EVOLUTION OF DIAGNOSTIC DELAY IN PEDIATRIC INFLAMMATORY BOWEL DISEASE AND THE IMPACT OF THE COVID-19 PANDEMIC.

Background: Pediatric inflammatory bowel disease (IBD) is increasingly prevalent, but diagnosis can still be challenging. Diagnostic delay is particularly deleterious in this age group.

Objective: This study explores the evolution of diagnostic delay in pediatric IBD and the influence of the COVID-19 pandemic.

Impact of COVID-19 in Pediatric Patients and Young Adults with Inflammatory Bowel Disease.

Introduction: Acute COVID-19 in pediatric and young adult patients tends to be milder in severity compared to adult infection. Recent studies seem to show that inflammatory bowel disease (IBD) patients are at no greater risk than the general population. We aim to describe our experience in the follow-up of pediatric and young adult patients with IBD followed in our center and determine possible risk factors of said population for severe COVID-19.

Could Commercial Formulations Replace Individualized Prescription in Pediatric Home Parenteral Nutrition?

Objectives: Standard parenteral nutrition (PN) solutions are safe and can meet the nutritional requirements of a significant number of pediatric patients. However, they may not always be adequate for those on long term PN. We aimed to compare the composition of individually tailored prescriptions in a pediatric population on home PN with that of available commercial PN formulations.

Diagnostic Yield of Endoscopic Procedures in Children: Experience of a Portuguese Center.

Background: Over the last decades, the use of gastrointestinal (GI) endoscopic procedures has been increased in children worldwide, allowing the early diagnosis and therapeutic intervention in multiple GI diseases.

Aims And Methods: In order to evaluate the appropriateness and the diagnostic yield of initial GI endoscopic techniques in children in a Portuguese tertiary hospital, we performed a retrospective cohort study during a 12-month period.

Results: A total of 308 procedures were performed in 276 patients; the median age was 11 years and 50.

Epstein-Barr Virus Infection and Thiopurine Therapy in a Pediatric Population with Inflammatory Bowel Disease.

Unlabelled: Epstein Barr virus (EBV) primoinfection may contribute to the development of post-mononucleosis lymphomas in EBV-seronegative adult males with inflammatory bowel disease (IBD) under thiopurine therapy, but data on children are sparse. Knowledge of the EBV status may influence the type of surveillance and therapy in a group particularly vulnerable to the occurrence of EBV primoinfection. We aimed to determine the EBV status at diagnosis, the primoinfection rate, and complications in a pediatric Portuguese population with IBD.

Laparoscopic sleeve gastrectomy in morbidly obese adolescents: Initial experience of a Pediatric Multidisciplinary Unit.

Introduction: Childhood obesity is a significant health problem worldwide, associated with significant metabolic and cardiovascular morbidity. Recent evidence points to metabolic and bariatric surgery as a safe and effective treatment for morbidly obese adolescents. We aim to report the initial results after laparoscopic sleeve gastrectomy (LSG) for adolescent patients in a pediatric center.

Perianal Disease and Granulomas: Think Out of the Box….

Background: Chronic granulomatous disease (CGD) is a primary immunodeficiency due to a malfunction of NADPH oxidase. It is characterized by recurrent and severe infections caused by catalase-positive microorganisms and autoinflammatory manifestations. Recently, there has been described an gene variant that causes a deficiency of p40, a subunit of NADPH oxidase.

Phenotypic heterogeneity of hereditary diffuse gastric cancer: report of a family with early-onset disease.

Background And Aims: The time course for the development of clinically significant hereditary diffuse gastric cancer (HDGC) is unpredictable. Little is known about the progression from preclinical, indolent lesions to widely invasive, aggressive phenotypes. Gastroendoscopy often fails to detect early lesions, and risk-reducing/prophylactic total gastrectomy (PTG) is the only curative approach.

Hypercholesterolemia--a disease with expression from childhood.

Introduction: Hypercholesterolemia results from an alteration, genetic or acquired, in lipoprotein metabolism. Evidence that hypercholesterolemia is associated with the atherosclerotic process from childhood justifies the screening of high-risk children and initiation of therapy at preschool ages.

Objective: To assess children referred for pediatric consultations due to hypercholesterolemia.

A novel splicing mutation causes analbuminemia in a Portuguese boy.

Analbuminemia is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating serum albumin in homozygous or compound heterozygous subjects. It is an allelic heterogeneous defect, caused by a variety of mutations within the albumin gene. The analbuminemic condition was suspected in a Portuguese boy who presented with low albumin level (about 3.