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.

Mucus production and chronic obstructive pulmonary disease, a possible treatment target: zooming in on N-acetylcysteine.

Mucus hypersecretion is a trait of chronic obstructive pulmonary disease (COPD) associated with poorer outcomes. As it may be present before airway obstruction, its early treatment may have a preventive role. This narrative review of the literature presents the role of mucus dysfunction in COPD, its pathophysiology, and the rationale for the use of N-acetylcysteine (NAC).

Approach to anaemia in gastrointestinal disease: A position paper by the ESPGHAN Gastroenterology Committee.

Anaemia is a frequent consequence of many gastrointestinal (GI) diseases in children and it can even be the initial presenting symptom of underlying chronic GI disease. The definition of anaemia is age and gender-dependent and it can be classified based on pathophysiology, red cell morphology, and clinical presentation. Although nutritional deficiencies, including GI malabsorption of nutrients and GI bleeding, play a major role, other pathophysiologic mechanisms seen in chronic GI diseases, whether inflammatory (e.

Endoscopic Ultrasound-Guided Pancreatic Tissue Sampling: Lesion Assessment, Needles, and Techniques.

Endoscopic ultrasound (EUS)-guided tissue sampling includes the techniques of fine needle aspiration (FNA) and fine needle biopsy (FNB), and both procedures have revolutionized specimen collection from the gastrointestinal tract, especially from remote/inaccessible organs. EUS-FNB has replaced FNA as the procedure of choice for tissue acquisition in solid pancreatic lesions (SPLs) across various society guidelines. FNB specimens provide a larger histological tissue core (preserving tissue architecture) with fewer needle passes, and this is extremely relevant in today's era of precision and personalized molecular medicine.

Effectiveness of Equine-Assisted Activities and Therapies for Children with Autism Spectrum Disorder: An Update.

Background/objectives: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition requiring personalised therapeutic approaches. This study evaluated the effectiveness of Equine-Assisted Activities and Therapies (EAATs) in 86 children with varying ASD severity levels (levels 1-3).

Methods: Vineland Adaptive Behaviour Scales and the Parenting Stress Index were used.

Different Times for Different Metrics: Predicting 90 Days of Intermittently Scanned Continuous Glucose Monitoring Data in Subjects With Type 1 Diabetes on Multiple Daily Injection Therapy. Findings From a Multicentric Real-World Study.

Aims: According to the 2023 International Consensus, glucose metrics derived from two-week-long continuous glucose monitoring (CGM) can be extrapolated up to 90 days before. However, no studies have focused on adults with type 1 diabetes (T1D) on multiple daily injections (MDIs) and with second-generation intermittently scanned CGM (isCGM) sensors in a real-world setting.

Methods: This real-world, retrospective study included 539 90-day isCGM data from 367 adults with T1D on MDI therapy.

Subclinical target organ damage in a sample of children and adolescents with solitary functioning kidney. A pilot study.

Background: Patients with solitary functioning kidney appear to be exposed to an increased cardiovascular risk. This study aimed to evaluate the impact of peripheral and central blood pressure on subclinical cardiovascular organ damage in a sample of children and adolescents with solitary functioning kidney.

Methods: Carotid ultrasonography was performed to measure the carotid intima-media thickness (cIMT) and the carotid distensibility coefficient.

Are We Missing Something About the Maximum Dosing of Botulinum Toxin Type A1 in Adult and Pediatric Patients with Spasticity?

Botulinum toxin type A1 is a first-line treatment for adult and pediatric spasticity. However, when considering the quantity of 150 kDa neurotoxin protein in relation to patient weight and the maximum recommended dose for treating adult and pediatric patients with spasticity, several concerns arise. First, the therapeutic margin (the ratio of the actual maximum quantity of toxin recommended for treating adult spasticity to its median lethal dose) appears to be relevant.

Diagnostic Nerve Block to Guide Botulinum Neurotoxin Type A Injection for Clonus in Spastic Equinovarus Foot: A Retrospective Study.

Clonus is characterized by involuntary, rhythmic, oscillatory muscle contractions, typically triggered by rapid muscle stretching and is frequently associated with spastic equinovarus foot (SEVF), where it may increase risk of falls and cause discomfort, pain, and sleep disorders. We hypothesize that selective diagnostic nerve block (DNB) of the tibial nerve motor branches can help identify which muscle is primarily responsible for clonus in patients with SEVF and provide useful information for botulinum neurotoxin type A (BoNT-A) treatment. This retrospective study explored which calf muscles contributed to clonus in 91 patients with SEFV after stroke (n = 31), multiple sclerosis (n = 21), and cerebral palsy (n = 39), using selective DNB.

Bradyarrhythmias in patients with embolic stroke of undetermined source: a tight relationship with atrial cardiomyopathy.

Background: Implantable loop recorders (ILRs) have been shown to significantly improve the detection of atrial fibrillation (AF) in patients with embolic stroke of undetermined source (ESUS). The incidence and characterization of bradyarrhythmias in this subset of patients is still unknown.

Methods: All consecutive patients who received ILRs, after an ESUS, between March 2015 and December 2022 in our Center were retrospectively enrolled and analyzed.

Operative technique: Endoscopic transnasal surgery for congenital meningoencephalocele of the anterior skull base.

Congenital meningoencephaloceles of the anterior skull base (ASB) are rare lesions that become evident during childhood and, if not properly diagnosed and treated, can be associated with severe complications. In the past, encephaloceles were treated exclusively with open surgical approaches, which, however, are associated with high complication rates. Recent years have seen the large-scale introduction of transnasal endoscopic approaches to the skull base, and several Authors suggest that endoscopic resection and repair in cases of meningoencephalocele may be the treatment of first choice, being associated with lower complication rates and reduced operative time compared with open procedures.

Left atrial volumetric/mechanical coupling index and atrial fibrillation in the embolic stroke of undetermined source.

Introduction: Nowadays, no clear predictors of atrial fibrillation in patients with embolic stroke of undetermined source (ESUS) are known. Some echocardiographic parameters have been proposed as potential predictors of atrial fibrillation in patients with ESUS. The ratio between left atrial volume and tissue Doppler (TDI) a' provides the left atrial volumetric/mechanical coupling index (LACI) and represents a feasible surrogate for left atrial function, and might be useful to identify atrial fibrillation in this subset of patients.

Screening fasting glucose before the OGTT: near-patient glucometer- or laboratory-based measurement?

Objectives: The measurement of fasting glucose is a common practice for lowering the risk of hyperglycemia before an oral glucose tolerance test (OGTT). In this study we analyze advantages and limitations of near-patient measurement of capillary fasting glucose with a portable glucometer or blood sampling and measurement of plasma glucose with laboratory instrumentation.

Methods: The final study population consisted of 241 subjects (mean age: 36 ± 8 years; 97.

Novel loci and biomedical consequences of iron homoeostasis variation.

Iron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported.

Real-world adoption of left bundle branch area pacing: Insights from the Conduction-System pacing Italian Network Group (C-SING).

Background And Objective: Left bundle branch area pacing (LBBAP) is increasingly used for treating bradycardia and heart failure. However, real-world data are limited. The Conduction-System Pacing Italian Network Group (C-SING) collected prospective data on LBBAP procedures in a nationwide context.

Hepatic lipogenesis marked by GCKR-modulated triglycerides increases serum FGF21 in children/teens with obesity.

Aims: Fibroblast growth factor 21 (FGF21) decreases hepatic lipogenesis in animal models, and FGF21 analogues decrease serum triglycerides (TG) in adults in phase-2 trials. On the other hand, serum FGF21 is associated with higher TG in observational studies of people with obesity, raising a sort of paradox. We tested the hypothesis that FGF21 is induced by TG in youth with obesity, as a compensatory mechanism.

Combined Effect of tDCS and Motor or Cognitive Activity in Patients with Alzheimer's Disease: A Proof-of-Concept Pilot Study.

(1) Background: Alzheimer's disease (AD) accounts for 70% of dementia cases and with no effective pharmacological treatments, new rehabilitation methods are needed. Motor and cognitive activities and transcranial direct current stimulation (tDCS) have shown promise in stabilizing and enhancing cognitive functions. Objective: we want to investigate the effects of tDCS combined with motor or cognitive activity on cognitive functions in AD patients.

The precision medicine strategy to treat COPD pulmonary traits in clinical practice: The role of N-acetylcysteine.

Chronic obstructive pulmonary disease (COPD) is a progressive lung condition and a leading cause of physical decline and death. COPD prevalence is expected to increase steadily in the coming years, and as a result, the healthcare and social burden of this condition will intensify. In this scenario, a patient-centric approach, the treatable trait (TT) strategy, based on the identification of traits that are clinically relevant, identifiable, monitorable and treatable, has emerged.