t(8;14;18): A 3-way chromosome translocation in two patients with Burkitt's lymphoma/leukemia

Burkitt's lymphoma (BL) is a heterogeneous group of highly aggressive mature B-cell malignancies. It is characterized by a high rate of turnover of malignant cells and deregulation of the c-myc gene. It is typically associated with a t(8;14) translocation. Dual translocation of t(8;14) (c-myc) and t(14;18) (bcl-2) was reported to be associated with extremely poor prognosis. This study reports a novel t(8;14;18) triple translocation in two patients with Burkitt's lymphoma

3D-printed custom implant for the management of “locked” posterior dislocation of the shoulder joint with reverse Hill-Sachs lesion: a case report

Introduction: Irregular bone defects of the humerus are common in clinical practice, but there are fewer reported cases of irregular humeral defects accompanied by shoulder joint “locking” dislocation and reverse Hill-Sachs injury caused by an electric shock. The choice of treatment for such cases is closely related to the extent of shoulder joint function recovery. This is a case report of a 60-year-old male patient who suffered from a shoulder joint “locking” dislocation with accompanying reverse Hill-Sachs injury due to muscle contraction after being electrically shocked at work. The patient was treated with a 3D-printed custom humeral head prosthesis for the treatment of the shoulder joint “locking” dislocation and reverse Hill-Sachs injury.Case presentation: A 60-year-old male patient, working as a construction worker, presented to our emergency department with right shoulder pain and restricted movement for more than 30 min after an electric shock. Right humeral CT revealed a comminuted fracture of the right humeral head. D-dimer levels were significantly elevated at 3239.00 ng/mL, and oxygen partial pressure was slightly decreased at 68 mmHg. Treatment included emergency wound debridement and dressing for the electrical injury, cardioprotective measures, anticoagulation, and symptomatic management. After stabilizing the patient’s condition, the patient underwent 3D-printed custom prosthesis-assisted partial replacement of the right humeral head and rotator cuff repair in the orthopedic department. Postoperatively, the patient’s right shoulder joint wound healed well, and mobility was restored.Conclusion: This case report demonstrates that the use of a 3D-printed custom prosthesis for the treatment of irregular humeral bone defects caused by specific injury mechanisms, especially cases involving shoulder joint “locking” dislocation and reverse Hill-Sachs injury, can achieve precise bone defect repair, minimize surgical trauma, and provide superior outcomes in terms of postoperative functional rehabilitation

How early can myocardial iron overload occur in Beta thalassemia major?

BACKGROUND: Myocardial siderosis is the most common cause of death in patients with beta thalassemia major(TM). This study aimed at investigating the occurrence, prevalence and severity of cardiac iron overload in a young Chinese population with beta TM. METHODS AND RESULTS: We analyzed T2* cardiac magnetic resonance (CMR), left ventricular ejection fraction (LVEF) and serum ferritin (SF) in 201 beta TM patients. The median age was 9 years old. Patients received an average of 13 units of blood per year. The median SF level was 4536 ng/ml and 165 patients (82.1%) had SF>2500 ng/ml. Myocardial iron overload was detected in 68 patients (33.8%) and severe myocardial iron overload was detected in 26 patients (12.6%). Twenty-two patients ≤10 years old had myocardial iron overload, three of whom were only 6 years old. No myocardial iron overload was detected under the age of 6 years. Median LVEF was 64% (measured by CMR in 175 patients). Five of 6 patients with a LVEF<56% and 8 of 10 patients with cardiac disease had myocardial iron overload. CONCLUSIONS: The TM patients under follow-up at this regional centre in China patients are younger than other reported cohorts, more poorly-chelated, and have a high burden of iron overload. Myocardial siderosis occurred in patients younger than previously reported, and was strongly associated with impaired LVEF and cardiac disease. For such poorly-chelated TM patients, our data shows that the first assessment of cardiac T2* should be performed as early as 6 years old

Factors associated with stress among pregnant women with a second child in Hunan province under China’s two-child policy: a mixed-method study

Abstract Objective The purpose of the study was to investigate the status of pregnancy stress and to explore factors associated with pregnancy stress among women by China’s two-child policy. Methods A mixed-method study involving both quantitative and qualitative methods was conducted using questionnaires and semi-structured interviews. The questionnaires encompassed socio-demographic and obstetric characteristics, as well as the Pregnancy Stress Rating Scale (PSRS) and the Social Support Rating Scale (SSRS). Initially, the participants were required to complete the questionnaires, enabling us to assess their respective pregnancy stress statuses. Subsequently, we selectively interviewed pregnant women with a second child and exhibited at least mild pregnancy stress. The qualitative study sought to uncover the factors contributing to their stress during pregnancy. Results A total of 463 subjects were enrolled; of the subjects, 22 (4.8%) had no stress, 407 (87.9%) had mild stress, 34 (7.3%) had moderate stress. Generalized linear regression analysis revealed significant factors (P<0.05) related to pregnancy stress, including family financial burden, subjective support, fertility desire, gender of the first child, and gender preference. Additionally, 16 subjects were interviewed, and through analysis, three major themes emerged, each comprising 12 sub-themes associated with pregnancy stress. These themes were identified as fertility factors (worry about maternal and child health, birth experience, and parenting stress), family factors ( financial burden, second child care problems, first child’s acceptance of the second child, family concerns, fertility desire, and gender preference) and social factors (involving life events, career development and workload). Conclusion The diver factors contribute to pregnancy stress among pregnant women under China’s two-child policy. Our study could be used to develop appropriate interventions to reduce pregnancy stress and to enhance the mental health of women pregnant with a second child

Deep Learning-Based Target Point Localization for UAV Inspection of Point Cloud Transmission Towers

UAV transmission tower inspection is the use of UAV technology for regular inspection and troubleshooting of towers on transmission lines, which helps to improve the safety and reliability of transmission lines and ensures the stability of the power supply. From the traditional manual tower boarding to the current way of manually selecting target camera shooting points from 3D point clouds to plan the inspection path of the UAV, operational efficiency has drastically improved. However, indoor planning work is still labor-consuming and expensive. In this paper, a deep learning-based point cloud transmission tower segmentation (PCTTS) model combined with the corresponding target point localization algorithm is proposed for automatic segmentation of transmission tower point cloud data and automatically localizing the key inspection component as the target point for UAV inspection. First, we utilize octree sampling with unit ball normalization to simplify the data and ensure translation invariance before putting the data into the model. In the feature extraction stage, we encode the point set information and combine Euclidean distance and cosine similarity features to ensure rotational invariance. On this basis, we adopt multi-scale feature extraction, construct a local coordinate system, and introduce the offset-attention mechanism to enhance model performance further. Then, after the feature propagation module, gradual up-sampling is used to obtain the features of each point to complete the point cloud segmentation. Finally, combining the segmentation results with the target point localization algorithm completes the automatic extraction of UAV inspection target points. The method has been applied to six kinds of transmission tower point cloud data of part segmentation results and three kinds of transmission tower point cloud data of instance segmentation results. The experimental results show that the model achieves mIOU of 94.1% on the self-built part segmentation dataset and 86.9% on the self-built instance segmentation dataset, and the segmentation accuracy outperforms that of the methods for point cloud segmentation, such as PointNet++, DGCNN, Point Transformer, and PointMLP. Meanwhile, the experimental results of UAV inspection target point localization also verify the method’s effectiveness in this paper

SOX6 Downregulation Induces γ-Globin in Human β-Thalassemia Major Erythroid Cells

Background. Fetal hemoglobin (HbF; α2γ2) is a potent genetic modifier of the severity of β-thalassemia and sickle cell anemia. Differences in the levels of HbF that persist into adulthood affect the severity of sickle cell disease and the β-thalassemia syndromes. Sry type HMG box (SOX6) is a potent silencer of HbF. Here, we reactivated γ-globin expression by downregulating SOX6 to alleviate anemia in the β-thalassemia patients. Methods. SOX6 was downregulated by lentiviral RNAi (RNA interference) in K562 cell line and an in vitro culture model of human erythropoiesis in which erythroblasts are derived from the normal donor mononuclear cells (MNC) or β-thalassemia major MNC. The expression of γ-globin was analyzed by qPCR (quantitative real-time PCR) and WB (western blot). Results. Our data showed that downregulation of SOX6 induces γ-globin production in K562 cell line and human erythrocytes from normal donors and β-thalassemia major donors, without altering erythroid maturation. Conclusions. This is the first report on γ-globin induction by downregulation of SOX6 in human erythroblasts derived from β-thalassemia major

Erythropoiesis and Iron Homeostasis in Non-Transfusion-Dependent Thalassemia Patients with Extramedullary Hematopoiesis

Background. Extramedullary hematopoiesis (EMH) is common in non-transfusion-dependent thalassemia (NTDT) patients. Clinical presentations of EMH vary as MRI screening is not feasible. Hence, serum biomarkers are used to predict the risk of EMH. Materials and Methods. 52 NTDT patients, including 26 EMH (+) and 26 EMH (-), together with 26 healthy controls, were enrolled in this case-control study from 2013 to 2016. EMH was confirmed by computed tomography or MRI. Demographic, transfusion, genetic, laboratory, and liver iron concentration (LIC) data, as well as clinical complications, were analyzed. Results. EMH (+) patients had significantly higher serum ferritin (SF), growth differentiation factor 15 (GDF15), and erythropoietin (EPO) levels compared with EMH (-) patients and controls. The levels of erythroferrone (ERFE), hepcidin, and sTfR did not differ significantly between EMH (+) and EMH (-) patients (p>0.05). In NTDT patients, serum ERFE was not related to SF, LIC, hepcidin, sTfR, EPO, GDF15, and Hb levels. GDF15, EPO concentrations, and GDF15 to sTfR and GDF15 to EPO ratios are able to determine the presence of EMH with considerable sensitivity and specificity. Conclusions. GDF15, EPO, and GDF15 to EPO and GDF15 to sTfR ratios are potential biomarkers for the early prediction of NTDT in patients who are at risk for EMH

Automatic Extraction of Power Lines from Aerial Images of Unmanned Aerial Vehicles

Automatic power line extraction from aerial images of unmanned aerial vehicles is one of the key technologies of power line inspection. However, the faint power line targets and complex image backgrounds make the extraction of power lines a greater challenge. In this paper, a new power line extraction method is proposed, which has two innovative points. Innovation point one, based on the introduction of the Mask RCNN network algorithm, proposes a block extraction strategy to realize the preliminary extraction of power lines with the idea of “part first and then the whole”. This strategy globally reduces the anchor frame size, increases the proportion of power lines in the feature map, and reduces the accuracy degradation caused by the original negative anchor frames being misclassified as positive anchor frames. Innovation point two, the proposed connected domain group fitting algorithm solves the problem of broken and mis-extracted power lines even after the initial extraction and solves the problem of incomplete extraction of power lines by background texture interference. Through experiments on 60 images covering different complex image backgrounds, the performance of the proposed method far exceeds that of commonly used methods such as LSD, Yolact++, and Mask RCNN. DSCPL, TPR, precision, and accuracy are as high as 73.95, 81.75, 69.28, and 99.15, respectively, while FDR is only 30.72. The experimental results show that the proposed algorithm has good performance and can accomplish the task of power line extraction under complex image backgrounds. The algorithm in this paper solves the main problems of power line extraction and proves the feasibility of the algorithm in other scenarios. In the future, the dataset will be expanded to improve the performance of the algorithm in different scenarios