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Objective: The goal was to develop and validate classification criteria for axial juvenile spondyloarthritis (SpA; AxJSpA)., Methods: This international initiative consisted of four phases: (1) item generation, (2) item reduction, (3) criteria development, and (4) validation of the AxJSpA criteria by an independent team of experts in an internationally representative validation cohort., Results: These criteria are intended to be used on youth with a physician diagnosis of juvenile SpA and for whom axial disease is suspected. Item generation consisted of a systematic literature review and a free-listing exercise using input from international physicians, which collectively resulted in 108 items. After the item reduction exercise and expert panel input, 37 items remained for further consideration. The final AxJSpA criteria domains included the following: imaging of active inflammation, imaging of structural lesions, pain chronicity, pain pattern, pain location, stiffness, and genetics. The most heavily weighted domains were active inflammation and structural lesions on imaging. Imaging typical of sacroiliitis was deemed necessary, but not sufficient, to classify a youth with AxJSpA. The threshold for classification of AxJSpA was a score of ≥55 (out of 100). When tested in the validation data set, the final criteria had a specificity of 97.5% (95% confidence interval [CI] 91.4%-99.7%), sensitivity of 64.3% (95% CI 54.9%-73.1%), and area under the receiver operating characteristic curve of 0.81 (95% CI 0.76%-0.86%)., Conclusion: The new AxJSpA classification criteria require an entry criterion and a physician diagnosis of juvenile SpA and include seven weighted domains. The AxJSpA classification criteria are validated and designed to identify participants for research studies., (© 2024 American College of Rheumatology.)

Fetal brain size is decreased in some children with complex CHDs, and the distribution of blood and accompanying oxygen and nutrients is regionally skewed from early fetal life dependent on the CHD. In transposition of the great arteries, deoxygenated blood preferentially runs to the brain, whereas the more oxygenated blood is directed towards the lungs and the abdomen. Knowledge of whether this impacts intrauterine organ development is limited. We investigated lung, liver, and total intracranial volume in fetuses with transposition of the great arteries using MRI.Eight fetuses with dextro-transposition and without concomitant disease or chromosomal abnormalities and 42 fetuses without CHD or other known diseases were scanned once or twice at gestational age 30 through 39 weeks. The MRI scans were conducted on a 1.5T system, using a 2D balanced steady-state free precession sequence. Slices acquired covered the entire fetus, slice thickness was 10 mm, pixel size 1.5 × 1.5 mm, and scan duration was 30 sec.The mean lung z score was significantly larger in fetuses with transposition compared with those without a CHD; mean difference is 1.24, 95% CI:(0.59;1.89), p < 0.001. The lung size, corrected for estimated fetal weight, was larger than in the fetuses without transposition; mean difference is 8.1 cm 3 /kg, 95% CI:(2.5;13.7 cm 3 /kg), p = 0.004.In summary, fetuses with dextro-transposition of the great arteries had both absolute and relatively larger lung volumes than those without CHD. No differences were seen in liver and total intracranial volume. Despite the small number of cases, the results are interesting and warrant further investigation.

Purpose: In respiratory disorders such as thoracic insufficiency syndrome (TIS), the quantitative study of the regional motion of the left hemi-diaphragm (LHD) and right hemi-diaphragm (RHD) can give detailed insights into the distribution and severity of the abnormalities in individual patients. Dynamic magnetic resonance imaging (dMRI) is a preferred imaging modality for capturing dynamic images of respiration since dMRI does not involve ionizing radiation and can be obtained under free-breathing conditions. Using 4D images constructed from dMRI of sagittal locations, diaphragm segmentation is an evident step for the said quantitative analysis of LHD and RHD in these 4D images., Methods: In this paper, we segment the LHD and RHD in three steps: recognition of diaphragm, delineation of diaphragm, and separation of diaphragm along the mid-sagittal plane into LHD and RHD. The challenges involved in dMRI images are low resolution, motion blur, suboptimal contrast resolution, inconsistent meaning of gray-level intensities for the same object across multiple scans, and low signal-to-noise ratio. We have utilized deep learning (DL) concepts such as Path Aggregation Network and Dual Attention Network for the recognition step, Dense-Net and Residual-Net in an enhanced encoder-decoder architecture for the delineation step, and a combination of GoogleNet and Recurrent Neural Network for the identification of the mid-sagittal plane in the separation step. Due to the challenging images of TIS patients attributed to their highly distorted and variable anatomy of the thorax, in such images we localize the diaphragm using the auto-segmentations of the lungs and the thoraco-abdominal skin., Results: We achieved an average±SD mean-Hausdorff distance of ∼3±3 mm for the delineation step and a positional error of ∼3±3 mm in recognizing the mid-sagittal plane in 100 3D test images of TIS patients with a different set of ∼430 3D images of TIS patients utilized for building the models for delineation, and separation. We showed that auto-segmentations of the diaphragm are indistinguishable from segmentations by experts, in images of near-normal subjects. In addition, the algorithmic identification of the mid-sagittal plane is indistinguishable from its identification by experts in images of near-normal subjects., Conclusions: Motivated by applications in surgical planning for disorders such as TIS, we have shown an auto-segmentation set-up for the diaphragm in dMRI images of TIS pediatric subjects. The results are promising, showing that our system can handle the aforesaid challenges. We intend to use the auto-segmentations of the diaphragm to create the initial ground truth (GT) for newly acquired data and then refining them, to expedite the process of creating GT for diaphragm motion analysis, and to test the efficacy of our proposed method to optimize pre-treatment planning and post-operative assessment of patients with TIS and other disorders.

Friedreich's ataxia (FRDA) is a progressive disorder caused by insufficient expression of frataxin, which plays a critical role in assembly of iron-sulfur centers in mitochondria. Individuals are cognitively normal but display a loss of motor coordination and cardiac abnormalities. Many ultimately develop heart failure. Administration of nicotinamide adenine dinucleotide-positive (NAD+) precursors has shown promise in human mitochondrial myopathy and rodent models of heart failure, including mice lacking frataxin in cardiomyocytes. We studied mice with systemic knockdown of frataxin (shFxn), which display motor deficits and early mortality with cardiac hypertrophy. Hearts in these mice do not "fail" per se but become hyperdynamic with small chamber sizes. Data from an ongoing natural history study indicate that hyperdynamic hearts are observed in young individuals with FRDA, suggesting that the mouse model could reflect early pathology. Administering nicotinamide mononucleotide or riboside to shFxn mice increases survival, modestly improves cardiac hypertrophy, and limits increases in ejection fraction. Mechanistically, most of the transcriptional and metabolic changes induced by frataxin knockdown are insensitive to NAD+ precursor administration, but glutathione levels are increased, suggesting improved antioxidant capacity. Overall, our findings indicate that NAD+ precursors are modestly cardioprotective in this model of FRDA and warrant further investigation.

Purpose To evaluate lymphatic abnormalities before and after Fontan completion using noncontrast lymphatic imaging and relate findings with postoperative outcomes. Materials and Methods This study is a retrospective review of noncontrast T2-weighted lymphatic imaging performed at The Children's Hospital of Philadelphia from June 2012 to February 2023 in patients with single ventricle physiology. All individuals with imaging at both pre-Fontan and Fontan stages were eligible. Lymphatic abnormalities were classified into four types based on severity and location of lymphatic vessels. Classifications were compared between images and related to clinical outcomes such as postoperative drainage and hospitalization, lymphatic complications, heart transplant, and death. Results Forty-three patients (median age, 10 years [IQR, 8-11]; 20 [47%] boys, 23 [53%] girls) were included in the study. Lymphatic abnormalities progressed in 19 individuals after Fontan completion (distribution of lymphatic classifications: type 1, 23; type 2, 11; type 3, 6; type 4, 3 vs type 1, 10; type 2, 18; type 3, 10; type 4, 5; P = .04). Compared with individuals showing no progression of lymphatic abnormalities, those progressing to a high-grade lymphatic classification had longer postoperative drainage (median time, 9 days [IQR, 6-14] vs 17 days [IQR, 10-23]; P = .04) and hospitalization (median time, 13 days [IQR, 9-25] vs 26 days [IQR, 18-30]; P = .03) after Fontan completion and were more likely to develop chylothorax (12% [three of 24] vs 75% [six of eight]; P < .01) and/or protein-losing enteropathy (0% [0 of 24] vs 38% [three of eight]; P < .01) during a median follow-up of 8 years (IQR, 5-9). Progression to any type was not associated with an increased risk of adverse events. Conclusion The study demonstrated that lymphatic structural abnormalities may progress in select individuals with single ventricle physiology after Fontan completion, and progression of abnormalities to a high-grade classification was associated with worse postoperative outcomes. Keywords: Congenital Heart Disease, Glenn, Fontan, Lymphatic Imaging, Cardiovascular MRI Supplemental material is available for this article. Published under a CC BY 4.0 license.