Diagnostics and treatment of differentiated thyroid carcinoma in children - Guidelines of the Polish National Scientific Societies, 2024 Update.

The rapid progress made in recent years in thyroid cancer research has necessitated the systematic updating of current clinical recommendations. This update presents the evidence-based management of differentiated thyroid carcinoma (DTC) and medullary thyroid carcinoma in children, including preoperative diagnostics, surgical management, radioiodine therapy in DTC treatment with L-thyroxine, disease monitoring, treatment of advanced disease, and finally, consequences of thyroid cancer treatment. Each recommendation is evaluated regarding its strength (Strength of Recommendation; SoR) and the quality of supporting data (QoE - Quality of Evidence).

Ocrelizumab dose selection for treatment of pediatric relapsing-remitting multiple sclerosis: results of the OPERETTA I study.

Background: The presented study identified the appropriate ocrelizumab dosing regimen for patients with pediatric-onset multiple sclerosis (POMS).

Methods: Patients with POMS aged 10-17 years were enrolled into cohort 1 (body weight [BW] < 40 kg, ocrelizumab 300 mg) and cohort 2 (BW ≥ 40 kg, ocrelizumab 600 mg) during a 24-week dose-exploration period (DEP), followed by an optional ocrelizumab (given every 24 weeks) extension period.

Primary Endpoints: pharmacokinetics, pharmacodynamics (CD19 B-cell count); secondary endpoint: safety; exploratory endpoints: MRI activity, protocol-defined relapses, Expanded Disability Status Scale (EDSS) score change.

Inflammatory bowel diseases during the COVID-19 pandemic.

Since the beginning of the COVID-19 pandemic in 2020, the safety of those with compromised immune systems and chronic disease has been of particular concern for health care providers. Inflammatory bowel diseases (IBD) are chronic, incurable conditions of digestive system with unknown aetiology, but one of the causes is disordered immune response. Medical therapies most frequently used in IBD are immune suppressing or modifying with the rising use of biologic treatment.

Efficacy and Safety of a Mixture of Microencapsulated Sodium Butyrate, Probiotics, and Short Chain Fructooligosaccharides in Patients with Irritable Bowel Syndrome-A Randomized, Double-Blind, Placebo-Controlled Study.

Biotics are increasingly being used in the treatment of irritable bowel syndrome (IBS). This study aimed to assess the efficacy and safety of a mixture of microencapsulated sodium butyrate, probiotics ( DSM 26357, DSM 32418, DSM 32946, DSM 32403, and DSM 32269), and short-chain fructooligosaccharides (scFOSs) in IBS patients. This was a randomized, double-blind, placebo-controlled trial involving 120 adult participants with IBS.

Tamuzimod in patients with moderately-to-severely active ulcerative colitis: a multicentre, double-blind, randomised, placebo-controlled, phase 2 induction trial.

Background: Tamuzimod (VTX002) is a selective sphingosine 1-phosphate receptor 1 modulator in development for ulcerative colitis. We aimed to assess the safety and efficacy of tamuzimod in patients with moderately-to-severely active ulcerative colitis.

Methods: This double-blind, randomised, placebo-controlled, phase 2 induction trial was conducted at 122 centres across 15 countries in Asia, Europe, and North America.

IgE-based analysis of sensitization and cross-reactivity to yellow mealworm and edible insect allergens before their widespread dietary introduction.

The European Commission authorized the use of dried yellow mealworm (Tenebrio molitor - TM) as a food ingredient under Regulation EU 2021/882. As TM emerges as an important allergen source, sensitization and allergy to TM in various populations need investigation. The aim of this study was to assess the incidence of sensitization to TM before its introduction as a food ingredient in Poland, as well as checking the occurrence of co-sensitivity to TM and other invertebrate allergenic extracts and molecules.

Complementarity of biomarker screening and genetic analyses based on the case of an attenuated multiple sulfatase deficiency.

Multiple sulfatase deficiency (MSD) is an ultra-rare lysosomal disease caused by defective activation of cellular sulfatases comprising clinical features of mucopolysaccharidoses, sphingolipidoses, and other sulfatase deficiencies. We present a case of an infant with feeding difficulties related to autism spectrum disorder (ASD) who was diagnosed at 10 months of age with MSD by next-generation sequencing (NGS). Biochemical results obtained in dried blood spot (DBS) samples were inconsistent and not suggesting MSD in the light of identified pathogenic SUMF1 variants.

Meningeal melanocytoma of the central nervous system in children.

Purpose: This study aimed to summarize the existing English-language literature on central nervous system (CNS) meningeal melanocytomas in children, and additionally describe our institutional case report.

Methods: PubMed database was screened on September 2, 2024, for English-language papers reporting on pediatric patients with CNS meningeal melanocytoma.

Results: A total of 17 papers reporting on 18 patients with 19 CNS meningeal melanocytomas were found in the literature.

COVID-19 and the impact of vaccination on the disease morbidity of Polish paediatric patients with inflammatory bowel disease.

Aim: We evaluated the frequency and severity of COVID-19, and vaccination status, in children with different forms of inflammatory bowel disease (IBD).

Methods: This was a prospective, observational cohort study that used a questionnaire to gather data on the patients' vaccination doses, medication and disease activity. Disease flare was defined as worsening IBD symptoms and changes in medication.

ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip.

Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).

Adrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency.

In adrenal steroidogenesis, 17-hydroxyprogesterone (17-OHP) is a substrate for 21-hydroxylase, one of the crucial enzymes of the cortisol and aldosterone biosynthesis pathway. Thus, measurement serum 17-OHP concentration is used when the diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is suspected. In the classic 21-hydroxylase deficiency, randomly timed measurements of 17-OHP are generally significantly elevated using different immunoassays.

Upadacitinib for Induction of Remission in Pediatric Ulcerative Colitis: An International Multi‑center Study.

Background And Aims: Data on upadacitinib therapy in children with ulcerative colitis (UC) or unclassified inflammatory bowel disease (IBD-U) are scarce. We aimed to evaluate the effectiveness and safety of upadacitinib as an induction therapy in pediatric UC or IBD-U.

Methods: In this multicenter retrospective study, children treated with upadacitinib for induction of remission of active UC or IBD-U from 30 centers worldwide were enrolled.

Effects of Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers.

Gaucher disease (GD) is a lysosomal lipid storage disorder caused by β-glucocerebrosidase (encoded by gene) activity deficiency, resulting in the accumulation of glucosylceramide (Gb1) and its deacylated metabolite glucosylsphingosine (lyso-Gb1). Lyso-Gb1 has been studied previously and proved to be a sensitive biomarker, distinguishing patients with GD from carriers and healthy subjects. It was shown that its level corresponds with β-glucocerebrosidase activity, thus it remains unknown as to why carriers have slightly higher lyso-Gb1 level than healthy population.

Efficacy and safety of mirikizumab in patients with moderately-to-severely active Crohn's disease: a phase 3, multicentre, randomised, double-blind, placebo-controlled and active-controlled, treat-through study.

Background: Mirikizumab, a humanised monoclonal antibody that inhibits IL-23p19, is effective in moderate-to-severe ulcerative colitis. We aimed to evaluate the efficacy and safety of mirikizumab in patients with moderately-to-severely active Crohn's disease.

Methods: VIVID-1 was a global phase 3, randomised, double-blind, double-dummy, placebo-controlled and active-controlled, treat-through study.

Age-Related Differences in Rejection Rates, Infections, and Tacrolimus Exposure in Pediatric Kidney Transplant Recipients in the CERTAIN Registry.

Introduction: Data on age-related differences in rejection rates, infectious episodes, and tacrolimus exposure in pediatric kidney transplant recipients (pKTRs) on a tacrolimus-based immunosuppressive regimen are scarce.

Methods: We performed a large-scale analysis of 802 pKTRs from the Cooperative European Paediatric Renal Transplant Initiative (CERTAIN) registry from 40 centers in 14 countries. The inclusion criteria were a tacrolimus-based immunosuppressive regimen and at least 2 years of follow-up.

Changing Epidemiology and Outcomes of Hemolytic Uremic Syndrome in Children: A Prospective National Cohort Study from the Polish Pediatric HUS Registry and the Polish Registry of Renal Replacement Therapy in Children.

: Hemolytic uremic syndrome (HUS) is a known cause of acute kidney injury in children, but there are few recent reports on its epidemiology and outcome. We aimed to investigate trends in the incidence and the long-term outcomes of both Shiga toxin-producing -HUS (STEC-HUS) and atypical HUS (aHUS) in Poland over the last 12 years (2012-2023), based on the Polish Pediatric HUS and Pediatric Renal Replacement Therapy (RRT) Registries. : A total of 436 patients (301 with STEC-HUS and 135 with aHUS) were included.

HyperChildNET COST Action CA19115: report of the task force.

Despite dramatic medical advances over the last few decades, cardiovascular disease remains a leading cause of death globally. High BP is clearly established, but modifiable, risk factor for early disability and death. Although most of the adverse outcomes occur in adulthood it has become clear that high BP is a life course problem that can become evident in early life however, relatively little attention has been paid to the problem of high BP in children and adolescents.

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.

CIC/ATXN1-rearranged tumors in the central nervous system are mainly represented by sarcomas: A comprehensive clinicopathological and epigenetic series.

CIC fusions have been described in two different central nervous system (CNS) tumor entities. On one hand, fusions of CIC or ATXN1 genes belonging to the same complex of transcriptional repressors, were reported in the CIC-rearranged, sarcoma (SARC-CIC). The diagnosis of this tumor type, which was recently added to the World Health Organization (WHO) Classification of CNS tumors, is difficult mainly because the data concerning its histopathology (as compared to its soft tissue counterpart), immunoprofile, and clinical as well as radiological characteristics are scarce in the literature.

Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update.

Background: Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive lysosomal storage disease (LSD) associated with biallelic pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene.

Objectives: The aim of this study was to provide the 2024 update on chronic visceral and neurovisceral ASMD diagnosed in the infancy/childhood in Polish patients.

Material And Methods: All the patients diagnosed in the pediatric age (0-18 years) with ASMD, both chronic neurovisceral and visceral type, and then systematically followed up, were enrolled into the study.

The Effect of LPC100 and LP140 on Bone Mineral Density in Postmenopausal Women: A Multicenter, Randomized, Placebo-Controlled Study.

modulation of gut microbiota by probiotics has been proposed as a target for intervention to reduce bone mineral density (BMD) loss in the postmenopausal period. This study aims to evaluate the effect of (L.) LPC100 and (L.

Personalization of pharmacotherapy with sirolimus based on volumetric absorptive microsampling (VAMS) in pediatric renal transplant recipients-from LC-MS/MS method validation to clinical application.

Background: The benefits of pharmacotherapy with sirolimus (SIR) in pediatric transplant recipients are well established. Traditionally, whole blood samples have been used to measure SIR concentrations. Volumetric Absorptive Microsampling (VAMS) is an alternative sampling strategy suitable for Therapeutic Drug Monitoring (TDM).

polymorphisms are associated with susceptibility to Kawasaki disease but do not predict intravenous immunoglobulin resistance and coronary artery aneurysms.

Introduction: Kawasaki disease (KD) is a pediatric vasculitis that can result in coronary artery aneurysm (CAA) formation, which is a dangerous complication. Treatment with intravenous immunoglobulin (IVIg) significantly decreases the risk of CAA, possibly through competitive binding to Fc-gamma receptors (FcRs), which reduces the binding of pathological immune complexes. However, ~20% of children have recrudescence of fever and have an increased risk of CAA.