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1.
J Pediatr Gastroenterol Nutr ; 77(2): 267-273, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-37477887

RESUMO

OBJECTIVES: The objective of this study is to determine whether jejunal nutrition by gastrojejunal tube (GJT) could be a therapeutic option for refractory gastroesophageal reflux disease (GERD), avoiding further antireflux surgery. METHODS: A monocentric retrospective study was conducted for all children <18 years who underwent GJT placement to treat GERD. We collected data at the first GJT placement, 5 months after last GJT withdrawal, and at the end of the follow-up (June 2021). RESULTS: Among 46 GERD patients with 86 GJT, 32 (69.6%) and 30 (65.2%) avoided antireflux surgery 5 and 28 months, respectively, after the definitive GJT removal. Five months after GJT removal, discharge from hospital, transition to gastric nutrition, GERD complications, and treatment were significantly improved. Median age and weight at the first GJT placement were 7 months and 6.8 kg. Patients had digestive comorbidities or complicated GERD in 69.6% and 76.1% patients, respectively. The median duration of jejunal nutrition using GJT was 64.5 days. GJT had to be removed in 63 (75.9%) cases for technical problems. CONCLUSIONS: Jejunal nutrition by GJT could be an alternative to antireflux surgery avoiding sustainably antireflux surgery in most of complicated GERD patients. The high frequency of mechanical complications raises that these devices should be technically improved.


Assuntos
Nutrição Enteral , Refluxo Gastroesofágico , Criança , Humanos , Nutrição Enteral/efeitos adversos , Intubação Gastrointestinal/efeitos adversos , Estudos Retrospectivos , Refluxo Gastroesofágico/cirurgia , Refluxo Gastroesofágico/etiologia , Jejuno/cirurgia , Resultado do Tratamento
2.
PLoS One ; 13(10): e0205826, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30365510

RESUMO

Mutations in interleukin-10 receptor (IL-10R) genes are one cause of very early-onset inflammatory bowel disease with perianal lesions, which can be cured by hematopoietic stem cell transplantation. Using a functional test, which assesses responsiveness of peripheral monocytes to IL-10, we identified three unrelated Portuguese patients carrying two novel IL-10RB mutations. In the three patients, sequencing of genomic DNA identified the same large deletion of exon 3 which precluded protein expression. This mutation was homozygous in two patients born from consanguineous families and heterozygous in the third patient born from unrelated parents. Microsatellite analysis of the IL10RB genomic region revealed a common haplotype in the three Portuguese families pointing to a founder deletion inherited from a common ancestor 400 years ago. In the third patient, surface expression of IL-10R was normal but signaling in response to IL-10 was impaired. Complementary DNA sequencing and next-generation sequencing of IL10RB locus with custom-made probes revealed a ≈ 6 Kb duplication encompassing the exon 6 which leads to a frameshift mutation and a loss of the TYK2-interacting Box 2 motif. Altogether, we describe two novel copy number variations in IL10RB, one with founder effect and one preserving cell surface expression but abolishing signaling.


Assuntos
Variações do Número de Cópias de DNA , Subunidade beta de Receptor de Interleucina-10/deficiência , Subunidade beta de Receptor de Interleucina-10/genética , Alelos , Motivos de Aminoácidos , DNA Complementar/genética , Éxons , Saúde da Família , Feminino , Efeito Fundador , Genoma Humano , Haplótipos , Heterozigoto , Homozigoto , Humanos , Lactente , Leucócitos Mononucleares/citologia , Masculino , Repetições de Microssatélites , Mutação , Portugal , Transdução de Sinais
3.
J Pediatr Gastroenterol Nutr ; 63(6): 627-632, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-26967823

RESUMO

OBJECTIVES: Intraduodenal hematoma (IDH) is an uncommon complication of endoscopic duodenal biopsy that can cause severe obstruction of the digestive, biliary, or pancreatic tracts. We aimed to analyze the risk factors and outcomes of biopsy-induced IDH in our series. METHODS: Between 2010 and 2014, a retrospective chart review was conducted for all children younger than 18 years of age treated for IDH. We collected their data in our tertiary pediatric center and compared them to those of controls matched for age, sex, and pathology. RESULTS: Among 2705 upper nontherapeutic endoscopies and 1163 duodenal biopsies, 7 IDH occurred in 6 children suspected of developing graft-versus-host disease (GVHD) after bone marrow transplantation (BMT) and in 1 patient with Noonan syndrome. The IDH prevalence was significantly higher after BMT compared to children who did not undergo grafting (7% vs 0.1%; P = 7.9 × 10; odds ratio = 82). After a median delay of 48 hours, patients developed intestinal obstruction with abdominal pain and vomiting. The diagnosis was confirmed by using ultrasonography or computed tomography scans. Acute pancreatitis was determined in 3 out of 7 patients. Conservative treatment allowed complete resolution in all patients. CONCLUSIONS: IDH is not an infrequent complication of endoscopic duodenal biopsy, especially in patients who undergo BMT. Endoscopists should be especially careful during the duodenal biopsy procedure in these patients. With no early perforation due to post-biopsy IDH reported, the prognosis is good and conservative management generally leads to resolution of the symptoms in 2 to 3 weeks.


Assuntos
Duodenopatias/etiologia , Duodeno/lesões , Endoscopia Gastrointestinal/efeitos adversos , Hematoma/etiologia , Obstrução Intestinal/etiologia , Adolescente , Biópsia/efeitos adversos , Transplante de Medula Óssea/efeitos adversos , Estudos de Casos e Controles , Criança , Pré-Escolar , Tratamento Conservador , Duodenopatias/diagnóstico por imagem , Duodeno/diagnóstico por imagem , Feminino , Hematoma/terapia , Humanos , Obstrução Intestinal/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Complicações Pós-Operatórias , Estudos Retrospectivos , Fatores de Risco , Tomografia Computadorizada por Raios X
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