1.Three-dimensional videonystagmography characteristics in patients with benign paroxysmal positional vertigo
Yujin ZHENG ; Keguang CHEN ; Kanglun JIANG ; Feng XU ; Ying QI ; Xinsheng HUANG ; Huaili JIANG
Chinese Journal of Clinical Medicine 2025;32(2):177-182
Objective To analyze the characteristics of nystagmus during the Dix-Hallpike and Roll tests in patients with benign paroxysmal positional vertigo (BPPV) using three-dimensional videonystagmography (3D-VNG), in order to to optimize diagnostic and therapeutic strategies of BPPV. Methods A retrospective analysis was conducted on 68 patients with posterior semicircular canal (PSC)-BPPV and 26 patients with horizontal semicircular canal (HSC)-BPPV. Nystagmus data obtained from 3D-VNG were reviewed for all patients, with a focus on the eye movement components during the Dix-Hallpike test in PSC-BPPV patients and the Roll test in HSC-BPPV patients. The direction and reversal rates of the vertical, horizontal, and torsional components were recorded and analyzed. Results All PSC-BPPV patients exhibited highly consistent three-dimensional nystagmus characteristics during the Dix-Hallpike test: vertical nystagmus was uniformly upward, torsional nystagmus was predominantly clockwise in left-side BPPV patients (17/23) and counterclockwise in right-side BPPV patients (44/45), while the horizontal component was mostly directed contralaterally (50/68); upon transitioning from the head-hanging to the sit-up position, vertical nystagmus components in all patients reversed, and torsional and horizontal nystagmus components reversed in approximately 50.0% or more patients. Among HSC-BPPV patients, right-side BPPV patients all showed right-beating (geotropic) horizontal nystagmus with predominantly upward vertical component (16/19), while most left-side BPPV patients showed left-beating horizontal nystagmus (6/7) with predominantly downward vertical component (6/7). During head rotation toward the healthy side, most (25/26) HSC-BPPV patients exhibited a reversal in the horizontal nystagmus direction, reduced intensity compared to the affected side, with a reversal in vertical components in 3 patients, and atypical torsional components. Conclusions 3D-VNG could precisely quantitative analyze three-dimensional features of nystagmus in BPPV patients, improve diagnostic accuracy in canal and side localization, particularly in PSC-BPPV patients.
2.Advances in the treatment of spinal muscular atrophy
International Journal of Pediatrics 2024;51(2):119-123
Spinal muscular atrophy(SMA),an autosomal recessive genetic disease characterized by progressive weakness and atrophy of the proximal limbs caused by degeneration of motor neurons in the anterior horn of the spinal cord,can affect multiple systems such as respiratory,digestive,and skeletal systems. Untreated children with severe type 1 SMA usually die within 2 years of age. In recent years,the treatment of SMA has developed rapidly,and a variety of drugs have been approved to benefit patients. However,none of the existing therapeutic drugs or regimens can achieve a complete cure. Therefore,the combination of different therapeutic drugs and the research and development of new drugs may be the way forward for the treatment of SMA. The latest progress of therapeutic drugs and combination therapy in SMA are summarized in this review,which may be helpful for guiding the treatment of SMA.
3.Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy
Wenchen HUANG ; Jinli BAI ; Hong WANG ; Yuwei JIN ; Xiaoyin PENG ; Xiushan GE ; Hui JIAO ; Yujin QU ; Fang SONG
Chinese Journal of Medical Genetics 2024;41(10):1187-1194
Objective:To explore the characteristics of SMN1 gene variants and carry out functional verification for two children with Spinal muscular atrophy (SMA). Methods:Two male children with complicated SMA diagnosed at the Children′s Hospital Affiliated to Capital Institute of Pediatrics respectively in July 2021 and April 2022 due to delayed or retrograde motor development were selected as the study subjects. Clinical data of the children were collected. Primary culture of skin fibroblasts was carried out, and peripheral blood samples were collected from both children and their parents. Multiplex ligation-dependent probe amplification, combined long-range PCR and nested PCR, and Sanger sequencing were carried out to detect the copy number and variants of the SMN1 gene. Absolute quantitative real-time PCR, Western blotting and immunofluorescence were used to determine the transcriptional level of the SMN gene, expression of the SMN protein, and the number of functional SMN protein complexes (gems body), respectively. This study was approved by Medical Ethics Committee of the Children′s Hospital Affiliated to Capital Institute of Pediatrics (Ethics No. SHERLLM2021009). Results:Child 1, a 1-year-old boy, was clinically diagnosed with type 1 SMA. Child 2, a 2-and-a-half-year-old boy, was clinically diagnosed with type 3 SMA. Both children were found to harbor a paternally derived SMN1 deletion and a maternally derived SMN1 gene variant, namely c. 824G>T (p.Gly275Val) and c. 884A>T (p.*295Leu). Compared with the normal controls and carriers, the levels of full-length SMN1 transcripts in their peripheral blood and skin fibroblast cell lines were significantly decreased ( P<0.05), and the levels of SMN protein normalized to that of β-actin, and the numbers of gems bodies in the primary fibroblast cells were also significantly lower ( P<0.05). Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were classified as likely pathogenic (PS3+ PM3+ PM5+ PP3; PS3+ PM3+ PM4+ PP3). Following the diagnosis, both children had received nusinersen treatment. Although their motor function was improved, child 1 still died at the age of 2 due to severe pulmonary infection. The walking ability of child 2 was significantly improved, and his prognosis appeared to be good. Conclusion:Two cases of clinically complicated SMA have been confirmed by genetic testing and experimental studies, which has provided a reference for their accurate treatment.
4.Research Progress of Comprehensive Follow-up Management Strategy on the Natural History of Simultaneous,Persistent Multiple Pulmonary Ground-glass Nodules
HUANG CHENGMING ; ZHOU YONGZHAO ; FANG YUJIN ; LIU YANYANG ; WANG LI ; ZHUO YU ; ZHU DAXING
Chinese Journal of Lung Cancer 2024;27(9):691-696
The development and change patterns as well as the disease course management of multiple ground-glass nodules(GGNs)in the lungs are currently hotspots and difficulties in clinical lung cancer research.Understanding the latest advancements in the natural history of multiple GGNs is crucial for grasping the disease variation patterns and formulat-ing management strategies.Meanwhile,utilizing advanced methods such as intelligent follow-up management platforms makes the long-term standardized management of GGNs possible.Therefore,this article provides an overview of the latest research advancements on the natural history of multiple GGNs and new experience in GGNs management.
5.Influences of the copy number of SMN2 and transcript level of fl-SMN2 on the phenotype and survival of spinal muscular atrophy
Shijia OUYANG ; Jinli BAI ; Yuwei JIN ; Hong WANG ; Wenchen HUANG ; Xiaoyin PENG ; Xiushan GE ; Hui JIAO ; Yujin QU ; Fang SONG
Chinese Journal of Applied Clinical Pediatrics 2023;38(11):863-868
Objective:To explore the distribution of the copy number of survival motor neuron gene 2 ( SMN2) and the transcript level of the full-length SMN2 ( fl-SMN2) transcript level in patients with type 1-3 spinal muscular atrophy (SMA), and to evaluate their influences on disease severity, progression, and prognosis. Methods:It was a retrospective study involving 78 therapy-naive SMA patients with SMN1 gene homozygous deletion who were diagnosed and treated in the Capital Institute of Pediatrics from January 2019 to December 2021.Cross-sectional clinical data, including age at onset, motor milestones, and complications were recorded.They were followed up for monitoring motor function degeneration and survival.The copy number of SMN2 and the transcript level of fl-SMN2 were detected.Differences between groups were compared by the Student′s t-test or One- Way ANOVA or Chi- square test.Kaplan-Meier analysis was used for survival analysis, and Kendall′ s tau- c was performed to assess the correlation of these two biomarkers with SMA phenotypes, age at onset, motor milestones, and survival. Results:Of the 78 SMA patients, there were 17 cases (21.8%) of type 1, 34 cases(43.6%) of type 2, and 27 cases(34.6%) of type 3.Seven cases(41.2%) type 1 SMA patients died, with a median survival time of 11 months, and no deaths were observed in type 2 and type 3 SMA patients.There was a significant difference in the median age at onset among SMA patients with 2, 3, and 4 copies of SMN2 (1.8, 12.0, and 24.0 months, respectively; F=4.943, P=0.01). The mean transcript level of fl-SMN2 in type 1, 2 and 3 SMA patients were 196.25±68.79, 331.21±108.79 and 455.69±122.27, respectively ( F=37.154, P<0.001). The survival rate of SMA with 2 SMN2 copies at 1, 2, and 5 years were 50.5%, 0, and 0, respectively, and their median survival age was 7 months.The survival rate of SMA with 3 and 4 SMN2 copies at 5 years were 97.4% and 100.0%, respectively.Moreover, a negative correlation was observed between the transcript level of fl-SMN2 and phenotype severity ( Kendall′ s tau- c=-0.444, P<0.001), and the transcript level of fl-SMN2 of the survival group was much higher than that of the death group (342.93±125.74 vs.212.14±92.31). More copies of SMN2 and higher transcript level of fl- SMN2 indicated more motor function acquisitions (head control, sitting and walking) ( P<0.001). In addition, there was a significant difference in the transcription level of fl-SMN2 between the undegenerated group and the degenerated group in sitting and standing ( F=5.432, P=0.023 and F=4.315, P=0.047, respectively). Conclusions:Both the copy number of SMN2 and the transcript level of fl-SMN2 are correlated with SMA severity, survival, and motor milestones, serving as valuable biomarkers for evaluating phenotypic severity of SMA.The transcript level of fl-SMN2 s may play an important role in the degeneration of sitting and standing.
6.Effects of auranofin on the activity of ovarian cancer cells and its molecular mechanisms
Yanya Chen ; Lishan Huang ; Jinlan Zhao ; Peixin Yuan ; Yujin Ye ; Zhongjun Li
Acta Universitatis Medicinalis Anhui 2023;58(4):541-546
Objective:
To explore the activity of auranofin against ovarian cancer cells and its possible molecular mechanism.
Methods :
The dose-response survival curve and IC50 of auranofin on ovarian cancer cell lines ,SKOV3,Caov3 and SW626 cells and immortalized normal human embryonic kidney HEK-293T cells were determined by CCK-8 method.Cell cycle was determined by flow cytometry.The levels of total glutathione ( GSH) ,reduced GSH and glutathione disulfide ( GSSG) ,thioredoxin reductase (TrxR) and reactive oxygen species (ROS) in cells were determined by microplate reader,and the reduced GSH / GSSG ratio was calculated.Western blot was used to determine the expression of cyclin dependent kinases( CDK) 4,CDK6,Cyclin D1,P53,p-P53 and MDM2 in SKOV3 and Caov3 ovarian cancer cells.
Results :
Compared with HEK-293T cells,the dose-response survival curves and IC50 values of SKOV3,Caov3 and SW626 cells showed that ovarian cancer cells were more sensitive to auranofin (P<0. 05) .After SKOV3 and Caov3 cells were treated with the dose of respective IC50 concentrations of auranofin,compared with the untreated cells group,the Auranofin IC50 group cells' intracellular levels of GSH,the ratio of reduced GSH / GSSG and the activity of TrxR decreased (t = 25. 11 /31. 18,14. 72 /19. 92,43. 30 /10. 74, all P<0. 05) ,and the levels of ROS increased (t = 23. 82 /27. 71,P<0. 05) ; cells number at G0 / G1 phases increased,with cells number at S and G2 phases decreased (P<0. 05) ; and the expression levels of cell cycle-related proteins CDK4,CDK6,Cyclin D1 and the P53-specific E3 ubiquitin ligase MDM2 were down-regulated (t = 7. 51 /15. 59,17. 32 /11. 26,20. 78 /20. 78,24. 25 /17. 32,all P<0. 05) ,while the expression levels of P53 and p-P53 were up-regulated (t = 17. 32 /24. 25,12. 12 /10. 39,all P <0. 05) .
Conclusion
Auranofin causes oxidative stress in ovarian cancer cells by inhibiting TrxR activity,and by partially degrading MDM2 to stabilize and acti- vate P53,so as to block the cancer cells in G0 / G1 phase,and exert anti-ovarian cancer activities.
7.Advances and challenges in clinical research on hepatic hydrothorax
Bo MA ; Tianling SHANG ; Jianjie HUANG ; Zhixin TU ; Yan WANG ; Yujin HAN ; Xiaoyu WEN ; Qinglong JIN
Journal of Clinical Hepatology 2022;38(2):452-456
Hepatic hydrothorax (HH) is a challenging complication of liver cirrhosis associated with portal hypertension, and its pathogenesis and therapeutic measures remain unknown. This article summarizes and reviews the advances and challenges in the research on the pathogenesis, clinical manifestations, diagnosis, and treatment of HH and proposes a multidisciplinary treatment strategy, including reducing the production of ascites, preventing effusion from entering the thoracic cavity, removing pleural effusion, occluding the pleural cavity, and performing liver transplantation, so as to provide a reference for more clinicians.
8.Hepatitis C combined with diffuse large B-cell lymphoma: A case report
Zhixin TU ; Jianjie HUANG ; Yan WANG ; Bo MA ; Yujin HAN ; Liang GUO ; Xiaoyu WEN ; Qinglong JIN
Journal of Clinical Hepatology 2022;38(10):2334-2336
9.Investigation of rumination level and its influential factors among psychiatry nurses who go through work place violence
Hongxing LI ; Jiawei HUANG ; Yongmei ZHOU ; Jiankui LIN ; Xiaodan LU ; Yujin HU ; Guofen CHEN ; Shiyuan KUANG
Chinese Journal of Practical Nursing 2021;37(3):161-167
Objective:To investigate the level of rumination and its influential factors among Chinese psychiatry nurses who go through work place violence.Methods:In this study, 150 psychiatry nurses were recruited from Affiliated Brain Hospital of Guangzhou Medical University (specialize in psychiatry), via the combination of convenient sampling and snowball sampling. Chinese Event-related Rumination Inventory (C-ERRI) was applied in the survey.Results:The total score of C-ERRI was (22.11±9.62) points, and the scores of intrusive rumination subscale and deliberate rumination subscale were (12.99±5.58) and (9.12±6.01) points, respectively. Multiple Linear Regression Analysis show that assault frequency in recent year ( B=-3.195, P<0.01) and whether got injury in the recent assault ( B=8.591, P<0.01) were predictors of deliberate rumination, which account for 26.8% variance of the equation. Gender (male) ( B=-2.415, P<0.01), Injury frequency in recent year ( B=2.864, P<0.01) and whether got injury in the recent assault ( B=8.949, P<0.01) were predictors of intrusive rumination. They account for 36.0% variance of the equation. Conclusion:In this study, the level of rumination among Chinese psychiatry nurses was low. Their rumination style was deliberate rumination.
10.Diagnostic value of diffusion kurtosis imaging in differentiating indeterminate solitary pulmonary nodules:comparison with diffusion weighted imaging
Shuchang ZHOU ; Yujin WANG ; Lu HUANG ; Tingting ZHU ; Tao AI ; Wei WU ; Qiongjie HU ; Liming XIA
Chinese Journal of Radiology 2019;53(3):200-204
Objective To investigate the role of diffusion kurtosis imaging (DKI) in indeterminate solitary pulmonary nodules (SPN) diagnosis and to compare with conventional diffusion weighted imaging (DWI). Methods From March 2016 to Dec 2017, forty-three consecutive patients (30 male, 13 female, age: 56 ± 11 years) with indeterminate SPNs were included. All patients underwent axial multi-b factor DWI (with b values=0, 50, 200, 400, 800, 1400, 2000 s/mm2) examination and were divided into benign group (19 cases) and malignant group (24 cases) according to pathological results of SPN. ADC Kurtosis (K) and Diffusivity (Dk) values were compared between malignant and benign group and among different subtypes of lung cancer using independent t test (normal distribution and homogeneity of variance) and Mann-Whitney U test (skewed distribution or variance). Receiver operating characteristic (ROC) curves were employed to evaluate the diagnostic performance. Results K values were significantly higher for malignant SPNs than for benign SPNs (0.839 ± 0.197 vs. 0.718 ± 0.120;t=2.359, P=0.023). ADC values were found to be significantly higher in benignity than malignant SPNs [(1.605 ± 0.422) × 10-3mm2/s vs. (1.278 ± 0.210) × 10-3mm2/s; t=-3.089, P=0.005). No difference was observed in Dk between the two groups (P=0.922). All parameters cannot differentiate subtypes of lung cancer. The ADC value had higher AUC (area under ROC curve) than that of K value. The sensitivity (70.8%) and accuracy (72.1%) of ADC value was higher than K value, the specificity of both methods was equal. Conclusion DKI is a feasible non-invasive tool which has comparable capability of conventional DWI in SPNs differentiation, although with lower sensitivity and accuracy. DKI can provide additional information for SPNs characterization and has a potential to be a robust way in SPNs interpretation.


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