Objective To compare the benefits and drawbacks of primary patch expansion versus pericardial tube right ventricular-pulmonary artery connection in patients diagnosed with pulmonary atresia with ventricular septal defect (PA/VSD). Methods A retrospective study was conducted on patients diagnosed with PA/VSD who underwent primary right ventricular-pulmonary artery connection surgery at our center between 2010 and 2020. Patients were categorized into two groups based on the type of right ventricular-pulmonary artery connection: a pericardial tube group and a patch expansion group. Clinical data and imaging findings were compared between the two groups. Results A total of 51 patients were included in the study, comprising 31 males and 20 females, with a median age of 12.57 (4.57, 49.67) months. The pericardial tube group included 19 patients with a median age of 17.17 (7.33, 49.67) months, while the patch expansion group consisted of 32 patients with a median age of 8.58 (3.57, 52.72) months. In both groups, the diameter of pulmonary artery, McGoon index, and Nakata index significantly increased after treatment (P<0.001). However, the pericardial tube group exhibited a longer extracorporeal circulation time (P<0.001). The reoperation rate was notably high, with 74.51% of patients requiring further surgical intervention, including 26 (81.25%) patients in the patch expansion group and 12 (63.16%) patients in the pericardial tube group. No statistical differences were observed in long-term cure rates or mortality between the two groups (P＞0.005). Conclusion In patients with PA/VSD, both patch expansion and pericardial tube right ventricular-pulmonary artery connection serve as effective initial palliative treatment strategies that promote pulmonary vessel development and provide a favorable foundation for subsequent radical operations. However, compared to the pericardial tube approach, the patch expansion technique is simpler to perform and preserves some intrinsic potential for pulmonary artery development, making it the preferred procedure.

[This corrects the article DOI: 10.1016/j.apsb.2019.01.013.].

OBJECTIVE To screen for GJB2,mitochondrial DNA12S rRNA 1555A>G and SLC26A4 gene mutations in 27 non syndromic hereditary hearing loss families,clarify the genetic causes.METHODS 125 members from 27 deaf families were for questionnaire surveys,audiological examinations,and peripheral blood DNA extraction.The GJB2,SLC26A4,and mitochondrial DNA A1555G coding regions were amplified and directly sequenced.RESULTS Twelve families and 52 individuals were screened for deafness gene mutations,the detection rate in 27 families was 44%(12/27),and the detection rate in all the members was 42%(52/125).The detection rate of gene mutation for GJB2 is 31%(39/125),for SLC26A4 is 6%(8/125),and for mitochondrial DNA1555A>G mutation is 4%(5/125).CONCLUSION GJB2,SLC26A4 and mitochondrial A1555G have a high detection rate in families with hereditary deafness.Mutation screening of these three genes can clarify the genetic causes of most deafness families and can be used as genetic screening targets for hereditary deaf families.

Objective To comprehensively analyze the clinical outcomes of total cavopulmonary connection (TCPC) in the treatment of functional single ventricle combined with heterotaxy syndrome (HS). Methods A retrospective analysis was conducted on the patients with functional single ventricle and HS who underwent TCPC (a HS group) in Guangdong Provincial People's Hospital between 2004 and 2021. The analysis focused on postoperative complications, long-term survival rates, and identifying factors associated with patient survival. Early and late postoperative outcomes were compared with matched non-HS patients (a non-HS group). Results Before propensity score matching, 55 patients were collected in the HS group, including 42 males and 13 females, with a median age of 6.0 (4.2, 11.8) years and a median weight of 17.0 (14.2, 28.8) kg. Among the patients, there were 53 patients of right atrial isomerism and 2 patients of left atrial isomerism. Eight patients underwent TCPC in one stage. TCPC procedures included extracardiac conduit (n=39), intracardiac-extracardiac conduit (n=14), and direct cavopulmonary connection (n=2). Postoperative complications included infections in 27 patients, liver function damage in 19 patients, and acute kidney injury in 11 patients. There were 5 early deaths. The median follow-up time was 94.7 (64.3, 129.8) months. The 1-year, 5-year, and 10-year survival rates were 87.2%, 85.3%, and 74.3%, respectively. After propensity score matching, there were 45 patients in the HS group and 81 patients in the non-HS group. Compared to the non-HS group, those with HS had longer surgical and mechanical ventilation time, higher infection rates (P<0.05), and a 12.9% lower 10-year survival rate. Multivariate Cox regression analysis identified asplenia was a risk factor for mortality (HR=8.98, 95%CI 1.86-43.34, P=0.006). Conclusion Compared to non-HS patients, patients with HS have lower survival rates after TCPC, and asplenia is an independent risk factor for the survival of these patients.

Objective:To investigate the efficacy and safety of intravenous thrombolysis and antiplatelet therapy in patients with stroke warning syndrome (SWS), as well as influencing factors of the outcome in patients with SWS.Method:Patients with SWS admitted to the 521 st Hospital of Ordnance Group from June 1, 2018 to December 31, 2023 were retrospectively included. Some patients were treated with ateplase intravenous thrombolysis, followed by oral antiplatelet therapy; some patients only received antiplatelet therapy. The main outcome measure was the modified Rankin Scale score at 90 days after onset, with a score of 0-2 defined as good outcome. Results:A total of 35 patients with SWS were included, including 26 males (74.3%) with an age of 58.29±11.06 years. Nineteen patients (54.3%) received intravenous thrombolysis, and 27 (77.1%) had good outcome at 90 days. There was no statistically significant difference in demographic, baseline data, and good outcome between the intravenous thrombolysis group and the antiplatelet therapy group. One patient had new stroke and one had transient ischemic attack in the intravenous thrombolysis group. There were statistically significant differences in ABCD2 score, systolic blood pressure, low-density lipoprotein cholesterol, fasting blood glucose, highest National Institutes of Health Stroke Scale (NIHSS) score at onset, and symptom duration between the good outcome group and the poor outcome group (all P<0.05). Conclusions:The efficacy of intravenous thrombolysis is similar to that of antiplatelet drugs alone in treating SWS. ABCD2 score, systolic blood pressure, low-density lipoprotein cholesterol, fasting blood glucose, highest NIHSS score at onset, and duration of symptoms may be influencing factors for the outcome of patients with SWS.

Objective:To construct a spatial radiomics model based on the spatial distribution characteristics of supratentorial pilocytic astrocytoma (PA) and ganglioglioma (GG) and to evaluate its differential diagnosis efficiency.Methods:The study was a cross-sectional study. A retrospective collection of 244 patients with episodic PA and GG who attended Beijing Tiantan Hospital of Capital Medical University (Center 1) from June 2016 to June 2022 and 116 patients with episodic PA and GG who attended General Hospital of Eastern Theater Command (Center 2) from March 2019 to October 2022 was performed. The patients in Center 1 were divided into a training set (171 patients) and a validation set (73 patients) in a 7∶3 ratio according to the random number table method, and the patients in Center 2 as a whole were regarded as test sets. All patients underwent MRI. Segmentation of tumor based on enhanced T 1WI and T 2WI images, alignment to standard space to generate a statistical parametric mapping of tumor locations and intergroup comparison was conducted. The Johns Hopkins University template was used to extract 189 tumor location features to construct a spatial model of tumor location; PyRadiomic 3.0.1 software was used to extract tumor radiomics features to construct a radiomics model; and the two models were fused to construct a spatial radiomics model. The efficacy of spatial radiomics model, spatial model, and radiomics model to discriminate PA from GG was analyzed using receiver operating characteristic curves and area under the curve (AUC). The generalization ability of the model was assessed by the difference in accuracy between the test sets and the validation sets (ΔACC). The clinical utility of the model was compared using clinical decision curves and calibration curves. Results:The statistical parametric mapping of lesions showed that supratentorial PA was vulnerable to medial structure areas such as suprasellar region, thalamus, basal ganglia and frontal lobe, temporal lobe, parietal lobe. GG was mainly distributed in bilateral temporal lobes, as well as frontal lobe, occipital lobe and parietal lobe. The AUCs of spatial radiomics model, radiomics model and spatial model to identify PA and GG in the test set were 0.876, 0.785, and 0.819, with accuracies of 77.59%, 72.41%, and 77.14%, respectively, and ΔACCs in the test set and validation set were 11.6%, 15.43%, and 6.94%, respectively. The clinical decision curves showed an overall greater clinical benefit of the spatial radiomics model compared with the conventional radiomics model and spatial model.Conclusion:Spatial radiomics model containing spatial information on lesion location can improve the diagnostic efficacy of supratentorial PA and GG, and enhance the generalization of the prediction model.

Diffuse leptomeningeal glioneuronal tumor (DLGNT) is a rare, low-grade neoplasm, which is newly categorized into the neuronal and mixed neuro-glial tumor in 2016. The most characteristic imaging findings are diffuse leptomeningeal thickening and enhancement with multiple minor cysts. This article described a case with DLGNT mimicking meningitis, whose cystic lesions were not obvious, with swollen multiple lobes cortex, gyri form cortical calcification and enhanced meninges. Meningeal irritation sign repeated attacks and the clinical symptoms gradually improved after steroid pulse therapy. The biopsy and immunohistochemistry staining were diagnosed as DLGNT. The imaging features and clinical data of this case were analyzed to improve the understanding of the disease in clinical practice.

Objective:To construct a multi-label learning MRI model for assisting diagnosis of sports injury in knee.Methods:A total of 1 391 knee MRI cases from 1 343 young adults with sports injury in Affiliated Jinling Hospital Nanjing University School of Medicine were retrospectively enrolled. The image cases were randomly divided into training set ( n=973), validation set ( n=139) and test set ( n=279) with ratio of 7∶1∶2. The knee injuries were divided into six categories: meniscus injury, tendon injury, ligament injury, osteochondral injury, synovial bursa disorder and soft tissue injury. Using PyTorch V1.1.0 algorithm package, the Yolo model of deep learning was used to construct the MRI knee joint sports injury detection model. The model was validated on the test set, and the sensitivity, specificity and mean average precision of lesion detection were evaluated. Results:Among the 279 patients in test set, the mean average precision of meniscus injury, tendon injury, ligament injury, osteochondral injury, synovial bursa disorder and soft tissue injury were 83.1%, 89.0%, 88.0%, 85.8%, 85.5% and 83.2%, respectively, and the overall mean average precision was 85.8%. The model was most effective in detecting tendon injury. The sensitivity and specificity of the model for tendon injury were 91.2% and 87.1% respectively.Conclusions:The multi-label MRI knee joint exercise-related injury detection model based on deep learning can effectively assist in detecting the exercise-related injury of knee joint in each tissue structure, and is expected to improve the efficiency of diagnosis and treatment in orthopedics.

OBJECTIVE: To explore the genetic basis for a child with unexplained global developmental delay (GDD), seizure, and facial deformity. METHODS: Whole exome sequencing (WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of the patient and his parents. RESULTS: WES revealed that the patient has carried a previously unreported de novo heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene, Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.4906C>T variant of KMT2A gene was predicted to be pathogenic (PVS1+ PS2+ PM2+PP3). CONCLUSION The heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene probably underlay the disease in the child. Above finding has enriched the spectrum of pathogenic variants of the KMT2A gene.
Abnormalities, Multiple/genetics* ; Child ; Histone-Lysine N-Methyltransferase/genetics* ; Humans ; Intellectual Disability/genetics* ; Male ; Myeloid-Lymphoid Leukemia Protein/genetics* ; Syndrome

Glioma is the most common malignant brain tumor and classification of low grade glioma (LGG) and high grade glioma (HGG) is an important reference of making decisions on patient treatment options and prognosis. This work is largely done manually by pathologist based on an examination of whole slide image (WSI), which is arduous and heavily dependent on doctors' experience. In the World Health Organization (WHO) criteria, grade of glioma is closely related to hypercellularity, nuclear atypia and necrosis. Inspired by this, this paper designed and extracted cell density and atypia features to classify LGG and HGG. First, regions of interest (ROI) were located by analyzing cell density and global density features were extracted as well. Second, local density and atypia features were extracted in ROI. Third, balanced support vector machine (SVM) classifier was trained and tested using 10 selected features. The area under the curve (AUC) and accuracy (ACC) of 5-fold cross validation were 0.92 ± 0.01 and 0.82 ± 0.01 respectively. The results demonstrate that the proposed method of locating ROI is effective and the designed features of density and atypia can be used to predict glioma grade accurately, which can provide reliable basis for clinical diagnosis.
Brain Neoplasms/diagnostic imaging* ; Glioma/diagnostic imaging* ; Humans ; Magnetic Resonance Imaging ; Neoplasm Grading ; Support Vector Machine