Background:Cardiopulmonary exercise testing (CPET) is the gold standard for assessing cardiopulmonary responses to physical stress. Real-time magnetic resonance imaging (RT-MRI) enables continuous cardiovascular imaging during free breathing (FB) and dynamic exercise. Objective:This study aimed to develop a clinically applicable, easy-to-use MR-CPET protocol using user-friendly postprocessing software and to describe preliminary physiological observations in healthy subjects, forming the basis for future clinical applications. Material and Methods:Healthy adults (n = 12) underwent conventional cine cardiac magnetic resonance imaging (CMR) and cardiac RT-MRI at rest and during submaximal exercise in a 1.5 T MR scanner. The protocol included short-axis cine imaging for volumetry and phase-contrast imaging for aortic flow quantification. CPET was performed using an MR-compatible spirometry and a supine exercise setup enabling continuous measurement of respiratory airflow and gas exchange during image acquisition and simultaneous exercise. Data processing included automated spirometry analysis, temporal synchronization with RT-MRI, and ECG- and respiratory-based binning for volumetric reconstruction. Indexed oxygen consumption (VO₂i) and cardiac index (CI) were used to calculate the arteriovenous oxygen difference (a-vO2 diff) according to the Fick equation. Participant comfort was assessed. Results:The examination was well tolerated, with only minor discomfort related to the spirometry mask. RT-MRI showed strong agreement with conventional cine MRI for left ventricular volumes and ejection fraction at rest. Submaximal exercise significantly increased heart rate and ventilation, with concomitant increases in VO2i (201- 309 mL/min/m2) and CI (3.38- 4.24 L/min/m2), while ventricular volumes slightly decreased and ejection fraction remained unchanged. The calculated a-vO2 diff increased from 5.9 to 7.3 mL/dL, indicating enhanced peripheral oxygen extraction. Data conclusion:Combined CPET and cardiac RT-MRI using the presented user- and participant-friendly setup enables integrated assessment of cardiopulmonary performance and cardiovascular function during submaximal exercise and provides physiologically plausible Fick-derived measures of oxygen transport and utilization.

BACKGROUND:Cardiac real-time MRI (RT-MRI) in combination with MR-compatible spirometry (MRcS) offers unique opportunities to study heart-lung interactions. In contrast to other techniques that monitor respiration during MRI, MRcS provides quantitative respiratory data. Though MRcS is well tolerated, shortening of the scanning time with MRcS would be desirable, especially in young and sick patients. PURPOSE:The aim of the study was to predict airflow and lung volume based on RT-MR images after a short learning phase of combined RT-MRI and MRcS to provide respiratory data for subsequent short axis stack-based volumetries. METHODS:Cardiac RT-MRI (1.5 T; short axis; 30 frames/s) was acquired during free breathing in combination with MRcS in adult healthy subjects (n = 10). MR images with MRcS were recorded during a learning phase to collect training data. The iterative Lucas-Kanade method was applied to estimate optical flow from the captured MR images. A ridge regression model was fitted to predict airflow and thus also the lung volume from the estimated optical flow. Hyperparameters were estimated using leave-one-out cross validation and the performance was assessed on a held-out test dataset. Different durations and compositions of the learning phase were investigated to develop the most efficient measurement protocol. Coefficient of determination (R2), relative mean squared error (rMSE), Bland-Altman analysis on absolute tidal volume difference (aTVD), and absolute maximal airflow difference (aMFD) were used to validate the predictions on held-out test data. RESULTS:MRI combined with MRcS can train a machine learning algorithm to provide excellent predictive quantitative respiratory volume and flow for the remaining study. The optimal trade-off between predictive power and time necessary for training was reached with a shortened cardiac volumetry protocol covering only about two breaths per slice and every second slice (airflow: mean R2: 0.984, mean rMSE: 0.015, Bias aMFD: -0.01 L/s with +0.084/-0.1 95% CI and volume: mean R2: 0.990, mean rMSE: 0.003, Bias aTVD: 4.27 mL with +33/-24 95% CI) at a total duration of 100 s. Shorter protocols or application of the algorithm to subsequent studies in the same subject or even in different subjects still provided useful qualitative data. CONCLUSION:Machine-learning-based prediction of respiratory flow and lung volume from cardiac RT-MR images after a short training phase with MRcS is feasible and can help to shorten the time with MRcS while providing accurate respiratory data during RT-MRI.

A 13-year-old asymptomatic boy presented with new-onset extrasystoles. His initial electrocardiogram (ECG) showed an irregular heart rhythm with some sinus beats but also numerous premature atrial contractions with aberrant ventricular conduction. While the initial cardiovascular magnetic resonance (CMR) study could be performed conventionally, more irregular extrasystoles impeded the follow-up study. Therefore, cardiac real-time MRI (RT-MRI) was performed in combination with a simultaneously acquired ECG, which enabled high image quality and the analysis of sinus and arrhythmic beats separately. RT-MRI volumetry of the sinus beat showed a stable systolic function in the left ventricle (LV) [LV ejection fraction of 54.3% and LV stroke volume of 61.1 ml/m2 (90th percentile)] and increased but stable LV volumes [LV end-diastolic volume of 112.6 ml/m2 (>97th percentile) and LV end-systolic volume of 51.1 ml/m2 (>97th percentile)]. In contrast, right ventricular (RV) function was reduced in sinus beats. In the premature contractions, RV and LV end-diastolic volume, stroke volume, and ejection fraction were lower, while the end-systolic volume was higher. In this patient with severe cardiac arrhythmias, conventional CMR could not provide adequate image quality. RT-MRI offered high image quality during free breathing and, in combination with an ECG, it provided a unique opportunity to analyze the hemodynamics of the premature beats and sinus beats as separate entities.

The aim of our study was to assess the attitudes towards AI and teleradiology and their current usage in pediatric radiology within German-speaking countries.From March to May 2023, we conducted an anonymous online survey among members of the Society for German-speaking Pediatric Radiologists (GPR) and the Swiss Society for Pediatric Radiology (SGPR) via the SurveyMonkey platform. The survey consisted of 25 items with rating scales and open-ended responses.Out of 418 society members, 36 completed the questionnaire (8.6%). Teleradiology (50% fully agree, 27.8% partly agree) and AI (38.9% fully agree, 22.2% partly agree) were considered relevant for pediatric radiology by the majority of respondents. Teleconsultation for second opinions is regularly used in 58% of the departments. Currently, AI does not play a significant role in the daily work of 52.8% of respondents. Beyond segmentation, AI is used primarily for image acquisition and dose reduction. Over 80% of respondents indicated that bone age determination is well-suited for an AI solution, yet only 31% routinely use such a solution.AI and teleradiology have a high level of acceptance in German-speaking pediatric radiology (Germany, Austria, Switzerland, i.e. the DACH region) and are seen as a possible strategy for improving pediatric radiology care. This contrasts with the current low level of use in clinical routine. · Pediatric radiologists in the DACH region consider AI and teleradiology to be important for pediatric radiology care.. · AI/teleradiology are seen as viable options to enhance pediatric radiology care.. · However, the actual use of AI/teleradiology in everyday routine is low.. · Sturm M, von Kalle T, Renz DM et al. Artificial Intelligence and Teleradiology in Pediatric Radiology: A Survey by the Society for German-speaking Pediatric Radiologists (GPR) and the Swiss Society for Pediatric Radiology (SGPR). Rofo 2025; 197: 1311-1318.

Neurodevelopmental disorders are major indications for genetic referral and have been linked to more than 1500 loci including genes encoding transcriptional regulators. The dysfunction of transcription factors often results in characteristic syndromic presentations; however, at least half of these patients lack a genetic diagnosis. The implementation of machine learning approaches has the potential to aid in the identification of new disease genes and delineate associated phenotypes.Next generation sequencing was performed in seven affected individuals with neurodevelopmental delay and dysmorphic features. Clinical characterization included reanalysis of available neuroimaging datasets and 2D portrait image analysis with GestaltMatcher. The functional consequences of ZSCAN10 loss were modelled in mouse embryonic stem cells (mESCs), including a knockout and a representative ZSCAN10 protein truncating variant. These models were characterized by gene expression and western blot analyses, chromatin immunoprecipitation and quantitative PCR (ChIP-qPCR) and immunofluorescence staining. Zscan10 knockout mouse embryos were generated and phenotyped.We prioritized bi-allelic ZSCAN10 loss-of-function variants in seven affected individuals from five unrelated families as the underlying molecular cause. RNA-sequencing analyses in Zscan10-/- mESCs indicated dysregulation of genes related to stem cell pluripotency. In addition, we established in mESCs the loss-of-function mechanism for a representative human ZSCAN10 protein truncating variant by showing alteration of its expression levels and subcellular localization, interfering with its binding to DNA enhancer targets. Deep phenotyping revealed global developmental delay, facial asymmetry and malformations of the outer ear as consistent clinical features. Cerebral MRI showed dysplasia of the semicircular canals as an anatomical correlate of sensorineural hearing loss. Facial asymmetry was confirmed as a clinical feature by GestaltMatcher and was recapitulated in the Zscan10 mouse model along with inner and outer ear malformations.Our findings provide evidence of a novel syndromic neurodevelopmental disorder caused by bi-allelic loss-of-function variants in ZSCAN10. Laugwitz et al. describe a novel syndromic neurodevelopmental disorder with characteristic malformations of the face and of the inner and outer ear. The autosomal recessive disorder is caused by biallelic loss-of-function variants in the ZSCAN10 gene.

Background Congenital heart disease (CHD) is often associated with chronic right ventricular (RV) volume overload. Real-time magnetic resonance imaging (MRI) enables the analysis of cardiac function during free breathing. Objective To evaluate the influence of respiration in pediatric patients with CHD and chronic RV volume overload. Methods and materials RV volume overload patients ( n =6) and controls ( n =6) were recruited for cardiac real-time MRI at 1.5 tesla during free breathing. Breathing curves from regions of interest reflecting the position of the diaphragm served for binning images in four different tidal volume classes, each in inspiration and expiration. Tidal volumes were estimated from these curves by data previously obtained by magnetic resonance-compatible spirometry. Ventricular volumes indexed to body surface area and Frank-Starling relationships referenced to the typical tidal volume indexed to body height (TTVi) were compared. Results Indexed RV end-diastolic volume (RV-EDVi) and indexed RV stroke volume (RV-SVi) increased during inspiration (RV-EDVi/TTVi: RV load: + 16 ± 4%; controls: + 22 ± 13%; RV-SVi/TTVi: RV load: + 21 ± 6%; controls: + 35 ± 17%; non-significant for comparison). The increase in RV ejection fraction during inspiration was significantly lower in RV load patients (RV load: + 1.1 ± 2.2%; controls: + 6.1 ± 1.5%; P =0.01). The Frank-Starling relationship of the RV provided a significantly reduced slope estimate in RV load patients (inspiration: RV load: 0.75 ± 0.11; controls: 0.92 ± 0.02; P =0.02). Conclusion In pediatric patients with CHD and chronic RV volume overload, cardiac real-time MRI during free breathing in combination with respiratory-based binning indicates an impaired Frank-Starling relationship of the RV. Graphical Abstract

Background: Respiration modifies cardiac function. Our aim was to analyze those interactions under physiological conditions. Real-time MRI is a technique which allows for a high temporal resolution while maintaining a high spatial resolution. In combination with MR-compatible spirometry, it is particularly useful to quantify changes due to respiration.

Purpose: Mechanistic target of rapamycin (mTOR) complex 1 (mTORC1) regulates cell growth in response to nutritional status. Central to the mTORC1 function is the Rag-GTPase heterodimer. One component of the Rag heterodimer is RagC (Ras-related GTP-binding protein C), which is encoded by the RRAGC gene. Methods: Genetic testing via trio exome sequencing was applied to identify the underlying disease cause in 3 infants with dilated cardiomyopathy, hepatopathy, and brain abnormalities, including pachygyria, polymicrogyria, and septo-optic dysplasia. Studies in patient-derived skin fibroblasts and in a HEK293 cell model were performed to investigate the cellular consequences. Results: We identified 3 de novo missense variants in RRAGC (NM_022157.4: c.269C>A, p.(Thr90Asn), c.353C>T, p.(Pro118Leu), and c.343T>C, p.(Trp115Arg)), which were previ-ously reported as occurring somatically in follicular lymphoma. Studies of patient-derived fibroblasts carrying the p.(Thr90Asn) variant revealed increased cell size, as well as dysregulation of mTOR-related p70S6K (ribosomal protein S6 kinase 1) and transcription factor EB signaling. Moreover, subcellular localization of mTOR was decoupled from metabolic state. We confirmed the key findings for all RRAGC variants described in this study in a HEK293 cell model. Conclusion: The above results are in line with a constitutive overactivation of the mTORC1 pathway. Our study establishes de novo missense variants in RRAGC as cause of an early-onset mTORopathy with unfavorable prognosis. & COPY; 2023 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

Classical homocystinuria is caused by pathogenic variants in the CBS gene leading to a deficiency of the vitamin B6-dependent enzyme cystathionine beta synthase. The disease is typically associated with high blood homocysteine concentrations. Clinical features include developmental delay/intellectual disability, psychiatric problems, thromboembolism, lens dislocation, and marfanoid habitus. We report on a child with classical homocystinuria presenting with acute episodes of dystonia and symmetrical basal ganglia abnormalities mimicking a mitochondrial disease. After starting treatment with vitamin B6, homocysteine levels rapidly normalized and dystonic episodes did not re-occur. Moreover, brain-imaging findings almost completely disappeared. The case illustrates that homocystinuria should be considered as a treatable differential diagnosis of dystonia.

Objective Clinical-standard MRI is the imaging modality of choice for the wrist, yet limited to static evaluation, thereby potentially missing dynamic instability patterns. We aimed to investigate the clinical benefit of (dynamic) real-time MRI, complemented by automatic analysis, in patients with complete or partial scapholunate ligament (SLL) tears. Material and methods Both wrists of ten patients with unilateral SLL tears (six partial, four complete tears) as diagnosed by clinical-standard MRI were imaged during continuous active radioulnar motion using a 1.5-T MRI scanner in combination with a custom-made motion device. Following automatic segmentation of the wrist, the scapholunate and lunotriquetral joint widths were analyzed across the entire range of motion (ROM). Mixed-effects model analysis of variance (ANOVA) followed by Tukey’s posthoc test and two-way ANOVA were used for statistical analysis. Results With the increasing extent of SLL tear, the scapholunate joint widths in injured wrists were significantly larger over the entire ROM compared to those of the contralateral healthy wrists ( p <0.001). Differences between partial and complete tears were most pronounced at 5°–15° ulnar abduction ( p <0.001). Motion patterns and trajectories were altered. Complete SLL deficiency resulted in complex alterations of the lunotriquetral joint widths. Conclusion Real-time MRI may improve the functional diagnosis of SLL insufficiency and aid therapeutic decision-making by revealing dynamic forms of dissociative instability within the proximal carpus. Static MRI best differentiates SLL-injured wrists at 5°–15° of ulnar abduction.

Coenzyme Q(10) (CoQ(10)) is an endogenously synthesized lipid molecule. It is best known for its role as a cofactor within the mitochondrial respiratory chain where it functions in electron transfer and ATP synthesis. However, there are many other cellular pathways that also depend on the CoQ(10) supply (redox homeostasis, ferroptosis and sulfide oxidation). The CoQ(10) biosynthesis pathway consists of several enzymes, which are encoded by the nuclear DNA. The majority of these enzymes are responsible for modifications of the CoQ-head group (benzoquinone ring). Only three enzymes (PDSS1, PDSS2 and COQ2) are required for assembly and attachment of the polyisoprenoid side chain. The head-modifying enzymes may assemble into resolvable domains, representing COQ complexes. During the last two decades, numerous inborn errors in CoQ(10) biosynthesis enzymes have been identified. Thus far, 11 disease genes are known (PDSS1, PDSS2, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9 and HPDL). Disease onset is highly variable and ranges from the neonatal period to late adulthood. CoQ(10) deficiency exerts detrimental effects on the nervous system. Potential consequences are neuronal death, neuroinflammation and cerebral gliosis. Clinical features include encephalopathy, regression, movement disorders, epilepsy and intellectual disability. Brain magnetic resonance imaging (MRI) is the most important tool for diagnostic evaluation of neurological damage in individuals with CoQ(10) deficiency. However, due to the rarity of the different gene defects, information on disease manifestations within the central nervous system is scarce. This review aims to provide an overview of brain MRI patterns observed in primary CoQ(10) biosynthesis disorders and to highlight disease-specific findings.

Real-time MRI (rt-MRI) in children is a new imaging technique that combines the advantages of US — at frame rates of up to 50 images per second — with the quality and features of MRI. Although still subject of research, it has become a standard tool in the diagnostic portfolio of two pediatric radiology departments in Germany. Based on ultrashort acquisition times, any detrimental effects of macroscopic movements of the child and the physiological movements of the organs are negligible. Especially in pediatric brain imaging, rt-MRI has already proven its value. With suitable indications, rt-MRI can reduce anesthesia and sedation examinations in children below 6 years of age by 40

In medicine, especially in radiology, artificial intelligence has sparked a growing interest in automated systems, image analysis, and acquisition standardization. In the wake of this standardization, the research field of “radiomics” has gained importance. Using computer-aided analysis, image data and contours can be evaluated to determine numerical values for shape, size, and gray-scale texture, which can then be examined in a clinical context. Especially in cardiovascular imaging, data acquisition and analysis in different cardiac and respiratory phases are of great interest. However, most research studies use parameters that have been laboriously calculated by hand. “ShortCardiac” is a Python-based framework with a user-friendly GUI for the quantitative determination of cardiac MR parameters. This allows researchers to utilize quantitative MR research for their studies without programming knowledge, with just a few clicks. All calculated parameters can be displayed graphically. “shortCardiac” allows the visualization of segmentation contours, the angle-dependent length measurement, the center of gravity and much more, in addition, the background can be hidden, and the images can be cropped automatically. In addition, “shortCardiac” can also be called via python and due to the object-oriented design, it is possible to integrate new segmentation frameworks with little effort in the future as well as to determine additional parameters. However, “ShortCardiac” comes with certain limitations. It only assesses cardiac short-axis data and functions merely as a post-processing framework for determining surrogate parameters based on segmentation and image information. Manual segmentations or usage of fully automated segmentations, such as Circle cvi42, require additional software tools. Regardless of these restrictions, “ShortCardiac” provides an efficient, user-friendly tool, enabling researchers to capitalize on the expanding domain of radiomics.

A 10-month-old boy presented with fever, vomiting, and treatment-refractory status epilepticus. Viral encephalitis was suspected, however, blood and cerebrospinal fluid tests as well as multiplex polymerase chain reaction for detection of respiratory viruses were unremarkable. Laboratory investigations including liver function parameters revealed no abnormalities. Brain magnetic resonance imaging showed multifocal T2-hyperintense cortical and subcortical lesions including both thalami ([Fig. 1]). Exome sequencing revealed a heterozygous mutation in RANBP2 (ENST00000283195.6: c.1754C > T,p.Thr585Met) causing acute necrotizing encephalopathy (ANE1).[1] [2] A second episode with fever-triggered encephalopathy occurred at the age of 12 months. Methylprednisolone therapy was initiated (20 mg/kg body weight per day for three consecutive days), leading to rapid clinical improvement (subsidence of seizures, vigilance improvement). The case underlines the importance of neurogenetic diseases as differential diagnosis in cases of suspected neuroinflammation.

Die 59. Jahrestagung der Gesellschaft fur Padiatrische Radiologie findet in diesem Jahr im Rahmen der Jahrestagung der Deutschen Gesellschaft fur Kinder- und Jugendmedizin (DGKJ) statt. Vom 7. bis 10. September werden in Dusseldorf daher Teilnehmer*innen aus den verschiedensten Fachbereichen der Padiatrie erwartet. Dr. Dirk Klee, Kongressprasident der GPR, gibt im Interview einen Einblick in das kinderradiologische Programm.

Cardiac real-time magnetic resonance imaging (RT-MRI) provides high-quality images even during free-breathing. Difficulties in post-processing impede its use in clinical routine. To demonstrate the feasibility of quantitative analysis of cardiac free-breathing RT-MRI and to compare image quality and volumetry during free-breathing RT-MRI in pediatric patients to standard breath-hold cine MRI. Pediatric patients (n = 22) received cardiac RT-MRI volumetry during free breathing (1.5 T; short axis; 30 frames per s) in addition to standard breath-hold cine imaging in end-expiration. Real-time images were binned retrospectively based on electrocardiography and respiratory bellows. Image quality and volumetry were compared using the European Cardiovascular Magnetic Resonance registry score, structure visibility rating, linear regression and Bland–Altman analyses. Additional time for binning of real-time images was 2 min. For both techniques, image quality was rated good to excellent. RT-MRI was significantly more robust against artifacts (P < 0.01). Linear regression revealed good correlations for the ventricular volumes. Bland–Altman plots showed a good limit of agreement (LoA) for end-diastolic volume (left ventricle [LV]: LoA -0.1 ± 2.7 ml/m2, right ventricle [RV]: LoA -1.9 ± 3.4 ml/m2), end-systolic volume (LV: LoA 0.4 ± 1.9 ml/m2, RV: LoA 0.6 ± 2.0 ml/m2), stroke volume (LV: LoA -0.5 ± 2.3 ml/m2, RV: LoA -2.6 ± 3.3 ml/m2) and ejection fraction (LV: LoA -0.5 ± 1.6%, RV: LoA -2.1 ± 2.8%). Compared to standard cine MRI with breath hold, RT-MRI during free breathing with retrospective respiratory binning offers good image quality, reduced image artifacts enabling fast quantitative evaluations of ventricular volumes in clinical practice under physiological conditions.

Purpose To test the feasibility of cardiac real‐time MRI in combination with retrospective gating by MR‐compatible spirometry, to improve motion control, and to allow quantification of respiratory‐induced changes during free‐breathing. Methods Cross‐sectional real‐time MRI (1.5T; 30 frames/s) using steady‐state free precession contrast during free‐breathing was combined with MR‐compatible spirometry in healthy adult volunteers ( n = 4). Retrospective binning assigned images to classes that were defined by electrocardiogram and spirometry. Left ventricular eccentricity index as an indicator of septal position and ventricular volumes in different respiratory phases were calculated to assess heart–lung interactions. Results Real‐time MRI with MR‐compatible spirometry is feasible and well tolerated. Spirometry‐based binning improved motion control significantly. The end‐diastolic epicardial eccentricity index increased significantly during inspiration (1.04 ± 0.04 to 1.19 ± 0.05; P < .05). During inspiration, right ventricular end‐diastolic volume (79 ± 17 mL/m 2 to 98 ± 18 mL/m 2 ), stroke volume (41 ± 8 mL/m 2 to 59 ± 11 mL/m 2 ) and ejection fraction (53 ± 3% to 60 ± 1%) increased significantly, whereas the end‐systolic volume remained almost unchanged. Left ventricular end‐diastolic volume, left ventricular stroke volume, and left ventricular ejection fraction decreased during inspiration, whereas the left ventricular end‐systolic volume increased. The relationship between stroke volume and end‐diastolic volume (Frank‐Starling relationship) based on changes induced by respiration allowed for a slope estimate of the Frank‐Starling curve to be 0.9 to 1.1. Conclusion Real‐time MRI during free‐breathing combined with MR‐compatible spirometry and retrospective binning improves image stabilization, allows quantitative image analysis, and importantly, offers unique opportunities to judge heart–lung interactions.