Objective:To analyze the diversity of Duffy blood group gene among ethnic Hui population from Henan Province using PacBio long-read sequencing technique.Methods:Randomly select 30 individuals with three generations of Hui ancestry from Henan as the study subjects. Full-length sequences of the Duffy blood group gene were obtained through PacBio long-read sequencing. Distribution of the predicted phenotype and genotype frequency were determined, and the linkage between Duffy haplotypes and variation sites was analyzed. Genetic diversity, natural selection pressure, and population genetic characteristics were evaluated. This study was approved by the Medical Ethics Committee of the Second Affiliated Hospital of Zhengzhou University (Ethics No. 202223).Results:The predicted Duffy blood group phenotype in the Henan Hui population was predominantly Fy(a+ b-). Three novel SNPs in the FY*01 allele were identified, with a total frequency of 13.33%, among which FY*01.NEW1 (c.199C>T) was the most common. A total of 32 variant sites were identified, with 28 located in intronic regions, indicating that genetic diversity was primarily concentrated in introns. The Duffy blood group gene was under negative selection pressure ( dN/ dS < 1, Tajima′s D, Fu and Li′s D*& F* significantly deviated from 0), suggesting overall conservation. The allele frequencies of Duffy blood group in the Henan Hui population was similar to that of the Xinjiang Hui, Xinjiang Kazakh, Inner Mongolia Mongolian, and Yuncheng Han populations, but significantly different from those of most Han and other ethnic groups ( P<0.05). Conclusion:This study revealed the characteristics of the Duffy blood group gene among the Henan Hui population and demonstrated the significant advantages of PacBio long-read sequencing technique in haplotype analysis, genetic diversity study, and novel mutation identification.

Objective:To compare the clinical efficacy of navigation system and orthopedic robot-assisted nail placement in the treatment of lower cervical fracture and dislocation.Methods:A retrospective cohort study was conducted to analyze the clinical data of 49 patients with fracture and dislocation of the lower cervical spine who were admitted to Honghui Hospital, Xi′an Jiaotong University School of Medicine from May 2021 to October 2022, including 38 males and 11 females, aged 29-61 years [(39.3±7.3)years]. Injury segments involved C 3 in 12 patients, C 4 in 11, C 5 in 8, C 6 in 9 and C 7 in 9. Twenty-one patients were treated with S8 navigation system (navigation group, 84 screws), and 28 with TINAVI orthopedic robot (robot group, 112 screws). The two groups were compared in terms of the total surgical duration, single screw placement time, total screw placement time, distance between the screw and the anterior cortex, incision length, intraoperative radiation dose, intraoperative blood loss and length of hospital stay. The height of intervertebral space, Cobb angle, sliding distance between vertebral bodies and American Spinal Injury Association (ASIA) grade were assessed before surgery and at 3 days after surgery. Visual analogue scale (VAS), Japanese Orthopedic Association (JOA) score and neck dysfunction index (NDI) before surgery, at 3 days, 3 months after surgery and at the last follow-up were compared. The accuracy of screw placement, intraoperative invasion rate of adjacent facet joints and rate of postoperative complications (infection, screw loosening, etc.) were evaluated. Results:All the patients were followed up for 12-16 months [(13.6±1.9)months]. In the navigation group, the total surgical duration, distance from the screw to the anterior cortex and the intraoperative radiation dose were (236.2±30.6)minutes, (2.0±0.2)mm and (374.3±90.3)mGy respectively, which were significantly shorter or less than those in the robot group [(278.4±20.7)minutes, (10.6±2.9)mm and (448.4±77.9)mGy] ( P<0.01). The single screw placement time, total screw placement time, incision length and intraoperative blood loss were (3.5±0.4)minutes, (23.9±0.5)minutes, (9.1±2.4)cm and (422.2±30.4)ml respectively, which were significantly longer or more than those in the robot group [(2.6±0.2)minutes, (17.9±0.7)minutes, (6.6±2.6)cm and (360.3±56.3)ml] ( P<0.01). There was no significant difference in the length of hospital stay between the two groups ( P>0.05). No significant differences were observed in the height of the intervertebral space, Cobb angle, sliding distance between the vertebral bodies and ASIA grade between the two groups ( P>0.05). At 3 days after surgery, the height of intervertebral space, Cobb angle, sliding distance between vertebral bodies and ASIA grade in both groups were significantly improved when compared with those before surgery ( P<0.05 or 0.01). There were no significant differences in VAS, JOA scores or NDI between the two groups before surgery, at 3 days, 3 months after surgery and at the last follow-up ( P>0.05). The VAS, JOA scores and NDI in both groups were gradually improved at 3 days, 3 months and at the last follow-up after surgery when compared with those before surgery ( P<0.05). There was no significant difference in the accuracy of screw placement of levels 0 and 0+1 between the two groups ( P>0.05). No significant difference in the intraoperative invasion rate of adjacent facet joints between the two groups was found ( P>0.05). There were no serious complications such as infection or screw loosening after surgery in both groups. Conclusions:For lower cervical fracture and dislocation, although there are more advantages in total surgical duration, screw holding force and radiation control regarding the navigation system, and more outstanding performance in screw placement efficiency, incision length and intraoperative blood loss regarding the orthopedic robot, both of them can effectively rebuild the cervical structure, improve neurological function, relieve postoperative pain, improve screw placement accuracy and reduce facet joint injury and serious complications. Selection of the best auxiliary screw placement system should comprehensively consider patients′ conditions and the experience of the surgical team.

OBJECTIVE: To analyze the diversity of Duffy blood group gene among ethnic Hui population from Henan Province using PacBio long-read sequencing technique. METHODS: Randomly select 30 individuals with three generations of Hui ancestry from Henan as the study subjects. Full-length sequences of the Duffy blood group gene were obtained through PacBio long-read sequencing. Distribution of the predicted phenotype and genotype frequency were determined, and the linkage between Duffy haplotypes and variation sites was analyzed. Genetic diversity, natural selection pressure, and population genetic characteristics were evaluated. This study was approved by the Second Affiliated Hospital of Zhengzhou University (Ethics No. 2022223). RESULTS: The predicted Duffy blood group phenotype in the Henan Hui population was predominantly Fy(a+b-). Three novel SNPs in the FY*01 allele were identified, with a total frequency of 13.33%, among which FY*01.NEW1 (c.199C>T) was the most common. A total of 32 variant sites were identified, with 28 located in intronic regions, indicating that genetic diversity was primarily concentrated in introns. The Duffy blood group gene was under negative selection pressure (dN/dS < 1, Tajima's D, Fu and Li's D* and F* significantly deviated from 0), suggesting overall conservation. The allele frequencies of Duffy blood group in the Henan Hui population was similar to that of the Xinjiang Hui, Xinjiang Kazakh, Inner Mongolia Mongolian, and Yuncheng Han populations, but significantly different from those of most Han and other ethnic groups (P < 0.05). CONCLUSION This study revealed the characteristics of the Duffy blood group gene among the Henan Hui population and demonstrated the significant advantages of PacBio long-read sequencing technique in haplotype analysis, genetic diversity study, and novel mutation identification.
Female ; Humans ; Male ; Asian People/ethnology* ; China/ethnology* ; Duffy Blood-Group System/genetics* ; Ethnicity/genetics* ; Gene Frequency ; Genetic Variation ; Haplotypes ; Polymorphism, Single Nucleotide

Objective:To analyze the diversity of Duffy blood group gene among ethnic Hui population from Henan Province using PacBio long-read sequencing technique.Methods:Randomly select 30 individuals with three generations of Hui ancestry from Henan as the study subjects. Full-length sequences of the Duffy blood group gene were obtained through PacBio long-read sequencing. Distribution of the predicted phenotype and genotype frequency were determined, and the linkage between Duffy haplotypes and variation sites was analyzed. Genetic diversity, natural selection pressure, and population genetic characteristics were evaluated. This study was approved by the Medical Ethics Committee of the Second Affiliated Hospital of Zhengzhou University (Ethics No. 202223).Results:The predicted Duffy blood group phenotype in the Henan Hui population was predominantly Fy(a+ b-). Three novel SNPs in the FY*01 allele were identified, with a total frequency of 13.33%, among which FY*01.NEW1 (c.199C>T) was the most common. A total of 32 variant sites were identified, with 28 located in intronic regions, indicating that genetic diversity was primarily concentrated in introns. The Duffy blood group gene was under negative selection pressure ( dN/ dS < 1, Tajima′s D, Fu and Li′s D*& F* significantly deviated from 0), suggesting overall conservation. The allele frequencies of Duffy blood group in the Henan Hui population was similar to that of the Xinjiang Hui, Xinjiang Kazakh, Inner Mongolia Mongolian, and Yuncheng Han populations, but significantly different from those of most Han and other ethnic groups ( P<0.05). Conclusion:This study revealed the characteristics of the Duffy blood group gene among the Henan Hui population and demonstrated the significant advantages of PacBio long-read sequencing technique in haplotype analysis, genetic diversity study, and novel mutation identification.

Objective:To compare the clinical efficacy of navigation system and orthopedic robot-assisted nail placement in the treatment of lower cervical fracture and dislocation.Methods:A retrospective cohort study was conducted to analyze the clinical data of 49 patients with fracture and dislocation of the lower cervical spine who were admitted to Honghui Hospital, Xi′an Jiaotong University School of Medicine from May 2021 to October 2022, including 38 males and 11 females, aged 29-61 years [(39.3±7.3)years]. Injury segments involved C 3 in 12 patients, C 4 in 11, C 5 in 8, C 6 in 9 and C 7 in 9. Twenty-one patients were treated with S8 navigation system (navigation group, 84 screws), and 28 with TINAVI orthopedic robot (robot group, 112 screws). The two groups were compared in terms of the total surgical duration, single screw placement time, total screw placement time, distance between the screw and the anterior cortex, incision length, intraoperative radiation dose, intraoperative blood loss and length of hospital stay. The height of intervertebral space, Cobb angle, sliding distance between vertebral bodies and American Spinal Injury Association (ASIA) grade were assessed before surgery and at 3 days after surgery. Visual analogue scale (VAS), Japanese Orthopedic Association (JOA) score and neck dysfunction index (NDI) before surgery, at 3 days, 3 months after surgery and at the last follow-up were compared. The accuracy of screw placement, intraoperative invasion rate of adjacent facet joints and rate of postoperative complications (infection, screw loosening, etc.) were evaluated. Results:All the patients were followed up for 12-16 months [(13.6±1.9)months]. In the navigation group, the total surgical duration, distance from the screw to the anterior cortex and the intraoperative radiation dose were (236.2±30.6)minutes, (2.0±0.2)mm and (374.3±90.3)mGy respectively, which were significantly shorter or less than those in the robot group [(278.4±20.7)minutes, (10.6±2.9)mm and (448.4±77.9)mGy] ( P<0.01). The single screw placement time, total screw placement time, incision length and intraoperative blood loss were (3.5±0.4)minutes, (23.9±0.5)minutes, (9.1±2.4)cm and (422.2±30.4)ml respectively, which were significantly longer or more than those in the robot group [(2.6±0.2)minutes, (17.9±0.7)minutes, (6.6±2.6)cm and (360.3±56.3)ml] ( P<0.01). There was no significant difference in the length of hospital stay between the two groups ( P>0.05). No significant differences were observed in the height of the intervertebral space, Cobb angle, sliding distance between the vertebral bodies and ASIA grade between the two groups ( P>0.05). At 3 days after surgery, the height of intervertebral space, Cobb angle, sliding distance between vertebral bodies and ASIA grade in both groups were significantly improved when compared with those before surgery ( P<0.05 or 0.01). There were no significant differences in VAS, JOA scores or NDI between the two groups before surgery, at 3 days, 3 months after surgery and at the last follow-up ( P>0.05). The VAS, JOA scores and NDI in both groups were gradually improved at 3 days, 3 months and at the last follow-up after surgery when compared with those before surgery ( P<0.05). There was no significant difference in the accuracy of screw placement of levels 0 and 0+1 between the two groups ( P>0.05). No significant difference in the intraoperative invasion rate of adjacent facet joints between the two groups was found ( P>0.05). There were no serious complications such as infection or screw loosening after surgery in both groups. Conclusions:For lower cervical fracture and dislocation, although there are more advantages in total surgical duration, screw holding force and radiation control regarding the navigation system, and more outstanding performance in screw placement efficiency, incision length and intraoperative blood loss regarding the orthopedic robot, both of them can effectively rebuild the cervical structure, improve neurological function, relieve postoperative pain, improve screw placement accuracy and reduce facet joint injury and serious complications. Selection of the best auxiliary screw placement system should comprehensively consider patients′ conditions and the experience of the surgical team.

Objective:According to the international cooperation project of Peking University Cancer Hospital on human genetic resource management practices, combined with the development direction of human genetic resource management laws and regulations, and propose reference suggestions for medical institutions to strengthen human genetic resource management.Methods:Sort out the projects that Peking University Cancer Hospital obtained international cooperation approval on the government platform of the Ministry of Science and Technology from July 2019 to June 2023, analyze the current situation of human genetic resource management in the hospital, summarize the challenges brought by the implementation of new regulations on human genetic resource management in medical institutions, and propose corresponding suggestions.Results:A total of 1276 international cooperation projects on human genetic resources have been approved, including 345 initial declarations and 931 change declarations. Involving 453 studies, including 286 clinical trials of drugs or devices on the market, accounting for 63.13%, and 100 clinical trials of Phase I drugs, accounting for 34.97% of the market studies. On average, there are 3.14 changes per project for listed research, and 1.56 changes per project for non listed research.Conclusions:Regulations on the Management of Human Genetic Resources ( short for Rules) limit the management scope of international cooperation projects involving human genetic resources and delegate management authority to medical institutions. Adjusting the scope of application for international cooperative clinical trial filing may result in some administrative approval projects being transferred to filing. The approval process for international cooperative scientific research projects on human genetic resources has been adjusted. Suggest medical institutions to strengthen the management of samples and intellectual property outside the scope of application of Rules.Strengthen the entire process management of international cooperation in scientific research. Pay attention to and timely communicate the dynamics of human genetic resource management.

Objective:To observe the effects of kidney-tonifying and mind-calming acupuncture therapy on sleep,mood,sex hormone levels,and traditional Chinese medicine(TCM)symptoms in patients with perimenopausal insomnia(PMI). Methods:A total of 90 patients with PMI were randomly divided into a treatment group and a control group,with 45 cases in each group.Patients in the treatment group were treated with acupuncture at Shenshu(BL23),Taixi(KI3),Baihui(GV20),and Anmian(Extra).The control group was treated with sham acupuncture.Both groups were treated 3 times a week for 4 weeks.Pittsburgh sleep quality index(PSQI)and insomnia severity index(ISI)were used to evaluate the sleep quality of the subjects before treatment,after treatment,and 1 month after treatment(follow-up).Beck depression inventory(BDI)and Beck anxiety inventory(BAI)were used to evaluate the depression and anxiety of the subjects before treatment,after treatment,and at 1-month follow-up.The TCM symptom scale was used to evaluate the TCM symptoms of the subjects before treatment,after treatment,and 1 month after treatment.Serum levels of estradiol(E2),follicle-stimulating hormone(FSH),and luteinizing hormone(LH)were measured before and after treatment. Results:During the study,2 cases dropped out of the treatment group,and no cases dropped out of the control group.The PSQI scores of the treatment group were significantly lower after treatment and at 1-month follow-up compared with those before treatment(P<0.05),and the difference was statistically significant compared with that of the control group(P<0.05).In the control group,the PSQI score was significantly lower after treatment compared with before treatment(P<0.05),and the difference was not statistically significant at 1-month follow-up compared with before treatment(P>0.05).Compared with the pre-treatment,the ISI,BDI,BAI,and TCM symptom scale scores of the treatment group were lower after treatment and at 1-month follow-up(P<0.05),and the differences with the control group at the same time point were statistically significant(P<0.05).The differences in ISI,BDI,BAI,and TCM symptom scale scores of the control group before treatment,after treatment,and at 1-month follow-up were not statistically significant(P>0.05).After treatment,the serum E2 level in the treatment group was significantly higher than that before treatment(P<0.05),and the difference with the control group was statistically significant(P<0.05).The difference in the serum E2 level before and after treatment in the control group was not statistically significant(P>0.05).The differences in the serum FSH and LH levels between before and after treatment were not statistically significant in either group of subjects(P>0.05). Conclusion:Kidney-tonifying and mind-calming acupuncture therapy can improve sleep quality,relieve anxiety and depression,delay the decrease of serum E2 level,and improve related TCM symptoms in patients with PMI.

Objective:To evaluate the relationship between physical activity (PA) and postoperative delirium (POD) in elderly patients undergoing knee or hip arthroplasty.Methods:The study was conducted as part of the Perioperative Neurocognitive Impairment and Biomarkers Lifestyle Cohort, which was a nested case-control study. Medical records from elderly patients undergoing elective knee or hip arthroplasty under spinal-epidural anesthesia at Qingdao Municipal Hospital from August 2022 to August 2023 were collected. The patients were divided into a POD group ( n=89) and a non-POD group ( n=221) based on the occurrence of POD. Peripheral blood samples were collected before surgery, and the cerebrospinal fluid (CSF) 2 ml was extracted after successful puncture under spinal-epidural anesthesia for determination of the concentrations of amyloid-β 42 (Aβ 42), total tau protein (t-tau), and phosphorylated tau protein (p-tau) by enzyme-linked immunosorbent assay. Logistic regression was used to analyze the influencing factors of POD, and the mediation analysis was conducted to examine the mediating role of CSF biomarker in the relationship between PA and POD. Results:Logistic regression analysis showed that the increased concentration of CSF biomarkers Aβ 42 ( OR=0.997, P=0.006), elevated ratio of Aβ 42/t-tau ( OR=0.642, P=0.003), elevated ratio of Aβ 42/p-tau ratio ( OR=0.872, P=0.001) and PA ( OR=0.374, P=0.001) were protective factors for POD, while the elevated concentrations of t-tau ( OR=1.006, P=0.001) and p-tau ( OR=1.030, P=0.011) were risk factors for POD after adjusting for multi-confounders such as hypertension, diabetes, history of drinking, years of education and Mini-Mental State Examination score. The results of the mediation analysis showed that Aβ 42 (20%), t-tau (16%), Aβ 42/t-tau (23%) and Aβ 42/p-tau (28%) played mediating roles in the relationship between PA and POD. Conclusions:PA is a protective factor for POD in elderly patients undergoing knee or hip arthroplasty and CSF biomarkers may play a mediating role in the relationship between PA and POD.

Background:With the improvement of national health awareness and the popularization of a series of screening methods,the number of early colorectal cancer is gradually increasing,accurate prediction of lymph node metastasis of T1 colorectal cancer is the key to determine the optimal therapeutic solutions.Aims:To investigate the relationship between preoperative inflammatory markers,fibrinogen,apolipoprotein B and lymph node metastasis in patients with early colorectal cancer.Methods:The clinical data of 102 patients with early colorectal cancer who received surgical treatment in the Department of General Surgery,Affiliated Hospital of Jiangsu University from January 2014 to December 2022 were retrospectively analyzed.The patients were divided into positive lymph node group and negative lymph node group according to postoperative pathological results.Univariate and multivariate Logistic regression analysis were employed to explore the correlation between lymph node metastasis and clinical test parameters in early colorectal cancer.Results:A total of 102 patients in T1 colorectal cancer were enrolled in this study,including 53 males and 49 females,and the mean age was(64±10)years.Postoperative pathological diagnosis of lymph node metastasis was 13 cases and no lymph node metastasis was 89 cases.The univariate analysis showed that age,fibrinogen and apolipoprotein B-monocyte ratio(AMR)were related to lymph node metastasis in early colorectal cancer(P<0.05).The multivariate Logistic regression analysis showed that age,fibrinogen and AMR were independent predictors of lymph node metastasis.Conclusions:The age,fibrinogen and AMR may play an important role in predicting lymph node metastasis in early colorectal cancer.They can be combined with pathological factors to further create a new prediction model,so as to provide some reference for patients in colorectal cancer to choose the therapeutic regimen.

Objective:To compare the clinical efficacies of O-arm combined with CT three-dimensional navigation system assisted screw placement versus manual screw placement in treating lower cervical fracture and dislocation.Methods:A retrospective cohort study was used to analyze the clinical data of 41 patients with lower cervical fracture and dislocation, who were treated in Honghui Hospital, Xi′an Jiaotong University from May 2021 to February 2022. The patients included 26 males and 15 females, aged 31.5-48.6 years [(41.5±15.0)years]. The injured segments were C 3 in 3 patients, C 4 in 12, C 5 in 13, C 6 in 10 and C 7 in 3. Nineteen patients were treated with cervical pedicle screws by O-shaped arm combined with CT three-dimensional navigation system (navigation group, 76 screws) and 22 by bare hands (traditional group, 88 screws). The total operation time, effective operation time, single nail placement time, single screw correction times, screw distance from anterior cortex, intraoperative blood loss, intraoperative fluoroscopic radiation dose, incision length and length of hospital stay were compared between the two groups, and the height of intervertebral space, Cobb angle, interbody slip distance and American Spinal injury Association (ASIA) grade were compared before operation and at 3 days after operation. Visual analogue score (VAS), Japanese Orthopedic Association (JOA) score, and neck dysfunction index (NDI) were evaluated before operation, at 3 days, 3 months after operation and at the last follow-up. Accuracy of screw placement and incidence of complications (adjacent facet joint invasion, infection, screw loosening) were detected as well. Results:All the patients were followed up for 11.1-13.9 months [(12.5±1.4)months]. The total operation time, intraoperative blood loss, intraoperative fluoroscopic radiation dose and incision length in the navigation group were more or longer than those in the traditional group (all P<0.05). The effective operation time, single nail placement time, single nail correction times and screw distance from anterior cortex in the navigation group were markedly less or smaller than those in the traditional group (all P<0.05). There was no significant difference in the length of hospital stay between the two groups ( P>0.05). There were significant improvements in the height of intervertebral space, Cobb angle and interbody slip distance between the two groups at 3 days after operation (all P<0.05). There was no significant difference in the height of intervertebral space, Cobb angle, interbody slip distance or ASIA grade between the two groups before operation or at 3 days after operation (all P>0.05). Compared with pre-operation, the VAS, JOA score and NDI were significantly improved in both groups at 3 days, 3 months after operation and at the last follow-up (all P<0.05), with further improvement with time. There was no significant difference in VAS between the two groups before operation or at 3 months after operation (all P>0.05), but it was markedly lower in the navigation group compared with the traditional group at 3 days after operation and at the last follow-up (all P<0.05). There were no significant differences in JOA score or NDI between the two groups before operation or at 3 days and 3 months after operation (all P>0.05), but both were lower in the navigation group compared with the traditional group at the last follow-up (all P<0.05). The accuracies of placement of grade 0 and grade 0+1 screws were 92.0% (70/76) and 96.6% (73/76) in the navigation group, respectively, which were markedly higher than 88.7% (78/88) and 93.5% (82/88) in the traditional group (all P<0.05). The rates of adjacent facet joint invasion of A, B, and C degrees were 71.2% (54/76), 28.8% (22/76) and 0% (0/76) in the navigation group, respectively, while the invasion rates were 60.5% (53/88), 32.3% (28/88) and 7.3% (7/88) in the traditional group ( P<0.05). No screw loosening was noted in the navigation group, but the screw loosening rate was 9.1% (8/88) in the traditional group ( P<0.01). Conclusion:Compared with manual screw placement, O-arm combined with CT three-dimensional navigation system assisted screw placement for lower cervical fracture and dislocation has the advantages of shorter effective operation time, quicker screw placement, stronger screw holding force, better cervical stability, slighter postoperative pain, higher screw placement accuracy, and lower facet joint invasion and screw loosening rates.