An Approach to and Treatment of Indeterminate Biliary Strictures: A Comprehensive Review of the Literature.

This review aims to focus on what we know about the management of biliary strictures of unknown etiology, especially exploring our diagnostic armamentarium in the setting of indeterminate biliary strictures. Presently, this is a current issue that has a relevant impact both on patient prognosis, often delaying diagnosis, and on overall costs associated with repeating diagnostic procedures, sometimes performed with very expensive devices. We also focus on current biliary drainage approaches, providing an overview of therapeutic options, endoscopic or not.

Amyloidosis in Childhood: A Review of Clinical Features and Comparison with Adult Forms.

Amyloidosis is a rare multisystem disorder characterized by extracellular accumulation of insoluble fibrils in various organs and tissues. The most common subtype in the pediatric population is systemic reactive amyloidosis, typically developing secondary to chronic inflammatory conditions and resulting in deposition of serum amyloid A protein in association with apolipoprotein HDL3. Clinical presentation is highly variable and is mostly influenced by specific organs involved, precursor protein type, and extent of amyloid deposition, often closely reflecting clinical features of the underlying disease.

Pulmonary manifestations of juvenile vs. adult systemic sclerosis: insights into pathophysiological and clinical features.

Juvenile systemic sclerosis (jSSc), the pediatric counterpart of systemic sclerosis (SSc), is a rare autoimmune disorder characterized by vasculopathy and fibrotic disorders. It ranks among the rheumatologic diseases with the highest rates of morbidity and mortality, predominantly impacting females. Although a universally accepted classification for jSSc remains elusive, a provisional classification proposed in 2007 integrates major and minor criteria, reflecting the involvement of diverse organs and tissues.

Diagnostic Endoscopic Ultrasound (EUS) of the Luminal Gastrointestinal Tract.

The purpose of this review is to focus on the diagnostic endoscopic ultrasound of the gastrointestinal tract. In the last decades, EUS has gained a central role in the staging of epithelial and sub-epithelial lesions of the gastrointestinal tract. With the evolution of imaging, the position of EUS in the diagnostic work-up and the staging flow-chart has continuously changed with two extreme positions: some gastroenterologists think that EUS is absolutely indispensable, and some think it is utterly useless.

NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.

Pathogenic gene variants encoding nuclear pore complex (NPC) proteins were previously implicated in the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). The gene, encoding nucleoporin, is related to a very rare form of SRNS with limited genotype-phenotype information. We identified an Italian boy affected with an SRNS associated with severe neurodevelopmental impairment characterized by microcephaly, axial hypotonia, lack of achievement of motor milestones, and refractory seizures with an associated hypsarrhythmic pattern on electroencephalography.

Outcomes of a 3-Year Prospective Surveillance in Individuals at High Risk of Pancreatic Cancer.

Introduction: Pancreatic cancer (PC) surveillance of high-risk individuals (HRI) is becoming more common worldwide, aiming at anticipating PC diagnosis at a preclinical stage. In 2015, the Italian Registry of Families at Risk of Pancreatic Cancer was created. We aimed to assess the prevalence and incidence of pancreatic findings, oncological outcomes, and harms 7 years after the Italian Registry of Families at Risk of Pancreatic Cancer inception, focusing on individuals with at least a 3-year follow-up or developing events before.

Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights.

McCune-Albright Syndrome (MAS) is a rare mosaic (post-zygotic) genetic disorder presenting with a broad continuum clinical spectrum. MAS arises from somatic, activating mutations in the gene, which induces a dysregulated Gsα-protein signaling in several tissues and an increased production of intracellular cyclic adenosine monophosphate (cAMP). Overall, MAS is a rare disorder affecting less than 1/100,000 children and, for this reason, data establishing genotype-phenotype correlations remain limited.

Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis.

Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in the paediatric population. JIA comprises a heterogeneous group of disorders with different onset patterns and clinical presentations with the only element in common being chronic joint inflammation. This review sought to evaluate the most relevant and up-to-date evidence on current knowledge regarding the pathogenesis of JIA subtypes to provide a better understanding of these disorders.

Digital single-operator cholangioscopy in diagnostic and therapeutic bilio-pancreatic diseases: A prospective, multicenter study.

Background And Aim: Digital single-operator cholangioscopy (D-SOC) is an endoscopic procedure that is increasingly used for the management of bilio-pancreatic diseases. We aimed to investigate the efficacy and safety of D-SOC for diagnostic and therapeutic indications.

Methods: This is a multicenter, prospective study(January 2016-June 2019) across eighteen tertiary centers.

Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis.

Wolman Disease (WD) is a severe multi-system metabolic disease due to lysosomal acid lipase (LAL) deficiency. We report on a WD infant who developed an unusual hemophagocytic lymphohistiocytosis (HLH) phenotype related to WD treated with sebelipase alfa. A male baby came to our attention at six months of life for respiratory insufficiency and sepsis, abdominal distension, severe hepatosplenomegaly, diarrhea, and severe growth retardation.

A prospective study on quality in endoscopic retrograde cholangiopancreatography (ERCP): trend in Italy from the REQUEST study.

Endoscopic retrograde cholangiopancreatography (ERCP) is a complex procedure with a relatively high rate of adverse events. Data on training of operators and fulfillment of quality indicators in Italy are scarce. The goal of this study was to assess the overall quality of ERCP in Italy compared to international standards.

A multicenter survey on endoscopic retrograde cholangiopancreatography during the COVID-19 pandemic in northern and central Italy.

COVID-19 has dramatically impacted endoscopy practice because upper endoscopy procedures can be aerosol-generating. Most elective procedures have been rescheduled. Endoscopic retrograde cholangiopancreatography (ERCP) is frequently performed in emergency or urgent settings in which rescheduling is not possible.

EUS-guided core biopsies of pancreatic solid masses using a new fork-tip needle: A multicenter prospective study.

Background And Aim: Endoscopic ultrasound-guided sampling (EUS sampling) is a safe and effective technique. The study aim was to evaluate the presence of a histological core from pancreatic lesions using a new 25G fork-tip needle.

Methods: Observational multicenter prospective and analytical study, including consecutive patients with solid pancreatic masses referred for EUS-guided sampling.