Tuberculose uro-génitale : A propos de 95 cas

Objectif: Préciser les aspects cliniques, iconographiques et thérapeutiques de la tuberculose urogénitale. Patients et méthodes: D’avril 1992 à avril 2007, 95 patients atteints de tuberculose uro-génitale ont été vus. Il s’agissait de 53 hommes et 42 femmes âgés de 18 à 72 ans. Tous nos malades ont bénéficié d’un interrogatoire, avec recherche des antécédents de tuberculose extra urinaire, d’un examen clinique, d’une créatinémie, d’une urographie intra veineuse (UIV), d’une échographie et/ou tomodensitométrie, de la recherche du bacille de Koch (BK) dans les urines, d’un ECBU, d’une cystoscopie, et d’une analyse histologique des fragments biopsiques et/ou de la pièce d’exérèse. Résultats: Le diagnostic était basé sur un faisceau d’arguments cliniques, bactériologiques et radiologiques. L’irritation vésicale représentait la manifestation clinique la plus fréquente (51,5%). L’atteinte génitale isolée était présente chez 17,8% des patients. 16,8% de nos malades avaient une insuffisance rénale inaugurale (créatinine moyenne de 24 mg/l). La recherche de BK a été réalisée chez tous les patients et n’a été positive que dans 9,4% des cas. Les anomalies à l’UIV concernaient 86% des malades avec un rein muet dans 42% des cas. On a traité tous nos patients par une chimiothérapie antibacillaire associée à la chirurgie (85,2%) et/ou à des manoeuvres endo-urologiques (20%). Avec un recul moyen de 3 ans (extrêmes allant de 1 à 9 ans), la plupart de nos patients ont bien évolué sous traitement. L’amélioration clinique a été spectaculaire avec disparition des signes cliniques chez 88% des patients. La fonction rénale a été normalisée chez 70% des cas. Conclusion: La tuberculose reste une maladie grave par son évolution latente et le diagnostic tardif. L’amélioration de son pronostic passe par la prévention et par une bonne prise en charge diagnostique et thérapeutique.Mots clés : Tuberculose uro-génitale, diagnostic, traitemen

Transitional cell carcinoma of the ovary: A rare case and review of literature

<p>Abstract</p> <p>Introduction</p> <p>Transitional cell carcinoma (TCC) of the ovary is a rare, recently recognized, subtype of ovarian surface epithelial cancer.</p> <p>Case presentation</p> <p>A 69-year-old postmenopausal woman presented with a 2-year history of progressive enlargement of an abdominal mass. Abdominal computed tomography showed a pelvic mass. CA-125 was normal. A staging operation with total abdominal hysterectomy, bilateral salpingo-oophorectomy, infracolic omentectomy and pelvic lymph node dissection was performed. After surgery, the pathologic report of the right ovarian tumour was TCC, grade 3, stage IC. The patient underwent 3 cycles of chemotherapy: carboplatin and paclitaxel. She is regularly followed up and has been disease free for 10 months</p> <p>Conclusion</p> <p>Transitional cell carcinoma (TCC) of the ovary is a rare subtype of epithelial ovarian cancer. Surgical resection is the primary therapeutic approach, and patient outcomes after chemotherapy are better than for other types of ovarian cancers.</p

Abord trans-symphysaire des ruptures posttramatiques de l’urètre postérieur chez l’adulte

Objectif: Etudier la place de la voie trans-symphysaire dans le traitement des ruptures posttraumatiques de l’urètre postérieur vues tardivement et en évaluer ses résultats. Patients et méthodes: Cinq malades ayant une rupture complète post-traumatique de l’urètre postérieur (> 2,5 cm et/ou échec d’un traitement antérieur) ont été traités dans notre service au stade de sténose urétrale. Tous les patients ont eu une urétrorraphie termino-terminale par voie trans-symphysaire seule. Une description technique et une évaluation clinique et paraclinique des résultats sur le plan mictionnel et sexuel ont été réalisées dans ce travail. Résultats: Les résultats ont été évalués avec un suivi médian de 19 mois. Aucune complication post-opératoire immédiate (saignement, fistule, douleur) n’a été rapportée. Sur le plan mictionnel, on a constaté dans tous les cas une miction satisfaisante, sans troubles de la continence et un cas de dysfonction érectile améliorée par le traitement médical. Aucun patient ne s’est plaint de troubles de la statique pelvienne. Conclusion: La voie trans-symphysaire constitue un excellent abord pour le traitement des lésions complexes de l’urètre postérieur vues tardivement. Cette technique permet d’avoir un abord direct sur l’urètre postérieur et de réaliser une suture termino-terminale sans tension. Les résultats sont satisfaisants et les inconvénients sont plus théoriques que réels.Mots clés : Rupture de l’urètre postérieur, sténose de l’urètre postérieur, urétrorraphie, voie transsymphysair

Preferential binding of a stable G3BP ribonucleoprotein complex to intron-retaining transcripts in mouse brain and modulation of their expression in the cerebellum.

Neuronal granules play an important role in the localization and transport of translationally silenced messenger ribonucleoproteins (mRNPs) in neurons. Among the factors associated with these granules, the RNA-binding protein G3BP1 (stress-granules assembly factor) is involved in neuronal plasticity and is induced in Alzheimer's disease. We immunopurified a stable complex containing G3BP1 from mouse brain and performed High-Throughput Sequencing and CrossLinking Immunoprecipitation (HITS-CLIP) to identify the associated RNAs. The G3BP-complex contained the deubiquitinating protease USP10, CtBP1 and the RNA binding proteins Caprin-1, G3BP2a and SFPQ (Splicing Factor Proline and Glutamine rich, or PSF). The G3BP-complex binds preferentially to transcripts that retain introns, and to non-coding sequences like 3'UTR and long non-coding RNAs. Specific transcripts with retained introns appear to be enriched in the cerebellum compared to the rest of the brain and G3BP1 depletion decreased this intron retention in the cerebellum of G3BP1 knockout mice. Among the enriched transcripts, we found an overrepresentation of genes involved in synaptic transmission, especially glutamate-related neuronal transmission. Notably, G3BP1 seems to repress the expression of the mature Grm5 (metabotropic glutamate receptor 5) transcript, by promoting the retention of an intron in the immature transcript in the cerebellum. Our results suggest that G3BP is involved in a new functional mechanism to regulate non-coding RNAs including intron-retaining transcripts, and thus have broad implications for neuronal gene regulation, where intron retention is widespread. This article is protected by copyright. All rights reserved

Unicentric castleman's disease located in the lower extremity: a case report

<p>Abstract</p> <p>Background</p> <p>Castleman's disease is a rare form of localized lymph node hyperplasia of uncertain etiology. Although the mediastinum is the most common site of involvement, rare cases occurring in lymph node bearing tissue of other localization have been reported, including only a few intramuscular cases. Unicentric and multicentric Castleman's disease are being distinguished, the latter harboring an unfavorable prognosis.</p> <p>Case Presentation</p> <p>Here, we present a case of unicentric Castleman's disease in a 37-year-old woman without associated neoplastic, autoimmune or infectious diseases. The lesion was located in the femoral region of the right lower extremity and surgically resected after radiographic workup and excisional biopsy examinations. The tumor comprised lymphoid tissue with numerous germinal centers with central fibrosis, onion-skinning and rich interfollicular vascularization. CD23-positive follicular dendritic cells were detected in the germinal centers and numerous CD138-positive plasma cells in interfollicular areas. The diagnosis of mixed cellularity type Castleman's disease was established and the patient recovered well.</p> <p>Conclusions</p> <p>In conclusion, the differential diagnosis of Castleman's disease should be considered when evaluating a sharply demarcated, hypervascularized lymphatic tumor located in the extremities. However, the developmental etiology of Castleman's disease remains to be further examined.</p

The AIRE-230Y Polymorphism Affects AIRE Transcriptional Activity: Potential Influence on AIRE Function in the Thymus

Background The autoimmune regulator (AIRE) is expressed in the thymus, particularly in thymic medullary epithelial cells (mTECs), and is required for the ectopic expression of a diverse range of peripheral tissue antigens by mTECs, facilitating their ability to perform negative selection of auto-reactive immature T-cells. The expression profile of peripheral tissue antigens is affected not only by AIRE deficiency but also with variation of AIRE activity in the thymus. Method and Results Therefore we screened 591bp upstream of the AIRE transcription start site including AIRE minimal promoter for single nucleotide polymorphism (SNPs) and identified two SNPs -655R (rs117557896) and -230Y (rs751032) respectively. To study the effect of these variations on AIRE promoter activity we generated a Flp-In host cell line which was stably transfected with a single copy of the reporter vector. Relative promoter activity was estimated by comparing the luciferase specific activity for lysates of the different reporter AIRE promoterreporter gene constructs including AIRE-655G AIRE-230C, AIRE-655G AIRE-230T and AIRE-655A AIRE-230C. The analysis showed that the commonest haplotype AIRE-655G AIRE-230C has the highest luciferase specific activity (p<0.001). Whereas AIRE-655G AIRE-230T has a luciferase specific activity value that approaches null. Both AIRE promoter polymorphic sites have one allele that forms a CpG methylation site which we determined can be methylated in methylation assays using the M.SssI CpG methyltransferase. Conclusion AIRE-230Y is in a conserved region of the promoter and is adjacent to a predicted WT1 transcription factor binding site, suggesting that AIRE-230Y affects AIRE expression by influencing the binding of biochemical factors to this region. Our findings show that AIRE655GAIRE-230T haplotype could dramatically alter AIRE transcription and so have an effect on the process of negative selection and affect susceptibility to autoimmune conditions

SpliceDisease database: linking RNA splicing and disease

RNA splicing is an important aspect of gene regulation in many organisms. Splicing of RNA is regulated by complicated mechanisms involving numerous RNA-binding proteins and the intricate network of interactions among them. Mutations in cis-acting splicing elements or its regulatory proteins have been shown to be involved in human diseases. Defects in pre-mRNA splicing process have emerged as a common disease-causing mechanism. Therefore, a database integrating RNA splicing and disease associations would be helpful for understanding not only the RNA splicing but also its contribution to disease. In SpliceDisease database, we manually curated 2337 splicing mutation disease entries involving 303 genes and 370 diseases, which have been supported experimentally in 898 publications. The SpliceDisease database provides information including the change of the nucleotide in the sequence, the location of the mutation on the gene, the reference Pubmed ID and detailed description for the relationship among gene mutations, splicing defects and diseases. We standardized the names of the diseases and genes and provided links for these genes to NCBI and UCSC genome browser for further annotation and genomic sequences. For the location of the mutation, we give direct links of the entry to the respective position/region in the genome browser. The users can freely browse, search and download the data in SpliceDisease at http://cmbi.bjmu.edu.cn/sdisease