Disrupted Topological Organization of White Matter Network in Angelman Syndrome.

BACKGROUND: Angelman syndrome (AS) is a genetic disorder that affects neurodevelopment. The investigation of changes in the brain white matter network, which would contribute to a better understanding of the pathogenesis of AS brain, was lacking. PURPOSE: To investigate both local and global alterations of white matter in patients with AS. STUDY TYPE: Prospective. SUBJECTS: A total of 29 AS patients (6.6 ± 1.4 years, 15 [52%] females) and 19 age-matched healthy controls (HC) (7.0 ± 1.5 years, 10 [53%] females). FIELD STRENGTH/SEQUENCE: A 3-T, three-dimensional (3D) T1-weighted imaging by using gradient-echo-based sequence, single shell diffusion tensor imaging by using spin-echo-based echo-planar imaging. ASSESSMENT: Network metrics including global efficiency (Eg ), local efficiency (Eloc ), small world coefficient (Swc), rich-club coefficient (Φ), and nodal degree (ND) were estimated from diffusion MR (dMR) data. Connections among highly connected (hub) regions and less connected (peripheral) regions were also assessed. Correlation between the topological parameters and age for each group was also calculated to assess the development of the brain. STATISTICAL TESTS: Linear regression model, permutation test. P values estimated from the regression model for each brain region were adjusted by false discovery rate (FDR) correction. RESULTS: AS patients showed significantly lower Eg and higher swc compared to HC. Φn significantly increased at higher k-levels in AS patients. In addition, the connections among hub regions and peripheral regions were significantly interrupted in AS patients. DATA CONCLUSION: The AS brain showed diminished connectivity, reflected by reduced network efficiency compared to HC. Compared to densely connected regions, less connected regions were more vulnerable in AS. EVIDENCE LEVEL: 2 TECHNICAL EFFICACY: Stage 3.

The uncovered biases and errors in clinical determination of bone age by using deep learning models.

OBJECTIVES: To evaluate AI biases and errors in estimating bone age (BA) by comparing AI and radiologists' clinical determinations of BA. METHODS: We established three deep learning models from a Chinese private dataset (CHNm), an American public dataset (USAm), and a joint dataset combining the above two datasets (JOIm). The test data CHNt (n = 1246) were labeled by ten senior pediatric radiologists. The effects of data site differences, interpretation bias, and interobserver variability on BA assessment were evaluated. The differences between the AI models' and radiologists' clinical determinations of BA (normal, advanced, and delayed BA groups by using the Brush data) were evaluated by the chi-square test and Kappa values. The heatmaps of CHNm-CHNt were generated by using Grad-CAM. RESULTS: We obtained an MAD value of 0.42 years on CHNm-CHNt; this result indicated an appropriate accuracy for the whole group but did not indicate an accurate estimation of individual BA because with a kappa value of 0.714, the agreement between AI and human clinical determinations of BA was significantly different. The features of the heatmaps were not fully consistent with the human vision on the X-ray films. Variable performance in BA estimation by different AI models and the disagreement between AI and radiologists' clinical determinations of BA may be caused by data biases, including patients' sex and age, institutions, and radiologists. CONCLUSIONS: The deep learning models outperform external validation in predicting BA on both internal and joint datasets. However, the biases and errors in the models' clinical determinations of child development should be carefully considered. KEY POINTS: • With a kappa value of 0.714, clinical determinations of bone age by using AI did not accord well with clinical determinations by radiologists. • Several biases, including patients' sex and age, institutions, and radiologists, may cause variable performance by AI bone age models and disagreement between AI and radiologists' clinical determinations of bone age. • AI heatmaps of bone age were not fully consistent with human vision on X-ray films.

Imaging features of juvenile xanthogranuloma.

BACKGROUND: Juvenile xanthogranuloma is rare in children and there are limited data on its imaging features. OBJECTIVE: To analyze the computed tomography (CT) and magnetic resonance imaging (MRI) features of juvenile xanthogranuloma in children. MATERIALS AND METHODS: A retrospective review was performed of clinical and radiographic data of histologically confirmed juvenile xanthogranuloma between January 2009 and June 2020. RESULTS: Fourteen children (4 girls, 10 boys; age range: 1 day to 13 years, mean age: 73 months) were included in the study: 4/14 had CT only, 5/14 had MRI only and 5/14 had CT and MRI. Sites of extracutaneous juvenile xanthogranuloma involvement included subcutaneous soft tissue (8/14), liver (2/14), lungs (2/14), kidney (2/14), nose (2/14), pancreas (1/14), central nervous system (1/14) and greater omentum (1/14), mainly manifested as single or multiple nodules or masses in different organs. On CT, the lesions mainly manifested as an iso-hypo density mass with mild or marked enhancement. On MRI, the lesions mainly manifested as slightly hyperintense on T1 and slightly hypointense on T2, with decreased diffusivity and homogeneous enhancement. Juvenile xanthogranuloma was not included in the imaging differential diagnosis in any case. CONCLUSION: Juvenile xanthogranuloma mainly manifests as single or multiple nodules or masses in different organs. Slight hyperintensity on T1 and slight hypointensity on T2 with decreased diffusivity and homogeneous enhancement are relatively characteristic imaging findings of juvenile xanthogranuloma. Combined with its typical skin lesions and imaging features, radiologists should include juvenile xanthogranuloma in the differential diagnosis when confronted with similar cases.

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The male patient was referred to the hospital at 44 days old due to dyspnea after birth and inability to wean off oxygen. His brother died three days after birth due to respiratory failure. The main symptoms observed were respiratory failure, dyspnea, and hypoxemia. A chest CT scan revealed characteristic reduced opacity in both lungs with a "crazy-paving" appearance. The bronchoalveolar lavage fluid (BALF) showed periodic acid-Schiff positive proteinaceous deposits. Genetic testing indicated a compound heterozygous mutation in the ABCA3 gene. The diagnosis for the infant was congenital pulmonary alveolar proteinosis (PAP). Congenital PAP is a significant cause of challenging-to-treat respiratory failure in full-term infants. Therefore, congenital PAP should be considered in infants experiencing persistently difficult-to-treat dyspnea shortly after birth. Early utilization of chest CT scans, BALF pathological examination, and genetic testing may aid in early diagnosis.

Differential diagnosis of pancreatoblastoma (PB) and solid pseudopapillary neoplasms (SPNs) in children by CT and MR imaging.

OBJECTIVES: To determine whether features on computed tomographic and/or magnetic resonance imaging can differentiate pancreatoblastoma (PB) from solid pseudopapillary neoplasms (SPNs) of the pancreas in children. METHODS: Clinical and imaging data for 20 cases of SPNs and 14 cases of PB confirmed by surgery or biopsy were retrospectively analysed. The size, border, calcification, haemorrhage, solid/cystic component proportion, intratumoural vessels, tumour capsulation, pancreatic duct dilatation, peripancreatic vessel invasion, distant metastasis status and apparent diffusion coefficient (ADC) values of the two groups were examined, and key diagnostic features were identified. Statistical analysis was performed using the chi-square test and Student's t test. Sensitivity and specificity values were calculated when a single criterion was used. RESULTS: Age ≤ 5 years, elevated serum α-fetoprotein (AFP), larger size, ill-defined border, calcification, absence of haemorrhage, intratumoural vessel, peripancreatic vessel invasion and distant metastasis differentiated PB from SPN (p < 0.05). ADC values of SPN were higher than those of PB (p = 0.001). There were no significant differences regarding tumour capsule (p = 0.435), pancreatic duct dilatation (p = 1.000) or cystic degeneration area over 50% of the tumour volume (p = 1.000) between the two groups. CONCLUSIONS: The following features are helpful for differentiating PB from SPN: age ≤ 5 years, elevated serum AFP, larger size, ill-defined border, calcification, haemorrhage absence, intratumoural vessel, peripancreatic vessel invasion, distant metastasis and lower ADC value. KEY POINTS: • CT and MRI are helpful to differentiate pancreatoblastoma (PB) from solid pseudopapillary neoplasms (SPNs) of the pancreas in children. • The following features are helpful to differentiate PB from SPN: age ≤ 5 years, elevated serum AFP, larger size, ill-defined border, calcification, absence of haemorrhage, intratumoural vessel, peripancreatic vessel invasion, distant metastasis and lower ADC value.

Differential Effect of the Ratio of Right Ventricular Volume to Left Ventricular Volume in Children with Repaired Tetralogy of Fallot.

We aimed to compare the diagnostic value of indexed right ventricular end-diastolic volume (RVEDVi) and the ratio of right ventricle volume to left ventricle volume (RV/LV ratio) in prediction of the severity of pulmonary regurgitation (PR) expressed as the PR fraction (PRF) after surgery of tetralogy of Fallot (TOF). Forty-one patients with repaired TOF were included in the study. RVEDVi, LVEDVi, RV/LV ratio, PRF and ejection fraction were measured with magnetic resonance imaging. A PRF of more than 20% was considered significant. The predictive capability of two markers (RVEDVi and RV/LV ratio) for significant PR was compared using multivariate linear regression analysis and receiver operating characteristic (ROC) analysis. Both the RV/LV ratio and RVEDVi showed a correlation with PRF (r = 0.526/0.321, p = 0.001/0.041) in the correlation analysis, but in multivariate regression analysis the only independent predictor of PRF was the RV/LV ratio (F = 14.890, p = 0.001). ROC analysis revealed that a better discrimination of significant PR (>20%) from slight types (=20%) PR can be reached with the RV/LV ratio than RVEDVi (AUC = 0.805/0.709, p = 0.01). The RV/LV ratio was better than RVEDVi at differentiating mild from moderate PR (p = 0.006 vs. p = 0.153), and proved superior over RVEDVi in predicting PR based on the PRF criterion.

Diffusion magnetic resonance monitors intramyocellular lipid droplet size in vivo.

PURPOSE: Intramyocellular lipid (IMCL) droplets are dynamic organelles whose morphology reflects their vital roles in lipid synthesis, usage, and storage in muscle energy metabolism. To develop noninvasive means to measure droplet microstructure in vivo, we investigated the molecular diffusion behavior of IMCL with diffusion magnetic resonance spectroscopy. METHODS: Using extremely large diffusion weighting, we measured the IMCL apparent diffusion coefficients (ADCs) in hindlimb muscle of rodents from normal feeding, 60-h fasting, streptozotocin-induced diabetic, and high-fat-diet-induced obese groups. RESULTS: IMCL ADCs decreased markedly with diffusion time, confirming the restricted diffusion of lipid molecules within IMCL droplets. IMCL droplet size, determined by transmission electron microscopy, was closely correlated with ADC. IMCL ADC was sensitive to metabolic alterations, decreasing in the 60-h fasting and diabetic groups while increasing in the obese group. These findings indicated that the IMCL droplet size decreased following 60-h fasting and in STZ-induced diabetes but increased in high-fat-diet-induced obesity. CONCLUSION: MR diffusion characterization of IMCL droplet size provides a unique means to examine the intracellular lipid dynamics and metabolic abnormalities in vivo.

Congenital portosystemic shunts with and without gastrointestinal bleeding - case series.

BACKGROUND: The clinical presentation of congenital portosystemic shunt is variable and gastrointestinal bleeding is an uncommon presentation. OBJECTIVE: To describe the imaging features of congenital portosystemic shunt as it presented in 11 children with (n = 6) and without gastrointestinal bleeding (n = 5). MATERIALS AND METHODS: We performed a retrospective study on a clinical and imaging dataset of 11 children diagnosed with congenital portosystemic shunt. RESULTS: A total of 11 children with congenital portosystemic shunt were included in this study, 7 with extrahepatic portosystemic shunts and 4 with intrahepatic portosystemic shunts. Six patients with gastrointestinal bleeding had an extrahepatic portosystemic shunt, and the imaging results showed that the shunts originated from the splenomesenteric junction (n = 5) or splenic vein (n = 1) and connected to the internal iliac vein. Among the five cases of congenital portosystemic shunt without gastrointestinal bleeding, one case was an extrahepatic portosystemic shunt and the other four were intrahepatic portosystemic shunts. CONCLUSION: Most congenital portosystemic shunt patients with gastrointestinal bleeding had a shunt that drained portal blood into the iliac vein via an inferior mesenteric vein. This type of shunt was uncommon, but the concomitant rate of gastrointestinal bleeding with this type of shunt was high.

Hepatic involvement of Langerhans cell histiocytosis in children--imaging findings of computed tomography, magnetic resonance imaging and magnetic resonance cholangiopancreatography.

BACKGROUND: Langerhans cell histiocytosis is a rare disease that occurs mainly in children, and hepatic involvement is generally a poor prognostic factor. OBJECTIVE: To describe CT and MRI findings of hepatic involvement of Langerhans cell histiocytosis in children, especially the abnormal bile duct manifestation on magnetic resonance cholangiopancreatography (MRCP). MATERIALS AND METHODS: Thirteen children (seven boys, six girls; mean age 28.9 months) were diagnosed with disseminated Langerhans cell histiocytosis. They underwent CT (n = 5) or MRI (n = 4), or CT and MRI examinations (n = 4) to evaluate the liver involvement. RESULTS: Periportal abnormalities presented as band-like or nodular lesions on CT and MRI in all 13 children. The hepatic parenchymal lesions were found in the peripheral regions of the liver in seven children, including multiple nodules on MRI (n = 6), and cystic-like lesions on CT and MRI (n = 3). In 11 of the 13 children the dilatations of the bile ducts were observed on CT and MRI. Eight of the 13 children underwent MR cholangiopancreatography, which demonstrated stenoses or segmental stenoses with slight dilatation of the central bile ducts, including the common hepatic duct and its first-order branches. The peripheral bile ducts in these children showed segmental dilatations and stenoses. CONCLUSION: Stenosis of the central bile ducts revealed by MR cholangiopancreatography was the most significant finding of liver involvement in Langerhans cell histiocytosis in children.

The clinical and imaging features of eosinophilic cystitis in children: a case series study.

BACKGROUND: Eosinophilic cystitis (EC) is rare in children and remains poorly understood. Our aim was to analyse the clinical and imaging features of eosinophilic cystitis in children. METHODS: A retrospective review of histologically confirmed eosinophilic cystitis between January 2008 and December 2022 was performed, including patient age, sex, symptoms, laboratory examination, radiology, treatment and outcome. RESULTS: Twelve children (two girls, 10 boys; age range: 3-12 years, mean age: 7.2 years) were included in the study. Urinary irritation symptoms (10/12), haematuria (5/12) and hypogastralgia (3/12) were the most common symptoms. Five patients had a history of allergies, six patients had elevated serum IgE, nine patients had elevated peripheral eosinophils and six patients had positive microscopic haematuria. Radiology revealed diffuse homogeneous or inhomogeneous thickening in seven patients, localised thickening in three patients, and solitary tumour-like lesions in the other two patients. Preservation of the mucosal line and bladder wall layering were observed in eleven patients, and perivesical exudation and small vessel dilatation were observed in ten patients. All four patients with delayed scans showed obvious delayed enhancement. One patient showed low signal intensity on T2-W imaging. All patients received antihistamine, antibiotic and/or corticosteroid therapy and two tumour-like patients underwent transurethral resection. Nine patients achieved complete response and three patients achieved partial response. CONCLUSION: The clinical and imaging manifestations of EC in children have relative characteristics; when urologist and radiologist confronted with similar cases, EC should be considered. The final diagnosis depends on pathological biopsy.

A cross-sectional study on the correlation of image quality, effective dose, and body composition with thyroid, chest, and abdominal computed tomography scans.

Background: The rapid increase in the use of radiodiagnostic examinations in China, especially computed tomography (CT) scans, has led to these examinations being the largest artificial source of per capita effective dose (ED). This study conducted a retrospective analysis of the correlation between image quality, ED, and body composition in 540 cases that underwent thyroid, chest, or abdominal CT scans. The aim of this analysis was to evaluate the correlation between the parameters of CT scans and body composition in common positions of CT examination (thyroid, chest, and abdomen) and ultimately inform potential measures for reducing radiation exposure. Methods: This study included 540 patients admitted to Fudan University Shanghai Cancer Center from January 2015 to December 2019 who underwent both thyroid or chest or abdominal CT scan and body composition examination. Average CT values and standard deviation (SD) values were collected for the homogeneous areas of the thyroid, chest, or abdomen, and the average CT values and SD values of adjacent subcutaneous fat tissue were measured in the same region of interest (ROI). All data were measured three times, and the average was taken to calculate the signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) for each area. The dose-length product (DLP) was recorded, and the ED was calculated with the following: formula ED = k × DLP. Dual-energy X-ray was used to determine body composition and obtain indicators such as percentage of spinal and thigh muscle. Pearson correlation coefficient was used to analyze the correlations between body composition indicators, height, weight, body mass index (BMI), and ED. Results: The correlation coefficients between the SNR of abdominal CT scan and weight, BMI, and body surface area (BSA) were -0.470 (P=0.001), -0.485 (P=0.001), and -0.437 (P=0.002), representing a moderate correlation strength with statistically significant differences. The correlation coefficients between the ED of chest CT scans and weight, BMI, spinal fat percentage, and BSA were 0.488 (P=0.001), 0.473 (P=0.002), 0.422 (P=0.001), and 0.461 (P=0.003), respectively, indicating a moderate correlation strength with statistical differences. There was a weak statistically significant correlation between the SNR, CNR, and ED of the other scans with each physical and body composition index (P=0.023). Conclusions: There were varying degrees of correlation between CT image quality and ED and physical and body composition indices, which may inform novel solutions for reducing radiation exposure.

Cortical and subcortical morphological alteration in Angelman syndrome.

BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder with serious seizures. We aim to explore the brain morphometry of patients with AS and figure out whether the seizure is associated with brain development. METHODS: Seventy-three patients and 26 healthy controls (HC) underwent high-resolution structural brain MRI. Group differences between the HC group and the AS group and also between AS patients with seizure (AS-Se) and age-matched AS patients with non-seizure (AS-NSe) were compared. The voxel-based and surface-based morphometry analyses were used in our study. Gray matter volume, cortical thickness (CTH), and local gyrification index (LGI) were assessed to analyze the cortical and subcortical structure alteration in the AS brain. RESULTS: Firstly, compared with the HC group, children with AS were found to have a significant decrease in gray matter volume in the subcortical nucleus, cortical, and cerebellum. However, the gray matter volume of AS patients in the inferior precuneus was significantly increased. Secondly, patients with AS had significantly increased LGI in the whole brain as compared with HC. Thirdly, the comparison of AS-Se and the AS-NSe groups revealed a significant decrease in caudate volume in the AS-Se group. Lastly, we further selected the caudate and the precuneus as ROIs for volumetric analysis, the AS group showed significantly increased LGI in the precuneus and reduced CTH in the right precuneus. Between the AS-Se and the AS-NSe groups, the AS-Se group exhibited significantly lower density in the caudate, while only the CTH in the left precuneus showed a significant difference. CONCLUSIONS: These results revealed cortical and subcortical morphological alterations in patients with AS, including globally the decreased brain volume in the subcortical nucleus, the increased gray matter volume of precuneus, and the whole-brain increase of LGI and reduction of CTH. The abnormal brain pattern was more serious in patients with seizures, suggesting that the occurrence of seizures may be related to abnormal brain changes.

Genetic background of idiopathic neurodevelopmental delay patients with significant brain deviation volume.

BACKGROUND: Significant brain volume deviation is an essential phenotype in children with neurodevelopmental delay (NDD), but its genetic basis has not been fully characterized. This study attempted to analyze the genetic factors associated with significant whole-brain deviation volume (WBDV). METHODS: We established a reference curve based on 4222 subjects ranging in age from the first postnatal day to 18 years. We recruited only NDD patients without acquired etiologies or positive genetic results. Cranial magnetic resonance imaging (MRI) and clinical exome sequencing (2742 genes) data were acquired. A genetic burden test was performed, and the results were compared between patients with and without significant WBDV. Literature review analyses and BrainSpan analysis based on the human brain developmental transcriptome were performed to detect the potential role of genetic risk factors in human brain development. RESULTS: We recruited a total of 253 NDD patients. Among them, 26 had significantly decreased WBDV (<-2 standard deviations [SDs]), and 14 had significantly increased WBDV (>+2 SDs). NDD patients with significant WBDV had higher rates of motor development delay (49.8% [106/213] vs . 75.0% [30/40], P  = 0.003) than patients without significant WBDV. Genetic burden analyses found 30 genes with an increased allele frequency of rare variants in patients with significant WBDV. Analyses of the literature further demonstrated that these genes were not randomly identified: burden genes were more related to the brain development than background genes ( P  = 1.656e -9 ). In seven human brain regions related to motor development, we observed burden genes had higher expression before 37-week gestational age than postnatal stages. Functional analyses found that burden genes were enriched in embryonic brain development, with positive regulation of synaptic growth at the neuromuscular junction, positive regulation of deoxyribonucleic acid templated transcription, and response to hormone, and these genes were shown to be expressed in neural progenitors. Based on single cell sequencing analyses, we found TUBB2B gene had elevated expression levels in neural progenitor cells, interneuron, and excitatory neuron and SOX15 had high expression in interneuron and excitatory neuron. CONCLUSION: Idiopathic NDD patients with significant brain volume changes detected by MRI had an increased prevalence of motor development delay, which could be explained by the genetic differences characterized herein.

Measurement of liver T1 and T2 relaxation times in an experimental mouse model of liver fibrosis.

PURPOSE: To characterize changes in relaxation times of liver using quantitative magnetic resonance imaging (MRI) in an experimental mouse model of liver fibrosis. Quantitative MRI is a potentially robust method to characterize liver fibrosis. However, correlation between relaxation times and fibrosis stage has been controversial. MATERIALS AND METHODS: Liver fibrosis was induced in male adult C57BL/6N mice (22-25 g; n = 12) by repetitive dosing of carbon tetrachloride (CCl(4) ). The animals were examined with a series of spin-echo (SE) images with varying TRs and multiecho SE imaging sequence at 7 T before and 2, 4, 6, and 8 weeks after CCl(4) insult. Hepatic T(1) and T(2) values were measured. Histology was performed with hematoxylin-eosin staining and Masson's trichrome staining. RESULTS: Significant increase (P < 0.001) in hepatic T(1) was found at 2, 4, 6, and 8 weeks following CCl(4) insult as compared with that before insult. Meanwhile, hepatic T(2) at 2, 4, 6, and 8 weeks after CCl(4) insult was significantly higher (P < 0.001) than that before the insult. Liver histology showed collagen deposition, edema, and infiltration of inflammatory cells in livers with CCl(4) insult. CONCLUSION: Both longitudinal and transverse relaxation times may serve as robust markers for liver fibrosis. With the advent of single breath-hold sequences for MR relaxometry, quantitative mapping of relaxation times can be routinely and reliably performed in abdominal organs and hence may be valuable and robust in detecting liver fibrosis at early phase and monitoring its progression.

Liver fibrosis: an intravoxel incoherent motion (IVIM) study.

PURPOSE: To characterize longitudinal changes in molecular water diffusion, blood microcirculation, and their contributions to the apparent diffusion changes using intravoxel incoherent motion (IVIM) analysis in an experimental mouse model of liver fibrosis. MATERIALS AND METHODS: Liver fibrosis was induced in male adult C57BL/6N mice (22-25 g; n = 12) by repetitive dosing of carbon tetrachloride (CCl(4) ). The respiratory-gated diffusion-weighted (DW) images were acquired using single-shot spin-echo EPI (SE-EPI) with 8 b-values and single diffusion gradient direction. True diffusion coefficient (D(true) ), blood pseudodiffusion coefficient (D(pseudo) ), and perfusion fraction (P(fraction) ) were measured. Diffusion tensor imaging (DTI) was also performed for comparison. Histology was performed with hematoxylin-eosin and Masson's trichrome staining. RESULTS: A significant decrease in D(true) was found at 2 weeks and 4 weeks following CCl(4) insult, as compared with that before insult. Similarly, D(pseudo) values before injury was significantly higher than those at 2 weeks and 4 weeks after CCl(4) insult. Meanwhile, P(fraction) values showed no significant differences over different timepoints. For DTI, significant decrease in ADC was observed following CCl(4) administration. Fractional anisotropy at 2 weeks after CCl(4) insult was significantly lower than that before insult, and subsequently normalized at 4 weeks after the insult. Liver histology showed collagen deposition, the presence of intracellular fat vacuoles, and cell necrosis/apoptosis in livers with CCl(4) insult. CONCLUSION: Both molecular water diffusion and blood microcirculation contribute to the alteration in apparent diffusion changes in liver fibrosis. Reduction in D(true) and D(pseudo) values resulted from diffusion and perfusion changes, respectively, during the progression of liver fibrosis. IVIM analysis may serve as valuable and robust tool in detecting and characterizing liver fibrosis at early stages, monitoring its progression in a noninvasive manner.

Prediction of Hearing Prognosis of Large Vestibular Aqueduct Syndrome Based on the PyTorch Deep Learning Model.

In order to compare magnetic resonance imaging (MRI) findings of patients with large vestibular aqueduct syndrome (LVAS) in the stable hearing loss (HL) group and the fluctuating HL group, this paper provides reference for clinicians' early intervention. From January 2001 to January 2016, patients with hearing impairment diagnosed as LVAS in infancy in the Department of Otorhinolaryngology, Head and Neck Surgery, Children's Hospital of Fudan University were collected and divided into the stable HL group (n = 29) and the fluctuating HL group (n = 30). MRI images at initial diagnosis were collected, and various deep learning neural network training models were established based on PyTorch to classify and predict the two series. Vgg16_bn, vgg19_bn, and ResNet18, convolutional neural networks (CNNs) with fewer layers, had favorable effects for model building, with accs of 0.9, 0.8, and 0.85, respectively. ResNet50, a CNN with multiple layers and an acc of 0.54, had relatively poor effects. The GoogLeNet-trained model performed best, with an acc of 0.98. We conclude that deep learning-based radiomics can assist doctors in accurately predicting LVAS patients to classify them into either fluctuating or stable HL types and adopt differentiated treatment methods.

An in-depth discussion of cholesteatoma, middle ear Inflammation, and langerhans cell histiocytosis of the temporal bone, based on diagnostic results.

Objective: This study aimed to conduct an in-depth investigation of the learning framework used for deriving diagnostic results of temporal bone diseases, including cholesteatoma and Langerhans cell histiocytosis (LCH). In addition, middle ear inflammation (MEI) was diagnosed by CT scanning of the temporal bone in pediatric patients. Design: A total of 119 patients were included in this retrospective study; among them, 40 patients had MEI, 38 patients had histology-proven cholesteatoma, and 41 patients had histology-proven LCH of the temporal bone. Each of the 119 patients was matched with one-third of the disease labels. The study included otologists and radiologists, and the reference criteria were histopathology results (70% of cases for training and 30% of cases for validation). A multilayer perceptron artificial neural network (VGG16_BN) was employed and classified, based on radiometrics. This framework structure was compared and analyzed by clinical experts according to CT images and performance. Results: The deep learning framework results vs. a physician's diagnosis, respectively, in multiclassification tasks, were as follows. Receiver operating characteristic (ROC) (cholesteatoma): (0.98 vs. 0.91), LCH (0.99 vs. 0.98), and MEI (0.99 vs. 0.85). Accuracy (cholesteatoma): (0.99 vs. 0.89), LCH (0.99 vs. 0.97), and MEI (0.99 vs. 0.89). Sensitivity (cholesteatoma): (0.96 vs. 0.97), LCH (0.99 vs. 0.98), and MEI (1 vs. 0.69). Specificity (cholesteatoma): (1 vs. 0.89), LCH (0.99 vs. 0.97), and MEI (0.99 vs. 0.89). Conclusion: This article presents a research and learning framework for the diagnosis of cholesteatoma, MEI, and temporal bone LCH in children, based on CT scans. The research framework performed better than the clinical experts.

Brain structural alterations in young girls with Rett syndrome: A voxel-based morphometry and tract-based spatial statistics study.

Rett syndrome (RTT) is a neurodevelopmental disorder caused by loss-of-function variants in the MECP2 gene, currently with no cure. Neuroimaging is an important tool for obtaining non-invasive structural and functional information about the in vivo brain. Multiple approaches to magnetic resonance imaging (MRI) scans have been utilized effectively in RTT patients to understand the possible pathological basis. This study combined developmental evaluations with clinical severity, T1-weighted imaging, and diffusion tensor imaging, aiming to explore the structural alterations in cohorts of young girls with RTT, idiopathic autism spectrum disorder (ASD), or typical development. Voxel-based morphometry (VBM) was used to determine the voxel-wised volumetric characteristics of gray matter, while tract-based spatial statistics (SPSS) was used to obtain voxel-wised properties of white matter. Finally, a correlation analysis between the brain structural alterations and the clinical evaluations was performed. In the RTT group, VBM revealed decreased gray matter volume in the insula, frontal cortex, calcarine, and limbic/paralimbic regions; TBSS demonstrated decreased fractional anisotropy (FA) and increased mean diffusivity (MD) mainly in the corpus callosum and other projection and association fibers such as superior longitudinal fasciculus and corona radiata. The social impairment quotient and clinical severity were associated with these morphometric alterations. This monogenic study with an early stage of RTT may provide some valuable guidance for understanding the disease pathogenesis. At the same time, the pediatric-adjusted analytic pipelines for VBM and TBSS were introduced for significant improvement over classical approaches for MRI scans in children.

Risk Factors for Hydrocephalus in Neonatal Purulent Meningitis: A Single-Center Retrospective Analysis.

OBJECTIVE: Hydrocephalus is a potentially lethal complication of neonatal purulent meningitis. Early detection of hydrocephalus helps to determine optimal treatment, improve prognosis, and reduce financial burden. We aimed to analyze the risk factors for hydrocephalus in neonates with purulent meningitis and discuss the characteristics of the disease. METHODS: The records of neonatal purulent meningitis admitted to the Children Hospital of Fudan University from January 2013 to September 2019 were retrospectively included in the study cohort. The data of clinical, laboratory, and cranial magnetic resonance images (MRIs) were collected and analyzed (except discharge data) by univariate analysis, and P values <.05 were further analyzed by multivariate logistic regression. RESULTS: A total of 197 children who met the inclusion criteria were enrolled in the study cohort. Overall, 39.6% (78/197) of the patients had positive pathogen cultures, and 60.4% (119/197) of patients had clinical diagnosis of meningitis with negative pathogen cultures. Among 197 children, 67 of them experienced hydrocephalus, and the factors that were significantly associated with hydrocephalus in multivariate analysis were female sex, cerebrospinal fluid glucose <2 mmol/L, periventricular leukomalacia, punctate white matter lesions, and pyogenic intraventricular empyema. Children with hydrocephalus had a lower cure rate of meningitis (31.3% vs 75.4%), and poor discharge outcomes. In addition, they had longer length of hospital stay and higher hospital cost. CONCLUSIONS: Female sex, cerebrospinal fluid glucose <2 mmol/L, periventricular leukomalacia, punctate white matter lesions, and pyogenic intraventricular empyema were identified as risk factors for hydrocephalus in neonatal purulent meningitis. Children with hydrocephalus had poor discharge outcomes and increased financial burden on their families.

A retrospective clinical analysis of pediatric paragonimiasis in a Chinese children's hospital from 2011 to 2019.

Diagnosis of pediatric paragonimiasis is difficult because of its non-specific clinical manifestations. We retrospectively reviewed the records of pediatric paragonimiasis in Children's Hospital of Fudan University from January 2011 to May 2019. The confirmed diagnosis of paragonimiasis was based on positive anti-parasite serological tests from the local Center for Disease Control (CDC). A total of 11 patients (mean age: 7.7 ± 3.1, male-female ratio: 7:4) diagnosed as paragonimiasis were included. 81.8% were from endemic areas such as Sichuan and Yunnan, and 36% had a clear history of raw crab or crayfish consumption. The characteristic clinical features of pediatric paragonimiasis were eosinophilia (100%), pleural effusion (81.8%), hepatomegaly (54.5%), ascites (54.5%), and subcutaneous nodules (45.5%). Misdiagnosed with other diseases including tuberculosis (18.2%), pneumonia (9.1%), intracranial space-occupying lesions (9.1%) and brain abcess (9.1%) led to rehospitalization and prolonged hospitalization. For treatment, a 3-day course of 150 mg/kg praziquantel (PZQ) didn't show ideal treatment effectivity and 63.6% needed more than one course of PZQ, while triclabendazole in a total dose of 10 mg/kg had a better efficacy to stubborn manifestations. This study indicated that pediatric paragonimiasis was often misdiagnosed, and the treatment with a 3-day course of 150 mg/kg PZQ had a high rate of failure.