37 documents found, page 1 of 4

Nijmegen breakage syndrome: The importance of follow-up

Nijmegen breakage syndrome (NBS) is a rare genetic disorder caused by mutations in the NBN gene, which is inherited in an autosomal recessive pattern. The condition results in inadequate DNA repair and is characterized by immunodeficiency with recurrent sinopulmonary infections, increased radiosensitivity, and predisposition to malignancy, particularly of lymphoid origin. The main clinical feature is progressiv...

Enhancing Public Health Communication Regarding Vaccine Trials: Design and Deve...

Background: The pan-European VACCELERATE network aims to implement the first transnational harmonized and sustainable vaccine trial Volunteer Registry, being a single entry point for potential volunteers of large-scale vaccine trials across Europe. This work exhibits a set of harmonized vaccine trial-related educational and promotional tools for the general public, designed and disseminated by the pan-European ...

A rare presentation of COVID-19 in a ten-year-old girl

Multisystem inflammatory syndrome in children (MIS-C) is a severe and rare manifestation of SARS-CoV-2 infection. A 10-year-old-girl without epidemiological context of COVID-19 presented with fever, headache, and vomiting with two days of evolution. She was hemodynamically stable. Laboratory tests showed lymphopenia, mild thrombocytopenia, and positive C-reactive protein. Reverse transcription polymerase chain ...

Long COVID in children and adolescents: Is it real?

Introduction: While acute COVID-19 symptoms are well defined and described, long-term symptoms are not. Most patients achieve full recovery within 3-4 weeks after the onset of the infection, but in some cases, symptoms persist weeks or months after recovery. Although extensively studied in adults, COVID-19 data in pediatric patients remains scarce. Objective: To review the available literature regarding Long CO...

Manifestações gastrointestinais de COVID-19 em idade pediátrica

Introdução: Os sintomas gastrointestinais (GI) associados à COVID-19 têm assumido uma importância crescente, particularmente em idade pediátrica. A expressão de recetores de angiotensina II no trato GI pode estar relacionada, não só com a predominância de sintomas GI, como com a sua apresentação GI isolada em alguns casos. O objetivo deste estudo foi caracterizar uma população de doentes pediátricos com COVID-1...

Pediatric COVID-19 ─ What kind of disease is it?

Background: The burden of COVID-19 is reported to be less significant in pediatric patients, with lower morbidity and mortality. Our center secured daily telephone follow-up for pediatric COVID-19 outpatients during the isolation period of the pandemic. The aim of this study was to describe COVID-19 manifestations in the pediatric population. Methods: This was a retrospective cohort study of pediatric COVID-19 ...

Infectious disease clinical case

Recurrent Meningococcal Disease: An Alert Sign

Recurrent meningococcal disease is a red flag for immune deficits with increased susceptibility for Neisseria meningitidis infections. Meningococcal disease still causes high morbidity and mortality throughout the world, despite the advances in understanding its pathophysiology and implementing effective treatment. Recurrent meningococcal disease mandates the exclusion of complement deficiencies. The authors re...

Infectious disease clinical case

Cutaneous leishmaniasis - two cases, two perspectives

Although endemic in some regions, as the Douro river valley, cutaneous leishmaniasis is a rare zoonosis in Portugal. Children are the most affected age group. Treatment remains controversial, given the lack of scientific evidence. The goal of cutaneous leishmaniasis treatment is to avoid dissemination and progression to disfiguring lesions. The option between no, systemic, or intralesional treatment should be c...