Introduction L’hyperparathyroïdie primaire peut s’inscrire dans un syndrome de prédisposition héréditaire avec mutation germinale principalement de MEN1 ou CDC73 . Nous présentons l’étude familiale ...réalisée suite à la découverte d’une hyperparathyroïdie primaire par adénome chez un patient de 16 ans. Observation L’analyse moléculaire a permis d’identifier une délétion hétérozygote des exons 7 à 13 du gène CDC73/HRPT2 . Cette délétion invalide également un allèle du gène B3GALT2 , gène chevauchant de CDC73/HRPT2 , codant une galactosyl-transférase. L’enquête génétique réalisée chez ses parents, tous deux asymptomatiques, a montré que le père n’était pas porteur de la délétion. L’ADN maternel montrait la présence de trois copies du gène CDC73/HRPT2 pour les exons 1 à 6 et 14 à 17, et deux copies pour les exons 7 à 13. Des analyses complémentaires par CGH array et FISH ont confirmé la délétion identifiée chez le fils ainsi qu’une duplication comprenant les gènes CDC73 , UCHL5 , GLRX2 , TROVE2 et B3GALT2 sur le chromosome 20. Discussion La mère du propositus est porteuse de 3 copies de plusieurs gènes. Concernant CDC73/HRPT2 , deux copies sont localisées en 1q31.2 : une normale et une délétée, la troisième correspondant au fragment dupliqué inséré dans le chromosome 20. L’absence de symptôme chez elle laisse supposer que la duplication de CDC73 compense la copie délétée de 7 exons. Néanmoins, les conséquences fonctionnelles de ces multiples évènements génétiques n’ayant jamais été étudiées, un travail bibliographique relatif à tous ces gènes est en cours pour poser les bases rationnelles d’un suivi médical personnalisé pour ces deux patients.
To determine the usefulness of mid-urethral slings (MUS) in the surgical management of women presenting with urinary stress incontinence (USI) METHOD: A consensus committee of multidisciplinary ...experts (CUROPF) was convened and focused on PICO questions concerning the efficacy and safety of MUS surgery compared to other procedures and concerning which approach (retropubic (RP) vs transobturator (TO)) should be proposed as a first-line MUS surgery for specific subpopulations (obese; intrinsic sphincteric deficiency (ISD); elderly) RESULTS: As compared to other procedures (urethral bulking agents, traditional slings and open colposuspension), the MUS procedure should be proposed as the first-line surgical therapy (strong agreement). MUS surgery can be associated with complications and proper pre-operative informed consent is mandatory (strong agreement). Mini-slings (SIS/SIMS) should only be proposed in clinical trials (strong agreement). Both RP and TO approaches may be proposed for the insertion of MUS (strong agreement). However, if the woman is willing to accept a moderate increase in per-operative risk, the RP approach should be preferred (strong agreement) since it is associated with higher very long-term cure rates and as it is possible to completely remove the sling surgically if a severe complication occurs. The RP approach should be used for the insertion of MUS in a woman presenting with ISD (strong agreement). Either the RP or TO approach should be used for the insertion of MUS in an obese woman presenting with USI (strong agreement). In very obese women (BMI ≥35-40kg/m
), weight loss should be preferred prior to MUS surgery and bariatric surgery should be discussed (strong agreement) CONCLUSION: The current Opinion provides an appropriate strategy for both the selection of patients and the best therapeutic approach in women presenting with USI.
Inflammatory and sensory chronic bladder diseases have a significant impact on quality of life. These pathologies share alteration of the layer between urine and urothelium, making the use of topical ...agents appropriate.
Review the efficacy and tolerance of intravesical treatments for these pathologies. Give practical guidelines for the use of agents currently available in France.
A narrative review was performed in March 2021 using PubMed/MEDLINE, Google Scholar and the international guidelines. Pharmaceutical companies and pharmacies were interviewed.
Although numerous molecules were tested over the last 5 decades, only dimethylsulfoxyde and glycosaminoglycans are available in France today. Results are promising: response rates are up to 95% and 84% respectively in bladder pain syndrome. In urinary tract infections, glycosaminoglycans could decrease annual number of cystitis by 2.56 (95% confidence interval (CI) -3.86, -1.26; P<0.001) and increase the time to first cystitis recurrence by 130 days (95% CI: 5.84 - 254.26; P=0.04). In radiation cystitis, results could be comparable to hyperbaric oxygen regarding pain and frequency of voiding (-1.31±1.3 visual analogic scale et -1.5±1.4 voiding per day, respectively, at 12 months, P<0.01). However, literature has a low level of evidence.
Chronic bladder diseases have limited treatment options. Intravesical agents are a good alternative, although their cost is significant and their outcome uncertain.
Placement of a mid-urethral sling is the gold standard in the surgical management of stress urinary incontinence in women in France. The cure rate of this material is no longer to be demonstrated, ...but the per- and post-operative complications are currently the subject of a growing controversy not only in Europe but also across the Channel and across the Atlantic, having led to the modification of operative indications. In France, recommendations are also evolving with a stricter framework for indications for surgery by multidisciplinary consultation meeting and an obligation for postoperative follow-up in the short and long term.
In this context, CUROPF realized a review of the literature bringing together the available scientific evidence concerning the occurrence of per- and post-operative complications relating to the installation of mid urethral sling. The bibliographic search was carried out using the Medline database and 123 articles were selected.
Analysis of the data highlights various complications, depending on the implanted material, the patient and the indication for surgery. The retro-pubic mid urethral sling provides more bladder erosion during surgery (up to 14%), more suprapubic pain (up to 4%) and more acute urinary retention (up to 19,7%) and postoperative dysuria (up to 26%). The trans obturator mid-urethral sling is responsible for more vaginal erosion during the operation (up to 10,9%), more lower limb pain of neurological origin (up to 26,7%). The risk of developing over active bladder is similar in both procedures (up to 33%). But these risks of complications must be balanced by the strong impact of urinary incontinence surgery on the overall quality of life of these women.
Thus, surgical failure and long term complications exist but should not limit the surgical management of stress urinary incontinence with mid urethral tape. Women should be treated with individualized decision-making process and long-term follow -up is necessary.
