Extracorporeal shock wave lithotripsy: retrospective study on possible predictors of treatment success and revisiting the role of non-contrast-enhanced computer tomography in kidney and ureteral stone disease.

Extracorporeal shock wave lithotripsy (ESWL) is a safe and efficient treatment option for urinary stone disease. The overall stone-free rate (SFR) varies significantly. This study aimed to assess the influence of stone size, location, stone density, and skin-to-stone distance (SSD), on the outcome of ESWL. We assessed whether pre-treatment non-contrast-enhanced CT scan (NCCT) confers significant advantages compared to kidney-ureter-bladder film (KUB) only. We reviewed the medical records of 307 cases (165 men, 142 women) with renal and ureteral stones treated consecutively at our institution with ESWL between 2020 and 2023. 44 of these underwent a NCCT. The outcome of ESWL was defined in two ways: visible stone fragmentation on KUB, and the need for further treatment. Overall success of fragmentation was 85% (261 patients). 61% of patients (n = 184) didn't need any further treatment. Stone size and location correlated significantly with treatment outcomes regarding the need for further treatment (p = 0.004) and stone fragmentation (p = 0.016), respectively. Unlike mean SSD (p = 0.462), the mean attenuation value (MAV) significantly correlated with the need for retreatment (p = 0.016). MAV seems to be a better predictor of treatment success (AUC of the ROC curve: 0.729), compared to stone size (AUC: 0.613). The difference between groups (with and without NCCT) in both treatment outcomes did not reach statistical significance. During decision-making, information regarding SSD and MAV can be useful in more dubious scenarios. However, it appears that their inclusion doesn't provide substantial advantages when compared to relying solely on KUB.

Nephrectomy with Autotransplantation-A Key Treasure.

Background: Nephrectomy with autotransplantation (NAT) has been performed as an alternative treatment for complex renovascular lesions, intricate ureteral strictures and nephron-sparing surgery in complex renal tumors. Methods: A retrospective observational study was conducted including patients who underwent a NAT from January 2010 to September 2023. Data collected included surgery indications, surgical technique, complications according to Clavien-Dindo classification and mean hospital stay. Descriptive and inferential statistical analysis was performed using IBM® SPSS® Statistics version 28.0.1.0. Results: A total of 34 consecutive patients underwent 38 NATs at our institution. Surgery indications were complex renovascular conditions in 35 cases (92.1%), of which 24 had renal artery aneurysms, and ureteral injuries in 3 cases (7.9%). Thirty-four kidneys (89.5%) were retrieved through a laparoscopic approach. No significant difference was observed between post- and pre-operative creatinine levels (0.81 vs. 0.72, p = 0.303). Early high-grade complications developed in 12 procedures (31.6%). Median cold ischemia time was significantly longer in patients who developed complications (163.0 vs. 115.0, p = 0.010). The median hospital stay was 10 days (8-13). The median follow-up was 51.5 months. Conclusions: NAT emerges as a successful therapeutic strategy for a highly select group of patients dealing with intricate ureteral lesions and kidney vascular abnormalities, demonstrating positive outcomes that endure in the long term.

Prediction models of low-power holmium laser effectiveness in renal stone lithotripsy during retrograde intrarenal surgery.

The objectives of this study are to develop prediction models for total laser energy (TLE) in order to infer surgical time and assist operative planning of intrarenal low-power Ho:YAG laser lithotripsy, and to predict the fragmented volume as well as the stone-free status (SFS). A retrospective review was performed, comprising all single surgeon standardized retrograde intrarenal surgery and low-power Ho:YAG laser lithotripsy at a tertiary care centre between October 2014 and September 2019. Automated measurement of stone volume and stone density (MSD), measured in Hounsfield units (HU), was employed in both pre- and post-operative non-contrast-enhanced computed tomography (NCCT), using a standardized technique on Osirix Lite® software. SFS was defined as complete absence of stone fragments, or fragments < 0.1 cm on meticulous inspection at the end of the procedure, and residual stone burden < 0.0005 cm3 on postoperative NCCT at 3 months. Statistical analysis was performed using the STATA® version 13.1 software for regression models. A p value < .05 was considered statistically significant. A total of 100 patients met the inclusion criteria, requiring a median of 22.3 kJ/cm3 (13.4-36.0) and resulting in a SFS of 41% at 3 months. In a multivariate analysis, according to stone composition, predicted TLE is equal: for uric acid (UA), 11.17 × volume(cm3) + 0.17 × MSD(HU) + 7.48 kJ; for mixed stones, 11.17 × volume(cm3) + 0.17 × MSD(HU) + 6.26 kJ; for calcium oxalate monohydrate (CaOM) stones, 11.17 × volume(cm3) + 0.17 × MSD(HU) + 1.14 kJ; and for calcium phosphate (CaPh) stones 11.17 × volume(cm3) + 0.17 × MSD(HU) - 1.94 kJ. Predicted fragmented volume is equal to 0.93 × volume(cm3) cm3. The significant predictors for SFS were UA stones, the presence of multiple stones, and lower TLE. In clinical practice, our models for intrarenal low-power Ho:YAG laser lithotripsy indicate that larger, denser, and UA stones are associated to higher TLE, and that single and UA stones are more commonly associated to SFS. Since higher TLE means longer operative time, when adjusting for laser parameters, our prediction models may help urologists plan surgeries more precisely based on stone characteristics, ultimately optimizing patients' treatment.

Contemporary patterns of presentation, diagnostics and management of upper tract urothelial cancer in 101 centres: the Clinical Research Office of the Endourological Society Global upper tract urothelial carcinoma registry.

PURPOSE OF REVIEW: To assess patterns of presentation, diagnostics and treatment in patients with upper tract urothelial carcinoma (UTUC), a multicentre registry was launched. Clinical data of UTUC patients were prospectively collected over a 5-year period. RECENT FINDINGS: Data from 2380 patients were included from 2014 to 2019 (101 centres in 29 countries). Patients were predominantly male (70.5%) and 53.3% were past or present smokers. The majority of patients (58.1%) were evaluated because of symptoms, mainly macroscopic hematuria. Computed tomography (CT) was the most common performed imaging modality (90.5%). A ureteroscopy (URS) was part of the diagnostic process in 1184 (49.7%) patients and 488 (20.5%) patients were treated endoscopically. In total, 1430 patients (60.1%) were treated by a radical nephroureterectomy, 59% without a prior diagnostic URS. Eighty-two patients (3.4%) underwent a segmental resection, 19 patients (0.8%) were treated by a percutaneous tumour resection. SUMMARY: Our data is in line with the known epidemiologic characteristics of UTUC. CT imaging is the preferred imaging modality as also recommended by guidelines. Diagnostic URS gained a stronger position, however, in almost half of patients a definitive treatment decision was made without complete endoscopic information. Only one-third of patients with UTUC are currently treated with kidney sparing surgery.

Remaining kidney volume indexed to weight as a strong predictor of estimated glomerular filtration rate at 1 year and mid-term renal function after living-donor nephrectomy - a retrospective observational study.

The donors' estimated glomerular filtration rate (eGFR) after living nephrectomy has been a concern, particularly in donors with smaller kindeys. Therefore, we developed this retrospective observational study in 195 donors to determine the ability remaining kidney volume indexed to weight (RKV/W) to predict eGFR at 1 year through multivariate linear regression and to explore this relationship between annual eGFR change from 1 to 4 years postdonation evaluated by a linear mixed model. Comparing RKV/W tertiles (T1, T2, T3), RKV/W was a good predictor of 1-year eGFR which was significantly better in T3 donors. Gender, predonation eGFR, and RKV/W were independent predictors of eGFR at 1-year. In a subgroup with predonation eGFR < 90mL/min/1.73 m2 , a significant prediction of eGFR < 60mL/min/1.73 m2 was detected in males with RKV/W ≤ 2.51cm3 /kg. Annual eGFR (ml/min/year) change from 1 to 4 years was + 0.77. RKV/W divided by tertiles (T1-T3) was the only significant predictor: T2 and T3 donors had an annual eGFR improvement opposing to T1. RKV/W was a good predictor of eGFR at 1 year, independently from predonation eGFR. A higher RKV/W was associated with improved eGFR at 1 year. A decline in eGFR on the four years after surgery was only noticeable in donors with RKV/W ≤ 2.13cm3 /kg.

Evaluation of Patterns of Presentation, Practice, and Outcomes of Upper Tract Urothelial Cancer: Protocol for an Observational, International, Multicenter, Cohort Study by the Clinical Research Office of the Endourology Society.

BACKGROUND: Available guidelines on the management of upper tract urothelial carcinoma (UTUC) are restricted due to the lack of strong evidence-based recommendations. Adequate, well-powered randomized trials are missing due to the rarity of the disease. To overcome this problem, we need alternative study designs to provide generalizable data. OBJECTIVE: The primary aim of this registry is to provide a real-world overview on patterns of presentation and management of UTUC. Secondary objectives include comparison of outcomes of different treatments and tumor stages and evaluation of compliance with the current European Association of Urology recommendations for UTUC. METHODS: For this observational, international, multicenter, cohort study, clinical data of consecutive patients suspected of having UTUC, irrespective of type of management, will be prospectively collected up to 5 years after inclusion. Data on the patterns of presentation, diagnostics, and treatment as well as short-, mid-, and long-term oncological and functional outcomes will be analyzed. Possible associations between variables, basal characteristics, and outcomes will be tested by multivariable analyses. The methodology will address potential sources of bias and confounders. RESULTS: The registry was initiated in November 2014 after obtaining institutional review board approval. Data collection started in December 2014. At the time of submission of this manuscript, 2451 patients from 125 centers from 37 countries were included. Inclusion of patients will be closed 5 years after initiation of the registry. Quality checks will be performed centrally with continuous communication and feedback with the centers to ensure accuracy. The first results are expected in the first trimester of 2020. CONCLUSIONS: This large observational prospective cohort will generate landmark "real-world" data and hypotheses for further studies. We expect these data to optimize the management of UTUC, provide insights on harms and benefits of treatment, and serve as quality control. TRIAL REGISTRATION: ClinicalTrials.gov NCT02281188; https://clinicaltrials.gov/ct2/show/NCT02281188. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/15363.

Mini-incision Living Donor Nephrectomy and Trans-peritoneal Laparoscopic Nephrectomy: Will There Be a Place for New Evidence?

OBJECTIVES: To compare mini-incision donor nephrectomy (MDN) with laparoscopic donor nephrectomy (LDN) performed by the same surgical team, regarding short- and long-term outcomes. METHODS: Three hundred and five patients, who underwent donor nephrectomy in our institution, through an MDN (n = 141) between January 1998-November 2011 and LDN (n = 164) since June 2010-December 2017, were compared. RESULTS: The mean operative time for MDN (120 ± 29 minutes) was not significantly different when compared to LDN (113 ± 34 minutes), but when comparing the first 50 LDN and the 50 most recent, we found a reduction in the duration of the procedure. Laparoscopic donors had a shorter warm ischemia time (229 seconds vs 310 seconds, P = .01), particularly the 50 most recent, hospital stay (4.3 days vs 5.9 days, P < .001), and postoperative complications (P = .03). The incidence of graft acute tubular necrosis (ATN) was superior in the MDN (89% vs 25%, P < .001), although there was no significant difference regarding first-year serum creatinine (SCr) and glomerular filtration rate (GFR) (SCr 1.38 mg/dL vs SCr 1.33 mg/dL and GFR 63.7 mL/min vs 63.1 mL/min) comparing the 2 groups. Long-term graft survival did not significantly differ between groups. There was also no relationship between postoperative ATN events and long-term graft function. CONCLUSIONS: With the growing experience of the high-volume centers and with specialized teams, LDN could be considered the most suitable technique for living donor nephrectomy with better results in short-term results (warm ischemia time, hospital stay, and postoperative complications), without difference in long-term outcomes.

Micro-ureteroscopy for treatment of pelvic ureteral stone in pediatric patient.

INTRODUCTION: During the last years there has been an effort in miniaturizing the endoscopic devices. The video presents an alternative for the management of distal ureteral stone, using a ureteral access of 4.85 Fr and 27 cm of length, previously described as micro-ureteroscopy. MATERIAL AND METHODS: This procedure was performed through a 3-part all-seeing needle, consisting of micro-optics 0.9 mm in diameter with a 120-degree angle of view, an irrigation channel and an integrated light. CLINICAL CASE: Seven year-old boy, with history of preterm birth (29 weeks) was referred to our consultation complaining of left back pain and an elevation of serum creatinine. The renal ultrasound revealed a left ureterohydronephrosis, caused by a 10 mm stone located 13 mm from the ureterovesical junction. The patient underwent a micro-ureteroscopy with laser lithotripsy. The stone was fragmented with an average energy of 0.5 J with 12 Hz of frequency. The total energy spent was 12514 J. At the end of the procedure, a double J stent was placed. The procedure lasted 45 minutes and was uneventful. The patient was discharged 24h after the procedure without complaints and remained stone free. CONCLUSION: Micro-ureteroscopy is a safe and effective technique in distal ureteral lithiasis treatment in children. The small dimensions of the equipment increase the safety of the procedure making this a good option for the treatment of ureteral stones in children.

Adult testicular granulosa cell tumour: an extremely rare entity.

Adult granulosa cell tumours are extremely rare and usually benign but sometimes can assume an aggressive behaviour. A 31-year-old man presented with a 45 mm testicular mass. Radical orchiectomy was performed. Histological examination showed elongated cells, with hyperchromatic nuclei and Call-Exner bodies. Immunohistochemical analysis revealed positivity to vimentin, inhibin and negative PLAP and AE1/AE3 staining. The patient did not receive any adjuvant therapy and remained asymptomatic during 10 years. There are few cases of adult granulosa cell tumours and there is no consensus regarding malignancy criteria, treatment and follow-up. The description of these entities is crucial to allow a better management of these patients.

Is the menstrual cup harmless? A case report of an unusual cause of renal colic.

INTRODUCTION: Menstrual cup is increasingly gaining acceptance among women to control the menstrual period. The majority of brands advocate that these devices are 100% safe to the users, notwithstanding there are some reports of rare complications associated with these devices. PRESENTATION OF CASE: In this case we present a woman who developed a right renal colic using a menstrual cup. The pain was difficult to manage with conventional analgesics. The plain abdominal X-ray revealed the device in the pelvis occupying more than one third of the pelvis minor diameter and oriented to the right side. The ultrasound revealed right ureterohydronephrosis with no identifiable obstructive cause. The symptoms and the ureterohydronephrosis relieved completely after the removal of the device. DISCUSSION: Despite of being a safe device, problems with the menstrual cup could occur and we believe that the mechanism behind this clinical picture was the extrinsic compression of the right ureter by the cup. The control of the pain in this patient was challenging and we managed the problem with the device removal. CONCLUSION: The menstrual cup is gaining acceptance among women and it is important for clinicians to be aware of this device and possible complications associated with its use.

Prospective evaluation on the effect of interobserver variability of digital rectal examination on the performance of the Rotterdam Prostate Cancer Risk Calculator.

OBJECTIVES: To assess the level of agreement between digital rectal examination findings of two urologists and its effect on risk prediction using the digital rectal examination-based Rotterdam Prostate Cancer Risk Calculator. METHODS: The study sample consisted of a prospective cohort of asymptomatic unscreened men with prostate-specific antigen ≤50.0 ng/mL and transrectal ultrasound volume ≤110 mL who underwent transrectal ultrasound-guided prostate biopsy. Both urologists' digital rectal examination findings were graded normal or abnormal (nodularity and/or induration), and volume classified as 25, 40 or 60 mL, according to the risk calculator algorithm. Interrater agreement analysis using Cohen's kappa (κ) statistic was carried out to determine consistency of digital rectal examination outcome and volume assessment. Receiver operating characteristic curve analysis and calibration plots were constructed to determine the effect of interrater differences. Decision curve analysis was applied to evaluate the clinical usefulness of the model. RESULTS: Of the 241 men included in the study, 41% (n = 98) had prostate cancer (81 were clinically significant, i.e. Gleason ≥3 + 4). There was substantial agreement in the digital rectal examination (abnormal/normal; κ = 0.78; P < 0.001) and volume estimation (κ = 0.79; P < 0.001). Receiver operating characteristic analyses showed good discrimination (0.75-0.78) and were comparable for both urologists. In the high-risk cohort, at a probability threshold of 25%, the risk calculator reduced the prostate biopsy rate by 9%, without missing cancers. CONCLUSIONS: Slight differences in digital rectal examination findings seem to have very limited impact on the performance of the Rotterdam Prostate Cancer Risk Calculator. Therefore, this can be considered a useful prostate biopsy outcome prediction tool.

Expert Involvement Predicts mHealth App Downloads: Multivariate Regression Analysis of Urology Apps.

BACKGROUND: Urological mobile medical (mHealth) apps are gaining popularity with both clinicians and patients. mHealth is a rapidly evolving and heterogeneous field, with some urology apps being downloaded over 10,000 times and others not at all. The factors that contribute to medical app downloads have yet to be identified, including the hypothetical influence of expert involvement in app development. OBJECTIVE: The objective of our study was to identify predictors of the number of urology app downloads. METHODS: We reviewed urology apps available in the Google Play Store and collected publicly available data. Multivariate ordinal logistic regression evaluated the effect of publicly available app variables on the number of apps being downloaded. RESULTS: Of 129 urology apps eligible for study, only 2 (1.6%) had >10,000 downloads, with half having ≤100 downloads and 4 (3.1%) having none at all. Apps developed with expert urologist involvement (P=.003), optional in-app purchases (P=.01), higher user rating (P<.001), and more user reviews (P<.001) were more likely to be installed. App cost was inversely related to the number of downloads (P<.001). Only data from the Google Play Store and the developers' websites, but not other platforms, were publicly available for analysis, and the level and nature of expert involvement was not documented. CONCLUSIONS: The explicit participation of urologists in app development is likely to enhance its chances to have a higher number of downloads. This finding should help in the design of better apps and further promote urologist involvement in mHealth. Official certification processes are required to ensure app quality and user safety.

What about vaginal extraction of the kidney? results of an online survey.

PURPOSE: We aimed to characterize surgeons opinion about the vaginal extraction of the kidney after transperitoneal laparoscopic nephrectomy. Matherial and Methods: A 9-item questionnaire was published online (Survey Monkey TM) and publicized via email to a multidisciplinary pool of surgeons in Portugal. Data was collected and statistical analysis was performed using IBM SPSS Statistics, Version 21.0. RESULTS: Three hundred and fifty nine inquiries were sent, 154 surgeons completed the questionnaires (response rate of 43.0%). Fifty five point eight percent of the participants would choose the transvaginal approach for themselves or for a close relative. The most stated arguments were a better cosmesis (29.0%) expectancy of lower post operative pain (26.0%) and lower rate of incisional hernias (23.0%). Defenders of the transabdominal procedure justified with an expectancy of lower complication rate (39%), namely impairment of sexual function and fertility (22%). The female gender and the familiarity with transvaginal surgery were the stronger predictors of the option for this approach (70.6% vs 48.5%; p=0,016 and 85.3% vs 46.6%; p <0.001 respectively). CONCLUSIONS: Contrasting with similar surveys published on transvaginal NOTES, the vaginal specimen extraction after conventional laparoscopic nephrectomy was fairly accepted by the inquired surgeons.

What about vaginal extraction of the kidney? results of an online survey

ABSTRACT Purpose We aimed to characterize surgeons opinion about the vaginal extraction of the kidney after transperitoneal laparoscopic nephrectomy. Matherial and Methods A 9-item questionnaire was published online (Survey Monkey TM) and publicized via email to a multidisciplinary pool of surgeons in Portugal. Data was collected and statistical analysis was performed using IBM SPSS Statistics, Version 21.0. Results Three hundred and fifty nine inquiries were sent, 154 surgeons completed the questionnaires (response rate of 43.0%). Fifty five point eight percent of the participants would choose the transvaginal approach for themselves or for a close relative. The most stated arguments were a better cosmesis (29.0%) expectancy of lower post operative pain (26.0%) and lower rate of incisional hernias (23.0%). Defenders of the transabdominal procedure justified with an expectancy of lower complication rate (39%), namely impairment of sexual function and fertility (22%). The female gender and the familiarity with transvaginal surgery were the stronger predictors of the option for this approach (70.6% vs 48.5%; p=0,016 and 85.3% vs 46.6%; p <0.001 respectively). Conclusions Contrasting with similar surveys published on transvaginal NOTES, the vaginal specimen extraction after conventional laparoscopic nephrectomy was fairly accepted by the inquired surgeons.

mHealth in Urology: A Review of Experts' Involvement in App Development.

INTRODUCTION: Smartphones are increasingly playing a role in healthcare and previous studies assessing medical applications (apps) have raised concerns about lack of expert involvement and low content accuracy. However, there are no such studies in Urology. We reviewed Urology apps with the aim of assessing the level of participation of healthcare professionals (HCP) and scientific Urology associations in their development. MATERIAL AND METHODS: A systematic search was performed on PubMed, Apple's App Store and Google's Play Store, for Urology apps, available in English. Apps were reviewed by three graders to determine the app's platform, target customer, developer, app type, app category, price and the participation of a HCP or a scientific Urology association in the development. RESULTS: The search yielded 372 apps, of which 150 were specific for Urology. A fifth of all apps had no HCP involvement (20.7%) and only a third had been developed with a scientific Urology association (34.7%). The lowest percentage of HCP (13.4%) and urological association (1.9%) involvement was in apps designed for the general population. Furthermore, there was no contribution from an Urology society in "Electronic Medical Record" nor in "Patient Information" apps. A limitation of the study is that only Android and iOS apps were reviewed. CONCLUSIONS: Despite the increasing Mobile Health (mHealth) market, this is the first study that demonstrates the lack of expert participation in the design of Urology apps, particularly in apps designed for the general public. Until clear regulation is enforced, the urological community should help regulate app development. Maintaining a register of certified apps or issuing an official scientific seal of approval could improve overall app quality. We propose that urologists become stakeholders in mHealth, shaping future app design and promoting peer-review app validation.

Endoscopic Treatment of Studer's Orthotopic Neobladder Lithiasis.

Studer's neobladder lithiasis is a rare but important long term complication of this orthotopic bladder substitute technique. We report a case of a 45 year-old male patient, submitted to a radical cystoprostatectomy with a Studer's orthotopic neobladder 4 years before, presenting bad compliance to recommended urinary habits, increased production of mucus and high post voiding residue. CT scan and urethrocystography showed a distended pouch with 2 major sacculations with narrow communication and a stone in each sacculation. A minimally invasive endoscopic technique was successfully used in the treatment of the 2 small calculus.

Female sexual and pelvic floor muscles dysfunctions in familial amyloidotic polyneuropathy (FAP-Portuguese type).

OBJECTIVES: The aim of this study was to investigate the prevalence of Sexual and Pelvic Floor Dysfunctions associated with familial type 1 Portuguese amyloid polyneuropathy (FAP). We studied women with FAP in three stages of the disease: asymptomatic women (n=12), women in the early stage of the disease (n=8) and 3 women in the most progressive stage of the disease. We hypothesize that women with FAP suffer from pelvic floor hypotonicity, which may hinder orgasmic function and as such, lead to deteriorated sexual function. METHODS: Twenty-three women with FAP were studied. Clinical examinations were performed using the following scales: Clinical Evaluation Scale (CES), Visual Analog Scale of Quality of Life (VAS), Female Sexual Function Index (FSFI) and Pelvic Floor Manometry (PFM). RESULTS: Of the women, 5 (21.7%) had a score of < 26 on the FSFI, suggesting sexual dysfunction, 3 of which had FAP at the most progressive stage. None of the asymptomatic women had low FSFI scores. The manometrical rates (PFM) of tonus and strength of the pelvic floor showed significant differences between groups. CONCLUSION: Female sexual dysfunction (FSD) may occur in the initial stages of the disease but is more prevalent in women in the advanced stages of the disease. There is an increasing incidence of FSD as FAP disease progresses, namely in terms of HSDD and orgasmic sensation. In the asymptomatic group, the females revealed PFM alterations without stress urinary incontinence, which is regarded to be a discrete deterioration of pelvic floor muscle function.

Disfunción de la musculatura del suelo pélvico y la función sexual en mujeres con polineuropatía familiar amiloidótica (FAP- Tipo Portugés) / Female sexual and pelvic floor muscles dysfunctions in familial amyloidotic polyneuropathy (FAP -Portuguese Type)

OBJETIVO: El objetivo de este estudio fue investigar la prevalencia de disfunción sexual y del suelo pélvico asociada con polineuropatía amiloidótica familiar (FAP). Estudiamos mujeres con FAP en tres estadios de la enfermedad: mujeres asintomáticas (n=12), mujeres en la fase temprana de la enfermedad (n=8) y 3 mujeres en el estadio más progresivo. Tenemos la hipótesis de que las mujeres con FAP sufren de hipotonía del suelo pélvico, lo cual puede impedir la función orgásmica y por lo tanto llevar a un deterioro de la función sexual. MÉTODOS: Estudiamos veintitrés mujeres con FAP. Las evaluaciones clínicas se realizaron utilizando las siguientes escalas: escala de evaluación clínica (EEC), escala visual analógica de calidad de vida (EVA), Índice de función sexual femenina (FSFI) y manometría del suelo pélvico (MSP). RESULTADOS: Cinco mujeres (21,7%) tenían una puntuación <26 en el FSFI, lo que sugiere disfunción sexual, 3 de ellas presentaban FAP en su estadio más progresivo. Ninguna de las mujeres asintomáticas tenía una puntuación baja en el FSFI. Los resultados de tono y fuerza del suelo pélvico en la manometría (MSP) mostraron diferencias significativas entre los grupos. CONCLUSIÓN: La disfunción sexual femenina (DSF) puede ocurrir en las primeras fases de la enfermedad pero es más prevalente en mujeres en estadios avanzados. Hay una incidencia en aumento de la DSF a medida que la enfermedad FAP progresa, concretamente en términos de DDSH (desorden d deseo sexual hipoactivo) y sensación orgásmica. En el grupo asintomático, las mujeres revelaban alteraciones de la PFM sin incontinencia urinaria de esfuerzo, la cual se considera como un deterioro discreto de la función de la musculatura pélvica(AU)

OBJECTIVES: The aim of this study was to investigate the prevalence of Sexual and Pelvic Floor Dysfunctions associated with familial type 1 Portuguese amyloid polyneuropathy (FAP). We studied women with FAP in three stages of the disease: asymptomatic women (n=12, women in the early stage of the disease (n=8) and 3 women in the most progressive stage of the disease. We hypothesize that women with FAP suffer from pelvic floor hypotonicity, which may hinder orgasmic function and as such, lead to deteriorated sexual function. METHODS: Twenty-three women with FAP were studied. Clinical examinations were performed using the following scales: Clinical Evaluation Scale (CES), Visual Analog Scale of Quality of Life (VAS), Female Sexual Function Index (FSFI) and Pelvic Floor Manometry (PFM). RESULTS: Of the women, 5 (21.7%) had a score of < 26 on the FSFI, suggesting sexual dysfunction, 3 of which had FAP at the most progressive stage. None of the asymptomatic women had low FSFI scores. The manometrical rates (PFM) of tonus and strength of the pelvic floor showed significant differences between groups. CONCLUSION: Female sexual dysfunction (FSD) may occur in the initial stages of the disease but is more prevalent in women in the advanced stages of the disease. There is an increasing incidence of FSD as FAP disease progresses, namely in terms of HSDD and orgasmic sensation. In the asymptomatic group, the females revealed PFM alterations without stress urinary incontinence, which is regarded to be a discrete deterioration of pelvic floor muscle function(AU)