Development and validation of a CT-based radiomics model for differentiating pneumonia-like primary pulmonary lymphoma from infectious pneumonia: A multicenter study / 中华医学杂志(英文版)

BACKGROUND@#Pneumonia-like primary pulmonary lymphoma (PPL) was commonly misdiagnosed as infectious pneumonia, leading to delayed treatment. The purpose of this study was to establish a computed tomography (CT)-based radiomics model to differentiate pneumonia-like PPL from infectious pneumonia.@*METHODS@#In this retrospective study, 79 patients with pneumonia-like PPL and 176 patients with infectious pneumonia from 12 medical centers were enrolled. Patients from center 1 to center 7 were assigned to the training or validation cohort, and the remaining patients from other centers were used as the external test cohort. Radiomics features were extracted from CT images. A three-step procedure was applied for radiomics feature selection and radiomics signature building, including the inter- and intra-class correlation coefficients (ICCs), a one-way analysis of variance (ANOVA), and least absolute shrinkage and selection operator (LASSO). Univariate and multivariate analyses were used to identify the significant clinicoradiological variables and construct a clinical factor model. Two radiologists reviewed the CT images for the external test set. Performance of the radiomics model, clinical factor model, and each radiologist were assessed by receiver operating characteristic, and area under the curve (AUC) was compared.@*RESULTS@#A total of 144 patients (44 with pneumonia-like PPL and 100 infectious pneumonia) were in the training cohort, 38 patients (12 with pneumonia-like PPL and 26 infectious pneumonia) were in the validation cohort, and 73 patients (23 with pneumonia-like PPL and 50 infectious pneumonia) were in the external test cohort. Twenty-three radiomics features were selected to build the radiomics model, which yielded AUCs of 0.95 (95% confidence interval [CI]: 0.94-0.99), 0.93 (95% CI: 0.85-0.98), and 0.94 (95% CI: 0.87-0.99) in the training, validation, and external test cohort, respectively. The AUCs for the two readers and clinical factor model were 0.74 (95% CI: 0.63-0.83), 0.72 (95% CI: 0.62-0.82), and 0.73 (95% CI: 0.62-0.84) in the external test cohort, respectively. The radiomics model outperformed both the readers' interpretation and clinical factor model ( P <0.05).@*CONCLUSIONS@#The CT-based radiomics model may provide an effective and non-invasive tool to differentiate pneumonia-like PPL from infectious pneumonia, which might provide assistance for clinicians in tailoring precise therapy.

Tortuosity of the internal carotid artery and the formation of internal carotid aneurysms: an exploratory study based on propensity score method / 中华放射学杂志

Objective:To investigate the correlation between the tortuosity of the internal carotid artery and the formation of internal carotid aneurysms.Methods:The clinical data of patients with suspected cerebrovascular disease admitted to the Jinling Hospital from July 2009 to March 2017 were retrospectively collected. All patients underwent head CT angiography and digital subtraction angiography. Patients with single internal carotid artery aneurysm were classified as the aneurysm group, and patients without obvious abnormal vascular disease were classified as the control group. The demographic information of the patients, including age, gender, history of hypertension and diabetes, were collected. The size of the aneurysm and the tortuosity parameters of the internal carotid artery were measured, including the classification of the tortuosity of internal carotid artery, anterior genu angle (A angle), posterior genu angle (P angle), sum of the angles of A angle and P angle (AP angle) and height difference of anterior genu and posterior genu (D value). SPSS software was used for propensity score matching (PSM). Independent sample t test, Mann-Whitney U test or χ 2 test, Fisher exact test were used to compare the differences of each parameter between the two groups. Spearman analysis was used to analyze the correlation between the tortuosity and aneurysm size. A multivariate logistic regression was used to analyze the independent risk factors of aneurysm formation and to predict the formation of internal carotid aneurysm. The receiver operating characteristic curve and the area under the curve were used for model performance. Results:After PSM, 108 patients were included in each group. The proportion of tortuous internal carotid artery in the aneurysm group was lower than that in the control group [19.4% (21/108) vs. 32.4% (35/108), χ 2=4.72, P=0.030]. A, P and AP angles in the aneurysm group were significantly larger than those in the control group ( U=7 105.50, P=0.006; U=7 139.00, P=0.004; t=-3.14, P=0.002). Multivariate logistic regression analysis showed that AP angle (OR=1.010, 95%CI 1.003-1.016, P=0.002) was an independent risk factor for aneurysm formation. The area under the curves of logistic regression model based on AP angle was 0.624 (95%CI 0.549-0.699). There was a weak correlation between the size of internal carotid artery aneurysm and AP angle ( r=0.210, P=0.002). Conclusions:The tortuosity of the internal carotid artery is associated with the formation of internal carotid artery aneurysms, and the AP angle is an independent risk factor for the formation of internal carotid artery aneurysms, and a weak positive correlation with the size of the aneurysm is observed. It provides a new idea for understanding the formation of internal carotid artery aneurysms from the morphological characteristics of the parent artery.

Multimodal MRI radiomics for preoperative predicting Fuhrman nuclear grade of clear cell renal cell carcinoma / 中华放射学杂志

Objective:To investigate the value of multimodal MRI radiomics in the preoperative prediction of Fuhrman nuclear grade of clear cell renal cell carcinoma (ccRCC).Methods:A total of 129 patients with ccRCC confirmed by pathology from April 2011 to April 2021 in Third Affiliated Hospital of Soochow University were collected, and the imaging and clinicopathological data were retrospectively analyzed. All patients were divided into training set ( n=90) and validation set ( n=39) at the ratio of 7∶3 using random indicator method. According to the postoperative pathological results, Fuhrman grades Ⅰ and Ⅱ were included in the low grade group (96 cases, 65 cases in the training set and 31 cases in the validation set), and Fuhrman grades Ⅲ and Ⅳ were included in the high grade group (33 cases, 25 cases in the training set and 8 cases in the validation set). Two radiologists manually delineated regions of interest (ROI) on T 1WI, T 2WI, Dixon-water, Dixon-fat, susceptibility weighted imaging (SWI), blood oxygen level dependent (BOLD) images, and 396 texture features were extracted from each ROI. In the training set, intra-class correlation coefficient, Mann-Whitney U test, minimum redundancy maximum relevance and least absolute shrinkage and selection operator method were used to reduce the dimension of features to obtain the best texture features. The logistic regression was used to develop the multimodal radiomics model, and the receiver operating characteristic (ROC) curve was used to evaluate the effectiveness of the model in identifying high and low-grade ccRCC in training set and validation set. Results:Four SWI, one T 2WI and one BOLD texture features were selected for modeling. The areas under the ROC curve (95%CI) of the multimodal radiomics model for identifying high and low grade ccRCC in the training and validation sets were 0.859 (0.770-0.923) and 0.883 (0.740-0.964), with the specificity at 95.4% and 87.1%, the sensitivity at 68.0% and 87.5%, the accuracy at 87.8% and 87.2%, respectively. Conclusion:The multimodal MRI radiomics model based on T 2WI, SWI and BOLD images has high effectiveness in preoperative predicting Fuhrman nuclear grade of ccRCC.

Thyroid hormone metabolism defect caused by SECISBP2 gene mutation: a case report and literatures review / 中华内分泌代谢杂志

We reported the first case of a boy with selenocysteine insertion sequence binding protein 2 (SECISBP2) compound heterozygous mutation in China and provide a review of literatures to improve clinicians′ understanding of the thyroid hormone metabolism defect. Clinically, for children with growth retardation and delayed motor development, thyroid hormone metabolism deficiency should be considered if the thyroid function test shows normal or slightly elevated TSH, elevated T 4 and decreased T 3.

Study on the equity of resource allocation for health education in China from 2015-2019 based on Gini coefficient and Lorenz curve / 公共卫生与预防医学

Objective Health education resource allocation is one of the basic indicators for evaluating health equity. At present, the research on the equity of health education resource allocation in China is mostly limited to a single year or regional data. This study was aimed to understand the equity of health education resources in the whole China from 2015-2019, and to provide a corresponding basis for further rational allocation of health education resources. Methods The data was obtained based on the number of health education training work, health education publicity work, distribution of health education publicity materials and the annual use of funds carried out mainly by the CDC or health education centers in each province according to the 2016-2020 China Health Statistics Yearbook. The inequality coefficient (Gini coefficient) and Lorenz curve were applied to study the selected data. Results The total number of health education resources in China from 2015-2019 was 1 789 735 and 1 933 336, respectively. The Gini coefficients of health education resource allocation by population distribution were all below the warning line of 0.4, which were in an equitable state. Conclusion The equity of health education resources in China is good according to demographic indicators, and there is no significant inequity. Especially, the aspects of health education services, such as technical consultation and media cooperation, are relatively good, but there is still much room for improvement in the construction of websites.

The lesion characteristics and predictors of obstructive coronary artery disease with anatomy-function mismatch / 中华放射学杂志

Objective:To explore the lesion characteristics and predictors of invasive coronary angiography (ICA)-verified obstructive lesions with fractional flow reserve (FFR)>0.80, that is, anatomy-function mismatch.Methods:A total of 515 obstructive vessels in 419 coronary disease patients from 11 Chinese medical centers undergoing coronary CT angiography and ICA and FFR were retrospectively analyzed. All vessels had one target lesion with diameter stenosis ≥50 % by ICA. There were 229 vessels in the match group (FFR≤0.80) and 286 vessels in the mismatch group (FFR>0.80). The lesion characteristics including lesion territory, the distance of the coronary artery ostium to the proximal end of the lesion, minimum lumen area, reference lumen area, plaque length and burden, plaque volume and component volume, remodeling index and plaque morphological complexity were measured and compared between the two groups. Optimal thresholds of quantitative plaque characteristics were defined by Yoden index. Logistic regression analysis was used to analyze the predictors of anatomy-function mismatch. Area under receiver operating characteristic curve (AUC) was used to analyze the ability of different lesion features to predict mismatched lesions.Results:The coronary stenosis, plaque burden and length, plaque volume (including each component volume) in the mismatch group were smaller than those in the match group, and FFR, minimum lumen area were larger (all P<0.05). Left anterior descending artery (LAD) lesion and severe complex plaque were more common in the match group than the mismatch group with a statistically significant difference. Univariate logistic regression analysis showed that LAD lesion, minimum lumen area>4 mm 2, plaque burden and length, plaque calcification volume<27 mm 3, plaque lipid volume<30 mm 3, plaque fiber volume<150 mm 3 and plaque morphological complexity were predictiors of anatomic function mismatched lesions; Multivariate logistic regression showed that the minimum lumen area>4 mm 2 (OR=3.371, 95%CI 1.903-5.973, P<0.001), plaque lipid volume<30 mm 3 (OR=3.014, 95%CI 1.691-5.373, P<0.001), plaque morphological complexity (mild OR=17.772, 95%CI 8.072-39.128, P<0.001, moderate OR=6.383, 95%CI 3.739-10.896, P<0.001) were independent predictors of mismatched lesions. The AUC of the model based on the minimum lumen area, plaque lipid volume and morphological complexity was 0.824, which was superior to either of the plaque feature alone ( P<0.001). Conclusions:The minimum lumen area, lipid volume and plaque morphological complexity are independent predictors of the anatomical-functional mismatch lesions, and the combination can significantly improve the prediction value.

The role of quantitative plaque analysis and fractional flow reserve derived from coronary CT angiography in plaque progression / 中华放射学杂志

Objective:To explore the prognostic value of quantitative plaque analysis and coronary CT angiography (CCTA) derived fractional flow reserve (CT-FFR) in evaluating plaque progression (PP).Methods:A total of 118 consecutive patients who underwent serial CCTA examinations in Affiliated Hospital of Jiangnan University from December 2013 to December 2017 were retrospectively enrolled. There were 37 patients in the PP group and 81 patients in the non-PP group. All patients′ CCTA images were quantitatively analyzed using plaque analysis software. The quantitative analysis parameters included stenosis degree, plaque length, total plaque volume, calcified plaque volume, non-calcified plaque volume, minimum lumen area, remodeling index(RI) and plaque burden. Plaque progression was defined as plaque burden change rate>1%. CT-FFR analysis was performed using cFFR software and the CT-FFR value was measured at 2-4 cm distal to the coronary lesion. Baseline parameters between the two groups were evaluated using Students t-test, U-test, chi-square test. The logistic regression model was conducted to evaluate the relationship between CCTA derived parameters and PP. Receiver operating characteristic curve analysis with the areas under the curve (AUC) was used to determine the predictive performance of different CCTA parameters. Results:Compared with the non-PP group, the patients were older( t=2.391, P=0.018), the prevalence of hyperlipidemia was higher(χ2=4.550, P=0.033), and the proportion of statins use was lower (χ2=4.764, P=0.029) in the PP group. The PP group showed greater coronary stenosis, smaller minimum lumen area, larger plaque volume and non-calcified plaque volume, larger remodeling index and lower CT-FFR value on baseline CCTA (all P<0.05). Logistic regression analysis demonstrated that RI(OR=2.714, 95%CI:1.078-6.836)and CT-FFR (OR=2.940, 95%CI:1.215-7.116) were independent predictors of PP. The model based on CCTA stenosis degree, quantitative plaque features and CT-FFR (AUC 0.83, 95%CI: 0.75-0.90; P<0.001) was significantly better than the model based on CCTA stenosis degree (AUC 0.62, 95%CI: 0.52-0.70, P=0.049) and the model based on CCTA stenosis degree and quantitative plaque characteristics (AUC 0.77, 95%CI: 0.68-0.84, P<0.001). Conclusions:Compared with the prediction model derived on stenosis degree, plaque quantitative markers and CT-FFR can improve the prediction value of PP.RI and CT-FFR were important predictors of PP.

Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To summarize the clinical characteristics of two children with nonclassical 21 hydroxylase deficiency (NC-21OHD) due to variants of CYP21A2 gene promoter region.@*METHODS@#Clinical characteristics and the results of genetic testing were reviewed.@*RESULTS@#The main clinical manifestations of the two children included precocious puberty with poor bone age/progression control and menstrual disorder with hirsutism. Patient 1 had compound heterozygous variants for -126C>T, -113G>A, -110T>C and p.I173N; her mother was heterozygous for -126C>T, -113G>A and -110T>C, and her father was heterozygous for p.I173N. Patient 2 had compound heterozygous variants for -126C>T, -113G>A and p.I2G, whose mother was heterozygous for -126C>T and -113G>A, and father was heterozygous for p.I2G.@*CONCLUSION@#Diagnosis of NC-21OHD should be considered for children with hirsutism, menstrual disorder and poor bone age/progression control. The promoter region of CYP21A2 gene should be analyzed when no variant is detected in its coding regions.

Predicting the malignancy of pulmonary nodules using baseline chest CT: an application study of deep learning model / 中华放射学杂志

Objective@#To investigate whether a deep learning-based model using unenhanced computed tomography (CT) at baseline could predict the malignancy of pulmonary nodules.@*Methods@#A deep learning model was trained and applied for the discrimination of pulmonary nodule in Dr. Wise Lung Analyzer. This study retrospectively recruited 130 consecutive participants with pulmonary nodules detected on CT who undergoing biopsy or surgery from May 2009 to June 2017 in Jinling hospital. A total of 136 pulmonary nodules were included in this study, including 86 malignant nodules and 50 benign ones. All patients underwent CT scans 2 times at least, the first scan was defined as baseline and the last scan before the pathological results was defined as final scan. The ROC curve of deep learning model was plotted and the AUCs were calculated. Delong test was used to examine the difference of AUCs baseline and final scan. The nodules were further divided into subsolid nodule group (pure ground-glass nodule and part solid nodule) (n=87) and solid nodule group (n=49). The difference of AUCs at baseline and final scans was evaluated intra two groups.@*Results@#The AUCs of the deep learning model at final and baseline scans were 0.876 and 0.819, respectively. There was no significant difference between them (P=0.075). The result indicated that the model could predict the consequences of pulmonary nodules well at baseline. In small nodules (longest diameter ≤10mm), the AUC at final scan (0.847) was better than it at baseline scan (0.734), but there was no significant difference between them (P=0.058). In solid nodule group, The AUC at final scan (0.932) was better than it at baseline scan (0.835), but there was no significant difference between them (P=0.066). In subsolid nodule group, the deep learning model exhibited consistent performance at final scan (AUC, 0.759) with the baseline scan (AUC, 0.728, P=0.580).@*Conclusions@#The deep learning model could predict the malignancy of pulmonary nodules including small ones at baseline, and the model exhibited consistent performance between baseline and final scans in subsolid nodules.

The role of non?invasive fractional flow reserve derived from coronary CT angiography in assessing the hemodynamic relevance of myocardial bridging / 中华放射学杂志

Objective To evaluate the role of non?invasive fractional flow reserve (FFR) derived from coronary CT angiography (CCTA) in assessing the hemodynamic relevance of myocardial bridging (MB). Methods A total of 60 patients without obstructive coronary artery disease but with CCTA?confirmed MB of the left anterior descending coronary artery and 30 patients with negative CCTA findings as control group were retrospectively included in this study. The 60 patients with MB were divided into 2 groups (superficial and deep MB group) according to the depth of MB. Age and sex were matched among three groups. The location, length, depth, and degree of systolic compression of the MB were measured. The FFRCT values (including systolic and diastolic phases) were measured at three points (segments 1 to 2 cm proximal to a MB, mid?tunneled segment and segments 1 to 2 cm distal to the MB) by cFFR software. Patients with FFRCT<0.75 were deemed to have hemodynamic relevance (abnormal group). χ2 test, ANOVA test, Mann?Whitney U test, Kruskal?Wallis H test and logistic regression model were used for statistical analysis. Results The FFRCT values decreased from diastolic phase to systolic phase in deep MB group [0.90 (0.81-0.94) vs. 0.93 (0.91-0.97), Z=-2.172, P=0.03]. Compared to control group, the FFRCT values decreased in both diastolic phase and systolic phase in superficial MB group as well as deep MB group [systole 0.92 (0.90-0.94) control vs. 0.84 (0.77-0.88) superficial vs. 0.67 (0.50-0.88) deep, H=37.193, P<0.001; diastole 0.93 (0.89-0.94) control vs. 0.85 (0.73-0.92) superficial vs. 0.81 (0.65-0.87) deep, H=26.508, P<0.001]. Abnormal FFRCT values (<0.75) were found in 28 (47.7%) MB patients (9 superficial vs. 19 deep). The length (OR=1.067, 95% CI: 1.016-1.122, P=0.010) and depth (OR=2.028, 95%CI: 1.129-3.644, P=0.018) of MB were associated with the abnormal FFRCT values.Conclusions The FFRCT values of coronary artery distal to MB were lower than that without MB. Abnormal FFRCT values are more prevalent in deep MB. MB length and depth demonstrate moderate predictive value for an abnormal FFRCT value.

Apolipoprotein E polymorphism affects brain functional connectivity density in healthy young adults: a resting-state functional MRI / 中华放射学杂志

Objective To explore the aberrance of brain activity in healthy young adults with apolipoprotein E (APOE) ε2, ε3 and ε4 allele by the method of functional connectivity density(FCD). Method Two hundred and thirteen young healthy adults underwent the 3 T resting-state functional MRI, the neuropsychological tests and genotype testing for ε2, ε3 and ε4 allele. Age-and gender-matched individuals,including 14 subjects with APOE ε2,31 subjects with APOE ε4 and 31 subjects with APOE ε3 were enrolled for final analysis.FCD mapping was used to compare the brain functional connective networks among the three groups.All results were corrected with a Gaussian random field(GRF)(voxel-level of P<0.01 and joint cluster-level of P<0.05). Correlation analysis was performed between abnormal short-and long-range FCD values and neuropsychological scores. Results Compared with APOE ε3 carriers, the short-and long-range FCD values of APOE ε2 carriers were increased in the frontal lobe,particularly in the medial prefrontal lobe(37 voxels,t=3.54),anterior cingulate cortex(36 voxels,t=3.19)and orbital frontal cortex(41 voxels, t=3.72), while APOE ε4 carriers showed decreased short-range FCD in the bilateral cuneus(38 voxels, t=-3.68). Moreover, the long-range FCD values of APOE ε4 group were decreased in right orbital frontal cortex(46 voxels,t=-4.56)and increased in the right inferior parietal lobe(31 voxels,t=3.49)compared with that of APOE ε2 group. No significant correlation was detected with Bonferroni correction. Conclusions The opposite FCD alteration in cuneus and inferior parietal lobe might be the early existence of inhibitory and compensatory mechanism modulated by the ε4 allele in the young age, while the increased FCD in frontal lobe might be the underlying protective mechanism of delaying the onset of Alzheimer's disease.

Imaging features of cerebral small vessel disease in systemic lupus erythematosus patients with impaired renal function and its associated risk factors / 中华放射学杂志

Objective@#To investigate the imaging features of cerebral small vessel disease(SVD) in systemic lupus erythematosus(SLE) patients with impaired renal function and their related risk factors.@*Methods@#Seventy-six SLE patients and forty age- and sex-matched healthy controls were recruited, and SLE patients were divided into the impaired renal function group [estimated glomerular filtration rate (eGFR) <90 ml/(min·1.73 m2)] (n=38) and the normal renal function group [eGFR≥90 ml/(min·1.73 m2)] (n=38) according to their eGFR. All subjects underwent brain MRI, cognitive and psychiatric testing. The SVD scores were measured, total white matter hyperintensity (WMH) and SVD scores were calculated, and the risk factors of SVD scores were analyzed by using ordinal logistic regression.@*Results@#SLE patients in the impaired renal function group showed higher basal ganglia PVS, centrum semiovale perivascular space (PVS), periventricular WMH, deep WMH and total SVD scores compared with normal controls or patients with normal renal function (H=44.568, 31.380, 31.172, 43.419, 24.317, P<0.001) . The ordinal logistic regression analysis showed that C-reactive protein was a risk factor for SVD in patients with SLE(OR=1.323, P<0.01).@*Conclusion@#SLE patients with impaired renal function had a higher SVD burden on MR imaging, particularly PVS in the basal ganglia and deep WMH, which was affected by the C-reactive protein level.

New phenotype caused by a NR5A1 heterozygous mutation—— 46, XX disorder of sex development / 中华内分泌代谢杂志

Objective To summarize the clinical manifestations of 46, XX ovotesticular disorder of sex development (DSD) caused by a NR5A1 heterozygous mutation. Methods The first case of 46,XX ovotesticular DSD was caused by a NR5A1 heterozygous mutation in China and was reported with a review of 11 similar cases in the literatures since July 2016. Results A 5. 6-year-old child raised as female was born with ambiguous genitalia. The left gonad was palpable in the inguinal region while the right one was located in abdomen. Gonadal histology showed both ovotestis. Vaginoscopy revealed a short, blind-ending vagina. No uterine was detected by laparoscopy. Repeated karyotype results were 46, XX with SRY gene negative. A heterozygous de novo mutation ( p. Arg92Trp) in the accessory DNA-binding region of NR5A1 gene was found in that child. Conclusions We reported for the first time in China a new phenotype caused by a NR5A1 heterozygous mutation-46,XX ovotesticular DSD. According to the review of literatures, such mutation seemed with incomplete penetrance. It could cause both 46, XX DSD and 46, XY DSD with varied manifestations. The possible underlying mechanism might relate to the impairment of the binding between the mutant protein and target DNA which might lead to a decreased inhibition of the male developmental pathway through downregulation of female antitestis genes.

New phenotype caused by a NR5A1 heterozygous mutation—— 46, XX disorder of sex development / 中华内分泌代谢杂志

Objective To summarize the clinical manifestations of 46, XX ovotesticular disorder of sex development (DSD) caused by a NR5A1 heterozygous mutation. Methods The first case of 46,XX ovotesticular DSD was caused by a NR5A1 heterozygous mutation in China and was reported with a review of 11 similar cases in the literatures since July 2016. Results A 5. 6-year-old child raised as female was born with ambiguous genitalia. The left gonad was palpable in the inguinal region while the right one was located in abdomen. Gonadal histology showed both ovotestis. Vaginoscopy revealed a short, blind-ending vagina. No uterine was detected by laparoscopy. Repeated karyotype results were 46, XX with SRY gene negative. A heterozygous de novo mutation ( p. Arg92Trp) in the accessory DNA-binding region of NR5A1 gene was found in that child. Conclusions We reported for the first time in China a new phenotype caused by a NR5A1 heterozygous mutation-46,XX ovotesticular DSD. According to the review of literatures, such mutation seemed with incomplete penetrance. It could cause both 46, XX DSD and 46, XY DSD with varied manifestations. The possible underlying mechanism might relate to the impairment of the binding between the mutant protein and target DNA which might lead to a decreased inhibition of the male developmental pathway through downregulation of female antitestis genes.

A novel mutation of the androgen receptor gene causes androgen insensitivity syndrome:a case report and literature review / 中华实用儿科临床杂志

Objective To explore the mutation of androgen receptor(AR)gene in a patient with 46,XY disorder of sex development(DSD)and to improve the diagnostic level and understanding of androgen insensitivity syndrome(AIS).Methods The clinical data of the child was analyzed,including physical examination,relevant laboratory examination,karyotype,pelvic B ultrasound,pelvic magnetic resonance imaging(MRI)and AR gene mutation.The peripheral blood of the child and his parents were drawn,and peripheral blood DNA was extracted.The polymerase chain reaction(PCR)-DNA sequencing method was used to amplify all exons of the AR gene in the child and his parents.Then,they were directly sequenced.Results A 7-years and 2-months old child who suffered from DSD,revealed physical examination that the child had normal female external genitalia,as the clitoris length was 2.0 cm×0.8 cm,with visible vaginal opening,and there were masses at bilateral inguinal region,with a size of 1.5 cm×0.8 cm.The results of human chorionic gonadotropin(HCG)stimulation test:testosterone was 0 nmol/L,androstenedione was 1.78 nmol/L,dihydrotestosterone was 0.07 nmol/L before HCG was injected;but testosterone was 4.69 nmol/L,androstenedione was 2.10 nmol/L,dihydrotestosterone was 0.33 nmol/L after HCG was injection.Sex chromosome analysis reported 46,XY karyotype.Pelvic B ultrasound revealed the absence of a uterus and ovaries and the presence of bilateral testes like gonad at each side of internal inguinal ring,with a size of 1.4 cm×1.0 cm×0.8 cm in the left,1.5 cm×0.7 cm×0.8 cm in the right;but the kidney,ureter,urinary bladder,adrenal gland and retroperitoneal for B ultrasound revealed no abnormality.Pelvic MRI(non-enhanced and enhanced)showed the presence of a blind ending vagina between rectum and urinary bladder(40 mm in depth)and the absence of uterus and ovarian tissue.DNA sequencing found one c.1685T>C heterozygous mutation(p.Ile562Thr)on exon 2 of AR gene in the child.But retrieving and summarzing documents of the domestic and foreign information databases and websites,the locus mutation of AR gene had never been reported.The structure prediction of the mutated protein(Polyohen2 and SIFT software)was significantly changed.By verifying the locus site of the parents of this child,it was found that his mother carried the same mutation,but his father was found to be normal.Conclusions A c.1685 T>C mutation(p.Ile562Thr)on exon 2 of AR gene is a novel mutation.Combined with the patient's clinical manifestations and computer prediction results,it may suggest that the novel mutation of AR gene can lead to the occurrence of AIS.

Over-expression of SCUBE2 suppresses epithelial-mesenchymal transition through Wnt/β-catenin signaling pathway in colorectal cancer cells / 中国病理生理杂志

AIM: To study the effect of SCUBE2 on epithelial-mesenchymal transition (EMT) in colorectal cancer cells and its mechanism .METHODS:The expression of SCUBE2 in human colorectal cancer cell line HCT 116 and normal colonic cell line FHC was detected by real-time PCR and Western blot .HCT116 cells were transfected with GV144-SCUBE2 to over-express SCUBE2, and then the cell viability, migration, and apoptosis were determined by MTT assay , Transwell assay and flow cytometry, respectively.The expression of EMT markers (E-cadherin, vimentin, and Snail),β-catenin, c-Myc and cyclin D1 in the HCT116 cells was analyzed by real-time PCR or Western blot after transfection with GV144-SCUBE2 for 6 h, followed by the stimulation of 10 μg/L recombinant TGF-β1 protein for 48 h.Additionally, the EMT process of HCT116 cells, which were stimulated by TGF-β1, over-expressed SCUBE2, and treated with Wnt/β-cate-nin pathway activator lithium chloride ( LiCl) or inhibitor XAV93920, was analyzed by Western blot .RESULTS: Com-pared with FHC cells , the expression of SCUBE 2 in the HCT116 cells was significantly decreased .The viability and migra-tion ability of the HCT116 cells were suppressed by SCUBE2 over-expression, but the apoptosis was not markedly changed . Elevated expression of SCUBE2 increased E-cadherin expression, and decreased the expression of vimentin, Snail,β-cate-nin, c-Myc and cyclin D1 induced by TGF-β1.Treatment with LiCl blocked but treatment with XAV 93920 enhanced the effects of SCUBE2 on EMT.CONCLUSION:Over-expression of SCUBE2 may inhibit the cell growth and migration , and suppress EMT through Wnt/β-catenin signaling pathway .

The clinical value of 99 Tc m-DTPA renal dynamic imaging in evaluating the function of transplanted kidney by GFR after transplantation / 医学研究生学报

Objective How to examine the function of transplanted kidney more accurately and sensitively has become a fo?cus of clinical attention.This study was to investigate the value of 99Tcm?DTPA renal dynamic imaging in evaluating the function of trans?planted kidney by glomerular filtration( GFR) after transplantation. Methods Patients were collected from August 2015 to January 2016 in Nanjing General Hospital of Nanjing Military Region. GFR was measured in 74 cases of kidney transplantation patients using the 99Tcm?DTPA renal dynamic imaging.According to the range of serum creatinine,we divided the 74 cases into two groups:the normal group( n=17) and abnormal group( n=57) . We analysed the GFR between two groups and the correlation of GFR and serum creatinine .Transplanted kidney puncture biopsy was operated in 55 patients. We analysed the pathological results and compared the GFR. Results Compared with the abnormal group (GFR=37.7±15.4 mL/min),the average GFR was higher in the normal group(GFR =61.7±15.6 mL/min)(P<0.001). The average GFR(43.2±18.4 mL/min) measured by 99Tcm?DTPA renal dynamic imaging in 74 cases was positive correlated with average serum creatinine(1.84±0.82 mg/dL)(r=-0.673, P<0.001).Compared with patients with abnormal pathological results(GFR=39.6±16.5mL/min), normal people had higher average GFR ( GFR=59. 2 ± 8. 5 mL/min ) ( P=0. 040 ) . Conclusion 99 Tcm?DTPA renal dynamic imaging can reflect the function of transplanted kidney sensitively, it is one of the noninvasive examination to monitor the function in transplanted kidney.

Arterial spin labeling analysis of the cerebral blood flow in systemic lupus erythematosus patients / 医学研究生学报

Objective Neuropsychiatric systemic lupus erythematosus ( SLE) is a common complication of SLE, whose path-ogenesis is not yet clear but associated with the alteration of cerebral blood flow ( CBF) in some studies.This study was to investigate the CBF alteration in SLE patients without overt neuropsychiatric symptoms by arterial spin labeling ( ASL) MRI. Methods Twenty-eight SLE patients without overt neuropsychiatric symptoms and 30 age-and sex-matched healthy controls underwent conventional MRI and ASL examinations, and all received such neuropsychologic tests as number connecting test-A ( NCT-A ) , digit symbol test ( DST ) , self-rating anxiety scale ( SAS ) , and self-rating depression scale ( SDS) .Independent sample-t test was used to detect the mean CBF in the whole brain, gray matter, and white matter of the SLE patients and healthy controls.The voxel-wise CBF maps of the two groups of subjects were further analyzed with the SPM8 software to compare the regional CBF between the two groups, followed by evaluation of the correlation between the regional CBF values and clinical markers. Results In comparison with the healthy controls, the SLE pa-tients showed significantly reduced CBF in the gray matter (40.5 ±3.7 vs 37.3 ±6.5, P=0.028) and the whole brain (38.0 ±3.5 vs 35.1 ±6.1, P=0.032), especially in the supplementary motor area and the adjacent middle cingulate, anterior cingulate, left medial frontal gyrus, left inferior frontal gyrus, and left insula (P<0.05, FWE corrected).The NCT-A score was negatively correlated with the CBF values of the left medial frontal gyrus (r=-0.402, P=0.032) and left inferior frontal gyrus (r=-0.382, P=0.045) of the SLE patients. Conclusion ASL and MRI showed significantly reduced cerebral blood flow in the SLE patient without overt neu-ropsychiatric manifestations, which was correlated with the change of the patient's cognitive function.

Establishment of animal model of chronic thromboembolic pulmonary hypertension and dual-energy CT imaging / 中华放射学杂志

Objective To establish the animal model of chronic thromboembolic pulmonary hypertension(CTEPH) and to compare the accuracy of dual-energy CT (DECT) pulmonary angiography and histopathology for detecting CTEPH. Methods Eighteen canines were included in the study. All canines underwent paracentesis, embolization, CT scanning, pressure measurement and tranexamic acid feeding. The procedures were repeated every two weeks, until systolic/diastolic pressure in canines was≥30/15 mmHg or mean pulmonary artery pressure ≥ 20 mmHg.And then canines were sacrificed for histopathology examination. For CT pulmonary angiography (CTPA)in DE mode and DECT lung perfused blood volume (Lung PBV) images, the presence or absence of PE or perfusion defects were recorded on a per-canineand aper-lobe basis. With histopathological results as reference standard, the sensitivity, specificity of CTPA and lung PBV to detect PE were computed for two readers. The pairedχ2 test (McNemar test) was used to analyze the difference in diagnostic accuracy between CTPA and Lung PBV. Inter-reader agreement was also calculated with kappa test. Results CTEPH was demonstrated in 13 canines. On a per-canine basis, both readers found uneven and peripheral perfusion defects with DECT in 11 canines (84.6%, 11/13); while 5 canines (38.5%, 5/13) had cutoff or sudden stenosis of pulmonary arteries with CTPA;on a per-lobe basis, both readers had sensitivities of 14.3%(5/35), 83.3%(30/36), specificities of 100.0%(30/30), 100.0%(29/29), accuracies of 53.8%(35/65), 90.8%(59/65)for CTPA and DECT, respectively. DECT had a higher sensitivity(χ2=-4.690,P<0.01)and accuracy(χ2=8.284,P<0.01) in detecting CTEPH. Excellent and moderate inter-reader agreements were observed with CTPA and DECT (Kappa=0.938, 0.572, both P<0.001). Conclusions It is feasible to make a CTEPH animal model with autologous thrombus. DECT shows a higher accuracy than CTPA to detect CTEPH in this canine model study.

Image features of primary retrograde type A aortic dissection by CT angiography / 中国综合临床

Objective To summarize the image features of primary retrograde type A aortic dissection by CTA examination, aiming to improve the precise diagnosis of this type of specific aortic dissection, and to provide imaging evidence for subsequent therapies.Methods The CTA data of 17 patients with primary retrograde type A aortic dissection treated in Cardiothoracic Surgery Department of Nanjing General Hospital of Nanjing Military Command from January 2010 to December 2014 were retrospectively reviewed.The image features including the dissection type, the location and quantity of intimal tear, the aorta involving area, and the origin of branch vessels were analyzed.Results Nine cases of the total 17 patients had pericardial/pleural effusion.Fourteen patients showed intramural hematoma in ascending aorta, while 3 patients showed active blood flow and thrombosis formation in false lumen of ascending aorta.Five patients showed aortic ulcers and intramural hematoma in descending aorta, and the other 12 patients showed typical dissection image with active blood flow in both true and false lumen,among the 12 patients, there were obvious intimal separations observed in 11 cases, while multiple aortic ulcers in 1 case.Abdominal aorta was involved in l0 cases of the above 11 patients.All of the abdominal branch vessels were originated from true lumen in 2 of the 10 patients,and the other 8 patients showed 1-2 vessels originated from false lumen.Conclusion Primary retrograde type A aortic dissection is relatively rare.However,specific imaging features different from typical aortic dissection can be observed in this type of aortic lesion.Careful viewing of CTA image is extremely necessary for accurate diagnosis.