Molecular genotyping of Echinococcus granulosus using formalin-fixed paraffin-embedded preparations from human isolates in unusual tissue sites.

Cystic echinococcosis (CE) caused by Echinococcus granulosus remains a serious problem worldwide for issues relating to public health and the economy. The most predominantly affected sites are the liver and the lungs, but other organs such as the heart, the spleen and the peritoneum can also be infected. Access to cysts from uncommon sites has limited genomic and molecular investigations. In the present study, genotypes of E. granulosus sensu lato were identified from formalin-fixed paraffin-embedded tissues (FF-PETs) implicated in human CE. Tissue samples were obtained from 57 patients with histologically confirmed CE. DNA samples were analysed using Egss 1 polymerase chain reaction (PCR) specific to the mitochondrial 12S rRNA gene of E. granulosus sensu stricto. All cysts were typed as E. granulosus sensu stricto with up to 35% of the liver and 16.6% of lungs being the most frequently infected, and up to 48.4% of samples being from rare sites. No correlation was found between cyst site and either the gender or the age of patients. This study demonstrates the possibility of exploiting atypical cysts using FF-PET samples and highlights the predominance of E. granulosus sensu stricto species in the Tunisian population, even in unusual infection sites.

[Imaging of pulmonary artery involvement in Takayasu disease]. / Imagerie de l'atteinte artérielle pulmonaire au cours de la maladie de Takayasu.

OBJECTIVES: Illustrate imaging aspects of pulmonary artery involvement in Takayasu's arteritis. PATIENTS AND METHODS: Retrospective study of six patients among 28 patients with Takayasu arteritis whose disease involved the pulmonary arteries and to review their clinical and computed tomography data. RESULTS: Mean patient age among those with pulmonary artery involvement was 34 years. All patients exhibited extensive lesions of systemic arteries. The most common computed tomography angiography sign was wall thickening. Dilatation of the pulmonary artery trunk was observed in one-third of cases. CONCLUSION: Pulmonary arterial involvement in Takayasu's disease is not uncommon. Computed tomography is a reliable imaging technique to establish the diagnosis.

[Visceral leishmaniasis in immunocompetent adults. About six cases]. / La leishmaniose viscérale de l'adulte immunocompétent. À propos de six cas.

OBJECTIVE: Studying the epidemiological variations of visceral leishmaniasis in Tunisia and proving the importance of parasitological investigations to raise the diagnosis. PATIENTS AND METHODS: Six patients hospitalised during the period between January 1998 and January 2009 at Fattouma Bourguiba Teaching Hospital in Monastir, five men and an only one woman, aged from 26 to 70 years old, originating from the central and eastern regions of the country. Epidemiological, clinical, biological and therapeutic data were obtained from the patient's medical files. RESULTS: The major clinical symptoms were fever, weakness and spleen enlargement. Biological data revealed the presence of anaemia in every case and leucopoenia associated or not associated with thrombopenia in four cases. The diagnosis of visceral leishmaniasis was confirmed by the identification of the parasite in the blood or in the bone marrow. All patients were treated with two courses of antimoniate of meglumine separated by a 6-week interval. The outcome was positive and the patients were cured. CONCLUSION: Visceral leishmaniasis is increasing among adults in Tunisia. Moreover, it is spreading outside its epidemiological area in the north to reach the central and southern regions. It should be raised when fever and spleen enlargement occur. Biological data are hardly specific. Diagnosis is based on finding the parasite in human fluids, mainly by molecular techniques. The rapid establishment of a specific treatment is vital.

[Retrospective study of the distribution and the fertility of hydatid cysts in the child in Tunisia]. / Étude rétrospective de la distribution et de la fertilité des kystes hydatiques chez l'enfant en Tunisie.

PURPOSE OF THE STUDY: Our aim was to study the distribution and the fertility of the hydatid cysts in function of the age and the sex of patients and to identify the strain(s) responsible(s) of the children hydatidosis. PATIENTS AND METHODS: We have analyzed a total of 241 cysts coming from 195 children aged 2 to 16 years operated in the CHU F. Bourguiba of Monastir during the period from November 1999 to December 2009. For each cyst, the localization and the fertility of the métacestode as well as age, sex and origin of the patient are listed. Identification of strains was carried out by PCR/RFLP and has targeted the ribosomal gene ITS1. RESULTS: The lung was the primary localization of cyst (61.8%) followed by the liver (34.85%). The greatest number of cases is observed in the age groups 4-9 years (138 cases) where children's infection is more frequent in the male than in the female sex. The fertility of the cyst was independent of its site or its size and no incidence of age of children was detected. The G1 sheep strain is responsible for the contamination of children. CONCLUSION: The cystic echinococcosis described as a young adult disease may actually observed at any age and remains a serious problem of public health in Tunisia.

[Abdominal tuberculosis: a retrospective series of 90 cases]. / Tuberculose abdominale : étude rétrospective de 90 cas.

PURPOSE: The aim of this study was to analyze the clinical, bacteriological, radiological and therapeutic features of abdominal tuberculosis in a series of 90 patients. METHODS: This was a retrospective and descriptive multicentre study of 90 cases of abdominal tuberculosis conducted from June 1997 to June 2008. Diagnosis of tuberculosis was based on bacteriologic evidence in 12 cases, histological evidence in 55 cases and on clinical and radiologic features with favorable outcomes under specific treatment in the 23 remaining cases. RESULTS: Thirty-one patients were male and 59 were female. The mean age of the patients was 41.5 years. Family history of tuberculosis was reported in three cases. Associated risk factors were: diabetes mellitus (five cases), ethylism (one case), post-hepatitis C cirrhosis (one case), systemic lupus erythematosus treated by corticosteroids (one case). Sites of involvement were: peritoneum (78 cases), liver (14 cases), gut (nine cases) and spleen (eight cases). Forty-eight patients (53,3%) had only an abdominal involvement, nine others patients (10%) had an abdominal involvement associated with intra-abdominal lymph nodes, 16 patients (17,8%) had a respiratory involvement (pulmonary, pleural and mediastinal lymph nodes), eight patients (8,8%) presented with an extra-abdominal and extra-respiratory involvement and 10 patients (11,1%) had respiratory and extra-respiratory disease associated with abdominal involvement. Among the 54 patients who underwent laparoscopy or laparotomy, diagnosis was evoked on macroscopic examination in 51. CONCLUSION: Laparoscopy and laparotomy are still helpful for the diagnosis of abdominal tuberculosis, especially in the presence of peritoneal involvement.

[Management of spontaneous pneumomediastinum in the adult: 14 cases and a review of the literature]. / Prise en charge du pneumomédiastin spontané chez l'adulte: à propos de 14 cas avec revue de la littérature.

The authors report a series of 14 patients hospitalized for spontaneous pneumomediastinium between 1992 and 2006. They included 10 men and four women with an average age of 27.84 years. Dyspnoea dominated the symptoms. The pneumomediastinum was idiopathic in five patients and secondary in the other nine patients, involving an attack of severe asthma in half of the patients, polymyositis in one patient and idiopathic pulmonary fibrosis in one patient, respectively. The patients presenting polymyositis and pulmonary fibrosis died due to respiratory distress. The other patients benefited from asthma treatment or thoracic drainage, and were kept at rest. Their outcome was good. No cases of relapse were observed after an average follow up of 2.11 years.

[Eosinophilic fasciitis (Shulman's disease): a case series of 11 patients]. / Fasciite avec éosinophilie (syndrome de Shulman): à propos de 11 patients.

PURPOSE: Eosinophilic fasciitis or Shulman's disease is a rare condition of unknown etiology. METHODS: We report a retrospective case series of 11 patients with eosinophilic fasciitis (seven men and four women, including a single pediatric case) and perform a systematic literature review to determine the main features of this disease. RESULTS: Mean age of the patients was 46 years. Subcutaneous induration of limbs observed in all the patients was the major presenting symptom. The induration was atypically located in the chest area in two patients. Blood eosinophilia was absent in five cases. Histological fasciitis was demonstrated in all patients and eosinophilic infiltration was present in seven patients. Relapse of subcutaneous induration was observed in only one patient who gradually developed systemic sclerosis. CONCLUSION: Diagnosis of eosinophilic fasciitis should be considered in the presence myalgia and subcutaneous induration of limbs, blood eosinophilia and hypergammaglobulinemia. Treatment is based on systemic corticosteroids.

[McDuffie hypocomplementemic urticarial vasculitis associated with Sjögren's syndrome]. / Vascularite urticarienne hypocomplémentémique de McDuffie associée à un syndrome de Gougerot Sjögren.

We report a patient with Sjögren's syndrome who presented with urticarial hypocomplementemic vasculitis. A 46-year-old female was admitted for assessment of ascitis. Clinical examination and computed tomographic scan disclosed evidence of multiple peripheral and intra abdominal lymph nodes. During her admission, she developed several bouts of acute angioedema and urticarial skin lesions. Minor salivary gland biopsy showed focal sialadenitis, stage IV of Chisholm. Schirmer's test was positive. Laboratory examination found low levels of C1q and high levels of C1q antibodies. Therapy with prednisone and hydroxychloroquine was initiated. Six months later, the patient presented with lower limb oedema. Urinalysis showed proteinuria (1g/day) and renal biopsy revealed membranous nephropathy with favorable outcome with corticosteroids.

[Etiological profile of digital necrosis of the upper limbs: analysis of 25 cases]. / Profil étiologique des nécroses digitales des membres supérieurs : analyse de 25 observations.

AIM: To investigate the etiologies of the upper limb digital necrosis based on a retrospective analysis of 25 cases. PATIENTS AND METHODS: We retrospectively reviewed the medical records of patients treated for digital necrosis of the upper limb in four departments of internal medicine from January 1997 to December 2003. RESULTS: There were 16 women and nine men, mean age 55 years. Eleven patients were smokers. Raynaud's phenomenon was noted in 12 cases. Connective tissue diseases were the most common cause (nine cases), all of them were women. The second cause was atherosclerosis (five cases) and Buerger's disease (five cases). In the other cases, the following diagnoses were found: vasculitis (three cases) and neoplasm (two cases). No cause could be identified in one female smoker. CONCLUSION: Digital necrosis is a common symptom, revealing a vascular pathology. Its causes are diverse. In women, it first suggests a connective tissue disease whereas in men, a diffuse arteriopathy. The etiological diagnosis strategy should consider drug intake, anamnesis and Raynaud's phenomenon history. However, in all cases the etiology investigations should not delay the treatment in order to preserve functional prognosis.

[Hydatid cyst of the chest wall mimicking metastatic colon cancer]. / Kyste hydatique de la paroi thoracique mimant une métastase de cancer colique.

Chest wall hydatidosis, rare even in the endemic countries, represents 0.09 to 0.3 % of all cases of thoracic echinococcosis. The authors report the case of a 76 year-old man presenting a chest wall mass 4 years after surgery for colic carcinoma. The mass presented both hypoechoic and hyperechoic structures in the ultrasound chest echography. Therefore, metastastic colon cancer was suspected. The pathological study of the mass revealed hydatid membranes. Thoracic tomodensitometry supported the diagnosis of costovertebral and soft tissue hydatid cysts. The patient underwent the surgical resection of two rib arches, a transverse apophysis and the neighbouring soft tissue associated with pre- and post-surgical albendazole. No clinical manifestations were noted in the follow-up after 1 year.

[Cystic echinococcosis in children in Tunisia: fertility and case distribution of hydatid cysts]. / L'échinococcose hydatique de l'enfant en Tunisie: fertilité et localisation des kystes.

Cystic echinococcosis, which commonly starts during childhood or adolescence, is a serious problem of public health in Tunisia. For 121 children (161 cysts), the localization and fertility of cysts as well as viability of their protoscoleces were determined. Results indicated that the lung was the primary localization of cyst (59%) followed by the liver (35%). Children's infection is more frequent in male than in female (sex ratio 1.96) and the greatest number of cases is observed in the 4-9 year age groups (94 cases). The fertility of the cyst was independent of its site or its size and no incidence of age of children was detected. Nevertheless, the fertility rate is higher in females than in males for the liver localization.

[Myalgia in familial Mediterranean fever]. / Myalgies au cours d'une fièvre méditerranéenne familiale.

INTRODUCTION: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever and painful episodes of sterile peritonitis, pleuritis and arthritis. Among rare symptoms of the disease, muscular manifestations, first described in 1945, sometimes as one of the main clinical manifestations or as its sole feature should be recognized. We present a patient with FMF in whom severe myalgia were predominant. CASE REPORT: An 18 year-old Tunisian boy treated with corticosteroids for an "inflammatory myopathy" in another institution was admitted for abdominal pain. FMF was suspected because of a history of paroxysmal abdominal pain with fever from the age of 5 leading two times to laparotomy and one attack of left knee arthritis at the age of 14. FMF diagnosis was confirmed genetically, corticosteroids were tapered and a treatment with colchicine was started. Two years and a half later, he was admitted for severe and incapacitating myalgia of the upper and lower limbs without fever nor abdominal pain that responded well to rest and colchicine. Myalgia was then definitively attached to FMF. CONCLUSION: Three clinical patterns of myalgia are now well identified in FMF: the spontaneous pattern as observed in our patient, the exercise-induced pattern and the protracted febrile myalgia syndrome. The three patterns differ in the severity of pain, grade of fever and duration of the episode.

[Behçet's disease in Tunisia. Clinical study of 519 cases]. / La maladie de Behçet en Tunisie. Etude clinique de 519 cas.

PURPOSE: To describe clinical characteristics of Behçet's disease in Tunisia. METHODS: It's a retrospective and multicentric study conducted by the Tunisian society of internal medicine. Inclusion criteria were those of the international study group. Were also included patients without international study group criteria but with at least one manifestation among arthritis, venous thrombosis or neurological manifestation with oral and genital ulceration or oral ulceration and skin lesions. RESULTS: Five hundred and nineteen patients were included. 87.5% of them fulfilled the international criteria. The male to female ratio was 2,7. The mean age was 28.7+/-9.3 years at onset and 32.7+/-9.2 years at diagnosis. The incidence of each manifestations was as follows: oral ulcers: 100%, genital ulcers: 87.5%, pseudo-folliculitis: 67.6%, erythema nodosum: 17.5%, positive pathergy test: 51%, joint involvement: 55%, uveitis: 32.2%, vein thrombosis: 24.9%, arterial aneurysms: 3.9%, neurological involvement: 11.6%. The frequency of HLA B51 antigen was 35% among the 187 patients tested. There was no difference in the manifestations of the disease between patients having B51 and those lacking it. Venous thrombosis (29.8 vs 11.4%), arterial involvement (4.4 vs 1.4%) and uveitis (37.5 vs 17,9%) were significantly more frequent in men whereas erythema nodosum (22.9% vs 15.6%) and joint involvement (70,7 vs 49.9%) more frequent in women. The mean follow up was 6,1+/-5.7 years. Mortality rate was 2.3% in our series. CONCLUSION: Our study confirms the androtropism of the disease in Mediterranean and Middle east countries. Positive pathergy test and venous thrombosis were more frequent in our study, like those from Mediterranean region. Whereas, ocular and neurological involvement were quite less frequent in our series.

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.

NADPH oxidase, a multi-subunit protein consisting of cytosolic components and the membrane-bound heterodimer, plays an instrumental role in host defence mechanisms of phagocytes. Genetic deficiency of the enzymatic complex results in an inherited disorder, chronic granulomatous disease (CGD), which is characterized by an impaired phagocyte microbicidal activity. X-Linked (XL) CGD results from a mutation in the CYBB gene encoding the gp91phox subunit, while autosomal recessive (AR) CGD is associated with mutations in one of the NCF1, NCF2 and CYBA genes that encode the p47phox, p67phox and p22phox subunits, respectively. In the study reported here, we investigated genetic defects underlying CGD in 15 Tunisian patients from 14 unrelated families. Haplotype analyses and homozygosity mapping with microsatellite markers around known CGD genes assigned the genetic defect to NCF1 in four patients, to NCF2 in four patients and to CYBA in two patients. However, one family with two CGD patients seemed not to link the genetic defect to any known AR-CGD genes. Mutation screening identified two novel mutations in NCF2 and CYBA in addition to the recurrent mutation, DeltaGT, in NCF1 and a splice site mutation previously reported in a North African patient. Our results revealed the genetic and mutational heterogeneity of the AR recessive form of CGD in Tunisia.

Genetic differences between Tunisian camel and sheep strains of the cestode Echinococcus granulosus revealed by SSCP.

Ovine and dromedary Echinococcus granulosus isolates from Tunisia were identified as G1 and G6 strains based on polymorphism of the mitochondrial cytochrome C oxydase CO1. Single strand conformation polymorphism (SSCP) was used in order to examine the genetic variation within and between Tunisian G1 and G6 strains and to estimate the extent of selfing. The dromedary isolates are genetically distinct from sheep isolates (high value of genetic variation between populations: Fst= 0.46). No significant deficiency in heterozygotes was found in sheep isolates, whereas heterozygote deficiency (suggesting selfing) was found in a limited number of camel isolates.

[Takayasu's arteritis associated with acute myeloblastic leukemia]. / Association artérite de Takayasu et leucémie aiguë myéloblastique.

INTRODUCTION: We present one patient with acute myeloblastic leukemia diagnosed two months after the onset of Takayasu's arteritis. EXEGESIS: A 21-year old woman with a previous history of erythema nodosum and episcleritis was admitted for a left cervical mass. Diagnostic imaging showed an aneurism of the left extracranial internal carotid and a stenosis of the left subclavian artery. Histological findings of the carotid aneurism revealed a granulomatous giant cell arteritis consistent with Takayasu's arteritis. Two weeks after, she was discharged, elevated white cell count (440.000/mm3 ) was disclosed. A bone marrow aspirate documented an acute myeloid leukemia. The patient died of intracerebral hemorrhage. CONCLUSION: Leucocytoclastic vasculitis and polyarteritis nodosa occur in acute myeloid leukemia, but the association with Takayasu's arteritis is new. In our knowledge, only two documented cases of Takayasu's arteritis in association with acute myeloblastic leukemia have been published.

Molecular evidence of ovine (G1) and camel (G6) strains of Echinococcus granulosus in Tunisia and putative role of cattle in human contamination.

Three hundred and seventy-two cysts coming from 50 humans, 166 cattle, 153 sheep and 3 camels were collected in order to establish some epidemiological molecular information in Tunisia for the first time. The analysis by PCR-RFLP of ITS1 sequence showed that all the human, ovine and bovine cysts were due to the common sheep strain of Echinococcus granulosus. The sequencing of the CO1 gene of 37 isolates confirm the G1 genotype of this strain. For seven of these isolates, we found the mutation C56T which is present in the three principal intermediate hosts: human (three cysts), cattle (three cysts) and sheep (one cyst). With regard to the G1 genotype, we identified three other point mutations. The camel strain G6 is uniquely found in the three camels isolates and not in the other intermediate hosts analysed. The fertility of the bovine cyst represents 48% that means that this host is involved in a bovine-dog cycle and consequently represents a reservoir of sheep strain in Tunisia. Our results confirm the importance of the prophylaxis measures in order to disrupt the cycle of transmission sheep-dog in Tunisia. Nevertheless, the supervision of bovine infection should be reinforced because this intermediate host may constitute an important link with the human contamination.