Pediatric Gallstone Disease - Management Difficulties In Clinical Practice.

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 aimed to analyze the difficulties in the work-up and management of pediatric GD patients. METHODS: A retrospective study performed in a single tertiary center enrolled sixty-five patients with GD followed from January 2014 to June 2021. Patients were categorized conveniently according to their age at diagnosis: Group A (< 10 years, n = 35) and Group B (≥ 10 years, n = 30). We analyzed demographic, clinical and laboratory data, ultrasonographic findings at presentation, therapeutics and complications. RESULTS: Symptoms were more frequent in patients > 10 years old (p = 0,001). Cholecystectomy was performed in 31 patients (47,7%). A multivariate regression logistic model identified the age > 10 years (OR = 6.440, p = 0.005) and underlying entities (OR = 6.823, p = 0.017) as independent variables to perform surgery. Spontaneous resolution of GD was more common in children < 2 years old. A multivariate regression logistic model showed a trend for those > 10 years old to develop more complications. Two out of 18 patients were diagnosed with ABCB4 gene mutations in heterozygosity. CONCLUSIONS: Decision-making on cholecystectomy remains challenging in asymptomatic patients. Identifying predictive factors for the development of complications has proven difficult. However, we found a trend toward the development of complications in individuals older than 10 years.

Drug-Related Adverse Reactions in Pediatric Inflammatory Bowel Disease.

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. Ninety-nine patients were included (62.6% were male), with a median age at diagnosis of 13 years (interquartile range [IQR] 11-15 years). The majority had Crohn's disease (69.7%), followed by ulcerative colitis (21.2%) and unclassified IBD (9.1%). The most prescribed therapies were: immunomodulators (n = 75, 75.8%), exclusive enteral nutrition (n = 61, 61.6%), and biologics (n = 58, 58.6%). During a median follow-up time of 31 months (IQR 11-51 months), the incidence of ARs was 16.2% (16 ARs occurred in 14 patients). The main drug involved was azathioprine (12/16) and the most frequent AR was hepatitis (5/16). Drug discontinuation was necessary in all but 1 case. Of the ARs recorded, 75% were mild to moderate and 81.3% did not require specific treatment; all patients had clinical and/or analytical normalization. There was a positive association between the cumulative number of prescribed drugs and the occurrence of ARs (P = .044). The incidence of ARs was similar to the rates reported in the few existing previous studies. The majority of ARs were mild, but implied the discontinuation of therapy or dose reduction, with a possible impact on disease control.

Dysphagia lusoria: uncommon cause of dysphagia in children

No disponible

Helicobacter pylori antimicrobial resistance in a pediatric population.

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. MATERIAL AND METHODS: Prospective cohort study of H. pylori infected patients (positive histological or cultural exams) treated at Centro Materno-Infantil do Norte from January of 2013 to October of 2017. Susceptibility to 4 antibiotics: amoxicilin, metronidazole, clarithromycin, and levofloxacin were analyzed by E-test (phenotypic resistance). The E-test was chosen because it is simple and cost-effective for routine susceptibility testing. Point mutations that confer clarithromycin resistance were surveyed (genotypic resistance). Eradication of H. pylori infection was defined by a negative urea breath test or fecal antigen 6-8 weeks after the end of treatment. RESULTS: Of a total of 74 H. pylori infected patients, 16 were excluded because they had previous H. pylori treatment or severe systemic disease. Median age of infection cases was 15 years (3-17 years). Eradication regimen used in all patients combined the use of 3 antibiotics (amoxicillin and metronidazole or clarithromycin) and proton pump inibhitor for 14 days and was tailored according antimicrobial susceptibility. 79.5% of the patients completed the treatment. The resistance rate for metronidazole and clarithromycin was 3.3% and 23.3%, respectively. There was no resistance for amoxicilin and levofloxacin. The rate of genotypic resistance to clarithromycin was 37.2%. The eradication rate was 97.8%. CONCLUSIONS: The authors found a high resistance rate of H. pylori for clarithromycin in this northern portuguese pediatric center. This factor should determine a change in local current treatment, contraindicating the use of clarithromycin as a first-line treatment for H. pylori infection in children. The high eradication rate maybe explained for the eradication treatment tailored according antimicrobial susceptibility.

A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.

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. A novel mutation in the RAF1 gene was identified: c.782C>G (p.Pro261Arg) in heterozygosity, not described previously in the literature. Consequently, the common clinical course in this mutation and its respective contribution to the early fatal outcome is unknown. No conclusion can be established regarding genotype/phenotype correlation.