Reference Range of Quantitative MRI Metrics Corrected T1 and Liver Fat Content in Children and Young Adults: Pooled Participant Analysis.

Background: Multiparametric MRI markers of liver health corrected T1 (cT1) and proton density fat fraction (PDFF) have shown utility in the management of various chronic liver diseases. We assessed the normal population reference range of both cT1 and PDFF in healthy child and adult volunteers without any known liver disease.

Methods: A retrospective multi-centre pooled analysis of 102 child and young adult (9.

Evaluation of differential renal function in children - a comparative study between magnetic resonance urography and dynamic renal scintigraphy.

Background: Urinary system anomalies, both congenital and acquired, constitute a relatively common clinical problem in children. The main role of diagnostic imaging is to determine early diagnosis and support therapeutic decisions to prevent the development of chronic renal disease. The aim of this study was to evaluate the utility of magnetic resonance urography (MRU) in assessment of urinary system in children, by comparing differential renal function calculated using MRU with dynamic renal scintigraphy (DRS).

Quantitative digital pathology enables automated and quantitative assessment of inflammatory activity in patients with autoimmune hepatitis.

Background: Chronic liver disease diagnoses depend on liver biopsy histopathological assessment. However, due to the limitations associated with biopsy, there is growing interest in the use of quantitative digital pathology to support pathologists. We evaluated the performance of computational algorithms in the assessment of hepatic inflammation in an autoimmune hepatitis in which inflammation is a major component.

Volume of the normal prostate gland in polish boys, aged 1-17 years: Based on transabdominal ultrasound - Prospective study.

Background: Until now, there are no established norms for prostate size in children. Prostate volume during development has been analyzed in small study groups. In diagnostic imaging, transabdominal ultrasound and magnetic resonance imaging are used.

-Related Ciliopathy: Report of Six Polish Patients, Novel Variant, and Literature Review of Reported Cases.

Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the gene. The aim of our study was to present the clinical, pathological and molecular report of six patients (from three unrelated families) with biallelic pathogenic variants. A detailed overview of the reported patients with -related disease was provided.

Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights.

Adenosine kinase (ADK) deficiency is a rare inborn error of methionine and adenosine metabolism. So far, a total of 27 patients with ADK deficiency have been reported. Here, we describe the first Polish patient diagnosed with ADK deficiency, aiming to highlight the clinical presentation of disease, emphasize diagnostic difficulties, and report the long-term follow-up.

Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review.

Wilson disease (WD) is a liver disorder characterized by improper copper metabolism. Although non-invasive tools are currently used to support diagnosis and management, this is still an area of unmet need, as patients present with a wide range of symptoms. Our aim was to investigate the potential utility of multiparametric magnetic resonance imaging (mpMRI) and quantitative magnetic resonance cholangiopancreatography (MRCP+) to support patient management.

Pharmacokinetics, Safety, and Efficacy of Gadopiclenol in Pediatric Patients Aged 2 to 17 Years.

Objectives: The aim of this study was to evaluate the pharmacokinetic (PK) profile, safety, and efficacy of gadopiclenol, a new high-relaxivity gadolinium-based contrast agent, in children aged 2 to 17 years.

Materials And Methods: Children scheduled to undergo contrast-enhanced magnetic resonance imaging of the central nervous system (CNS cohort) or other organs (body cohort) were included sequentially into 3 age groups (12-17, 7-11, and 2-6 years). Gadopiclenol was administered at the dose of 0.

Left and Right Ventricular Morphology, Function and Myocardial Deformation in Children with Left Ventricular Non-Compaction Cardiomyopathy: A Case-Control Cardiovascular Magnetic Resonance Study.

: Left ventricular non-compaction (LVNC) is a rare cardiomyopathy typically involving the left ventricle (LV); however, the right ventricle (RV) can also be affected. This case-control study aimed to assess the morphology and function of LV and RV in children with LVNC. : Sixteen children (13 ± 3 years, six girls) with LVNC were compared with 16 sex- and age-matched controls.

Isolated systolic hypertension is associated with increased left ventricular mass index and aortic stiffness in adolescents: a cardiac magnetic resonance study.

Objectives: Despite the high prevalence of isolated systolic hypertension (ISH) among hypertensive adolescents, its clinical significance is not determined. In addition, it is hypothesized that ISH with normal central blood pressure (BP) in young patients is a benign phenomenon and was hence labeled spurious hypertension (sHTN).

Methods: Using cardiac magnetic resonance we evaluated a group of 73 patients with suspected primary hypertension, aged 13-17 years (median: 16.

Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex.

Background And Objectives: Multiple factors have been found to contribute to the high risk of epilepsy in infants with tuberous sclerosis complex (TSC), including evolution of EEG abnormalities, gene variant, and MRI characteristics. The aim of this prospective multicenter study was to identify early MRI biomarkers of epilepsy in infants with TSC aged <6 months and before seizure onset, and associate these MRI biomarkers with neurodevelopmental outcomes at 2 years of age. The study was part of the EPISTOP project.

Segmenting pediatric optic pathway gliomas from MRI using deep learning.

Optic pathway gliomas are low-grade neoplastic lesions that account for approximately 3-5% of brain tumors in children. Assessing tumor burden from magnetic resonance imaging (MRI) plays a central role in its efficient management, yet it is a challenging and human-dependent task due to the difficult and error-prone process of manual segmentation of such lesions, as they can easily manifest different location and appearance characteristics. In this paper, we tackle this issue and propose a fully-automatic and reproducible deep learning algorithm built upon the recent advances in the field which is capable of detecting and segmenting optical pathway gliomas from MRI.

Usefulness of Colon Assessment by Magnetic Resonance Enterography in Pediatric Patients with Inflammatory Bowel Disease-Retrospective Case Series.

Background: Magnetic resonance enterography (MRE) is an excellent way to study the small bowels. During such an examination, the colon is also seen within the field of study. The aim of this study was to evaluate the effectiveness of MRE in detecting characteristics of active inflammatory bowel disease (IBD) in the colon, in comparison to different features seen in colonoscopies.

Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.

Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in gene. The clinical picture includes symptoms of subacute encephalopathy (e.g.

Single Nucleotide Polymorphisms of Interleukins and Toll-like Receptors and Neuroimaging Results in Newborns with Congenital HCMV Infection.

Congenital cytomegalovirus infection (cCMV) is the most common intrauterine infection with central nervous system (CNS) involvement. There is limited data on the associations between Single Nucleotide Polymorphisms (SNPs) in genes involving the first-line defense mechanism and the risk of CNS damage during cCMV. We investigated the associations between neuroimaging findings and SNPs in genes encoding the following cytokines and cytokine receptors in 92 infants with cCMV: interleukins (IL1B rs16944, IL12B rs3212227, IL28B rs12979860), C-C motif chemokine ligand 2 (CCL2 rs1024611), dendritic cell-specific intercellular adhesion grabbing non-integrin (DC-SIGN rs735240), Toll-like receptors (TLR2 rs5743708, TLR4 rs4986791, TLR9 rs352140).

Implementation of Computed Tomography Angiography (CTA) and Computed Tomography Perfusion (CTP) in Polish Guidelines for Determination of Cerebral Circulatory Arrest (CCA) during Brain Death/Death by Neurological Criteria (BD/DNC) Diagnosis Procedure.

Background: Brain death/death by neurologic criteria (BD/DNC) guidelines are routinely analyzed, compared and updated in the majority of countries and are later implemented as national criteria. At the same time, extensive works have been conducted in order to unify clinical procedures and to validate and implement new technologies into a panel of ancillary tests. Recently evaluated computed tomography angiography and computed tomography perfusion (CTA/CTP) seem to be superior to traditionally used digital subtraction angiography (DSA), transcranial Doppler (TCD) and cerebral perfusion scintigraphy for diagnosis of cerebral circulatory arrest (CCA).

Vigabatrin - new data on indications and safety in paediatric epilepsy.

Introduction: Vigabatrin (VGB), a second-generation antiepileptic drug, is effective for the treatment of infantile spasms and focal seizures, primarily in tuberous sclerosis complex (TSC) patients. However, reports of adverse events of VGB, including VGB-associated visual field loss and brain abnormalities in neuroimaging, have raised concerns about the broader use of VGB and thus significantly limited its application.

Aim Of The Study: The goal of this review was to summarise the recent therapeutic guidelines, the use of VGB in focal seizures and new VGB applications as a disease-modifying treatment in TSC patients.

NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.

Biallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene were firstly (2015) identified as a cause of fever-triggered recurrent acute liver failure (RALF). Since then, some patients with NBAS deficiency presenting with neurologic features, including a motor delay, intellectual disability, muscular hypotonia and a mild brain atrophy, have been reported. Here, we describe a case of pediatric patient diagnosed with NBAS deficiency due to a homozygous c.

Risk analysis of leachables in cell and gene therapy using a CAR-T model process.

With the rapidly emerging field of autologous therapies, Single-Use (SU) technologies are increasingly used in personalized medicine due to their manifold advantages. Although qualification of the starting material of autologous therapies such as the CAR-T process has been highlighted, little attention has been paid to the effect of leachables on cell-based therapies, even if recent studies indicate interactions of leachables with cells. To close this gap, this study presents a risk-analysis of SU-material on a CAR-T process and identifies hazards imposed by tubing materials and leachables thereof.

Brain Tissue Low-Level Mosaicism for Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.

De novo somatic variants in genes encoding components of the PI3K-AKT3-mTOR pathway, including , have been linked to hemimegalencephaly or focal cortical dysplasia. Similarly to other malformations of cortical development, this condition presents with developmental delay and intractable epilepsy, often necessitating surgical treatment. We describe a first patient with the Smith-Kingsmore syndrome phenotype with recurrent hypoglycemia caused by low-level mosaic mutation restricted to the brain.

Quantitative multiparametric MRI as a non-invasive stratification tool in children and adolescents with autoimmune liver disease.

Autoimmune hepatitis (AIH) and autoimmune sclerosing cholangitis (ASC) are two very closely related autoimmune liver diseases with overlapping clinical features and similar management strategies. The purpose of this study was to assess the utility of quantitative imaging markers to distinguish ASC from AIH in paediatrics. 66 participants (N = 52 AIH, N = 14 ASC) aged 14.

Invitation to participate in a multi-center study for validation of cerebral computed tomography angiography and computed tomography perfusion in the determination of cerebral circulatory arrest during brain death/death by neurological criteria diagnosis procedure in paediatric population below 12 years of age.

We would like to invite paediatric intensive care units (PICU) to join our multi-center trial concerning patient population < 12 y/o and aiming at: • validation of computed tomography angiography (CTA)/computed tomography perfusion (CTP) tests for brain death/death by neurological criteria (BD/DNC) diagnosis procedures, • validation of duplex Doppler insonation of extracranial segments of the internal cerebral arteries and the vertebral arteries for choosing an optimal time for CTA/CTP testing.

Magnetic Resonance Characteristics of Baló Concentric Sclerosis in Children.

Background: Baló concentric sclerosis is a rare demyelinating disease with characteristic magnetic resonance appearance of multilayered ringlike lesions of demyelination. This disease is extremely rare in children. We present the clinical data, radiological appearance, and development of lesions in eight children.