Accuracy of Magnetic Resonance Imaging in Prenatal Diagnosis of Choledochal Cysts: A Single-Center Retrospective Analysis.

Background: The purpose of this study is to evaluate the accuracy of prenatal MRI in diagnosing choledochal cysts (CDC), evaluate the sensitivity and specificity of MRI signs in the diagnosis of fetal CDC, and first compare the trend of size of CC between prenatal and postpartum. Methods: A total of 18 fetal who were diagnosed with CDCs through prenatal MRI were enrolled in the study. We summarized and analyzed the prenatal clinical data and prognosis information of prenatal and postpartum surgery, then compared the sensitivity, specificity, and diagnostic accuracy of various signs of MRI and postpartum MRCP diagnosis of CC. Finally, we tried to compare the earliest prenatal detection of common bile duct cysts with the size of surgery, and calculated the growth rate of common bile duct cysts for the first time. Results: All 18 patients were delivered in our institution. Among these patients, 14 were confirmed with CDCs after postpartum surgery, two patients had CDCs that disappeared, and two patients were confirmed with cystic biliary atresia (CBA) through the Kasai operation. Furthermore, 13 patients with CDCs and two patients with CBA underwent MRCP before the operation, and one patient with CDCs ruptured at birth and underwent ultrasound diagnosis. The sensitivity and diagnostic compliance of prenatal MRI signs for the location were higher when compared to postnatal MRCP (100% vs. 76.9% and 83.3% vs. 66.7%): the cyst was located at the porta hepatis, which was higher than the lowest edge of the liver, and parallel to the hepatoduodenal ligament. Conclusion: Prenatal MRI is higher than that of US for diagnosing CDCs, specifically in identifying the location of the cyst and confirming the origin of the cyst. The length, width, and size of the CDC become slightly bigger in our study.

The EIF2AK4/rs4594236 AG/GG Genotype Is a Hazard Factor of Immunoglobulin Therapy Resistance in Southern Chinese Kawasaki Disease Patients.

Background: Kawasaki disease (KD) is an acute, self-limited vasculitis disorder of unknown etiology in children. Immunologic abnormalities were detected during the acute phase of KD, which reflected that the effect cells of the activated immune system markedly increased cytokine production. High-dose intravenous immunoglobulin (IVIG) therapy is effective in resolving inflammation from KD and reducing occurrence of coronary artery abnormalities. However, 10%-20% of KD patients have no response to IVIG therapy, who were defined as IVIG resistance. Furthermore, these patients have persistent inflammation and increased risk of developing coronary artery aneurysm (CAA). EIF2AK4 is a stress sensor gene and can be activated by pathogen infection. In addition, the polymorphisms of EIF2AK4 were associated with various blood vessel disorders. However, it remains unclear whether the EIF2AK4 gene polymorphisms were related to IVIG therapy outcome in KD patients. Methods: EIF2AK4/rs4594236 polymorphism was genotyped in 795 IVIG response KD patients and 234 IVIG resistant KD patients through TaqMan, a real-time polymerase chain reaction. The odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the strength of association between EIF2AK4/rs4594236 polymorphism and IVIG therapeutic effects. Results: Our results showed that the EIF2AK4/rs4594236 AG/GG genotype was significantly associated with increased risk to IVIG resistance compared to the AA genotype (AG vs. AA: adjusted ORs = 1.71, 95% CIs = 1.17-2.51, and p = 0.0061; GG vs. AA: adjusted ORs = 2.09, 95% CIs = 1.36-3.23, and p = 0.0009; AG/GG vs. AA: adjusted ORs = 1.82, 95% CIs = 1.27-2.63, and p = 0.0013; and GG vs. AA/AG: adjusted ORs = 1.45, 95% CI = 1.04-2.02, and p = 0.0306). Furthermore, the stratified analysis of age and gender in the KD cohort indicated that male patients carrying the rs4594236 AG/GG genotype tends to be more resistant to IVIG therapy than female patients. Conclusion: These results suggested that EIF2AK4/rs4594236 polymorphism might be associated with increased risk of IVIG resistance in southern Chinese KD patients.

Changes in Hyoid Bone Position Before and After Distraction Osteogenesis in Infants With Robin Sequence.

PURPOSE: To study the changes of hyoid position in infants with Robin sequence before and after mandibular distraction osteogenesis, and to explore the related factors. MATERIAL AND METHODS: Twenty-six infants with Robin sequence underwent bilateral mandibular distraction osteogenesis from May 2016 to April 2020. Three-dimensional computed tomography data of patients before and after surgery were analyzed with Materialise Mimics 17.0. Changes in the three-dimensional position of the hyoid bone were studied. RESULTS: The angle between the long axis of the tongue body and hard palate plane, and the angle between the long axis of the tongue body and mandibular plane were significantly decreased after surgery than before surgery. The hyoid bone-cranial base vertical distance, hyoid bone-mental point distance, and hyoid bone - epiglottis distance were significantly increased after surgery. The differences in the above-mentioned data were statistically significant ( P  < 0.05). Changes in the angle between the long axis of the tongue body and the hyoid bone - mental point line correlated with changes in the position of the hyoid bone relative to the cervical spine ( P   =  0.006). Postoperatively, the hyoid bone moved forward and the increase in the hyoid bone - mental point osseous distance interval (41.28%) was significantly greater than the increase in the hyoid bone-epiglottis distance (18.73%). Differences in the total mandibular length and the hyoid bone - cranial base vertical distance are related to the age at the operation ( P  < 0.05). The younger the age at the time of surgical intervention, the greater the difference before and after surgery for the same follow-up interval. CONCLUSIONS: The three-dimensional direction of the hyoid bone changes after the distraction osteogenesis of the mandible, and the hyoid bone moves downward and forward. Because the mandibular length and airway changed, the relative positions of the long axis of the tongue body on the sagittal plane rotated clockwise.

Brain imaging features of children with Hoyeraal-Hreidarsson syndrome.

OBJECTIVE: This study aimed to summarize the magnetic resonance imaging (MRI) and computed tomography (CT) features of the central nervous system (CNS) in children with Hoyeraal-Hreidarsson syndrome. METHODS: The imaging and clinical data of four children diagnosed with Hoyeraal-Hreidarsson syndrome by clinical and laboratory tests in the Guangzhou Women and Children's Medical Center were gathered and analyzed retrospectively. The clinical manifestations and CNS imaging features of Hoyeraal-Hreidarsson syndrome were summarized based on our results and a literature review. RESULTS: Our results showed that delayed development, skin pigmentation, nail/toenail dystrophy, thrombocytopenia, and anemia are the most observed clinical presentations of Hoyeraal-Hreidarsson syndrome. Important findings on CNS imaging showed that all patients had cerebellar hypoplasia, delayed myelination, hydrocephalus, brain atrophy, and calcification. The gene mutations in all cases were consistent with those of dyskeratosis congenita, including TINF2 mutations in three cases and DKC1 mutations in one case. CONCLUSION: Hoyeraal-Hreidarsson syndrome is a severe variant of dyskeratosis congenita. Both DKC1 and TINF2 mutations can lead to the phenotypes of Hoyeraal-Hreidarsson syndrome. In our study, CNS imaging revealed that cerebellar hypoplasia has an important diagnostic value for Hoyeraal-Hreidarsson syndrome while delayed myelination, calcification of the parenchyma, brain atrophy, and hydrocephalus are also important findings on CNS imaging. Combining imaging features with clinical and laboratory indicators can assist the diagnosis of Hoyeraal-Hreidarsson syndrome.

Computed tomography features can distinguish type 4 congenital pulmonary airway malformation from other cystic congenital pulmonary airway malformations.

PURPOSE: We aimed to identify clinical and computed tomography (CT) features that distinguish among cystic congenital pulmonary airway malformations (CPAMs) and offer new management strategies. METHODS: We retrieved data on 145 children (85 male, 60 female; median age, 14 months) with pathologically confirmed cystic CPAMs from 2008 to 2018 and retrospectively analyzed the clinical and CT characteristics. RESULTS: Of the 145 patients, 54 had type 1, 72 had type 2, and 19 had type 4 cystic CPAMs. Significantly more male patients had type 4 CPAMs. Type 2 CPAMs had a higher frequency of combined malformations and prenatal diagnosis than types 1 and 4. The median diameter of cystic CPAMs was 2.8 cm; that of type 1, 2, and 4 was 4.6, 1.5, and 8.1 cm, respectively. Regression analysis showed that a cyst of >7.9 cm in diameter was likely to be type 4, that of <2.8 cm was likely to be type 2, and that of 2.8-7.9 cm was likely to be type 1. Smaller cysts were more likely to be type 2 and larger cysts were more likely to be type 4. The incidence of pneumonia was higher in type 2 than in types 4 and 1. The frequency of mediastinal shift and pneumothorax was statistically significant, and both were more common in type 4. CONCLUSION: A cyst of >7.9 cm in diameter, mediastinal shift, and pneumothorax were the most important characteristics of type 4 CPAMs. CT features can distinguish type 4 CPAM from other cystic CPAMs.

A Novel Geometric Morphometric Analytical Method for Classifying Mandibular Morphology in Infants With Isolated Pierre Robin Sequence.

PURPOSE: There is a lack of uniformity in the diagnostic criteria and system for the morphologic classification of micrognathia in infants with isolated Pierre Robin sequence (IPRS). Therefore, the aim of this study was to create a morphologic classification system for IPRS-affected mandibles that may guide surgical management and osteotomy design. PATIENTS AND METHODS: We designed and implemented a retrospective cross-sectional study. The study sample included infants with IPRS. The predictor variables included shape variables of the IPRS-affected mandibles. The outcome of interest was morphologic differences among the IPRS-affected mandibles in the infancy stage. The original coordinate data of the mandibular images were analyzed by a generalized Procrustes analysis and 2-block partial least squares analysis to identify the focal and nonfocal areas in the IPRS-affected mandibles. The original feature points were modified according to the results of 2-block partial least squares analysis. The modified feature points were further analyzed by principal component analysis, K-means cluster analysis, and canonical variate analysis to obtain a morphologic classification of the IPRS-affected mandibles. RESULTS: One hundred fifty infants with IPRS were enrolled in this study. Principal component analysis showed that the variations among IPRS-affected mandibles were mostly in terms of the shapes of the mandibular ramus, mandibular body, and angle of the mandible. On the basis of the results of K-means cluster analysis and canonical variate analysis, the mandibles in group A3 showed characteristics such as a simply shorter mandibular body. Group B3 was adjusted to show characteristics such as a shorter mandibular body with a more obtuse mandibular angle, whereas group C3 showed characteristics such as a shorter mandibular body with a shorter mandibular ramus. CONCLUSIONS: Our study confirmed the hypothesis that there are quantifiable morphologic differences among the IPRS-affected mandibles, and it provided a morphologic classification of the IPRS-affected mandibles that will help to promote the clinical diagnosis and treatment.

A novel 3D printing PCL/GelMA scaffold containing USPIO for MRI-guided bile duct repair.

Making artificial bile ducts in vitro for repairing and replacing diseased bile ducts is an important concept in tissue engineering. This study printed a tubular composite scaffold using polycaprolactone (PCL) through the current 3D printing method. It served as a matrix for the organoid cells of the bile duct to proliferation, migration, and differentiation. The PCL scaffold full of bile duct-like organ cells can achieve the effect of bionics, replacing the original bile duct to perform its proper function. In order to enrich the performance of the tubular scaffold, hydrogels were also used in this study. Applying a layer of gelatin methacryloyl (GelMA) hydrogel with an appropriate thickness on the outer layer of the PCL scaffold not only protects and supports the scaffold, but also improves the biocompatibility of the printed bile duct. In addition, ultrasmall superparamagnetic iron oxide (USPIO) nanoparticles dispersed in GelMA served as the contrast agent to monitor the repair of the lesion site and the degradation of the bile duct in real time by magnetic resonance imaging (MRI). In this study, a tubular composite scaffold that could reconstruct bile duct function and possess a real-time MRI imaging property was constructed by 3D printing. After 13 days of the co-culture of bone marrow derived stem cells (BMSCs), the survival rate of the BMSCs was greater than 95%, and the coverage of the BMSCs was as high as 90%. At the same time, the compression modulus of the stent could reach 17.41 kPa and the Young's modulus could reach 5.03 kPa. Thus, the mechanical properties of it can meet the needs of human implantation. USPIO can achieve MRI imaging in situ and nondestructively monitor the degradation of the stent in the body. In summary, PCL/GelMA/USPIO bile duct scaffolds are beneficial to the proliferation of cells on the scaffolds and can be used to construct biologically active artificial bile ducts.

MRI reveals segmental distribution of enterovirus lesions in the central nervous system: a probable clinical evidence of retrograde axonal transport of EV-A71.

Enterovirus 71 (EV-A71) is a major causative agent for hand, foot, and mouth disease (HFMD), especially severe HFMD characterized by neurologic involvement. The objective of this study is to investigate the relationship between the distribution of neurologic infection and the outcomes of severe HFMD. A total of 139 suspected severe HFMD cases (92 were confirmed as EV-A71 infection) underwent clinical and laboratory diagnosis as well as magnetic resonance imaging (MRI) scans of the nervous system. Only those who were confirmed with EV-A71 infection were included in our study. The image data of severe EV-A71-related HFMD cases were retrospectively analyzed, and they were grouped according to lesion site location indicated by MRI. The distribution of lesions in the central nervous system shown by MRI indicated that there were 47 (51%) in brainstem, 33 (36%) in spinal nerve roots lower than T1 thoracic spine, four (5%) in brainstem plus cervical spinal cord involvement, three (3%) in cervical spinal cord, three (3%) in brainstem plus spinal nerve root lower than T1, and two (2%) in cervical and thoracic spinal cord lower than T1. Our analysis strongly substantiates the hypothesis of retrograde axonal transport (RAT) of EV-A71 pathogenesis, suggesting that the pharyngeal branch of the vagus nerve is a major route to the brainstem, and that ascending transportation via the spinal cord does not occur when spinal nerve roots are infected by EV-A71 via RAT. Graphical abstract ᅟ.

Imaging features of spinal atypical teratoid rhabdoid tumors in children.

This study aims to analyze and summarize the imaging features of spinal atypical teratoid/rhabdoid tumors (AT/RT) in children.Imaging features in 8 children with spinal AT/RT confirmed by surgical pathology were retrospectively analyzed. All patients had underwent total spine 3.0 T magnetic resonance imaging (MRI) and 64-slice spiral computed tomography (CT). Among these 8 patients, head MR non-enhanced and spinal enhanced scanning was applied to 5 patients, while CT examination was applied to 3 patients.All 8 patients were characterized by cauda equina syndrome. The lesions of 7 patients were in the thoracolumbar spinal junction, while the lesion of the remaining patient was in the lumbar spine. Furthermore, among these patients, the lesions of 5 patients were limited to the intraspinal canal (1 lesion in the epidural space, and 4 lesions in the subdural space), while the lesions of 3 patients invaded the paravertebra (2 lesions in the epidural space and 1 lesion in the subdural space). Three or more spinal segments were invaded by tumors in 7 patients, while sacral canal was affected in 5 patients. All 8 patients experienced bleeding in the tumors. Enhanced MRI revealed meningeal enhancement in 6 patients, and bilateral nerve root enhancement in 4 patients. The masses in 3 patients brought damages to the intervertebral foramen or sacral pore. The lesion of 1 patient was featured by skip growth. One patient had total spinal metastasis and 3 had hydrocephalus. The masses in 2 patients had a slightly low density when detected by CT, and enhanced scanning revealed a mild to moderate enhancement.Spinal AR/TR had the following characteristics: children were characterized by cauda equina syndrome; the mass that invaded the thoracolumbar spinal junction and the extramedullary space of multiple segments grew along the spinal longitudinal axis; bleeding mass was revealed in MRI imaging; meninges, nerve root, and sacral canal metastases occurred. The gold standard for the definite diagnosis of AT/RT is biopsy combined with immunohistochemistry.

Formation of the calcarine sulcus: a potential marker to predict the progression in utero of isolated mild fetal ventriculomegaly.

Our previous study confirmed the negative association between the development of calcarine sulcus and the width of lateral ventricles. The purpose of current study was to evaluate the reliability of calcarine sulcus depth in the 2nd trimester to predict the prenatal enlargement of lateral ventricle in fetuses with isolated mild fetal ventriculomegaly (IMVM).This study used a retrospective cohort study design. A total of 97 pregnant women with IMVM diagnosed between 20 and 26 weeks' gestation returned for a 2nd examination at 30 to 32 weeks. Lateral ventricular size and calcarine sulcus depth were acquired from ultrasonography and magnetic resonance imaging (MRI) scans, respectively. Progression was defined as the process of developing from a lower group toward a higher (<10 mm, 10-12 mm, 13-15 mm, and ≥16 mm).Significant correlation was observed between calcarine sulcus depth and ventricular measurements at the 2nd scan (r = -0.71, P < .0001). Receiver-operating characteristic curves showed that calcarine sulcus depth (area under curve [AUC] = 0.83, 95% confidence interval [CI] = 0.74-0.92) had the best diagnostic performance in predicting the prenatal progression, as compared with lateral ventricle width (AUC = 0.69, 95%CI = 0.54-0.84) and gestational age (AUC = 0.70, 95%CI = 0.57-0.83) at the initial scan. The cutoff value for calcarine sulcus depth was 3.3 mm, with the corresponding sensitivity and specificity were 75.0% and 81.3%, respectively. Multivariate analyses showed that calcarine sulcus depth ≥3.3 mm (odds ratio = 0.09, 95%CI = 0.02-0.38, P = .001) was an independent predictor of the prenatal progression.For IMVM, calcarine sulcus depth might be a powerful marker to identify subjects at higher risk for worse prenatal progression.

Neuro-Magnetic Resonance Imaging in Hand, Foot, and Mouth Disease: Finding in 412 Patients and Prognostic Features.

PURPOSE: The aims of this study were to describe the neuroimaging findings in hand, foot, and mouth disease and determine those who may provide prognosis. MATERIAL AND METHODS: Magnetic resonance imaging scans in 412 severe hand, foot, and mouth disease between 2009 and 2014 were retrospectively evaluated. The patients who had the neurological signs were followed for 6 months to 1 year. According to the good or poor prognosis, 2 groups were categorized. The incidence of lesions in different sites between the 2 groups was compared, and multivariate analysis was used to look for risk factors. RESULTS: The major sites of involvement for all patients with percentages were the medulla oblongata (16.1%), spinal anterior nerve roots (12.4%), thoracic segments (11.1%), brain or spinal meninges (8.3%), and so on. There were 347 patients (84.2%) with good prognosis and 65 (15.8%) with poor prognosis in the follow-up. There was a significantly higher rate of lesions involving the cerebral white substance, thalamus, medulla oblongata, pons, midbrain, and spinal cord in the group with poor prognosis. Multivariate analysis showed 2 independent risk factors associated with poor prognosis: lesions located in the medulla oblongata (P < 0.015) and spinal cord (P < 0.001) on magnetic resonance imaging; the latter was the most significant prognostic factor (odds ratio, 29.11; P < 0.001). CONCLUSIONS: We found that the distribution patterns for all patients mainly involved the medulla oblongata, spinal anterior nerve roots, thoracic segments, and brain or spinal meninges. Our findings suggested that patients with lesions located in the medulla oblongata and spinal cord may be closely monitored for early intervention and meticulous management. For children with the symptom of nervous system, they are strongly recommended for magnetic resonance examination.

Magnetic resonance imaging based correlation analysis between calcarine sulcus development and isolated fetal ventriculomegaly.

Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricles, to assess if calcarine sulcus can also be used for fetal ventriculomegaly diagnosis. We conducted a retrospective analysis of the magnetic resonance imaging (MRI) data from 45 subjects with isolated mild fetal ventriculomegaly (IMVM). The calcarine sulcus development was divided into three categories based on the depth; Grade 1 (undeveloped), Grade 2 (underdeveloped), and Grade 3 (fully developed), and its correlation with fetal ventriculomegaly was analyzed based on Spearman's partial rank correlation test. Based on this analysis, the width of left and right lateral ventricles showed significant downward trend with the calcarine sulcus maturation [undeveloped (Left 13.88 ± 2.70 mm, Right 14.27 ± 3.13 mm) â†’ underdeveloped (Left 12.95 ± 1.93 mm, Right 11.93 ± 2.24 mm) â†’ fully developed (Left 11.06 ± 2.10 mm, Right 10.42 ± 2.10 mm)] (FLeft  = 5.12, P = 0.01; FRight  = 10.72, P = 1.73 × 10-4 ). In addition, significant correlations were also observed between the width of the lateral ventricles and the maturity of the calcarine sulcus (Spearman's rank correlation coefficient; -0.47 for the left lateral ventricles and -0.56 for the right, both P < 0.001). Overall, our data indicated a negative correlation between the fetal morphological development of calcarine sulcus and the width of lateral ventricles in subjects having isolated fetal ventriculomegaly.