flight fatigue among helicopter flying personnel and analyze its contributors in order to provide data for related interventions.Methods:A cross-sectional study was conducted among 404 helicopter flying personnel between October 8, 2021 and July 31, 2022. Data was collected using a self-designed questionnaire, involving the demography of these subjects, sleep-related factors, flight fatigue, perceived causes of fatigue and coping strategies. The Pittsburgh Sleep Quality Index (PSQI), National Aeronautics and Space Administration Task Load Index (NASA-TLX) and Modified Fatigue Impact Scale (MFI-20) were used to assess sleep quality, mental workload, and levels of flight fatigue over the past month. The total scores of MFI-20 were compared across demographic groups, and correlations with PSQI and NASA-TLX scores were analyzed. Multiple linear regression was performed to identify the determinants of flight fatigue.Results:①Demography: among the 404 helicopter flying personnel, 92.8% (375/404) were pilots and 7.2% (29/404) navigators. As for years of service, 41.6% (168/404) served less than 5 years, while 58.4% (236/404) served more than 5 years. 37.9% (153/404) had a family history of insomnia. 18.8% (76/404) did not habitually nap, 68.9% (226/328) napped for ≤30 min, 31.1% (102/328) napped over 30 min, and 18.3% (74/404) had insomnia over the past month. As for helicopter flying personnel, 75.5% (305/404) reported experiencing fatigue, with 69.1% (279/404) attributing it to flight-related factors and 51.5% (208/404) using coffee as a countermeasure.②Scale scores: the total score of PSQI was [5 (3, 7)], while the highest daytime dysfunction score was [1(0, 2)]. The total score of NASA-TLX was [39.19 (26.57, 51.97)], and the effort score was the highest [10.31(5.07, 14.60)]. The total score of MFI-20 averaged (47.28±14.88), with the mental fatigue score being the highest [(10.03±4.42)]. ③Comparisons of MFI-20 total scores: flying personnel with ≤5 years of flying experience had higher MFI-20 total scores than those with >5 years, and those with a family history of insomnia had higher scores than those without ( t=3.35, 2.44, P=0.001, 0.015). Individuals with insomnia over the past month had higher scores than non-insomniacs ( t=3.33, P=0.001). Significant differences in MFI-20 scores were observed based on nap duration ( F=19.95, P<0.001). Non-nappers had higher scores than those napping for ≤30 min ( P=0.005). Flying personnel who napped for >30 min had higher scores than those did not ( P=0.043) or napped for ≤30 min ( P<0.001). ④Correlation analysis: the total score of MFI-20 was positively correlated with sleep quality, sleep latency, sleep disturbances, hypnotic medications, daytime dysfunction, and the total score of PSQI ( r=0.118-0.226, all P<0.05), but negatively with sleep duration ( r=-0.136, P=0.006). The total score of MFI-20 was positively correlated with mental demand, physical demand, and the total score of NASA-TLX ( r=0.119, 0.168, 0.184, P=0.017, 0.001, <0.001). ⑤Multiple linear regression analysis: the determinants of flight fatigue included aircraft types ( B=-4.956, 95% CI:-8.124--1.788), nap duration ( B=3.693, 95% CI: 1.267-6.119), sleep latency ( B=2.371, 95% CI: 0.229-4.513), sleep duration ( B=-7.383, 95% CI:-10.008--4.758), daytime dysfunction ( B=5.003, 95% CI: 2.967-7.039) and physical workload ( B=0.611, 95% CI: 0.324-0.898). Conclusions:Helicopter flying personnel are vulnerable to flight fatigue, which is strongly linked to sleep quality and mental workload. It is crucial to address flying personnel′s self-perceived fatigue, care about fatigue manifestations across aircraft types, and implement targeted interventions to improve sleep quality and reduce mental workload.
3.Effects of different training weights on energy expenditure of young males during squatting
Zhengji QIAO ; Yunna GAO ; Junchao YANG ; Yanchun LI ; Yang WANG
Chinese Journal of Sports Medicine 2025;44(1):3-12
Objective To explore the effect of training weights on energy expenditure(EE)among young males during squatting.Methods Twenty young males with strength training experience≥1 year were recruited and performed 3 sets of squats,with 5 repetitions per set,at 40%1RM,60%1RM and 80%1RM,respectively,with an interval of at least 72 hours.Oxygen uptake(VO2),heart rate,blood lactate,and the mechanical work on the barbell during squat exercises were measured before,during,and after each sets.Moreover,one-way repeated-measures ANOVA was used to compare EE differenc-es between different training weights,and two-way ANOVA was employed to examine the weight×method effect on metabolic equivalent(MET)values.Meanwhile,Pearson's correlation analysis was conducted to examine the correlation between EE and barbell mechanical work.Results(1)Training weight has significant effects on the total energy expenditure and EE during excess post-exercise oxy-gen consumption(EPOC)stage(P<0.001),while a significant increase was observed in the glycolytic EE only at 80%1RM and the aerobic EE with no less than 60%1RM(P<0.01 and P<0.05).(2)The percentage of EPOC-stage and glycolytic EE in the total energy expenditure was significantly higher than the aerobic EE(P<0.01),while that of aerobic EE at 40%1RM and 60%1RM was significantly higher than at 80%1RM(P<0.01).(3)Total energy expenditure(r=0.65,P<0.001)and EPOC-stage EE(r=0.68,P<0.001)showed moderate correlation with the mechanical work done.(4)Aerobic EE was significantly lower than the mechanical work done during squatting(P<0.001).Moreover,the MET values of squats calculated using aerobic EE during exercise at 40%-80%1RM was 2.42±0.54,2.89±0.87 and 2.7±0.56,while the MET ones calculated using the total energy expenditure reached 14.99±2.94,20.52±4.51 and 28.57±6.88.Conclusions Only EPOC-stage and glycolytic EE elevate with the increase of weight.Moreover,EE and the MET value scalculated using VO2 dur-ing exercise may under estimate the actual intensity of squat.Meanwhile,the accuracy of EE estima-tion may be improved by introducing the mechanical work.
4.Exploration of relationship between IL-17/IL-23 immunoinflammatory axis and chronic heart failure and clinical prognosis
Mingyan CHENG ; Jinghua WANG ; Wenyue WANG ; Na TIAN ; Yanfei GAO ; Yanchun WANG ; Tao YANG
Chinese Journal of Immunology 2025;41(1):153-156,162
Objective:To investigate relationship between IL-17/IL-23 immunoinflammatory axis and chronic heart failure(CHF)and clinical prognosis.Methods:A total of 112 patients with CHF in Chengde Central Hospital from January 2020 to Septem-ber 2021 were selected as observation group,and another 112 patients admitted to same period for healthy physical examination were selected as control group.Serum IL-17 and IL-23 levels of two groups were compared,relationship between serum IL-17 and IL-23 levels and degree of disease were analyzed;clinical data,serum IL-17 and IL-23 levels of patients with different prognosis were compared,relationship between serum IL-17 and IL-23 levels and clinical prognosis of CHF patients were analyzed.Predictive value of serum IL-17 and IL-23 levels on clinical prognosis of CHF patients was evaluated,and predictive value of each prediction scheme was compared.Results:Serum IL-17 and IL-23 levels were higher in observation group than control group(P<0.05);serum IL-17 and IL-23 levels of CHF patients were positively correlated with NYHA classification(P<0.05).Serum IL-17 and IL-23 levels were higher in patients with poor prognosis than in those with good prognosis(P<0.05).Serum IL-17 and IL-23 were independently associated with clinical prognosis of CHF patients,and the higher the serum IL-17 and IL-23 levels,the greater risk of poor clinical prognosis of CHF patients.AUC of serum IL-17 and IL-23 levels for predicting clinical prognosis of CHF patients were 0.787 and 0.726,respectively,and combined predicted AUC was 0.918(P<0.001);combined predicted AUC of serum IL-17 and IL-23 was significantly higher than single index(P<0.05).Conclusion:IL-17 and IL-23 levels in IL-17/IL-23 immunoinflammatory axis of CHF patients are significantly elevated and involve in disease occurence and development,whose clinical detection can help predict clinical prognosis of CHF.
5.Effects of different training weights on energy expenditure of young males during squatting
Zhengji QIAO ; Yunna GAO ; Junchao YANG ; Yanchun LI ; Yang WANG
Chinese Journal of Sports Medicine 2025;44(1):3-12
Objective To explore the effect of training weights on energy expenditure(EE)among young males during squatting.Methods Twenty young males with strength training experience≥1 year were recruited and performed 3 sets of squats,with 5 repetitions per set,at 40%1RM,60%1RM and 80%1RM,respectively,with an interval of at least 72 hours.Oxygen uptake(VO2),heart rate,blood lactate,and the mechanical work on the barbell during squat exercises were measured before,during,and after each sets.Moreover,one-way repeated-measures ANOVA was used to compare EE differenc-es between different training weights,and two-way ANOVA was employed to examine the weight×method effect on metabolic equivalent(MET)values.Meanwhile,Pearson's correlation analysis was conducted to examine the correlation between EE and barbell mechanical work.Results(1)Training weight has significant effects on the total energy expenditure and EE during excess post-exercise oxy-gen consumption(EPOC)stage(P<0.001),while a significant increase was observed in the glycolytic EE only at 80%1RM and the aerobic EE with no less than 60%1RM(P<0.01 and P<0.05).(2)The percentage of EPOC-stage and glycolytic EE in the total energy expenditure was significantly higher than the aerobic EE(P<0.01),while that of aerobic EE at 40%1RM and 60%1RM was significantly higher than at 80%1RM(P<0.01).(3)Total energy expenditure(r=0.65,P<0.001)and EPOC-stage EE(r=0.68,P<0.001)showed moderate correlation with the mechanical work done.(4)Aerobic EE was significantly lower than the mechanical work done during squatting(P<0.001).Moreover,the MET values of squats calculated using aerobic EE during exercise at 40%-80%1RM was 2.42±0.54,2.89±0.87 and 2.7±0.56,while the MET ones calculated using the total energy expenditure reached 14.99±2.94,20.52±4.51 and 28.57±6.88.Conclusions Only EPOC-stage and glycolytic EE elevate with the increase of weight.Moreover,EE and the MET value scalculated using VO2 dur-ing exercise may under estimate the actual intensity of squat.Meanwhile,the accuracy of EE estima-tion may be improved by introducing the mechanical work.
6.Exploration of relationship between IL-17/IL-23 immunoinflammatory axis and chronic heart failure and clinical prognosis
Mingyan CHENG ; Jinghua WANG ; Wenyue WANG ; Na TIAN ; Yanfei GAO ; Yanchun WANG ; Tao YANG
Chinese Journal of Immunology 2025;41(1):153-156,162
Objective:To investigate relationship between IL-17/IL-23 immunoinflammatory axis and chronic heart failure(CHF)and clinical prognosis.Methods:A total of 112 patients with CHF in Chengde Central Hospital from January 2020 to Septem-ber 2021 were selected as observation group,and another 112 patients admitted to same period for healthy physical examination were selected as control group.Serum IL-17 and IL-23 levels of two groups were compared,relationship between serum IL-17 and IL-23 levels and degree of disease were analyzed;clinical data,serum IL-17 and IL-23 levels of patients with different prognosis were compared,relationship between serum IL-17 and IL-23 levels and clinical prognosis of CHF patients were analyzed.Predictive value of serum IL-17 and IL-23 levels on clinical prognosis of CHF patients was evaluated,and predictive value of each prediction scheme was compared.Results:Serum IL-17 and IL-23 levels were higher in observation group than control group(P<0.05);serum IL-17 and IL-23 levels of CHF patients were positively correlated with NYHA classification(P<0.05).Serum IL-17 and IL-23 levels were higher in patients with poor prognosis than in those with good prognosis(P<0.05).Serum IL-17 and IL-23 were independently associated with clinical prognosis of CHF patients,and the higher the serum IL-17 and IL-23 levels,the greater risk of poor clinical prognosis of CHF patients.AUC of serum IL-17 and IL-23 levels for predicting clinical prognosis of CHF patients were 0.787 and 0.726,respectively,and combined predicted AUC was 0.918(P<0.001);combined predicted AUC of serum IL-17 and IL-23 was significantly higher than single index(P<0.05).Conclusion:IL-17 and IL-23 levels in IL-17/IL-23 immunoinflammatory axis of CHF patients are significantly elevated and involve in disease occurence and development,whose clinical detection can help predict clinical prognosis of CHF.
7.Flight fatigue among helicopter flying personnel and contributing factors
Tunan CHEN ; Yan LIU ; Xue YANG ; Baoquan CHENG ; Zhenhao FENG ; Jishu XIAN ; Rui WANG ; Yanchun ZHANG ; Lihua WANG
Chinese Journal of Aerospace Medicine 2025;36(3):167-174
Objective:To investigate the prevalence of flight fatigue among helicopter flying personnel and analyze its contributors in order to provide data for related interventions.Methods:A cross-sectional study was conducted among 404 helicopter flying personnel between October 8, 2021 and July 31, 2022. Data was collected using a self-designed questionnaire, involving the demography of these subjects, sleep-related factors, flight fatigue, perceived causes of fatigue and coping strategies. The Pittsburgh Sleep Quality Index (PSQI), National Aeronautics and Space Administration Task Load Index (NASA-TLX) and Modified Fatigue Impact Scale (MFI-20) were used to assess sleep quality, mental workload, and levels of flight fatigue over the past month. The total scores of MFI-20 were compared across demographic groups, and correlations with PSQI and NASA-TLX scores were analyzed. Multiple linear regression was performed to identify the determinants of flight fatigue.Results:①Demography: among the 404 helicopter flying personnel, 92.8% (375/404) were pilots and 7.2% (29/404) navigators. As for years of service, 41.6% (168/404) served less than 5 years, while 58.4% (236/404) served more than 5 years. 37.9% (153/404) had a family history of insomnia. 18.8% (76/404) did not habitually nap, 68.9% (226/328) napped for ≤30 min, 31.1% (102/328) napped over 30 min, and 18.3% (74/404) had insomnia over the past month. As for helicopter flying personnel, 75.5% (305/404) reported experiencing fatigue, with 69.1% (279/404) attributing it to flight-related factors and 51.5% (208/404) using coffee as a countermeasure.②Scale scores: the total score of PSQI was [5 (3, 7)], while the highest daytime dysfunction score was [1(0, 2)]. The total score of NASA-TLX was [39.19 (26.57, 51.97)], and the effort score was the highest [10.31(5.07, 14.60)]. The total score of MFI-20 averaged (47.28±14.88), with the mental fatigue score being the highest [(10.03±4.42)]. ③Comparisons of MFI-20 total scores: flying personnel with ≤5 years of flying experience had higher MFI-20 total scores than those with >5 years, and those with a family history of insomnia had higher scores than those without ( t=3.35, 2.44, P=0.001, 0.015). Individuals with insomnia over the past month had higher scores than non-insomniacs ( t=3.33, P=0.001). Significant differences in MFI-20 scores were observed based on nap duration ( F=19.95, P<0.001). Non-nappers had higher scores than those napping for ≤30 min ( P=0.005). Flying personnel who napped for >30 min had higher scores than those did not ( P=0.043) or napped for ≤30 min ( P<0.001). ④Correlation analysis: the total score of MFI-20 was positively correlated with sleep quality, sleep latency, sleep disturbances, hypnotic medications, daytime dysfunction, and the total score of PSQI ( r=0.118-0.226, all P<0.05), but negatively with sleep duration ( r=-0.136, P=0.006). The total score of MFI-20 was positively correlated with mental demand, physical demand, and the total score of NASA-TLX ( r=0.119, 0.168, 0.184, P=0.017, 0.001, <0.001). ⑤Multiple linear regression analysis: the determinants of flight fatigue included aircraft types ( B=-4.956, 95% CI:-8.124--1.788), nap duration ( B=3.693, 95% CI: 1.267-6.119), sleep latency ( B=2.371, 95% CI: 0.229-4.513), sleep duration ( B=-7.383, 95% CI:-10.008--4.758), daytime dysfunction ( B=5.003, 95% CI: 2.967-7.039) and physical workload ( B=0.611, 95% CI: 0.324-0.898). Conclusions:Helicopter flying personnel are vulnerable to flight fatigue, which is strongly linked to sleep quality and mental workload. It is crucial to address flying personnel′s self-perceived fatigue, care about fatigue manifestations across aircraft types, and implement targeted interventions to improve sleep quality and reduce mental workload.
8.Assessment on the diagnostic value of multimodal ultrasound technique for the lesion of ECU tendon caused by rheumatoid arthritis
Ce SHI ; Shanling YANG ; Yanjie YONG ; Yanchun ZHANG ; Mei LI ; Shuyan JIANG
China Medical Equipment 2024;21(6):87-90,95
Objective:To investigate the study on the diagnostic value of multimodal ultrasound technique for the lesion of extensor carpi ulnaris(ECU)tendon in patients with rheumatoid arthritis(RA).Methods:A total of 175 RA patients who were confirmed by the department of rheumatology of Yantaishan Hospital of Yantai city from December 2021 to January 2023 were selected,and them were included into the RA group.Other 50 patients without RA but with clinical symptoms of wrist were included into the non-RA group,and 50 healthy volunteers were included into the healthy control group.All subjects underwent routine ultrasound and shear wave elastography(SWE)examination on wrist,and then,the characteristics of ultrasound images of wrists and the blood flow distribution of ECU power Doppler ultrasonography(PDUS)were recorded.SWE was used to measure ECU to obtain elastic modulus index(EI)and velocity modulus index(VI).The differences between three groups were compared,and the receiver operating characteristic(ROC)value of RA patients were drawn,so as to confirm the area under curve(AUC)value and optimize cutoff value.Results:There were significant differences in EI and VI of the ECU tendon among three groups(F=61.15,61.28,P<0.05),respectively.The optimal cut-off values of EI and VI were respectively 319.35 kPa and 10.55 m/s in RA patients.In RA patients,age and disease course had significant influences on EI(r=0.19,0.21,P<0.05),and age,disease course,ultrasound score of wrist joint,and grade of power Doppler ultrasonography PDUS of the ECU tendon(ECUPDUS)had significant influences on VI(r=0.19,0.15,-0.16,-0.17,P<0.05).Conclusion:SWE is able to quantitatively and non-invasively assess the stiffness information of the ECU tendon in RA patients.After the supplement of gray-scale ultrasound and PDUS,multimodal ultrasound technique can clearly judge the correlation of the lesions of ECU tendon of RA patients.
9.Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene
Meiyan YU ; Xiaomei LIU ; Ni RAN ; Zhaochuan YANG ; Yanchun SHAN
Chinese Journal of Medical Genetics 2024;41(3):271-277
Objective:To retrospectively analyze the clinical and genetic characteristics of six patients with Acromicric dysplasia due to variants of the FBN1 gene. Methods:Six patients who had visited the Affiliated Hospital of Qingdao University between February 2018 and October 2020 were selected as the study subjects. Clinical data of the patients were collected. High-throughput sequencing was carried out. And candidate variants were verified by Sanger sequencing.Results:All of the six patients had presented with severe short stature (< 3 s), brachydactyly, short and broad hands and feet. Other manifestations included joint stiffness, facial dysmorphism, delayed bone age, liver enlargement, coracoid femoral head, and lumbar lordosis. Genetic testing revealed that all had harbored heterozygous variants of the FBN1 gene. Patient 1 had harbored a c. 5183C>T (p.A1728V) missense variant in exon 42, which had derived from his father (patient 2). Patient 3 had harbored a c. 5284G>A (p.G1762S) missense variant in exon 43, which had derived from her mother (patient 4). Patient 5 had harbored a c. 5156G>T (p.C1719F) missense variant in exon 42, which was de novo in origin. Patient 6 had harbored a c. 5272G>T (p.D1758Y) missense variant in exon 43, which was also de novo in origin. The variants carried by patients 1, 3 and 6 were known to be pathogenic. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the FBN1: c. 5156G>T was rated as a pathogenic variant (PS2+ PM1+ PM2_Supporting + PM5+ PP3). Conclusion:All of the six patients had severe short stature and a variety of other clinical manifestations, which may be attributed to the variants of the FBN1 gene.
10.Status of parent-child bed sharing and its influences on children
Min XU ; Yanchun SHAN ; Ni RAN ; Zhaochuan YANG ; Mingji YI
Chinese Journal of Child Health Care 2024;32(3):312-316
The influence of bed sharing on children′s physical and psychological health has been concerned as one of the main types of sleep arrangements.At present, there are significant differences in bed sharing among children of different ages, groups, regions and races.There are also studies on the impact of bed sharing sleep on children′s health, on the one hand, it is conducive to breastfeeding, where infants get enough security; on the other hand, it leads to an increase in the incidence of sudden infant death syndrome, and an increase in the number of night awakenings.Therefore, it is important to understand the current research situation of bed sharing and its influences on children, thus to better promote children healthy growth.

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