1.Molecular pathology assisted diagnosis of Dedifferentiated liposarcoma in a case and analyzed its clinical and genetic characteristics
Jingjing AO ; Feicheng YANG ; Yuzhong YANG ; Jia TIAN ; Chenjia LU ; Xiaoying LIU ; Zhe ZHANG ; Wenxiu YANG ; Chunjian MO
Chinese Journal of Medical Genetics 2025;42(6):741-746
Objective:To explore the clinical characteristics and genetic etiology of a patient with De-differentiated liposarcoma (DDLPS).Methods:A 38-year-old female patient with DDLPS who had visited Hunan Provincial People′s Hospital in January 2025 was selected as the study subject. A retrospective study method was adopted to collect the patient′s clinical data, including current and past medical history, auxiliary examinations, pathological diagnosis, and results of genetic testing. This study was approved by the Ethics Committee of Hunan Provincial People′s Hospital (Ethics No.: KY2025-150).Results:The patient had presented with abdominal pain and abdominal mass. Imaging studies revealed ascites and space-occupying abdominal lesions. Postoperative pathological examination showed that the tumor was composed of spindle cells, and its morphology and immunohistochemistry had made it difficult to distinguish between DDLPS and leiomyosarcoma. High-throughput sequencing revealed characteristic molecular alterations of DDLPS, and fluorescence in situ hybridization confirmed MDM2 gene amplification, leading to a diagnosis of DDLPS. Conclusion:The patient was diagnosed with DDLPS. Her clinical manifestations and pathological features were consistent with the characteristics of DDLPS. Molecular pathological testing played a crucial role in the diagnosis and provided a crucial reference for subsequent treatment.
2.Elevated Serum Amyloid A2 and A4 in Patients With Guillain–Barré Syndrome
Xiaoying YAO ; Baojun QIAO ; Fangzhen SHAN ; Qingqing ZHANG ; Yan SONG ; Jin SONG ; Yuzhong WANG
Journal of Clinical Neurology 2025;21(3):213-219
Background:
and Purpose Guillain–Barré syndrome (GBS) is an autoimmune-mediated disorder characterized by demyelinating or axonal injury of the peripheral nerve. Our aim is to determine whether serum amyloid A (SAA) is a biomarker of demyelinating injury and disease severity in patients with GBS.
Methods:
This study retrospectively enrolled 40 patients with either the demyelinating or axonal GBS and sex- and age-matched controls with other neurological diseases as well as healthy subjects. The demographic and clinical features at entry were collected. The serum levels of the SAA isoforms SAA1, SAA2, and SAA4 were determined in the patients with GBS and the controls using the enzyme-linked immunosorbent assay and analyzed for the associations between levels of different SAA isoforms and the clinical features of the patients.
Results:
The levels of SAA2 and SAA4 were significantly higher in patients with GBS than in both the other neurological disease controls and the healthy subjects (p<0.05 for all). The level of SAA1 did not differ between patients with GBS and the controls. The level of SAA2 was considerably higher in GBS patients with antecedent infection than in those without infection (p=0.020). The levels of different SAA isoforms were not associated with the disease severity or other clinical features of patients with GBS (p>0.05 for all).
Conclusions
Increased levels of SAA2 and SAA4 may only represent the acute inflammatory status and so cannot be utilized as biomarkers of the disease severity or demyelinating injury in patients with GBS.
3.Analysis of clinical phenotype and genetic variant in a patient with De-differentiated liposarcoma.
Jingjing AO ; Feicheng YANG ; Yuzhong YANG ; Jia TIAN ; Chenjia LU ; Xiaoying LIU ; Zhe ZHANG ; Wenxiu YANG ; Chunjian MO
Chinese Journal of Medical Genetics 2025;42(6):741-746
OBJECTIVE:
To explore the clinical characteristics and genetic etiology of a patient with De-differentiated liposarcoma (DDLPS).
METHODS:
A 38-year-old female patient with DDLPS who had visited Hunan Provincial People's Hospital in January 2025 was selected as the study subject. A retrospective study method was adopted to collect the patient's clinical data, including current and past medical history, auxiliary examinations, pathological diagnosis, and results of genetic testing. This study was approved by the Ethics Committee of Hunan Provincial People's Hospital (Ethics No.: KY2025-150).
RESULTS:
The patient had presented with abdominal pain and abdominal mass. Imaging studies revealed ascites and space-occupying abdominal lesions. Postoperative pathological examination showed that the tumor was composed of spindle cells, and its morphology and immunohistochemistry had made it difficult to distinguish between DDLPS and leiomyosarcoma. High-throughput sequencing revealed characteristic molecular alterations of DDLPS, and fluorescence in situ hybridization confirmed MDM2 gene amplification, leading to a diagnosis of DDLPS.
CONCLUSION
The patient was diagnosed with DDLPS. Her clinical manifestations and pathological features were consistent with the characteristics of DDLPS. Molecular pathological testing played a crucial role in the diagnosis and provided a crucial reference for subsequent treatment.
Humans
;
Female
;
Adult
;
Liposarcoma/diagnosis*
;
Phenotype
;
Proto-Oncogene Proteins c-mdm2/genetics*
4.Elevated Serum Amyloid A2 and A4 in Patients With Guillain–Barré Syndrome
Xiaoying YAO ; Baojun QIAO ; Fangzhen SHAN ; Qingqing ZHANG ; Yan SONG ; Jin SONG ; Yuzhong WANG
Journal of Clinical Neurology 2025;21(3):213-219
Background:
and Purpose Guillain–Barré syndrome (GBS) is an autoimmune-mediated disorder characterized by demyelinating or axonal injury of the peripheral nerve. Our aim is to determine whether serum amyloid A (SAA) is a biomarker of demyelinating injury and disease severity in patients with GBS.
Methods:
This study retrospectively enrolled 40 patients with either the demyelinating or axonal GBS and sex- and age-matched controls with other neurological diseases as well as healthy subjects. The demographic and clinical features at entry were collected. The serum levels of the SAA isoforms SAA1, SAA2, and SAA4 were determined in the patients with GBS and the controls using the enzyme-linked immunosorbent assay and analyzed for the associations between levels of different SAA isoforms and the clinical features of the patients.
Results:
The levels of SAA2 and SAA4 were significantly higher in patients with GBS than in both the other neurological disease controls and the healthy subjects (p<0.05 for all). The level of SAA1 did not differ between patients with GBS and the controls. The level of SAA2 was considerably higher in GBS patients with antecedent infection than in those without infection (p=0.020). The levels of different SAA isoforms were not associated with the disease severity or other clinical features of patients with GBS (p>0.05 for all).
Conclusions
Increased levels of SAA2 and SAA4 may only represent the acute inflammatory status and so cannot be utilized as biomarkers of the disease severity or demyelinating injury in patients with GBS.
5.Elevated Serum Amyloid A2 and A4 in Patients With Guillain–Barré Syndrome
Xiaoying YAO ; Baojun QIAO ; Fangzhen SHAN ; Qingqing ZHANG ; Yan SONG ; Jin SONG ; Yuzhong WANG
Journal of Clinical Neurology 2025;21(3):213-219
Background:
and Purpose Guillain–Barré syndrome (GBS) is an autoimmune-mediated disorder characterized by demyelinating or axonal injury of the peripheral nerve. Our aim is to determine whether serum amyloid A (SAA) is a biomarker of demyelinating injury and disease severity in patients with GBS.
Methods:
This study retrospectively enrolled 40 patients with either the demyelinating or axonal GBS and sex- and age-matched controls with other neurological diseases as well as healthy subjects. The demographic and clinical features at entry were collected. The serum levels of the SAA isoforms SAA1, SAA2, and SAA4 were determined in the patients with GBS and the controls using the enzyme-linked immunosorbent assay and analyzed for the associations between levels of different SAA isoforms and the clinical features of the patients.
Results:
The levels of SAA2 and SAA4 were significantly higher in patients with GBS than in both the other neurological disease controls and the healthy subjects (p<0.05 for all). The level of SAA1 did not differ between patients with GBS and the controls. The level of SAA2 was considerably higher in GBS patients with antecedent infection than in those without infection (p=0.020). The levels of different SAA isoforms were not associated with the disease severity or other clinical features of patients with GBS (p>0.05 for all).
Conclusions
Increased levels of SAA2 and SAA4 may only represent the acute inflammatory status and so cannot be utilized as biomarkers of the disease severity or demyelinating injury in patients with GBS.
6.Molecular pathology assisted diagnosis of Dedifferentiated liposarcoma in a case and analyzed its clinical and genetic characteristics
Jingjing AO ; Feicheng YANG ; Yuzhong YANG ; Jia TIAN ; Chenjia LU ; Xiaoying LIU ; Zhe ZHANG ; Wenxiu YANG ; Chunjian MO
Chinese Journal of Medical Genetics 2025;42(6):741-746
Objective:To explore the clinical characteristics and genetic etiology of a patient with De-differentiated liposarcoma (DDLPS).Methods:A 38-year-old female patient with DDLPS who had visited Hunan Provincial People′s Hospital in January 2025 was selected as the study subject. A retrospective study method was adopted to collect the patient′s clinical data, including current and past medical history, auxiliary examinations, pathological diagnosis, and results of genetic testing. This study was approved by the Ethics Committee of Hunan Provincial People′s Hospital (Ethics No.: KY2025-150).Results:The patient had presented with abdominal pain and abdominal mass. Imaging studies revealed ascites and space-occupying abdominal lesions. Postoperative pathological examination showed that the tumor was composed of spindle cells, and its morphology and immunohistochemistry had made it difficult to distinguish between DDLPS and leiomyosarcoma. High-throughput sequencing revealed characteristic molecular alterations of DDLPS, and fluorescence in situ hybridization confirmed MDM2 gene amplification, leading to a diagnosis of DDLPS. Conclusion:The patient was diagnosed with DDLPS. Her clinical manifestations and pathological features were consistent with the characteristics of DDLPS. Molecular pathological testing played a crucial role in the diagnosis and provided a crucial reference for subsequent treatment.
7.Brain abscess caused by Staphylococcus caprae: a case report
Qinghua XUE ; Lili ZHANG ; Yuzhong WANG
Chinese Journal of Neurology 2024;57(12):1367-1370
StaphyIococcus caprae is a coagulase-negative staphylococcus which has been originally isolated from goat and has been recognized as an important nosocomial pathogen. A patient with small B-cell lymphoma diagnosed with a brain abscess caused by Staphylococcus caprae infection was described in this paper. His prognosis was still poor after active treatment with meropenem, vancomycin and linezolid. The clinical characteristics of this patient and discussion of the possible pathogenesis were summarized, so as to provide information for clinicians′ understanding of Staphylococcus caprae infection.
8.Establishment of a Method for Galvanic Vestibular Stimulation-vestibular Evoked Myogenic Potentials in Healthy Children
Zichen CHEN ; Juan HU ; Feiyun CHEN ; Hui YANG ; Yanfei CHEN ; Tingting XUE ; Fangyuan YANG ; Yuzhong ZHANG ; Qiong WU ; Yulian JIN ; Xiaoyong REN ; Qing ZHANG
Journal of Audiology and Speech Pathology 2024;32(2):100-106
Objective To establish the methods of galvanic vestibular stimulation-vestibular evoked myogenic potentials(GVS-VEMPs)in healthy children and to obtain the normal value of GVS-cVEMP and GVS-oVEMP in these children in China.Methods Twenty(3~14 years)healthy children and 24 healthy adults(18~30 years)were enrolled for conventional examinations of GVS-cVEMP and GVS-oVEMP.Using the galvanic stimulation in-tensity under 3 mA/1 ms for children and 5 mA/1 ms for adults.The characteristics of elicitation and parameter re-sults of GVS-cVEMP and GVS-oVEMP in children and adults,as well as the pain scores and the elicitation of differ-ent stimulus intensities in the two age groups were recorded.Results The elicitation of GVS-cVEMP and GVS-oVEMP were both 100.0%in children and adult groups.The p1 latency,n1 latency and p1-n1 interval latency of GVS-cVEMP were 10.46±1.84 ms,16.98±2.12 ms and 6.52±1.42 ms respectively in children group,the n1 la-tency and p1-n1 interval latency were significantly shorter than the adult group(P<0.05).The n1 latency,p1 la-tency and p1-n1 interval latency of GVS-oVEMP were 8.87±1.40 ms,12.25±1.80 ms and 3.39±1.07 ms re-spectively in children group with no significant difference between the two groups.The thresholds of GVS-cVEMP and GVS-oVEMP in children group were significantly lower than adult group(P<0.01),but no differences were found in adult group regarding on the amplitude and interaural amplitude asymmetry ratio.In addition,with the in-crease of the intensity of galvanic stimulation,the correlation between pain scores and the elicitation rates of GVS-cVEMP and GVS-oVEMP also increased.Conclusion Using appropriate stimulus intensity and recording methods,GVS-cVEMP and GVS-oVEMP could be successfully assessed and detected in healthy children over 3 years old and adolescents.The latency of GVS-cVEMP in children is slightly shorter than that in adults,therefore we recommend selecting the matched age group for assessment in the children group.
10.Combined central and peripheral demyelination after varicella-zoster virus infection: a case report
Lili ZHANG ; Menghan HU ; Min WANG ; Xungang FENG ; Yuzhong WANG
Chinese Journal of Neurology 2023;56(4):434-437
Combined central and peripheral demyelination (CCPD) is a rare autoimmune disease and its action mechanism remains unknown. This article described a case of CCPD with anti-neurofascin 155 IgG4 antibodies after varicella-zoster virus (VZV) infection who was recovered after steroids and intravenous immunoglobulin treatments. The clinical characteristics of this patient were summarized and the possible pathogenesis was discussed, so as to provide information of CCPD after VZV infection for clinicians.

Result Analysis
Print
Save
E-mail