Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate.

Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS). There is a scarcity of literature concerning the process of growth in children with Mucopolysaccharidosis type I (MPS I) and Mucopolysaccharidosis type I (MPS II) after HSCT. The aim of this manuscript was to evaluate the therapeutic effect of HSCT on the heights of patients with MPS I and MPS II.

Comparison of four aortic bioprostheses: Hancock II St Jude Trifecta Carpentier-Edwards Perimount Magna Magna Ease-mid-term results (COMPARE SAVR study).

Background: In the era of percutaneous aortic valve implantation, biological valves are the preferred prostheses implanted in patients undergoing surgical aortic valve replacement (sAVR). The aim was to present a real-life analysis of mid-term sAVR outcomes for the four aortic bioprostheses: the Hancock II, the Carpentier-Edwards Perimount Magna, the Carpentier-Edwards Perimount Magna Ease and the Trifecta valve.

Methods: This is a retrospective study based on data from the Polish National Cardiac Surgery Database.

Clinical Insights and Potential Benefits of Stem Cell Transplantation for Constitutional Mismatch Repair Deficiency: A Case Report of Two Siblings.

Constitutional mismatch repair deficiency (CMMRD) syndrome, caused by biallelic mutations in mismatch repair genes, is one of the most aggressive hereditary cancer syndromes. This report presents the clinical course of two brothers diagnosed with CMMRD. The first patient was diagnosed with T-cell lymphoma at the age of three and a half years, a relapse, and synchronous glioblastoma at the age of seven and a half years.

Functional impairments in NBIA patients: Preliminary results.

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group (genetically and phenotypically) of genetically determined disorders. Up to date there is no cure for this disease, so the applied treatments focus on symptoms control and palliative care. The main problems are delayed motor development, gait deterioration, postural instability, cognitive dysfunctions, abnormal muscle tone and many others.

Polymorphism rs3197999 in Pediatric Patients with Inflammatory Bowel Disease.

Inflammatory bowel disease (IBD), which includes Crohn's disease (CD) and ulcerative colitis (UC), often necessitates long-term treatment and hospitalizations and also may require surgery. The ( rs3197999 polymorphism is strongly associated with the risk of IBD but its exact clinical correlates remain under investigation. We aimed to characterize the relationships between the rs3197999 genotype and the clinical characteristics in children and adolescents with IBD within a multi-center cross-sectional study.

Assessment of Dried Serum Spots (DSS) and Volumetric-Absorptive Microsampling (VAMS) Techniques in Therapeutic Drug Monitoring of (Val)Ganciclovir-Comparative Study in Analytical and Clinical Practice.

Ganciclovir (GCV) and its prodrug valganciclovir (VGCV) are antiviral medications primarily used to treat infections caused by cytomegalovirus (CMV), particularly in immunocompromised individuals such as solid organ transplant (SOT) recipients. Therapy with GCV is associated with significant side effects, including bone marrow suppression. Therefore, therapeutic drug monitoring (TDM) is mandatory for an appropriate balance between subtherapeutic and toxic drug levels.

Genetic hallmarks and clinical implications of chromothripsis in childhood T-cell acute lymphoblastic leukemia.

Chromothripsis (cth) is a form of genomic instability leading to massive de novo structural chromosome rearrangements in a one-time catastrophic event. It can cause cancer-promoting alterations, such as loss of sequences for tumor-suppressor genes, formation of oncogenic fusions, and oncogene amplifications. We investigated the genetic background and clinical significance of cth in childhood T-cell acute lymphoblastic leukemia (T-ALL) patients.

Classical autoimmune hepatitis and the IgG4-associated autoimmune hepatitis in paediatric patients.

The IgG4-associated autoimmune hepatitis (IgG4-AIH) is a newly proposed disease entity characterised by the accumulation of the IgG4-expressing plasma cells in the liver. Its pathophysiology and clinical significance remain unclear and have poor evidence in the paediatric population. Thus, our study aims at comparing the group of paediatric patients with classical AIH and the IgG4-AIH.

Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Background: Ataxia telangiectasia is a multisystem disorder with progressive neurodegeneration. Corticosteroids can improve neurological functioning in patients with the disorder but adrenal suppression and symptom recurrence on treatment discontinuation has limited their use, prompting the development of novel steroid delivery systems. The aim of the ATTeST study was to evaluate the efficacy and safety of intra-erythrocyte delivery of dexamethasone sodium phosphate compared with placebo in children with ataxia telangiectasia.

Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.

Background: Agammaglobulinemia due to variants in IGLL1 has traditionally been considered an exceedingly rare form of severe B-cell deficiency, with only 8 documented cases in the literature. Surprisingly, the first agammaglobulinemic patient identified by newborn screening (NBS) through quantification of kappa-deleting recombination excision circles harbored variants in IGLL1.

Objective: We comprehensively reviewed clinical and immunologic findings of patients with B-cell deficiency attributed to variants in IGLL1.

Daily and Weekly "High Doses" of Cholecalciferol for the Prevention and Treatment of Vitamin D Deficiency for Obese or Multi-Morbidity and Multi-Treatment Patients Requiring Multi-Drugs-A Narrative Review.

Daily vitamin D supplementation using higher than normal dosing (up to the upper limit value) and intermittent (once or twice per week) dosing were studied in patients with increased risk of vitamin D deficiency. Using a PubMed database, a thorough search for published randomized controlled trials and other studies was conducted, and the results were analyzed. This review provides an overview of the use of 7000 IU daily, 30,000 IU per week or twice weekly, and 50,000 IU weekly of vitamin D for obtaining and maintaining 25(OH)D concentrations of at least 30 ng/mL in patients at high risk of vitamin D deficiency.

Identification and validation of miRNA-target genes network in pediatric brain tumors.

Alterations in miRNA levels have been observed in various types of cancer, impacting numerous cellular processes and increasing their potential usefulness in combination therapies also in brain tumors. Recent advances in understanding the genetics and epigenetics of brain tumours point to new aberrations and associations, making it essential to continually update knowledge and classification. Here we conducted molecular analysis of 123 samples of childhood brain tumors (pilocytic astrocytoma, medulloblastoma, ependymoma), focusing on identification of genes that could potentially be regulated by crucial representatives of OncomiR-1: miR-17-5p and miR-20a-5p.

Impact of a Fruit-Vegetable Preparation Fortified with Potato Starch Resistant Dextrin on Selected Health Indicators in Overweight Children.

Developing modified dietary fibers that maintain prebiotic benefits without significantly affecting meal taste is of high importance in the midst of the obesity pandemic. These benefits include regulating the composition of gut microbiota, increasing feelings of fullness, and improving human metabolic parameters. This study investigated the use of a resistant dextrin (RD) derived from potato starch, which possesses prebiotic properties, as a potential additive in vegetable-fruit preparations that aid weight loss and improve health markers in overweight children.

Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.

: Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the gene, leading to β-glucocerebrosidase deficiency and glucosylceramide accumulation. : We analyzed short- and long-term dynamics of lyso-glucosylceramide (lyso-Gb1) in a large cohort of GD patients undergoing enzyme replacement therapy (ERT). : Eight-years analysis of lyso-Gb1 revealed statistically insignificant variability in the biomarker across the years and relatively high individual variability in patients' results.

Validation of Polish-Language Questionnaires for Assessing the Quality of Life of Patients with Primary Ciliary Dyskinesia (PCD-QOL).

In recent years, questionnaires were published in English to assess the quality of life of patients with PCD (Primary Ciliary Diskinesia) for adults, adolescents aged 13-17 years, and children aged 6-12 years and their caregivers. This study aimed to prepare Polish versions of the questionnaires and validate them in specific age groups with the participation of Polish patients with PCD. The individual questionnaires were translated and discussed with the involvement of the creator of the original questionnaire in English.

Changes in the cardiovascular risk profile in children approaching kidney replacement therapy.

Background: Despite significant cardiovascular (CV) morbidity in children on dialysis and after kidney transplantation, data on the evolution of CV damage in children with chronic kidney disease (CKD) approaching kidney replacement therapy (KRT) is unknown.

Methods: The burden, progression, and predictors of CV damage before KRT onset were explored in two prospective multicenter cohorts from Europe and Canada: Cardiovascular Comorbidity in Children with CKD (4C) and Haemodiafiltration, Heart and Height (3H) studies, conducted from 2009-19 and 2013-16, respectively. CV damage and risk factors were evaluated (i) cross sectionally at KRT-start (n = 248), and (ii) longitudinally over the 2-years preceding KRT start (n = 157; 331 patient-visits).

Adrenal cortical carcinoma: Paediatric aspects - literature review.

Introduction: Adrenocortical carcinoma (ACC) is a rare malignancy in children. Because of this, each patient with suspected ACC requires individualised management, which should be determined at a meeting of a team of multidisciplinary experts in the field.

Aim Of The Study: To summarise data on symptoms, genetic predisposition, and diagnostic procedures for ACC in children.

A novel approach to therapeutic drug monitoring of Ciclosporin in pediatric renal transplant recipients using volumetric absorptive microsampling (VAMS) - Teaching old dog new tricks.

Background And Aims: Ciclosporin (CSA) is an immunosuppressive agent that requires therapeutic drug monitoring (TDM). High partitioning in erythrocytes indicates that whole blood (WB) is a suitable matrix for CSA determination. Alternative sampling strategies, such as volumetric absorptive microsampling (VAMS), are novel possibilities for blood collection during TDM for various analytes, including immunosuppressants.

Does body weight below 6 kg modify survival of infants after liver transplant? Complete National Transplant Registry Data.

Objective: To determine the impact of infant recipient body weight at primary liver transplantation (LT) on both recipient and graft survival rates in complete national data from Poland.

Methods: We conducted a single-center, retrospective cohort study including 142 LT recipients below 1 year of age with body weights below 10 kg who received primary and isolated LT between 2001 and 2017. Patients were divided into two study groups according to body weight at the time of LT: (1) Group I (≤6.

Modified by the Innovative Drugs and Strategies-Pattern of Selected Indications for Pediatric Liver Transplantation.

Background: Liver transplantation (LTx) constitutes a major life-saving routine treatment for children with end-stage liver disease. However, the analysis of LTx registries in children provides much information about changes in the indication profiles in the recent years.

Methods: The article provides a comprehensive review about the successes, hopes, and challenges related to changing indications for LTx in children based on the literature review and our own experience.

Should we routinely assess hypothalamic-pituitary-adrenal axis in pediatric patients with Prader-Willi syndrome?

Background: It has been reported that central adrenal insufficiency (CAI) in pediatric patients (pts) with Prader-Willi syndrome (PWS) may be a potential cause of their sudden death. In addition, the risk of CAI may increase during treatment with recombinant human growth hormone (rhGH).

Objective: To prevent both over- and undertreatment with hydrocortisone, we evaluated the prevalence of CAI in a large multicenter cohort of pediatric pts with PWS analyzing adrenal response in the low-dose ACTH test (LDAT) and/or the glucagon stimulation test (GST) and reviewing the literature.