Familial lupus in Tunisia: a series of 14 families.

The relatively high prevalence of systemic lupus erythematosus (SLE) in familial cases supports genetic susceptibility to this disease. Although many advances have been made in the identification of new genes implicated in lupus pathogenesis, to date, there has been no large study of familial SLE. We report what we believe to be the first study of familial SLE in the North African population. The objectives of this study were to determine the main clinical and laboratory features of familial lupus and to compare them to sporadic lupus in a population of Tunisian patients. Fourteen families in which the diagnosis of lupus could be verified in at least two relatives were included in the study. All patients fulfilled four or more criteria defined by the American College of Rheumatology. Twenty-seven patients (23 females and 4 males) with familial SLE among a cohort of 253 SLE patients were found, resulting in a frequency of 10.67%. No significant differences were found between familial SLE cases and their controls in terms of sex ratio, mean age at onset and clinical and serological manifestations, which is consistent with the results of other series reported in the literature. Our results support the importance of carrying out more genetic studies within families of SLE in order to have a better understanding of the genetic and molecular mechanisms of the disease.

[Tocilizumab for refractory Takayasu arteritis with aortic aneurysm]. / Traitement par tocilizumab d'une artérite de Takayasu réfractaire avec anévrysme aortique.

Takayasu arteritis (TA) is a form of large vessel vasculitis (LVV) which affects the aorta and the main arteries. Many reports showed efficacy of biologic drugs (TNF α inhibitors and interleukin 6 inhibitors) in refractory TA cases. We report the case of a 46-year-old woman with refractory TA complicated by giant aortic aneurysm (AA) and severe hypertension, treated efficacy with tocilizumab (anti-interleukin 6 receptor monoclonal antibody).

Profil épidémiologique, clinique et valeur diagnostique des anticorps anti-Jo1 (anticorps anti-aminoacyl-t-RNA-synthétases). Etude rétrospective à propos d'une série de 22 patients

Propos : Notre objectif était de rapporter les caractéristiques épidémiologiques et cliniques de 22 patients avec anticorps anti-Jo1 positifs.Patients et méthodes : Etude rétrospective menée dans les services de Médecine interne et d'immunologie (Sfax-Tunisie) entre 2010 et 2016. Le dépistage des Anticorps Anti-Nucléaires (AAN) était réalisé par Immuno-Fluorescence Indirecte (IFI) sur cellules Hep2. Chaque sérum positif était testé par immunodot. Résultats : Vingt-deux patients ont été étudiés : 18 femmes et 4 hommes (âge moyen : 46 ans). Les principales manifestations cliniques étaient les signes rhumatologiques : 14 cas (63%), les signes généraux : 11 cas (50%), les manifestations musculaires : 8 cas (36%), les signes pleuro-pulmonaires : 8 cas (36%), les signes cutanés : 9 cas (45%), un phénomène de Raynaud : 2 cas (9%) et des mains de mécaniciens : 2 cas (9%). Le diagnostic d'une myosite de chevauchement était retenu chez 6 patients dont 4 avaient un Syndrome des Anti-Synthétases (SAS). Le diagnostic de maladies auto-immunes ou systémiques était retenu chez 9 malades. Le diagnostic de maladie non auto-immune était établi chez 7 patients. Tous les patients avaient des anti-Jo1 positifs associés avec l'anti- Ro52 (11 cas), l'anti-SSA (7 cas), l'anti-SSB (17 cas), l'anti-Sm (2 cas), l'anti-AND (1 cas), l'anti-centromère (3 cas) et l'anti Scl-70 (3 cas). Conclusion : Notre étude montre la rare prévalence des anticorps anti-Jo1, suggère l'intérêt de les rechercher devant un contexte évocateur et de façon systématique en cas de myosite ou d'atteinte pulmonaire interstitielle ou de fluorescence cytoplasmique des AAN

[Primary Sjögren syndrome in a child]. / Syndrome de Goujerot-Sjögren primitif de l'enfant : à propos d'un cas.

Sjögren syndrome is uncommon in children and occurs most often in association with autoimmune diseases (secondary Sjögren syndrome). We describe the clinical and biological features of a 7-year-old girl with primary Sjögren syndrome revealed by recurrent parotiditis. CASE REPORT: A 7-year-old girl was referred for investigation of multiple episodes of parotid swelling since age 4 years, without systemic symptoms. The examination was unremarkable except for enlarged and painless parotid glands. Laboratory investigations and labial salivary gland biopsy revealed Sjögren syndrome without associated disease. Hydroxychloroquine was prescribed with clinical improvement. CONCLUSION: Recurrent parotiditis in children is an uncommon condition. The onset of parotid swelling at 5 years or over deserves screening for disimmune disorders, sarcoidosis, or Sjögren syndrome. Diagnosis of Sjögren syndrome is based on diagnostic criteria.

[TAFRO syndrome and monoclonal gammapathy: Uncommon association!]. / Syndrome de TAFRO et gammapathie monoclonale : association inhabituelle !

Castleman's disease is a lymphoproliferative disorder characterized by angiofollicular lymph node hyperplasia. Recently, a new variant of multicentric Castleman's disease has been identified in Japan called TAFRO syndrome. It is characterized by a constellation of symptoms: thrombocytopenia, anasarca, reticulin fibrosis of the bone marrow, renal dysfunction and organomegaly (TAFRO). It is usually associated with polyclonal hyperimmunoglobulinemia. Here, we report the first and unique case of TAFRO syndrome with monoclonal gammapathy.

Association study of MICA-TM and HLA-class I polymorphism with uveitis in South Tunisian population.

BACKGROUND: Uveitis refers to intraocular inflammation. The pattern of uveitis is largely influenced by a multitude of factors including genetic background. AIM: The purpose of our study was to identify the association between the polymorphism of the transmembrane region of MICA (MICA-TM) and uveitis in Tunisian patients with intraocular inflammation. PATIENTS AND METHODS: A total of 79 Tunisian patients and 123 healthy controls were enrolled in our study. HLA-class I phenotyping was performed by microlymphocytotoxicity complement dependent and MICA-TM was genotyped by a semiautomatic fluorescent-labelled PCR method, amplicons were analysed on ABI Prism 310 genotyper. Comparisons of allele frequencies between patients and controls, and between patients' subgroups were performed using SPSS 20.0. RESULTS: In our 79 patients, HLA-B27 showed a significant increased frequency when compared with healthy controls (P=0.003, 7.88 [95% IC=2.17-28.65]). The association was more significant when considering idiopathic anterior uveitis (P=0.00002, OR=11.65 [95% IC=3.06-45.17]). No MICA allele was significantly increased in uveitis groups compared to controls. In the idiopathic uveitis group, MICA-A4 was associated with late age of onset of disease (P=0.04). HLA-B51 and MICA-A6 were associated respectively with severe tyndall (P=0.008) and with the presence of synechiae (P=0.007). CONCLUSION: Some clinical features of uveitis may be influenced by specific MICA-TM alleles. In our South Tunisian population, MICA plays a disease modifying role, rather than being an important gene in the susceptibility for developing of uveitis.

Causes and outcome of hospitalisations in Tunisian patients with systemic lupus erythematosus.

OBJECTIVE: To describe the most common reasons of admission of Tunisian patients with systemic lupus erythematosus (SLE) and the outcomes of these hospitalisations. METHOD: The charts of patients with SLE who were hospitalised at our Department of Internal Medicine during a 2-year period from January 2011 to December 2012 were retrospectively reviewed, and the demographic characteristics, clinical and laboratory features, as well as all comorbidities, were collected. RESULTS: There were 128 episodes of hospitalisation of 87 patients with SLE. 25 patients (28.7%) were admitted twice or more. The median length of stay for all admissions was 11 days (2-76). The total number of days of hospitalisation was 1896 days, which represent 10.7% of the total number of days of hospitalisation in our department. The most common overall reason for hospitalisation was active SLE (55 events, 43%). In 29 patients, SLE was newly diagnosed during hospitalisation. Other causes of hospitalisation included assessment of the disease, infections (9.4%) and associated autoimmune disease (6.25%). Adverse drug reaction (3.1%) and thromboembolic events (1.25%) were uncommon causes of hospitalisations. There was a significant difference in length of stay between patients admitted with SLE flare and those admitted for non-SLE flare reasons (p<0.01). Four hospitalisations (3%) resulted in death. The principal cause of death was active SLE. CONCLUSIONS: Hospitalisation of patients with SLE is common in our department. Our study of this North African SLE population confirms the findings of previous studies suggesting that active SLE and infection remain the most common causes of hospitalisation of patients with SLE.

Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report.

Pachydermoperiostosis is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common symptom. We report the case of a patient with a complete form of pachydermoperiostosis with bilateral ptosis as presenting feature.

[Risk factor for deep venous thrombosis in internal medicine: A retrospective study of 318 cases]. / Profil étiologiques des thromboses veineuses profondes en milieu de médecine interne : une étude rétrospective de 318 cas.

OBJECTIVE: Venous thromboembolic disease is a common condition. Deep vein thrombosis (DVT) and pulmonary embolism are the most common manifestation but other locations may also occur. The objectives of the study were to estimate the incidence and determine the epidemiologic, topographic and associated conditions of venous thromboembolic disease in a department of internal medicine. METHODS: A retrospective study of a series of 318 cases of DVT was conducted in Internal Medicine CHU Hedi Chaker, Sfax, during a period of 15 years (1996-2010). RESULTS: DVT of the lower limbs was the most common location (87%). Other sites of DVT was noted in 16.35% of cases including upper limbs (19 cases), vena cava (16 cases), cerebral veins (10 cases), portal vein (10 cases) and hepatic vein (3 cases). A risk factor of VTE was found in 274 patients (86.1%). A state of thrombophilia was retained in 203 patients (63.5%). It was a hereditary thrombophilia (22.6%), an antiphospholipids syndrome (19.1%), Behçet's disease (16.4%) and neoplasia (7.2%). The study of the distribution of venous thrombosis as the seat and etiology showed that: the antiphospholipid syndrome was the most associated conditions with the upper extremity DVT (31.7%) whereas Behçet's disease was the most frequent etiology of vena cava thrombosis (7 cases) and the cerebral vein thrombosis especially in young males.

Multiple cranial nerve palsy revealing hypertrophic pachymeningitis with positive myeloperoxidase-antineutrophil cytoplasmic antibody.

Pachymeningitis is a progressive disease resulting in a diffuse thickening of dura mater due to inflammation, tumor or autoimmune diseases, but most cases are idiopathic. Here, we report the case of a 60-year old man who had a progressive sensorineural hearing loss, visual disturbance and others cranial nerve involvement with an accompanying headache over several months. Brain magnetic resonance imaging showed diffusely thickened dura mater, highly enhanced after gadolinium administration, which was consistent with pachymeningitis. It was assumed to be related to autoimmune pathogenesis on the basis of elevated serum myeloperoxidase-antineutrophil cytoplasmic antibody titers. After empirical steroid and cyclophosphamide therapy, the neurological problems were partially improved. Therefore, in the case of atypical sensorineural hearing loss accompanied by cranial nerve palsy or headache, pachymeningitis should be considered in the differential diagnosis.

[Antisynthetase syndrome: a report of four cases and literature review]. / Le syndrome des antisynthétases : à propos de quatre observations et revue de la littérature.

The antisynthetase syndrome (ASS) includes inflammatory myopathy (polymyositis or dermatomyositis), interstitial lung disease (ILD), arthritis, Raynaud's phenomenon, and mechanic's hands, associated with antibodies against aminoacyl-tRNA-synthetases, the most well-recognized being the anti-Jo1 antibody (anti-histidyl-tRNAsynthetase). We report four cases of antisynthetase syndrome and review the clinical characteristics and prognosis factors dominated by ILD. We report the cases of four women with a mean age of 42 years (28-62 years). The interstitial lung disease was found in four cases and was objectified by CT-scan in all cases. The pulmonary symptoms were consisted of dyspnea (one case) and respiratory distress (one case). The anti-Jo1 antibodies were present in the four patients. The myopathy was concomitant with pulmonary involvement (two cases), preceded it in 6 months (one case) and in the course of evolution and after 1 month (one case). All patients received corticosteroid treatment. The immunosuppressive treatment was necessary for two patients because of the severity of the pulmonary involvement. The outcome was favorable in two patients, partially favorable in a patient who presented pulmonary fibrosis. However, one patient died after developing brain abscesses.

Clinical implications and prognostic significance of thrombocytopenia in Tunisian patients with systemic lupus erythematosus.

OBJECTIVE: The objective of this study was to determine the role of thrombocytopenia in terms of disease manifestations, disease activity and prognostic impact in a cohort of Tunisian systemic lupus erythematosus (SLE) patients. METHODS: The charts of 182 SLE patients diagnosed between 1996 and 2009 were retrospectively reviewed. The clinical manifestations, immunological profiles, disease activity, SLE relapses and survival rate at the time of follow-up were recorded. RESULTS: Thrombocytopenia (<100,000/mm(3)) and severe thrombocytopenia (<20,000/mm(3)) was observed in 19.2% and 4.4%, respectively. Hemorrhagic manifestations were observed in 11 patients (31.4%). Thrombocytopenia was significantly associated with splenomegaly, renal disorders, neurologic manifestations, arterial thrombosis, leucopenia, low C3 level at SLE diagnosis, SLE relapses and infectious complications. Using multivariate logistic regression, thrombocytopenia was independently associated with splenomegaly (odds ratio [OR] = 9.36, p = 0.001), neurologic manifestations (OR = 4.6, p = 0.006) and renal disease (OR = 4.15, p = 0.02). By multivariable Cox proportional hazard regression analyses, thrombocytopenia was associated with the occurrence of mortality after adjusting for variables known to influence it (hazard ratio [HR] = 1.79, p = 0.045). The cause of death was unrelated to hemorrhagic complications in all patients. CONCLUSION: Our results, concerning North-African SLE patients, confirm the findings of previous studies which suggest that thrombocytopenia correlates with more severe disease and has a negative impact on the survival of lupus patients.

Antifungal properties of Salvadora persica and Juglans regia L. extracts against oral Candida strains.

We report in this work, and for the first time, the potent antifungal activities of Salvadora persica and Juglans regia L. on different Candida species. Methanol, ethyl acetate, and diluted acetone extracts of S. persica (fresh and dry plant) and J. regia L. were screened for in vitro activity against some Candida species. These plants were selected due to their traditional use for the treatment of oral infections. Plant preparations were screened for antifungal activity using a standard agar disc diffusion assay. Following study of the antifungal activity of plant extracts, their minimal inhibitory concentration (MIC) and minimal fungicidal concentration (MFC) values were determined using broth microdilution assay. Among S. persica and J. regia L. extracts, ethyl acetate J. regia L. extract had potent antifungal activity against all Candida strains. The MIC values of the J. regia L. against Candida strains ranged from 0.006 to 0.195 mg/ml. Two C. albicans strains showed a high MIC value (3.125 mg/ml). These results indicate that extracts can contain compounds with therapeutic potential against Candida strains and, hence, their possible use as therapeutic agents.

Molecular typing of clinical Candida strains using random amplified polymorphic DNA and contour-clamped homogenous electric fields electrophoresis.

AIMS: This report describes an investigation into the genetic profiles of 38 Candida albicans and 19 Candida glabrata strains collected from a dental hospital of Monastir (Tunisia) and the Laboratory of Parasitology, Farhat Hached Hospital of Sousse (Tunisia), using two typing methods: random amplified polymorphic DNA (RAPD) and contour-clamped homogenous electric fields (CHEF). METHODS AND RESULTS: The two methods (RAPD and CHEF electrophoresis) were able to identify clonal-related isolates from different patients. RAPD method using two primers (CA1 and CA2) exhibited the highest discriminatory power by discriminating 22 genotypes for C. albicans with CA1 oligonucleotides and 19 genotypes with CA2 primer. For C. glabrata, 17 genotypes were obtained when both primers CA1 and CA2 were combined. The CHEF karyotyping of C. albicans has discriminated only 17 different karyotypes. CONCLUSION: The genotype of each isolate and genotypic difference among C. albicans and C. glabrata isolates were patient specific and not associated with the site of infection, geographic origin or date of isolation. SIGNIFICANCE AND IMPACT OF THE STUDY: Identification of relatedness between Candida species using molecular approaches with high discriminatory power is important in determining adequate measures for interruption of transmission of this yeast.

High potential of adhesion to abiotic and biotic materials in fish aquaculture facility by Vibrio alginolyticus strains.

AIMS: The ability of Vibrio alginolyticus strains isolated from Sparus aurata and Dicentrarchus labrax nursery to adhere to epithelial cell lines (Hep-2 and Caco-2), fish mucus and their ability to form a biofilm on different surfaces (glass, polystyrene, polyethylene and polyvinyl-chloride) was investigated in this study. METHODS AND RESULTS: The extracellular products were rich in enzymes and the strains were haemolytic on Wagatsuma agar and possessed several hydrolytic exoenzymes such as proteases, DNase and lipases. Most strains tested were multiresistant to the 17 antibiotics tested including those used in the farm to treat vibriosis. CONCLUSIONS: These bacteria were able to form a biofilm on all the surfaces tested and the cell density was the highest on the PVC surface followed by that on the glass slides, polystyrene and the polyethylene surface. More than 50% of the tested strains were adhesive to the epithelial cell lines (Hep-2 and Caco-2). SIGNIFICANCE AND IMPACT OF THE STUDY: These properties allow these bacteria to survive, proliferate and persist in all stages of fish rearing nursery even after seawater treatment with UV light.

Phenotypic variations and molecular identification of Salmonella enterica serovar Typhimurium cells under starvation in seawater.

In seawater, enteric bacteria evolve toward a stressed state that is difficult to identify because of major alterations of their phenotype. In this study, we incubated four reference strains of S. enterica serovar Typhimurium in seawater microcosms for 10 months and studied the modifications of their main phenotypic characters. All of the strains lost some key characters used for traditional identification of the Salmonella genus. They became able to produce acetoin, and tryptophane deaminase activity became positive, but they lost the capacity to use rhamnose. We were able to show some modifications of the level of enzymatic profile as well as in their antibiotic susceptibility. The atypical cells of S. enterica serovar Typhimurium were identified by polymerase chain reaction (PCR) methods using the internal transcribed spacer region, and they were confirmed by multiplex PCR after the simultaneous amplification of the phoP, Hin, and H-li genes.