Leptomeningeal enhancement of myelin oligodendrocyte glycoprotein antibody-associated encephalitis: uncovering novel markers on contrast-enhanced fluid-attenuated inversion recovery images.

Background: Myelin oligodendrocyte glycoprotein antibody disease (MOGAD) is a newly defined autoimmune inflammatory demyelinating central nervous system (CNS) disease characterized by antibodies against MOG. Leptomeningeal enhancement (LME) on contrast-enhanced fluid-attenuated inversion recovery (CE-FLAIR) images has been reported in patients with other diseases and interpreted as a biomarker of inflammation. This study retrospectively analyzed the prevalence and distribution of LME on CE-FLAIR images in children with MOG antibody-associated encephalitis (MOG-E). The corresponding magnetic resonance imaging (MRI) features and clinical manifestations are also presented. Methods: The brain MRI images (native and CE-FLAIR) and clinical manifestations of 78 children with MOG-E between January 2018 and December 2021 were analyzed. Secondary analyses evaluated the relationship between LME, clinical manifestations, and other MRI measures. Results: Forty-four children were included, and the median age at the first onset was 70.5 months. The prodromal symptoms were fever, headache, emesis, and blurred vision, which could be progressively accompanied by convulsions, decreased level of consciousness, and dyskinesia. MOG-E showed multiple and asymmetric lesions in the brain by MRI, with varying sizes and blurred edges. These lesions were hyperintense on the T2-weighted and FLAIR images and slightly hypointense or hypointense on the T1-weighted images. The most common sites involved were juxtacortical white matter (81.8%) and cortical gray matter (59.1%). Periventricular/juxtaventricular white matter lesions (18.2%) were relatively rare. On CE-FLAIR images, 24 (54.5%) children showed LME located on the cerebral surface. LME was an early feature of MOG-E (P = 0.002), and cases without LME were more likely to involve the brainstem (P = 0.041). Conclusion: LME on CE-FLAIR images may be a novel early marker among patients with MOG-E. The inclusion of CE-FLAIR images in MRI protocols for children with suspected MOG-E at an early stage may be useful for the diagnosis of this disease.

Subpial hemorrhages in neonates: imaging features, clinical factors and outcomes.

Neonatal subpial hemorrhage is a poorly understood type of intracranial hemorrhage. Herein, we reported on 34 neonates with subpial hemorrhages, focusing on the imaging features, clinical factors, and outcomes of this type of intracranial hemorrhage. This retrospective case series enrolled 34 neonates with subpial hemorrhages. We analyzed their magnetic resonance (MR) images, clinical manifestations, and prognoses. We categorized, for the first time, the MR images of patients with subpial hemorrhages into three imaging patterns; moreover, on the basis of a yin-yang sign, we added a sandwich sign, attaining an MR image feature that was easier to understand. MR Patterns A and B both have good prognoses, and most patients had normal clinical outcomes. Subpial hemorrhage in neonates may be diagnosed via imaging patterns. Recognizing this pattern of hemorrhage may help gain a better understanding of the associated risk factors.

Cranial fasciitis in children: clinicoradiology features and management.

BACKGROUND: Cranial fasciitis (CF) is a rare benign fibroproliferative lesion of the skull. To date, the summarized radiologic characteristics and the subtype of the disease have not been reported. our purpose was to summarize the characteristic clinicoradiology features and management of CF and to improve the knowledge of radiologists and clinicians. METHODS: We searched our institution's database and retrieved the clinical and radiologic data of CF patients confirmed by histopathological examination. The clinicoradiology features and management of CF were analysed retrospectively. RESULTS: A total of 14 CF patients were included. A total of 85.7% of the patients presented with a painless, firm, nonmobile and single mass. Tenderness and multiple masses were found in 14.3% of the patients. The mass was clearly increased in 2 patients and gradually increased in 5 patients in the short term. We divided these patients into three types based on the CT characteristics. The characteristic features of type I (9 patients) presented as an expansive and osteolytic bone destruction with a soft tissue mass. Type II (2 patients) presented as a scalp mass with mild erosion of the outer skull plate. Type III (3 patients) presented as a scalp mass without skull destruction. All patients underwent surgical resection. For type I patients, craniectomy and cranioplasty were performed. For type II patients, complete excision of the scalp mass with local skull curettage was performed. For type III patients, complete excision of the scalp mass was performed. There were no cases of recurrence after follow-up. CONCLUSIONS: CF usually presents as a painless, firm, nonmobile and single mass with a clear boundary. There are generally three types of MSCT findings: bone destruction with a soft tissue mass, a scalp mass with erosion of the skull and a scalp mass. Different management strategies should be utilized for the various types of CF.

Diagnostic Value of DCE-MRI and Tofts Model in Children with Unilateral Hydronephrosis.

BACKGROUND: Hydronephrosis is a common condition, and the correct diagnosis of hydronephrosis is necessary to improve the early diagnosis rates of pediatric hydronephrosis. OBJECTIVE: The objective of this study is to explore and analyze the diagnostic value of dynamic contrast- enhanced magnetic resonance imaging (DCE-MRI) analyzed using the Tofts model in children with unilateral hydronephrosis. METHODS: We retrospectively selected data from 88 children with unilateral hydronephrosis treated in our hospital from September 2018 to October 2020. Routine and DCE-MR renal image indexes were collected and their pharmacokinetic variables were calculated based on the Tofts model to compare kinetic parameters of affected and normal kidney. We compared the renal parenchymal thickness and other renal function indexes in children with different degrees of hydronephrosis, and drew receiver operating characteristic (ROC) curves to evaluate the diagnostic value of this approach in children with hydronephrosis. RESULTS: The Ktrans, Kep, and Ve values in the diseased kidneys were lower than those in the normal ones (P<0.05). The thickness of the healthy renal parenchyma in children with severe hydronephrosis was higher than in children with moderate and mild hydronephrosis, but the renal parenchyma thickness and the thickness ratio of renal parenchyma on the affected side were lower than those in children with moderate and mild hydronephrosis (P<0.05). Sensitivity, specificity and accuracy of DCE-MRI and Tofts model in the diagnosis of hydronephrosis in children were higher than those of a single DCE-MRI (P<0.05). The area under the ROC curve for the DCE-MRI and Tofts model approach for the diagnosis of hydronephrosis in children was 0.789 (95% CI, 0.72-0.859), and the sensitivity and specificity were 86.36% and 71.59%, respectively. CONCLUSION: DCE-MRI and Tofts model can provide a clear picture of renal morphology, and renal function evaluation parameters. They have high sensitivity and specificity in the diagnosis of hydronephrosis in children.

Imaging Findings in Neonates With Congenital Pyriform Sinus Fistula: A Retrospective Study of 45 Cases.

Background: Congenital pyriform sinus fistula (CPSF) is a rare branchial cleft deformity. The characteristics and management of CPSF in neonates are different from those in children or adults, and a comprehensive understanding of the imaging features of neonatal CPSF can facilitate its preoperative diagnosis. Thus, the aim of this study was to summarize the ultrasonography (US) and CT imaging findings of CPSF in neonates. Methods: Forty-five full-term neonates with CPSF, confirmed by pathology after surgical resection from January 2012 to October 2020, were included in this retrospective study. All patients underwent preoperative cervical US and contrast-enhanced CT examinations, and the imaging findings were analyzed. Results: Forty-six cervical cystic masses were found in 45 neonates, including one case with bilateral lesions, three cases with lesions on the right side, and 41 cases on the left side. Both US and CT detected neck abnormality among all cases, while the diagnostic accuracy of US (15/46, 32.6%) was lower than that of CT (42/46, 91.3%). Moreover, CT showed significantly higher detection rates of intralesional air bubbles, involvement of the ipsilateral thyroid, deviation of the airway, and expansion into the mediastinal and retropharyngeal space compared with the US. As the age increased, it was more likely to present some features including the absence of air-containing, thick cyst wall, and poorly defined border (ρ <0.05). Conclusion: CPSF in the neonates showed distinctive imaging findings on contrast-enhanced CT scan, which provides important supplementary information for the diagnosis of CPSF after the initial US examination.

A three-dimensional printed model in preoperative consent for ventricular septal defect repair.

BACKGROUND: The 3D printing technology in congenital cardiac surgery has been widely utilized to improve patients' understanding of their disease. However, there has been no randomized controlled study on its usefulness in surgical consent for congenital heart disease repair. METHODS: A randomized controlled study was performed during consent process in which guardians of candidates for ventricular septal defect repair were given detailed explanation of the anatomy, indication for surgery and potential complication and risks using 3D print ventricular septal defect model (n = 20) versus a conventional 2D diagram (n = 20). A questionnaire was finished by each guardian of the patients. Data collected from questionnaires as well as medical records were statistically analyzed. RESULTS: Statistically significant improvements in ratings of understanding of ventricular septal defect anatomy (p = 0.02), and of the surgical procedure and potential complications (p = 0.02) were noted in the group that used the 3D model, though there was no difference in overall ratings of the consent process (p = 0.09). There was no difference in questionnaire score between subjects with different education levels. The clinical outcomes, as represented by the duration of intensive care unit stay, intubation duration was comparable between the two groups. CONCLUSIONS: The results indicated that it was an effective tool which may be used to consent for congenital heart surgery. Different education levels do not affect guardians' understanding in consent. The impact of 3D printing used in this scenario on long term outcomes remains to be defined.

Further phenotypic features and two novel POC1A variants in a patient with SOFT syndrome: A case report.

Short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome is a rare autosomal recessive disease caused by POC1 centriolar protein A (POC1A) pathogenic variants. However, knowledge of genotypic and phenotypic features of SOFT syndrome remain limited as few families have been examined; therefore, the clinical identification of SOFT syndrome remains a challenge. The aim of the present case report was to investigate the genetic cause of this syndrome in a patient with a short stature, unusual facial appearance, skeletal dysplasia and sparse body hair. Giemsa banding and exome sequencing were performed to investigate the genetic background of the family. Spiral computed tomography and magnetic resonance imaging were used for investigating further phenotypic features of the patient. Exome sequencing identified that POC1A had two compound heterozygous variants, namely c.850_851insG and c.593_605delGTGGGACGTGCAT, which, to the best of our knowledge, have not been reported elsewhere. Novel phenotypes were also identified as follows: i) Metaphyseal dysplasia was alleviated (and/or even disappeared) with age; ii) the density of the femoral neck was uneven and the hyperintensity signal of the metaphysis was stripe­like. Thus, the present case report expands the knowledge regarding phenotypic and genotypic features of SOFT syndrome.

A novel three-dimensional printed vacuum bell for pectus excavatum treatment: a preliminary study.

OBJECTIVE: Conservative treatment with a vacuum bell (VB) for pectus excavatum (PE) has now been gradually popularized as an alternative to surgery. We describe our initial experience with a novel three dimensional (3D) printed VB device. METHODS: Prospectively collected data of all patients who started using a 3D printed VB in 2018 at our institution were analyzed. Linear and logistic regressions were used to identify factors associated with effectiveness of device usage. RESULTS: In total, forty-two patients with a median age of 3.6 years were treated with the device. The median follow-up duration was 11.1 months and the mean initial Depth Ratio (DR) was 0.129. There were no permanent sequelae from side effects. Thirty patients with at least one follow-up body scan data showed varying improvement (z = - 4.569, p = 0.0000). Linear regression suggested that longer usage improved outcomes (R2 = 0.235, p = 0.014). By logistic regression there was a trend of younger ages and less initial DR for better improvement though neither was statistically significant (p = 0.086, 0.078, respectively). CONCLUSION: Our initial experience has shown the 3D printed VB may be as effective as other conventional VBs and could be used as an alternative to surgical treatment for selected patients with PE. More experience and studies with this type of VB are needed to demonstrate its superiority with regard to the 3D printing design and optimal timing and indication for use.

Imaging features of neonatal systemic juvenile xanthogranuloma: a case report and review of the literature.

Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytic disorder in children. This report describes the case of a 28-day-old boy that presented with multiple subcutaneous nodular lesions on the trunk and extremities, and multiple red nodular lesions on the scrotum. Magnetic resonance imaging (MRI) of the brain showed a well-demarcated extra-axial dura-based mass that appeared isointense or slightly hyperintense on T1-weighted images, hypointense on T2-weighted images and had intense enhancement on gadolinium-enhanced T1-weighted images. Computed tomography (CT) or MRI scans of the chest and abdomen revealed multiple scattered nodular or patchy lesions of varying sizes in the lungs, liver and left kidney. Histological analysis of a subcutaneous mass suggested JXG. The patient was diagnosed with neonatal systemic JXG with involvement of the central nervous system, lungs, liver, kidneys, subcutaneous soft tissue and skin. CT and MRI after 3 months of treatment with methylprednisolone sodium succinate demonstrated that the lesions were obviously diminished. This report discusses the imaging findings in this current case of multi-organ JXG and reviews the imaging literature on this condition to improve awareness of the lesions in order to help radiologists establish an accurate differential diagnosis when confronted with similar cases.

Three-dimensional printing models in congenital heart disease education for medical students: a controlled comparative study.

BACKGROUND: This study sought to assess, using subjective (self-assessment) and objective (MCQ) methods, the efficacy of using heart models with ventricular septal defect lesions produced with three-dimensional printing technology in a congenital heart disease curriculum for medical students. METHODS: Three computed tomography datasets of three subtypes of ventricular septal defects (perimembranous, subarterial and muscular, one for each) were obtained and processed for building into and printing out 3D models. Then a total of 63 medical students in one class were randomly allocated to two groups (32 students in the experimental, and 31 the control). The two groups participated in a seminar with or without a 3D heart model, respectively. Assessment of this curriculum was carried out using Likert-type questionnaires as well as an objective multiple choice question test assessing both knowledge acquisition, and structural conceptualization. Open-ended questions were also provided for getting advice and suggestion on 3D model utilization in CHD education. RESULTS: With these 3D models, feedback shown in the questionnaires from students in experimental group was significantly more positive than their classmates in the control. And the test results also showed a significant difference in structural conceptualization in favor of the experimental group. CONCLUSION: It is effective to use heart models created using current 3D printing technology for congenital heart disease education. It stimulates students' interest in congenital heart disease and improves the outcomes of medical education.

Long-term outcomes using adjuvant pelvic intensity modulated radiation therapy (IMRT) for endometrial carcinoma.

PURPOSE: We evaluated the long-term outcome and toxicity of adjuvant intensity modulated radiation therapy (IMRT) for high-risk endometrial carcinoma via a retrospective institutional review of patients treated in this setting with extended follow-up. METHODS AND MATERIALS: Patients with endometrial cancer who underwent comprehensive surgical staging followed by adjuvant IMRT with or without sequential chemotherapy between 1999 and 2010 were reviewed. Median doses delivered with IMRT and brachytherapy were 45 Gy in 25 fractions and 10 Gy in 2 fractions; 10.2% received extended field and 94.5% received vaginal brachytherapy. Kaplan-Meier estimates are provided for rates of locoregional (in-field) relapse, distant metastasis, and disease-free survival, and overall survival. Gastrointestinal (GI) and genitourinary (GU) toxicity reported were graded with the Common Terminology Criteria for Adverse Events, version 4.03. RESULTS: A total of 128 patients were identified. Median age at diagnosis was 64 years. Most patients (82.8%) had endometrioid adenocarcinoma followed by papillary serous (10.2%), clear cell (4.7%), and carcinosarcoma (2.3%). International Federation of Gynecology and Obstetrics staging distribution was as follows: IA, 13.3%; IB, 32.8%; II, 30.4%; IIIA, 5.5%; IIIC1, 9.4%; and IIIC2, 8.6%. Most (85.9%) underwent nodal dissections (28.1% pelvic only and 57.8% pelvic and para-aortic). Two patients (1.6%) experienced acute grade 3 GI toxicity; no other acute grade ≥3 GI/GU toxicities were noted. With a median follow-up of 57.0 months, 5-year locoregional relapse was 2.5%: vagina (n = 3), parametrium (n = 1), pelvic node (n = 1). Five-year estimates of distant metastasis, disease-free survival, and overall survival were 16.5%, 73.4%, and 77.4%, respectively. Five-year actuarial rates of late grade 3 GI and GU toxicities were 3.2% and 0.0%. The 5-year rate of symptomatic pelvic insufficiency fracture was 4.4%. CONCLUSIONS: This study represents the largest cohort of endometrial cancer patients with extended follow-up receiving adjuvant IMRT. High rates of pelvic disease control and limited late toxicities demonstrate safety and efficacy of this approach in the setting of extended follow-up.

Birinapant (TL32711) Improves Responses to GEM/AZD7762 Combination Therapy in Triple-negative Breast Cancer Cell Lines.

BACKGROUND: Triple-negative breast cancer (TNBC) is an aggressive form of breast cancer currently lacking targeted therapies. Our previous work demonstrated a therapeutic synergism with gemcitabine (GEM) and the CHK1 inhibitor (AZD7762) combination treatment in a TNBC cell line. We hypothesized that the response to this combination therapy would differ among heterogeneous TNBC patients and that addition of a SMAC mimetic (TL32711) could improve efficacy. MATERIALS AND METHODS: Therapeutic responses to GEM, GEM/AZD7762, and GEM/AZD7762/TL32711 combinations were investigated by XTT assays and western blotting of cell cycle and apoptosis-related proteins in ten TNBC cell lines. RESULTS: TNBC cell lines harboring low levels of endogenous CHK1, cIAP1 and cIAP2 were responsive to GEM alone, whereas cell lines demonstrating a minimal increase in phospho-S345 CHK1 after treatment were responsive to GEM/AZD7762 or GEM/AZD7762/TL32711 combination. CONCLUSION: The response of TNBC cells to particular therapies varies and will require development of predictive biomarkers.

Development and Preclinical Application of an Immunocompetent Transplant Model of Basal Breast Cancer with Lung, Liver and Brain Metastases.

Triple negative breast cancer (TNBC) is an aggressive subtype of breast cancer that is associated with a poor prognosis and for which no targeted therapies currently exist. In order to improve preclinical testing for TNBC that relies primarily on using human xenografts in immunodeficient mice, we have developed a novel immunocompetent syngeneic murine tumor transplant model for basal-like triple-negative breast cancer. The C3(1)/SV40-T/t-antigen (C3(1)/Tag) mouse mammary tumor model in the FVB/N background shares important similarities with human basal-like TNBC. However, these tumors or derived cell lines are rejected when transplanted into wt FVB/N mice, likely due to the expression of SV40 T-antigen. We have developed a sub-line of mice (designated REAR mice) that carry only one copy of the C3(1)/Tag-antigen transgene resulting from a spontaneous transgene rearrangement in the original founder line. Unlike the original C3(1)/Tag mice, REAR mice do not develop mammary tumors or other phenotypes observed in the original C3(1)/Tag transgenic mice. REAR mice are more immunologically tolerant to SV40 T-antigen driven tumors and cell lines in an FVB/N background (including prostate tumors from TRAMP mice), but are otherwise immunologically intact. This transplant model system offers the ability to synchronously implant the C3(1)/Tag tumor-derived M6 cell line or individual C3(1)/Tag tumors from various stages of tumor development into the mammary fat pads or tail veins of REAR mice. C3(1)/Tag tumors or M6 cells implanted into the mammary fat pads spontaneously metastasize at a high frequency to the lung and liver. M6 cells injected by tail vein can form brain metastases. We demonstrate that irradiated M6 tumor cells or the same cells expressing GM-CSF can act as a vaccine to retard tumor growth of implanted tumor cells in the REAR model. Preclinical studies performed in animals with an intact immune system should more authentically replicate treatment responses in human patients.