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.

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.

Optimizing Antitumor Necrosis Factor Treatment in Pediatric Inflammatory Bowel Disease With Therapeutic Drug Monitoring.

Biological agents have revolutionized inflammatory bowel disease treatment but primary nonresponse and secondary loss of response are common with resulting adverse outcomes. Clinical trials demonstrated an association between serum drug concentrations, as well as the presence of antidrug antibodies, and loss-of-response. Therapeutic drug monitoring (TDM), defined as the evaluation of drug concentrations and antidrug antibodies, is appearing as a strategy to optimize treatment and take full advantage from these drugs.

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.

Background And Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.

Methods: A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22].

Food protein-induced enterocolitis syndrome: a challenging diagnosis.

Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated gastrointestinal food hypersensitivity triggered by food proteins. It may present acutely, with repetitive vomiting, diarrhoea and lethargy leading to dehydration and eventually shock or insidiously with intermittent emesis, chronic diarrhoea or failure to thrive. We describe a paediatric male patient with recurrent sepsis-like episodes of fever, lethargy, ashen-grey skin colouration and vomiting followed by diarrhoea.

Antituberculosis Drug-Induced Liver Injury with Autoimmune Features: Facing Diagnostic and Treatment Challenges.

The authors present a case report of antituberculosis drug-induced liver injury that offered diagnostic challenges (namely, the possibility of drug-induced autoimmune hepatitis) and treatment difficulties.

Milk-sensitive eosinophilic gastroenteritis in a 2-month-old boy.

Eosinophilic gastroenteritis is a rare disease of unknown aetiology, characterised by eosinophilic infiltration of the gastrointestinal wall with various gastrointestinal manifestations. Clinical presentation and radiological findings are non-specific and there is an overlap with more frequent childhood diseases requiring a high degree of clinical suspicion for accurate diagnosis. We describe a 2-month-old boy with prolonged diarrhoea, vomiting and food refusal.

Necrotising enterocolitis in a full-term infant with reversed diastolic flow in the descending aorta: what is the diagnosis?

Vein of Galen malformations (VGM) are rare intracranial vascular anomalies that constitute 1% of all intracranial vascular malformations. Untreated VGM have a very poor prognosis. A high proportion of patients who present in the neonatal period rapidly deteriorate and succumb to congestive cardiac failure.

How important it is to determine the blood pressure in paediatric patients?

The prevalence of hypertension among the paediatric population is 1%-2%. The emergency physician should recognise potentially harmful blood pressure (BP) levels and ensure they are adequately treated, in order to avoid life-threatening complications. A hypertensive emergency is a severely elevated BP complicated by target organ dysfunction (cardiovascular, cerebrovascular and/or renal).