1.Qualitative evaluation of contrast-enhanced ultrasound for differentiation of benign and malignant thyroid nodules
Chunrui, LIU ; Pengfei, HUANG ; Yingdong, XIE ; Guo, SUN ; Li, HUANG ; Jinxia, GONG ; Fuli, TIAN ; Bin, YANG
Chinese Journal of Medical Ultrasound (Electronic Edition) 2017;14(3):220-225
Objective To explore the qualitative evaluation of contrast-enhanced ultrasound (CEUS) in the differential diagnosis between benign and malignant thyroid nodules (TNs).Methods Totally 110 outpatients with 132 TNs underwent CEUS were enrolled in this study in Jinling Hospitall Medical School of Nanjing University (Nanjing General Hospital of Nanjing Military).Nanjing General Hospital of Nanjing Military All the nodules underwent ultrasound guided fine needle aspiration biopsy (FNAB).113 TNs were histologically diagnosed,the characteristics of enhancement for each noudle were scored.The characteristicsof enhancement between benign and malignant TNs were compared by chi-square test.The receiver operating characteristic (ROC) curve analysis were conducted to determine the diagnostic values of thyroid CEUS.Results Contrast-enhanced patterns were significantly different between benign and malignant TNs in the degree,homogeneity of enhancement,enhanced ring and boundary,shape and size of the enhanced lesions (x2=23.85,P < 0.001;x2=7.43,P=0.04;x2=34.54,P < 0.001;x2=25.7,P < 0.001;x2=53.10,P < 0.001;x2=22.78,P < 0.001;x2=30.90,P < 0.001).Contrast-enhanced patterns were not significantly different between benign and malignant TNs in the process and completeness of enhancement.Malignant lesions had concentric (79.5%),inhomogeneous (89.0%) and low (71.1%) enhanced with irregular (79.5%) and unclear (64.4%) boundary and bigger size (63.0%).The typical CEUS feature of benign nodules was peripheral ring hyperenhancement (34.7%).According to ROC curve,the cut off value was 3.5 points.The area under the ROC curve (AUC) for CEUS was 0.862 (95%CI:0.797-0.927).The sensitivity,specificity and accuracy for CEUS were 80.8%,79.6%,80.3% respectively.Conclusion The pattem of CEUS may assist in differential diagnosis of benign and malignant TNs.
2.Effect of continual care on postoperative medication compliance of patients with osteoporotic vertebral compression fractures
Chunrui GUO ; Juan LONG ; Zikun DUAN ; Shengli YE ; Xue LU ; Qian FANG
Chinese Journal of Trauma 2019;35(1):44-49
Objective To investigate the effect of continual care on postoperative medication compliance of patients with osteoporotic vertebral compression fractures (OVCF) after vertebroplasty.Methods A retrospective case control study was performed to analyze the clinical data of 150 patients with OVCF who underwent vertebroplasty in Guizhou People's Hospital from January 2016 to May 2017.There were 38 males and 112 females,aged 47-88 years,with an average of 67.5 years.Seventy-five patients were given continual care such as telephone follow-up and home visit (continual care group).Seventy-five patients were given routine health education (routine care group) when they were discharged from hospital.Visual analogue scale (VAS) and Oswestry dysfunction index (ODI) before operation,1 day,1,3,6 and 12 months after operation,as well as medication compliance and vertebral re-fracture at 1,3,6 and 12 months after operation were compared between the two groups.Results The preoperative VAS of the routine care group was 6 (6-7),1 (0-1),1 (1-3),2 (1-3) and 3 (2-5) points at 1 day and 1,3,6 and 12 months after operation,respectively.The preoperative ODI was 21 (18-27),0 (0-0),2 (1-4),5 (3-7),7 (5-10),10 (7-14) points at 1 day,1,3,6 and 12 months after operation.In the continual care group,VAS was 7 (6-7) points before operation,0 (0-1),1 (0-1),1 (0-2) and 2 (1-3) points at 1 day,1,3,6 and 12 months after operation,respectively.ODI of the continual care group was 18 (22-28) points before operation,0 (0-1),2 (0-4),4 (1-5),4 (3-6) and 6 (4-9) at 1 day,1,3,6 and 12 months after operation.The VAS and ODI of the two groups were lower than those before operation,and the scores of the continual care group were lower than those of the routine care group at 1,3,6 and 12 months after operation (P < 0.05).The medication compliance rates of continual care group were 93%,89%,91% and 84% at 1,3,6 and 12 months after operation,while those of routine care group were 44%,40%,47% and 40% respectively (P <0.05).The incidence of vertebral re-fracture was 1%,1%,3% and 3% in continual care group and 3%,5%,5% and 7% in routine care group at 1,3,6 and 12 months after operation respectively (P < 0.05).Conclusion Continual care can improve the medication compliance of OVCF patients after treatment with vertebroplasty,relieve pain,improve the quality of life,and reduce the incidence of vertebral re-fracture,which is worthy of clinical promotion.
3.A case of dilated cardiomyopathy caused by FHL2 gene variant and a literature review.
Chunrui YU ; Lijuan JIA ; Chanjuan HAO ; Bianjing ZUO ; Wei LI ; Fangjie WANG ; Jun GUO
Chinese Journal of Medical Genetics 2023;40(3):337-343
OBJECTIVE:
To explore the clinical phenotype and genetic features of a child with dilated cardiomyopathy (DCM).
METHODS:
Clinical data of the child who had presented at the Zhengzhou Children's Hospital on April 28, 2020 was collected. Trio-whole exome sequencing (trio-WES) was carried out for the child and her parents, and candidate variants were validated by Sanger sequencing. "FHL2" was taken as the key word to retrieve related literature from January 1, 1997 to October 31, 2021 in the PubMed database and was also searched in the ClinVar database as a supplement to analyze the correlation between genetic variants and clinical features.
RESULTS:
The patient was a 5-month-old female infant presented with left ventricular enlargement and reduced systolic function. A heterozygous missense variant c.391C>T (p.Arg131Cys) in FHL2 gene was identified through trio-WES. The same variant was not detected in either of her parents. A total of 10 patients with FHL2 gene variants have been reported in the literature, 6 of them had presented with DCM, 2 with hypertrophic cardiomyopathy (HCM), and 2 with sudden unexplained death (SUD). Phenotypic analysis revealed that patients with variants in the LIM 3 domain presented hypertrophic cardiomyopathy and those with variants of the LIM 0~2 and LIM 4 domains had mainly presented DCM. The c.391C>T (p.Arg131Cys) has been identified in a child with DCM, though it has not been validated among the patient's family members. Based on the guidelines of the American College of Medical Genetics and Genomics, the c.391C>T(p.Arg131Cys) variant was re-classified as likely pathogenic (PS2+PM2_Supporting+PP3+PP5).
CONCLUSION
The heterozygous missense variant of c.391C>T (p.Arg131Cys) in the FHL2 gene probably predisposed to the DCM in this child, which has highlighted the importance of WES in the clinical diagnosis and genetic counseling.
Female
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Humans
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Cardiomyopathy, Dilated/genetics*
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Cardiomyopathy, Hypertrophic
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Genetic Counseling
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Genomics
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Heterozygote
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Muscle Proteins/genetics*
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Transcription Factors
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LIM-Homeodomain Proteins/genetics*