Pediatric brain tumor patients display altered immune activation and reduced lymphopoiesis at the onset of disease.

Optimal immune function is crucial in preventing cancer development and growth and for the success of anti-cancer therapies. Here, we characterized the peripheral immunological status of 83 steroids-naïve pediatric patients with central nervous system neoplasia at the disease onset. Tumors were classified into low-grade gliomas (LGG), high-grade gliomas (HGG), medulloblastoma, and other tumors.

Impact of treosulfan exposure on clinical outcome after allogeneic stem cell transplantation in children: A substudy of 2 phase 2 trials.

Aims: Allogeneic haematopoietic stem cell transplantation (allo-HSCT) is a vital treatment for various paediatric malignant and nonmalignant diseases. The conditioning treatment before allo-HSCT is crucial for successful engraftment. Treosulfan, a cytotoxic prodrug, has gained popularity due to its lower toxicity compared to traditional alkylating agents used for conditioning treatment.

Retrospective analysis of a tertiary care centre of sex differences in risk factors, aetiology and short-term clinical outcome after revascularization treatment in young adults' ischemic stroke.

Background And Objectives: The incidence of ischemic stroke in young adults has increased substantially. There are limited data in the literature concerning the short-term clinical outcome in young adults with acute stroke after revascularization treatment. Due to the lack of available data on gender differences short-term clinical outcome, we designed the present study.

Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.

Most autoinflammatory diseases are caused by mutations in innate immunity genes. Previously, four variants in the RHO GTPase CDC42 were discovered in patients affected by syndromes generally characterized by neonatal-onset of cytopenia and auto-inflammation, including hemophagocytic lymphohistiocytosis and rash in the most severe form (NOCARH syndrome). However, the mechanisms responsible for these phenotypes remain largely elusive.

Cystinosis metabolic bone disease: inflammatory profile in human peripheral blood mononuclear cells and derived osteoclasts.

Unlabelled: Cystinosis metabolic bone disease (CMBD) is an emerging concept in infantile nephropathic cystinosis, patients presenting with bone pains, fractures, and deformations during teenage or early adulthood. The underlying mechanisms remain unclear. Our aim was to explore the pro-inflammatory profile of osteoclastic lineage in cystinotic patients.

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.

Euterpe music therapy methodology and procedure algorithms.

Introduction: As highlighted by the scientific literature, music therapy (MT) represents a significant non-pharmacological intervention within neurorehabilitation programs. MT offers benefits in the recovery process and enhances the quality of life for patients with neurodevelopmental disorders. A review of the literature reveals a lack of MT models focusing on real-time personalized composition using electronic music techniques.

Alice in Wonderland Syndrome in Children With Severe Acute Respiratory Syndrome SARS-CoV-2 Infection: A Case Series of Two Patients in an Italian Hospital.

Background: Alice in Wonderland syndrome (AIWS) is a disorienting neurological condition that affects human perception to the senses of vision, hearing, touch, and sensation and the phenomenon of time. Herein we report two pediatric cases of AIWS temporally related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection.

Case Presentation: An eight-year-old-girl without history of migraine or epilepsy experienced some episodes of visual distortions (micropsia, macropsia, and teleopsia) and misperception of sound, sometimes associated with headache.

Elexacaftor/tezacaftor/ivacaftor efficacy in intestinal organoids with rare CFTR variants in comparison to CFTR-F508del and CFTR-wild type controls.

Cystic fibrosis is a life-shortening genetic disease caused by pathological variants of the cystic fibrosis transmembrane conductance regulator gene. The CFTR modulator therapy elexacaftor, tezacaftor and ivacaftor (ETI) rescues CFTR protein function and has made a significant impact on the lives of many people with CF. In Europe, ETI is currently available for people with CF who have at least one F508del mutation whilst the effect of ETI on rare CFTR variants remains unknown, albeit that many of such variants may be restored through ETI.

Tele-support in breastfeeding: position statement of the Italian society of Neonatology.

Tele-support in breastfeeding can be defined as any support provided by a service that connects health workers and/or lactation consultants with breastfeeding parents through video visits, although a telephone contact with the breastfeeding mother remains the first method of remote breastfeeding support. The tele-support in breastfeeding has increased significantly during the SARS-CoV2 pandemic worldwide and, given its effectiveness, may be maintained also after the pandemic. The Italian Society of Neonatology on the basis of: 1) two focus group studies on the tele-support in breastfeeding conducted in Italy with 11 Neonatal Intensive Care Unit nurses and 10 neonatologists, respectively, 2) a national survey on tele-support in breastfeeding addressing the Italian Neonatal Intensive Care Units, and 3) a review of the available experiences and literature, has provided a Position Statement, limitedly to the individual tele-support in breastfeeding.

Myeloid-derived suppressor cells: Identification and function.

Myeloid-derived suppressor cells (MDSCs) are cells that play a regulatory role in immune responses and inflammation. They can have both positive and negative effects on various diseases, including cancer, infections, sepsis, and trauma. MDSCs inhibit immune cells by releasing immunosuppressive factors and can be categorized as monocytic (M) or polymorphonuclear (PMN) cell lineages.

Pharmacotherapeutic strategies for drug-resistant epilepsy in children.

Drug resistance is defined as the failure of adequate trials of two tolerated and appropriately chosen antiseizure medications to achieve sustained seizure freedom. In case of uncontrolled seizures, pseudo-drug-resistance (poor compliance, a worsening effect of an antiseizure medication, a diagnosis of psychogenic non-epileptic seizure) should be first ruled out in case of pediatric epilepsies. This paper discusses the process of choosing antiseizure medication and the concepts of rationale polytherapy and precision medicine.

Extracellular Histones Profiles of Pediatric H3K27-Altered Diffuse Midline Glioma.

Background: Diffuse midline glioma, H3 K27-altered (DMG) is a fatal tumour that arises in the midline structures of the brain. When located in the pons, it is more commonly referred to as diffuse intrinsic pontine glioma (DIPG). DMG/DIPG is usually diagnosed when children are < 10 years, and it has a median overall survival of < 12 months after diagnosis.

Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.

Huppke-Brendel syndrome (HBS) is an autosomal recessive disorder caused by mutations, a gene coding for the acetyl-CoA transporter-1 (AT-1). So far it has been described in nine pediatric and one adult patient. Therapeutic trials with copper histidinate failed to achieve any clinical improvement.