ABSTRACT
Objective: To study the clinical and CT features of the abnormal whole-course wide of eustachian tube (AWWET) with microtia and atresia(MA). Methods: The clinical and CT data of 19 patients (20 ears) from January 2017 to December 2021 with AWWET with MA were retrospectively analyzed, including 15 males and 4 females. The age ranged from 5 to 16 years, with an average of 9.5 years. 50 patients with common MA without wide eustachian tube(ET) as a case control group, including 32 males and 18 females.The age ranged from 5 to 16 years, with an average of 9.2 years. 20 patients (40 ears) who had normal ear CT for tinnitus, otalgia as a normal control group, including 12 males and 8 females. The age ranged from 5 to 16 years, with an average of 12.5 years. We measured the dimension and length of the bony portion of the ET, the total length, the angle between the bony portion and the cartilage portion, and the horizontal angle of ET on CT imagings, and compared with 40 normal ears by SPSS 27.0 software. Results: According to the relationship between AWWET and tympanum, patients were divided into the communicated group and the blocked group. A male predominance, left ear predominance, with high incidence of hemifacial microsomia exhibited in both groups. AWWET was presented as a widened lumen on CT. In 11 ears (4 ears in the communicated group, 7 ears in the blocked group), ETs bifurcated, the upper bony tube extended to the sphenoid body, the lower part continued down to cartilaginous ET and opened onto the nasopharynx, with"mastoid-like"pneumatization of the sphenoid body in 6 ears. The middle ear deformity in case group was more serious than MA control group, especially the blocked group. The incidence of otitis media in the communicated group was lower than that in the MA control group, and 4 cases in the blocked group had effusion in the ET. Compaired with normal ear, the bony ET elongated significantly in the AWWET groups, and the whole course of ET was significantly shortened, specially in the blocked group. The angle between the bony ET and the cartilaginous ET was decreased and the horizontal angle of the ET increased in the AWWET groups, the difference was considered to indicate statistical significance(P<0.05). Conclusions: AWWET with MA is rare, a male predominance, left ear predominance, and with high incidence of hemifacial microsomia. The middle ear deformity is more serious than common MA, especially in the blocked group. The incidence of otitis media in the communicated group is significantly lower than that in the common MA, and the blocked group may be accompanied by ET inflammation.
Subject(s)
Congenital Microtia , Eustachian Tube , Goldenhar Syndrome , Otitis Media with Effusion , Otitis Media , Female , Humans , Male , Child, Preschool , Child , Adolescent , Eustachian Tube/diagnostic imaging , Retrospective Studies , Tomography, X-Ray ComputedABSTRACT
AIM: To investigate the feasibility of a radiomics nomogram model for predicting malignant transformation in sinonasal inverted papilloma (IP) based on radiomic signature and clinical risk factors. MATERIALS AND METHODS: This single institutional retrospective review included a total of 143 patients with IP and 75 patients with IP with malignant transformation to squamous cell carcinoma (IP-SCC). All patients underwent surgical pathology and had preoperative magnetic resonance imaging (MRI) and computed tomography (CT) sinus studies between June 2014 and February 2022. Radiomics features were extracted from contrast-enhanced T1-weighted images (CE-T1WI), T2-weighted images (T2WI), and apparent diffusion coefficient (ADC) maps. The least absolute shrinkage and selection operator (LASSO) were performed to select the features extracted from the sequences mentioned above. Independent clinical risk factors were identified by multivariate logistic regression analysis. Radiomics nomogram was constructed by incorporating independent clinical risk factors and radiomics signature. Based on discrimination and calibration, the diagnostic performance of the nomogram was evaluated. RESULTS: Twelve radiomics features were selected to develop the radiomics model with an area under the curve (AUC) of 0.987 and 0.989, respectively. Epistaxis (p=0.011), T2 equal signal (p=0.003), extranasal invasion (p<0.001), and loss of convoluted cerebriform pattern (p=0.002) were identified as independent clinical predictors. The radiomics nomogram model showed excellent calibration and discrimination (AUC: 0.993, 95% confidence interval [CI]: 0.985-1.00 and 0.990, 95% CI: 0.974-1.00) in the training and validation sets, respectively. CONCLUSION: The nomogram that the combined radiomics signature and clinical risk factors showed a satisfactory ability to predict IP-SCC.
Subject(s)
Head and Neck Neoplasms , Multiparametric Magnetic Resonance Imaging , Papilloma, Inverted , Respiratory Tract Neoplasms , Humans , Nomograms , Papilloma, Inverted/diagnostic imaging , Radiomics , Magnetic Resonance Imaging/methods , Retrospective StudiesABSTRACT
OBJECTIVE: To investigate whether long noncoding RNA H19 (lncRNA H19) induces vascular calcification by promoting calcium deposition, osteogenic differentiation and apoptosis via inhibiting the Bax inhibitor 1/optic atrophy 1 (BI-1/ OPA1) pathway. METHODS: ß-glycerophosphate and calcium chloride were used to induce calcification in rat vascular smooth muscle cells (VSMCs), and the effects of siH19, alone or in combination with BI-1 or OPA1 knockdown, on calcification of the cells were investigated. Osteogenic differentiation was assessed by measuring Runt-related transcription factor 2 (Runx-2) and bone morphogenetic protein 2 (BMP-2) expression with Western blotting, and cell apoptosis was evaluated by TUNEL staining and Western blotting. An ApoE-/- diabetic mouse model with high-fat feeding for 32 weeks were given an intraperitoneal injection of siH19, and the changes in calcium deposition in the aortic arch were examined using Alizarin red S staining and von Kossa staining. RESULTS: In rat VSMCs with calcification, the expression of lncRNA H19 was significantly increased, and the expressions of BI- 1 and OPA1 were significantly decreased. Downregulation of lncRNA H19 significantly increased the expressions of BI-1 and OPA1 proteins in the cells, and BI-1 knockdown further reduced OPA1 expression (P<0.001). The cells treated with siH19 showed total disappearance of the calcified nodules with significantly reduced expressions of Runx-2, BMP-2 and cleaved caspase-3 and a lowered cell apoptosis rate (P<0.001). Calcified nodules were again observed in the cells with lncRNA H19 knockdown combined with BI-1 or OPA1 knockdown, and the expressions of Runx-2, BMP-2, cleaved-caspase-3 and cell apoptosis rate all significantly increased (P<0.001). In the diabetic mouse model with high-fat feeding, siH19 treatment significantly reduced the calcification area and increased mRNA expressions of BI-I and OPA1 in the aortic arch. CONCLUSION: LncRNA H19 promotes vascular calcification possibly by promoting calcium deposition, osteogenic differentiation and cell apoptosis via inhibiting the BI-1/OPA1 pathway.
Subject(s)
Diabetes Mellitus , Optic Atrophy, Autosomal Dominant , RNA, Long Noncoding , Vascular Calcification , Animals , Mice , Rats , bcl-2-Associated X Protein/metabolism , Calcium/metabolism , Caspase 3/metabolism , Cells, Cultured , Diabetes Mellitus/metabolism , Disease Models, Animal , Myocytes, Smooth Muscle , Optic Atrophy, Autosomal Dominant/metabolism , Osteogenesis , RNA, Long Noncoding/genetics , RNA, Long Noncoding/metabolism , Vascular Calcification/metabolismSubject(s)
Antineoplastic Agents , Leukemia, Lymphocytic, Chronic, B-Cell , Humans , Rituximab/therapeutic use , Leukemia, Lymphocytic, Chronic, B-Cell/drug therapy , Bridged Bicyclo Compounds, Heterocyclic/therapeutic use , Sulfonamides/therapeutic use , Antineoplastic Agents/therapeutic use , Antineoplastic Combined Chemotherapy ProtocolsSubject(s)
Leukemia, Lymphocytic, Chronic, B-Cell , Lymphoma, B-Cell , Humans , Rituximab/therapeutic use , Bendamustine Hydrochloride/therapeutic use , Leukemia, Lymphocytic, Chronic, B-Cell/drug therapy , Protein Kinase Inhibitors/therapeutic use , Antineoplastic Combined Chemotherapy Protocols , Treatment OutcomeABSTRACT
Objective: To investigate the clinical and molecular biological characteristics of patients with accelerated chronic lymphocytic leukemia (aCLL) . Methods: From January 2020 to October 2022, the data of 13 patients diagnosed with aCLL at The First Affiliated Hospital of Nanjing Medical University were retrospectively analyzed to explore the clinical and molecular biological characteristics of aCLL. Results: The median age of the patients was 54 (35-72) years. Prior to aCLL, five patients received no treatment for CLL/small lymphocytic lymphoma (SLL), while the other patients received treatment, predominantly with BTK inhibitors. The patients were diagnosed with aCLL through pathological confirmation upon disease progression. Six patients exhibited bulky disease (lesions with a maximum diameter ≥5 cm). Positron emission tomography (PET) -computed tomography (CT) images revealed metabolic heterogeneity, both between and within lesions, and the median maximum standardized uptake value (SUVmax) of the lesion with the most elevated metabolic activity was 6.96 (2.51-11.90). Patients with unmutated IGHV CLL accounted for 76.9% (10/13), and the most frequent genetic and molecular aberrations included +12 [3/7 (42.9% ) ], ATM mutation [6/12 (50% ) ], and NOTCH1 mutation [6/12 (50% ) ]. Twelve patients received subsequent treatment. The overall response rate was 91.7%, and the complete response rate was 58.3%. Five patients experienced disease progression, among which two patients developed Richter transformation. Patients with aCLL with KRAS mutation had worse progression-free survival (7.0 month vs 26.3 months, P=0.015) . Conclusion: Patients with aCLL exhibited a clinically aggressive course, often accompanied by unfavorable prognostic factors, including unmutated IGHV, +12, ATM mutation, and NOTCH1 mutation. Patients with CLL/SLL with clinical suspicion of disease progression, especially those with bulky disease and PET-CT SUVmax ≥5, should undergo biopsy at the site of highest metabolic uptake to establish a definitive pathological diagnosis.
Subject(s)
Leukemia, Lymphocytic, Chronic, B-Cell , Humans , Middle Aged , Aged , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Positron Emission Tomography Computed Tomography , Retrospective Studies , Biopsy , Disease ProgressionABSTRACT
Objective: To investigate the sleep quality of video operators in Shenzhen, and explore the relationship between sleep quality and occupational stress and different work and life habits. Methods: In December 2020, a cluster sampling method was used to investigate 791 video operators in Shenzhen from June to December 2020 who were engaged in printing, design, IT and other industries. The Pittsburgh Sleep Quality Index Scale was used to investigate the sleep quality of video operators, and the Job Content Questionnaire was used to investigate the occupational stress of video operators, The Pay Return Imbalance Questionnaire was used to investigate the pay return imbalance of video operators. The measurement data conforming to the normal distribution shall be expressed by mean±standard deviation, and t-test, analysis of variance and linear correlation analysis shall be adopted according to the type of independent variable. Those that do not conform to the normal distribution are described by the median M (Q(1), Q(3)), and two sample Wilcoxon test is used according to the binary data of independent variable type. Kruskal Wallis test was used for multi classification data, and Spearman rank correlation was used for single factor analysis for ordinal classification data. The counting data were analyzed by chi square test or Fisher exact probability method. Logistic regression was used for multivariate analysis. Results: the pittsburgh sleep quality index was 4.76±2.86. 499 of them had high sleep quality. 292 people had low sleep quality, accounting for 36.91% (292/791). Compared with the low sleep quality group, the high sleep quality group had lower work requirement scores (13.48±1.77), higher autonomy scores (24.08±3.33), higher social support scores (23.95±3.08), lower pay scores (16.11±2.63), higher return scores (31.11±3.65), and lower internal input scores (14.98±2.55). There were statistically significant differences between the two scales in each dimension index group (P<0.05). Multi factor unconditional logistic regression analysis showed that high education level (OR=1.57, 95%CI=1.26~1.98, P<0.05), occupational stress (OR=1.69, 95%CI=1.21~2.36, P<0.05), and high pay and low return (OR=1.41, 95%CI=1.01~1.96, P<0.05) were the main influencing factors of sleep quality. Conclusion: The occurrence of occupational stress in video operators is a risk factor for low sleep quality, which should be paid enough attention.
Subject(s)
Occupational Stress , Stress, Psychological , Humans , Stress, Psychological/epidemiology , Computer Terminals , Sleep Quality , Cross-Sectional Studies , Occupational Stress/epidemiology , Surveys and QuestionnairesABSTRACT
AIM: To explore the role of imaging features in the diagnosis of endolymphatic sac tumour (ELST). MATERIALS AND METHODS: Twenty-two patients with ELST confirmed at histopathology were included in this retrospective study. All patients underwent computed tomography (CT) and magnetic resonance imaging (MRI) examinations, including diffusion-weighted imaging (DWI; n=18) and dynamic contrast-enhanced (DCE) MRI (n=3). The imaging features of this series were analysed. RESULTS: All lesions appeared as irregular soft-tissue mass lesions located in the middle and posterior margin of the petrous bone. At CT, the normal vestibular aqueduct structure disappeared. Multiple osteoid tissues were present inside the tumour, and destructive bone changes had a "honeycomb" pattern. Twenty cases were accompanied by the incomplete thin bony peripheral rim along the medial margin. On both T1-weighted imaging (WI) and T2WI, all lesions showed hyperintense, hypointense, and isointense mixed signal intensity. Scattered peripheral hyperintensities were found in all cases on T1WI. The mean apparent diffusion coefficient (ADC) value of 18 lesions was (1.35 ± 0.13) × 10-3 mm2/s, which was similar to that of masseter muscles. On enhanced T1WI, all lesions had significant heterogeneous enhancement, and the vascular flowing-void effect was seen in larger lesions (≥1.5 cm). The time-signal intensity curve (TIC) showed a plateau type in all three cases. CONCLUSIONS: The imaging features of ELST, including its location, bone destruction form, MRI signal intensity, and enhancement pattern, are helpful to improve the diagnostic accuracy of this rare tumour.
Subject(s)
Bone Neoplasms , Endolymphatic Sac , Contrast Media , Diffusion Magnetic Resonance Imaging , Endolymphatic Sac/diagnostic imaging , Humans , Magnetic Resonance Imaging/methods , Retrospective Studies , Tomography, X-Ray Computed/methodsABSTRACT
AIM: To analyse the diagnostic value of magnetic resonance imaging (MRI)-based radiomics for triple-negative breast cancer (TNBC) by conducting a meta-analysis. MATERIALS AND METHODS: A comprehensive search was performed to identify relevant English articles concerning the MRI-based radiomics diagnosis of TNBC (from the date of database establishment to November 2021). The pooled sensitivity (SEN), pooled specificity (SPE), positive likelihood ratio (LR+), negative likelihood ratio (LR-), diagnostic odds ratio (DOR) with 95% confidence interval (CI), summary receiver operating characteristic (SROC) curve and area under the curve (AUC) for the accuracy of MRI-based radiomics in the diagnosis of TNBC were calculated. The I2 test was used to assess heterogeneity and the source of heterogeneity was investigated by performing a meta-regression analysis. Publication bias was assessed using Deeks' funnel plot asymmetry test. RESULTS: Six studies (1,223 patients) met the eligibility criteria. The pooled sensitivity and specificity were 0.72 and 0.91, respectively. The LR+ of the malignant ultrasonic features was 8.0, and the LR- was 0.31, revealing that MRI-based radiomics exhibited excellent ability to confirm or exclude TNBC. SROC curves showed that the AUC of the MRI-based radiomics diagnosis of TNBC was 0.88, indicating that MRI-based radiomics has good diagnostic value for TNBC. CONCLUSIONS: MRI radiomics is an excellent diagnostic tool with high specificity for the diagnosis of TNBC.
Subject(s)
Triple Negative Breast Neoplasms , Area Under Curve , Humans , Magnetic Resonance Imaging , ROC Curve , Sensitivity and Specificity , Triple Negative Breast Neoplasms/diagnostic imagingABSTRACT
OBJECTIVE: To investigate the effects of Bax inhibitor 1 (BI- 1) and optic atrophy protein 1 (OPA1) on vascular calcification (VC). METHODS: Mouse models of VC were established in ApoE-deficient (ApoE-/-) diabetic mice by high-fat diet feeding for 12 weeks followed by intraperitoneal injections with Nε-carboxymethyl-lysine for 16 weeks. ApoE-/- mice (control group), ApoE-/- diabetic mice (VC group), ApoE-/- diabetic mice with BI-1 overexpression (VC + BI-1TG group), and ApoE-/- diabetic mice with BI-1 overexpression and OPA1 knockout (VC+BI-1TG+OPA1-/- group) were obtained for examination of the degree of aortic calcification using von Kossa staining. The changes in calcium content in the aorta were analyzed using ELISA. The expressions of Runt-related transcription factor 2 (RUNX2) and bone morphogenetic protein 2 (BMP-2) were detected using immunohistochemistry, and the expression of cleaved caspase-3 was determined using Western blotting. Cultured mouse aortic smooth muscle cells were treated with 10 mmol/L ß-glycerophosphate for 14 days to induce calcification, and the changes in BI-1 and OPA1 protein expressions were examined using Western blotting and cell apoptosis was detected using TUNEL staining. RESULTS: ApoE-/- mice with VC showed significantly decreased expressions of BI-1 and OPA1 proteins in the aorta (P=0.0044) with obviously increased calcium deposition and expressions of RUNX2, BMP-2 and cleaved caspase-3 (P= 0.0041). Overexpression of BI-1 significantly promoted OPA1 protein expression and reduced calcium deposition and expressions of RUNX2, BMP-2 and cleaved caspase-3 (P=0.0006). OPA1 knockdown significantly increased calcium deposition and expressions of RUNX2, BMP-2 and cleaved caspase-3 in the aorta (P=0.0007). CONCLUSION: BI-1 inhibits VC possibly by promoting the expression of OPA1, reducing calcium deposition and inhibiting osteogenic differentiation and apoptosis of the vascular smooth muscle cells.
Subject(s)
Diabetes Mellitus, Experimental , GTP Phosphohydrolases , Membrane Proteins , Optic Atrophy, Autosomal Dominant , Vascular Calcification , Animals , Apolipoproteins E/metabolism , Calcium/metabolism , Caspase 3/metabolism , Cells, Cultured , Core Binding Factor Alpha 1 Subunit/metabolism , Diabetes Mellitus, Experimental/metabolism , Diabetes Mellitus, Experimental/pathology , GTP Phosphohydrolases/biosynthesis , GTP Phosphohydrolases/genetics , GTP Phosphohydrolases/metabolism , Membrane Proteins/metabolism , Mice , Mice, Knockout , Muscle, Smooth, Vascular/metabolism , Muscle, Smooth, Vascular/pathology , Myocytes, Smooth Muscle/metabolism , Myocytes, Smooth Muscle/pathology , Optic Atrophy, Autosomal Dominant/metabolism , Optic Atrophy, Autosomal Dominant/pathology , Osteogenesis , Vascular Calcification/metabolism , Vascular Calcification/pathology , bcl-2-Associated X Protein/metabolismABSTRACT
Objective: To analyze the prevalence and risk factors of self-reported cancer in adults in China in 2015. Methods: The data used in this study were from China Chronic Disease and Risk Factors Surveillance in 2015. The frequency and proportion of the classified variables were analyzed by descriptive statistics, the disordered classified variables were compared by χ2 test, and the possible risk factors of cancer patients were screened by univariate and multivariate logistic regression analyses. Results: In 2015, there were 1 809 self-reported tumors patients in China, including 689 males (0.63%), 1 120 females (1.03%), 769 (0.71%) in the eastern region, 465 (0.43%) in the central region and 575 (0.53%) in the western region. The patients were mainly distributed in people aged 45- and 55- years old, being overweight or obese, living in eastern urban area, having low education level, being married, having low annual household income and being occupational population. The results of multivariate logistic regression showed that compared with the western region, the prevalence rate of cancer was higher in the eastern region (OR=1.05, 95%CI: 1.04-1.06), while lower in the central region (OR=0.94, 95%CI: 0.93-0.95); the risk for cancer in people with family history of malignancy was higher than that in people without family history of malignancy (OR=1.95, 95%CI:1.94-1.96) the risk for cancer in people with an annual household income of less than 10 000 yuan or between 10 000 and 50 000 yuan was higher than that in people with an annual household income of more than 50 000 yuan (<10 000 yuan: OR=1.59, 95%CI: 1.58-1.60; between 10 000 and 50 000 yuan: OR=1.27, 95%CI: 1.26-1.28); and the risk for cancer in people living urban areas was lower than that in people living in rural areas (OR=0.98, 95%CI: 0.97-0.99). In terms of personal behavior and diet, the risk for cancer in smokers was 1.25 times higher than that in non-smokers (OR=1.25, 95%CI: 1.24-1.26), and the risk for cancer in alcoholics was 1.16 times higher than that in non-alcoholics (OR=1.16, 95%CI: 1.15-1.17), the risk for cancer in people with insufficient vegetable and fruit intakes was 1.29 times and 1.03 times higher than those in people with sufficient intakes of vegetables and fruits, respectively (OR=1.29, 95%CI: 1.28-1.30;OR=1.03,95%CI: 1.02-1.04). People with low frequency of high-intensity exercise had a higher risk for cancer compared with those with high frequency of high-intensity exercise (OR=1.32, 95%CI: 1.31-1.33), the risk for cancer was higher in people with low frequency of moderate exercise than in people with high frequency of moderate exercise (OR=1.08, 95%CI: 1.07-1.09). The risk for cancer in people with sedentary time less than 2 hours was higher than that in those with sedentary time more than 2 hours (OR=1.69, 95%CI: 1.68-1.70), and the risk for cancer in people who ate moderate amount of red meat was lower than that in people who ate excessive amount of red meat (OR=0.86, 95%CI: 0.85-0.87). Conclusions: The number of female self-reported cancer was more than that in males, and the number of self-reported cancer in the eastern region was higher than that in the central and western regions. Living in eastern region, with family history of malignancy, having low annual household income, smoking, drinking, insufficient vegetable intake, insufficient fruit intake and low frequency of high-intensity exercise and low frequency of moderate intensity exercise were the main risk factors for cancer, while living in central region, living in urban area and low red meat intake were protective factors.
Subject(s)
Neoplasms , Vegetables , Adult , China/epidemiology , Humans , Middle Aged , Neoplasms/epidemiology , Risk Factors , Self ReportABSTRACT
AIM: To characterise the computed tomography (CT) and magnetic resonance imaging (MRI) features, in particular the functional MRI characteristics, of extraocular muscle granular cell tumours (GCTs). MATERIALS AND METHODS: The CT (n=6) and MRI (n=8) features of eight extraocular muscle GCTs cofirmed at histopathology were analysed retrospectively. The imaging findings were evaluated with emphasis on the location, size, margin, shape, extent, bony change, internal architecture, enhancement pattern, and extent of lesions. Based on diffusion-weighted imaging (DWI) and dynamic contrast-enhanced (DCE) MRI, the apparent diffusion coefficient (ADC) value of six lesions and time-intensity curve (TIC) of one lesion were reviewed. RESULTS: Immunohistochemistry revealed strong positivity for S-100 protein and a low Ki-67 index (2-5%) in all cases. Most of the lesions (7/8) were confined to the muscle belly with an ovoid shape. All of the tumours were isodense to cerebral grey matter and showed homogeneously mild enhancement on CT images. All lesions were hypointense to cerebral grey matter on T2-weighted imaging (T2WI) and showed homogeneously marked enhancement on contrast-enhanced T1-weighted imaging (T1WI). All lesions showed a hypo- or isointense signal on DWI images with a high b-value. The mean ADC of six lesions was (0.72 ± 0.14) × 10-3 mm2/s. The TIC of the case examined using DCE-MRI showed a plateau pattern (type II). CONCLUSION: A well-defined oval mass confined to the muscle belly with a hypointense signal on T2WI, homogeneously marked enhancement on contrast-enhanced T1WI, hypo- or isointense signal on DWI, and low ADC value is highly suggestive of a GCT.
Subject(s)
Contrast Media , Granular Cell Tumor , Diffusion Magnetic Resonance Imaging , Granular Cell Tumor/diagnostic imaging , Humans , Magnetic Resonance Imaging/methods , Oculomotor Muscles/diagnostic imaging , Retrospective Studies , Tomography, X-Ray Computed/methodsABSTRACT
AIM: To investigate the diagnostic accuracy of dual-energy computed tomography (DECT)-derived iodine concentration (IC), effective atomic number (Zeff), and spectral attenuation information for differentiating malignant and benign orbital tumours. MATERIALS AND METHODS: Data from 41 patients with orbital tumours from November 2019 to March 2021 were analysed retrospectively. Each patient underwent contrast-enhanced DECT using a 128-section dual-source computed tomography (DSCT) system. Dual-energy information, including IC, normalised iodine concentration (NIC), Zeff, virtual monoenergetic images (VMIs) reconstructed from 40 to 120 keV and slope (k) value were determined. Quantitative measurement of DECT parameters was undertaken by two independent radiologists blinded to clinical data. Differences in parameters were assessed using independent sample t-test. Diagnosis performance was calculated by the receiver operating characteristic (ROC) curve analysis. Radiation doses of conventional CT and DECT were compared by paired t-tests. RESULTS: Forty-one patients with histopathologically confirmed tumours were enrolled, including 10 malignant cases and 21 benign cases. Malignant orbital tumours exhibited significantly greater IC, NIC, Zeff, CT attenuation of VMIs at 40-105 keV, and k values compared to benign orbital tumours (p<0.05). In ROC analyses, 40 keV VMI demonstrated the highest diagnostic performance of single parameters (area under the ROC curve [AUC], 0.940), and combined parameters achieved the best performance (AUC, 0.971; sensitivity, 90%; specificity, 93.55%). Radiation doses were significantly reduced in DECT than conventional CT (p<0.001). CONCLUSIONS: Quantitative DECT analysis can be a useful technique, which yields excellent diagnostic accuracy, in the differentiation of malignant and benign orbital tumours with low radiation dose.
Subject(s)
Iodine , Orbital Neoplasms , Humans , Orbital Neoplasms/diagnostic imaging , ROC Curve , Retrospective Studies , Tomography, X-Ray Computed/methodsABSTRACT
Objective: To clarify the molecular basis of patients with Bartter syndrome type I and explore the therapeutic effect of trafficking-defective variations by chemical chaperone 4-Phenylbutyric acid(4-PBA). Methods: The clinical characteristics, laboratory findings and genetic data of 3 patients diagnosed with Bartter syndrome type I who were admitted to Department of Nephrology, Children's Hospital of Nanjing Medical University from 2017 to 2018 were retrospectively analyzed. Wild type and variant SLC12A1 gene constructs were transiently overexpressed in HEK293 cells. Western blotting was used to detect the expression levels of Na+-K+-2Cl-cotransporter(NKCC2) protein. Immunofluorescent staining was applied to investigate the subcellular localization of NKCC2 protein. In addition, the effect of the chemical chaperone 4-PBA on the expression and localization of the SLC12A1 gene variants was investigated. Unpaired t test was used for statistical analysis of 4-PBA treatment. Results: All the 3 patients (2 males and 1 female), aged 3.0, 4.0 and 1.2 years, respectively. All patients had antenatal onset with polyhydramnios and were born prematurely. After birth, all patients presented with hypochlorine alkalosis accompanied by hypokalemia and hyponatremia. Sequencing analysis revealed that the 3 patients were homozygotes or compound heterozygotes for variants in the SLC12A1 gene. In HEK293 cells, the surface expression of NKCC2 in 3 variants (p.L463S, p.L479V, p.507-510del) are all lower than in wild type (0.718±0.039, 0.287±0.081, 0.025±0.156 vs. 1.001±0.028, t=5.92, 8.35, 30.49, all P<0.01). Moreover, the total protein expression of p.L479V and p.507-510del group were all lower than that in wild type group (0.630±0.032, 0.043±0.003 vs. 1.000±0.111, t=3.21, 8.65, all P<0.05). 4-PBA treatment increased the mature protein expression level of the p.L463S and p. L479V group in 4-PBA treatment group are all higher than the untreated group (0.459±0.018 vs. 1.123±0.024, 0.053±0.012 vs. 1.256±0.037, t=2.75, 18.35, all P<0.05). Cytoplasmic retention of the L479V and 507-510del variants were observed by immunofluorescent staining. 4-PBA treatment could rescue a number of NKCC2 L479V variants to the membrane. Conclusions: The 3 SLC12A1 variants cause expression or subcellular localization defects of the protein. The findings that plasma membrane expression and activity can be rescued by 4PBA might help to develop novel therapeutic strategy for Bartter syndrome type â .
Subject(s)
Bartter Syndrome , Bartter Syndrome/genetics , Child, Preschool , Female , HEK293 Cells , Homozygote , Humans , Infant , Male , Pregnancy , Retrospective Studies , Solute Carrier Family 12, Member 1/geneticsABSTRACT
Objective: To investigate the clinical, genetic, and clonality related aspects of individuals with Richter transformation (RT) . Methods: From January 2019 to December 2021, 18 RT patients with diagnoses at the First Affiliated Hospital of Nanjing Medical University (Pukou CLL center) were retrospectively examined. The immunoglobin heavy variable (IGHV) gene usage and IGHV-D-J rearrangement pattern of diagnosed CLL/SLL and transformed diffuse large B-cell lymphoma (DLBCL) were compared to determine the clonality relatedness. To investigate the risk factors of RT, Clinical and laboratory data from patients with newly diagnosed CLL/SLL and transformed DLBCL were gathered. Results: The median age of RT was 56.5 (41-75) years old. 17 patients transformed to DLBCL and 1 transformed to Hodgkin lymphoma (HL) . Of 17 individuals who had DLBCL transformation, 15 had CLL/SLL-related clonality and 2 had unrelated clonality. Next-generation sequencing (NGS) analysis of 11 paired initially diagnosed treatment-naive CLL/SLL and RT DLBCL found that EGR2ãTP53 and NOTCH1 were among the most frequently mutated genes both in treatment-naive CLL/SLL and in RT DLBCL. In several cases, specific mutations were gained or lost throughout RT, indicating clonal evolution. Among 10 patients before exposure to BTK inhibitors before RT, four patients acquired BTK mutation. The aforementioned mutations should be considered high-risk variables for transformation; in addition, TP53 and EGR2 mutations could be linked to a poor prognosis following RT in patients receiving a cocktail of new medicines. Conclusion: Most RT DLBCL patients in our center are clonality related (15/17, 88.2% ) and we recommend all qualified centers to evaluate clonality relatedness of RT DLBCL patients. There was some variability in the mutational landscape between DLBCL that had undergone a transformation and initially diagnosed, treatment-naive CLL/SLL. The underlying molecular mechanism of RT needs more research.
Subject(s)
Hodgkin Disease , Leukemia, Lymphocytic, Chronic, B-Cell , Lymphoma, Large B-Cell, Diffuse , Aged , Humans , Middle Aged , Cell Transformation, Neoplastic/genetics , Cell Transformation, Neoplastic/pathology , Hodgkin Disease/genetics , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Lymphoma, Large B-Cell, Diffuse/genetics , Lymphoma, Large B-Cell, Diffuse/pathology , Retrospective Studies , AdultABSTRACT
Objective: To compare the prognostic value of four prognostic models in predicting time to first treatment (TTFT) in patients with Binet A Chinese chronic lymphocytic leukemia (CLL) . Methods: This retrospective analysis included one hundred and ten patients with Binet A CLL, initially diagnosed in the First Affiliated Hospital of Nanjing Medical University (Pukou CLL center) from June 2009 to January 2020. Risk stratification was conducted according to IPS-E, CLL-IPI, CLL1-PM, and Barcelona-Brno prognostic models. Results: Among 110 patients with Binet A CLL patients, the median age was 58 (25-84) years. The median follow-up time was 35 (4-189) months, and 57 (51.8%) patients met the indication for treatment due to symptomatic disease progression during follow-up. Log-rank analysis of nine variables was conducted involving age, Rai stage, absolute lymphocyte count (ALC) , lymph node size, lymphocyte doubling time (LDT) , ß(2)-Microglobulin, IGHV status, TP53, and Del (11q) . Additionally, Rai â -â ¢, ALC>15×10(9)/L, palpable lymph node size ≥1cm, ß(2)-Microglobulin>3.5 mg/L, unmutated IGHV, TP53 mutation or deletion, and 11q deletion were independent risk factors of TTFT. Predictive value of each model was assessed by Harrel C-index and Akaike information criterion (AIC) with CLL1-PM (C-index=0.736, AIC=777) , followed by CLL-IPI (C-index=0.722, AIC=933) , IPS-E (C-index=0.683, AIC=1004) , and Barcelona-Brno prognostic model (C-index=0.663, AIC=986) . Conclusion: All four prognostic models effectively predicted TTFT. IPS-E might be an ideal model to guide clinical surveillance because of its easy accessibility and low expenses in routine clinical practice. Therefore, for patients receiving fluorescence in situ hybridization (FISH) and next-generation sequencing (NGS) examination at diagnosis, CLL-IPI or CLL1-PM could be applied to evaluate their prognosis more comprehensively.
Subject(s)
Leukemia, Lymphocytic, Chronic, B-Cell , Humans , In Situ Hybridization, Fluorescence , Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis , Middle Aged , Prognosis , Retrospective Studies , Survival RateABSTRACT
Objective: To collect the clinical cases of middle ear hairy polyp, and to summarize the imaging features. Methods: We retrospectively analyzed the clinical data of four cases middle ear hairy polyp confirmed by surgical and pathologic between January 2007 and January 2020 at the Affiliated Eye & ENT Hospital of Fudan University. There were three females, one male, with two left ears and two right ears, aged from 1 to 59 years. The CT and MRI imaging of the patients, and the corresponding clinical manifestations were analyzed. Results: Hairy polyps originated from tympanum in one case, originated from Eustachian tube in two cases, exhibiting recurrent otorrhea without evident inducement. The other case, hairy polyps originated from the Eustachian tube pharyngeal orifice and protruded into the nasopharyngeal cavity, with pharynx discomfort and aural fullness, endoscope showed offwhite polypoid mass with a little hair. All the four cases presented polypoid soft tissue masses on CT and MRI imaging, containing soft tissue wall and a large amount of adipose tissue, with soft tissue in the center of the mass which liked the core, and enhanced. MRI showed stratified arrangement of fat and soft tissue in the wall of the mass. Four cases all had surgical treatment, postoperative pathology examination presented that hair follicles, mature sebaceous glands and other skin appendages were found under squamous epithelium. A large amount of adipose tissue, part of muscle tissue, cartilage tissue, and some fibro-collagenous tissue were proliferated in the mass, accompanied by collagen degeneration. Conclusion: The middle ear hairy polyps has imaging characteristics, the polypoid soft tissue mass usually looks smooth and contains a large amount of adipose tissue, with a soft tissue in the center, and can be suggestively diagnosed by CT and MRI.