Objective To investigate the genetic causes of auditory neuropathy with optic atrophy in a family.Methods The proband's medical history and family history were inquired in detail,and relevant clinical examina-tions were performed to confirm the diagnosis of auditory neuropathy with optic atrophy,and the genetic pedigree of the family was drawn.Peripheral blood of proband(Ⅲ-7)was collected for whole exome sequencing,and the patho-genicity of the detected mutations were interpreted.Blood samples of proband's wife(Ⅲ-8),eldest daughter(Ⅳ-7),second daughter(Ⅳ-9)and son(Ⅳ-10)were tested for mutation sites by Sanger sequencing.Combined with clinical manifestations and examination results,the family was studied.Results The genetic pattern of this family was autosomal dominant.The proband showed decreased visual acuity at the age of 19,bilateral sensorineural deaf-ness at the age of 30,and decreased speech recognition rate.Among 20 members of the family of 5 generations,10(2 deceased)showed similar symptoms of hearing and visual impairment.Proband(Ⅲ-7),eldest daughter(Ⅳ-7)and son(Ⅳ-10)underwent relevant examination.Pure tone audiometry showed bilateral sensorineural deafness.ABR showed no response bilaterally.The 40 Hz AERP showed no response in both ears.OAE showed responses in some or all of the frequencies.No stapedial reflex was detected.The eye movement of Ⅲ-7 and Ⅳ-10 were reasona-ble in all directions,and color vision was normal.Ocular papilla atrophy was observed in different degrees in fundus examination.OCT showed thinning of optic disc nerve fibers in both eyes,and visual evoked potential showed pro-longed P100 wave peak.They were diagnosed as hereditary auditory neuropathy with optic atrophy.A mutation of the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)at a pathogenic locus on chromosome 3 was detected by whole exon detection in Ⅲ-7.The results of generation sequencing analysis showed that the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)mutation of chromosome 3 was also found in Ⅳ-7 and Ⅳ-10.Meanwhile,the gen-otypes of Ⅲ-8 and Ⅳ-9 were wild homozygous,that is,no mutation occurred.Conclusion The OPA1 c.1334G＞A(p.Arg445His,NM_015560.2)mutation site might be the pathogenic mutation in this family.

Objective:To investigate the value of the virtual monoenergetic image (VMI) obtained by a new dual-layer detector spectral CT combined with metal artifact reduction algorithms(O-MAR) in reduction of different types of artifacts caused by 125I seeds implantation and in improvement of the post-operative CT image quality. Methods:This was a cross-sectional study. Thirty-five patients who underwent dual-layer detector spectral CT scanning of the chest and abdomen after 125I seeds implantation were retrospectively included at the First Affiliated Hospital of Zhengzhou University from March to September 2022. The spectral data were collected and reconstructed into conventional CT image (CI), VMI image (50-150 keV, 20 keV/level), CI+O-MAR image, and VMI+O-MAR image (50-150 keV, 20 keV/level). The artifacts′ removal effects and image quality improvement in each group were evaluated. Two slices with the strongest artifacts were selected for analysis for each patient, resulting in a total of 70 slices. Objective indicators including artifact index (AI), signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of soft tissue regions affected by artifacts were measured and calculated. Subjective indicators including the overcorrected artifacts and new artifacts, the different forms of artifacts, the diagnosis of artifacts, and the image quality were assessed. One-way analysis of variance was used for comparisons among multiple groups. Paired t test was used to compare the quantitative indicators between the combined O-MAR group and the non-O-MAR group. Kappa statistics was used to evaluate the consistency between observers. Results:In high/low-density artifacts (ROI H/L), the AI values in all groups showed decrease with increasing VMI keV. In artifact-affected tissue (ROI T), SNR of the CI/VMI (70-150 keV)+O-MAR group were significantly higher than those of the CI/VMI group ( P<0.05), CNR of the CI/VMI(50-150 keV)+O-MAR group were significantly higher than those of the CI/VMI group ( P<0.05). Both overcorrection and new artifacts mainly presented in VMI 50 keV and VMI 70 keV groups; Compared with VMI (50-70 keV) group, significantly less numbers of overcorrection and new artifacts were found in VMI (50-70 keV)+O-MAR group ( P<0.05); regarding the comparison of artifact types, with the VMI keV increasing, the number of a-type banded artifacts gradually decreased on images with high-density artifacts, reaching a minimum of 3 in the VMI 150 keV+O-MAR group; while the number of e-type artifacts with little or no artifacts increased, with the highest number of 23 in the VMI 150 keV+O-MAR group. The total number of high-density artifacts in each type decreased with increasing VMI keV. As VMI keV increased, the diagnostic and image quality scores of high-density artifacts in each group were significantly higher than those of low-density artifacts in the VMI+O-MAR group ( P<0.05). Conclusions:VMI combined with O-MAR can significantly improve the objective and subjective image quality of follow-up CT imaging after 125I seed implantation, enhancing lesion visibility and diagnostic confidence. Additionally, VMI+O-MAR showed more pronounced correction effect on high-density artifacts.

Objective:To compare image quality and diagnostic parameters of whole-brain CT perfusion scans under different scanning conditions and assess the utility of deep learning image reconstruction algorithm (DLIR) in reducing tube current during low-dose scans.Methods:Method A total of 105 patients with suspected acute ischemic stroke (AIS) were prospectively enrolled in the First Affiliated Hospital of Zhengzhou University from March, 2022 to March, 203 and their baseline information was recorded. All patients underwent head non-contrast CT and CT perfusion (CTP) examinations. CTP scanning was performed at 80 kV in two groups with the tube current of 150 mA (regular dose) and 100 mA (low dose), respectively. The CTP images of 150 mA group were reconstructed using filtered back-projection algorithm as well as adaptive statistical iterative reconstruction-V (ASIR-V) at 40% and 80% strength levels, which were denoted as groups A-C. The CTP images of 100 mA group were reconstructed using ASIR-V80%, DLIR-M, and DLIR-H, which were denoted as groups D-F. Clinical baseline characteristics and radiation doses were compared between the two groups under different scanning conditions. Furthermore, we assessed the subjective and objective image quality, conventional perfusion parameters, and abnormal perfusion parameters of AIS patients across the six groups of reconstructed CTP images.Results:Under the scanning conditions of 150 mA and 100 mA, 47 and 48 patients were diagnosed with AIS, respectively. There were no significant differences in the baseline characteristics between the two groups. However, there was a significant difference in the mean effective radiation dose (5.71 mSv vs. 3.80 mSv, t = 2 768.30, P < 0.001). The standard deviation (SD) of noise, signal-to-noise ratio (SNR), and contrast-to-noise ratio (CNR) of gray matter (GM) and white matter (WM) were significantly different among the six groups of reconstructed images ( F = 40.58-212.13, P < 0.001). In GM, the SD values in groups C, D, and F were lower than those in other groups ( P < 0.05), and the SNR values in groups C and F were higher than those in other groups ( P < 0.05). In WM, the SD and SNR values in groups C and F were significantly different from those in other groups ( P < 0.05). Additionally, CNR values in groups C and F were higher than those in other groups ( P < 0.05). There was no significant difference in subjective scores among groups B, C, and F ( P > 0.05). Regarding perfusion parameters in the brain GM, groups D and E had lower cerebral blood volume (CBV) values compared to groups A to C ( P < 0.05), and group F had lower CBV values than group B ( P < 0.05). In the brain WM, group D had consistently lower mean transit time (MTT) values compared to the other groups ( P < 0.05). Notably, there were no significant differences in AIS lesion detection rates and relevant diagnostic parameters across the six image groups. Conclusions:Low-tube current CTP scan combined with the DLIR-H algorithm can enhance image quality without affecting perfusion parameters such as CBV and MTT, while reducing radiation dose by 30%. This algorithm can be routinely applied in brain CTP examinations.

Objective:To assess the trends in case-fatality rates for acute myocardial infarction (AMI) in China from 2015 to 2019.Methods:This study employed a population-based surveillance. Data from the China Registry of Acute Cardiovascular Event (China RACE) were utilized, including AMI cases reported by Grade Ⅱ and Grade Ⅲ hospitals at the disease surveillance sites across China from January 1 st 2015 to December 31 st 2019. The 28-day mortality outcome for reported AMI events was obtained by linking to the national death certificate registry system. The study analyzed the overall and age-standardized case-fatality rates, as well as their annual percent change (APC), during the study period, stratified by gender, age, and region. Results:The overall 28-day case fatality rate for AMI was 28.97% (22 532/77 764) from 2015 to 2019. The age-standardized case-fatality rate for AMI declined significantly from 37.53% in 2015 to 18.58% in 2019, with an APC of -14.33% ( P=0.018). We observed a significant downward trend in case-fatality rates of AMI in both genders (both P<0.05). Among males, the case-fatality rate decreased more steeply in younger males compared to elder counterparts. The most marked decreases were seen in males aged<35 years and 35 to 44 years, with APC of -27.63% ( P=0.007) and -22.65% ( P=0.004), respectively. In females, we observed a relatively stable decrease in case-fatality across age groups. The age-standardized case-fatality rate of AMI in eastern and central China decreased significantly from 2015 to 2019, with the APC of -19.22% ( P=0.006) and -15.62% ( P=0.032) respectively. However, the age-standardized case-fatality rate of AMI in western China remained stable ( P=0.227). Conclusions:The prognosis of AMI has considerably improved from 2015 to 2019 in China, regardless of ages and gender. Inequality in case-fatality rates among geographic regions highlights the need for targeted strategies in AMI prevention in western regions.

Objective:To determine the expression and diagnostic value of peripheral blood lymphocytes and functional activation status in non-Hodgkin lymphoma with hemophagocytic lymphohistiocytosis (NHL-HLH) .Methods:We retrospectively analyzed clinical data from 30 newly diagnosed NHL-HLH patients admitted to Jiangsu Province Hospital from September 2022 to September 2023. We assessed peripheral blood lymphocytes and activation status by flow cytometry. Forty newly diagnosed patients with NHL who received treatment at our hospital during the same period and had lymphocyte and functional activation indexes were selected as the control group. The differences in relative and absolute lymphocyte counts and functional activation indexes between the two groups were compared. The optimal cutoff values for continuous variables were calculated from the receiver operating characteristic curve and logistic regression analysis was used to evaluate the risk factors in NHL patients with HLH.Results:A total of 30 NHL-HLH patients were evaluated, including 12 T-cell lymphoma and 18 B-cell lymphoma patients. Forty individuals were in the control group, which included 19 T-cell lymphoma and 21 B-cell lymphoma patients. The absolute counts of CD3 + T, CD4 + T, CD8 + T, and NK cells, along with the relative count of NK cells, were significantly lower in the HLH group compared with that in the control group (all P values<0.01) . The expression of CD38 and HLA-DR on CD8 + T-cell activated subgroups was significantly higher in the NHL-HLH group compared with that in the control group (CD8 +CD38 +/CD8 + T expression median: 57.4% vs 21.5%, P<0.001; CD8 +CD38 +/CD8 + T expression median: 49.7% vs 33.5%, P=0.028, respectively) . In addition, CD28 expression on CD4 + and CD8 + T cells was significantly higher in NHL-HLH patients ( P<0.01) . ROC curve and multivariate logistic regression analyses revealed that absolute NK cell count ≤72.0 cells/μl, CD4 +CD28 +/CD4 + T >94.2%, and CD8 +CD28 +/CD8 + T >38.4% were risk factors for predicting the occurrence of NHL-HLH patients. The sensitivity and specificity of the regression model were 86.7% and 86.1%, respectively, with an area under the curve of 0.94 ( P<0.001) . Conclusions:In NHL patients with HLH, there was a significant reduction in the absolute number of peripheral blood lymphocyte subpopulations, whereas T-cell function was notably activated. Specifically, absolute counts of NK cells ≤72.0 cells/μl, CD4 +CD28 +/CD4 + T >94.2%, and CD8 +CD28 +/CD8 + T >38.4% were identified as risk factors for predicting the development of NHL-HLH patients. This will assist in early clinical diagnosis and treatment.

BACKGROUND: Red-cell transfusion is critical for surgery during the peri-operative period; however, the transfusion threshold remains controversial mainly owing to the diversity among patients. The patient's medical status should be evaluated before making a transfusion decision. Herein, we developed an individualized transfusion strategy using the West-China-Liu's Score based on the physiology of oxygen delivery/consumption balance and designed an open-label, multicenter, randomized clinical trial to verify whether it reduced red cell requirement as compared with that associated with restrictive and liberal strategies safely and effectively, providing valid evidence for peri-operative transfusion. METHODS: Patients aged >14 years undergoing elective non-cardiac surgery with estimated blood loss > 1000 mL or 20% blood volume and hemoglobin concentration <10 g/dL were randomly assigned to an individualized strategy, a restrictive strategy following China's guideline or a liberal strategy with a transfusion threshold of hemoglobin concentration <9.5 g/dL. We evaluated two primary outcomes: the proportion of patients who received red blood cells (superiority test) and a composite of in-hospital complications and all-cause mortality by day 30 (non-inferiority test). RESULTS: We enrolled 1182 patients: 379, 419, and 384 received individualized, restrictive, and liberal strategies, respectively. Approximately 30.6% (116/379) of patients in the individualized strategy received a red-cell transfusion, less than 62.5% (262/419) in the restrictive strategy (absolute risk difference, 31.92%; 97.5% confidence interval [CI]: 24.42-39.42%; odds ratio, 3.78%; 97.5% CI: 2.70-5.30%; P <0.001), and 89.8% (345/384) in the liberal strategy (absolute risk difference, 59.24%; 97.5% CI: 52.91-65.57%; odds ratio, 20.06; 97.5% CI: 12.74-31.57; P <0.001). No statistically significant differences were found in the composite of in-hospital complications and mortality by day 30 among the three strategies. CONCLUSION: The individualized red-cell transfusion strategy using the West-China-Liu's Score reduced red-cell transfusion without increasing in-hospital complications and mortality by day 30 when compared with restrictive and liberal strategies in elective non-cardiac surgeries. TRIAL REGISTRATION ClinicalTrials.gov, NCT01597232.
Humans ; Adult ; Postoperative Complications ; Erythrocyte Transfusion/adverse effects* ; Blood Transfusion ; Hospitals ; Hemoglobins/analysis*

Female ; Humans ; Pregnancy ; Septate Uterus ; Uterus/surgery* ; Hysteroscopy/methods* ; Estrogens ; Tissue Adhesions/surgery* ; Randomized Controlled Trials as Topic ; Multicenter Studies as Topic

Objective:To explore the clinical value of quantitative parameters on spectral CT in predicting the invasiveness of lung adenocarcinoma manifesting as ground-glass nodules (GGN).Methods:The clinical and imaging data of 129 patients with pathologically confirmed lung adenocarcinoma who were surgically resected in the First Affiliated Hospital of Zhengzhou University from March to October 2022 were retrospectively analyzed, including 45 males and 84 females, aged from 33 to 81. According to the pathological results, they were divided into the minimally invasive adenocarcinoma (MIA) group ( n=64) and the invasive adenocarcinoma (IAC) group ( n=65). All patients underwent enhanced spectral CT within two weeks before surgery. The iodine density map, Z-Effective (Z eff) map, and electron density (ED) map were reconstructed on the post-processing workstation, and the spectral parameters, including normalized iodine concentration (NIC), arterial enhancement fraction (AEF), Z eff, and ED were measured and calculated. Conventional CT features were analyzed, including maximum diameter, CT value, nodule types, margin, lobulation sign, spiculation sign, bubble sign, pleural retraction sign, abnormal vascular sign, and air bronchial sign. The clinical features, conventional CT characteristics and spectral CT parameters of two groups were compared using the independent sample t test, the Mann-Whitney U test, and the χ 2 test. Multivariate logistic regression analysis was used to evaluate the independent risk factors of lung adenocarcinoma invasiveness, and the model was constructed. Receiver operating characteristic (ROC) curve analysis was performed to evaluate the performance of parameters and models in predicting the invasiveness of lung adenocarcinoma. Results:There were significant differences between the MIA group and IAC group in maximum diameter, CT value, nodule type, margin, spiculation sign, pleural retraction sign, air bronchial sign, venous phase NIC, AEF, venous phase Z eff, arterial phase ED, venous phase ED ( P<0.05). Multivariate logistic regression analysis showed that the maximum diameter (OR=1.183, 95%CI 1.062-1.318), CT value (OR=1.004, 95%CI 1.001-1.007), venous phase NIC (OR=1.185, 95%CI 1.083-1.298), AEF(OR=0.975, 95%CI 0.957-0.994), venous phase Z eff (OR=0.031, 95%CI 0.005-0.196) were independent influence factors for the invasiveness of lung adenocarcinoma. The conventional CT model was established with the maximum diameter and CT value, and the spectral CT model was established with venous phase NIC, AEF, and venous phase Z eff. The combined model was established with all the parameters above. Areas under the ROC curve of the conventional CT model, the spectral CT model, and the combined model for predicting the invasiveness of lung adenocarcinoma were 0.828, 0.854, and 0.902, respectively. Conclusion:The quantitative parameters of double-layer detector spectral CT can be used as an indicator to predict the invasiveness of lung adenocarcinoma manifesting as GGN, and AEF has the highest diagnostic efficacy. Spectral CT combined with conventional CT features can further improve the diagnostic efficiency.

Objective:To evaluate the necessity, safety and efficacy of endovascular treatment for cerebral infarction caused by middle cerebral artery (MCA) stenosis with hypoperfusion in the blood supply area of the lenticulostriate artery.Methods:The clinical and surgical data of patients with MCA atherosclerotic disease who underwent endovascular treatment in the First Affiliated Hospital of Zhengzhou University from January 2014 to October 2021 were retrospectively analyzed. A total of 6 patients with cerebral infarction caused by MCA stenosis with hypoperfusion in the blood supply area of the lenticulostriate artery were selected. The preoperative and postoperative clinical imaging characteristics, perioperative complications and follow-up of these 6 patients were summarized and evaluated.Results:After the endovascular treatment, the imaging of the lenticulostriate artery in all the 6 patients was clearer than that before the operation, and the number of main trunks of the lenticulostriate artery shown by imaging in 2 patients was more than that before operation. The computer tomography perfusion of 6 patients after the endovascular treatment showed that perfusion in the supply area of the lenticulostriate artery was significantly improved compared with pre-operation. No stroke, transient ischemic attack (TIA) and death occurred during the perioperative period. The time of clinical follow-up was 360 (322, 495) days, and there were no stroke, TIA or death occurring in the corresponding artery. All the 6 patients underwent imaging follow-up, of which 3 patients underwent digital subtraction angiography and 3 underwent CT angiography. The lumen of the target vessels showed patency in all patients.Conclusions:With rigorous imaging evaluation, endovascular treatment may be safe and effective for cerebral infarction caused by MCA stenosis with hypoperfusion in the blood supply area of the lenticulostriate artery.

Objective:To explore the application value of 3D-slicer software in measuring renal volume parameters of renal transplant donors in evaluating renal function.Methods:The data of 31 renal donors admitted to Beijing Friendship Hospital, Capital Medical University from October 2019 to September 2022 were retrospectively analyzed. Glomerular filtration rate (GFR) were measured by SPECT radioactive dynamic imaging, and renal cortex volume (RCV), renal parenchymal volume (RPV) were measured after 3D reconstruction of urinary enhanced CT based on 3D slicer software. The estimated GFR(eGFR) predicted by creatinine-based GFR estimation equations (C-G equation, modified and simplified MDRD equation) and volume-based GFR estimation equations (Herts equation, Choi equation). Different eGFR were calculated, and the correlation between kidney volume parameters, eGFR equations and measured GFR was analyzed. The deviation, accuracy and consistency between different equations eGFR and measured GFR were analyzed and compared. The measurement data of normal distribution were expressed as mean±standard deviation ( ± s), and t-test was used for inter-group comparison. Measurement data with non-normal distribution were represented by M( Q1, Q3), and non-parametric test was used for comparison between groups. Results:The correlation between different eGFR and measured GFR is poor, and the deviation is small, and with good accuracy and consistency. Except for the weak correlation between the Choi equation eGFR and measured GFR ( r=0.382, P=0.034), there was no significant correlation between eGFR by other equations and measured GFR ( P>0.05). Among them, the deviation between the Herts equation-eGFR and measured GFR was the smallest (0.30 mL·min -1·1.73 m -2), with a 10% coincidence rate (61.29%) and a 30% coincidence rate (96.77%), and the best consistency with measured GFR, with a consistency limit of -28.75 to 29.34 mL·min -1·1.73 m -2. Conclusion:Compared with the laboratory index formula method, the Herts equation has better prediction efficiency in estimating GFR, The measurement of renal volume parameters by 3D slicer software has a certain clinical value in evaluating the renal function of renal donors, which is worthy of further application.