Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia.

The contribution of BRCA1/BRCA2 mutations to hereditary breast cancer in the Tunisian population has not been accurately estimated. The purpose of our study was to estimate the incidence and spectrum of pathogenic mutations in BRCA1/2 genes in early onset and familial breast/ovarian cancer among Tunisian women. To identify predictive factors for BRCA1/2 mutations, we screened the entire coding sequences and intron/exon boundaries of BRCA1/BRCA2 genes in 48 patients by direct sequencing. Twelve pathogenic mutations were detected (25%); three in BRCA1 (c.211dupA in four families, c.5266dupC in three families and c.1504_1508delTTAAA in one family) and two novel mutations in BRCA2 (c.1313dupT in two families and c.7654dupT in two families). We also identified 23 different polymorphisms and unclassified variants. These results indicate that our population has a spectrum of recurrent BRCA mutations.

[Neurologic manifestations of sarcoidosis: A study of 18 cases]. / Les manifestations neurologiques de la sarcoïdose: étude de 18 cas.

INTRODUCTION: Sarcoidosis is a multisystemic granulomatous disease of unknown aetiology. Neurologic manifestations are found in 5 to 10% of cases. PATIENTS AND METHODS: We conducted a retrospective study over 6-year period including 18 patients diagnosed with neurosarcoidosis in the Neurologic department of the Military Hospital of Instruction of Tunis. Clinical, radiological, therapeutic features and outcome were studied. RESULTS: The mean age was 43.44 years. Neurologic signs were the first symptom in 10 cases. Peripheral nervous system impairment was often found. Meningitis was noted in 8 cases. Biological tests are not contributive for the diagnosis. The brain magnetic resonance imaging was pathologic in 10 cases. Corticosteroids were administrated in the majority of cases. Eight patients did not show any sign of improvement. Ten cases improved with treatment. DISCUSSION AND CONCLUSION: Diagnosis of neurosarcoidosis is difficult because of its clinical and radiological polymorphism. It is based on a clinical history suggestive of neurosarcoidosis, laboratory, imaging and histological studies.

Overexpression of long non-coding RNA MCM3AP-AS1 in breast cancer tissues compared to adjacent non-tumour tissues.

BACKGROUND: Altered expression of several long non-coding RNAs (lncRNAs) has been described in numerous malignancies, including breast cancer, and some may have a role in carcinogenesis. We hypothesised differences in the expression of lncRNA MCM3AP-AS1 in breast cancer tissues compared to nearby healthy tissues and potential links with clinical features. METHODS: We tested our hypothesis in 102 pairs of breast cancer tumours and adjacent non-tumour tissues from female patients. After RNA extraction, cDNA synthesis was performed for all specimens. The differential gene expression was assessed using Quantitative Real-Time PCR Technique. RESULTS: There was a significant overexpression of the lncRNAs in tumour tissues as compared with their adjacent non-tumour tissues (P < 0.001). Expression was significantly linked with the tumour oestrogen receptor expression (P = 0.023) and tumour progesterone receptor expression (P < 0.001). ROC analysis showed an AUC of 0.67 (95% CI 0.60-0.75) (P < 0.001) with sensitivity and specificity of 58% and 76%, respectively. CONCLUSION: The lncRNA MCM3AP-AS1 may be a novel breast cancer lncRNA with high expression levels in breast cancer patients' tissue. Further investigations are needed to confirm its uses as a potential molecular marker and therapeutic target.

[Adult-onset opsoclonus-myoclonus-ataxia syndrome revealing rubella meningoencephalitis]. / Syndrome opsoclonus-myoclonus-ataxie révélant une méningo-encéphalite rubéolique chez un adulte.

INTRODUCTION: Opsoclonus-myoclonus-ataxia (OMS) is a rare clinical syndrome, of paraneoplastic infectious, post-infectious, post-vaccinal or idiopathic origin. CASE REPORT: We report a 24-year-old young man who presented with gait disorder preceded by a febrile rash and retroauricular lymph nodes. Three days before admission, he had headache, vertigo, nausea and vomiting followed by gait unsteadiness and movement disorders of limbs and eyes. On examination, he had OMS syndrome. Brain MRI, total body scan, MIBG scintigraphy, tumor markers and onconeural antibodies were normal. Cerebro-spinal fluid (CSF) analysis showed lymphocytic meningitis. Positive serum and CSF immunoglobulin M antibody against rubella virus was demonstrated. He received acyclovir with full recovery within two weeks. We discuss the peculiarities of this association with a literature review. CONCLUSION: This observation enlarges the spectrum of neurological manifestations of rubella as well as that of OMS etiologies.

[Prevention of hypotension during spinal anesthesia for elective caesarean section: coloading with HAE 130/0.4 vs normal saline solution]. / Prévention de l'hypotension induite par la rachianesthésie au cours de la césarienne programmée : coremplissage par HEA 130/0,4 vs sérum salé isotonique.

OBJECTIVE: The aim of this study was to compare the efficacy of HES 130/0.4 coloading compared to normal saline solution for prevention of hypotension during spinal anesthesia for elective caesarean section. STUDY DESIGN: Prospective, randomized. PATIENTS AND METHODS: One hundred and twenty ASA I and II patients scheduled for elective caesarean section were recruited. Patients were randomized to receive either 500mL of HES 130/0.4 (Voluven(®)) coloading (GroupV) or 500mL of normal saline solution coloading (GroupC). Spinal anesthesia technique and ephedrine administration were standardized in both groups. The primary endpoint was the incidence of maternal hypotension during spinal anesthesia for elective caesarean section. RESULTS: Hypotension occurred in 43 patients in group C and 24 patients in group V (p=0.001). Ephedrine consumption was significantly lower in group V (P=0.005). Nausea, vomiting and headache incidence was higher in group C (p=0.006). Apgar scores and umbilical blood gazes were comparable between groups. CONCLUSION: HES 130/0.4 coload was more effective than normal saline solution to prevent hypotension following spinal anesthesia for elective cesarean section. HES 130/0.4 coload reduced the incidence, the duration of longest hypotension, the need for ephedrine and the adverse maternal effects.