RESUMO
BACKGROUND AND AIMS: An association between Budd-Chiari syndrome (BCS) and celiac disease (CD) is uncommon. The aims of our study were to investigate the etiology of BCS and to search for a particular HLA Ag pattern among patients. PATIENTS AND METHODS: BCS diagnosis was based on Doppler ultrasound and CD diagnosis on duodenal biopsy, transglutaminase (TGAb) and gliadin antibodies (GAb). Patients were screened for prothrombotic disorders and seven had a PCR-SSO test for HLA genotypes. Patients were treated with anticoagulants and gluten-free diet. RESULTS: Nine patients were included; mean age 27 years (20-42); sex ratio (F/M) 2; mean follow-up duration 31 months (6-54). All patients had endoscopic and histological features of CD. GAb/TGAb were found in 78 % (n=7). Ag HLA found were HLA DQß1(*)02 (n=6) and DQß1(*)03 (n=3). Prothrombotic conditions identified were latent myeloproliferative disorder (n=1), protein C deficiency (n=1), probable factor V Leiden (n=1) and oral contraceptive use (n=1). No prothrombotic state could be identified in the five other patients. CONCLUSION: The BCS-CD association is relatively frequent in our country. Underlying prothrombotic conditions were absent in more than 50 % of cases, suggesting CD plays a role in the occurrence of thrombosis. HLA alleles found are strongly associated with CD, without any particular pattern for the BCS-CD association.
Assuntos
Síndrome de Budd-Chiari/complicações , Síndrome de Budd-Chiari/diagnóstico , Doença Celíaca/complicações , Doença Celíaca/diagnóstico , Adulto , Anticorpos/sangue , Anticoagulantes/uso terapêutico , Biomarcadores/sangue , Síndrome de Budd-Chiari/sangue , Síndrome de Budd-Chiari/imunologia , Síndrome de Budd-Chiari/terapia , Doença Celíaca/sangue , Doença Celíaca/imunologia , Doença Celíaca/terapia , Dieta Livre de Glúten , Feminino , Seguimentos , Gliadina/sangue , Antígenos HLA-DQ/sangue , Humanos , Masculino , Fatores de Risco , Transglutaminases/sangueRESUMO
The T300A variant is among the most Crohn's disease (CD) associated genetic variants. The aim of our study is to bring a first insight about the contribution of the T300A variant in a cohort of Algerian CD. In a case/control design, 118 Algerian CD patients and 161 unrelated healthy subjects were genotyped for the T300A variant using the allelic discrimination test by Applied Biosystems Taqman® genotyping technology. A serological analysis was carried out using Biosystems™ ELISA kit for the assessment of the anti-Saccharomyces cerevisiae antibodies and immunofluorimetry via Luminex® technology for the evaluation of cytokine levels (TNFα, IFNγ, IL-6 and IL-17). The comparison between allelic and genotypic frequencies was performed using the χ2 test and the exact Fischer test. The odds ratio (OR) was noted adopting confidence interval of 95%. The comparison between the averages was carried out by the Mann-Whitney and Kruskal-Wallis tests. A factorial discriminant analysis and a binary logistic regression were performed as further analyses. The T300A variant showed an increased risk of CD within homozygous variant carriers (P=0.027). Moreover, the carriage of the G allele was associated with the early onset of CD (P=0.01) and a severe CD impairment (P=0.045). We were not able to comfort the association of the T300A variant and ASCA IgA, ASCA IgG and IFNγ levels detected at the univariate analysis. Our results suggest a possible association between the T300A variant and CD in this cohort of Algerian CD patients. Moreover, this variant might be incriminated in the early onset of CD and a severe disease impairment. At the serological study, the univariate and the multivariate analyses yielded contradictory results. Further investigations of larger cohorts of Algerian CD are needed to better assess the suggested associations at the present study.
Assuntos
Proteínas Relacionadas à Autofagia/genética , Doença de Crohn/genética , Mutação de Sentido Incorreto , Adolescente , Adulto , Idade de Início , Alanina/genética , Argélia/epidemiologia , Substituição de Aminoácidos , Estudos de Casos e Controles , Estudos de Coortes , Doença de Crohn/epidemiologia , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Índice de Gravidade de Doença , Treonina/genética , Adulto JovemRESUMO
The molecular pathogenesis of hepatocellular carcinoma, a tumour characterized by a vast clinical heterogeneity, remains unexplored outside Europe and Eastern Asia. We analysed by direct sequencing or loss of heterozygosity assay, the common targets of genomic alterations in 42 hepatocellular carcinomas collected in western North-Africa. Overall, genomic instability was uncommon, allelic losses affecting mostly chromosomes 1p, 4q, 8p and 17p (24-28% of cases). CTNNB1 and TP53 were infrequently mutated (9 and 17% of cases, respectively). Surprisingly, TP53 mutation R249S, diagnostic of aflatoxin B1 exposure, usually frequent in Africa, was exceptional (one case), indicating that in western North-Africa, hepatocellular carcinoma genetics differs markedly from that of the remainder of the continent.
Assuntos
Carcinoma Hepatocelular/genética , Instabilidade Genômica , Neoplasias Hepáticas/genética , Adulto , Idoso , Carcinoma Hepatocelular/epidemiologia , Feminino , Genes p53/genética , Heterogeneidade Genética , Humanos , Neoplasias Hepáticas/epidemiologia , Perda de Heterozigosidade , Masculino , Pessoa de Meia-Idade , Marrocos/etnologia , Mutação , Tunísia/etnologia , beta Catenina/genéticaRESUMO
INTRODUCTION: In the absence of cadaveric grafts, a living donor liver transplant program was started in Algeria in February 2003. The aim of this study is to report the preliminary results. PATIENTS AND METHODS: From February 2003 to September 2004, eight adult-to-adult living related liver transplantations were performed. The donors were six women and two men of mean age of 25 years (range, 18 to 48 years). Right hepatectomy was performed in seven patients and left hepatectomy in one patient. The recipients were four women and four men of mean age 33 years (range, 16 to 56 years). Follow-up ranged from 1 month to 18 months (median 7 months). RESULTS: All donors survived the procedure. In the immediate postoperative period, two donors experienced complications. One donor underwent reoperation for hemorrhage and one suffered partial portal vein thrombosis, which was treated medically. The eight donors are alive at home without any late complications. One recipient died on postoperative day 43 due to sepsis. Among the seven other recipients, two experienced complications: one bilioma in relation to a biliary-intestinal fistula and one thrombosis of the splenic vein with a left portal embolus. At present the seven recipients are alive with normal liver function and without complications. CONCLUSION: Our results are comparable to other reports suggesting that adult-to-adult living related liver transplantation is feasible with no mortality and low morbidity in donors. However, it is important to develop a cadaveric liver transplant program.