1.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*
2. Correlation analysis between Dx-pH monitoring and proton pump inhibitor test in the diagnosis of laryngopharyngeal reflux disease
Zhiling CHEN ; Huawei WU ; Xianwei MEI ; Wenhua YIN ; Shiying XU ; Suqin LIU ; Yanchun CHEN ; Gan WANG ; Chenjia ZHANG ; Xiaolong DING ; Jiani WU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2020;55(1):34-39
Objective:
The consistency of 24-hour oropharyngeal Dx-pH monitoring and proton pump inhibitor(PPI) test in the diagnosis of laryngopharyngeal reflux disease (LPRD) was investigated.
Methods:
Sixty patients with laryngopharyngeal reflux (LPR) related symptoms who had never received PPI treatment were assessed by reflux symptom index (RSI) and reflux finding score (RFS) between October 2017 and October 2018, including 28 males and 38 females, aged from 16 to 72 years, with a medium age of 38 years. Prior to treatment, all patients were evaluated with 24 hours oropharyngeal Dx-pH monitoring(Restech). After empiric therapy with PPI twice-daily for 8 weeks, the efficacy was evaluated according to posttreatment RSI score.The data was analysed with Kruskal-Wallis test, Student Newman Keuls test and consistency check.
Results:
(1)Among all 60 patients,13 patients (21.7%) had pathologic Ryan score and all resulted responsive to PPI;27 patients (45.0%) with a negative Ryan score were unresponsive to PPI; 20 patients (33.3%) despite a negative Ryan score resulted responsive to PPI therapy. Considering responsiveness to PPI therapy as the gold standard for the diagnosis of LPRD, the sensitivity, specificity, positive predictive value and negative predictive value of Ryan score were 39.4%, 100%, 100% and 57.4% respectively. The Kappa value was 0.369 (
3.Correlation between profile of SCL-90 and personality (EPQ) of patients with stroke
Qingyuan ZHANG ; Chenjia LI ; Yijun LIN ; Yaoguang WANG ; Jianping HUANG
Chinese Journal of Rehabilitation Theory and Practice 2005;11(9):701-702
: ObjectiveTo study the correlation between mental status and personality of patients with stroke. Methods103 patients with stroke were surveyed by Symptom Checklist 90 (SCL-90) and Eysenck Personality Questionnaire (EPQ). ResultsThe scores of 7 factors which include total scores, somatisation, compulsion, depression, anxiety, panic and psychosis in SCL-90 were higher than norm, but the inter-personal sensitivity was lower. The scores of neuroticism (N) in EPQ were higher than the domestic norm(P<0.05),the scores of extra-introversion (E) and psychoticism (P) in EPQ were lower than the domestic norm(P<0.05); The N of EPQ was positively correlated with all factors of SCL-90, the E was positively correlated with hostility and paranoia factor, and the P was positively correlated with paranoia factor. ConclusionThe mental status of patient with stroke in acute period was poor. The character of neuroticism and introversion may be its personality background.


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