286 research outputs found

    The periodic repolarization dynamics index identifies changes in ventricular repolarization oscillations associated with music-induced emotions

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    The effect of music on cardiovascular dynamics may be useful in a variety of clinical settings. The aim of this study was to assess whether listening to music characterized by different emotional valence affected ventricular periodic repolarization dynamics (PRD), a recently-proposed non-invasive index of sympathetic ventricular modulation. The 12 lead ECG was recorded in 71 healthy volunteers exposed to six 90 s excerpts of pleasant music and unpleasant acoustic stimuli as well as six 90 s intervals of silence. A 20 s interval was allowed between excerpts during which the participants were asked to evaluate the previous excerpt. A simulation study was carried out to assess the capability of the algorithm of tracking fast small changes in PRD. The simulation study shows that the algorithm implemented in this study has a time-frequency resolution sufficient to capture the fast dynamics observed in this study. PRD were higher during listening to both pleasant and unpleasant music than during silence. There was a (weak) trend for the PRD to be higher during listening to pleasant than unpleasant music that may indicate the existence of a (weak) interaction between the valence of music-induced emotions and sympathetic ventricular response. The PRD significantly increased during the 20 s interval in between conditions, possibly reflecting a sympathetic response to the evaluation task and/or to the expectation of the following excerpt

    Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review

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    : Charcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical features. For these disorders, more than 100 genes have been implicated as causal factors, with mutations in the PMP22 being one of the most common. The demyelinating type (CMT1) affects more than 30% of the CMTs patients and manifests with motor and sensory dysfunctions of the peripheral nervous system mainly starting with slow progressive weakness of the lower extremities. We report here a 12 year- old boy presenting with typical features of CMT1 type, hearing impairment, and inguinal hernia who at the next-generation sequence analysis displayed a concomitant presence of two variants: the c.233 C>T p.Ser 78Leu of the MPZ gene (NM_000530.6) characterized as pathogenetic and the c.1403 G>A p.Arg 468His of the MFN2 gene (NM_014874.3) characterized as VUS. Concomitant variant mutations in CMTs have been uncommonly reported. The role of these gene mutations on the clinical expression and a literature review on this topic is discussed

    Use of transperineal fine needle aspiration of seminal vesicles to retrieve sperm in a man with obstructive azoospermia

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    OBJECTIVE: To report the successful and feasible use of transperineal fine needle aspiration of seminal vesicles (FNASV) for sperm retrieval in obstructive azoospermia. DESIGN: Case report. SETTING: Outpatient care in institutional clinic. PATIENT(S): A 31-year-old man with obstructive azoospermia due to a middle prostatic m\ufcllerian cyst. INTERVENTION(S): Transperineal FNASV using a coaxial 17-gauge TruGuide needle. MAIN OUTCOME MEASURE(S): Feasibility of sperm retrieval suitable for future in vitro fertilization. RESULT(S): Transperineal FNASV made it possible to aspirate 11 mL of fluid with a sperm count of 100 million/mL and 15% motility. This sample was cryopreserved for in vitro fertilization using intracytoplasmic sperm injection. CONCLUSION(S): Transperineal FNASV using a coaxial needle may be a further method for sperm retrieval to add to the repertoire of assisted reproduction technologies

    SACRAL NEUROMODULATION IN THE MANAGEMENT OF LOWER URINARY TRACT DYSFUNCTIONS: A NEUROPHYSIOLOGICAL EVALUATION

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    Hypothesis / aims of study Currently, sacral neuromodulation (SNM) stands as the single licensed second-line treatment for the management of intractable overactive bladder syndrome (OAB). SNM can be considered a promising, potential solution to bladder dysfunctions which have a serious impact on patients\u2019 health status and quality of life, in carefully selected patients. However several questions are still unanswered, regarding the following topic: patient selection, prognostic factors, mechanism of action, complications and revision rates, effects on central and peripheral nervous system. Neurophysiology studies could be employed to provide more evidence on SNM mechanism of action and peripheral effect. The aim of this study was to evaluate clinical and neurophysiologic characteristics of patients with lower urinary tract dysfunctions (LUTD) undergone SNM implant trying to better understand neurophysiologic modification pre- and post-implant, defining responders\u2019 pre-implant neurophysiological characteristics. Study design, materials and methods Data (demographics, medical history,urologic investigations, and diagnosis) from all patients attending our institution from February 2006 to September 2009 for a SNM implant were collected. All patients underwent a pre-implant neurophysiologic evaluation as follows: Pudendal Nerve Somatosensory Evoked Potentials (PN-SSEPs); bilateral external anal sphincter electromyography (EAS-EMG); evaluation of the bilateral pudendal-anal reflex (PAR); Electromyographic and neurographic studies of lower limbs. A post-implant neurophysiological evaluation was performed in all implant removal candidates. For comparison Student's t test was used. Results A total of 22 consecutive patients (mean age 63.1 years) attending our institution (19 women and 3 men), with refractory overactive bladder (OAB) (54.5%), non-obstructive urinary retention (UR) (27.3%), mixed urinary incontinence (9.1%); chronic pelvic pain (CPP) (9.1%) underwent a permanent SNM implant. At a mean follow-up of 3.5 months (range 2-24 months), half of the patients have their implants removed (tables I-II). Table III shows pre- and post-implant PN-SSEPs findings in patients with durable beneficial from SNM. In patients undergone implant removal, values of PN-SSEPs, EAS-EMG and PAR were normal apart one case with an increase in bilateral pudendal nerve latency. Figure I shows pre-implant EAS-EMG findings in patients having beneficial from SNM. Pre-implant EAS-EMG findings were normal in 90.9% of patient undergone implant removal. Table IV summarizes pre- and post-implant R1 and R2 latencies of PAR in patients with effective SNM implant. Interpretation of results The greater effectiveness of SNM has been observed in patients with neurological damage neurophysiologically documented. To date there are no definitive data about the exact mechanism of action of SNM although it is conceivable a modulation on the somato-sensory afferents as well as a secondary effect on both somatic (pudendal nerve) and autonomic efferent motor pathways. Concluding message Our results suggest that the neurophysiologic exploration of the pelvic floor is an important step for the identification of suitable candidates for treatment with SNM. Further well-designed trials are needed in order to better define the role of neurophysiology in SNM, not just in identifying appropriate candidates for intervention, but also to guide the surgeon in more accurate positioning of the electrodes, using intraoperative monitoring, and to change the parameters of stimulation in patients unresponsive to treatment. Table I. Characteristics of patients undergon

    ROBOT-ASSISTED LAPAROSCOPIC HYSTEROSACROPEXY FOR PELVIC ORGAN PROLAPSE

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    Introduction Pelvic organ prolapse (POP) surgery can be performed either transperineally or transabdominally. The individual woman\u2019s surgical history and goals, as well as her individual risk for surgical complications, prolapse recurrence and de novo symptoms impact the selection of surgical route. Transabdominal repairs are the most common surgical procedures for POP and are associated to recurrence rates up to 10%, whereas transperineal approaches are reported to be a source of higher recurrence rates. Transabdominal procedures can be performed either by laparotomy or by laparoscopy. Recently several series have reported that laparoscopic approach to treat POP (with or without robotic assistance) is feasible and safe with good short and intermediate-term results, comparable to open approaches. This paper describes the technical aspects of robot-assisted laparoscopic hysterosacropexy (RALHSP) using the da Vinci surgical system. Design Since 2006, 10 consecutive patients with POP (mean age 54.5 years), who wished to preserve the uterus, underwent RALHSP as single reconstructive procedure. Two surgeons performed all procedures with the same technique. All complications were collected at a 90-day follow-up using the standardised Clavien classification system. The following outcomes were evaluated: operative time, blood loss, complications, in hospital stay, catheterization time, cure rate. The surgical steps were: bilateral dissection of the perimetrium; identification and extraperitonealization of the uterine cervix; incision of the peritoneum at presacral level and distal to the cervix; placement of a 20 x 2.5 cm polypropylene mesh, willing to embrace the cervix, secured to the anterior longitudinal sacral legament with 0 Tycron stitches; mesh extraperitonealization. Results Al procedures were performed successfully using the Robot-assisted approach. No additional reconstructive procedures were thought to be necessary at the end of surgery. The mean operative time was 103 minutes; the mean blood loss was 18 mL. Neither intra- nor major post-operative complications occurred. According to the Clavien classification system, 4 patients (40%) had grade 1 early complications (two nausea episodes, two electrolyte disturbance); and one patient (10%) had grade 2 complication (diarrhoea). At a mean follow-up of 9.3 months all patients declared themselves satisfied with the anatomical and functional results achieved. Conclusion RALHSP represents an effective option for the management of POP in selected women who wish to preserve the uterus. Moreover da Vinci robotic system allows performing similar procedures to those performed by standard laparoscopy or laparotomy without increasing the morbidity rate when compared to standard laparoscopy, and allows the same functional results

    SACRAL NEUROMODULATION FOR THE TREATMENT OF REFRACTORY LOWER URINARY TRACT DYSFUNCTION: RESULTS FROM A MULTICENTER STUDY

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    Hypothesis / aims of study Sacral neuromodulation (SNM) has been used as a safe, effective treatment option for patients with lower urinary tract dysfunction (LUTD). Several clinical studies demonstrated its positive effects on refractory urge incontinence, non-obstructive urinary retention, urgency frequency syndrome, as well as on other non urological disorders, such as faecal incontinence and chronic constipation. The aim of this research project was to evaluate the efficacy and safety of sacral neuromodulation on the management of LUTD refractory to the standardised first line treatment options. Study design, materials and methods We retrospectively collected and evaluated data from patients undergoing SNM between September 2001 and November 2010 in 4 Urological Centres of Northeast Italy. The patients were affected by Overactive Bladder Syndrome (OAB) and non-obstructive Urinary Retention (UR). All the patients were evaluated with voiding diaries, before and after implantation. Patients included in the present evaluation were followed in a network of 4 Italian urological centres which participate to the Italian Clinical Service project - a national urological database and medical care project aiming at describing and improving the use of implantable urological devices in the Italian clinical practice. To evaluate the patient reported outcome (PRO) of the impact of SNM on refractory OAB, we retrospective revised files from all implanted patients who completed pre and post-operatively the King\u2019s Health Questionnaire (KHQ). KHQ is a specific assessment instrument of the heath related quality of life (HRQoL) for patients with OAB, and incontinence symptoms. It consists of 21 items distributed in nine dimensions: general health (GH), incontinence impact (II), role limitations (RLs), personal limitations (PLs), social limitations (SLs), personal relationship (PR), emotions (Em), sleep/energy (Slp/En), and severity measures (SMs). The score of each dimension ranges from 0 (lower OAB symptoms impact; better HRQoL) to 100 (higher OAB symptoms impact; worse HRQoL). Continuous normally distributed variables were reported as the mean value \ub1 standard deviation (SD). Continuous non-normally distributed variables were presented as the median values and an interquartile range (IQR). The t-test, the Mann-Whitney and Wilcoxon tests were used to compare continuous variables, as appropriate. A two-sided p < 0.05 was considered statistically significant. Results Overall, 135 patients underwent implantation of SNM during the period under review. Eighty-three out of 135 (61.5%) patients complained of OAB, and 52 (38.5%) of UR. In patients treated for OAB, we documented a statistically significant reduction in the mean number of: incontinence episodes/die, pads/die, daily micturitions, nocturnal micturitions and global micturitions (see table I). In patients treated for UR, we observed a statistically significant reduction in the mean post voiding residual volume and in the number of self catheterization (see table II). Concerning the impact of SNM on HRQOL from patients complaining of refractory OAB, only nineteen patients (17 female and 2 male), from a single centre, filled-in the KHQ pre- and/or postoperatively The median patients\u2019 age was 70 years (range 65-74) with a median follow-up of 42 months (range 17.5-48). Median and range of quality of life KHQ of general health and personal relationship pre- and post-operatively were reported in table III. Table I. SNM clinical outcomes in patients with refractory OAB Variable N Baseline FU P-value Incontinence episode/die, mean\ub1SD 48 4.1\ub12.7 1.5\ub12.1 <0.001\ub0 Pads/die, mean\ub1SD 44 3.4\ub12.4 1.3\ub11.4 <0.001\ub0 Voided volume, mean\ub1SD 45 143.6\ub169.9 206.7\ub188.5 <0.001* Daily micturition, mean\ub1SD 48 10.4\ub14.2 7.4\ub12.5 <0.001\ub0 Nightly micturition, mean\ub1SD 48 2.6\ub11.8 0.8\ub10.9 <0.001\ub0 Global micturition, mean\ub1SD 48 13.0\ub15.3 8.1\ub12.7 <0.001\ub0 *T-Test; \ub0 Wilcoxon test Table II. SNM clinical outcomes in patients with non-obstructive urinary retention Variabile N Baseline FU P-value Post void reisdual urine, mean\ub1SD 30 321.4\ub1153.5 87.2\ub196.9 <0.001\ub0 Catheterism/die, mean\ub1SD 30 3.8\ub11.4 1.3\ub11.3 <0.001\ub0 Daily micturition, mean\ub1SD 29 4.7\ub13.8 5.4\ub12.0 0.159\ub0 Nightly micturition, mean\ub1SD 29 0.7\ub11.3 0.7\ub11.1 0.886\ub0 Global micturition, ,mean\ub1SD 29 5.4\ub14.6 6.1\ub12.5 0.328\ub0 *T-Test; \ub0 Wilcoxon test Table III. Median and range of HRQoL assessed pre- and postoperatively by King\u2019s Health Questionnaire* of general health and personal relationship of patients underwent SNM for refractory OAB. Dimension pre-SNM median (rance) post-SNM median (range) p-Value Wilcoxon matched pairs test GH 50 (37.5-50) 50 (25-62.5) 1 II 100 (100-100) 100 (50-100) 0.063 RLs 83.3 (50-100) 50 (33.3-100) 0.102 PLs 83.3 (66.7-100) 33.3 (16.7-83.3) 0.026 SLs 77.8 (50-94.4) 0 (0-50) 0.017 PR 0 (0-25) 0 (0-33.3) 0.785 Em 77.8 (22.2-88.9) 33.3 (11.1-44.4) 0.14 Slp/En 50 (33.3-75) 50 (16.7-66.7) 0.109 SMs 58.3 (33.3-79.2) 66.7 (25-75) 0.671 *The score ranges from 0 (lower OAB symptoms, better HRQoL) to 100 (higher OAB symptoms, worse HRQoL). In comparison of the preoperative setting, patients after the implant showed a better scores in many KHQ dimensions. In particular for personal limitations (p=0.026), and social limitations (p=0.017). The length of follow-up did not significantly impact on HRQoL scores. Interpretation of results SNM offers objective benefits for people with refractory OAB and for those with urinary retention without structural obstruction. Concerning the PRO, because OAB symptoms in general may have a serious impact on a person\u2019s daily activities and social life, the effect of treatment on disease-specific HRQoL also reflects its efficacy. In our series we observe a significant improvement of HRQoL for the following KHQ items: personal limitations and social limitations. We observe a better, although not significant, HRQoL also for the following items: Incontinence Impact, Role Limitations, and Emotions. We did not found any correlation between the follow-up length and HRQoL. We should take great caution in interpreting these results because all the measures of the impact of SNM on the HRQOL comes from a small number of patients\u2019 perspective. Concluding message This multicenter research project confirmed the midterm safety and effectiveness of sacral neuromodulation in the treatment of refractory overactive bladder syndrome and non-obstructive urinary retention, showing high cure rates and low complication rates

    ROLE OF SYMPTOMS DURATION AS PROGNOSTICATOR FOR SACRAL NEUROMODULATION IN REFRACTORY OVERACTIVE BLADDER

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    Hypothesis / aims of study Sacral neuromodulation (SNM) offers a well-tolerated treatment option for patients with overactive bladder syndrome (OAB) refractory to conservative treatment. The advantageous effect of SNM depends on the accurate identification of suitable candidates during pre-implant percutaneous nerve evaluation. In the Literature there are conflicting data regarding the role of age, duration of complaints and neurogenic bladder dysfunction in predicting the effect of SNM, and up to-date no specific urological pre-treatment factors have been associated with response to SNM. The aim of this multicentric study was to investigate data from 103 patients with refractoy OAB who underwent SNM implant in order to evaluate the role of symptoms duration as possible pre-treatment prognosticator. Study design, materials and methods From September 2001 to November 2010 a total of 103 patients attending four different urological centres with refractory OAB underwent a temporary SNM implant. Patient data (demographics, medical history,urologic investigations, and diagnosis) were collected. Temporary implant results were evaluated from a voiding diary and patient history. More than 50% improvement of voiding parameters was considered a successful SNM and those patients were selected for implantation. We test the duration of complaints as prognosticator for predicting SNM result. We performed the Pearson correlation analysis. For comparison between groups either Student's t test or Mann-Whitney test were used, as appropriate. Results Eighty patients (77%) underwent a definitive implant. At a mean follow-up of 25.2 \uf0b1 22.9 months we observed a significant decrease (p<0.001) in the mean number of incontinence episodes/die (1.3\ub1 1.9 versus 4.6\ub12.4), number of pads/die (1.2 \ub1 1.4 versus 3.7 \ub1 2.2), daily urinary frequency (8.7 \ub1 2.8 micturitions/die versus 12.7 \ub1 4.8). Stratifying patients according to the lower urinary tract dysfunction aetiology (idiopathic, neurogenic, iatrogenic), we did not find any significant correlation between symptoms duration (neither as continuous nor categorical variables) and the improvement rates of incontinence episodes (figures 1-2), and micturition frequency (figures 3-4), although we observed better results mainly in neurogenic patients with < 4- year history of urinary symptoms (figure 5). Interpretation of results Patients with urgency and urge urinary incontinence due to neurogenic lower urinary tract dysfunction for a relatively long period of time may have a lower chance of a positive test compared with patients with neurogenic dysfunction for a relatively short period. Concluding message Duration of complaints was not found to be significant predictive factor for the success of SNM. Disclosure

    The hArtes Tool Chain

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    This chapter describes the different design steps needed to go from legacy code to a transformed application that can be efficiently mapped on the hArtes platform
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