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Magnetic resonance (MR) imaging is widely used for assessing infant head and brain development and for diagnosing pathologies. The main goal of this work is the development of a segmentation framework to create patient-specific head and brain anatomical models from MR images for clinical evaluation. The proposed strategy consists of a fusion-based Deep Learning (DL) approach that combines the information of different image sequences within the MR acquisition protocol, including the axial T1w, sagittal T1w, and coronal T1w after contrast. These image sequences are used as input for different fusion encoder–decoder network architectures based on the well-established U-Net framework. Specifically, three different fusion strategies are proposed and evaluated, namely early, intermediate, and late fusion. In the early fusion approach, the images are integrated at the beginning of the encoder–decoder architecture. In the intermediate fusion strategy, each image sequence is processed by an independent encoder, and the resulting feature maps are then jointly processed by a single decoder. In the late fusion method, each image is individually processed by an encoder–decoder, and the resulting feature maps are then combined to generate the final segmentations. A clinical in-house dataset consisting of 19 MR scans was used and divided into training, validation, and testing sets, with 3 MR scans defined as a fixed validation set. For the remaining 16 MR scans, a cross-validation approach was adopted to assess the performance of the methods. The training and testing processes were carried out with a split ratio of 75% for the training set and 25% for the testing set. The results show that the early and intermediate fusion methodologies presented the better performance (Dice coefficient of 97.6 ± 1.5% and 97.3 ± 1.8% for the head and Dice of 94.5 ± 1.7% and 94.8 ± 1.8% for the brain, respectively), whereas the late fusion method generated slightly worst results (Dice of 95.5 ± 4.4% and 93.8 ± 3.1% for the head and brain, respectively). Nevertheless, the volumetric analysis showed that no statistically significant differences were found between the volumes of the models generated by all the segmentation strategies and the ground truths. Overall, the proposed frameworks demonstrate accurate segmentation results and prove to be feasible for anatomical model analysis in clinical practice. [ABSTRACT FROM AUTHOR]

Background: Gadobutrol is a gadolinium-based contrast agent, uniquely formulated at 1.0 mmol/ml. Although there is extensive safety evidence on the use of gadobutrol in adults, few studies have addressed the safety and tolerability of gadobutrol in pediatric patients.Objective: This subanalysis of data from the GARDIAN study evaluated the safety and use of gadobutrol in pediatric patients (age <18 years).Materials and Methods: The GARDIAN study was a large phase IV non-interventional prospective multicenter post-authorization safety study performed in Europe, Asia, North America and Africa. A total of 23,708 patients were included who were scheduled to undergo cranial or spinal MRI, liver or kidney MRI, or MR angiography with gadobutrol enhancement. The primary study endpoint was the overall incidence of adverse drug reactions (ADRs) and serious adverse events (SAEs) following gadobutrol administration.Results: The GARDIAN study included 1,142 children (age <18 years) who received gadobutrol at a mean dose of 0.13 (range 0.04-0.50) mmol/kg body weight. Gadobutrol was well tolerated in these children, with low rates of ADRs (0.5%) and no SAEs, consistent with results in adults enrolled in the GARDIAN study. Rates of adverse events and ADRs were unrelated to pediatric age or gadobutrol weight-adjusted dose. There were no symptoms suggestive of nephrogenic systemic fibrosis. Investigators rated the contrast quality of gadobutrol-enhanced images as good or excellent in 97.8% of pediatric patients, similar to the main study population.Conclusion: Gadobutrol is very well tolerated and provides excellent contrast quality at the recommended weight-adjusted dose in children (age <18 years), similar to the profile in adults. [ABSTRACT FROM AUTHOR]

Background: Only a few cases have been previously published about clear cell meningiomas in children, the majority of them in the location of the spine. We describe an unusual case of clear cell meningioma occurring at the petro-clival region in a 5-year-old child. We further seek to determine the impact of several growth factors as well as the AKT1 mutation on the tumor growth pattern. Case presentation: A five-year-old girl was presented with a one-week history of cephalgia, ataxia, and left sided torticollis. Magnetic resonance imaging (MRI) revealed a dumbbell-shaped homogeneously petro-clival gadolinium-enhancing mass. A staged operative approach was chosen, and a complete removal of the tumor was achieved. Due to recurrent tumor progression, the child underwent several tumor surgeries and two cranial radiations. None of the treatments were able to stop tumor progression. Consequently, the child died at the age of 14 after further extensive intracranial and extracranial tumor progression. The initial histological examination revealed a clear cell meningioma WHO grade II with an MIB-1 labeling index of <1 %, which gradually increased with every recurrence up to 10 % by the last progression at the age of 13 years. Analogically, an increasing overexpression of epidermal growth factor receptor (EGFR), the platelet-derived growth factor receptor (PDGFR), and the vascular endothelial growth factor receptor (VEGFR) was observed with each recurrence. The AKT1 (E17K) mutation in the tumor was not detectable in all investigated specimens. Conclusion: Pediatric clear cell meningiomas WHO grade II are very rare. Our data demonstrate the progressive overexpression of EGF-, PDGF-, and VEGF-receptors in each recurrence, providing one of these receptors as targeted therapy in such cases. Further evaluation of these growth factors in clear cell meningioma is required to establish the optimal treatment of these aggressive tumors. [ABSTRACT FROM AUTHOR]

Juvenile systemic lupus erythematosus is a rare multisystemic autoimmune disease with variable clinical manifestations, and disease onset before 16 years of age. Patients younger than 5 years are rarely affected and the age of onset may contribute to the course of disease in terms of clinical presentation, organ involvement, and serological findings. Here, we report two exemplary early-onset SLE patients, a 28-month-old patient with WHO class IIB kidney disease, arthritis, and a typical antibody constellation and an 11-month-old infant that presented with microcytic anemia, leukocytosis, arthritis, fasciitis, fatty liver disease, protein losing enteropathy, edema, and minimal change glomerulonephritis. Epidemiologic and clinical features of early-onset SLE compared to other forms of SLE are given and differential diagnoses and treatment options are discussed. [ABSTRACT FROM AUTHOR]

Objectives: To compare MRI-based functional pulmonary and cardiac measurements in the long-term follow-up of children operated on for left-sided congenital diaphragmatic hernia (CDH) with age- and body size-matched healthy controls.Methods: Twelve children who received immediate postnatal surgery for closure of isolated left-sided CDH were included and received basic medical examinations, pulmonary function testing and echocardiography. MRI included measurement of lung volume, ventricular function assessment and velocity-encoded imaging of the pulmonary arteries and was compared with the data for 12 healthy children matched for age and body size.Results: While patients' clinical test results were not suspicious, comparison between the MRI data for patients and those for healthy controls revealed significant differences. In patients, the volumes of the left lungs were increased and the tidal volume was larger on the right side. While the stroke volumes of both ventricles were reduced, heart rate and ejection fraction were increased. Flow, acceleration time and cross-sectional area of the left pulmonary artery were reduced.Conclusion: Functional MRI detected pulmonary and cardiac findings in the late follow-up of CDH children which may be missed by standard clinical methods and might be relevant for decisions regarding late outcome and treatment. [ABSTRACT FROM AUTHOR]

Tuberous sclerosis (TSC) is an autosomal dominantly inherited multisystemic disease characterized by the development of hamartomas predominantly in brain and kidneys. The TSC2 gene for tuberous sclerosis is localized on chromosome 16p13.3 immediately adjacent to PKDI, the gene for autosomal dominant polycystic kidney disease (ADPKD). A TSC2-PKDI contiguous gene syndrome caused by chromosomal microdeletions disrupting both the TSC2 and PKDI genes has been identified in patients with TSC and early-onset severe ADPKD. We report a 3-month-old Caucasian girl of non- consanguineous parents with TSC and early manifestation of ADPKD. She presented with right-sided focal seizures, two small hypopigmented areas on the left flank, and elevated blood pressure requiring antihypertensive treatment. Brain magnetic resonance imaging revealed typical signs of tuberous sclerosis and abdominal ultrasonography showed bilaterally enlarged kidneys with multiple cysts resembling those seen in ADPKD. There was no family history of renal disease or of tuberous sclerosis. Findings were highly suspicious of TSC2-PKD1 contiguous gene syndrome. Using fluorescence in situ hybridization and plasmid probe CW23, which spans the adjacent 3' regions of TSC2 and PKD1 genes, we identified a submicroscopic deletion on only one of the chromosomes 16p13.3, thus permitting the diagnosis of the TSC2-PKD1 contiguous gene syndrome. [ABSTRACT FROM AUTHOR]