Cranial ultrasound performance assessment tool: development and validation.

AIM: A standard assessment tool for direct evaluation of procedural skills to ensure proficiency of trainees is necessary for cranial ultrasound (US) in clinical practice. This study created and validated an assessment tool for cranial US performance by radiologists. MATERIAL AND METHODS: An initial evaluation tool for cranial US using criteria was developed based on existing literature. The assessment form was modified using a three-round Delphi process by an expert panel, conducted between January 2021 and April 2021. Rubric scales for grading were added once consensus regarding generated items was reached. Experts confirmed the final assessment tool using a rubric scale. Two raters evaluated cranial US performance of 27 residents in video clips using the tool. Reliability and percent agreement were assessed. RESULTS: Seventeen pediatric radiologists working in different settings participated in the expert panel. The content validation of the proposed evaluation tool was enabled by expert pediatric radiologists. Following three rounds of the Delphi process, the initial 14-item assessment form became a final 15-item form. A three-part rubric scale was used in the final form (preparation, US machine operation, and cranial US performance). Interrater reliability was evaluated with Cohen's Kappa. The Kappa value and percent interrater agreement for most items was moderate to almost perfect (0.42-0.93 and 77.8-100%, respectively). The Cronbach's alpha values for both raters were 0.856 and 0.891. CONCLUSIONS: This study produced the first validated cranial US assessment tool using a modified Delphi method. The final assessment form is a simple and reliable tool.

Etiology and outcome of acute recurrent pancreatitis and chronic pancreatitis.

BACKGROUND: Owing to the lack of data, we aimed to determine the etiology and outcome of acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP) in children in Southeast Asia. METHODS: This retrospective study was conducted at a university hospital in Bangkok, Thailand. We included patients aged <18 years who were diagnosed with pancreatitis from 2000 to 2021. RESULTS: Among 155 patients with pancreatitis, 21 (13.5%) were diagnosed with either ARP (n = 7) or CP (n = 14). Clinical manifestations of CP included chronic abdominal pain (n = 10, 71.4%), steatorrhea (n = 8, 57.1%), and diabetes mellitus (n = 1, 7.1%). Positive radiological findings compatible with CP were detected from an abdominal ultrasound, computed tomography, magnetic resonance cholangiopancreatography in 70%, 90.9%, and 92.9% of patients, respectively. Genetic, metabolic, and pancreaticobiliary causes were the major causes of ARP/CP (23.8% each) and the etiologies were unidentified in one-fifth of the patients. Patients with metabolic diseases who had AP were at-risk of developing ARP (hazards ratio [HR], 4.7, 95% confidence interval [CI]: 1.5-13.9). Children with ARP or CP were younger than those with AP (P = 0.04). Approximately two-thirds of patients with CP had growth faltering and they had more episodes of hospitalization due to acute attacks when compared to patients with ARP ( 4 [interquartile range [IQR], 3-6] vs. 3 [IQR, 2-3]; P = 0.02). CONCLUSION: Genetic, metabolic, and pancreaticobiliary diseases were the common etiologies of ARP and CP among children living in a developing country in Southeast Asia. The burden of CP included malnutrition and frequent hospitalization. The findings emphasize the importance of an early etiological diagnosis and monitoring for pancreatic insufficiency in ARP/CP.

Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1.

Epidermolysis bullosa (EB) is a rare and genetically heterogeneous disorder characterized by skin fragility and blister formation occurring spontaneously or after minor trauma. EB is accompanied by congenital absence of skin (EB with CAS) in some patients. Pathogenic variants of COL7A1 are responsible for EB with CAS in the vast majority of cases. Type and subtype diagnosis of EB with CAS generally requires specific immunohistological examinations that are not widely available plus targeted gene analysis. The present study aimed to determine the clinical features of five patients affected by EB with CAS and to identify the underlying genetic defects using whole exome sequencing (WES) followed by focused analysis of the target genes. Four patients had generalized skin involvement and one had localized defects. Two patients exhibited extremely severe skin manifestations and congenital cloudy cornea along with pyloric atresia, and one had partial esophagogastric obstruction and anuria due to vesicoureteric obstruction. In the WES analysis, the average coverage of the target exons was 99.05% (726 of 733 exons), with a range of 96.4-100% for individual genes. We identified four novel and two known pathogenic/likely pathogenic variants of five distinct genes in the examined families: PLEC:c.2536G > T (p.Glu846Ter); LAMC2:c.3385C > T (p.Arg1129Ter); KRT5:c.429G > A (p.Glu477Lys); ITGB4:c.794dupC (p.Ala266SerfsTer5); COL7A1:c.5440C > T (p.Arg1814Cys); and COL7A1:c.6103delG. All alleles were inherited from the parents, except for the KRT5 variant as a de novo finding. The findings reveal extremely rare phenotypes found in EB with CAS, namely congenital cloudy cornea, esophagogastric obstruction, and anuria, and extend the genotypic spectrum of EB-related genes. The data confirm that WES provides very high coverage of coding exons/genes and support its use as a reasonable alternative method for diagnosis of EB. The present data from an underrepresented population in Southeast Asia could further broaden the knowledge and research on EB.

Diagnostic accuracy of imaging approaches for early tumor detection in children with Li-Fraumeni syndrome.

BACKGROUND: The Toronto protocol for cancer surveillance in children with Li-Fraumeni syndrome has been adopted worldwide. OBJECTIVE: To assess the diagnostic accuracy of the imaging used in this protocol. MATERIALS AND METHODS: We conducted a blinded retrospective review of imaging modalities in 31 pediatric patients. We compared imaging findings with the reference standards, which consisted of (1) histopathological diagnosis, (2) corresponding dedicated imaging or subsequent surveillance imaging or (3) clinical outcomes. We individually analyzed each modality's diagnostic performance for cancer detection and assessed it on a per-study basis for chest and abdominal regional whole-body MRI (n=115 each), brain MRI (n=101) and abdominal/pelvic US (n=292), and on a per-lesion basis for skeleton/soft tissues on whole-body MRI (n=140). RESULTS: Of 763 studies/lesions, approximately 80% had reference standards that identified 4 (0.7%) true-positive, 523 (85.3%) true-negative, 5 (0.8%) false-positive, 3 (0.5%) false-negative and 78 (12.7%) indeterminate results. There were 3 true-positives on whole-body MRI and 1 true-positive on brain MRI as well as 3 false-negatives on whole-body MRI. Sensitivities and specificities of tumor diagnosis using a worst-case scenario analysis were, respectively, 40.0% (95% confidence interval [CI]: 7.3%, 83.0%) and 38.2% (95% CI: 29.2%, 48.0%) for skeleton/soft tissues on whole-body MRI; sensitivity non-available and 97.8% (95% CI: 91.4%, 99.6%) for chest regional whole-body MRI; 100.0% (95% CI: 5.5%, 100.0%) and 96.8% (95% CI: 90.2%, 99.2%) for abdominal regional whole-body MRI; sensitivity non-available and 98.3% (95% CI: 95.3, 99.4) for abdominal/pelvic US; and 50.0% (95% CI: 2.7%, 97.3%) and 93.8% (95% CI: 85.6%, 97.7%) for brain MRI. CONCLUSION: Considerations for optimizing imaging protocol, defining criteria for abnormalities, developing a structured reporting system, and practicing consensus double-reading may enhance the diagnostic accuracy for tumor surveillance.

Discrete Choice Experiment on a Magnetic Resonance Imaging Scoring System for Temporomandibular Joints in Juvenile Idiopathic Arthritis.

OBJECTIVE: To determine the relative importance weights of items and grades of a newly developed additive outcome measure called the juvenile idiopathic arthritis (JIA) magnetic resonance imaging (MRI) scoring system for the temporomandibular joint (TMJ) (JAMRIS-TMJ). METHODS: An adaptive partial-profile, discrete choice experiment (DCE) survey using the 1000Minds platform was independently completed by members of an expert group consisting of radiologists and non-radiologist clinicians to determine the group-averaged relative weights for the JAMRIS-TMJ. Subsequently, an image-based vignette ranking exercise was done, during which experts individually rank ordered 14 patient vignettes for disease severity while blinded to the weights and unrestricted to JAMRIS-TMJ assessment criteria. Validity of the weighted JAMRIS-TMJ was tested by comparing the consensus-graded, DCE-weighted JAMRIS-TMJ score of the vignettes with their unrestricted image-based ranks provided by the experts. RESULTS: Nineteen experts completed the DCE survey, and 21 completed the vignette ranking exercise. Synovial thickening and joint enhancement showed higher weights per raw score compared to bone marrow items and effusion in the inflammatory domain, while erosions and condylar flattening showed nonlinear and higher weights compared to disk abnormalities in the damage domain. The weighted JAMRIS-TMJ score of the vignettes correlated highly with the ranks from the unrestricted comparison method, with median Spearman's ρ of 0.92 (interquartile range [IQR] 0.87-0.95) for the inflammation and 0.93 (IQR 0.90-0.94) for the damage domain. CONCLUSION: A DCE survey was used to quantify the importance weights of the items and grades of the JAMRIS-TMJ. The weighted score showed high convergent validity with an unrestricted, holistic vignette ranking method.

Assessing the Reliability of the OMERACT Juvenile Idiopathic Arthritis Magnetic Resonance Scoring System for Temporomandibular Joints (JAMRIS-TMJ).

Contrast-enhanced magnetic resonance imaging (MRI) remains the most comprehensive modality to assess juvenile idiopathic arthritis (JIA)-related inflammation and osteochondral damage in the temporomandibular joints (TMJ). This study tested the reliability of a new JIA MRI scoring system for TMJ (JAMRIS-TMJ) and the impact of variations in calibration and reader specialty. Thirty-one MRI exams of bilateral TMJs were scored independently using the JAMRIS-TMJ by 20 readers consisting of radiologists and non-radiologist clinicians in three reading groups, with or without a calibrating atlas and/or tutorial. The inter-reader reliability in the multidisciplinary cohort assessed by the generalizability coefficient was 0.61-0.67 for the inflammatory and 0.66-0.74 for the damage domain. The atlas and tutorial did not improve agreement within radiologists, but improved the agreement between radiologist and non-radiologist groups. Agreements between different calibration levels were 0.02 to 0.08 lower by the generalizability coefficient compared to agreement within calibration levels; agreement between specialty groups was 0.04 to 0.10 lower than within specialty groups. Averaging two radiologists raised the reliability above 0.8 for both domains. Therefore, the reliability of JAMRIS-TMJ was moderate-to-good depending on the presence of specialty and calibration differences. The atlas and tutorial are necessary to improve reliability when the reader cohort consists of multiple specialties.

Low psoas muscle index as an unfavorable factor in children with end-stage liver disease undergoing liver transplantation.

Sarcopenia is common in cirrhotic adults and associated with waitlist mortality and worse outcome after liver transplantation. Psoas muscle mass has been used to define sarcopenia. Therefore, we aimed to determine the association between psoas muscle mass and waitlist mortality as well as post-transplant outcome in children with end-stage liver disease. Medical records and abdominal imaging of pediatric liver transplant candidates during 2010-2019 were reviewed. A subset of images was measured by two radiologists to determine inter-rater reliability. Psoas muscle surface area was determined at intervertebral lumbar disk 3-4 (L3-4) and 4-5 (L4-5) levels. PMI was calculated by psoas muscle surface area divided by height squared. We included 105 children, most with biliary atresia (84%). Patients with waitlist mortality had lower PMI compared to the ones who survived to transplantation (PMI at L3-4 levels 352.8 ± 162.5 vs. 416.8 ± 136.2 mm2 /m2 and at L4-5 levels 497.3 ± 167.8 vs. 571.4 ± 163.4 mm2 /m2 , both p = .04), but not in the multivariate analyses. For transplanted patients (n = 75), a higher rate of re-operation (39% vs. 15%, p = .03) and longer hospital stay (53 vs. 45 days, p = .02) were found in patients with lower PMI. Lower PMI is associated with higher re-operation rate and longer hospital stay following transplantation, but not waitlist mortality. PMI may be taken into consideration with other biomarkers to predict post-transplant complications.

Developing a reference MRI database for temporomandibular joints in healthy children and adolescents.

BACKGROUND: Recognition of normal temporomandibular joints (TMJs) is essential to assess arthropathic changes. Few, if any, prior studies have evaluated the morphological appearance of growing TMJs by magnetic resonance (MR) examinations in the pediatric population. OBJECTIVE: This study aimed to determine normative osseous appearance of growing TMJs according to age and gender, both qualitatively and quantitatively, concerning structural and bone marrow changes. MATERIALS AND METHODS: From 1,036 MR scans screened, one joint was included from each of 157 patients (76% female; 2-18 years) presenting with at least one normal-appearing TMJ was included. Quantitatively, mandibular condyle was characterized by measuring the following: (i) head-neck angle, (ii) anteversion angle, (iii) condylar dimensions (mediolateral, craniocaudal and anteroposterior [AP]) and (iv) condylar volume. Furthermore, qualitative categorization of condylar shape, into one of three types, and condylar bone marrow type was performed. RESULTS: The head-neck angle significantly correlated with age (bivariable regression ß =0.60, P<0.001), indicating an increase of 1.6 degrees per year. Except for AP diameter of condyles, all other mandibular dimensions and condylar volume increased with age (ß =0.20-0.59, P≤0.001-0.004). Significant age difference was observed among the different condylar shapes (P<0.001), indicating a change from rounded head without anterior tilt to rectangular head with anterior tilt. Lastly, mandibular condylar size, measured by volume and by AP and mediolateral dimensions, appeared larger in males. CONCLUSION: The morphology of the mandibular condyles changes with age. During development, the shape of the condyles changes from round to rectangular in contour with the development of the anterior condylar tilt, as measured by the head-neck angle.

Temporomandibular joint atlas for detection and grading of juvenile idiopathic arthritis involvement by magnetic resonance imaging.

Contrast-enhanced magnetic resonance imaging (MRI) is considered the diagnostic standard for identifying involvement of the temporomandibular joint by juvenile idiopathic arthritis. Early or active arthritis is shown as bone marrow oedema, joint effusion, synovial thickening and increased joint enhancement. Subsequent joint damage includes characteristic deformity of the mandibular condyle, bone erosion, disk abnormalities and short mandibular ramus due to impaired growth. In this pictorial essay, we illustrate normal MRI findings and growth-related changes of the temporomandibular joint in children. The rationale and practical application of semiquantitative MRI assessment of joint inflammation and damage are discussed and presented. This atlas can serve as a reference for grading temporomandibular joint arthritis according to the scoring systems proposed by working groups of OMERACT (Outcome Measures in Rheumatology and Clinical Trials) and the EuroTMjoint research network. Systematic assessment of the level of inflammation, degree of osteochondral deformation, and growth of the mandibular ramus by MRI may aid in monitoring the course of temporomandibular joint arthritis and evaluating treatment options.

Qualitative and semi-quantitative assessment of temporomandibular joint MRI protocols for juvenile idiopathic arthritis at 1.5 and 3.0T.

OBJECTIVE: Temporomandibular joints (TMJs) frequently develop silent inflammatory and osteochondral changes in children with juvenile idiopathic arthritis. Data-driven recommendations for TMJ imaging protocol are needed to reduce measurement error and scanning time. This study compares the impact of different protocols, imaging coils, and magnet strength on the reliability of image assessment and the subjective quality of images. MATERIALS AND METHODS: Three groups of bilateral TMJ MR studies were retrospectively collected from two institutions, including 24 1.5T and 19 3.0T studies using dedicated TMJ surface coils, and 23 1.5T studies with head coil. Post-contrast sequences were re-compiled from the full protocol to create minimum protocol studies for the three groups. Two radiologists and two non-radiologists first scored the three minimum protocol images according to pre-specified definitions, then scored the full protocol images. Minimum-to-full protocol agreement, inter-reader agreement, and subjective item visibility scores were assessed. RESULTS: With dedicated TMJ dual surface coils, minimum-vs-full protocol agreement was moderate to good (0.5-0.8 intraclass correlation coefficients or kappa) for most items, and was not influenced by the magnet strength. Inter-reader reliability was more significantly influenced by the imaging coil and reader's training background than by protocol length or magnet strength differences. Sagittal and coronal planes weighted on PD, T2 Fat Suppressed and T1 Fat Suppressed -postcontrast adequately visualized all the different features, whereas the axial plane was more limited to visualizing synovium. CONCLUSION: Inter-reader reliability and qualitative measure of image quality improved more consistently with the coil offering the higher resolution, rather than increased magnet strength.

Immature gastric teratoma in an infant: a case report and review of the literatures.

Immature gastric teratoma is an uncommon germ cell tumor of the stomach. We report a rare case of immature gastric teratoma in an infant with down syndrome with clinically presenting with hematemesis and severe anemia. Complete surgical resection remains the cornerstone of treatment.