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.

Nonverbal Skills Evolution in Children with Autism Spectrum Disorder One Year Post-Diagnosis.

: Gestural production, a crucial aspect of nonverbal communication, plays a key role in the development of verbal and socio-communicative skills. Delays in gestural development often impede verbal acquisition and social interaction in children with Autism Spectrum Disorder (ASD). Although various interventions for ASD focus on improving socio-communicative abilities, they consistently highlight the importance of integrating gestures to support overall communication development.

Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters.

Friedreich ataxia (FRDA) is the most common inherited ataxia, primarily impacting the nervous system and the heart. It is characterized by GAA repeat expansion in the FXN gene, leading to reduced mitochondrial frataxin levels. Previously, we described a family displaying two expanded GAA alleles, not only in the proband affected by late-onset FRDA but also in the younger asymptomatic sister.

Clinical performance of implanted devices used in surgical treatment of patients with spinal tumors: a systematic review.

Purpose: Implanted devices used in metastatic spine tumor surgery (MSTS) include pedicle screws, fixation plates, fixation rods, and interbody devices. A material to be used to fabricate any of these devices should possess an array of properties, which include biocompatibility, no toxicity, bioactivity, low wear rate, low to moderate incidence of artifacts during imaging, tensile strength and modulus that are comparable to those of cortical bone, high fatigue strength/long fatigue life, minimal or no negative impact on radiotherapy (RT) planning and delivery, and high capability for fusion to the contiguous bone. The shortcomings of Ti6Al4V alloy for these applications with respect to these desirable properties are well recognized, opening the field for an investigation about novel biomaterials that could replace the current gold standard.

The Italian Consensus Conference on the role of rehabilitation for children and adolescents with leukemia, central nervous system tumors, and bone cancer, part 2: general principles for the rehabilitation treatment of motor function impairments.

In Italy, 1400 children and 800 adolescents are diagnosed with cancer every year. About 80% of them can be cured but are at high risk of experiencing severe side effects, many of which respond to rehabilitation treatment. Due to the paucity of literature on this topic, the Italian Association of Pediatric Hematology and Oncology organized a Consensus Conference on the role of rehabilitation of motor impairments in children/adolescents affected by leukemia, central nervous system tumors, and bone cancer to state recommendations to improve clinical practice.

Redox Biomarkers in Asymptomatic Latent Human Tuberculosis: A Comparison With Active Disease.

Background: Latent tuberculosis infection is an asymptomatic infection caused by Mycobacterium tuberculosis. Previous studies have shown a host-protective role for heme oxygenase-1 (HO-1) during M. tuberculosis infection and an important involvement of glutathione peroxidase-4 (Gpx4) in the necrotic pathology of the disease.

What Factors Predict Adaptive Functioning in Preschool Children with Autism Spectrum Disorder? A Longitudinal Study.

Adaptive functioning constitutes a fundamental aspect of the phenotype associated with autism spectrum disorder (ASD) in preschool-aged children, exerting a significant influence on both the child and the family's overall quality of life. The aim of this study was to investigate the predictors of the adaptive functioning domains in preschool-age children with ASD at two time points, providing a snapshot of this fundamental developmental step. Ninety-five children with ASD ( = 3.

Bioprosthetic pulmonary valve dysfunction in a primary cardiac sarcoma survivor: Clinical considerations and treatment options.

The case highlights the good survival after radical surgery and chemotherapy of a cardiac sarcoma, and the need for close follow-up due to possible early postsurgical complications.

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.

Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper motor neurons, with different inheritance patterns and phenotypes. SPG46 is a rare, early-onset and autosomal recessive HSP, linked to biallelic GBA2 mutations. About thirty families have been described worldwide, with different phenotypes like complicated HSP, recessive cerebellar ataxia or Marinesco-Sjögren Syndrome.

Interventional treatments for low back pain due to sacroiliac joint dysfunction: a systematic review of the literature.

Purpose: This systematic review aimed to report the current evidence in the literature about the efficacy of interventional treatments in the management of low back pain (LBP) due to sacroiliac joint dysfunction.

Methods: A systematic review was performed using the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. Medline, EMBASE, Scopus, CINAHL, Cochrane Library, and CENTRAL bibliographic databases were searched.

Exploring nasopharyngeal microbiota profile in children affected by SARS-CoV-2 infection.

Unlabelled: The relationship between COVID-19 and nasopharyngeal (NP) microbiota has been investigated mainly in the adult population. We explored the NP profile of children affected by COVID-19, compared to healthy controls (CTRLs). NP swabs of children with COVID-19, collected between March and September 2020, were investigated at the admission (), 72 h to 7 days (), and at the discharge () of the patients.

COVID-19 Genomic Surveillance in Bangui (Central African Republic) Reveals a Landscape of Circulating Variants Linked to Validated Antiviral Targets of SARS-CoV-2 Proteome.

Since its outbreak, Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) spread rapidly, causing the Coronavirus Disease 19 (COVID-19) pandemic. Even with the vaccines' administration, the virus continued to circulate due to inequal access to prevention and therapeutic measures in African countries. Information about COVID-19 in Africa has been limited and contradictory, and thus regional studies are important.

Treosulfan vs busulfan conditioning for allogeneic bmt in children with nonmalignant disease: a randomized phase 2 trial.

Optimal conditioning prior to allogeneic hematopoietic stem cell transplantation for children with non-malignant diseases is subject of ongoing research. This prospective, randomized, phase 2 trial compared safety and efficacy of busulfan with treosulfan based preparative regimens. Children with non-malignant diseases received fludarabine and either intravenous (IV) busulfan (4.

Distinct clinical phenotypes in paediatric cancer patients with sepsis are associated with different outcomes-an international multicentre retrospective study.

Background: Identifying phenotypes in sepsis patients may enable precision medicine approaches. However, the generalisability of these phenotypes to specific patient populations is unclear. Given that paediatric cancer patients with sepsis have different host response and pathogen profiles and higher mortality rates when compared to non-cancer patients, we determined whether unique, reproducible, and clinically-relevant sepsis phenotypes exist in this specific patient population.

Magnetic resonance imaging could precisely define the mean value of tendon thickness in partial rotator cuff tears.

Purpose: Rotator Cuff (RC) lesions are classified in full-thickness and partial-thickness tears (PTRCTs). To our knowledge, no studies investigated the mean size of shoulder tendons in healthy and PTRCT patients using MRI scans. The aim of the study was to provide data to obtain and compare the mean value of tendon sizes in healthy and PTRCTs groups.

Foreign body ingestion in children: Definition of a nomogram to predict surgical or endoscopic intervention.

Background And Aims: Foreign body ingestion (FBI) in children requires early identification to prevent adverse outcomes and may necessitate endoscopic or surgical intervention. This study aims to develop a nomogram that identifies children who require urgent surgical or endoscopic intervention by using the patient's medical history and clinical parameters collected at admission.

Methods: This study is a retrospective review (01/2015-12/2020) of a multicenter case series of children admitted for FBI.

Perfluorocarbons in Research and Clinical Practice: A Narrative Review.

Perfluorocarbons (PFCs) are organic liquids derived from hydrocarbons in which some of the hydrogen atoms have been replaced by fluorine atoms. They are chemically and biologically inert substances with a good safety profile. They are stable at room temperature, easy to store, and immiscible in water.

Preoperative and Postoperative Kinesiophobia Influences Postoperative Outcome Measures Following Anterior Cruciate Ligament Reconstruction: A Prospective Study.

The anterior cruciate ligament (ACL) is the most injured ligament of the knee, and the treatment of choice is usually ACL reconstruction. Kinesiophobia refers to an irrational and paralyzing fear of movement caused by the feeling of being prone to injury or reinjury. The aim of the present study is to evaluate the relationship between preoperative and postoperative kinesiophobia with postoperative outcomes of ACL-R evaluated through SF-36, ACL-RSI, KOOS, and OKS scores.

The treatment of obesity in children and adolescents: consensus position statement of the Italian society of pediatric endocrinology and diabetology, Italian Society of Pediatrics and Italian Society of Pediatric Surgery.

This Position Statement updates the different components of the therapy of obesity (lifestyle intervention, drugs, and surgery) in children and adolescents, previously reported in the consensus position statement on pediatric obesity of the Italian Society of Pediatric Endocrinology and Diabetology and the Italian Society of Pediatrics. Lifestyle intervention is the first step of treatment. In children older than 12 years, pharmacotherapy is the second step, and bariatric surgery is the third one, in selected cases.