GAS PED - Artigos
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- Chondroepithelial Choristoma: A Rare Cause of Congenital Esophageal StenosisPublication . Marques dos Santos, F; Afonso, I; Soares, E; Carneiro, R
- Pneumonectomy in a Child with Necrotic Lung after Ingestion of a Button BatteryPublication . Stilwell, R; Silva, C; Alves, R; Afonso, I; Calvinho, P; Malta, AC
- Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune DysregulationPublication . Ouahed, J; Kelsen, JR; Spessott, WA; Kooshesh, K; Sanmillan, ML; Dawany, N; Sullivan, KE; Hamilton, KE; Slowik, V; Nejentsev, S; Farela Neves, J; Flores, H; Chung, WK; Wilson, A; Anyane-Yeboa, K; Wou, K; Jain, P; Field, M; Tollefson, S; Dent, MH; Li, D; Naito, T; McGovern, DPH; Kwong, AC; Taliaferro, F; Ordovas-Montanes, J; Horwitz, BH; Kotlarz, D; Klein, C; Evans, J; Dorsey, J; Warner, N; Elkadri, A; Muise, AM; Goldsmith, J; Thompson, B; Engelhardt, KR; Cant, AJ; Hambleton, S; Barclay, A; Toth-Petroczy, A; Vuzman, D; Carmichael, N; Bodea, C; Cassa, CA; Devoto, M; Maas, RL; Behrens, EM; Giraudo, CG; Snapper, SBBackground and aims: Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies of VEOIBD have been identified, many characterized by highly penetrant recessive or dominant variants in underlying immune and/or epithelial pathways. We sought to identify the genetic cause of VEOIBD in a subset of patients with a unique clinical presentation. Methods: Whole exome sequencing was performed on five families with ten patients who presented with a similar constellation of symptoms including medically refractory infantile-onset IBD, bilateral sensorineural hearing loss and, in the majority, recurrent infections. Genetic aetiologies of VEOIBD were assessed and Sanger sequencing was performed to confirm novel genetic findings. Western analysis on peripheral blood mononuclear cells and functional studies with epithelial cell lines were employed. Results: In each of the ten patients, we identified damaging heterozygous or biallelic variants in the Syntaxin-Binding Protein 3 gene [STXBP3], a protein known to regulate intracellular vesicular trafficking in the syntaxin-binding protein family of molecules, but not associated to date with either VEOIBD or sensorineural hearing loss. These mutations interfere with either intron splicing or protein stability and lead to reduced STXBP3 protein expression. Knock-down of STXBP3 in CaCo2 cells resulted in defects in cell polarity. Conclusion: Overall, we describe a novel genetic syndrome and identify a critical role for STXBP3 in VEOIBD, sensorineural hearing loss and immune dysregulation.
- Congenital Glucagon-like Peptide-1 Deficiency in the Pathogenesis of Protracted Diarrhea in Mitchell–Riley SyndromePublication . Nóbrega, S; Monteiro, MP; Pereira-da-Silva, L; Pereira, SS; Hartmann, B; Holst, JJ; Barbosa Silva, R; Cordeiro-Ferreira, GContext: Mitchell-Riley syndrome due to RFX6 gene mutations is characterized by neonatal diabetes and protracted diarrhea. The RFX6 gene encodes a transcription factor involved in enteroendocrine cell differentiation required for beta-cell maturation. In contrast to the pathway by which RFX6 mutations leads to diabetes, the mechanisms underlying protracted diarrhea are unknown. Objective: To assess whether glucagon-like peptide-1 (GLP-1) was involved in the pathogenesis of Mitchell-Riley syndrome protracted diarrhea. Methods: Two case report descriptions. in a tertiary pediatric hospital. "Off-label" treatment with liraglutide. We describe 2 children diagnosed with Mitchell-Riley syndrome, presenting neonatal diabetes and protracted diarrhea. Both patients had nearly undetectable GLP-1 plasma levels and absence of GLP-1 immunostaining in distal intestine and rectum. The main outcome was to evaluate whether GLP-1 analogue therapy could improve Mitchell-Riley syndrome protracted diarrhea. Results: "Off-label" liraglutide treatment, licensed for type 2 diabetes treatment in children, was started as rescue therapy for protracted intractable diarrhea resulting in rapid improvement during the course of 12 months. Conclusion: Congenital GLP-1 deficiency was identified in patients with Mitchell-Riley syndrome. The favorable response to liraglutide further supports GLP-1 involvement in the pathogenesis of protracted diarrhea and its potential therapeutic use.
- Autoimmune Pancreatitis with Associated Ulcerative Colitis in a TeenagerPublication . Gouveia, CI; Oliveira, L; Campos, AP; Cabral, JAutoimmune pancreatitis (AIP) is a rare entity that is extremely uncommon in children. Its diagnosis is also a clinical challenge. This form of chronic pancreatitis often presents itself with obstructive jaundice and/or a pancreatic mass and it is sometimes misdiagnosed as pancreatic cancer. We describe the case of a 13-year-old boy with obstructive jaundice and a 4 cm mass in the head of the pancreas that was diagnosed as AIP with associated ulcerative colitis.
- Ketogenic Diet and Drug-Induced Hepatotoxicity During Tuberculosis TreatmentPublication . Branco Caetano, F; Milheiro Silva, T; Gonçalves, C; Dias, AI; Brito, MJWhen therapy with hepatotoxic drugs is being considered, all other possible contributing agents of liver damage should be held to account. While not generally considered a risk factor, we present 2 cases in which ketogenic diet (KD) may have played a role in liver injury due to antituberculosis drugs. Ketogenic diet has been linked to liver injury, and while its pathophysiology remains obscure, carnitine depletion could play a role, as it is a mechanism of liver damage common to KD and antituberculosis drug regimens.
- Perivascular Epithelioid Cell Tumor: A Case Report of a Rare EntityPublication . Cardosa, MF; Ferreira de Lima, S; Knoblich, M; Afonso, I; Mendes, CPerivascular epithelioid cell tumor is a rare mesenchymal tumor with myomelanocytic differentiation. It mainly occurs in middle-aged females and can be found at any location. The differential diagnosis is broad but the immunohistochemical biomarkers establish the diagnosis. A 4-year-old girl was referred to a pediatric gastroenterology clinic due to recurrent umbilical pain and the workup revealed biliary lithiasis. She remained in follow-up, asymptomatic, no physical findings, and stable ultrasound. Six years later, a supra-umbilical mass was detected by ultrasound, and the magnetic resonance imaging revealed a highly vascularized intraperitoneal tumor with well-defined limits. Surgical mass resection was performed, and the histology revealed morphological and immunohistochemical aspects of a perivascular epithelioid cell tumor of the abdominal wall. Given the size of the lesion (> 5 cm) and admitting uncertain malignant potential, she was submitted to margin enlargement. Four years later, she remains asymptomatic without clinical or imagiological evidence of relapse.
- Helicobacter Pylori Infection in Pediatric Patients Living in Europe: Results of the EuroPedHP Registry 2013 to 2016Publication . Kori, M; Le Thi, TG; Werkstetter, K; Sustmann, A; Bontems, P; Lopes, AI; Oleastro, M; Iwanczak, B; Kalach, N; Misak, Z; Cabral, J; Homan, M; Cilleruelo Pascual, ML; Pehlivanoglu, E; Casswall, T; Urruzuno, P; Martinez Gomez, MJ; Papadopoulou, A; Roma, E; Dolinsek, J; Rogalidou, M; Urbonas, V; Chong, S; Kindermann, A; Miele, E; Rea, F; Cseh, A; Koletzko, SObjectives: The aim of the study was to assess clinical presentation, endoscopic findings, antibiotic susceptibility and treatment success of Helicobacter pylori (H. pylori) infected pediatric patients. Methods: Between 2013 and 2016, 23 pediatric hospitals from 17 countries prospectively submitted data on consecutive H. pylori-infected (culture positive) patients to the EuroPedHP-Registry. Results: Of 1333 patients recruited (55.1% girls, median age 12.6 years), 1168 (87.6%) were therapy naïve (group A) and 165 (12.4%) had failed treatment (group B). Patients resided in North/Western (29.6%), Southern (34.1%) and Eastern Europe (23.0%), or Israel/Turkey (13.4%). Main indications for endoscopy were abdominal pain or dyspepsia (81.2%, 1078/1328). Antral nodularity was reported in 77.8% (1031/1326) of patients, gastric or duodenal ulcers and erosions in 5.1% and 12.8%, respectively. Primary resistance to clarithromycin (CLA) and metronidazole (MET) occurred in 25% and 21%, respectively, and increased after failed therapy. Bacterial strains were fully susceptible in 60.5% of group A, but in only 27.4% of group B. Primary CLA resistance was higher in Southern and Eastern Europe (adjusted odds ratio [ORadj] = 3.44, 95% confidence interval [CI] 2.22-5.32, P < 0.001 and 2.62, 95% CI: 1.63-4.22, P < 0.001, respectively) compared with Northern/Western Europe. Children born outside Europe showed higher primary MET resistance (ORadj = 3.81, 95% CI: 2.25-6.45, P < 0.001). Treatment success in group A reached only 79.8% (568/712) with 7 to 14 days triple therapy tailored to antibiotic susceptibility. Conclusions: Peptic ulcers are rare in dyspeptic H. pylori-infected children. Primary resistance to CLA and MET is markedly dependent on geographical regions of birth and residence. The ongoing survey will show whether implementation of the updated ESPGHAN/NASPGHAN guidelines will improve the eradication success.
- Portuguese Prevalence of Pediatric Chronic Intestinal FailurePublication . Antunes, H; Nóbrega, S; Correia, M; Campos, AP; Silva, R; Guerra, P; Mourato, P; Lopes, AI; Mansilha, H; Tavares, M
- Portuguese Consensus on Diagnosis, Treatment, and Management of Anemia in Pediatric Inflammatory Bowel DiseasePublication . Lopes, AI; Azevedo, S; Cabral, J; Ferreira, MG; Sande-Lemos, P; Ferreira, R; Trindade, E; Lima, R; Antunes, HAnemia is a common extraintestinal manifestation of inflammatory bowel disease (IBD), both in pediatric and in adult patients. Iron deficiency is the main cause of anemia in patients with IBD. Anemia is a clinically relevant comorbidity, with impact on patients' quality of life and it should be timely diagnosed and adequately treated. Currently, an active treatment approach is the recommended strategy, with evidence showing efficacy and safety of intravenous iron formulations. However, evidence in pediatric age remains scarce and no clinical recommendations exist for the diagnosis and treatment of this particular age group. The present document represents the first national consensus on the management of anemia in pediatric IBD and is therefore particularly relevant. The authors anticipate that the proposed recommendations will be useful in daily clinical practice for diagnosing and managing iron deficiency and iron-deficiency anemia in the pediatric population with IBD.
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