18 research outputs found

    Verrucous Carcinoma of the Vulva: A Case Report and Review of the Literature.

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    Verrucous carcinoma of the vulva is a rare lesion (1). Affecting essentially postmenopausal women, this lesion is a distinct and particular entity in vulval carcinoma classification and its scalability is uncertain and unpredictable. Here, we present a case concerning a 48-year-old patient, without follow-up after a condyloma acuminate of the vulva (large left lip). The origin of this case will be discussed in this article. The treatment decided was only surgical. A review of literature shows the rarity of this lesion of the female genital tract

    Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

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    Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem prate inopathy (MSP). hnRNPA1 is part of the group of RNA-binding proteins (RBPs) that assemble with RNA to form RNPs. hnRNPs are concentrated in the nucleus and function in pre-mRNA splicing, mRNA stability, and the regulation of transcription and translation. During stress, hnRNPs, mRNA, and other RBPs condense in the cytoplasm to form stress granules (SGs). SGs are implicated in the pathogenesis of (neuro-)degenerative diseases, including ALS and inclusion body myopathy (IBM). Mutations in RBPs that affect SG biology, including FUS, TOP-43, hnRNPA1, hnRNPA2B1, and TIA1, underlie ALS, IBM, and other neurodegenerative diseases. Here, we characterize 4 potentially novel HNRNPA1 mutations (yielding 3 protein variants: *321Eext*6, *321Qext*6, and G304Nfs*3) and 2 known HNRNPA1 mutations (P288A and D262V), previously connected to ALS and MSP, in a broad spectrum of patients with hereditary motor neuropathy, ALS, and myopathy. We establish that the mutations can have different effects on hnRNPA1 fibrillization, liquid-liquid phase separation, and SG dynamics. P288A accelerated fibrillization and decelerated SG disassembly, whereas *321Eext*6 had no effect on fibrillization but decelerated SG disassembly. By contrast, G3D4Nfs*3 decelerated fibrillization and impaired liquid phase separation. Our findings suggest different underlying pathomechanisms for HNRNPA1 mutations with a possible link to clinical phenotypes.Functional Genomics of Muscle, Nerve and Brain Disorder

    Functional outcomes in symptomatic versus asymptomatic patients undergoing incisional hernia repair: Replacing one problem with another? A prospective cohort study in 1312 patients

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    Background: Incisional hernias can be associated with pain or discomfort. Surgical repair especially mesh reinforcement, may likewise induce pain. The primary objective was to assess the incidence of pain after hernia repair in patients with and without pre-operative pain or discomfort. The secondary objectives were to determine the preferred mesh type, mesh location and surgical technique in minimizing postoperative pain or discomfort. Materials and methods: A registry-based prospective cohort study was performed, including patients undergoing incisional hernia repair between September 2011 and May 2019. Patients with a minimum follow-up of 3–6 months were included. The incidence of hernia related pain and discomfort was recorded perioperatively. Results: A total of 1312 patients were included. Pre-operatively, 1091 (83%) patients reported pain or discomfort. After hernia repair, 961 (73%) patients did not report pain or discomfort (mean follow-up = 11.1 months). Of the pre-operative asymptomatic patients (n = 221), 44 (20%, moderate or severe pain: n = 14, 32%) reported pain or discomfort after mean follow-up of 10.5 months. Of those patients initially reporting pain or discomfort (n = 1091), 307 (28%, moderate or severe pain: n = 80, 26%) still reported pain or discomfort after a mean follow-up of 11.3 months postoperatively. Conclusion: In symptomatic incisional hernia patients, hernia related complaints may be resolved in the majority of cases undergoing surgical repair. In asymptomatic incisional hernia patients, pain or discomfort may be induced in a considerable number of patients due to surgical repair and one should be aware if this postoperative complication

    La suspension latérale cœlioscopique, une autre façon de traiter les prolapsus génitaux [Laparoscopic lateral suspension, another way to treat genital prolapse]

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    The laparoscopic sacrocolpopexy is the treatment of choice of pelvic organ prolapses since more than twenty years. The laparoscopic lateral suspension with mesh is an alternative technique. Its originality is the subperitoneal passing of the lateral arm of the mesh in the lateral abdominal wall, leaving the skin above the iliac crest, in a place without risks of vascular, nerve, bowel injuries. We report in this article the results of the three main publications on the subject. The indications are cystocele and apical descent. It can be envisaged when the access of the promontory is difficult; for instance in the presence of obesity, adhesions, sigmoid megacolon, or low position of the left common iliac vein, partially covering the promontory. It is also a practical technique for surgeons having a moderate experience of the promontory access

    Laparoscopic Lateral Suspension: Benefits of a Cross-shaped Mesh to Treat Difficult Vaginal Vault Prolapse.

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    To show an original technique of laparoscopic lateral suspension (LLS) with a precut mesh in a difficult case of vaginal vault prolapse. Step-by-step descriptions of the technique using videos (educational video). Vaginal vault prolapse affects up to 1% of patients who had a hysterectomy. Sacrocolpopexy is considered the gold standard in the treatment of apical pelvic organ prolapse. However, dissection at the level of the promontory may be challenging, particularly in obese patients or when an anatomic variation exists. This may be associated with rare but serious neurologic or ureteral morbidity as well as life-threatening vascular injury. LLS with mesh represents an alternative procedure, avoiding dissection at the promontory. The originality of this video is to describe the procedure of LLS in a difficult case of vaginal vault prolapse related to adhesions and difficulties of fascia cleavage. The use of a precut cross-shaped mesh simplified the technique and facilitated the attachment of the mesh to the fascia and the lateral suspension for a smaller period of time. This point is not negligible, especially in cases with technical difficulties. Institutional review board approval was obtained through the local ethics committee of Geneva University Hospitals (Canadian Task Force classification III). After dissections, positioning of the mesh on the dome and on the anterior and posterior vaginal walls is explained. The out-in technique of lateral suspension with the specific mesh is described. In this difficult case of vaginal vault prolapse, the LLS using a precut cross-shaped mesh was placed in good conditions, providing the patient with a minimum risk of complications and with the benefits of minimally invasive approach

    Les réflexes sacrés etagés dans l'etude de la névralgie pudendalte: validation anatomique

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    Pudendal neuropathy is common. The diagnosis is clinical and the confirmation is electrophysiological. Distal pudendal nerve latencies have been used but they are unspecific and do not allow to localize the site of compression. A preliminary electrophysiological study has suggested separate innervations of the anterior and the posterior anal sphincter quadrants, so diverging from what main anatomy textbooks teach. By detailed dissections of pudendal nerve region we can confirm a dichotomy in the innervation of the two quadrants. Therefore, it seems feasible, by using the differences of staged sacral reflexes, to better localize the compressive neuropathy, with a stimulation of the clitoris and by recording latencies of different muscles

    Place de la laparoscopie dans le traitement du cancer de l'endomètre [Laparoscopy in the management of endometrial cancer]

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    Les récents progrès de la laparoscopie ont modifié l'approche chirurgicale des patientes atteintes d'un cancer de l'endomètre. Le centre Swissendos Fribourg en collaboration avec l'AGO (Groupe de travail pour la gynécologie oncologique) et l'AGE (Groupe de travail pour la gynécologie endoscopique) ont entrepris d'élaborer un consensus basé sur l'évidence pour la pratique de la laparoscopie dans le traitement du cancer de l'endomètre. L'objectif a été de définir une approche propre à la Suisse en fournissant aux praticiens une aide à la prise en charge. Recent advance in laparoscopy have changed the surgical approach of endometrial cancer patients. The Swissendos Center, Fribourg, in collaboration with AGO (Groupe de travail pour la gynécologie oncologique) and AGE (groupe de travail pour la gynécologie endoscopique) have established a consensus based on the available evidence for the use of laparoscopy in the management of patients with endometrial cancer The main objective was to define Swiss clinical practice guidelines appropriate to the country and consistent with the needs of the physicians
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