RESUMO
Diacylglycerol O-acyltransferase 1 deficiency is a recently discovered, rare congenital diarrheal disorder. We report 2 patients with newly described pathogenic mutations in diacylglycerol O-acyltransferase 1 with compound heterozygous inheritance and unusual phenotypes. This included a macrophage activation syndrome-like response seen in one patient, ameliorated with low dietary fat.
Assuntos
DNA/genética , Diacilglicerol O-Aciltransferase/genética , Diarreia/genética , Mutação , Biomarcadores/sangue , Análise Mutacional de DNA , Diacilglicerol O-Aciltransferase/sangue , Diarreia/sangue , Diarreia/enzimologia , Humanos , Recém-Nascido , MasculinoRESUMO
Inflammation of the pancreas has many presentations in children and adolescents. The etiology is often elusive, with a great number of cases being idiopathic. However, there have been a number of recent advances in the areas of cell biology, genetics and imaging technology, which should be highlighted. Herein is provided a review for the reader with particular emphasis on some of these newer advances.
Assuntos
Pancreatite , Doença Aguda , Adolescente , Algoritmos , Criança , Doença Crônica , Diagnóstico por Imagem , Humanos , Pancreatite/diagnóstico , Pancreatite/etiologia , Pancreatite/fisiopatologia , Pancreatite/terapiaRESUMO
N-Acetylcysteine (NAC), being both a mucolytic agent and a thiol-containing antioxidant, may affect the establishment and maintenance of H. pylori infection within the gastric mucus layer and mucosa. Agar and broth dilution susceptibility tests determined the MIC of H. pylori strain SSI to NAC. H. pylori load in SSI strain-infected C57BL mice was determined as colony forming units per gram of gastric tissue. Gastritis assessment was scored and gastric surface hydrophobicity was determined by contact angle measurement. MICs of NAC were 5 to 10 and 10 to 15 mg/ml using the agar dilution and broth dilution methods, respectively. NAC (120 mg per day for 14 days) reduced the H. pylori load in mice by almost 1 log compared with sham treatment. Pretreatment with NAC (40 mg/day) also significantly reduced the H. pylori load but did not prevent H. pylori colonization. Both H. pylori infection and NAC reduced the surface hydrophobicity of murine gastric mucosa. No significant differences were observed in the gastritis scores of H. felis- or H. pylori-infected mice receiving either NAC or sham treatments. This study demonstrates that NAC inhibits the growth of H. pylori in both agar and broth susceptibility tests and in H. pylori-infected mice. NAC did not alter the severity of H. pylori- or H. felis-induced gastritis.
