Publications by authors named "Helena Moreira-Silva"

Background: Gallstone disease (GD) is no longer an exclusive condition of adulthood, and its prevalence is increasing in pediatric age. The management and the extent of the etiological investigation of GD in children and adolescents remains controversial. This study aimed to analyze the difficulties in the work-up and management of pediatric GD patients.

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The therapeutic approach to inflammatory bowel disease (IBD) is complex, often involving multiple pharmacologic classes. We aimed to evaluate the prevalence of drug-related adverse reactions (ARs) associated with therapies used in pediatric IBD. We conducted a retrospective study of pediatric patients with IBD followed in a tertiary hospital from 2010 to 2022.

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Neurofibromatosis type 1 (NF-1) is a multisystem genetic disorder affecting the NF1 tumor suppressor gene. Patients typically develop superficial (cutaneous) and internal (plexiform) neurofibromas. The latter may rarely involve the liver locating in the hilum and encasing the portal vessels, leading to portal hypertension.

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Children with elevated liver enzymes are occasionally discovered through laboratory work-up from different clinical scenarios. Although the majority will have transient and/or benign conditions, a subgroup will have underlying liver disorders. The differential diagnosis is broad and therefore, a systematic approach is of utmost importance.

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Article Synopsis
  • The global rise in pediatric obesity and increased sugar intake is linked to non-alcoholic fatty liver disease (NAFLD), with elevated branched-chain amino acids (BCAAs) signaling potential metabolic risks.
  • A case study of a 17-year-old boy with maple syrup urine disease (MSUD) revealed his unhealthy diet led to overweight issues and metabolic syndrome, necessitating a liver transplant at 13.
  • After his transplant, NAFLD recurred despite improved BCAA levels but improved after a fructose-restricted diet, highlighting the need for more research to understand the implications of BCAAs and sugar on NAFLD in MSUD patients.
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Incidental liver lesions are increasingly being discovered in the context of the increased use of ultrasound studies and the majority are benign. In children, although individually rare, the differential diagnosis is broad and therefore a systematic approach is of utmost importance to reduce the radiological and disease burden in children and their families. This review article collected current evidence and provides fundamental information for the clinician regarding specific differential diagnoses and unique imaging features of benign liver lesions in children.

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A ten-year-old boy presented with a two-year history of iron deficiency anemia (IDA) and occasional vomiting. His medical history included cerebral palsy and chronic pulmonary disease under mechanical cough assistance and nocturnal non-invasive ventilation.

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Despite the recent advances involving molecular studies, the neonatal cholestasis (NC) diagnosis still relays on the expertise of medical teams. Our aim was to develop models of etiological diagnosis and unfavourable prognosis which may support a rationale diagnostic approach. We retrospectively analysed 154 patients born between January 1985 and October 2019.

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Metabolic liver diseases (MLD) are an important group of disorders presenting with neonatal cholestasis (NC). The spectrum of liver involvement is wide and the presumptive diagnosis is traditionally based on clinical and laboratory findings. Recently, next-generation sequencing (NGS) panels have emerged as an appealing tool to diagnose neonatal/infantile cholestatic disorders.

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Objectives: Autoimmune gastritis (AIG) is a chronic inflammatory condition of the gastric mucosa, mainly described in adults presenting with pernicious anemia. It results from antibody-mediated destruction of parietal cells, but the precise initiating event is unknown. The pathogenicity of Helicobacter pylori (H pylori) has been suggested but not established.

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We have carefully read the article "Superior mesenteric artery syndrome: an uncommon cause of intestinal obstruction" by José Barquín-Yagüez et al. and we would like to report one case with the same diagnosis but with another etiology.

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We describe the case of a previously healthy 8-year-old girl presenting with a 1-year history of iron deficiency anemia. There was no report of hematemesis, abdominal pain or melena. Laboratory work-up excluded iron malabsorption as the underlying cause.

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Background: The increasing prevalence of Helicobacter pylori (H. pylori) antimicrobial resistance, primarily for clarithromycin decreases the success of treatment. The aim of this study is to determine the local pattern of first-line antimicrobials resistance and the eradication rate.

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Dysphagia lusoria (lusus naturae, latin for "freak of nature") describes dysphagia because of vascular compression of the esophagus. Symptoms, when present, occur at the two extremes of life. Owing to the more flexible and compressible nature of the trachea, children usually present with respiratory symptoms, in contrast to adults, who more often present with dysphagia.

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Unlabelled: Jaundice and pale stools are major indicators of neonatal liver disease. Prognosis depends on timely diagnosis and management. We evaluated the clinical practices among healthcare professionals concerning jaundiced newborns and their ability to recognize pale stools.

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Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia.

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