Les Tumeurs Parotidiennes : À Propos De 43 Cas

Les tumeurs des glandes salivaires sont rares, dominées en fréquence par les tumeurs parotidiennes. Elles sont caractérisées par une grande hétérogénéité morpho-histologique. Cliniquement, elles se manifestent le plus souvent par une masse parotidienne non spécifique. A l\'examen histologique, les formes bénignes sont les plus fréquentes dominées par l\'adénome pléomorphe. Le traitement de ces tumeurs demeure chirurgical en premier lieu. Néanmoins, la complication majeure de cette chirurgie reste la paralysie faciale pouvant être transitoire ou permanente. Le but de cet article est d\'analyser chez 43 patients suivis et traités d\'une tumeur parotidienne les différents aspects épidémio- cliniques, radiologiques et histologiques de ces tumeurs.Tumors of the salivary gland are rare, arising predominantly in the parotid gland. They display great pathomorphological variation. Clinically, this tumors manifest, often, as nonspecific parotid masses. Histopathological examination of the tumor specimens\' shows that benign tumors are more frequent, dominated by the pleomorphic adenoma. Treatment of these tumors is mostly surgical. However, facial nerve paralysis remains the main complication of parotid surgery. This study was a retrospective analysis of 43 cases of parotid tumors. Epidemical, clinical, radiological and histological features were studied. Keywords: Tumors, salivary gland, parotid gland, pleomorphic adenoma, benign tumors, surgery, facial nerve paralysis. Journal Tunisien d\'ORL et de chirurgie cervico-faciale Vol. 18 2007: pp. 29-3

Les cellulites cervico-faciales d’origine dentaire: a propos de 150 cas

Les cellulites cervico-faciales d’origine dentaire sont des infections des tissus cellulo-adipeux, de la face et du cou, ayant des potentialités extensives pouvant parfois être graves et engager le pronostic vital. Le but de ce travail est d’étudier le profil épidémioclinique et paraclinique de nos patients, d’évaluer leur prise en charge thérapeutique et leur évolution. Notre étude est rétrospective et a porté sur 150 cas de cellulites cervico-faciales d’origine dentaire colligés sur 10 ans entre 1997 et 2006. La prise en charge thérapeutique était médico-hirurgicale. Les cellulites cervico-faciales d’origine dentaire sont une pathologie potentiellement grave dont la prise en charge est coûteuse et les répercussions socio-professionnelles et économiques sont lourdes d’où l’intérêt d’une politique de prévention efficace et ciblée visant à réduire la morbidité liée à ces infections.Mots clés : cellulites cervicale et faciale, infections dentaire, prévention

Kyste hydatique cervico mediastinal a propos d’un cas

Le kyste hydatique cervico-médiastinal est extrêmement rare même en pays d’endémie. Il se manifeste généralement par une masse cervico-thoracique et il pose un problème délicat de diagnostic. Les auteurs rapportent le cas d’une femme de 53 ans, qui a consulté pour une masse sus claviculaire gauche évoluant depuis une année. Le bilan radiologique avait conclu au début à un magma d’adénopathies cervico-médiastinales. La patiente a bénéficié, alors, d’une cervicotomie exploratrice avec la découverte en per-opératoire d’un kyste hydatique cervico- médiastinal.Mots clé : Kyste hydatique, localisation cervico-médiastinale, imagerie

Une méthode rapide de reconnaissance de l'écriture arabe manuscrite

Nous décrivons une méthode rapide de reconnaissance offline de l'écriture arabe manuscrite. Le problème de la reconnaissance est découpé en différentes sous-tâches et distribué à plusieurs agents. La segmentation des mots arabes en graphèmes est effectuée en analysant le contour supérieur des composantes connexes qui nous sert de signal utile pour la détection des points de segmentation primaires PSP. Une analyse locale détermine les points de segmentation décisifs PSD. Les primitives se rapportant à chaque mot sont analysés dans un premier module de reconnaissance où la décision est donnée par maximum de vraisemblance. Un deuxième module effectue l'étiquétage des observations HMM par rapport aux caractères. Les résultats des deux modules sont analysés

Brain MRI and biological diagnosis in five Tunisians MLD patients

Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is characterized by an accumulation of sulfatides in the central and peripheral nervous system. It is due to the enzyme deficiency of the sulfatide sulfatase i.e. arylsulfatase A (ASA). we studied 5/200 cases of MLD and clearly distinguished three clinical forms. One of them presented the juvenile form; two presented the late infantile form; and two other presented the adult form. The Magnetic Resonance Imaging (MRI) of these patients showed a diffuse, bilateral and symmetrical demyelination. The biochemical diagnosis of MLD patients evidencing the low activity of ASA and sulfatide accumulation

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients

<p>Abstract</p> <p>Background</p> <p>Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder phenotypic subtypes.</p> <p>Aim of study: This study was carried out on six newly collected MPS I patients recruited from many regions of Tunisia.</p> <p>Patients and methods: Mutational analysis of the IDUA gene in unrelated MPS I families was performed by sequencing the exons and intron-exon junctions of IDUA gene.</p> <p>Results</p> <p>Two novel IDUA mutations, p.L530fs (1587_1588 insGC) in exon 11 and p.F177S in exon 5 and two previously reported mutations p.P533R and p.Y581X were detected. The patient in family 1 who has the Hurler phenotype was homozygous for the previously described nonsense mutation p.Y581X.</p> <p>The patient in family 2 who also has the Hurler phenotype was homozygous for the novel missense mutation p.F177S. The three patients in families 3, 5 and 6 were homozygous for the p.P533R mutation. The patient in family 4 was homozygous for the novel small insertion 1587_1588 insGC. In addition, eighteen known and one unknown IDUA polymorphisms were identified.</p> <p>Conclusion</p> <p>The identification of these mutations should facilitate prenatal diagnosis and counseling for MPS I in Tunisia.</p> <p>Background</p> <p>Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of the enzyme of α-L-iduronidase (IDUA, EC 3.2.1.76). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. The clinical phenotype of MPS I ranges from the very severe in Hurler syndrome (MPS IH) to the relatively benign in Scheie syndrome (MPS IS), with an intermediate phenotype designated Hurler/Scheie (MPS IH/S) <abbrgrp><abbr bid="B1">1</abbr></abbrgrp>. Isolation of complementary and genomic DNAs encoding human α -L- iduronidase <abbrgrp><abbr bid="B2">2</abbr><abbr bid="B3">3</abbr></abbrgrp> have enable the identification of mutations underlying the enzyme defect and resulting in MPS I clinical phenotype. More than 100 mutations have been reported in patients with the MPS I subtypes (Human Gene Mutation Database; <url>http://www.hgmd.org</url>). High prevalence of the common mutations p.W402X and p.Q70X has been described; both of them in the severe clinical forms <abbrgrp><abbr bid="B4">4</abbr><abbr bid="B5">5</abbr></abbrgrp>. A high prevalence of common mutation p.P533R has also been described in MPS I patients with various phenotypes <abbrgrp><abbr bid="B5">5</abbr><abbr bid="B6">6</abbr></abbrgrp>. In addition, rare mutations including single base substitution, deletion, insertion and splicing site mutation have been identified <abbrgrp><abbr bid="B7">7</abbr></abbrgrp>, indicating a high degree of allelic heterogeneity in IDUA gene.</p> <p>Here, we described two novel IDUA mutations in MPS I Tunisian patients. These lesions were homoallelic in all the patients of the six families investigated as consanguineous marriages are still frequent in Tunisia <abbrgrp><abbr bid="B8">8</abbr></abbrgrp>.</p

Patient-derived mutations within the N-terminal domains of p85α impact PTEN or Rab5 binding and regulation

The p85α protein regulates flux through the PI3K/PTEN signaling pathway, and also controls receptor trafficking via regulation of Rab-family GTPases. In this report, we determined the impact of several cancer patient-derived p85α mutations located within the N-terminal domains of p85α previously shown to bind PTEN and Rab5, and regulate their respective functions. One p85α mutation, L30F, significantly reduced the steady state binding to PTEN, yet enhanced the stimulation of PTEN lipid phosphatase activity. Three other p85α mutations (E137K, K288Q, E297K) also altered the regulation of PTEN catalytic activity. In contrast, many p85α mutations reduced the binding to Rab5 (L30F, I69L, I82F, I177N, E217K), and several impacted the GAP activity of p85α towards Rab5 (E137K, I177N, E217K, E297K). We determined the crystal structure of several of these p85α BH domain mutants (E137K, E217K, R262T E297K) for bovine p85α BH and found that the mutations did not alter the overall domain structure. Thus, several p85α mutations found in human cancers may deregulate PTEN and/or Rab5 regulated pathways to contribute to oncogenesis. We also engineered several experimental mutations within the p85α BH domain and identified L191 and V263 as important for both binding and regulation of Rab5 activit

An immunohistochemical perspective of PPARβ and one of its putative targets PDK1 in normal ovaries, benign and malignant ovarian tumours

Peroxisome proliferator-activated receptor β (PPARβ) is a member of the nuclear hormone receptor family and is a ligand-activated transcription factor with few known molecular targets including 3-phosphoinositide-dependent protein kinase 1(PDK1). In view of the association of PPARβ and PDK1 with cancer, we have examined the expression of PPARβ and PDK1 in normal ovaries and different histological grades of ovarian tumours. Normal ovaries, benign, borderline, grades 1, 2 and 3 ovarian tumours of serous, muciuous, endometrioid, clear cell and mixed subtypes were analysed by immunohistochemistry for PPARβ and PDK1 expression. All normal ovarian tissues, benign, borderline and grade 1 tumours showed PPARβ staining localised in the epithelium and stroma. Staining was predominantly nuclear, but some degree of cytoplasmic staining was also evident. Approximately 20% of grades 2 and 3 tumours lacked PPARβ staining, whereas the rest displayed some degree of nuclear and cytoplasmic staining of the scattered epithelium and stroma. The extent of epithelial and stromal PPARβ staining was significantly different among the normal and the histological grades of tumours (χ2=59.25, d.f.=25, P<0.001; χ2=64.48, d.f.=25, P<0.001). Significantly different staining of PPARβ was observed in the epithelium and stroma of benign and borderline tumours compared with grades 1, 2 and 3 tumours (χ2=11.28, d.f.=4, P<0.05; χ2=16.15, d.f.=4, P<0.005). In contrast, PDK1 immunostaining was absent in 9 out of 10 normal ovaries. Weak staining for PDK1 was observed in one normal ovary and 40% of benign ovarian tumours. All borderline and malignant ovarian tumours showed positive cytoplasmic and membrane PDK1 staining. Staining of PDK1 was confined to the epithelium and the blood vessels, and no apparent staining of the stroma was evident. Significantly different PDK1 staining was observed between the benign/borderline and malignant ovarian tumours (χ2=22.45, d.f.=5, P<0.001). In some borderline and high-grade tumours, staining of the reactive stroma was also evident. Our results suggest that unlike the colon, the endometrial, head and neck carcinomas, overexpression of PPARβ does not occur in ovarian tumours. However, overexpression of PDK1 was evident in borderline and low- to high-grade ovarian tumours and is consistent with its known role in tumorigenesis

Emerging common themes in regulation of PIKKs and PI3Ks

Phosphatidylinositol-3 kinase-related kinases (PIKKs) comprise a family of protein kinases that respond to various stresses, including DNA damage, blocks in DNA replication, availability of nutrients and errors in mRNA splicing. PIKKs are characterized by the presence of a conserved kinase domain (KD), whose activity is regulated by two C-terminal regions, referred to as PIKK-regulatory domain (PRD) and FRAP-ATM-TRRAP-C-terminal (FATC), respectively. Here, we review functional and structural data that implicate the PRD and FATC domains in regulation of PIKK activity, drawing parallels to phosphatidylinositol-3 kinases (PI3K), lipid kinases that have sequence similarity to PIKKs. The PI3K C-terminus, which we propose to be equivalent to the PRD and FATC domains of PIKKs, is in close proximity to the activation loop of the KD, suggesting that in PIKKs, the PRD and FATC domains may regulate kinase activity by targeting the activation loop