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1.
Tunis Med ; 91(12): 685-92, 2013 Dec.
Artigo em Francês | MEDLINE | ID: mdl-24458670

RESUMO

BACKGROUND: The systematic evaluation of the quality of life is essential in the management of patients with chronic bowel disease ( IBD) inflammatory diseases. AIM: Translate in Tunisian Arabic dialect the English version of «inflammatory bowel disease questionnaire¼ (UK- IBDQ ) and validated by studying its psychometric validity, discriminative ability, reliability and sensitivity to change. METHODS: 80 Tunisian patients with IBD completed the Tunisian version of the IBDQ (T- IBDQ ) , a visual analog scale , the SF- 36, the Harvey- Bradshaw index for Crohn's disease , and the index Simple clinical colitis activity for ulcerative colitis. RESULTS: The T- IBDQ included in the final version 5 fields. The internal validity of the items was satisfactory for all patients. TIBDQ was correlated with scores of SF- 36, visual analog scale scores and indices of activity of IBD. T- IBDQ distinguish between active disease and inactive disease . He was also sensitive to changes in disease activity . CONCLUSION: We validated in this work a Tunisian dialect Arabic version of the IBDQ : T- IBDQ . Its validity, discriminative ability , reliability and sensitivity to change were demonstrated.


Assuntos
Doenças Inflamatórias Intestinais/psicologia , Idioma , Qualidade de Vida , Inquéritos e Questionários , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doença Crônica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Psicometria , Reprodutibilidade dos Testes , Inquéritos e Questionários/normas , Tradução , Tunísia , Adulto Jovem
2.
Future Sci OA ; 9(9): FSO886, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37752918

RESUMO

Aim: The aim of this study was to assess the value of routine screening for renal damage in cases of B viral infection, by looking for proteinuria and elevated creatinemia. Materials & methods: We investigate the frequency and associated factors of renal impairment in patients with viral B hepatopathy. Results: Pathological albuminuria was confirmed in 44.73%. The chronic kidney disease with slightly decreased filtration rate was found in 21.05%. In multivariate analysis, only BMI was an independent factor for pathological albuminuria (p = 0.013) and only age was an independent predictor of chronic kidney disease (p = 0.056). Conclusion: Urine dipstick and creatinemia are useful for routine screening in viral B hepatopathy especially in the elderly and overweight.

3.
Ann Dermatol Venereol ; 137(3): 198-202, 2010 Mar.
Artigo em Francês | MEDLINE | ID: mdl-20227562

RESUMO

BACKGROUND: Cutaneous metastasis of colorectal cancer is rare. We report a case of fistular lesions of the buttocks revealing a mixed tumour of the appendix involving mucinous cystadenocarcinoma and carcinoid tumour. CASE REPORT: A 67-year-old woman was admitted for four skin fistulae of the right buttock present for 6 years. Histological examination of skin biopsy specimens identified infiltration of the dermis by metastatic mucinous adenocarcinoma while colonoscopy showed a caecal tumour measuring 4 cm. Surgical excision was performed involving right hemicolectomy, evacuation of retroperitoneal mucin collection and excision of fistulae. Histopathological examination of surgical specimen confirmed mixed tumour consisting of perforated mucinous cystadenocarcinoma and carcinoid tumour of the appendix. Recurrence of the fistular lesions was seen. The patient was hospitalized several times for surgical drainage of mucin. She died one year later. DISCUSSION: Cutaneous metastasis of colorectal cancer is an uncommon event that usually occurs after identification of the primary tumour and generally indicates advanced-stage disease and an ominous prognosis. This case is particular and underlines the need to rule out a metastatic origin of cutaneous fistulae, even in patients otherwise apparently in good health.


Assuntos
Neoplasias do Apêndice/patologia , Neoplasias do Ceco/patologia , Fístula Cutânea/etiologia , Cistadenocarcinoma Mucinoso/patologia , Neoplasias Primárias Múltiplas/patologia , Idoso , Tumor Carcinoide/patologia , Fístula Cutânea/patologia , Cistadenocarcinoma Mucinoso/secundário , Feminino , Humanos , Neoplasias Cutâneas/secundário
4.
Cancer Radiother ; 13(1): 61-4, 2009 Jan.
Artigo em Francês | MEDLINE | ID: mdl-19101191

RESUMO

The mucosa-associated lymphoid tissue (MALT) lymphoma is a distinct clinical pathologic entity that develops in diverse anatomic locations such as the stomach, salivary gland, thyroid, lung, skin and breast. However, colorectal involvement is extremely rare. To our knowledge, only ten cases of primary rectal MALT lymphoma have been reported in the literature. We report a 46-year-old woman with rectal MALT lymphoma, which regressed after radiotherapy. The patient had rectal bleeding. Colonoscopy showed a pseudonodular and ulcerated big fold in the rectum. Microscopic and immunohistologic studies of the biopsy specimen showed typical features of low grade MALT lymphoma. Upper endoscopy showed chronic gastritis with lymphoid follicles but without any infiltration of lymphoma cells. Helicobacter pylori infection was confirmed by histology. No extra-intestinal involvement was found on the staging evaluation, which included computed tomography (CT) of the abdomen, chest, pelvis and a bone marrow biopsy. We attempted to eradicate H. pylori with a 7-day course of omeprazole, amoxycillin, and metronidazole. Eradication was proved successful by endoscopy. Repeated colonoscopy 4 months after the end of treatment showed that the rectal tumor had not regressed. Biopsy specimens confirmed the persistent infiltration of lymphoma cells. The patient was considered to be a non-responder to eradication therapy and was indicated for radiotherapy. He underwent a total of 34 Gy. Complete regression was confirmed by colonoscopic and histologic examination at 2 months after the end of treatment. He was followed up closely with colonoscopy, but no relapse of these lesions was detected after 12 months.


Assuntos
Linfoma de Zona Marginal Tipo Células B/radioterapia , Neoplasias Retais/radioterapia , Biópsia , Doença Crônica , Colonoscopia , Feminino , Gastrite/complicações , Gastrite/diagnóstico , Gastrite/tratamento farmacológico , Hemorragia Gastrointestinal/etiologia , Infecções por Helicobacter/complicações , Infecções por Helicobacter/diagnóstico , Infecções por Helicobacter/tratamento farmacológico , Helicobacter pylori , Humanos , Imuno-Histoquímica , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Linfoma de Zona Marginal Tipo Células B/etiologia , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Seleção de Pacientes , Dosagem Radioterapêutica , Doenças Raras , Doenças Retais/etiologia , Neoplasias Retais/diagnóstico , Neoplasias Retais/etiologia , Resultado do Tratamento
5.
Rev Med Interne ; 30(3): 215-20, 2009 Mar.
Artigo em Francês | MEDLINE | ID: mdl-19131144

RESUMO

INTRODUCTION: The aim of this study was to determine the epidemiological, clinical and therapeutic features, and the outcome of peritoneal tuberculosis in an endemic area of tuberculosis on the basis of our experience. METHODS: All cases of peritoneal tuberculosis confirmed by histologic examination and hospitalized in the department of gastroenterology of Hedi-Chaker hospital between January 1987 and December 2006 were analyzed retrospectively. RESULTS: Forty-two cases (mean age 38 years) were included in this study. Clinical presentation was dominated by ascites (100%), fever (76.2%) and abdominal pain (73.8%). The average delay for consultation after the first symptom was 3.6 months. The ascites was exudative in 100% of cases with lymphocytic predominance in 96.6%. The tuberculous skin test was above 10mm in 39.1% of cases. All of our patients had a peritoneal exploration. A nodular aspect of the peritoneal cavity was found in 40 patients (95.2%). Adhesions were noted in 25 patients. Therapeutic protocols varied among years. The outcome was favorable in all patients. CONCLUSION: Diagnosing peritoneal tuberculosis is a challenge for clinicians. Coelioscopy with peritoneal biopsies still remains the method of choice to establish a definite diagnosis of peritoneal tuberculosis.


Assuntos
Peritonite Tuberculosa , Adulto , Fatores Etários , Idoso , Antituberculosos/administração & dosagem , Antituberculosos/uso terapêutico , Ascite/etiologia , Biópsia , Feminino , Seguimentos , Humanos , Laparoscopia , Masculino , Pessoa de Meia-Idade , Peritônio/patologia , Peritonite Tuberculosa/diagnóstico , Peritonite Tuberculosa/tratamento farmacológico , Peritonite Tuberculosa/epidemiologia , Peritonite Tuberculosa/patologia , Estudos Retrospectivos , Fatores Sexuais , Fatores de Tempo , Resultado do Tratamento , Teste Tuberculínico , Tunísia/epidemiologia
6.
Ann Cardiol Angeiol (Paris) ; 67(2): 98-100, 2018 Apr.
Artigo em Francês | MEDLINE | ID: mdl-29602443

RESUMO

Vitamin K antagonists (VKA) are difficult to use because of a narrow therapeutic index and of a marked inter- and intra-individual variability among patients in the required dosage. This drug may interact with many other drugs and same with certain food compounds. We report the case of potential interaction between soy lecithin and Vitamin K antagonists in a 46 years-old woman. Subtherapeutic INR values were detected despite the increase gradually in dose and replacing acenocoumarol by fluindione. An enquiry of pharmacovigilance was conducted found the consumption of soy lecithin capsules. Fifteen days after its stopping, the INR values have really increased. Clinicians should think to the possibility of interaction between oral anticoagulants and food supplement that is increasingly used.


Assuntos
Anticoagulantes/farmacologia , Resistência a Medicamentos , Glycine max , Lecitinas/farmacologia , Tensoativos/farmacologia , Vitamina K/antagonistas & inibidores , Vitamina K/farmacologia , Administração Oral , Anticoagulantes/administração & dosagem , Feminino , Interações Alimento-Droga , Humanos , Coeficiente Internacional Normatizado , Lecitinas/administração & dosagem , Pessoa de Meia-Idade , Tensoativos/administração & dosagem
8.
Pathologica ; 109(4): 371-374, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29449725

RESUMO

Kaposi sarcoma is an unusual tumor associated to a human herpes virus-8 infection involving the skin or internal organs. Iatrogenic Kaposi's sarcoma often occurs in patients receiving immunosuppressive therapy. So far, a few Kaposi's sarcoma cases have been reported in the literature associated with inflammatory bowel diseases. We report a 53-year-old male diagnosed with a severe refractory ulcerative colitis who was treated with corticosteroids and azathioprine. The patient underwent a colectomy after the failure of medical treatment. Histological examination of the colon showed findings suggestive of Kaposi's sarcoma. Immunohistochemistry for human herpes virus-8 was positive in the colonic lesions. Correspondence.


Assuntos
Colite Ulcerativa/tratamento farmacológico , Neoplasias Colorretais/diagnóstico , Herpesvirus Humano 8/isolamento & purificação , Sarcoma de Kaposi/diagnóstico , Corticosteroides/uso terapêutico , Azatioprina/uso terapêutico , Colectomia , Colite Ulcerativa/patologia , Colite Ulcerativa/cirurgia , Neoplasias Colorretais/patologia , Neoplasias Colorretais/cirurgia , Herpesvirus Humano 8/genética , Humanos , Doença Iatrogênica , Imuno-Histoquímica , Terapia de Imunossupressão , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Sarcoma de Kaposi/patologia , Sarcoma de Kaposi/cirurgia
9.
Rev Epidemiol Sante Publique ; 47(6): 585-91, 1999 Dec.
Artigo em Francês | MEDLINE | ID: mdl-10673592

RESUMO

BACKGROUND: The proportional hazards model proposed by Cox for modeling censored data is not suited for correlated delays, for instance when several events can be observed on each subject. METHODS: To analyze correlated delays, we propose to use a log-linear marginal model equivalent to Cox model. Correlations are taken into account through the use of Liang and Zeger's Generalized Estimating Equations (GEE) and of their robust variance estimator. An advantage of this method is that it can be implemented through the SAS GENMOD procedure. When ties are observed, we propose to use multiple imputations, creating M data sets without ties from the original one. RESULTS: This method is applied to a retrospective survey on the risk of withdrawing totally implantable vascular access devices (TIVAD) because of complication in cystic fibrosis patients: 265 TIVAD implanted in 200 patients were observed. Risk factors were characteristics of the device or of the patient. Results obtained with the robust variance estimator and ten imputations show that the use of the device for taking blood (vs exclusive perfusion of antibiotics), polyurethane catheter (vs. silicon), use of counterpressure for upkeeping and pulmonary colonization by Pseudomonas Aeruginosa are significantly associated to withdrawal. Under the Cox model which does not account for the correlations, some conclusions differ because the robust variance of the estimators is smaller than the variance obtained under the working assumption of independent delays. CONCLUSION: This approach allows the modeling of correlated survival data with SAS software. Our results illustrate the necessity of accounting for existing correlations.


Assuntos
Cateteres de Demora/estatística & dados numéricos , Fibrose Cística/terapia , Modelos Estatísticos , Humanos , Fatores de Risco
10.
Rev Med Interne ; 21(10): 893-6, 2000 Oct.
Artigo em Francês | MEDLINE | ID: mdl-11075398

RESUMO

INTRODUCTION: Esophageal involvement in Hodgkin's disease, commonly known as a belated localization of the advanced forms, has been seldom reported (3 to 5% in post-mortem series and 0.7% in clinical series). EXEGESIS: We report the case of a 61-year-old man who had an esophagus localization revealing Hodgkin's disease stage IV EBb of Ann Arbor classification. The originality of this case was represented by: the revelation mode of the esophageal involvement such as dysphagia and upper gastrointestinal bleeding; the localization at the distal third of the esophagus with contiguous involvement of the gastric fundus; the absence of mediastinal nodes showing the primitive character of the esophageal injury. CONCLUSION: This observation incites us to consider Hodgkin's disease in the list of differential diagnoses of tumoral dysphagia, even if there was no ganglionic and/or visceral localization of the disease.


Assuntos
Transtornos de Deglutição/etiologia , Doenças do Esôfago/etiologia , Neoplasias Esofágicas/complicações , Neoplasias Esofágicas/patologia , Hemorragia Gastrointestinal/etiologia , Doença de Hodgkin/complicações , Doença de Hodgkin/patologia , Anemia Hipocrômica/etiologia , Caquexia/etiologia , Diagnóstico Diferencial , Neoplasias Esofágicas/classificação , Neoplasias Esofágicas/tratamento farmacológico , Esofagoscopia , Evolução Fatal , Doença de Hodgkin/classificação , Doença de Hodgkin/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias
11.
Ann Endocrinol (Paris) ; 62(3): 235-8, 2001 Jun.
Artigo em Francês | MEDLINE | ID: mdl-11458176

RESUMO

Abnormal liver function in thyroid disorders may be secondary to thyrotoxicosis or to autoimmune injury to the liver. We report the case of a 36-year-old female who developed jaundice and pruritus with mild cholestasis and moderately elevated transaminase levels. The diagnosis of Graves' disease was made shortly thereafter. Laboratory findings were: alanine and aspartate aminotransferase 219 (IU/I (N: 9-50) and 102 IU/I (N: 10-15) respectively, alkaline phosphatase 336 IU/I (N: 40-135), bilirubin 24 micromol/I (N: 2-23), and gamma-glutamyl transpeptidase 232 IU/I (N: 9-43). Abdominal ultrasonography showed normal bile ducts; echocardiography ruled out heart failure; viral and autoimmune markers for hepatitis and cirrhosis were negative. Percutaneous liver biopsy showed moderate intrahepatic steatosis, anisokaryosis, lymphocyte infiltration in the portal areas, and Kupffer cell hyperplasia. Outcome was favorable after seven months of iodine therapy, confirming the diagnosis of thyrotoxicosis hepatitis.


Assuntos
Hepatopatias/etiologia , Tireotoxicose/complicações , Adulto , Alanina Transaminase/sangue , Fosfatase Alcalina/sangue , Aspartato Aminotransferases/sangue , Bilirrubina/sangue , Biópsia , Fígado Gorduroso/patologia , Feminino , Doença de Graves/complicações , Humanos , Hiperplasia , Células de Kupffer/patologia , Fígado/patologia , Hepatopatias/diagnóstico , Hepatopatias/patologia , Linfócitos/patologia , Ultrassonografia , gama-Glutamiltransferase/sangue
12.
Ann Dermatol Venereol ; 128(2): 141-3, 2001 Feb.
Artigo em Francês | MEDLINE | ID: mdl-11275592

RESUMO

BACKGROUND: Cutaneous metastases from gastric carcinoma are uncommon and are exceptionally the first sign of disease. CASE REPORT: A 33-year-old man presented with nodular lesions that had developed three months earlier on the trunk, scalp and limbs. A skin biopsy suggested a metastatic origin. The upper digestive fibroscopy with biopsy demonstrated gastric linitis. Due to the presence of bone metastasis, treatment was not initiated, the patient died four months later. DISCUSSION: Metastatic dissemination of gastric carcinoma to the skin usually occurs in advanced stage disease. Generally, the skin lesions are painless hard nodules on the anterior abdominal wall. Our patient developed unusual inaugural skin metastases with an exceptional localization.


Assuntos
Linite Plástica/secundário , Neoplasias Cutâneas/secundário , Neoplasias Gástricas/patologia , Adulto , Biópsia , Neoplasias Ósseas/secundário , Evolução Fatal , Gastroscopia , Humanos , Masculino
14.
Tunis Med ; 79(8-9): 434-40, 2001.
Artigo em Francês | MEDLINE | ID: mdl-11774785

RESUMO

In order to determine the sensitivity of CEA in the diagnosis of colo-rectal carcinoma, we studied a series of 48 patients with colo-rectal carcinoma (1992-1996). The sensitivity was at 52% with a reference value of 5 ng/ml and 68.7% for a reference value of 2.5 ng/ml. With a reference value of 5 ng/ml, the sensitivity of CEA was at 37% only for patients with colo-rectal carcinoma at Dukes B stage, 66.6% for patients at stage C and 75% for patients at stage D. The dosage of CEA was carried out with a sandwich immunoenzymatic technique in tube. There is no statistic significant correlation between the pre-operative rate of CEA and the localisation of the tumor and its histologic type; in contrast, it was significantly correlated with the ganglionnary metastasis. A significant relationship between the pre-operative rate of CEA and the Dukes stage was found for a reference value of 10 ng/ml but not for a reference value of 5 ng/ml. We calculated the specificity of the CEA for the cancers of colon and rectum which was at 76.98% with a reference value of 5 ng/ml and 86% with a reference value of 10 ng/ml.


Assuntos
Antígeno Carcinoembrionário/análise , Neoplasias Colorretais/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Colorretais/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Estadiamento de Neoplasias , Valor Preditivo dos Testes , Prognóstico , Valores de Referência , Sensibilidade e Especificidade
15.
Arch Pediatr ; 21(10): 1123-6, 2014 Oct.
Artigo em Francês | MEDLINE | ID: mdl-25169807

RESUMO

Distinguishing intestinal tuberculosis from Crohn disease is difficult and can result in misdiagnosis, especially when active pulmonary infection is absent. A 13-year-old girl was admitted to our hospital with a 2-month history of watery diarrhea, abdominal pain, and 12-kg weight loss. Based on clinical, radiological, endoscopic, and histological findings, she was initially misdiagnosed as having Crohn disease and treated with glucocorticosteroids, with a poor response after 4 weeks. Intestinal tuberculosis was then suspected. Improvement was observed during the 1st week of antituberculous treatment. The differentiation of intestinal tuberculosis from Crohn disease may be very difficult in some patients. A positive response to antituberculous treatment associated with clinical, endoscopic, and histological features argue in favor of the diagnosis of intestinal tuberculosis.


Assuntos
Doenças do Colo/diagnóstico , Doenças do Íleo/diagnóstico , Tuberculose Gastrointestinal/diagnóstico , Dor Abdominal/etiologia , Adolescente , Doença de Crohn/diagnóstico , Erros de Diagnóstico , Diarreia/etiologia , Feminino , Humanos , Redução de Peso
16.
Arch Pediatr ; 20(12): 1325-8, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24182664

RESUMO

BACKGROUND: Overlap syndrome of autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC) is considered when the patient presents with the diagnostic criteria of both diseases at some stage of the medical history, either simultaneously or consecutively. AIM: To report on a new case of overlap syndrome and describe the clinical presentation, progression, radiological studies, histological characteristics, and therapeutic options of this rare association. CASE REPORT: A 10-year-old boy presented with jaundice and hepatosplenomegaly. Levels of plasma aminotransferases, gamma-glutamyl transferase, serum alkaline phosphatase and gammaglobulins were elevated. Anti-liver cytosol and perinuclear antineutrophilic cytoplasmic antibodies were positive. Liver biopsy showed features of interface hepatitis with ductopenia. Magnetic resonance cholangiography revealed bile duct stenosis and dilations. Serological findings associated with radiological and histological features confirmed the diagnosis of overlap syndrome of AIH with PSC. Treatment with prednisone, azathioprine, and ursodeoxycholic acid led to a good response. CONCLUSION: The possibility of AIH-PSC overlap syndrome should be considered in all children with AIH and, with clinical, biochemical, or histological signs of PSC, complementary investigations should be done to confirm the diagnosis so as to urgently initiate appropriate treatment with immunosuppressive medication and ursodeoxycholic acid.


Assuntos
Colangite Esclerosante/diagnóstico , Hepatite Autoimune/diagnóstico , Fosfatase Alcalina/sangue , Azatioprina/uso terapêutico , Biomarcadores/sangue , Criança , Colagogos e Coleréticos/uso terapêutico , Colangite Esclerosante/sangue , Colangite Esclerosante/tratamento farmacológico , Quimioterapia Combinada , Glucocorticoides/uso terapêutico , Hepatite Autoimune/sangue , Hepatite Autoimune/classificação , Hepatite Autoimune/tratamento farmacológico , Hepatomegalia/etiologia , Humanos , Imunossupressores/uso terapêutico , Icterícia/etiologia , Imageamento por Ressonância Magnética , Masculino , Prednisona/uso terapêutico , Esplenomegalia/etiologia , Transaminases/sangue , Resultado do Tratamento , Ácido Ursodesoxicólico/uso terapêutico , gama-Globulinas/metabolismo , gama-Glutamiltransferase/sangue
17.
Rev Med Interne ; 33(11): 607-14, 2012 Nov.
Artigo em Francês | MEDLINE | ID: mdl-22986119

RESUMO

PURPOSE: Sarcoidosis is a systemic disease of unknown etiology that may affect many organs including the liver. Our aims were to determine the clinical, paraclinical and therapeutic characteristics of patients with liver sarcoidosis and to compare, on the one hand, the revealing hepatic involvement to the non-revealing form and, on the other hand, sarcoidosis with and without liver disease. METHODS: A retrospective and descriptive study over 14 years of 25 patients with liver involvement selected from 56 cases of systemic sarcoidosis. RESULTS: The study population was composed of 18 females and seven males. The mean age was 48.2 years. Liver involvement was the presenting manifestation in 56% of cases. The functional history was dominated by general signs and abdominal pain. Hepatomegaly was present in ten patients. Biological abnormalities were identified in 84% of the cases with cholestasis (80%) and cytolysis (36%). Abdominal tomography showed hepatomegaly in 68.4% of the patients. Hepatic impairment was histologically confirmed in 16 patients. Granulomas were located in portal region (18.8%), in lobular region (12.5%) and in both (56.2%). Necroinflammatory lesions were found in 56.2%, cholestatic lesions in 18.8% and vascular lesions in 6.3%. Portal fibrosis and cirrhosis were seen in 25% and 6.3%, respectively. Twenty-four patients were treated with corticosteroids with 1 mg/kg per day (66.7%) and 0.5 mg/kg per day (33.3%). Under treatment, the response was complete in 81% and partial in 9.5%. One patient had no response. The liver involvement was significantly associated with general signs, renal failure and lymphopenia. Abdominal pain, hepatomegaly and lymph node were significantly associated with the revealing form. CONCLUSION: Liver involvement is frequent in sarcoidosis and commonly asymptomatic. Hepatomegaly is the most common clinical sign. Biological disturbance are present in 20 to 40% of the patients. The treatment is based essentially on corticosteroid therapy.


Assuntos
Hepatopatias , Sarcoidose , Adolescente , Adulto , Idoso , Feminino , Humanos , Hepatopatias/diagnóstico , Hepatopatias/terapia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sarcoidose/diagnóstico , Sarcoidose/terapia , Adulto Jovem
18.
Hum Immunol ; 73(7): 732-5, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22561236

RESUMO

Crohn's disease (CD), ulcerative colitis (UC), systemic lupus erythematosus (SLE) and autoimmune polyglandular syndromes (APS) are autoimmune diseases (ADs) that may share common susceptibility pathways. We examined ribonucleo-protein, polypyrimidine tract-binding protein (PTB)-binding 2 (RAVER2) loci for these diseases in a cohort of 39 CD cases, 67 UC cases, 93 SLE cases, 60 APS cases and 162 healthy control subjects of Tunisian origin. We genotyped 3 SNPs of RAVER2 (rs2780814, rs1333739 and rs2780889) and evaluated it genetic association with each ADs, using X2-test. For each association, odds ratio (OR) and 95% CI were calculated. We show that rs2780814 is significantly associated with UC (P = 0.00016, P(corr) = 0.00048, OR = 3.66 (1.82; 7.34)). We also observed a trend of possible association to SLE (P = 0.023, P(corr) = 0.69, OR = 2.19 (1.1; 4.36)). None of these RAVER2 SNPs were associated with CD and APS susceptibility. These findings establish RAVER2 as a new UC genetic susceptibility factor and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between ADs suggesting different immunopathological roles of RAVER2 in these diseases.


Assuntos
Colite Ulcerativa/genética , Doença de Crohn/genética , Ribonucleoproteínas Nucleares Heterogêneas/genética , Lúpus Eritematoso Sistêmico/genética , Adulto , Estudos de Casos e Controles , Colite Ulcerativa/imunologia , Doença de Crohn/imunologia , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Tunísia
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