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1.
Eur J Hum Genet ; 24(8): 1228-31, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-26733285

RESUMO

Idiopathic achalasia is a severe motility disorder of the esophagus and is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus. Most recently, we identified an eight-amino-acid insertion in the cytoplasmic tail of HLA-DQß1 as strong achalasia risk factor in a sample set from Central Europe, Italy and Spain. Here, we tested whether the HLA-DQß1 insertion also confers achalasia risk in the Polish and Swedish population. We could replicate the initial findings and the insertion shows strong achalasia association in both samples (Poland P=1.84 × 10(-04), Sweden P=7.44 × 10(-05)). Combining all five European data sets - Central Europe, Italy, Spain, Poland and Sweden - the insertion is achalasia associated with Pcombined=1.67 × 10(-35). In addition, we observe that the frequency of the insertion shows a geospatial north-south gradient. The insertion is less common in northern (around 6-7% in patients and 2% in controls from Sweden and Poland) compared with southern Europeans (~16% in patients and 8% in controls from Italy) and shows a stronger attributable risk in the southern European population. Our study provides evidence that the prevalence of achalasia may differ between populations.


Assuntos
Acalasia Esofágica/genética , Cadeias beta de HLA-DQ/genética , Mutagênese Insercional , Acalasia Esofágica/epidemiologia , Acalasia Esofágica/etnologia , Europa (Continente) , Feminino , Humanos , Masculino , Taxa de Mutação , Polimorfismo Genético , Prevalência , População Branca/genética
2.
Pancreatology ; 4(3-4): 215-22, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15148440

RESUMO

BACKGROUND/AIM: Reactive oxygen species play an important role in the pathogenesis of acute pancreatitis (AP) in animal models. Data on the oxidant-antioxidant balance in humans are scanty. The present study was undertaken to evaluate the dynamics of changes in the oxidant-antioxidant balance in the early phase of human AP. METHODS: 74 consecutive patients with acute biliary pancreatitis (16 with severe, 58 with mild pancreatitis), treated endoscopically, were included in the study. Serum concentrations of sulfhydryl groups (SH; main nonenzymatic antioxidant; 73 patients) and thiobarbituric acid reactive substances (TBARS; markers of reactive oxygen species-mediated tissue damage; 56 patients) were determined on admission and on each of 10 successive days. The analysis comprised the comparison of results in patients with mild and severe outcome of pancreatitis. RESULTS: Serum SH dropped by 27%, reaching the trough level on day 4 of hospitalization, whereas serum TBARS rose by 28%, reaching a peak 1 day later. Neither SH nor TBARS returned to initial values at the end of observation. The most dynamic changes in both SH and TBARS concentrations occurred in the first 3 days of hospitalization. The changes were significantly greater in patients with complicated pancreatitis in comparison to patients with mild disease, and were most pronounced in patients who developed infected pancreatic necrosis and who subsequently died. CONCLUSIONS: The oxidant-antioxidant balance changes rapidly in the early phase of human AP, confirming the role of oxidative stress in the pathogenesis of AP. The degree of changes correlates with the clinical severity of pancreatitis.


Assuntos
Antioxidantes/metabolismo , Doenças da Vesícula Biliar , Oxidantes/sangue , Pancreatite , Doença Aguda , Adulto , Idoso , Feminino , Doenças da Vesícula Biliar/sangue , Doenças da Vesícula Biliar/complicações , Doenças da Vesícula Biliar/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Pancreatite/sangue , Pancreatite/etiologia , Pancreatite/patologia , Compostos de Sulfidrila/sangue , Substâncias Reativas com Ácido Tiobarbitúrico/metabolismo
3.
Digestion ; 67(1-2): 25-31, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12743437

RESUMO

BACKGROUND: Although Helicobacter pylori is a significant etiologic factor of peptic ulcer disease, it remains unknown why ulcers develop only in the minority of infected individuals. AIM: The aim of this cross-sectional study was to evaluate the association between the presence of duodenal ulcer in H. pylori-infected patients and different risk factors. METHODS: A total of 122 H. pylori-infected patients were enrolled; 79 had duodenal ulcer and 43 gastritis. Univariate analysis was conducted using either Fisher's exact test or exact Cochrane-Armitage trend test. In multivariate analysis the logistic model was used. RESULTS: Univariate analysis indicated six factors (male sex, smoking, antral H. pylori density, CAGA presence in antrum, and VACA s1a presence in antrum and corpus). Four factors (sex, smoking-alcohol index, H. pylori density index, and CAGA index) were found to be significant in multivariate analysis. The best model predicting duodenal ulcer included male sex, smoking, presence of H. PYLORI on histopathology in antrum and CAGA presence in corpus. CONCLUSION: Although several risk factors were significantly associated with duodenal ulcer, we failed in the identification of either a single risk factor or a set of factors that can unequivocally differentiate patients with ulcer from those with gastritis.


Assuntos
Úlcera Duodenal/microbiologia , Infecções por Helicobacter/complicações , Helicobacter pylori/isolamento & purificação , Adolescente , Adulto , Idoso , Antígenos de Bactérias/análise , Proteínas de Bactérias/análise , Estudos Transversais , Úlcera Duodenal/diagnóstico , Úlcera Duodenal/epidemiologia , Feminino , Gastroscopia , Genótipo , Infecções por Helicobacter/diagnóstico , Infecções por Helicobacter/epidemiologia , Helicobacter pylori/genética , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Razão de Chances , Fatores de Risco , Fatores Sexuais
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