Objective To investigate the relationship between cerebral white matter fractional anisotropy(FA)and metabolite con-centrations measured by 1 H magnetic resonance spectroscopy(1 H-MRS)in healthy adults.Methods Diffusion tensor imaging(DTI) and 1 H-MRS were acquired from thirty-one healthy adults at 3.0 T MR system.The concentrations of N-acetylaspartate(NAA), choline(Cho),creatine(Cr),the ratios of NAA/Cr and FA values of DTI were measured in 353 voxels,covering the bilateral medium corona radiata.According to the age,all voxels were divided into two groups:the senior group (mean age=29 years),and the senior group(mean age=5 6 years).The correlations between FA values and age were analyzed using Pearson’s correlation coefficients.The correlations between FA values and metabolite concentrations were estimated using partial correlations test controlling for the age re-lated bias.Results Pearson’s correlation analysis revealed a negative correlation between FA values and age in 353 voxels(r=-0.146,P<0.05),senior group(r=-0.204,P<0.05)and senior group(r=-0.162,P<0.05).Only the correlation between NAA and FA values were significant(r=0.339,P<0.05;r=0.213,P<0.05;r=0.430,P<0.05).There were positive relation-ships between FA values and NAA/Cr among 353 voxels (r=0.166,P<0.05)and senior group(r=0.305,P<0.05).Conclusion There are correlations between cerebral white matter FA values and metabolite concentrations measured by 1 H-MRS .Combining 1 H-MRS with DTI can reveal the relationship between microscopic white matter integrity and metabolic characteristics of the white matter.

Objectives To discuss the characteristics of late gadolinium enhancement (LGE) magnetic resonance (MR) imaging in patients with hypertrophic cardiomyopathy (HCM) and left ventricular apical aneurysm (LVAA) and its related prognostic value. Methods Thirty HCM patients with LVAA were collected from August 2004 to August 2013. All cases with coronary artery diseases were ruled out, and all patients underwent LGE derived by cardiac MR (CMR). Five cases of LVAA were pathological confirmed. Atrial and ventricular diameters, apical aneurysm diameters and left ventricular ejection fraction were measured, and apical aneurysm LGE was evaluated. All patients were then followed up. Comparisons in continuous parameters between patients with or without LGE were performed by independent t test. A Cox proportional hazard model was used to estimate the hazard rate for adverse cardiovascular events. Results LGE was identified in 21 LVAAs and non-LGE in 9 LVAAs. Between two groups, there was no significant difference in the size of LVAA [(16.4 ± 11.5) mm vs. (20.3 ± 9.8) mm, P=0.63]. In particular, the complete transition from non-LGE to LGE LVAA was recorded during follow-up in one patient. Pathological findings confirmed that LGE indicated fibrous tissue in LVAA, and LVAA without LGE indicated viable myocardium. The follow-up suggested that the patterns and the size of LVAA were associated with the adverse events in these patients (LGE of LVAA, HR=7.94, P=0.064; the size of LVAA, HR=1.08, P=0.009). Conclusions LGE-MR had important clinical significance in HCM patients with LVAA. LGE in LVAA corresponded with the fibrous tissue and was associated with the prognosis.

Objective To clarify the MRI characteristics and outcomes of patients with end stage hypertrophic cardiomyopathy (ES-HCM).Methods Clinical and MRI data of 57 ES-HCM patients were retrospectively analyzed.ES-HCM pa tients were divided into dilated phenotype group (D-ES group,n=39) and restrictive phenotype group (R-ES group,n=18).MRI characteristics and outcomes of patients were compared between both groups.Results The incidence of atrial fi brillation and edema of lower extremity was significantly higher in R-ES than those in D-ES (72.22％ [13/18] vs 30.77％ [12/39];50.00％ [9/18] vs 23.08％ [9/39];both P＜0.05).The left ventricular ejection function,left and right atrial anteroposte rior diameter of D-ES group were significant smaller than those of RRES group (all P＜0.05),while the left ventricular (LV) short axis diameter,LV end diastolic/systolic volume and LV end diastolic/systolic volume index of D-ES were significantly greater than those of R-ES group (all P＜0.05).Log-rank test found no significant difference between both groups in cardiovascular death/ heart transplant events (x2 =1.135,P=0.287).Late gadolinium enhancement (LGE) volume fraction was significantly larger in D-ES ([36.1±14.8]％) than in R-ES ([21.0±9.0]％;P＜0.05).There was a significant correlation between LGE volume fraction and cardiovascular death/heart transplant events (HR:1.054,P＜0.05).Conclusion ES-HCM patients have expanded clinical expression and MRI characteristics,including dilated phenotype and restrictive phenotype.MRI has an important application value in the diagnosis and prognosis evaluation of ES-HCM.

OBJECTIVE: To explore the clinical and genetic features of an infant with citrin deficiency (CD). METHODS: Clinical data of the patient was collected and analyzed. Genomic DNA was extracted from peripheral blood samples collected from the patient and her parents. Targeted exome sequencing was performed to explore the genetic cause, and Sanger sequencing was used to confirm the detected variants. SLC25A13 mRNA was extracted from peripheral blood lymphocytes of the infant. The effect of novel mutation of SLC25A13 was analyzed by reverse transcription-PCR, cDNA cloning and Sanger sequencing. RESULTS: The SLC25A13 genotype of the patient was determined as c.845_c.848+1delG/c.1841+3_1841+4delAA, with the latter having not been reported. The mutation has affected the splicing of the SLC25A13 mRNA, giving rise to an aberrant transcript [r.1841_1842ins1841+1_1841+67; 1841+3_c.1841+4del]. CONCLUSION A novel SLC25A13 mutation c.1841+3_1841+4delAA and the resultant abnormal splicing variant were discovered by combined DNA sequencing and cDNA cloning. The finding has enabled definite diagnosis of CD and enriched the spectrum of SLC25A13 mutations.
Base Sequence ; Citrullinemia ; Female ; Humans ; Mitochondrial Membrane Transport Proteins ; genetics ; Mutation ; Pedigree

OBJECTIVE: Segmented cardiac cine magnetic resonance imaging (MRI) is the gold standard for cardiac ventricular volumetric assessment. In patients with difficulty in breath-holding or arrhythmia, this technique may generate images with inadequate quality for diagnosis. Real-time cardiac cine MRI has been developed to address this limitation. We aimed to assess the performance of retrospective electrocardiography-gated real-time cine MRI at 3T for left ventricular (LV) volume and mass measurement. MATERIALS AND METHODS: Fifty-one patients were consecutively enrolled. A series of short-axis cine images covering the entire left ventricle using both segmented and real-time balanced steady-state free precession cardiac cine MRI were obtained. End-diastolic volume (EDV), end-systolic volume (ESV), stroke volume (SV), ejection fraction (EF), and LV mass were measured. The agreement and correlation of the parameters were assessed. Additionally, image quality was evaluated using European CMR Registry (Euro-CMR) score and structure visibility rating. RESULTS: In patients without difficulty in breath-holding or arrhythmia, no significant difference was found in Euro-CMR score between the two techniques (0.3 ± 0.7 vs. 0.3 ± 0.5, p > 0.05). Good agreements and correlations were found between the techniques for measuring EDV, ESV, EF, SV, and LV mass. In patients with difficulty in breath-holding or arrhythmia, segmented cine MRI had a significant higher Euro-CMR score (2.3 ± 1.2 vs. 0.4 ± 0.5, p < 0.001). CONCLUSION: Real-time cine MRI at 3T allowed the assessment of LV volume with high accuracy and showed a significantly better image quality compared to that of segmented cine MRI in patients with difficulty in breath-holding and arrhythmia.
Arrhythmias, Cardiac ; Diagnosis ; Heart Ventricles ; Humans ; Magnetic Resonance Imaging ; Magnetic Resonance Imaging, Cine* ; Retrospective Studies* ; Stroke Volume

Objective To explore the prevalence,MRI characteristics and clinical evaluation of hypertrophic cardiomyopathy(HCM) patients with infarct-like late enhancement(LGE).Methods HCM patients were diagnosed via cardiac magnetic resonance(CMR) from October,2009 to December,2013.1 411 HCM patients were diagnosed via CMR,465 patients with LGE,of which 24 patients with infarct-like LGE (primarily in the subendocardium).Clinical and MRI data of patients demonstrating infarct-like LGE were retrospectively analyzed.All the HCM patients with LGE were followed up in the clinic or by telephone interview.Major adverse cardiovascular events(MACE) were defined as malignant ventricular arrhythmia events,including sudden cardiac death,ventricular tachycardia/fibrillation,implantable cardioverter defibrillator(ICD) discharge and heart failure events,including death from heart failure,heart transplantation.The correlation between left ventricle ejection fraction and subendocardial LGE volume fraction was evaluated by Pearson correlation analysis.Comparison of subendocardial LGE volume fraction between obstructed and non-obstructed left ventricular outflow tract (LVOT) group was performed using independent sample t test.Prognosis of patients with infarct-like LGE and other LGE patterns was compared using Kaplan-Meier curves.Results The prevalence of infarct-like LGE were 0.05％(24/465) among patients with LGE.Mean left venricle ejection fraction(LVEF) was (56.20±3.60)％ and mean LGE volume fraction was (14.52 ± 12.73)％.According to the American Heart Association (AHA) 17-segment model,infarct-like LGE was most frequent in 14 segment(10 patients),followed by 9,15 (8 patients,respectively) and 3,8,16 (7 patients,respectively) segments,mainly distributed in left ventricular septum and apical portion.EF value was inversely correlated with mean LGE volume fraction(r=-0.85,P＜0.05).Mean follow up time was (4.25t± 1.35) years for all the HCM patients with LGE,and event-free survival rate was lower in HCM patients with infarct-like LGE than patients with other LGE patterns(P＜0.001).Conclusions Infarct-like LGE is a special manifestation in HCM patients,which shows worse prognosis than other LGE patterns.Infarct-like LGE volume fraction is associated with LVEF and LVOT.

China ; Education, Medical/history* ; History, 20th Century ; Humans ; Laboratories, Hospital/history* ; Portraits as Topic

Objective To investigate the application efficiency and potential of CT radiomics in differentiating malignant and benign sub-centimeter solid pulmonary nodules. Methods A retrospective study was performed on the sub-centimeter ( ≤ 10 mm) solid pulmonary nodules detected by enhanced CT in our hospital from March 2020 to January 2023. Malignancy was confirmed by surgical pathology, and benignity was confirmed by surgical pathology or follow-up. Lesions were manually segmented and radiomic features were extracted. The feature dimension was reduced via feature correlation analysis and least absolute shrinkage and selection operator (LASSO). The 5-fold cross validation was used to validate the model. Support vector machine, logistic regression, linear classification support vector machine, gradient boosting, and random forest models were established for CT radiomics. Receiver operating characteristic curves were drawn. Delong test was used to compare the diagnostic performance of the five classifiers. The optimal model was selected and compared to radiologists with medium and high seniority. Results A total of 303 nodules, 136 of which were malignant, were examined. Radiomics models were established after feature extraction and selection. On test set, the areas under the receiver operating characteristic curves of support vector machine, logistic regression, linear classification support vector machine, random forest, and gradient boosting models were 0.922 (95%CI: 0.893, 0.950), 0.910 (95%CI: 0.878, 0.942), 0.905 (95%CI: 0.872, 0.938), 0.899 (95%CI: 0.865, 0.933), and 0.896 (95%CI: 0.862, 0.930), respectively. Delong test indicated no significant differences in the performance of the five radiomics models, and the support vector machine model showed the highest accuracy and F1 score. The support vector machine model showed significantly higher diagnostic accuracy as compared to radiologists (83.8% vs. 55.4%, P < 0.001). Conclusion The radiomics models achieved high diagnostic efficiency and may help to reduce the uncertainty in diagnosis of malignant and benign sub-centimeter solid nodules by radiologists.

Objective: To analyze the clinical epidemiological characteristics including composition of pathogens , clinical characteristics, and disease prognosis acute bacterial meningitis (ABM) in Chinese children. Methods: A retrospective analysis was performed on the clinical and laboratory data of 1 610 children <15 years of age with ABM in 33 tertiary hospitals in China from January 2019 to December 2020. Patients were divided into different groups according to age,<28 days group, 28 days to <3 months group, 3 months to <1 year group, 1-<5 years of age group, 5-<15 years of age group; etiology confirmed group and clinically diagnosed group according to etiology diagnosis. Non-numeric variables were analyzed with the Chi-square test or Fisher's exact test, while non-normal distrituction numeric variables were compared with nonparametric test. Results: Among 1 610 children with ABM, 955 were male and 650 were female (5 cases were not provided with gender information), and the age of onset was 1.5 (0.5, 5.5) months. There were 588 cases age from <28 days, 462 cases age from 28 days to <3 months, 302 cases age from 3 months to <1 year of age group, 156 cases in the 1-<5 years of age and 101 cases in the 5-<15 years of age. The detection rates were 38.8% (95/245) and 31.5% (70/222) of Escherichia coli and 27.8% (68/245) and 35.1% (78/222) of Streptococcus agalactiae in infants younger than 28 days of age and 28 days to 3 months of age; the detection rates of Streptococcus pneumonia, Escherichia coli, and Streptococcus agalactiae were 34.3% (61/178), 14.0% (25/178) and 13.5% (24/178) in the 3 months of age to <1 year of age group; the dominant pathogens were Streptococcus pneumoniae and the detection rate were 67.9% (74/109) and 44.4% (16/36) in the 1-<5 years of age and 5-<15 years of age . There were 9.7% (19/195) strains of Escherichia coli producing ultra-broad-spectrum β-lactamases. The positive rates of cerebrospinal fluid (CSF) culture and blood culture were 32.2% (515/1 598) and 25.0% (400/1 598), while 38.2% (126/330)and 25.3% (21/83) in CSF metagenomics next generation sequencing and Streptococcus pneumoniae antigen detection. There were 4.3% (32/790) cases of which CSF white blood cell counts were normal in etiology confirmed group. Among 1 610 children with ABM, main intracranial imaging complications were subdural effusion and (or) empyema in 349 cases (21.7%), hydrocephalus in 233 cases (14.5%), brain abscess in 178 cases (11.1%), and other cerebrovascular diseases, including encephalomalacia, cerebral infarction, and encephalatrophy, in 174 cases (10.8%). Among the 166 cases (10.3%) with unfavorable outcome, 32 cases (2.0%) died among whom 24 cases died before 1 year of age, and 37 cases (2.3%) had recurrence among whom 25 cases had recurrence within 3 weeks. The incidences of subdural effusion and (or) empyema, brain abscess and ependymitis in the etiology confirmed group were significantly higher than those in the clinically diagnosed group (26.2% (207/790) vs. 17.3% (142/820), 13.0% (103/790) vs. 9.1% (75/820), 4.6% (36/790) vs. 2.7% (22/820), χ²=18.71, 6.20, 4.07, all P<0.05), but there was no significant difference in the unfavorable outcomes, mortility, and recurrence between these 2 groups (all P>0.05). Conclusions: The onset age of ABM in children is usually within 1 year of age, especially <3 months. The common pathogens in infants <3 months of age are Escherichia coli and Streptococcus agalactiae, and the dominant pathogen in infant ≥3 months is Streptococcus pneumoniae. Subdural effusion and (or) empyema and hydrocephalus are common complications. ABM should not be excluded even if CSF white blood cell counts is within normal range. Standardized bacteriological examination should be paid more attention to increase the pathogenic detection rate. Non-culture CSF detection methods may facilitate the pathogenic diagnosis.
Adolescent ; Brain Abscess ; Child ; Child, Preschool ; Escherichia coli ; Female ; Humans ; Hydrocephalus ; Infant ; Infant, Newborn ; Male ; Meningitis, Bacterial/epidemiology* ; Retrospective Studies ; Streptococcus agalactiae ; Streptococcus pneumoniae ; Subdural Effusion ; beta-Lactamases