Is hypnotic assessment relevant to neurology?

Studies conducted in healthy subjects have clearly shown that different hypnotic susceptibility, which is measured by scales, is associated with different functional equivalence between imagery and perception/action (FE), cortical excitability, and information processing. Of note, physiological differences among individuals with high (highs), medium (mediums), and low hypnotizability scores (lows) have been observed in the ordinary state of consciousness, thus independently from the induction of the hypnotic state, and in the absence of specific suggestions. The potential role of hypnotic assessment and its relevance to neurological diseases have not been fully explored. While current knowledge and therapies allow a better survival rate, there is a constant need to optimize rehabilitation treatments and quality of life. The aim of this paper is to provide an overview of hypnotizability-related features and, specifically, to discuss the hypothesis that the stronger FE, the different mode of information processing, and the greater proneness to control pain and the activity of the immune system observed in individuals with medium-to-high hypnotizability scores have potential applications to neurology. Current evidence of the outcome of treatments based on hypnotic induction and suggestions administration is not consistent, mainly owing to the small sample size in clinical trials and inadequate control groups. We propose that hypnotic assessment may be feasible in clinical routine and give additional cues into the treatment and rehabilitation of neurological diseases.

Post-traumatic entrapment of the median nerve in the ulno-humeral joint: Diagnosis, treatment and literature review.

BACKGROUND: The incidence of median nerve injuries in pediatric elbow dislocations is approximately 3% and avulsion of the open medial epicondylar epiphysis in the pediatric population is one predisposing factor that may explain this age predilection. These lesions can be difficult to diagnose in the acute phase because symptoms tend to be mild or delayed, consequently their management can be challenging and functional outcome poorer. METHODS: We present the case of an unrecognized median nerve entrapment in a 16-year-old boy with posterior dislocation of the elbow and a medial epicondyle fracture, treated initially with close reduction and open stabilization with a cannulated screw. Assessment is supported by a review of similar reported cases available in literature. RESULTS: We discuss the diagnostic approach and the surgical options that can be used for this type of injury. CONCLUSIONS: High clinical suspicion of entrapment is imperative in presence of signs of damage to the median nerve in the pediatric patient immediately after the reduction of an elbow dislocation. If diagnosis of entrapment is made the therapeutic choice between neurolysis and nerve graft depends on the lesion severity. In the presence of a Fourrier's type 4 lesion, neurolysis should be avoided, while nerve resection and grafting are recommended.

Osteoid Osteoma of the Atlas in a Boy: Clinical and Imaging Features-A Case Report and Review of the Literature.

Osteoid osteoma is a benign osteoblastic tumor, quite uncommon in the spine. We report a case of an osteoid osteoma involving the atlas in a 6-year-old boy, who presented with suboccipital pain and torticollis. Initial radiological findings were ambiguous as magnetic resonance imaging showed mainly edema of upper cervical soft tissues. The subsequent computed tomography depicted a lesion of left lamina of C1. As conservative treatment failed, the lesion was surgically resected and the patient became pain free. To our knowledge, this is the first case of osteoid osteoma involving the atlas associated with abnormal soft tissue reaction reported in literature.

Liver steatosis is highly prevalent and is associated with metabolic risk factors and liver fibrosis in adult patients with type 1 Gaucher disease.

BACKGROUND AND AIMS: Gaucher disease (GD) is associated with peculiar metabolic abnormalities (ie hypermetabolic state, peripheral insulin resistance, dyslipidaemia), partially reverted by enzyme replacement therapy (ERT) at the expense of weight gain. Such metabolic alterations together with an unhealthy lifestyle acquired by an ageing GD population may favour the development of liver steatosis. We aimed at evaluating the prevalence of significant liver steatosis and at identifying the factors associated with liver steatosis in a cohort of patients with type 1 GD. METHODS: Twenty adult type 1 GD patients from an Italian academic referral centre were prospectively submitted to vibration-controlled transient elastography (Fibroscan®) with controlled attenuation parameter (CAP); significant steatosis was defined as CAP values ≥250 dB/min. RESULTS: Median CAP values were 234 [165-358] dB/min and 8 patients (40%) had significant steatosis. Significant steatosis was associated with indices of adiposity (weight, BMI and waist circumference), high blood pressure, insulin resistance and metabolic syndrome. GD-related variables and dose and duration of ERT were not associated with significant steatosis. In the subgroup of 16 patients on stable ERT for at least 24 months, CAP resulted significantly and positively associated with liver stiffness (rho 0.559, P = .024). CONCLUSIONS: Significant steatosis is highly prevalent in adult type 1 GD patients and is strongly associated with a worse metabolic profile, featuring metabolic dysfunction-associated fatty liver disease (MAFLD). MAFLD may determine liver fibrosis progression in GD patients on stable ERT and may be a risk factor for long-term liver-related complications.

Love in the Time of COVID-19: Sexual Function and Quality of Life Analysis During the Social Distancing Measures in a Group of Italian Reproductive-Age Women.

BACKGROUND: The beginning of 2020 was characterized by the COVID-19 pandemic. The world governments have adopted restrictive measures to reduce the spread of infection. These measures could affect the sexual function and quality of life of women living with their partner. AIM: The aim is to assess the impact of the social distancing measures caused by the COVID-19 pandemic on sexual function and quality of life of noninfected reproductive-age women, living with their sexual partner. METHODS: Observational analysis on sexually active women, living with their partner, and without COVID-19 infection was performed. The population previously answered FSFI, FSDS, and SF-36 questionnaires. 4 weeks after the introduction of the restrictive measures, these women were invited to complete the same questionnaires by e-mail for an evaluation during the COVID-19 outbreak. MAIN OUTCOME MEASURES: The primary endpoint was the assessment of the women's sex function change during the social restriction period, by analyzing the FSFI and FSDS questionnaires. The secondary endpoint was the evaluation of the impact on the quality of life calculated by the SF-36 questionnaire. RESULTS: 89 patients were considered. The median age was 39 (28-50) years. Mean sexual intercourses/month decreased from 6.3 ± 1.9 to 2.3 ± 1.8, mean difference: -3.9 ± 1.2. FSFI decreased significantly (29.2 ± 4.2 vs 19.2 ± 3.3, mean difference: -9.7 ± 2.6) and FSDS increased significantly (9.3 ± 5.5 vs 20.1 ± 5.2, mean difference: 10.8 ± 3.4). The SF-36 showed a significant change from 82.2 ± 10.2 to 64.2 ± 11.8 4 weeks after the introduction of the restrictive measures; mean difference: -17.8 ± 6.7. The univariable analysis identified working outside the home, university educational level, and parity ≥1 as predictive factors of lower FSFI. In multivariable analysis, working outside the home and combination of working outside the home + university educational level + parity ≥1 were the independent factors of a lower FSFI. CLINICAL IMPLICATION: The negative impact of the COVID-19 epidemic period on sexual function and quality of life in women shows how acute stress might affect the psychological state. Thus, psychological or sexual support could be useful. STRENGTHS AND LIMITATIONS: To our knowledge, this study is the first that analyzes the change in sexual activity in women during the COVID-19 outbreak period. The limitations were the low number of the analyzed participants, psychological tests were not included, and no data were collected on masturbation, self-heroism, solitary, and nonpenetrative sex. CONCLUSION: The COVID-19 epidemic and the restrictive social distancing measures have negatively influenced the sexual function and quality of life in not-infected reproductive-age women who live with their sexual partners. Schiavi MC, Spina V, Zullo MA, et al. Love in the Time of COVID-19: Sexual Function and Quality of Life Analysis During the Social Distancing Measures in a Group of Italian Reproductive-Age Women. J Sex Med 2020;17:1407-1413.

Position paper on magnetic resonance imaging protocols in the musculoskeletal system (excluding the spine) by the Italian College of Musculoskeletal Radiology.

Magnetic resonance imaging (MRI) is a pivotal radiological examination in clinical practice, being widely applied for musculoskeletal examinations. In this setting, strict adherence to standardized protocol is crucial to increase diagnostic performance and minimize variability among different diagnostic centres and readers. The aim of this paper is to provide standardized technical recommendations for musculoskeletal MRI scans proposed by the Italian College of Musculoskeletal Radiology. These recommendations are designed to give a uniform application of MRI protocols over the national territory, to increase reproducibility and improve diagnostic performance.

Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease.

BACKGROUND & AIMS: Long-term liver-related complications of Gaucher disease (GD) include cirrhosis, portal hypertension and hepatocellular carcinoma. Although liver fibrosis is the main determinant of adverse liver-related clinical outcomes, it has rarely been evaluated in previously published cohorts of GD patients. We aimed at: assessing the prevalence of significant liver fibrosis in a cohort of patients with type 1 GD; identifying its predictors among GD-related variables, enzyme replacement therapy (ERT) and metabolic features. METHODS: 37 adult type 1 GD patients from two Italian academic referral centers were prospectively submitted to vibration controlled transient elastography (Fibroscan®); significant fibrosis was defined as liver stiffness ≥7 kPa. RESULTS: Median liver stiffness was 4.6 [3-15.1] kPa and 7 patients (19%) had significant fibrosis. Significant fibrosis was associated with splenectomy (p = .046) and with scores (DS3: p = .002; SSI: p = .026) and biomarkers (ACE: p = .016; HDL cholesterol: p = .004) of GD severity. Length of ERT was significantly lower in GD patients with significant fibrosis. In the subgroup of 29 patients who were on stable ERT for at least 24 months, further to splenectomy, GD severity and non-N370S GBA1 genotypes, also diastolic blood pressure, BMI and the number of metabolic syndrome (MetS) components emerged as factors significantly associated with significant fibrosis. CONCLUSIONS: Significant fibrosis is present in a remarkable proportion of adult type 1 GD patients. Splenectomy, GD severity and GBA1 genotypes are major GD-related predictors of liver fibrosis. Length of ERT is inversely correlated with liver disease in GD patients, suggesting a beneficial effect of ERT on liver fibrosis. However, GD patients on stable ERT should be monitored for metabolic complications, since MetS features may enhance liver disease progression despite optimal GD control.

To evaluate the feasibility of magnetic resonance imaging in predicting unusual site ectopic pregnancy: a retrospective cohort study.

OBJECTIVE: To evaluate the accuracy of pelvic MRI in the diagnosis of unusual ectopic pregnancy (EP), when ultrasound (US) examination is inconclusive. METHODS: We retrospectively reviewed the medical records of 150 patients with suspected EP. Clinical, US and MRI features of 15 unusual EPs were analysed. Two radiologists independently reviewed each case resolving by consensus any diagnostic discrepancy. Interobserver agreement was assessed using the Cohen κ test. RESULTS: MRI displayed a gestational sac-like structure surrounded by a thick wall in all cases. The thick wall displayed hyperintensity in 41 %, isointensity in 35 % and hypointensity in 24 % of cases on T1-weighted images. Diffusion- and fat saturation T1-weighted images were the most accurate sequences, as they enabled identification of 15/15 and 14/15 patients, respectively. Although US was false negative in detecting cervical and uterine infiltration underlying the caesarean scar, MRI was able to identify the invasion. Interobserver agreement was very good for all sequences (κ=0.892-1.0). CONCLUSIONS: MRI plays an important role in the early diagnosis of unusual EP. It should be considered after negative US findings, providing accurate evaluation of the site and the possible infiltration of these lesions, which help in the management of these patients. KEY POINTS: • MRI is being increasingly used as a problem-solving modality in ectopic pregnancy. • MRI plays an important role in early diagnosis of unusual ectopic pregnancy. • Knowledge of MRI features in EP is essential to determinate appropriate management.

Neurophysiological underpinnings of an intensive protocol for upper limb motor recovery in subacute and chronic stroke patients.

BACKGROUND: Upper limb (UL) motor impairment following stroke is a leading cause of functional limitations in activities of daily living. Robot-assisted therapy supports rehabilitation, but how its efficacy and the underlying neural mechanisms depend on the time after stroke is yet to be assessed. AIM: We investigated the response to an intensive protocol of robot-assisted rehabilitation in sub-acute and chronic stroke patients, by analyzing the underlying changes in clinical scores, electroencephalography (EEG) and end-effector kinematics. We aimed at identifying neural correlates of the participants' upper limb motor function recovery, following an intensive 2-week rehabilitation protocol. DESIGN: Prospective cohort study. SETTING: Inpatients and outpatients from the Neurorehabilitation Unit of Pisa University Hospital, Italy. POPULATION: Sub-acute and chronic stroke survivors. METHODS: Thirty-one stroke survivors (14 sub-acute, 17 chronic) with mild-to-moderate UL paresis were enrolled. All participants underwent ten rehabilitative sessions of task-oriented exercises with a planar end-effector robotic device. All patients were evaluated with the Fugl-Meyer Assessment Scale and the Wolf Motor Function Test, at recruitment (T0), end-of-treatment (T1), and one-month follow-up (T2). Along with clinical scales, kinematic parameters and quantitative EEG were collected for each patient. Kinematics metrics were related to velocity, acceleration and smoothness of the movement. Relative power in four frequency bands was extracted from the EEG signals. The evolution over time of kinematic and EEG features was analyzed, in correlation with motor recovery. RESULTS: Both groups displayed significant gains in motility after treatment. Sub-acute patients displayed more pronounced clinical improvements, significant changes in kinematic parameters, and a larger increase in Beta-band in the motor area of the affected hemisphere. In both groups these improvements were associated to a decrease in the Delta-band of both hemispheres. Improvements were retained at T2. CONCLUSIONS: The intensive two-week rehabilitation protocol was effective in both chronic and sub-acute patients, and improvements in the two groups shared similar dynamics. However, stronger cortical and behavioral changes were observed in sub-acute patients suggesting different reorganizational patterns. CLINICAL REHABILITATION IMPACT: This study paves the way to personalized approaches to UL motor rehabilitation after stroke, as highlighted by different neurophysiological modifications following recovery in subacute and chronic stroke patients.

Minimally Invasive Treatment of Stress Urinary Incontinence in Women: A Prospective Comparative Analysis between Bulking Agent and Single-Incision Sling.

INTRODUCTION: The study aims to compare the efficacy and safety of bulking agents and single-incision slings in the treatment of urinary incontinence in 159 patients during a 29-month follow-up period. MATERIAL AND METHODS: Of the 159 patients suffering from stress urinary incontinence, 64 were treated with bulking agents (PAHG Bulkamid®) and 75 with a single-incision sling (Altis®). The ICIQ-UI-SF (Incontinence Questionnaire-Urine Incontinence-Short Form), PISQ-12 (Pelvic Organ Prolapse/Urinary Incontinence Sexual Questionnaires short form), FSFI (Female Sexual Function Index), FSDS (Female Sexual Distress Scale), and PGI-I (Patient Global Improvement Index) were used to assess efficiency and quality of life. RESULTS: The bulking agents showed high efficacy and safety during the 29-month follow-up. Post-operative complications were recorded in both groups, with only two significant differences. The Bulkamid group experienced no pain, while 10.8% of the ALTIS group experienced groin pain and 5% experienced de novo urgency. Furthermore, patients treated with bulking agents experienced reduced nicturia (0.78 vs. 0.92 in patients treated with single-incision slings.). In both groups, we noticed a significant improvement in QoL (quality of life), with a halved ICIQ-UI-SF (International Consultation on Incontinence Questionnaire-Urine Incontinence-Short Form) score which was completed to assess the impact of urine symptoms. After 24 months of therapy, the Bulkamid group saw a decrease from 14.58 ± 5.11 at baseline to 5.67 ± 1.90 (p < 0.0001), whereas the ALTIS group experience a decrease from 13.75 ± 5.89 to 5.83 ± 1.78. Similarly, we observed an improvement in sexual function, with the number of sexually active patients increasing from 29 to 44 (56.4%) in the Bulkamid group (p = 0.041) and from 31 to 51 (61.7%) in the ALTIS group (p = 0.034). According to the most recent statistics, the PISQ-12, FSFI, and FSDS scores all demonstrated an improvement in women's sexual function. CONCLUSIONS: In terms of efficacy and safety, bulking agents had notable results over the 29-month follow-up period. Furthermore, the patients treated with bulking agents reported a lower incidence of postoperative complications and a no discernible difference in terms of quality of life and sexual activity compared to the ones treated with single-incision slings. Bulking agents can be considered a very reliable therapeutic option based on accurate patient selection.

Combined treatment with vaginal native tissue repair plus mid-urethral sling or pelvic floor muscle training in patients with anterior defect and occult stress urinary incontinence: quality of life and sexual function analysis.

BACKGROUND: The aim of this study was to compare the efficacy of vaginal native tissue repair (VNTR) combined with tension-free transobturator tape (TVT-O) or pelvic floor muscle training (PFMT) in terms of quality of life (QoL) and sexual function (SF) in women affected by anterior defect and occult stress urinary incontinence (OSUI). METHODS: One hundred forty-seven patients with symptomatic anterior defect with OSUI underwent VNTR. In 71 patients TVT-O was inserted and 76 underwent PFMT after surgery. Clinical exam, 3-day voiding diary and urodynamic testing were evaluated in preoperative and postoperative times. Specific questionnaires were also administered, in order to indagate disease perception and the impact on QoL and SF. RESULTS: Nine patients had postoperative pain in the TVT-O group vs. 0 patients in the PMFT group (P=0.001) and 7 patients reported de novo urgency vs. 3 in the two groups, respectively. At 12 weeks follow-up (FU), the first voiding desire was at 88.12+19.70 mL in VNTR+TOT vs. 102.29+19.13 (P=0.03); the mean number of voids (24 hours) was 9.95±2.66 vs. 6.14±1.77 (P=0.04), respectively. No significant differences in terms of QoL and SF were shown. CONCLUSIONS: This retrospective study suggests that VNTR+TVT-O and VNTR+PMFT have the same efficacy in terms of QoL and SF, with several post-operative complications, even if minor, in patients treated with combined surgery.

Evaluation of the efficacy and safety of single incision sling vs TVT-O in obese patients with stress urinary incontinence: Quality of life and sexual function analysis.

OBJECTIVES: The aim of the study is to demonstrate the best stress urinary incontinence (SUI) surgical technique for women with a Body mass index higher than 30. The results of Transvaginal Tension Free Vaginal Tape-Obturator and Mini-sling surgery were analyzed and compared through both clinical examination and standardized questionnaires at 36 months of follow-up. MATERIALS AND METHODS: This is a retrospective multicenter study over 159 women with SUI who underwent surgery. Seventy-eight women underwent TVT-O and 81 Mini-sling technique. Intra and post-operative complications were recorded. Patients were monitored for 36 months by analyzing symptoms, voiding diary, quality of life and sexual activity through standardized questionnaires. RESULTS: Complications had a low incidence in both groups and inter-group differences were superimposable. Only groin pain was statistically higher after TVT-O than after Mini-sling (12.8% vs1.2%, p = 0.03). At 36 months of follow-up, a statistically significant decrease in Positive stress test (%) and Q-Tip test (grade) was observed in both groups with no differences between them (p = 0.54 and p = 0.32 respectively). The mean number of daily voids was higher after TVT-O (p = 0.04) than after Altis (p = 0.22) with a significant difference in favor of the Altis group (p = 0.03). After 36 months, there were no significant differences between groups in terms of quality of life and sexual activity. PGI-I did not show any difference between groups (p = 0.21). CONCLUSION: TVT-O and Minisling had the same efficacy and results in the surgical treatment of SUI in obese women. Both techniques relieved their symptoms and improved their quality of life without any significant difference except for a lower incidence of post- Mini-sling complications.

Quality of life and sexual function evaluation in women with urogynecological diseases analyzed with telemedicine during the COVID-19 period: the beginning of a new era?

BACKGROUND: The aim of this study was to demonstrate that the implementation of remote medical care in the management of patients suffering from specific urogynecological diseases can be a valid alternative to outpatient visits leading to a huge saving of resources which can be used for real emergencies. Therefore, the primary aim of this study was to demonstrate that patients treated with telehealth had the same improvement in symptoms and Quality of Life as those treated with outpatient visits. METHODS: Observational analysis on women with urogynecological diseases was performed during restrictive measures period. One group of patients was assessed in the clinic and one group by video consultations. The population answered Female Sexual Function Index (FSFI), Female Sexual Distress Scale (FSDS), the Overactive Bladder Questionnaire Symptoms and Health-Related Quality of Life Short-Form Symptoms (OAB-Q), Prolapse Quality of Life Questionnaire (P-QoL), the Pelvic Pain and Urinary/Frequency Patient Symptom Scale (PUF) scores, the Short Form Health Survey questionnaires (SF-36) during the first visit and after 12 weeks. The primary endpoint was to evaluate the change in symptoms after the outpatient and telemedicine visit. The secondary endpoint was the evaluation of the telemedicine impact on the Quality of Life and sexual function. RESULTS: One hundred twenty-five patients were considered. Symptoms of overactive bladder, genitourinary syndrome, and recurrent urinary infections improved significantly in both groups with no significant differences. Sexual activity increased significantly in both groups with a significant change in FSFI and FSDS values. The SF-36 showed a significant change 12 weeks after the visit in both groups. CONCLUSIONS: Telemedicine is equally useful and effective as the outpatient visits in patients suffering from urogynecological diseases.

Menstrual cycle alterations in reproductive age women after anti COVID-19 vaccination. A survey in 419 Italian women and quality of life and sexual function evaluation.

BACKGROUND: Pharmacovigilance agencies did not collect data regarding menstrual changes after COVID-19 vaccination even if many women experienced it. Our aim was to evaluate whether COVID-19 vaccination is associated with secondary changes in menstrual cycle and to assess both quality of life (QoL) and sexual function (SF). METHODS: This study is a retrospective analysis referred to our Department from January 2021 to December 2021. The study cohort responded to same questionnaires before the second dose of vaccination (referring to previous 3 months) and 3 months after that (referring to three menstrual cycles after full-dose vaccination). The surveys administered were FSFI, FSDS, SF-36, MEDI-Q and the VAS-scale for dysmenorrhea. RESULTS: Four-hundred-nineteen vaccinated women were included in the study. The survey did not show a significant change in menstrual cycle length before and after COVID-19 vaccine (5.88±3.67 vs. 4.97±2.89, P=0.21); the interval between periods was significantly higher after a full-cycle vaccination (28.32±7.34 vs. 32.38±7.45, P<0.02); 32 patients (7.6%) developed amenorrhea after the second dose; VAS Scale did not change significantly (median range 3 (3-5) vs. 4 (3-6), P=0.20). MEDI-Q did not show significant variations before and after the vaccination (43.21±11.65 vs. 40.28±9.88, P=0.35). QoL and SF did not change significantly (FSFI median 27 [24-29] vs. 28 [25-30], P=0.12, FSDS median 9 [5-11] vs. 8 [4-12], P=0.22), SF-36 median 81 [70-85] vs. 82 [72-86], P=0.43). CONCLUSIONS: COVID-19 vaccination is associated with a significant change in intervals between menstrual cycles without other alterations in menstrual characteristics, in QoL or SF.

Iodized Salt May Not Be Sufficient to Guarantee an Adequate Iodine Intake in Pregnant Women.

Adequate iodine intake is of crucial importance in pregnancy to meet the thyroid hormone needs of both mother and fetus. In the present study, undertaken as a part of the surveillance actions following the introduction in Italy of a national salt iodination program in 2005, the iodine intake was investigated in 123 pregnant women and 49 control women living in the same area of central Italy. All the participants were screened for urinary iodine concentration (UIC), serum level of thyrotropin, free-thyroxine, free-triiodothyronine, and thyroid volume. Moreover, they were provided with a questionnaire on the use of iodine-containing salt or supplements. Control women had a median UIC of 102 µg/L, consistent with an iodine sufficiency, while in pregnant women the median UIC value was 108 µg/L, lower than the endorsed UIC of 150 µg/L. In addition, pregnant women showed a significantly increased median thyroid volume compared to controls. Interestingly, the median UIC did not differ between pregnant women not using iodine-containing salt or supplements and those regularly consuming iodized salt alone, while pregnant women with a daily intake of iodine-containing supplements had an adequate median UIC (168 µg/L). In conclusion, the data reported here showed that pregnant women and their fetuses are still exposed to the detrimental effects of iodine deficiency and that the consumption of iodine-containing supplements should be recommended in pregnancy.

Minimal disease activity in Gaucher disease: criteria for definition.

Gaucher disease type I is a metabolic disorder caused by a genetic deficiency of lysosomal ß-glucocerebrosidase that leads to accumulation of glucocerebroside in macrophages, thus causing damage in different organ systems. Enzyme replacement therapy with imiglucerase improves organ impairment and clinical manifestations, but patients differ in response to treatment. While clinical remission is the most desirable therapeutic outcome, a more realistic goal in patients with high disease burden is reasonably good clinical status despite persistence of residual biochemical or imaging abnormalities. Therefore, the concept of minimal disease activity--used in certain haematological or rheumatologic conditions--needs to be introduced in Gaucher disease, with a level of disease activity that patients and physicians consider a useful treatment target. In this paper, we propose specific parameters and criteria for defining minimal disease activity in Gaucher disease and its stability over time, based on three major systemic domains typically involved: haematological, visceral, and skeletal. Biomarker parameters were not included as criteria, because currently they do not adequately reflect disease evolution in individual patients. Neurological and respiratory domains were also excluded, as their involvement per se indicates severe disease unlikely to respond to enzyme replacement therapy and achieve minimal disease status. Our goal in defining minimal disease activity and stability is to identify a tool to facilitate treatment decisions in clinical practice.

Female fertility preservation: Impact of cancer on ovarian function and oocyte quality.

OBJECTIVE: To evaluate the influence of cancer on ovarian response and oocyte quality in controlled ovarian hyperstimulation (COH). METHODS: This prospective study conducted at the Physiopathology of Reproduction and Andrology Unit of Sandro Pertini Hospital enrolled 82 cancer patients undergoing controlled ovarian stimulation (COH) cycles for fertility preservation, and age- and date-matched controls undergoing COH for in vitro fertilization for male-factor infertility from June 2016 to November 2019. The interventions performed were COH, oocyte retrieval, and quality evaluation. Main outcome measures were maximal estradiol levels on the day of human chorionic gonadotropin administration, duration of stimulation, total amount of gonadotropins administered, number of oocytes retrieved, and rates of metaphase 2 oocytes and abnormal oocytes. All data were analyzed using the Statistical Package for the Social Sciences (IBM Corp., Armonk, NY, USA) 22.0. RESULTS: Intergroup comparisons (82 cancer patients and 180 patients in control group) showed a significant difference in ovarian response, especially for a significant higher number of abnormal oocytes in cancer patients (P < 0.0001). Regression analysis to assess the influence of the neoplastic process, regardless of the type, on ovarian response showed an effect on the main outcome measured due to cancer itself. CONCLUSION: Cancer influences the ovarian response, particularly the oocyte quality, during COH performed for fertility preservation.

Oocyte Quality Assessment in Breast Cancer: Implications for Fertility Preservation.

BACKGROUND: The aim of this study was to evaluate the effects of breast cancer on the ovarian response and on oocyte quality following controlled ovarian hyperstimulation (COH). METHODS: This retrospective case-control study evaluated the effects of breast cancer on the ovarian response and on the oocyte quality. Oncological patients with breast cancer undergoing controlled ovarian stimulation cycles for fertility preservation, and age- and date-matched controls undergoing COH for in vitro fertilization (IVF) for male or tubal factor infertility were included in the study. Two hundred and ninety-four women were enrolled: 105 affected by breast cancer and 189 healthy women in the control group. Both groups were comparable in terms of age, BMI, and AMH value. Maximal estradiol levels on the triggering day, duration of stimulation, total amount of gonadotropins administered, number of oocytes retrieved, rate of metaphase 2 oocyte production, and numbers of immature and dysmorphic oocytes were analyzed. RESULTS: Considering factors influencing the oocyte quality, such as age, BMI, AMH, duration of stimulation, E2 level on the triggering day, total FSH cumulative dose, stage, histotype, BRCA status, and hormone receptors, the univariate and multivariate analyses identified breast cancer as a risk factor for the presence of dysmorphic oocytes. CONCLUSIONS: The diagnosis of breast cancer does not seem to be associated with the impairment of the ovarian reserve, but is linked to a worsening oocyte quality.

Sequential combined approach in patients with mixed urinary incontinence: surgery followed by posterior tibial nerve stimulation.

AIM: The aim of the study is to demonstrate the efficacy of sequential combined treatment with Transobturator Tape (TOT) followed by Posterior Tibial Nerve Stimulation (PTNS) in patients with Mixed Urinary Incontinence (MUI); quality of life and patients' satisfaction was also assessed. METHODS: Retrospective analysis on women affected by MUI with prevalent Stress Urinary Incontinence (SUI) component. Women, divided in 2 groups, underwent different treatments, TOT vs TOT+PTNS. Population was assessed by medical history, previous pelvic surgery, clinical exam, urodynamic exams, pelvic ultrasound examination, and questionnaires (The International Consultation on Incontinence Questionnaire Short Form, Overactive Bladder Questionnaire, Health Related Quality of Life) comparing them before and after 12 weeks after treatment. RESULTS: 112 women were enrolled in the study. The mean age was 57.96±7.34 in the first group(N=60) and 58.29±6.14 in the second group(N=52). Peak flow (ml/s) statistically improved after treatment, 22.23±4.29 (TOT) vs 24.81±5.8 (TOT+PTNS). First voiding desire(ml) improved significantly between the two groups 108.72±19.24 vs 142.43±19.98. Maximum cystometric capacity (ml) in the TOT group at 12-weeks was 328.76±82.44 vs TOT+PTNS group of 396.26±91.21. Detrusor pressure at peak flow(cmH2O) showed a greater improvement in TOT+PTNS than TOT alone 14.45±6.10 vs 11.89±54.49. At 12-week, urinary diary and quality of life improved in terms of urgent urination events, mean number of voids, urge symptoms and nocturia events. The Patient Impression of Global Improvement (PGI-I) after 3 months was better in combined group. CONCLUSIONS: Combined and sequential TOT+PTNS is more effective compared to TOT alone in MUI patients with prevalent SUI component.

Connectivity Measures Differentiate Cortical and Subcortical Sub-Acute Ischemic Stroke Patients.

Brain lesions caused by cerebral ischemia lead to network disturbances in both hemispheres, causing a subsequent reorganization of functional connectivity both locally and remotely with respect to the injury. Quantitative electroencephalography (qEEG) methods have long been used for exploring brain electrical activity and functional connectivity modifications after stroke. However, results obtained so far are not univocal. Here, we used basic and advanced EEG methods to characterize how brain activity and functional connectivity change after stroke. Thirty-three unilateral post stroke patients in the sub-acute phase and ten neurologically intact age-matched right-handed subjects were enrolled. Patients were subdivided into two groups based on lesion location: cortico-subcortical (CS, n = 18) and subcortical (S, n = 15), respectively. Stroke patients were evaluated in the period ranging from 45 days since the acute event (T0) up to 3 months after stroke (T1) with both neurophysiological (resting state EEG) and clinical assessment (Barthel Index, BI) measures, while healthy subjects were evaluated once. Brain power at T0 was similar between the two groups of patients in all frequency bands considered (δ, θ, α, and ß). However, evolution of θ-band power over time was different, with a normalization only in the CS group. Instead, average connectivity and specific network measures (Integration, Segregation, and Small-worldness) in the ß-band at T0 were significantly different between the two groups. The connectivity and network measures at T0 also appear to have a predictive role in functional recovery (BI T1-T0), again group-dependent. The results obtained in this study showed that connectivity measures and correlations between EEG features and recovery depend on lesion location. These data, if confirmed in further studies, on the one hand could explain the heterogeneity of results so far observed in previous studies, on the other hand they could be used by researchers as biomarkers predicting spontaneous recovery, to select homogenous groups of patients for the inclusion in clinical trials.