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.

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.

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.

Altemeier operation for gangrenous rectal prolapse.

A stranguled rectal prolapse is a rare cause of intestinal occlusion. It requires emergency surgery. A patient who underwent emergency perineal proctectomy, the Altemeier operation, combined with diverting loop sigmoid colostomy is described. The postoperative course was uneventful, with an excellent final result after colostomy closure. The successful treatment of this patient illustrates the value of the Altemeier procedure in the difficult and unusual scenario of bowel incarceration.

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.

Screening for toxic retinopathy due to antimalarial drugs in Tunisia.

INTRODUCTION: Toxic retinopathy due to antimalarial drugs is characterized by structural anomalies associated with severe, irreversible visual loss. The advantage of ophthalmologic monitoring is to detect these anomalies at an asymptomatic, preclinical stage, so that the recommended dose can be adjusted before the ophthalmologic manifestations appear. MATERIAL AND METHODS: Cross-sectional study carried out in the ophthalmology department of Habib Bourguiba University Hospital, Sfax, between August 2016 and February 2018. All patients treated in the internal medicine department of Hedi Chaker University Hospital with synthetic antimalarial drugs for at least 1 year were included. A complete ophthalmologic examination and specialized retinal testing (fundus autofluorescence, 10-2 automated visual field and swept source OCT) were performed for all patients. RESULTS: Fifty-six patients treated with antimalarial drugs were analyzed. The main indication was systemic lupus erythematosus (80.3%). Fifty-three patients (94.64%) were treated with hydroxychloroquine, and 3 patients (5.4%) with chloroquine. Thirteen patients (23.2%) exhibited signs of retinal toxicity, with fundus autofluorescence alterations in 8% of cases, fundus anomalies in 12.5% of cases, 10-2 automated visual field defects in 16% of cases, and SS-OCT alterations in 23.2% of cases. We did not find a statistically significant association between retinal toxicity, weight, age, sex and renal insufficiency (p values of 0.8, 0.6, 0.66 and 0.7 respectively). Furthermore, the association between the cumulative dose and retinal toxicity was statistically significant (p=0.02). The prevalence of toxic retinopathy was identified as 5% at 5 years, 25% at 10 years and 70% at 20 years. CONCLUSIONS: A better understanding of the risk factors for retinal toxicity is necessary when prescribing synthetic antimalarial drugs. Screening should be systematic. It should be based on a combination of functional and anatomic tests. The frequency of screening depends on the associated risk factors.

Optic neuropathy as a presenting feature of systemic lupus erythematosus: two case reports and literature review.

Systemic lupus erythematosus (SLE) may affect the eyes and/or visual system in up to a third of patients; however, optic nerve involvement has been rarely reported. SLE presenting as optic neuropathy is exceptional. We report two new cases of optic neuropathy as a presenting feature of SLE. The first patient presented with an ischemic optic neuropathy and antiphospholipid antibodies, and the second presented with optic neuritis. A literature review for previous cases of SLE presenting as optic neuropathy was performed. Early diagnosis of SLE-associated optic neuropathy is warranted and leads to a better prognosis.

Cloning, expression and dynamic simulation of TRYP6 from Leishmania major (MRHO/IR/75/ER).

Leishmania, a digenetic protozoan parasite causes severe diseases in human and animals. Efficient evasion of toxic microbicidal molecules, such as reactive oxygen species and reactive nitrogen species is crucial for Leishmania to survive and replicate in the host cells. Tryparedoxin peroxidase, a member of peroxiredoxins family, is vital for parasite survival in the presence of antioxidant, hence it is one of the most important molecules in Leishmania viability and then, it may be an appropriate goal for challenging against leishmaniasis. After cloning and sub-cloning of TRYP6 from Leishmania major (MRHO/IR/75/ER), homology modeling of the LmTRYP6 was proposed to predict some functional property of this protein. The refined model showed that the core structure consists of a seven ß stranded ß-sheet and five α helices which are organized as a central 7-stranded ß2-ß1-ß5-ß4-ß3-ß6-ß7 surrounded by 2-stranded ß-hairpin, α helices A and D on one side, and α helices B, C and E on the other side. The peroxidatic active site is located in a pocket formed by the residue Pro45, Met46, Thr49, Val51, Cys52, Arg128, Met147 and Pro 148. The catalytic Cys52, located in the first turn of helix αB, is in van der Waals with a Pro45, a Thr49 and an Arg128 that are absolutely conserved in all known Prx sequences. In this study, an attractive molecular target was studied. These results might be used in designing of drugs to fight an important human pathogen.

[The solid pseudopapillary tumor of pancreas: two cases and literature review]. / Tumeurs pseudopapillaires et solides du pancréas: deux observations et revue de la littérature.

Solid pseudopapillary tumor (SPT) of the pancreas is a rare exocrine pancreatic tumor behaving in a low-grade fashion, with limited local invasion risk and a rare metastatic evolution. We report SPT in two young females, revealed by abdominal pain and an epigastric mass. The diagnosis of a cystic tumor was based on abdominal ultrasound and CT data in the first case and on MRI in the second. A distal pancreatectomy and splenectomy were successfully performed in the first case and a central pancreatectomy in the second. Histological study confirmed the diagnosis of SPT of the pancreas.

[Laparoscopic treatment of perforated duodenal ulcer: 84 cases in Tunisia]. / Traitement laparoscopique des ulcères duodénaux perforés: 84 cas en Tunisie.

INTRODUCTION: The purpose of this study was to evaluate the feasibility, efficacy and safety of the laporascopic treatment of perforated duodenal ulcer. METHODS: This retrospective study included patients who underwent laparoscopic treatment of perforated duodenal ulcer during the seven-year period from 2001 to 2007. The procedure included direct suture of the perforated ulcer followed by peritoneal lavage. All patients received medical treatment including Helicobacter pylori eradication and proton pump inhibitor therapy. RESULTS: A total of 84 patients underwent laparoscopic surgery for perforated duodenal ulcer during the study period. There were 81 men and 3 women with a mean age of 28 years. Laparoscopic examination confirmed diagnosis of perforated duodenal ulcer in all cases. Direct suture of the ulcer was successful in 72 cases. In the remaining 12 cases conversion to open surgery was necessary due to difficulty in achieving peritoneal lavage in 6 cases, ulcer size and edge friability in 5, and septic shock in one. The mean duration of the procedure was 95 minutes (range, 60 to 180 minutes). The mean postoperative complication rate was 15.4%. Complications included peritonintis in one case and digestive fistula in one. There were no postoperative deaths. All patients were re-examined after 25 months. Two patients presented recurrences after the laparoscopic treatment and required tri-therapy. CONCLUSION: Laparoscopic suture of perforated duodenal ulcer is safe and effective. It avoids the need for laparotomy that is associated with a risk for septic and parietal complications. Since medical treatment is effective for ulcerous disease, there are currently no indications for radical treatment.

[Rendu-Osler disease and recurrent thromboembolic venous disease]. / Maladie de Rendu-Osler et maladie veineuse thromboembolique récidivante.

Rendu-Osler-Weber syndrome is a rare systemic fibrovascular dysplasia, recognized by mucocutaneous telangiectasias, arteriovenous malformations, epistaxis and family history. Venous thromboembolic disease is a poor prognostic factor in this disease given the risk of increased bleeding caused by anticoagulant therapy. We report a new case of a 56-year-old patient with Osler disease who developed recurrent thromboembolic venous disease when anticoagulants were discontinued. According to a review of the literature, this association does not appear to be fortuitous and is a factor of disease severity.

[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).

Culture of Staphylococcus xylosus in fish processing by-product-based media for lipase production.

AIMS: The objective of this study was to demonstrate that fish-processing by-products could be used as sole raw material to sustain the growth of Staphylococcus xylosus for lipase production. METHODS AND RESULTS: Bacterial growth was tested on supernatants generated by boiling (100 degrees C for 20 min) of tuna, sardine, cuttlefish and shrimp by-products from fish processing industries. Among all samples tested, only supernatants generated from shrimp and cuttlefish by-products sustained the growth of S. xylosus. Shrimp-based medium gave the highest growth (A(600) = 22) after 22 h of culture and exhibited the maximum lipase activity (28 U ml(-1)). This effect may be explained by better availability of nutrients, especially, in shrimp by-products. Standard medium (SM) amendments to sardine and tuna by-product-based media stimulated the growth of S. xylosus and the highest A(600) values were obtained with 75% SM. Lipase activity, however, remained below 4 U ml(-1) for both sardine and tuna by-product-based media. CONCLUSIONS: Fish by-products could be used for the production of highly valuable enzymes. SIGNIFICANCE AND IMPACT OF THE STUDY: The use of fish by-products in producing S. xylosus-growth media can reduce environmental problems associated with waste disposal and, simultaneously, lower the cost of biomass and enzyme production.

[Kikuchi-Fujimoto's disease and connective tissue disease: a report of three cases]. / Maladie de Kikuchi-Fujimoto et connectivite: à propos de trois observations.

INTRODUCTION: Kikuchi-Fujimoto's disease or histiocytic necrotizing lymphadenitis, clinicopathological entity of unknown aetiology, is a rare and benign cause of cervical lymphadenopathies. It can be associated with various auto-immune diseases especially systemic lupus erythematous (SLE) or with some infectious agents. EXEGESIS: This report describes a survey of three patients who developed Kikuchi's lymphadenitis occurring concomitantly with connective tissue disease: LES in two cases and non determined connective tissue disease in the other case. Comparing the clinical, histopathological and evolutionary findings to the literature allows to identify the main features of this self-limiting disorder: occurrence in young women; clinical presentation with cervical lymphadenopathy in a context of fever and asthenia. The definite diagnosis is usually made through histopathological examination of a lymph node biopsy. Disease course is generally favourable with spontaneous resolution within few weeks. It may be improved with corticosteroid treatment in patients with systemic involvement. Prognosis is related to the associated disease. CONCLUSION: Kikuchi-Fujimoto's disease is a rare and benign cause of cervical lymphadenopathy that could resemble lymphoma, tuberculosis and may be associated with a characterized systemic disease.

[Osteomalacia revealing Sjögren's syndrome: a case report]. / Ostéomalacie révélatrice d'un syndrome de Gougerot-Sjögren : à propos d'un cas.

INTRODUCTION: The most common renal disease in Sjögren's syndrome is tubulo-interstitial nephritis, responsible for tubular acidosis in around 20 % of patients. Osteomalacia exceptionally occurs as the first manifestation of a renal tubule disorder due to a Sjögren's syndrome. EXEGESIS: We report a case of a 20-year-old woman with tubular acidosis induced osteomalacia secondary to primary Sjögren's syndrome. Improvement was obtained with bicarbonates, vitamin D, calcium and high-dose steroid therapy. CONCLUSION: During Sjögren's syndrome, osteomalacia can complicate the distal renal tubular acidosis. In spite of the rare cases of osteomalacia revealing Sjögren's syndrome, this auto-immune disease must appear in the list of the aetiologies of osteomalacia.