Objective:To investigate two cases of rare pathogenic genes,initiation codon mutations in HBA2 gene,combined with Southeast Asian deletion and their family members to understand the relationship of HBA2:c.2T＞C and HBA2:c.2delT mutations with clinical phenotype.Methods:The peripheral blood of family members was obtained for blood cell analysis and capillary electrophoresis hemoglobin analysis.Gap-PCR and reverse dot blotting(RDB)were used to detect common types of mutations in α-thalassaemia gene.Sanger sequencing was used to analyze HBA1 and HBA2 gene sequence.Results:Two proband genotypes were identified as--SEA/αα with HBA2:c.2T＞C and--SEA/αα with HBA2:c.2delT.HBA2:c.2T＞C/WT and HBA2:c.2delT/WT was detected in family members.They all presented with microcytic hypochromic anemia.Conclusion:When HBA2:c.2T＞C and HBA2:c.2delT are heterozygous that can lead to static α-thalassemia phenotype,and when combined with mild α-thalassemia,they can lead to the clinical manifestations of hemoglobin H disease.This study provides a basis for genetic counseling.

Traumatic supraorbital fissure syndrome (TSOFS) is a symptom complex caused by nerve entrapment in the supraorbital fissure after skull base trauma. If the compressed cranial nerve in the supraorbital fissure is not decompressed surgically, ptosis, diplopia and eye movement disorder may exist for a long time and seriously affect the patients′ quality of life. Since its overall incidence is not high, it is not familiarized with the majority of neurosurgeons and some TSOFS may be complicated with skull base vascular injury. If the supraorbital fissure surgery is performed without treatment of vascular injury, it may cause massive hemorrhage, and disability and even life-threatening in severe cases. At present, there is no consensus or guideline on the diagnosis and treatment of TSOFS that can be referred to both domestically and internationally. To improve the understanding of TSOFS among clinical physicians and establish standardized diagnosis and treatment plans, the Skull Base Trauma Group of the Neurorepair Professional Committee of the Chinese Medical Doctor Association, Neurotrauma Group of the Neurosurgery Branch of the Chinese Medical Association, Neurotrauma Group of the Traumatology Branch of the Chinese Medical Association, and Editorial Committee of Chinese Journal of Trauma organized relevant experts to formulate Chinese expert consensus on the diagnosis and treatment of traumatic supraorbital fissure syndrome ( version 2024) based on evidence of evidence-based medicine and clinical experience of diagnosis and treatment. This consensus puts forward 12 recommendations on the diagnosis, classification, treatment, efficacy evaluation and follow-up of TSOFS, aiming to provide references for neurosurgeons from hospitals of all levels to standardize the diagnosis and treatment of TSOFS.

Objective:To investigate the change of collagen fibers in locally recurrent esophageal squamous cell carcinoma after radical chemoradiotherapy and the discrepancy of adverse effects and survival outcomes among groups with different salvage treatments, provide references for the options of salvage therapy.Methods:Medical records of 137 patients with esophageal squamous cell carcinoma who received radical chemoradiotherapy and had local recurrence admitted to Cancer Center of Renmin Hospital of Wuhan University from January 2015 to September 2022 were retrospectively collected. The expression of collagen fibers in paraffin samples of cases with different recurrence time was determined by Masson staining, and the differences of the average optical density were calculated. According to the salvage treatment after local recurrence, all cases were divided into the salvage surgery group, second-course chemoradiotherapy group and immunochemotherapy group. The differences of survival outcomes and incidence rates of esophageal tracheal fistula, hemorrhage, pericardial effusion, radiation pneumonitis, radiation esophagitis were analyzed among the three groups. The differences of survival rates were analyzed by Kaplan-Meier method and compared by log-rank test among groups.Results:The expression of collagen fibers in recurrent esophageal squamous cell carcinoma was significantly higher than that in primary esophageal squamous cell carcinoma. Collagen fiber expression was gradually down-regulated with the prolongation of recurrence time. The expression of collagen fibers in recurrent cases after 7 years was similar to that of primary esophageal squamous cell carcinoma. The 1-, 2- and 3-year survival rates of patients in the salvage surgery group, the second-course chemoradiotherapy group and the immunochemotherapy group were 47%, 30%, 20%; 50%, 27%, 15% and 72.5%, 50%, 50%, respectively; Immunochemotherapy was more effective in salvage treatment for recurrent esophageal squamous cell carcinoma, but there was no statistical difference.Conclusions:Collagen fibers are abundant in recurrent esophageal squamous cell carcinoma after radical chemoradiotherapy. With prolongation of recurrent interval, the expression of collagen fibers is down-regulated. The survival outcomes of patients in the immunochemotherapy group, salvage surgery group and second-course chemoradiotherapy group were comparable.

Objective To observe the clinical effect of Dongjing Tiaoshen Comprehensive Therapy combined with computerized cognitive behavioral therapy for insomnia(CCBT-I)in the treatment of chronic insomnia patients with liver depression and spleen deficiency syndrome.Methods A total of 60 patients with chronic insomnia of liver depression and spleen deficiency type were randomly divided into observation group and control group,30 cases in each group.Both groups of patients were treated with CCBT-I as the basic treatment,the observation group was additionally treated with Dongjing Tiaoshen Comprehensive Therapy,i.e.,mind-regulating acupuncture therapy combined with regular aerobic exercises and Dantian Qigong exercises,and the control group was additionally treated with cranial electrotherapy stimulation.The course of treatment for the two groups covered 4 weeks.The changes of Pittsburgh Sleep Quality Index(PSQI)score,Self-rating Anxiety Scale(SAS)score and Self-rating Depression Scale(SDS)score in the two groups were observed before and after treatment,and the clinical efficacy of the two groups was evaluated after treatment.Results(1)After 4 weeks of treatment,the total effective rate of the observation group was 86.67%(26/30),and that of the control group was 70.00%(21/30).The intergroup comparison(tested by rank sum test)showed that the curative effect of the observation group was significantly superior to that of the control group,and the difference was statistically significant(P＜0.05).(2)After treatment,the PSQI scores of the two groups were significantly lower than those before treatment(P＜0.05),and the decrease of PSQI scores in the observation group was significantly superior to that in the control group,the difference being statistically significant(P＜0.05).(3)After treatment,the SAS and SDS scores of the two groups were significantly lower than those before treatment(P＜0.05),and the decrease of SAS and SDS scores in the observation group tended to be superior to that in the control group,but there was no significant difference between the two groups(P＞0.05).Conclusion For the treatment of chronic insomnia of liver depression and spleen deficiency type,the combination of Dongjing Tiaoshen Comprehensive Therapy with CCBT-I can significantly improve the sleep quality,relieve anxiety and depression,and improve the quality of life of the patients,which exerts significant efficacy.

OBJECTIVE: To investigate the factors related to renal impairment in patients with diabetic kidney disease (DKD) from the perspective of integrated Chinese and Western medicine. METHODS: Totally 492 patients with DKD in 8 Chinese hospitals from October 2017 to July 2019 were included. According to Kidney Disease Improving Global Outcomes (KDIGO) staging guidelines, patients were divided into a chronic kidney disease (CKD) 1-3 group and a CKD 4-5 group. Clinical data were collected, and logistic regression was used to analyze the factors related to different CKD stages in DKD patients. RESULTS: Demographically, male was a factor related to increased CKD staging in patients with DKD (OR=3.100, P=0.002). In clinical characteristics, course of diabetes >60 months (OR=3.562, P=0.010), anemia (OR=4.176, P<0.001), hyperuricemia (OR=3.352, P<0.001), massive albuminuria (OR=4.058, P=0.002), atherosclerosis (OR=2.153, P=0.007) and blood deficiency syndrome (OR=1.945, P=0.020) were factors related to increased CKD staging in patients with DKD. CONCLUSIONS Male, course of diabetes >60 months, anemia, hyperuricemia, massive proteinuria, atherosclerosis, and blood deficiency syndrome might indicate more severe degree of renal function damage in patients with DKD. (Registration No. NCT03865914).
Humans ; Male ; Diabetes Mellitus, Type 2 ; Diabetic Nephropathies ; Hyperuricemia ; Kidney ; Proteinuria ; Renal Insufficiency, Chronic/complications*

Objective:To evaluate the feasibility of predicting lung cancer target position by online optical surface motion monitoring.Methods:CT images obtained in different ways of stereotactic body radiotherapy (SBRT) plans from 16 lung cancer cases were selected for experimental simulation. The planned CT and the original target position were taken as the reference, and the 10 phases of CT in four dimension CT and each cone beam (CBCT) were taken as the floating objects, on which the floating target location was delineated. The binocular visual surface imaging method was used to obtain point cloud data of reference and floating image body surface, while the point cloud feature information was extracted for comparison. Based on the random forest algorithm, the feature information difference and the corresponding target area position difference were fitted, and an online prediction model of the target area position was constructed.Results:The model had a high prediction success rate for the target position. The variance explainded and root mean squared error ( RMSE) of left-right, superior-inferior, anterior-posterior directions were 99.76%, 99.25%, 99.58%, and 0.0447 mm, 0.0837 mm, 0.0616 mm, respectively. Conclusion:The online monitoring of lung SBRT target position proposed in this study is feasible, which can provide reference for online monitoring and verification of target position and dose evaluation in clinical radiotherapy.

Objective:To propose a markerless beam's eye view (BEV) tumor tracking algorithm, which can be applied to megavolt (MV) images with poor image quality, multi-leaf collimator (MLC) occlusion and non-rigid deformation.Methods:Window template matching, image structure transformation and demons non-rigid registration method were used to solve the registration problem in MV images. The quality assurance (QA) plan was generated in the phantom and executed after manually setting the treatment offset on the accelerator, and 682 electronic portal imaging device (EPID) images in the treatment process were collected as fixed images. Meanwhile, the digitally reconstructured radiograph (DRR) images corresponding to the field angle in the planning system were collected as floating images to verify the accuracy of the algorithm. In addition, a total of 533 images were collected from 21 cases of lung tumor treatment data for tumor tracking study, providing quantitative results of tumor location changes during treatment. Image similarity was used for third-party verification of tracking results.Results:The algorithm could cope with different degrees (10%-80%) of image missing. In the phantom verification, 86.8% of the tracking errors were less than 3 mm, and 80% were less than 2 mm. Normalized mutual information (NMI) varied from 1.182±0.026 to 1.202±0.027 ( P<0.005) before and after registration and the change of Hausdorff distance (HD) was from 57.767±6.474 to 56.664±6.733 ( P<0.005). The case results were predominantly translational (-6.0 mm to 6.2 mm), but non-rigid deformation still existed. NMI varied from 1.216±0.031 to 1.225±0.031 ( P<0.005) before and after registration and the change of HD was from 46.384±7.698 to 45.691±8.089 ( P<0.005). Conclusions:The proposed algorithm can cope with different degrees of image missing and performs well in non-rigid registration with data missing images which can be applied in different radiotherapy technologies. It provides a reference idea for processing MV images with multi-modality, partial data and poor image quality.

The condition of patients with severe traumatic brain injury (sTBI) complicated by corona virus 2019 disease (COVID-19) is complex. sTBI can significantly increase the probability of COVID-19 developing into severe or critical stage, while COVID-19 can also increase the surgical risk of sTBI and the severity of postoperative lung lesions. There are many contradictions in the treatment process, which brings difficulties to the clinical treatment of such patients. Up to now, there are few clinical studies and therapeutic norms relevant to sTBI complicated by COVID-19. In order to standardize the clinical treatment of such patients, Critical Care Medicine Branch of China International Exchange and Promotive Association for Medical and Healthcare and Editorial Board of Chinese Journal of Trauma organized relevant experts to formulate the Chinese expert consensus on clinical treatment of adult patients with severe traumatic brain injury complicated by corona virus infection 2019 ( version 2023) based on the joint prevention and control mechanism scheme of the State Council and domestic and foreign literatures on sTBI and COVID-19 in the past 3 years of the international epidemic. Fifteen recommendations focused on emergency treatment, emergency surgery and comprehensive management were put forward to provide a guidance for the diagnosis and treatment of sTBI complicated by COVID-19.

Objective: To investigate the associations between neutrophil-to-lymphocyte ratio (NLR) and estimated glomerular filtration rate (eGFR) in patients with primary aldosteronism (PA). Methods: This study was a cross-sectional study. Consecutive patients diagnosed with PA and admitted to the Second Affiliated Hospital of Nanchang University from October 2017 to April 2022 were enrolled. General information, blood routine, renal function, and other clinical data of the patients were collected. Based on the median NLR of the enrolled patients, NLR-1·1.73 m^-2. Multiple linear regression and multivariate logistic regression models, smooth curve fitting and threshold effect exploration were used to analyze the relationship between NLR and eGFR in PA patients, and stratified analysis and interaction tests were used to evaluate potential variables that may affect the correlation between NLR and eGFR. Results: This study finally included 743 PA patients, aged (50.3±10.4) years, 42.9% (319/743) were female, and the median NLR was 2.3. After adjusting for sex, age, body mass index (BMI) and other factors, multiple linear regression analysis showed that high NLR was negatively correlated with eGFR (β=-4.9, P=0.008), and multivariate logistic regression analysis showed that high NLR was associated with low eGFR (OR=3.1, P=0.002). In the corrected smooth curve, NLR is U-shaped correlation with eGFR, and the inflection point is at NLR=3.5. When the NLR was<3.5, the eGFR decreased with the increase of NLR (corrected β=-4.7, P<0.001); When the NLR was≥3.5, the eGFR increased with the increase of NLR (corrected β=5.8, P=0.031). The results of stratified analysis showed that there was an interaction between the association of NLR and eGFR with the presence or absence of hyperlipidemia (P interaction=0.017), and the correlation between NLR and eGFR was stronger in PA patients with hyperlipidemia. Conclusion: In the PA patients, there is a U-shaped relationship between NLR and eGFR, and higher NLR is associated with lower eGFR. PA patients with elevated NLR should undergo additional screening for chronic kidney disease and receive related preventive interventions.
Humans ; Female ; Male ; Neutrophils ; Glomerular Filtration Rate ; Cross-Sectional Studies ; Lymphocytes ; Hyperaldosteronism/diagnosis* ; Hyperlipidemias

Objective: To investigate the associations between neutrophil-to-lymphocyte ratio (NLR) and estimated glomerular filtration rate (eGFR) in patients with primary aldosteronism (PA). Methods: This study was a cross-sectional study. Consecutive patients diagnosed with PA and admitted to the Second Affiliated Hospital of Nanchang University from October 2017 to April 2022 were enrolled. General information, blood routine, renal function, and other clinical data of the patients were collected. Based on the median NLR of the enrolled patients, NLR-1·1.73 m^-2. Multiple linear regression and multivariate logistic regression models, smooth curve fitting and threshold effect exploration were used to analyze the relationship between NLR and eGFR in PA patients, and stratified analysis and interaction tests were used to evaluate potential variables that may affect the correlation between NLR and eGFR. Results: This study finally included 743 PA patients, aged (50.3±10.4) years, 42.9% (319/743) were female, and the median NLR was 2.3. After adjusting for sex, age, body mass index (BMI) and other factors, multiple linear regression analysis showed that high NLR was negatively correlated with eGFR (β=-4.9, P=0.008), and multivariate logistic regression analysis showed that high NLR was associated with low eGFR (OR=3.1, P=0.002). In the corrected smooth curve, NLR is U-shaped correlation with eGFR, and the inflection point is at NLR=3.5. When the NLR was<3.5, the eGFR decreased with the increase of NLR (corrected β=-4.7, P<0.001); When the NLR was≥3.5, the eGFR increased with the increase of NLR (corrected β=5.8, P=0.031). The results of stratified analysis showed that there was an interaction between the association of NLR and eGFR with the presence or absence of hyperlipidemia (P interaction=0.017), and the correlation between NLR and eGFR was stronger in PA patients with hyperlipidemia. Conclusion: In the PA patients, there is a U-shaped relationship between NLR and eGFR, and higher NLR is associated with lower eGFR. PA patients with elevated NLR should undergo additional screening for chronic kidney disease and receive related preventive interventions.
Humans ; Female ; Male ; Neutrophils ; Glomerular Filtration Rate ; Cross-Sectional Studies ; Lymphocytes ; Hyperaldosteronism/diagnosis* ; Hyperlipidemias