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1.
Genet Res (Camb) ; 2024: 4285171, 2024.
Article in English | MEDLINE | ID: mdl-38715622

ABSTRACT

Bladder cancer has recently seen an alarming increase in global diagnoses, ascending as a predominant cause of cancer-related mortalities. Given this pressing scenario, there is a burgeoning need to identify effective biomarkers for both the diagnosis and therapeutic guidance of bladder cancer. This study focuses on evaluating the potential of high-definition computed tomography (CT) imagery coupled with RNA-sequencing analysis to accurately predict bladder tumor stages, utilizing deep residual networks. Data for this study, including CT images and RNA-Seq datasets for 82 high-grade bladder cancer patients, were sourced from the TCIA and TCGA databases. We employed Cox and lasso regression analyses to determine radiomics and gene signatures, leading to the identification of a three-factor radiomics signature and a four-gene signature in our bladder cancer cohort. ROC curve analyses underscored the strong predictive capacities of both these signatures. Furthermore, we formulated a nomogram integrating clinical features, radiomics, and gene signatures. This nomogram's AUC scores stood at 0.870, 0.873, and 0.971 for 1-year, 3-year, and 5-year predictions, respectively. Our model, leveraging radiomics and gene signatures, presents significant promise for enhancing diagnostic precision in bladder cancer prognosis, advocating for its clinical adoption.


Subject(s)
Neoplasm Staging , Neural Networks, Computer , Tomography, X-Ray Computed , Urinary Bladder Neoplasms , Urinary Bladder Neoplasms/genetics , Urinary Bladder Neoplasms/diagnostic imaging , Urinary Bladder Neoplasms/pathology , Humans , Tomography, X-Ray Computed/methods , Male , Female , RNA-Seq/methods , Aged , Nomograms , Middle Aged , Biomarkers, Tumor/genetics , ROC Curve , Prognosis , Transcriptome , Radiomics
2.
BMC Cardiovasc Disord ; 24(1): 29, 2024 01 03.
Article in English | MEDLINE | ID: mdl-38172720

ABSTRACT

BACKGROUND: Patients with nonischemic dilated cardiomyopathy (NIDCM) are prone to arrhythmias, and the cause of mortality in these patients is either end-organ dysfunction due to pump failure or malignant arrhythmia-related death. However, the identification of patients with NIDCM at risk of malignant ventricular arrhythmias (VAs) is challenging in clinical practice. The aim of this study was to evaluate whether cardiovascular magnetic resonance feature tracking (CMR-FT) could help in the identification of patients with NIDCM at risk of malignant VAs. METHODS: A total of 263 NIDCM patients who underwent CMR, 24-hour Holter electrocardiography (ECG) and inpatient ECG were retrospectively evaluated. The patients with NIDCM were allocated to two subgroups: NIDCM with VAs and NIDCM without VAs. From CMR-FT, the global peak radial strain (GPRS), global longitudinal strain (GPLS), and global peak circumferential strain (GPCS) were calculated from the left ventricle (LV) model. We investigated the possible predictors of NIDCM combined with VAs by univariate and multivariate logistic regression analyses. RESULTS: The percent LGE (15.51 ± 3.30 vs. 9.62 ± 2.18, P < 0.001) was higher in NIDCM patients with VAs than in NIDCM patients without VAs. Furthermore, the NIDCM patients complicated with VAs had significantly lower GPCS than the NIDCM patients without VAs (- 5.38 (- 7.50, - 4.22) vs.-9.22 (- 10.73, - 8.19), P < 0.01). Subgroup analysis based on LGE negativity showed that NIDCM patients complicated with VAs had significantly lower GPRS, GPCS, and GPLS than NIDCM patients without VAs (P < 0.05 for all). Multivariate analysis showed that both GPCS and %LGE were independent predictors of NIDCM combined with VAs. CONCLUSIONS: CMR global strain can be used to identify NIDCM patients complicated with VAs early, specifically when LGE is not present. GPCS < - 13.19% and %LGE > 10.37% are independent predictors of NIDCM combined with VAs.


Subject(s)
Cardiomyopathy, Dilated , Humans , Cardiomyopathy, Dilated/complications , Cardiomyopathy, Dilated/diagnostic imaging , Cardiomyopathy, Dilated/pathology , Myocardium/pathology , Retrospective Studies , Magnetic Resonance Imaging, Cine , Prognosis , Arrhythmias, Cardiac/etiology , Arrhythmias, Cardiac/complications , Magnetic Resonance Spectroscopy , Contrast Media , Predictive Value of Tests
3.
BMC Pregnancy Childbirth ; 23(1): 412, 2023 Jun 03.
Article in English | MEDLINE | ID: mdl-37270533

ABSTRACT

BACKGROUND: Pregnancy begins with a fertilized ovum that normally attaches to the uterine endometrium. However, an ectopic pregnancy can occur when a fertilized egg implants and grows outside the uterine cavity. Tubal ectopic pregnancy is the most common type (over 95%), with ovarian, abdominal, cervical, broad ligament, and uterine cornual pregnancy being less common. As more cases of ectopic pregnancy are diagnosed and treated in the early stages, the survival rate and fertility retention significantly improve. However, complications of abdominal pregnancy can sometimes be life-threatening and have severe consequences. CASE PRESENTATION: We present a case of intraperitoneal ectopic pregnancy with fetal survival. Ultrasound and magnetic resonance imaging showed a right cornual pregnancy with a secondary abdominal pregnancy. In September 2021, we performed an emergency laparotomy, along with additional procedures such as transurethral ureteroscopy, double J-stent placement, abdominal fetal removal, placentectomy, repair of the right uterine horn, and pelvic adhesiolysis, in the 29th week of pregnancy. During laparotomy, we diagnosed abdominal pregnancy secondary to a rudimentary uterine horn. The mother and her baby were discharged eight days and 41 days, respectively, after surgery. CONCLUSIONS: Abdominal pregnancy is a rare condition. The variable nature of ectopic pregnancy can cause delays in timely diagnosis, resulting in increased morbidity and mortality, especially in areas with inadequate medical and social services. A high index of suspicion, coupled with appropriate imaging studies, can help facilitate its diagnosis in any suspected case.


Subject(s)
Pregnancy, Abdominal , Pregnancy, Cornual , Pregnancy, Tubal , Pregnancy , Female , Humans , Pregnancy, Abdominal/diagnostic imaging , Pregnancy, Abdominal/surgery , Uterus/surgery , Pregnancy, Tubal/surgery , Ultrasonography/adverse effects
4.
Front Endocrinol (Lausanne) ; 14: 1059159, 2023.
Article in English | MEDLINE | ID: mdl-37065748

ABSTRACT

Objective: To determine the genetic etiology of a family pedigree with two patients affected by differences of sex development (DSD). Methods: Assess the clinical characteristics of the patients and achieve exome sequencing results and in vitro functional studies. Results: The 15-year-old proband, raised as female, presented with delayed puberty and short stature associated with atypical genitalia. Hormonal profile showed hypergonadotrophic hypogonadism. Imaging studies revealed the absence of a uterus and ovaries. The karyotype confirmed a 46, XY pattern. Her younger brother presented with a micropenis and hypoplastic scrotum with non-palpable testis and hypospadias. Laparoscopic exploration was performed on the younger brother. Streak gonads were found and removed due to the risk of neoplastic transformation. Post-operative histopathology showed the co-existence of Wolffian and Müllerian derivatives. Whole-exome sequencing identified a novel mutation (c.1223C>T, p. Ser408Leu) in the Asp-Glu-Ala-His-box helicase 37 gene, which was found to be deleterious by in silico analysis. Segregation analysis of the variant displayed a sex-limited, autosomal dominant, maternal inheritance pattern. In vitro experiments revealed that the substitution of 408Ser by Leu caused decreased DHX37 expression both at the mRNA and protein levels. Moreover, the ß-catenin protein was upregulated, and the p53 protein was unaltered by mutant DHX37. Conclusions: We described a novel mutation (c.1223C>T, p. Ser408Leu) of the DHX37 gene associated with a Chinese pedigree consisting of two 46, XY DSD patients. We speculated that the underlying molecular mechanism might involve upregulation of the ß-catenin protein.


Subject(s)
Disorder of Sex Development, 46,XY , Gonadal Dysgenesis , Humans , Male , Female , Adolescent , Disorder of Sex Development, 46,XY/genetics , Testis/pathology , Sexual Development , Gonadal Dysgenesis/pathology , Mutation
5.
J Gastrointest Oncol ; 13(5): 2375-2381, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36388650

ABSTRACT

Background: Colorectal cancer (CRC) is one of the most common malignant tumors. Up to 10% CRC patients can have liver metastases at the first diagnosis. At present, clinical diagnosis of CRC liver metastasis (CRCLM) is mostly based on imaging, and there is a certain false-positive rate and false-negative rate. Improving the diagnostic accuracy of imaging for CRCLM is highly significant. Apparent diffusion coefficients showed high predicting value in other cancers. The aim of the present study was to explore the diagnostic value of apparent diffusion coefficients based on magnetic resonance diffusion weighted imaging for CRCLM. Methods: Fifty patients with CRCLM admitted to Hebei Yanda Hospital from January 2018 to December 2018 were retrospectively collected, and the data of 50 patients with benign liver nodules were collected at the same time. The diagnostic value of apparent diffusion coefficients on liver metastatic cancer was analyzed using receiver operating characteristic curve. The correlation between apparent diffusion coefficients and clinical pathological features of patients with CRCLM was also analyzed. The diagnosis of liver metastatic cancer was based on pathological biopsy. Three-year follow up after surgery was conducted in clinic or via phone. Results: Compared with the benign liver nodule group, the apparent diffusion coefficients of patients in the CRCLM group were significantly decreased [(1.14±0.26 vs. 2.06±0.57)×10-3 mm2/s, P<0.001]. The apparent diffusion coefficient was of high value in differentiating between benign liver nodules and liver metastatic cancer. The area under the curve was 0.927 [95% confidence interval (CI): 0.879-0.975, P<0.001]. Compared with patients with highly differentiated tumors, the apparent diffusion coefficients of patients with moderately and poorly differentiated tumors were significantly reduced [(1.08±0.26 vs. 1.29±0.22)×10-3 mm2/s, P=0.010]. Compared with patients who survived 3 years after operation, the apparent diffusion coefficients of patients who died were significantly lower [(1.05±0.26 vs. 1.23±0.23)×10-3 mm2/s, P=0.011]. The apparent diffusion coefficients of liver nodules in patients with CRCLM is a good marker in predicting postoperative 3-year survival, and the area under the curve was 0.728 (95% CI: 0.580-0.876, P=0.006). Conclusions: The apparent diffusion coefficient can sever as a marker in diagnosing CRCLM and predicting prognosis.

6.
Front Neurol ; 13: 905761, 2022.
Article in English | MEDLINE | ID: mdl-35903112

ABSTRACT

Bioinformatics tools are used to create a clinical prediction model for cervical cancer metastasis and to investigate the neurovascular-related genes that are involved in brain metastasis of cervical cancer. One hundred eighteen patients with cervical cancer were divided into two groups based on the presence or absence of metastases, and the clinical data and imaging findings of the two groups were compared retrospectively. The nomogram-based model was successfully constructed by taking into account four clinical characteristics (age, stage, N, and T) as well as one imaging characteristic (original_glszm_GrayLevelVariance Rad-score). In patients with cervical cancer, headaches and vomiting were more often reported in the brain metastasis group than in the other metastasis groups. According to the TCGA data, mRNA differential gene expression analysis of patients with cervical cancer revealed an increase in the expression of neurovascular-related gene Adrenoceptor Beta 1 (ADRB1) in the brain metastasis group. An analysis of the correlation between imaging features and ADRB1 expression revealed that ADRB1 expression was significantly higher in the low Rad-score group compared with the high Rad-score group (P = 0.025). Therefore, ADRB1 expression in cervical cancer was correlated with imaging features and was associated as a risk factor for cerebral neurovascular metastases. This study developed a nomogram prediction model for cervical cancer metastasis using age, stage, N, T and original_glszm_GrayLevelVariance. As a risk factor associated with the development of cerebral neurovascular metastases of cervical cancer, ADRB1 expression was significantly higher in brain metastases from cervical cancer.

7.
Oncol Lett ; 16(4): 5463-5465, 2018 Oct.
Article in English | MEDLINE | ID: mdl-30250618

ABSTRACT

There is a very low prevalence of cardiac fibroma in the adult population. Cardiac fibromas arise from heart fibroblasts, and these tumors are primarily located in the ventricles or in the interventricular septum. Symptomatic tumors are treated by resection. By contrast, asymptomatic tumors require a long-term follow-up or surgical resection as a preventive measure to avoid complications. The present study reports the case of a 43-year-old man, who presented with a cough and shortness of breath for 2 months. Echocardiogram and cardiac magnetic resonance imaging indicated a large mass located in the left ventricular lateral wall. The patient underwent surgical excision of the tumor, and histopathological examination confirmed the mass to be a fibroma. The patient had a good postoperative recovery and was discharged on day 9 post-surgery.

8.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 49(2): 243-247, 2018 Mar.
Article in Chinese | MEDLINE | ID: mdl-29737069

ABSTRACT

OBJECTIVE: To predict histological grade of hepatocellular carcinoma (HCC) in Wistar rats using intravoxel incoherent motion imaging (IVIM) with magnetic resonance imaging (MRI). METHODS: Liver lesions of HCC rat models induced by oral diethylnitrosamine (DEN) were scanned by IVIM to obtain apparent diffusion coefficient (ADC) and IVIM parameters,including true diffusion coefficient (D),pseudodiffusion coefficient (D*) and perfusion fraction (f). These HCC lesions were confirmed by Hematoxylin-Eosin (HE) stain and pathologically graded into low (grade Ⅰ+Ⅱ) and high (grade Ⅲ+Ⅳ) using the Edmondson-Steiner method. The ADC and IVIM parameters of the two grade groups were compared: their diagnostic performance were assessed using ROC curves. RESULTS: HCC models were successfully established in 48 rats,containing 50 HCC lesions (28 low-grade and 22 high-grade). The high-grade lesions had lower ADC (P=0.009) and D (P=0.005) values and higher D* (P=0.032) and f (P=0.044) values compared with the low-grade lesions. The largest jonden index appeared in the ROC curves at 0.907 8×10-3 mm2/s of ADC,0.817 6×10-3 mm2/s of D,24.31×10-3 mm2/s of D*,and 14.4% of f,respectively. The area under curves (AUCs) of these parameters ranged from 0.5 to 0.9,showing no significant differences (P>0.05). CONCLUSION: ADC and IVIM parameters have equal and moderate diagnostic values in predicting histologic grade of HCCs, which can be used for estimating pathological grading of HCCs before surgery.


Subject(s)
Carcinoma, Hepatocellular/diagnostic imaging , Liver Neoplasms/diagnostic imaging , Neoplasm Grading/methods , Animals , Diffusion Magnetic Resonance Imaging , Image Interpretation, Computer-Assisted , Rats , Rats, Wistar , Reproducibility of Results
9.
Eur J Radiol ; 85(10): 1843-1848, 2016 Oct.
Article in English | MEDLINE | ID: mdl-27666626

ABSTRACT

OBJECTIVE: A meta-analysis was conducted to determine the accuracy of dual-energy computed tomography (DECT) for differentiating urinary uric acid and calcified calculi. METHODS: The databases PubMed, EMBASE, Web of Science, and the Cochrane Library were searched up to May 2016 for relevant original studies. Data were extracted to calculate the pooled sensitivity, specificity, diagnostic odds ratio (OR), positive and negative likelihood ratios (PLR and NLR), and areas under summary receiver operating characteristic (AUROC) curves for analysis. RESULTS: Nine studies (609 stones in 415 patients) were included. For differentiating uric acid (UA) and non-UA calculi with DECT, the analysis indicated: pooled weighted sensitivity, 0.955 (95% CI, 0.888-0.987); specificity, 0.985 (95% CI, 0.970-0.993); PLR, 0.084 (95% CI, 0.041-0.170); NLR 33.327 (95% CI, 18.516-59.985); and diagnostic OR 538.18 (95% CI, 195.50-1478.5). The AUROC value was 0.9901. For calcified stones, the analysis indicated: pooled weighted sensitivity, 0.994 (95% CI, 0.969-1); specificity, 0.973 (95% CI, 0.906-0.997); PLR, 11.200 (95% CI, 4.922-25.486); NLR 0.027 (95% CI, 0.010-0.072); and diagnostic OR 654.89 (95% CI, 151.31-2834.4). The AUROC value was 0.9915. CONCLUSION: This meta-analysis found that DECT is a highly accurate noninvasive method for characterizing urinary uric acid and calcified calculi.


Subject(s)
Radiography, Dual-Energy Scanned Projection/methods , Tomography, X-Ray Computed/methods , Uric Acid/urine , Urinary Calculi/diagnostic imaging , Area Under Curve , Diagnosis, Differential , Humans , ROC Curve , Sensitivity and Specificity , Urolithiasis/diagnostic imaging
10.
Clin Exp Rheumatol ; 34(4): 587-91, 2016.
Article in English | MEDLINE | ID: mdl-27213221

ABSTRACT

OBJECTIVES: Interstitial lung disease (ILD) is the most common pulmonary extra-articular manifestations of rheumatoid arthritis (RA), but the pathogenesis of RA-ILD is unknown. The purpose of this study was to investigate the tumour markers levels in patients of rheumatoid arthritis-associated interstitial lung disease (RA-ILD) and to explore the diagnostic value of serum tumour markers for RA-ILD. METHODS: Twenty-eight patients with RA-ILD and 83 patients with RA only were included. Serum levels of tumour markers carcinoembryonic antigen (CEA), carbohydrate antigen (CA) 15-3, CA125, and CA19-9 were measured. RESULTS: Tumour markers CA15-3, CA125 and CA19-9 were increased in RA-ILD patients compared with RA without ILD patients. Logistic regression analysis revealed that older age (OR=1.06, 95% CI=[1.02-1.11]) and higher CA125 (OR=1.03, 95% CI=[1.01-1.05]) related to the increased risk of RA-ILD. ROC curve analysis showed the relationship between CA125 and RA-ILD was moderate (area under ROC curve (AUC)=0.78, 95% CI=[0.68-0.88]). In addition, CA125 levels above the normal reference (<35 U/ml) raised the risk of RA-ILD (OR=6.00, 95% CI=[2.37-15.16]). CONCLUSIONS: RA patient with older age and elevated tumour markers especially CA125 levels should be evaluated to check whether there is a potential of ILD.


Subject(s)
Arthritis, Rheumatoid/complications , Biomarkers, Tumor/blood , Lung Diseases, Interstitial/blood , Lung Diseases, Interstitial/diagnosis , Adult , Age Factors , Aged , Area Under Curve , Arthritis, Rheumatoid/diagnosis , CA-125 Antigen/blood , CA-19-9 Antigen/blood , Carcinoembryonic Antigen/blood , Chi-Square Distribution , Female , Humans , Logistic Models , Lung Diseases, Interstitial/etiology , Male , Middle Aged , Mucin-1/blood , Odds Ratio , Predictive Value of Tests , ROC Curve , Retrospective Studies , Risk Factors
11.
Sci Rep ; 5: 14897, 2015 Oct 07.
Article in English | MEDLINE | ID: mdl-26443305

ABSTRACT

Interstitial lung disease (ILD) is the most common extra-articular manifestations of rheumatoid arthritis (RA) in the lung. This study aimed to identify clinical features of RA-associated ILD (RA-ILD). Patients with RA were retrospectively enrolled and sub-classified as RA-ILD or RA without ILD based on high-resolution computed tomography imaging. Pulmonary function testing parameters and levels of RA-related biomarkers, tumour markers, and acute-phase proteins were compared between the two groups. Logistic regression model was used to assess the strength of association between RA-ILD and clinical features of interest. Receiver operating characteristic analysis was performed to assess potential predictive value of clinical features for detecting RA-ILD. Comparison analysis indicated that the percentage of predicted value of total lung capacity, inspiratory capacity, and diffusion capacity of the lung for carbon monoxide (DLCO) were reduced in patients with RA-ILD. Tumour markers CA15-3 and CA125 were increased in patients with RA-ILD. Logistic regression analysis revealed that decreased DLCO was related to the increased likelihood of RA-ILD (OR = 0.94, 95%CI = [0.91, 0.98]). The cut-off point at 52.95 percent of predicted value could sensitively discriminate RA patients with or without ILD. Our study suggested that DLCO value could be a useful tool for detecting ILD in patients with RA.


Subject(s)
Arthritis, Rheumatoid/complications , Biomarkers/analysis , Lung Diseases, Interstitial/etiology , Lung Diseases, Interstitial/pathology , Female , Humans , Lung Diseases, Interstitial/metabolism , Male , Middle Aged , Prognosis , ROC Curve , Respiratory Function Tests , Retrospective Studies , Risk Factors , Tomography, X-Ray Computed
12.
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi ; 31(1): 107-12, 2014 Feb.
Article in Chinese | MEDLINE | ID: mdl-24804494

ABSTRACT

To analyze the CT features of solid pseudopapillary tumor of pancreas (SPTP), and correlation with the pathological findings of the disease so as to improve the diagnostic abilities, the CT images and the clinical manifestations, we retrospectively analyzed the pathological materials of 23 cases with surgery and pathology proved SPTP. In the 23 patients, 21 cases were female (91.3%) and 2 were male (8.7%). The most common symptom was abdominal discomfort with dull pain in 12 patients (52.2%). Others included the pancreatic mass that was detected incidentally during physical examination in 9 patients (39.1%), nausea/vomiting in 2 patients (8.7%). And 1 case of female patients had 2 lesions. In the 24 tumors, 6 cases were located at the head (25.0%), 3 were at neck (12.5%), 8 cases were at body (33.3%), and 7 cases were at tail of pancreas respectively (29.2%). The long-axis diameter ranged from 2.1 cm to 20.1 cm (mean 6.4 cm). 9 tumors were mostly solid component (37.5%), 10 tumors were contained similar proportion of solid and cystic part (41.7%), and mainly cystic components in 5 tumors (20.8%). In 9 of the 23 patients, calcification was found in the tumor (39.1%). In 2 of the 23 patients, bleeding was seen in the mass (8.7%). The dilation of intrahepatic bile duct was found in 1 patient (8.7%). Liver metastasis was showed in one patient (8.7%). On post-contrast CT scan, solid parts demonstrated mild enhancement at the arterial phase. At the portal phase, solid parts were enhanced continuously in all cases, and the enhancement degrees were lower than normal pancreatic tissue. The cystic parts of all lesions showed no enhancement. Pseudo papillary structure, hemorrhage, necrosis, or cystic degeneration were found in all patients by histological study. In a word, SPTP has comparatively characteristic CT imaging features consistent with histological features, when combined with clinical manifestations, could be correctly diagnosed and differentially diagnosed.


Subject(s)
Pancreatic Neoplasms/diagnostic imaging , Tomography, X-Ray Computed , Bile Ducts, Intrahepatic , Calcinosis/diagnostic imaging , Female , Humans , Liver Neoplasms/secondary , Male , Pancreas/diagnostic imaging , Pancreas/pathology , Pancreatic Neoplasms/pathology , Retrospective Studies
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