Vitamin D: Evidence-Based Health Benefits and Recommendations for Population Guidelines.

Vitamin D offers numerous under-recognized health benefits beyond its well-known role in musculoskeletal health. It is vital for extra-renal tissues, prenatal health, brain function, immunity, pregnancy, cancer prevention, and cardiovascular health. Existing guidelines issued by governmental and health organizations are bone-centric and largely overlook the abovementioned extra-skeletal benefits and optimal thresholds for vitamin D.

Are Trace Elements Provided for Children on Long-Term Parenteral Nutrition Adequate to Meet Their Needs?

: We conducted a cross-sectional study to investigate whether children receiving long-term parenteral nutrition (LPN) are at risk of imbalances in selected trace elements. : Serum levels of manganese, zinc, copper, selenium, and iodine were measured in 83 children on LPN and compared with 121 healthy controls. Children with signs of infection or elevated C-reactive protein levels were excluded.

Neovascular Glaucoma as the First Symptom of Bilateral Occlusive Retinal Vasculitis in a 4-Year-Old Girl: A Case Report.

Neovascular glaucoma is a rare and serious condition typically associated with advanced ocular or systemic vascular diseases such as central retinal vein occlusion or diabetic retinopathy. This report describes a unique case of neovascular glaucoma presenting for the first time as an initial symptom of bilateral occlusive retinal vasculitis (ORV) in a generally healthy 4-year-old girl. The patient presented with symptoms of pain and redness in the left eye, accompanied by high intraocular pressure.

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).

Complete genome sequence of subsp. BI040, a probiotic strain with multiple health benefits from the NORDBIOTIC collection.

The complete genome of subsp. BI040-a human stool isolate, was sequenced using Illumina and Oxford Nanopore technologies. The BI040 genome is composed of a circular 1,944,141-bp chromosome which carries genes potentially involved in vitamin synthesis and gut health.

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.

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients. A multicenter study by EBMT IEWP.

JAGN1 (Jagunal-homolog1) is a ER-resident transmembrane protein which is part of the early secretory pathway and granulocyte colony-stimulating factor receptor mediated signaling. Autosomal recessively inherited variants in the JAGN1 gene lead to congenital neutropenia, early-onset bacterial infections, aphthosis and skin abscesses due to aberrant differentiation and maturation of neutrophils. In addition, bone metabolism disorders and a syndromic phenotype, including facial features, short stature and neurodevelopmental delay, have been reported in affected patients.

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).

Does the Coronary Artery Bypass Grafting Impact the Survival of Men and Women Equally Compared to General Population? Results from KROK Registry and Polish Central Statistical Office.

The aim of this study was to evaluate the impact of coronary bypass surgery (CABG) on long-term mortality, comparing survival rates to those of the general population in Poland. The study was based on the Polish National Register of Cardiothoracic Surgical Procedures (KROK). Between January 2009 and December 2019, 133,973 patients underwent CABG.

Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex.

Objective: Previous retrospective studies have reported vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM), although clinical impact is unknown. We evaluated the association between vigabatrin and predefined brain magnetic resonance imaging (MRI) changes in a large homogenous tuberous sclerosis complex (TSC) cohort and assessed to what extent VABAM-related symptoms were reported in TSC infants.

Methods: The Dutch TSC Registry and the EPISTOP cohort provided retrospective and prospective data from 80 TSC patients treated with vigabatrin (VGB) before the age of 2 years and 23 TSC patients without VGB.

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.

Performance of EuroSCORE II in Octogenarians Undergoing Coronary Artery Surgery (from the KROK Registry).

Octogenarians constitute the fastest-growing segment within contemporary cardiac surgery, yet precise risk assessment in this age group remains challenging. This study aimed to evaluate EuroSCORE II reliability in octogenarians undergoing isolated coronary surgery and to create an adjustment formula if necessary. All octogenarians who had isolated coronary surgery in Poland from January 2012 to December 2023, recorded in the Polish National Registry of Cardiac Surgical Procedures (KROK registry), were retrospectively assessed.

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.

Complete genome sequence of LU150, a potential vitamin B producer from the NORDBIOTIC collection.

We performed whole-genome sequencing of LU150, a human fecal isolate from the NORDBIOTIC collection. The genome consists of 2,039,406 bp with a GC content of 38.9%.