ObjectiveTo enhance the genetic diagnostic yield for fetal short femur length （FL） and to evaluate the integration of whole exome sequencing （WES） with chromosomal abnormality detection in prenatal diagnosis. MethodsA total of 27 mid-to-late trimester fetuses diagnosed with short FL ［FL < 5th percentile for gestational age or < -2 SD （Standard Deviation）］ at the Prenatal Diagnosis And Medical Genetics Center，Shenshan Medical Center，Memorial Hospital of Sun Yat-Sen University between November 2023 and May 2025 were included. Amniotic fluid or umbilical cord blood samples were collected and subjected to chromosomal karyotyping （19cases）， chromosomal microarray analysis （CMA） or low-coverage whole genome copy number variation（CNV-Seq） （27 cases）， and trio-based whole exome sequencing （trio-WES） （27 cases）. The pathogenicity of genetic variants were interpreted according to the American College of Medical Genetics and Genomics （ACMG） guidelines. ResultsTwenty-six genomic variants were detected in 17 of the 26 fetuses， including numerical chromosomal abnormalities （mosaic type）， copy number variations （CNVs）， single nucleotide variants （SNVs） and insertions-deletions （INDELs）. Genomic variants detected in 11 cases could explain the short femur phenotype.The overall diagnostic rate was 11/27， with pathogenic/likely pathogenic variants explaining 9 cases and variants of uncertain significance （VUS） accounting for 1 cases. In addition Chromosomal karyotype analysis revealed chromosome mosaicism explaining 1 case. The diagnostic rate of CNV detection （CMA/CNV-seq） was 2/27， while WES achieved a diagnostic rate of 10/27， with an incremental yield of 8/27 in cases with negative or inconclusive CNV results. Pathogenic mutations involved genes such as FGFR3， SHOX， DUOX2， CLCN5， and HBA1/HBA2. ConclusionTrio-WES significantly improves the genetic diagnostic rate for fetal short femur length， particularly in cases where chromosomal analysis fails to identify a cause. Karyotyping remains valuable for detecting low-level mosaicism in large-scale chromosomal abnormalities， thereby complementing WES and CNV detection. A stepwise or parallel genetic testing strategy is recommended in prenatal diagnosis to optimize diagnostic efficiency and support clinical decision-making.

BACKGROUND:In most species,a bone defect that is longer than 1.5 or 2 times its diameter can be considered a critical bone defect,and when the bone defect volume reaches the critical value,it cannot heal on its own.Currently,there is no uniform standard for the size of critical-sized defects in the osteoporotic femoral condyle of rabbits.OBJECTIVE:To establish a rabbit model with different sizes of bone defects in the osteoporotic femoral condyle and to determine the critical-sized defects of osteoporotic femoral condyle in rabbits.METHODS:Thirty-six 3-month-old female New Zealand white rabbits were randomly divided into ovariectomy group(n=30)and sham operation group(n=6).Rabbits in the ovariectomy group underwent bilateral ovariectomy to establish an osteoporosis model,and then femoral condyle bone defect models of different diameters(diameters were 4,5,6,and 7 mm,and depths were 8 mm)were further established;rabbits in the sham operation group did not undergo ovariectomy.At 8 and 12 weeks after modeling,3 rats were randomly selected from each group for CT scanning and three-dimensional reconstruction to evaluate the healing of bone defects.Afterwards,samples were taken for gross observation and hematoxylin-eosin staining to observe the growth of new bone in the femoral condyle bone defect area.RESULTS AND CONCLUSION:(1)All rabbits survived and moved well after modeling of osteoporosis and femoral condyle bone defect.(2)At 12 weeks after osteoporosis modeling,dual-energy X-ray absorptiometry results showed that the bone mineral density of lumbar vertebrae in ovariectomy group was significantly lower than that in sham operation group(P＜0.05).Hematoxylin-eosin staining showed that the bone trabeculae in the ovariectomy group became thinner and sparse.The proportion of bone tissue area in the ovariectomy group was significantly lower than that in the sham operation group(P=0.00).Micro-CT results showed that the bone tissue parameters of the femoral condyle in the ovariectomy group were significantly different from those in the sham operation group(P＜0.05),and the ovariectomy group showed obvious characteristics of osteoporosis.(3)CT showed that the bone defect in the 4 mm and 5 mm diameter groups was basically completely repaired at 12 weeks after surgery.There was more new bone tissue in the 6 mm diameter group,but the central part of the bone defect was not completely repaired.A small amount of new bone tissue grew in the 7 mm diameter group,and the bone defect was obvious.(4)Gross observation at 12 weeks after surgery showed that the femoral condyle bone defect in the 4 mm and 5 mm diameter groups was completely repaired.Obvious depression was seen in the bone defect area of the 6 mm and 7 mm diameter groups,and the bone defect was not completely repaired.(5)Histological observation at 12 weeks after surgery showed that the bone defect area of the 4 mm and 5 mm diameter groups was completely filled with new bone,and the trabecular structure was irregular;while there were new trabeculae in the periphery of the 6 mm and 7 mm diameter groups,and the bone defect in the central area was still obvious.(6)The results showed that during the 12-week experimental observation period of osteoporotic femoral condyle defects in rabbits,under the condition of the same defect depth of 8 mm,femoral condyle defects with a diameter ≥ 6 mm could not heal on their own,while femoral condyle defects with a diameter＜6 mm were completely repaired.A diameter of 6 mm and a depth of 8 mm can be used as the critical bone defect value of osteoporotic femoral condyle in rabbits.

OBJECTIVES: To establish a three-dimensional (3D) visualization-based classification of the left hepatic portal vein (LHPV) and left hepatic vein (LHV) systems using 3D reconstruction technology to facilitate precise segmental/subsegmental resection of left liver lesions. METHODS: Thin-slice contrast-enhanced CT datasets from 244 patients were reconstructed using MI-3DV Works software. The spatial anatomy (origins, branching patterns, and spatial relationships) of the LHPV and LHV branches was analyzed to determine their 3D classifications and segmental liver divisions for guiding surgical planning for anatomical left liver resections. RESULTS: The 3D models of the third- and fourth-order branches of the LHPV and LHV were successfully reconstructed for all the 244 patients. Two types of the LHPV system were identified, where the LHPV either had independent origins [242 cases (99.1%)] or had right anterior portal branches arising from the LHPV trunk [2 cases (0.9%)]. 3D classifications identified two types of the Segment II of the LHPV (based on branch number), 3 types of the Segment III (by spatial distribution of the branches), compact vs dispersed types of the left lateral lobe (determined by Segment II/III branches proximity), 3 types of the Segment IV (by branch number and origin), and 3 types the fourth hilar vessels (transverse branches of the left portal vein) for their supplied segments. The LHV system had two drainage types into the inferior vena cava, and the umbilical fissure veins were classified into 3 types by drainage patterns and distance to the venous roots. These classifications combined with liver segmentations allowed individualized surgical planning for segment-specific resections. CONCLUSIONS The 3D classification of the LHPV and LHV provides valuable clinical guidance for precise anatomical resections of left liver lesions using liver segments or subsegments as anatomical units to enhance surgical accuracy and improve the outcomes of hepatobiliary surgery.
Humans ; Hepatectomy/methods* ; Imaging, Three-Dimensional ; Hepatic Veins/anatomy & histology* ; Portal Vein/anatomy & histology* ; Liver/surgery* ; Liver Neoplasms/blood supply* ; Tomography, X-Ray Computed ; Female

ObjectiveTo explore the effect of Yishen Tongluo prescription on sperm DNA fragmentation index （DFI） and sperm mitochondrial membrane potential （MMP） in patients with asymptomatic idiopathic asthenospermia infertility. MethodsA total of 128 patients with asymptomatic idiopathic asthenospermia were randomly assigned to an experimental group （64 cases） and a control group （64 cases）. The experimental group received Yishen Tongluo prescription， while the control group was treated with Wuzi Yanzongwan combined with L-carnitine oral solution. One treatment course lasted 12 weeks. Spouse pregnancy rate， sperm progressive motility （PR）， total sperm motility （PR+NP）， sperm function （sperm tail hypotonic swelling rate， sperm acrosin activity）， sperm DFI， and sperm MMP were compared between the two groups before and after treatment. Adverse reactions were observed and recorded during the study， and clinical efficacy and safety were systematically evaluated. ResultsA total of 121 patients completed the study， including 61 in the experimental group and 60 in the control group. The spouse pregnancy rate in the experimental group was 14.75% （9/61）， higher than that in the control group at 6.67% （4/60）， though the difference was not statistically significant. Clinical efficacy in the experimental group was superior to that in the control group （P<0.05）. Compared with the results before treatment， sperm PR， PR + NP， sperm tail hypotonic swelling rate， sperm acrosin activity， sperm DFI， and sperm MMP were significantly improved in both groups after treatment （P<0.05）， with greater improvements in the experimental group （P<0.05）. However， there was no significant change in sperm concentration in either group after treatment. During the study， no abnormal safety indicators or significant adverse reactions occurred in either group. ConclusionThe kidney-tonifying and collateral-dredging method shows good clinical efficacy in the treatment of asymptomatic idiopathic asthenospermia infertility. Yishen Tongluo prescription can improve sperm motility， increase spouse pregnancy rate， enhance sperm function， and demonstrates good safety. Its mechanism may be related to reducing sperm DFI and increasing sperm MMP.

BACKGROUND:In most species,a bone defect that is longer than 1.5 or 2 times its diameter can be considered a critical bone defect,and when the bone defect volume reaches the critical value,it cannot heal on its own.Currently,there is no uniform standard for the size of critical-sized defects in the osteoporotic femoral condyle of rabbits.OBJECTIVE:To establish a rabbit model with different sizes of bone defects in the osteoporotic femoral condyle and to determine the critical-sized defects of osteoporotic femoral condyle in rabbits.METHODS:Thirty-six 3-month-old female New Zealand white rabbits were randomly divided into ovariectomy group(n=30)and sham operation group(n=6).Rabbits in the ovariectomy group underwent bilateral ovariectomy to establish an osteoporosis model,and then femoral condyle bone defect models of different diameters(diameters were 4,5,6,and 7 mm,and depths were 8 mm)were further established;rabbits in the sham operation group did not undergo ovariectomy.At 8 and 12 weeks after modeling,3 rats were randomly selected from each group for CT scanning and three-dimensional reconstruction to evaluate the healing of bone defects.Afterwards,samples were taken for gross observation and hematoxylin-eosin staining to observe the growth of new bone in the femoral condyle bone defect area.RESULTS AND CONCLUSION:(1)All rabbits survived and moved well after modeling of osteoporosis and femoral condyle bone defect.(2)At 12 weeks after osteoporosis modeling,dual-energy X-ray absorptiometry results showed that the bone mineral density of lumbar vertebrae in ovariectomy group was significantly lower than that in sham operation group(P＜0.05).Hematoxylin-eosin staining showed that the bone trabeculae in the ovariectomy group became thinner and sparse.The proportion of bone tissue area in the ovariectomy group was significantly lower than that in the sham operation group(P=0.00).Micro-CT results showed that the bone tissue parameters of the femoral condyle in the ovariectomy group were significantly different from those in the sham operation group(P＜0.05),and the ovariectomy group showed obvious characteristics of osteoporosis.(3)CT showed that the bone defect in the 4 mm and 5 mm diameter groups was basically completely repaired at 12 weeks after surgery.There was more new bone tissue in the 6 mm diameter group,but the central part of the bone defect was not completely repaired.A small amount of new bone tissue grew in the 7 mm diameter group,and the bone defect was obvious.(4)Gross observation at 12 weeks after surgery showed that the femoral condyle bone defect in the 4 mm and 5 mm diameter groups was completely repaired.Obvious depression was seen in the bone defect area of the 6 mm and 7 mm diameter groups,and the bone defect was not completely repaired.(5)Histological observation at 12 weeks after surgery showed that the bone defect area of the 4 mm and 5 mm diameter groups was completely filled with new bone,and the trabecular structure was irregular;while there were new trabeculae in the periphery of the 6 mm and 7 mm diameter groups,and the bone defect in the central area was still obvious.(6)The results showed that during the 12-week experimental observation period of osteoporotic femoral condyle defects in rabbits,under the condition of the same defect depth of 8 mm,femoral condyle defects with a diameter ≥ 6 mm could not heal on their own,while femoral condyle defects with a diameter＜6 mm were completely repaired.A diameter of 6 mm and a depth of 8 mm can be used as the critical bone defect value of osteoporotic femoral condyle in rabbits.

The rapid development of digital intelligence technologies is providing a powerful boost to the high-quality development of the healthcare system.Considering the current state of our healthcare services and guided by General Secretary Xi Jinping's insights on new quality productive forces and the directives from Third Plenary Session of Communist Party of China's 20th Central Committee,the high-quality development of the healthcare service system should focus on digital intelligence technologies such as cloud computing,big data,privacy computing,blockchain,Internet of Things(IoT),mobile computing,and AI.The key measures should include the optimization of production factors,services,and governance.Emphasis should be placed on enhancing the efficient and intensive development of the development model,ensuring the high-quality and continuous integration of the supply model,and transitioning to scientific and modern management methods.Herein,we analyzed the"factor optimization—service optimization—governance optimization"development mechanism driven by digital intelligence and proposed corresponding implementation pathways,intending to provide references for establishing a high-quality and efficient healthcare service system with Chinese characteristics.

Background Results of genetic testing for antipsychotic drugs can guide the rational use of drugs in clinical practice and help improve the clinical symptoms of patients with schizophrenia.However,there is currently limited evidence in China regarding the impact of genetic testing results on medication adherence,social function and drug side effects of antipsychotic drug treatment.Objective To explore the improvement of clinical symptoms,medication adherence and social function in patients with schizophrenia under the guidance of antipsychotic drug gene testing results and examine the safety of drug treatment,so as to provide references for ifor precise treatment of schizophrenia patients.Methods Patients with acute schizophrenia who received hospitalization at Dazhou Minkang Hospital from July 2019 to August 2021 as well as met the diagnostic criteria of the International Classification of Diseases,tenth edition(ICD-10)were selected as research subjects(n=144).Based on random number table,subjects were divided into study group and control group,with 72 cases in each group.Control group received drug treatment based on the doctor's clinical experience,while study group received drug treatment based on the results of gene testing for antipsychotic drug.Both treatments lasted for 12 weeks.At baseline as well as 2,4,8 and 12 weeks after treatment,Positive and Negative Syndrome Scale(PANSS),8-item Morisky Medication Adherence Scale(MMAS-8),Social Functional Rating Scale(SFRS)and Treatment Emergent Symptom Scale(TESS)were adopted for assessment.Result Time effect and group effect of the reducing rate of PANSS,MMAS-8 and SFRS scores in the groups were statistically significant(Ftime=95.251,6.650,14.101,Fgroup=38.055,58.175,128.221,P<0.01).The interaction effect of the reduction rates of MMAS-8 scores in two groups was statistically significant(Finteraction=5.837,P<0.01).The group effect and interaction effect of the severity scores of drug side effects and patient pain scores in two groups were statistically significant(Fgroup=7.553,81.533,Finteraction=8.693,9.322,P<0.01).Conclusion In terms of improving clinical symptom relief,medication adherence,social function and drug side effects,medication for patients with schizophrenia guided by genetic testing of antipsychotic drugs may be more effective than that relying on medication based on clinical experience.

Objective To review the occurrence of allergic reactions during therapeutic plasma exchange(TPE)and to explore the risk factors of TPE allergic reactions.Methods The clinical data of 929 patients treated with TPE using plasma components by the Department of Transfusion Medicine in our medical center from 2018 to 2023 were collected.The influen-cing factors of allergic reactions were analyzed by univariate analysis,and the independent risk factors of allergic reactions were analyzed by logistic multivariate regression analysis.Results A total of 4 071 TPEs were performed in 929 patients.A-mong them,198 patients(21.31%)experienced 349 times(8.57%)of allergic reactions,with the incidence of gradeⅠ,Ⅱ and Ⅲ allergic reactions of 16.33%,81.38%and 2.29%,respectively,and no deaths.The univariate analysis showed that the patient′s age,allergy history,diagnosis of immune-related diseases,ICU admission,plasma consumption,total blood volume,maximum blood flow rate and combined use of albumin were related to the occurrence of allergic reactions(P＜0.05).Multivariate regression analysis showed that young patients,a history of allergy,immune-related diseases and non-ICU patients were prone to allergic reactions in TPE,but the treatment options of TPE such as substitute fluid category,plasma consumption and blood flow rate were not related to the occurrence of allergic reactions.Conclusion There are sig-nificant individual differences in the occurrence of allergic reactions for TPE,and young age,history of allergies,immune-related diseases and non-ICU patients are risk factors for allergic reactions in TPE.Identifying patients with risk factors be-fore TPE treatment and giving corresponding preventive measures can reduce the incidence of allergic reactions.

Objective:To explore the application effect of the modified presentation assimilation discussion combined with heuristic clinical medicine teaching in training of extracorporeal membrane oxygenation specialist nurses.Methods:The convenient sampling method was used to select 62 nurses who participated in training of extracorporeal membrane oxygenation specialist nurses in the Second Affiliated Hospital of Zhengzhou University from January to June 2023 as the research objects. A total of 30 nurses who participated in the 25th training session from January to March 2023 were selected as the control group, and 32 nurses who participated in the 26th training session from April to June 2023 were selected as the observation group. The control group received conventional training method, while the observation group received modified presentation assimilation discussion combined with heuristic clinical medicine teaching. The theoretical knowledge and operational skills of nurses, core competence of extracorporeal membrane oxygenation specialist nurses and training satisfaction were compared between the two groups after training.Results:After training, the scores of theoretical knowledge and operational skills, core competence of extracorporeal membrane oxygenation specialist nurses and training satisfaction in observation group were higher than those in control group, and the differences were statistically significant ( P<0.05) . Conclusions:The modified presentation assimilation discussion combined with heuristic clinical medicine teaching can improve the theoretical knowledge and operational skills of extracorporeal membrane oxygenation specialist nurses, and the nurses' training satisfaction is higher.

Objective:To investigate assessment value of high-resolution computed tomography(HRCT)for the condition of patients with connective tissue disease(CTD)combined with interstitial lung disease(ILD)and its relationship with the abnormalities of antinuclear antibody(ANA).Methods:A total of 60 CTD-ILD patients who hospitalized in the Department of Rheumatology of the People's Hospital of Bozhou from January 2020 to June 2023 were collected,and they were divided into positive ANA group(33 cases)and negative ANA group(27 cases)according to whether ANA was positivity.All patients underwent HRCT examination and ANA level test,and the lung HRCT scores of them were obtained by lung function assessment.The receiver operating characteristic(ROC)curve was adopted to analyze the diagnostic value of lung HRCT score for CTD-ILD,and Spearman correlation analysis was adopted to assess the correlation between the complicated ILD and the abnormality of ANA level in patients with CTD.Results:In 60 CTD patients,29 cases had interlobular septal thickening,and 25 cases had ground-glass-like change,and 13 cases existed grid shadow,and 10 cases had bronchial vascular bundle thickening,and patients with the honeycomb lung and who with nodular foci were all 6 cases,and 5 cases had mosaic infusion,and 3 cases had lung consolidation.There were significant differences in ANA level and HRCT score of lung among different patients with different characteristics of HRCT images(F=7.115,178.080,P<0.05),respectively.In addition,the order of ANA levels from high to low was lung consolidation,honeycomb lung,mosaic perfusion,ground-glass-like change,bronchial vascular bundle thickening,grid shadow,nodular foci and interlobular septal thickening.Lung HRCT score[(4.67±1.02),ANA level(60.14±10.01)units]of positive ANA group were significantly higher than that[(2.12±1.03),ANA level(7.13±1.13)]of negative ANA group,and the difference was statistically significant(t=23.753,27.333,P<0.05).The area under curve(AUC)of ROC curve of lung HRCT score,ANA alone and the combination of them were 0.765,0.618 and 0.797 in diagnosing CTD-ILD,respectively,and all of them were>0.5,and the AUC values of lung HRCT score and the combined diagnosis were between 0.7-0.9.The results of the Spearman-correlation analysis showed that there was a positive correlation between lung HRCT score and ANA(r=0.463,P<0.001).Conclusion:The HRCT examination and lung HRCT score are helpful to assess the CTD-ILD condition,and patient with higher lung HRCT score has more severe CTD-ILD condition and higher abnormality of ANA.There is a positive correlation between lung HRCT score and ANA abnormality.