Association study of apolipoprotein E promoter polymorphism (-427 T/C) and Alzheimer's disease in a Tunisian population.

BACKGROUND: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with an as yet poorly understood etiology. Both environmental and genetic factors have been implicated as predisposing factors. The apolipoprotein E (APOE) ɛ4 allele is an established genetic susceptibility factor for AD for several populations including the Tunisian population. Polymorphism rs769446 (-427 T/C) at the promoter region of the APOE gene is postulated to affect the expression of the gene through differential binding of transcription factors. AIMS: This study aims at examining the APOE promoter polymorphism rs769446 for possible association with AD in a Tunisian population. METHODS: Using a case-control study design, a sample of 85 patients and 90 controls were investigated for association with the rs769446 polymorphism. RESULTS: No evidence of association was found in this population upon comparison between patients and healthy controls or upon stratification by APOE É›4. CONCLUSIONS: Investigations of potential gene-gene and gene-environmental interactions for this polymorphism need to be further conducted.

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.

Posttraumatic epilepsy in Tunisia.

The medicolegal problems associated with posttraumatic epilepsy are frequently related to the assessment of the cause of traumatic brain injury and to the complexity of forensic examination. We carried out a study of 28 patients with posttraumatic epilepsy seen at the Neurological Department of Charles Nicolle Hospital in Tunis, Tunisia. We obtained a detailed history and performed neurological evaluation, EEG monitoring, and neuropsychological evaluation. For the forensic examination, we specified the date of stabilization and the damages to be compensated according to the different Tunisian forensic assessment scales. Traumatic brain injury was caused mainly by road traffic accidents. In 15 patients, posttraumatic epilepsy was controlled by treatment after 5 years. Eighteen patients, victims of road traffic accidents, requested legal compensation. The date of stabilization was determined in 21 patients. Permanent partial disability was associated with severe trauma, young age, and uncontrolled seizures.

[Optic neuropathy in Behçet's disease: a series of 18 patients]. / Les neuropathies optiques au cours de la maladie de Behçet : à propos de 18 cas.

INTRODUCTION: The objective of this study was to analyse the incidence and the main characteristics of optic neuropathy in Behçet's disease. METHODS: A retrospective review of a well-documented population of 376 Tunisian patients with Behçet's disease was performed. All patients fulfilled three or more criteria defined by the International Study Group for Behçet's Disease. The diagnosis of optic neuropathy was based on the clinical examination, visual field, visual evoked potentials and retinal angiography. RESULTS: Eighteen patients (4.7 %) presented an optic nerve involvement. The mean age at presentation of these patients (10 men and nine women) was 39.11+/-12.9 years (range 17 to 73). The mean vision at presentation was 4.2/10+/-2.9, the vision was less than 1/10 in 34.5 % of eyes. The optic neuropathy was anterior in 89 % cases (26 eyes, 90 %), posterior in one case (2 eyes, 7 %); one patient (1 eye, 3 %) presented an optic atrophy. The optic neuropathy was associated with other ocular lesions in 13 cases (72.2 %). It was an inflammatory neuropathy in four cases (22.3 %) and a stasis papilledema complicating a benign intracranial hypertension in five cases (27.8 %). Corticosteroids were administrated in 17 cases (94.4 %), cyclophosphamide in six cases (33.3 %) and anticoagulant therapy in one patient (5.6 %). After a mean duration of 79 months (range: three months to 12 years), a third of the patients (8 eyes, 27.5 %) have a visual loss. CONCLUSION: Optic neuropathy is a rare ocular involvement in Behçet's disease. It can be related to an inflammatory neuropathy, a stasis papilledema complicating a benign intracranial hypertension or an ischemic neuropathy. The association of optic neuropathy with other ocular lesions could be responsible for a diagnostic delay. Its treatment relies on systemic corticosteroids and immunosuppressive drugs. The prognosis remained poor, with a third of the patients having lost their sight.

[Pleural effusion revealing Horton's disease]. / Pleurésie révélatrice d'une maladie de Horton.

Pulmonary involvement is rare in Horton's disease. Only few cases have been reported presenting as interstitial infiltration, pulmonary artery vasculitis, pulmonary nodules and granulome formation. Pleural effusion was rarely reported. A 65-year-old male patient presented with a right pleural effusion. Horton's disease was evoked in the presence of cephalgias, an ocular involvement and general signs. Temporal artery biopsy showed giant cell arteritis. After negative etiologic work up, pleural effusion was attributed to Horton's disease. Outcome was favourable with systemic corticosteroid therapy. Pleural involvment in Horton's disease is rare and characterized the absence of specific biological and histological findings. However, pleural effusion may be a presenting manifestation of Horton's disease.

[Benzylthiouracil induced ANCA-positive vasculitis: study of three cases and review of the literature]. / Vascularite à anticorps anticytoplasme des polynucléaires neutrophiles induite par le benzylthiouracile: étude de trois observations et revue de la littérature.

INTRODUCTION: Vasculitis with antineutrophilic cytoplasmic antibodies (ANCA) have been reported in patients treated with anti-thyroid drugs, especially propylthiouracil. Benzylthiouracil, which exhibits similar structural likeness with propylthiouracil, has been recently observed to be associated with Anca-positive vasculitis. CASES REPORT: We present a study of three women with Grave's disease aged 21, 37 and 40 years, who were treated with benzylthiouracil. These patients developed vasculitis characterized by constitutional symptoms (two patients), joint pain (two patients), renal involvement (two patients), pulmonary hemorrhage (one patient) and multiple neuropathy (one patient). All patients presented p-ANCA with anti-MPO pattern. Discontinuation of benzylthiouracil and treatment with corticosteroids improved systemic involvement in all patients. CONCLUSION: Much like other anti-thyroid drugs, benzylthiouracil can be associated with ANCA-positive vasculitis. Because of the gravity of this complication, clinical monitoring is recommended in patients taking benzylthiouracil. If vasculitis develops, the anti-thyroid drug should be discontinued and corticosteroid treatment, with immunosuppressors in some cases, is initiated.

[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.

The effects of drainage with a Redon versus a conventional drain on postoperative pain and blood loss after valve replacements.

AIM: The aim of this study was to assess the influence of drainage with a Redon drain versus a conventional drain on postoperative pain and blood loss after valve replacements. METHODS: After approval by the local Ethics Committee and written informed consent, 30 patients, 20-60 years of age, scheduled for first elective valve replacement were included. After standardized anaesthetic regimens, cardiopulmonary bypass and coagulation therapy procedures and at the end of the operation, the patients were randomly assigned to 1 of 2 groups: (GI, n=15): drainage with 4 Redon drains; (GII, n=15): drainage with 2 conventional drains. Postoperative pain intensity at rest (VAS-R), during coughing and mobilization (VAS-M) in bed was independently evaluated using a visual analogue scale (VAS 100 mm) at 6 hourly intervals until 48 h after admission to the ICU (Ho). All patients received 2 g of paracetamol after obtaining the VAS score (8 g/24 h). No other analgesic agents were used. All patients were submitted to 2D echocardiography to verify the presence of pericardial effusion 24 h after surgery. Values are expressed as means. Pearson's chi squared and ANOVA (for repeated measurements) were used for statistical analysis. P<0.05 was considered significant. RESULTS: There was no statistically significant difference in the mean postoperative VAS-R and VAS-M, and in the mean postoperative total blood drainage 822.3 ml in GI, versus 704.3 ml in GII. Non pericardial effusion was found, and we did not see side-effects in any of the patients. CONCLUSIONS: We have shown that drainage with a Redon drains versus a conventional drain does not influence postoperative pain intensity and blood loss after valve replacements.

Sacral meningeal arteriovenous fistula supplied by branches of the hypogastric artery revealed by conus medullaris infarction.

OBJECTIVE: Spinal dural arteriovenous fistulas (DAVF), the most common vascular malformations of the spine, are usually supplied by branches of the intercostal or lumbar arteries. Rarely, the DAVF are fed by branches of the hypogastric artery. Only 12 such cases have been reported. CASE REPORT: A 28 year-old man presented with a 2-month history of micturition dysfunction and progressive weakness of the legs. Physical examination showed motor deficit of the lower limbs with brisk knee jerks, absent ankle reflexes and normal plantar reflexes. Cremasteric reflexes were absent. We noted hypoesthesia of the lower limbs with complete anesthesia of the perineum. MRI of the lumbo-sacral spine demonstrated an enlargement of the conus medullaris with high T2 signal intramedullary lesion. It showed also large intradural serpentine vessels. A left iliac angiogram disclosed a nidus of arteriovenous malformation (AVM) supplied by a lateral sacral artery and draining by two enlarged ascending perimedullary veins. No clinical improvement was observed after surgical removal of the AVM. CONCLUSION: The screening examination of choice for spinal DAVF remains MRI. When selective spinal arteriography is normal, we have to search for an unusual arterial supply particularly from the hypogastric artery.

[Trans-ethmoid encephaloceles]. / Les céphalocèles transethmoïdales.

We report two cases of ethmoidal cephaloceles. Ethmoidal cephaloceles are very rare and most commonly present with recurrent episodes of meningitis or sometimes as a nasal mass. Diagnosis is made at MR and CT. Such imaging studies should be obtained in patients with recurrent meningitis or patients with polypoid nasal lesions prior to biopsy.

[Primary intraosseous meningioma of the vault]. / Méningiome intra-osseux primitif de la voûte.

Primitive intra-osseous meningioma is a rare benign tumor. We report a case with a temporal localization and antro-attical extension into the petrous bone.

[Ultrasonography of acute osteomyelitis of the long bones in children. Diagnostic and prognostic value]. / Echographie des ostéomyélites aiguës des os longs chez l'enfant. Valeur diagnostique et pronostique.

Between 1991 and 1994, ultrasonography was used to investigate 90 consecutive children with acute osteomyelitis. Ultrasonographic findings were analyzed taking into account the time elapsed from first symptoms. Outcome in 47 children who were treated and followed for at least 6 months was also studied. Deep soft tissue swelling adjacent to the affected bone was found to be an early but nonspecific sign which persisted all along the course of the disease. Periosteal elevation smaller than 3 mm, secondary to exsudation or septic fluid, confirmed the disease in earliest stage and was the most frequent ultrasonographic sign in first three days of disease. Treated at that stage, total resolution was obtained in 66% of patients and stabilization, in 34% of cases, without any evolution toward chronicity. Acute osteomyelitis with subperiosteal abscess progressed toward stabilization in 66% of cases and toward chronic osteomyelitis in 8% of cases. 32% of subperiosteal abscess were ruptured; in such situation, progression to chronicity was observed in 26% of patients. Since ultrasonography has been used in our institution for the diagnosis of acute osteomyelitis, the rate of evolution to chronicity spectacularly dropped from 63% to 11%. The main advantage of ultrasonography is an earlier detection of subperiosteal collection that indicates surgical drainage without any delay.

[Evaluation of tumoral and lymph node response to neoadjuvant chemotherapy in undifferentiated nasopharyngeal carcinoma]. / Evaluation de la réponse tumorale et ganglionnaire à la chimiothérapie néoadjuvante dans les carcinomes indifférenciés du nasopharynx.

Between January 1994 and June 1995, 19 cases of nasopharyngeal carcinoma, classified N2-N3 (AJC/UICC 1987) were treated by neoadjuvant chemotherapy including cisplatin 100 mg/m2 on day 1 and epirubicin 80 mg/m2 on day 1. Following course started on day 21. A clinical and scannographic evaluation was made after 3 courses of chemotherapy. Fifty-eight percent of the patients were N3. Seventy-four percent were T3-T4. Tolerance to chemotherapy was good in 100% of the cases. A functional improvement was obtained in 14 among 16 patients who were initially symptomatic. For lymph nodes, an objective response (OR) was observed in all patients. The response was complete (CR) in 53%. A regression of primary tumor was obtained in 68% of the patients, but it was complete in 16% only. Sixty-nine percent of the patients has have a tumoral OR have a lymph node CR. Ninety percent of the patients with a complete lymph node response have a tumoral regression more than 50%. A correlation seems likely between the importance of the tumoral and the lymph node responses.

[Ultrasonography in the diagnostic approach of septic arthritis]. / L'échographie dans l'approache diagnostique des arthrites septiques.

PURPOSE OF THE STUDY: Septic arthritis is frequent in Tunisia and is responsible for orthopedic sequela. The purpose of this study was to establish the indication and the viability of ultrasound scanning in the early diagnosis of septic arthritis. MATERIAL AND METHODS: 82 patients were explored by ultrasonography for suspected septic arthritis. Mean age was 7 years (range 2 months to 37 years). All sonographic studies were performed using a 7.5 MHZ transducer. 52 patients were surgically treated or had joint aspiration. Only 39 patients had septic arthritis. The hip and the knee were the most frequent localisation (respectively 20 and 12 cases). RESULTS: Statistical analysis showed that the ultrasound scanning in the diagnosis of joint effusion had a sensitivity of 93.4 per cent and a specificity of 100 per cent. Matter floating within the joint effusion was noted in 50 per cent of septic arthritis. These changes were not found in other arthritis. The thickness of synovialis and joint capsule was not specific of septic arthritis. In hip septic arthritis (51 per cent of localisation) the mean width of the anterior synovial recess was 11.7 mm (5-20 mm). In the asymptomatic opposite hip, the mean width was 3.6 mm (2.6-5 mm). Cortical irregularities had suggested osteomyelitis of femoral neck in osteoarthritis of the hip in 4 cases. Subperiosteal abscess of the femoral neck was directly visualized in another patient. DISCUSSION AND CONCLUSION: Our expense highlights that sonography may be a useful tool in the management of patient with suspect septic arthritis. Sonography allows early diagnosis of joint effusion with high accuracy. Hyperechoic or mixed aspects of the fluid joint suggest septic origin.

[Serious urinary infections and pregnancy]. / Les infections urinaires graves et grossesse.

Retention of infected urine in the upper urinary tract which is due to obstruction is a serious condition during pregnancy. The authors report their experience on five cases and propose attitudes to adopt against such emergency. Ultrasounds allow accurate diagnosis of the obstruction and may be helpful to find its etiology. Plain X ray film could be of interest mainly for stone recognition after the third month of gestation. Surgical treatment, when possible allows either relief of obstruction and cure of the original disease, otherwise performance of percutaneous nephrostomy represents a better way of drainage until the end of pregnancy.