Upper Limit on the Photoproduction Cross Section of the Spin-Exotic π_{1}(1600).

The spin-exotic hybrid meson π_{1}(1600) is predicted to have a large decay rate to the ωππ final state. Using 76.6  pb^{-1} of data collected with the GlueX detector, we measure the cross sections for the reactions γp→ωπ^{+}π^{-}p, γp→ωπ^{0}π^{0}p, and γp→ωπ^{-}π^{0}Δ^{++} in the range E_{γ}=8-10  GeV.

Laparoscopic robotic-assisted ileo-caecal resection with intracorporeal anastomosis in children with Crohn disease: initial experience of a paediatric center and surgical feasibility.

Purpose: Pediatric-onset Crohn's disease (CD) presents with a more aggressive course than adults. Surgical treatment is still necessary in many patients. The laparoscopic technique for treating terminal ileal CD is deemed safe and feasible, with the advantage to perform an intra-corporeal anastomosis (ICA).

Prevalence and outcomes of arthritis in pediatric IBD: A multicenter study from the Italian Society of Pediatric Gastroenterology Hepatology and Nutrition.

Background And Aims: The aim of the present study was to assess prevalence and disease outcomes of arthritis in a nationwide cohort of pediatric patients with inflammatory bowel disease (IBD).

Methods: We collected data of pediatric IBD patients experiencing arthritis from the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition IBD registry. We gathered baseline and one-year follow-up data on concomitant IBD and arthritis diagnosis.

Early Onset of Wilson's Disease and Possible Role of Disease-Modifying Genes: A Case Report and Literature Review.

Wilson's disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, resulting in copper accumulation. Symptoms rarely appear before the age of 5, almost never before 3. The phenotypic variability of WD suggests the presence of modifying factors, making early diagnosis challenging.

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

: The pathogenetic role of 15q11.2 Copy Number Variations (CNVs) remains contentious in the scientific community, as microdeletions and microduplications in this region are linked to neurodevelopmental disorders with variable expressivity. This study aims to explore the diagnostic utility of Exome Sequencing (ES) in a cohort of pediatric patients with 15q11.

Laparoscopic Robotic-Assisted Restorative Proctocolectomy and Ileal J-Pouch-Anorectal Anastomosis in Children: Shifting to a Two Stage-Approach.

Restorative proctocolectomy (RPC) with ileal pouch-anal anastomosis (IPAA) is the gold standard surgical treatment for patients with ulcerative colitis (UC) unresponsive to medical therapy and those with familial adenomatous polyposis. Robotic IPAA is a safe and feasible option for the surgical treatment of UC in children. The feasibility of IPAA without ileostomy has been demonstrated in adult in the modified two-stage approach.

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we compiled a case-series of 11 patients with neurodevelopmental phenotypes harbouring de novo monoallelic variants in DDX17. All 11 patients in our case series had a neurodevelopmental phenotype, whereby intellectual disability, delayed speech and language, and motor delay predominated.

Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in pediatric Inflammatory Bowel Disease: clinical characteristics and outcomes.

Hemophagocytic Lymphohistiocytosis (HLH)/Macrophage Activation Syndrome (MAS) in children with inflammatory bowel disease (IBD) has been reported only anecdotally. This study aimed at describing the clinical features and outcomes of children diagnosed with both IBD and HLH/MAS. Data on IBD and HLH/MAS characteristics, biochemical, microbiological and genetic assessments, treatments, and outcomes were collected from the Italian Pediatric IBD Registry and presented using descriptive statistics.

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.

Mutations targeting distinct domains of the neuron-specific kinesin KIF5A associate with different neurodegenerative/neurodevelopmental disorders, but the molecular bases of this clinical heterogeneity are unknown. We characterised five key mutants covering the whole spectrum of KIF5A-related phenotypes: spastic paraplegia (SPG, R17Q and R280C), Charcot-Marie-Tooth disease (CMT, R864*), amyotrophic lateral sclerosis (ALS, N999Vfs*40), and neonatal intractable myoclonus (NEIMY, C975Vfs*73) KIF5A mutants. CMT-R864*-KIF5A and ALS-N999Vfs*40-KIF5A showed impaired autoinhibition and peripheral localisation accompanied by altered mitochondrial distribution, suggesting transport competence disruption.

Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region.

Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder with a birth incidence of 1:25,000. SMS is caused by haploinsufficiency of the retinoic acid-induced retinoic acid1 (RAI1) gene, determined by an interstitial deletion of ∼ 3.7 Mb (17p11.

Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.

Background: Gillespie syndrome is a rare disorder caused by pathogenic variants in ITPR1 gene and characterized by the typical association of cerebellar ataxia, bilateral aniridia and intellectual disability. Since its first description in 1965, less than 100 patients have been reported and only 30 with a molecular confirmation.

Methods: We present two additional cases, both carrying a loss-of-function variant in the Gly2539 amino acid residue.

Quality of life after colectomy and ileo-jpouch-anal anastomosis in paediatric patients with ulcerative colitis.

Introduction: Ulcerative Colitis (UC) is an Inflammatory Bowel Disease (IBD). Surgery is required in cases of severe acute colitis, massive hemorrhage, toxic megacolon, and perforation; in such cases colectomy and JpouchIleoanal anastomosis (IPAA) are performed. The aim of this study was to evaluate functional outcome, and patient satisfaction and Quality of Life (QoL) after surgery.

A GAVeCeLT consensus on the indication, insertion, and management of central venous access devices in the critically ill.

Central venous access devices are essential for the management of critically ill patients, but they are potentially associated with many complications, which may occur during or after insertion. Many evidence-based documents-consensus and guidelines-suggest practical recommendations for reducing catheter-related complications, but they have some limitations. Some documents are not focused on critically ill patients; other documents address only some special strategies, such as the use of ultrasound; other documents are biased by obsolete concepts, inappropriate terminology, and lack of considerations for new technologies and new methods.

Artificial Intelligence Applications for Thoracic Surgeons: "The Phenomenal Cosmic Powers of the Magic Lamp".

In the digital age, artificial intelligence (AI) is emerging as a transformative force in various sectors, including medicine. This article explores the potential of AI, which is akin to the magical genie of Aladdin's lamp, particularly within thoracic surgery and lung cancer management. It examines AI applications like machine learning and deep learning in achieving more precise diagnoses, preoperative risk assessment, and improved surgical outcomes.

Respiratory Syncytial Virus: Epidemiology, Burden of Disease, and Clinical Update.

Respiratory syncytial virus (RSV) is a common viral pathogen that accounts about 33 million cases of acute lower respiratory tract infection (LRTI) worldwide in children under the age of 5 years each year. High-risk populations, particularly preterm infants, those with underlying chronic lung disease, congenital heart disease, or compromised immune systems, are afflicted most significantly. RSV infection is characterized by significant amount of mucus and submucosal edema in the respiratory tract, leading to congestion and, oftentimes, significant respiratory distress.

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused by pathogenic variants in SMARCA2, that encodes the catalytic subunit of the superfamily II helicase group of the BRG1 and BRM-associated factors (BAF) forming the BAF complex, a chromatin remodeling complex involved in transcriptional regulation. Individuals bearing variants within the bipartite nuclear localization (BNL) signal domain of ADNP present with the neurodevelopmental disorder known as Helsmoortel-Van Der Aa Syndrome (HVDAS).