A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.

Background And Hypothesis: ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase and pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) with deafness. Heterozygous variants predicted to affect a specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has been unclear. We hypothesised that these variants are associated with a dominant disease mechanism.

IL-17 family members exert an autocrine pro-inflammatory loop in CF respiratory epithelial cells ex vivo.

Background: Lungs of people with Cystic Fibrosis (pwCF) are characterized by chronic inflammation and infection with P. aeruginosa. High levels of IL-17 A and F have been observed in sputum of pwCF and the interleukin-17(IL-17) family (A-to-F) has been suggested to play a key role in CF pulmonary disease.

Endoscopic retrograde cholangiopancreatography in children with pediatric congenital biliary dilatation associated with pancreatobiliary maljunction: experience from a tertiary center.

Background: Congenital biliary dilatation (CBD) is a congenital malformation of the main biliary tract usually associated with the pancreatobiliary maljunction (PBM), determining stone formation, cholangitis, pancreatitis, and cholangiocarcinoma. The role of endoscopic retrograde cholangiopancreatography (ERCP) in treatment and diagnosis has not been established yet. Therefore, the aim of our study is to define the actual role of ERCP in children with CBD.

Altered cytoskeleton dynamics in patient-derived iPSC-based model of PCDH19 clustering epilepsy.

Protocadherin 19 (PCDH19) is an adhesion molecule involved in cell-cell interaction whose mutations cause a drug-resistant form of epilepsy, named PCDH19-Clustering Epilepsy (PCDH19-CE, MIM 300088). The mechanism by which altered PCDH19 function drive pathogenesis is not yet fully understood. Our previous work showed that PCDH19 dysfunction is associated with altered orientation of the mitotic spindle and accelerated neurogenesis, suggesting a contribution of altered cytoskeleton organization in PCDH19-CE pathogenesis in the control of cell division and differentiation.

Impact of Platelet Transfusion at Different Doses in Oncohematology Pediatric Inpatients and Outpatients: A Retrospective Study.

Background: Platelet (PLT) transfusion is an essential strategy to prevent bleeding in children with thrombocytopenia associated to cancer treatment. However, data on optimal pediatric dosing and transfusion thresholds are limited.

Methods: This retrospective study analyzed data from 607 pediatric patients with hematologic malignancies, nonmalignant disorders, and solid tumors who developed hypoproliferative thrombocytopenia during therapy.

A new epidemic wave of Bordetella pertussis in paediatric population: impact and role of co-infections in pertussis disease.

Background: In recent months, Bordetella pertussis has reappeared after maintaining a low rate for many years. Although pertussis is usually characterized by a favorable course, several factors can contribute to the severity of the disease, such as mixed respiratory infections. In this study, we evaluate B.

Innate and SARS-CoV-2 specific adaptive immune response kinetic in neutralizing monoclonal antibody successfully treated COVID-19 patients.

The impact of anti-Spike monoclonal antibody (mAbs) treatment on the immune response of COVID19-patients is poorly explored. In particular, a comparison of the immunological influence of different therapeutic regimens has not yet been performed. Aim of the study was to compare the kinetic of innate and adaptive immune response as well as the SARS-CoV-2 specific humoral and T cell response in two groups of SARS-CoV-2-infected patients treated with two different mAbs regimens: Bamlanivimab/Etesevimab (BAM/ETE) or Casirivimab/Imdevimab (CAS/IMD).

Enhanced recovery after surgery for adolescent idiopathic scoliosis: a revised systematic review and meta‑analysis.

Purpose: Adolescent idiopathic scoliosis surgery (AIS) is often associated with high costs and significant recovery challenges. Enhanced recovery after surgery (ERAS) protocols aim to improve outcomes, reducing hospital stays and complications compared to traditional (TD) pathways. This study evaluates the impact of ERAS protocols on AIS treatment.

In vitro ILC differentiation from human HSCs.

The Innate Lymphoid Cells (ILCs) are a family of innate immune cells composed by the Natural Killer (NK) cells and the helper ILCs (hILCs) (ILC1, ILC2, ILC3), both developing from a common ILC precursor (ILCP) derived from hematopoietic stem cells (HSCs). A correct ILC reconstitution is crucial, particularly in patients receiving HSC transplantation (HSCT), the only therapeutic option for many adult and pediatric high-risk hematological malignancies. Indeed, mainly thanks to their cytotoxic activity, NK cells have a strong Graft-versus-Leukemia (GvL) effect.

Modified lung ultrasound score for improved monitoring of pARDS on ECMO, a case report.

Background: Lung ultrasound scoring is a validated tool for assessing lung pathology. However, existing scoring systems typically overlook the size of consolidations, limiting their accuracy in certain clinical scenarios.

Case Presentation: We describe the first application of adding the maximum consolidation depth in centimeters (cm) to the conventional score.

Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.

Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc.

Donor-derived GD2-specific CAR T cells in relapsed or refractory neuroblastoma.

Allogeneic chimeric antigen receptor (CAR) T cells targeting disialoganglioside-GD2 (ALLO_GD2-CART01) could be a therapeutic option for patients with relapsed or refractory, high-risk neuroblastoma (r/r HR-NB) whose tumors did not respond to autologous GD2-CART01 or who have profound lymphopenia. We present a case series of five children with HR-NB refractory to more than three different lines of therapy who received ALLO_GD2-CART01 in a hospital exemption setting. Four of them had previously received allogeneic hematopoietic stem cell transplantation.

Biomarkers in Ataxia-Telangiectasia: a Systematic Review.

Ataxia-Telangiectasia (A-T) is a very rare multisystem disease of DNA repair, associated with progressive disabling neurological symptoms, respiratory failure, immunodeficiency and cancer predisposition, leading to premature death. There are no curative treatments available for A-T but clinical trials have begun. A major limiting factor in effectively evaluating therapies for A-T is the lack of suitable outcome measures and biomarkers.

Cenobamate as add-on treatment for SCN8A developmental and epileptic encephalopathy.

Objectives: Developmental and epileptic encephalopathies (DEEs) caused by pathogenic variants in SCN8A are associated with difficult-to-treat and early-onset seizures, developmental delay/intellectual disability, impaired quality of life, and increased risk of early mortality. High doses of sodium channel blockers are typically used to treat SCN8A-DEE caused by gain-of-function (GoF) variants. However, seizures are often drug resistant, and only a few patients achieve seizure freedom.

Off-Label Use of Anakinra in Inflammatory Conditions in Neonates and Infants Up to 3 Months of Age: A Case Series and a Review of the Literature.

Background: Anakinra is an interleukin-1 receptor antagonist (IL-1Ra). Since IL-1 has been shown to play a key role in the etiology of different autoinflammatory diseases, blocking its pathway has become an important therapeutic target, even in neonates.

Aims: We aimed to report our experience in using anakinra to treat specific neonatal inflammatory conditions.

Predictive factors of health related quality of life in children and adolescents with celiac disease: An Italian multicenter study on behalf of the SIGENP.

Background: In pediatric patients, celiac disease (CD) may influence the health-related quality of life (HRQoL).

Aims: The study aimed to assess HRQoL and further characterise the clinical factors associated with reduced HRQoL, in a large multicenter pediatric cohort with CD.

Methods: The disease-specific questionnaire CD Dutch Questionnaire (CDDUX) and the generic questionnaire Paediatric Quality of Life Inventory (PedsQL) were used to assess the HRQoL.

Predisposing Potential Risk Factors for Severe Anorexia Nervosa in Adolescents.

Background: Anorexia nervosa is a serious eating disorder that mainly affects children and adolescents. Most patients present with extreme body dissatisfaction and an obsessive focus on body weight and food. Anorexia nervosa is a complex and multifactorial condition characterised by biological, psychological, and social factors.

Dent disease: Clinical Practice Recommendations.

Dent disease is a rare X-linked tubulopathy that is characterized by low-molecular-weight (LMW) proteinuria associated with hypercalciuria, which may lead to nephrolithiasis, nephrocalcinosis, and kidney failure between the 3rd and the 5th decades of life in 30-80% of affected males. The disease is most often associated with various manifestations of proximal tubular dysfunction. Affected individuals may present nephrotic range proteinuria which may be misinterpreted and cause diagnostic delay.

The role of executive functions in preschool children with autism spectrum disorder: A short narrative review.

Atypical executive functions (EFs) are well-documented in individuals with autism spectrum disorders (ASD) across all ages. However, most research focuses on EFs impairments in school-aged children and older, with less attention to preschool children. Understanding EF deficits in this age group is challenging and underexplored due to limited studies and measurement difficulties.

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

The Internet of Things in the Nutritional Management of Patients with Chronic Neurological Cognitive Impairment: A Scoping Review.

Background/objectives: The Internet of Things (IoT) technology connects objects to the internet, and its applications are increasingly used in healthcare to improve the quality of care. However, the use of IoT for the nutritional management of patients with chronic neurological cognitive impairment is still in development. This scoping review aims to describe the integration of IoT and its applications to support monitoring, interventions, and nutritional education for patients with chronic neurological cognitive impairment.

The baked side: Cow's milk and egg protein threshold dose distributions in children reacting to baked milk and baked egg.

Background: Children allergic to milk and egg, but tolerant to baked products, display higher reactivity thresholds than the general population of children allergic to milk and egg. We sought to verify the reactivity thresholds of milk- and egg-allergic children who also react to baked milk and baked egg, respectively.

Methods: We retrospectively assessed consecutive oral food challenge (OFC) for baked milk and egg between January 2018 and March 2022 in a population of baked milk- and baked-egg allergic children.

Segmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?

Segmental Brainstem Myoclonus (SBM) is a rare movement disorder characterized by rhythmic contractions of muscles innervated by brainstem segments. We report a 20-year-old patient with ADCK3-related spinocerebellar ataxia type 9 (SCAR9) presenting with sudden-onset myoclonic movements of the throat, tongue, and soft palate. Brain MRI showed stable findings, including dentate nucleus hyperintensities.