1.A machine learning-based trajectory predictive modeling method for manual acupuncture manipulation.
Jian KANG ; Li LI ; Shu WANG ; Xiaonong FAN ; Jie CHEN ; Jinniu LI ; Wenqi ZHANG ; Yuhe WEI ; Ziyi CHEN ; Jingqi YANG ; Jingwen YANG ; Chong SU
Chinese Acupuncture & Moxibustion 2025;45(9):1221-1232
OBJECTIVE:
To propose a machine learning-based method for predicting the trajectories during manual acupuncture manipulation (MAM), aiming to improve the precision and consistency of acupuncture practitioner' operation and provide the real-time suggestions on MAM error correction.
METHODS:
Computer vision technology was used to analyze the hand micromotion when holding needle during acupuncture, and provide a three-dimensional coordinate description method of the index finger joints of the holding hand. Focusing on the 4 typical motions of MAM, a machine learning-based MAM trajectory predictive model was designed. By integrating the changes of phalangeal joint angle and hand skeletal information of acupuncture practitioner, the motion trajectory of the index finger joint was predicted accurately. Besides, the roles of machine learning-based MAM trajectory predictive model in the skill transmission of acupuncture manipulation were verified by stratified randomized controlled trial.
RESULTS:
The performance of MAM trajectory predictive model, based on the long short-term memory network (LSTM), obtained the highest stability and precision, up to 98%. The learning effect was improved when the model applied to the skill transmission of acupuncture manipulation.
CONCLUSION
The machine learning-based MAM predictive model provides acupuncture practitioner with precise action prediction and feedback. It is valuable and significant for the inheritance and error correction of manual operation of acupuncture.
Humans
;
Acupuncture Therapy/instrumentation*
;
Machine Learning
;
Adult
;
Male
;
Female
2.An interpretable machine learning modeling method for the effect of manual acupuncture manipulations on subcutaneous muscle tissue.
Wenqi ZHANG ; Yanan ZHANG ; Yan SHEN ; Chun SUN ; Jie CHEN ; Yuhe WEI ; Jian KANG ; Ziyi CHEN ; Jingqi YANG ; Jingwen YANG ; Chong SU
Chinese Acupuncture & Moxibustion 2025;45(10):1371-1382
OBJECTIVE:
To investigate the effect of manual acupuncture manipulations (MAMs) on subcutaneous muscle tissue, by developing quantitative models of "lifting and thrusting" and "twisting and rotating", based on machine learning techniques.
METHODS:
A depth camera was used to capture the acupuncture operator's hand movements during "lifting and thrusting" and "twisting and rotating" of needle. Simultaneously, the ultrasound imaging was employed to record the muscle tissue responses of the participants. Amplitude and angular features were extracted from the movement data of operators, and muscle fascicle slope features were derived from the data of ultrasound images. The dynamic time warping barycenter averaging algorithm was adopted to align the dual-source data. Various machine learning techniques were applied to build quantitative models, and the performance of each model was compared. The most optimal model was further analyzed for its interpretability.
RESULTS:
Among the quantitative models built for the two types of MAMs, the random forest model demonstrated the best performance. For the quantitative model of the "lifting and thrusting" technique, the coefficient of determination (R2) was 0.825. For the "twisting and rotating" technique, R2 reached 0.872.
CONCLUSION
Machine learning can be used to effectively develop the models and quantify the effects of MAMs on subcutaneous muscle tissue. It provides a new perspective to understand the mechanism of acupuncture therapy and lays a foundation for optimizing acupuncture technology and designing personalized treatment regimen in the future.
Humans
;
Acupuncture Therapy/methods*
;
Machine Learning
;
Male
;
Adult
;
Female
;
Subcutaneous Tissue/diagnostic imaging*
;
Young Adult
3.Impact of six lipid parameters on cognitive impairment in the elderly Chinese population: a prospective cohort study
Yanzhi YAN ; Keyong HUANG ; Yanyan ZHANG ; Yijin PEI ; Fangchao LIU ; Shufeng CHEN ; Jianxin LI ; Jie CAO ; Chong SHEN ; Jianfeng HUANG ; Dongsheng HU ; Dongfeng GU ; Xiangfeng LU
Chinese Journal of Preventive Medicine 2025;59(7):1069-1077
Objective:To investigate the relationship between lipid levels and cognitive impairment in the elderly Chinese population using prospective cohort data.Methods:Based on the China-PAR (Prediction for Atherosclerotic Cardiovascular Disease Risk in China) cohort, this study included 24 380 individuals aged ≥60 years who participated in the cognitive function follow-up survey from 2018 to 2019. Cognitive function was assessed using the Mini-Mental State Examination (MMSE), with cognitive impairment defined according to different educational levels: MMSE ≤17 for illiterate individuals, MMSE ≤20 for those with primary education and MMSE ≤24 for those with secondary education or above. Multivariable linear regression and logistic regression models were employed to examine the associations between six baseline lipid indicators and cognitive scores, as well as cognitive impairment. Additionally, restricted cubic splines were used to explore the exposure-dose relationship between lipid levels and cognitive function.Results:The study population had a median follow-up time of 11.6 years, with a baseline age of (59.7±6.8) years. Among the participants, 9 510 (39.0%) were males, and the mean MMSE score was 24.7±6.8. A total of 3 887 individuals (15.9%) were identified as cognitively impaired. The results of multivariable linear regression and logistic regression indicated that total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and non-high-density lipoprotein cholesterol (non-HDL-C) levels were not only significantly positively associated with cognitive scores but also significantly associated with a lower risk of cognitive impairment. Each 1 mmol/L increase in these lipid levels corresponded to β values (95% CI) of 0.267 (0.173-0.361), 0.385(0.271-0.499) and 0.331(0.231-0.431), respectively. Each 1 mmol/L increase in these lipid levels corresponded to odds ratio ( OR) (95% CI) values of 0.915 (0.876-0.956), 0.875 (0.830-0.923) and 0.886 (0.848-0.927), respectively. The dose-response curve demonstrated that the negative association was primarily observed within the guideline-recommended optimal lipid level range. Specifically, when LDL-C was less than 3.4 mmol/L and non-HDL-C was less than 4.1 mmol/L, the corresponding OR (95% CI) values were 0.859 (0.796-0.926) and 0.876 (0.818-0.939). Conclusion:Lipid levels exhibit a certain linear negative association with cognitive impairment in elderly Chinese adults, with LDL-C and non-HDL-C demonstrating a stronger effect, particularly within the guideline-recommended optimal range.
4.Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province
Xinyun ZHU ; Dehua ZHAO ; Yizhuo XU ; Jie ZHANG ; Xiaole LI ; Suna LIU ; Min NI ; Yihui REN ; Chong ZHANG ; Yaqing GUO ; Junqi LI ; Shubo LYU ; Chenlu JIA ; Ying SHI
Chinese Journal of Medical Genetics 2025;42(6):641-647
Objective:To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province.Methods:A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Approval Number: 2019 Medical Ethics Review No. 67). Results:Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c. 1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c. 467G>A (p.Gly156Asp) and c. 1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c. 1297G>C (p.Ala433Pro) and c. 1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and may affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. Conclusion:The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c. 1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.
5.Diffusion-weighted imaging features of patent foramen ovale-related cryptogenic stroke and correlation of infarct size with cardiac CT characteristics
Shuang ZHANG ; Chong ZHENG ; Rui QIN ; Wenlei GENG ; Lijie SUN ; Jing LI ; Jie LU
Chinese Journal of Cerebrovascular Diseases 2025;22(7):465-473
Objective To characterize the features of patent foramen ovale(PFO)-related cryptogenic stroke using diffusion-weighted imaging(DWI)and to investigate the correlation between infarct size and cardiac CT characteristics of PFO.Methods A retrospective,consecutive cohort study was conducted on acute ischemic stroke patients admitted to Neurology Department of Xuanwu Hospital,Capital Medical University from January 2022 to September 2024.Patients were categorized into PFO group,arterio-arterial embolism(AAE)group,and atrial fibrillation(AF)group based on etiological diagnosis.Baseline clinical data,including age,height,body mass index,admission National Institutes of Health stroke scale(NIHSS)score,history of old cerebral infarction,hypertension,diabetes mellitus,coronary heart disease,dyslipidemia,and smoking history were collected and compared.All patients underwent head MR within 24 h of admission.DWI was used to analyze and compare infarct characteristics across the three groups,including lesion number(single or multiple),location(cortical+subcortical,deep white matter,cortical+subcortical+deep white matter,cerebellum+thalamus+brainstem),size(≥15 mm or<15 mm,based on maximum transverse diameter;for multiple lesions,if any lesion had a maximum diameter≥15 mm,it was categorized as≥15 mm),infarcted vascular territory(anterior,posterior,or both circulations),and specific arterial supply(anterior cerebral artery,middle cerebral artery,posterior cerebral artery,basilar artery,posterior inferior cerebellar artery,superior cerebellar artery,anterior choroidal artery,or multiple arteries).Patients in the PFO group additionally underwent cardiac CT to measure PFO-related parameters:tunnel length,width,height,septum secundum thickness,and fossa ovalis length.Spearman correlation analysis was performed to evaluate the relationship between infarct size and PFO cardiac CT features.Results A total of 232 acute ischemic stroke patients were included(mean age[57±17]years,ranged 19-86 years;141 males,91 females),comprising 116 in the PFO group,36 in the AAE group,and 80 in the AF group.(1)The proportion of males in the PFO group was higher than that in the AF group,it was lower than that in the AAE group.The age,body mass index and proportions of patients with hypertension,diabetes,hyperlipidemia,coronary heart disease were all lower than those in the other two groups(both P<0.016 7),while other baseline characteristics showed no significant differences(all P>0.05).(2)The PFO group exhibited a higher proportion of multiple infarcts compared to the AAE group(83.62%[97/116]vs.61.11%[22/36],P<0.016 7),but a lower proportion than the AF group(83.62%[97/116]vs.98.75%[79/80],P<0.016 7).The PFO group also showed a significantly higher proportion of cortical+subcortical infarcts(47.41%[55/116]vs.11.11%[4/36]and 6.25%[5/80],respectively,both P<0.016 7)and infarcts with a maximum diameter<15 mm compared to both AAE and AF groups(66.38%[77/116]vs.36.11%[13/36]and 11.25%[9/80],respectively,both P<0.016 7).Furthermore,the PFO group had a lower proportion of anterior circulation infarcts(27.59%[32/116]vs.69.44%[25/36]in AAE group and 67.50%[54/80]in AF group,both P<0.016 7),but a higher proportion of posterior circulation infarcts(62.07%[72/116]vs.16.67%[6/36]in AAE group and 8.75%[7/80]in AF group,both P<0.016 7).Specifically,middle cerebral artery infarcts were less common in the PFO group(18.97%[22/116]vs.66.67%[24/36]in AAE group and 52.50%[42/80]in AF group,both P<0.016 7),while posterior cerebral artery infarcts were more common(48.28%[56/116]vs.8.33%[3/36]in AAE group and 8.75%[7/80]in AF group,both P<0.016 7).(3)Spearman correlation analysis revealed that infarct size was negatively correlated with PFO tunnel length(rs=-0.429,P=0.029),fossa ovalis length(rs=-0.408,P=0.038),and septum secundum thickness(rs=-0.525,P=0.006),but not correlated with PFO width or height(both P>0.05).Conclusions PFO-related cryptogenic stroke is predominantly characterized by multiple small infarcts,primarily located in the cortical+subcortical regions and posterior circulation.Infarct size was found to be negatively correlated with PFO tunnel length,fossa ovalis length,and septum secundum thickness.Comprehensive assessment integrating DWI and cardiac CT features may facilitate the identification of PFO-related stroke.These findings warrant further validation through larger,prospective studies.
6.Diffusion-weighted imaging features of patent foramen ovale-related cryptogenic stroke and correlation of infarct size with cardiac CT characteristics
Shuang ZHANG ; Chong ZHENG ; Rui QIN ; Wenlei GENG ; Lijie SUN ; Jing LI ; Jie LU
Chinese Journal of Cerebrovascular Diseases 2025;22(7):465-473
Objective To characterize the features of patent foramen ovale(PFO)-related cryptogenic stroke using diffusion-weighted imaging(DWI)and to investigate the correlation between infarct size and cardiac CT characteristics of PFO.Methods A retrospective,consecutive cohort study was conducted on acute ischemic stroke patients admitted to Neurology Department of Xuanwu Hospital,Capital Medical University from January 2022 to September 2024.Patients were categorized into PFO group,arterio-arterial embolism(AAE)group,and atrial fibrillation(AF)group based on etiological diagnosis.Baseline clinical data,including age,height,body mass index,admission National Institutes of Health stroke scale(NIHSS)score,history of old cerebral infarction,hypertension,diabetes mellitus,coronary heart disease,dyslipidemia,and smoking history were collected and compared.All patients underwent head MR within 24 h of admission.DWI was used to analyze and compare infarct characteristics across the three groups,including lesion number(single or multiple),location(cortical+subcortical,deep white matter,cortical+subcortical+deep white matter,cerebellum+thalamus+brainstem),size(≥15 mm or<15 mm,based on maximum transverse diameter;for multiple lesions,if any lesion had a maximum diameter≥15 mm,it was categorized as≥15 mm),infarcted vascular territory(anterior,posterior,or both circulations),and specific arterial supply(anterior cerebral artery,middle cerebral artery,posterior cerebral artery,basilar artery,posterior inferior cerebellar artery,superior cerebellar artery,anterior choroidal artery,or multiple arteries).Patients in the PFO group additionally underwent cardiac CT to measure PFO-related parameters:tunnel length,width,height,septum secundum thickness,and fossa ovalis length.Spearman correlation analysis was performed to evaluate the relationship between infarct size and PFO cardiac CT features.Results A total of 232 acute ischemic stroke patients were included(mean age[57±17]years,ranged 19-86 years;141 males,91 females),comprising 116 in the PFO group,36 in the AAE group,and 80 in the AF group.(1)The proportion of males in the PFO group was higher than that in the AF group,it was lower than that in the AAE group.The age,body mass index and proportions of patients with hypertension,diabetes,hyperlipidemia,coronary heart disease were all lower than those in the other two groups(both P<0.016 7),while other baseline characteristics showed no significant differences(all P>0.05).(2)The PFO group exhibited a higher proportion of multiple infarcts compared to the AAE group(83.62%[97/116]vs.61.11%[22/36],P<0.016 7),but a lower proportion than the AF group(83.62%[97/116]vs.98.75%[79/80],P<0.016 7).The PFO group also showed a significantly higher proportion of cortical+subcortical infarcts(47.41%[55/116]vs.11.11%[4/36]and 6.25%[5/80],respectively,both P<0.016 7)and infarcts with a maximum diameter<15 mm compared to both AAE and AF groups(66.38%[77/116]vs.36.11%[13/36]and 11.25%[9/80],respectively,both P<0.016 7).Furthermore,the PFO group had a lower proportion of anterior circulation infarcts(27.59%[32/116]vs.69.44%[25/36]in AAE group and 67.50%[54/80]in AF group,both P<0.016 7),but a higher proportion of posterior circulation infarcts(62.07%[72/116]vs.16.67%[6/36]in AAE group and 8.75%[7/80]in AF group,both P<0.016 7).Specifically,middle cerebral artery infarcts were less common in the PFO group(18.97%[22/116]vs.66.67%[24/36]in AAE group and 52.50%[42/80]in AF group,both P<0.016 7),while posterior cerebral artery infarcts were more common(48.28%[56/116]vs.8.33%[3/36]in AAE group and 8.75%[7/80]in AF group,both P<0.016 7).(3)Spearman correlation analysis revealed that infarct size was negatively correlated with PFO tunnel length(rs=-0.429,P=0.029),fossa ovalis length(rs=-0.408,P=0.038),and septum secundum thickness(rs=-0.525,P=0.006),but not correlated with PFO width or height(both P>0.05).Conclusions PFO-related cryptogenic stroke is predominantly characterized by multiple small infarcts,primarily located in the cortical+subcortical regions and posterior circulation.Infarct size was found to be negatively correlated with PFO tunnel length,fossa ovalis length,and septum secundum thickness.Comprehensive assessment integrating DWI and cardiac CT features may facilitate the identification of PFO-related stroke.These findings warrant further validation through larger,prospective studies.
7.Establishment and validation of an autoverification system for coagulation tests stratified by outpatient and inpatient settings
Weitao ZHANG ; Huayang ZHANG ; Jie ZHU ; Chong WANG ; Meixiu GU ; Baishen PAN ; Beili WANG ; Wei GUO
Chinese Journal of Clinical Laboratory Science 2025;43(11):845-850
Objective To establish autoverification rules for six routine coagulation assays(PT,APTT,TT,Fib,DD,and FDP)based on the stratification of outpatients and inpatients,in accordance with CLSI AUTO-10A,AUTO-15,and WS/T 616-2018 guide-lines,and to validate the feasibility of this stratified strategy with clinical data while optimizing verification efficiency.Methods A to-tal of 323 451 coagulation test results from Zhongshan Hospital,Fudan University in 2022 were retrospectively analyzed to define auto-verification rules involving critical values,instrument flags,logical rules,historical comparison,and numerical ranges.A stratified au-toverification system was established by applying distinct rules for outpatient and inpatient populations.Subsequently,the rules were op-timized using 87 830 coagulation test results from January to March 2024,and the consistency between autoverification and manual veri-fication was prospectively evaluated using 33 968 consecutive coagulation specimens collected in April 2024.Results A stratified au-toverification system was successfully developed,comprising a total of 53 rules.The pass rate of overall verification was 77.16%(26 210/33 968),with a true-positive rate of 19.64%(6 672/33 968),a false-positive rate of 3.20%(1 086/33 968),a true-nega-tive rate of 77.16%(26 210/33 968),and no false negatives were detected.Conclusion The proposed autoverification system signifi-cantly improved verification efficiency.The stratified design based on outpatient and inpatient populations effectively minimized the risk of false negatives,and may provide a novel approach for the further development and optimization of coagulation test autoverification.
8.Risk Factors and Predictive Model Establishment of Postoperative Acute LungInjury in Stanford Type A Aortic Dissection Surgery
Sheng-qiang ZHANG ; Shao-feng YANG ; Chong-wen SHEN ; Chao CAI ; Wen-jie DIAO ; Ge LIU ; Chao SHI
Progress in Modern Biomedicine 2025;25(17):2797-2804
Objective:Analyze the risk factors for acute lung injury of postoperative acute lung injury(ALI)in patients with Stanford type A aortic dissection(STAAD),and construct a nomogram predictive model.Methods:A retrospective cohort study design was adopted.A total of 112 patients with STAAD who underwent surgical treatment in our hopital from January 2021 to August 2024 were included.They were divided into two groups according to the occurrence of ALI after the surgical:non-ALI group(73 cases)and ALI group(39 cases).Clinical data were collected from both groups of patients.The influencing factors of postoperative ALI in patients with STAAD were analyzed by multivariate logistic regression.Established nomogram prediction model based on influencing factors and validated.Results:Among 112 patients with STAAD who underwent surgical treatment,39 case postoperative ALI occurred,with an incidence rate of 34.82%.Age,preoperative creatinine,body mass index(BMI),preoperative white blood cell count,preoperative lactate and other aspects compared,The difference were statistically significant(P<0.05).The length of stay in the intensive care unit(ICU)of the ALI group was longer than that of the non ALI group(P<0.05).The intraoperative red blood cell transfusion volume and extracorporeal circulation time in the ALI group were higher than those in the non ALI group(P<0.05).Long intraoperative cardiopulmonary bypass time,high BMI,high intraoperative red blood cell transfusion volume and high preoperative white blood cell count were risk factors for postoperative ALI(P<0.05).The receiver operating characteristic(ROC)curve analysis results show that,the Area under the curve(AUC)of the nomogram prediction model was 0.871.When the optimal critical value was 0.472,its sensitivity and specificity wew 0.887 and 0.776,respectively.The internal validation results of Bootstrap show that,the C-index of the column chart prediction model was 0.862,with an absolute error of 0.032.The calibration curve is close to the ideal curve and the original curve,with a slope close to 1.Conclusions:Long intraoperative cardiopulmonary bypass time,high BMI,high intraoperative red blood cell transfusion volume and high preoperative white blood cell count are independent risk factors for postoperative ALI in patients with STAAD.The nomogram model constructed based on the above risk factors can effectively evaluate the risk of postoperative ALI in patients with STAAD.
9.Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province.
Xinyun ZHU ; Dehua ZHAO ; Yizhuo XU ; Jie ZHANG ; Xiaole LI ; Suna LIU ; Min NI ; Yihui REN ; Chong ZHANG ; Yaqing GUO ; Junqi LI ; Shubo LYU ; Chenlu JIA ; Ying SHI
Chinese Journal of Medical Genetics 2025;42(6):641-647
OBJECTIVE:
To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province.
METHODS:
A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Ethics Number: 2019 Medical Ethics Review No. 67).
RESULTS:
Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c.1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c.467G>A (p.Gly156Asp) and c.1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c.1297G>C (p.Ala433Pro) and c.1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms.
CONCLUSION
The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c.1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.
Humans
;
Amino Acid Metabolism, Inborn Errors/epidemiology*
;
Glutaryl-CoA Dehydrogenase/chemistry*
;
Infant, Newborn
;
Female
;
Neonatal Screening/methods*
;
Male
;
Brain Diseases, Metabolic/epidemiology*
;
China/epidemiology*
;
Retrospective Studies
;
Mutation
;
Genetic Variation
;
Glutarates
10.The value of spectral CT in guiding percutaneous transthoracic needle biopsy
Jinhui YAO ; Jie SUN ; Jin DU ; Xuetao ZHANG ; Xin LI ; Haixia LIU ; Chong LEI
Journal of Practical Radiology 2025;41(5):845-848
Objective To explore the applicative value of spectral CT in increasing positive rates of lung cancer puncture and reducing complications during CT guided percutaneous transthoracic needle biopsy(PTNB).Methods The pathological results and complica-tion incidences of 260 PTNB patients were analyzed retrospectively.All patients were divided into three groups:group A(conventional CT group,103 cases)used a scheme based on conventional enhanced CT;group B(PET/CT group,84 cases)used a scheme combining the maximum standardized uptake value(SUVmax)with conventional enhanced CT;group C(spectral CT group,73 cases)used a scheme of quantitative spectral CT parameters and images.Results Group A included 103 cases in total,of which 87 were positive(84.47%),41 pneumothorax(39.81%),and 31 hemorrhage(30.10%).Group B totaled 84 cases,including 82 positive cases(97.62%),19 cases of pneumothorax(22.62%),and 11 cases of hemorrhage(13.10%).Group C was of 73 cases,including 70 positive cases(95.89%),16 cases of pneumothorax(21.92%),and 10 cases of hemorrhage(13.70%).There were statistically significant differ-ences in biopsy positive rates,pneumothorax incidences,and hemorrhage incidences among groups A,B,and C(P<0.05).There were also statistically significant differences in biopsy positive rates,pneumothorax incidences,and hemorrhage incidences between groups A and B or groups A and C(P<0.016 7),respectively.However,no statistically significant differences were found between groups B and C in biopsy positive rates,pneumothorax incidences,and hemorrhage incidences(P>0.016 7).Conclusion Spectral CT can improve the positive rate of lung cancer and reduce the risk of pneumothorax and hemorrhage with PTNB.

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