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To compare the diagnostic accuracy of the immunofluorescence (IF) technique and aSyn-seed amplification assay (aSyn-SAA) of skin and cerebrospinal fluid (CSF) in disclosing pathological α-syn in idiopathic idiopathic REM sleep behavior disorder (iRBD) as early phase of a synucleinopathy. We prospectively recruited 41 patients with iRBD and 40 matched clinical controls including RBD associated with type 1 Narcolepsy (RBD-NT1, 21 patients), iatrogenic causes (2 pt) or OSAS (6 pt) and 11 patients with peripheral neuropathies. IF from samples taken by skin biopsy and aSyn-SAA from skin and CSF samples were analysed blinded to the clinical diagnosis. IF showed a good diagnostic accuracy (89%) that was lower in the case of skin and CSF-based aSyn-SAA (70% and 69%, respectively) because of a lower sensitivity and specificity. However, IF showed a significant agreement with CSF aSyn-SAA. In conclusion, our data may favor the use of skin biopsy and aSyn-SAA as diagnostic tools for a synucleinopathy in iRBD.

PurposeColostomy is a frequent event in oncological or inflammatory bowel diseases. Its related morbidity includes retraction, infection and parastomal hernia (PH), which is a quite common late complication. Several surgical options are available for PH repair, the majority including mesh. However, results are often disappointing with relevant recurrence rates, up to 33%. The study aim was to assess the feasibility and effectiveness of prophylactic biosynthetic mesh (BIO-A®, polyglycolide-trimethylene carbonate copolymer) placed during colostomy fashioning, in reducing PH. A prospective randomized controlled double-blind trial was conducted from January 2014 to December 2019 to compare conventional end-colostomy with end-colostomy reinforced with BIO-A mesh in ante-rectus position in patients undergoing colon diversion in emergency surgery.MethodsPatients were clinically followed up at 3, 6, and 12 months and received a CT scan at 6 and 12 months. The postoperative morbidity and wound events were also evaluated.Results55 patients receiving conventional colostomy considered as Control Group and 55 patients receiving BIO-A mesh supported colostomy (Mesh Group) were included in the study. At 12 months, the incidence of PH was 9 (12.7%) and 24 (43.6%) in the Mesh Group and Control Group, respectively (p < 0.05). Postoperative morbidity was similar between Mesh Group and Control Group (7 [12.7%] vs 4 [7.3%], respectively; p = 0.340). The multivariable analysis showed that not using a mesh (p = 0.042), age > 70 years (p = 0.041), diabetes (p < 0.001), colon dilation > 7 cm (p < 0.0001) and COPD (p = 0.009) were all related with postoperative PH.ConclusionsThe prophylactic BIO-A mesh positioning during colostomy is an effective procedure reducing PH incidence at a 1 years follow-up guaranteeing low postoperative morbidity.Study dataset is available on ClinicalTrials.gov IDNCT04436887.

BackgroundIncisional hernia (IH) is one of the most common sequelae of laparotomy.Materials and methodsWe present a double-blind randomized study examining feasibility, safety and incisional hernia rate using a prophylactic Bio-A biosynthetic stripe (Gore) in a sub-lay position after midline laparotomy in patients undergoing operations in clean-contaminated and contaminated field. One hundred patients who underwent a midline laparotomy of at least 10 cm in a clean-contaminated and contaminated field were considered. Patients were divided into two groups: [Group A closed in double layer using PDS 0 with WL/SL of 1:4; Group B closure in double layer using PDS 0 and sub-lay positioning a 3 cm-wide BIO A (Gore) strip extended for the entire length of the incision]. The primary objective of the study was to identify IH rate in the two groups at 1- and 2-year follow-up. Secondary objective was to identify any differences in the two groups in terms of post-operative pain, morbidity and mortality.ResultsOut of a total of 100 patients included in the study, a 2-year follow-up was possible for 47 patients in group A and 45 in group B. The incidence of IH was 11/47 in group A (22%) and 3/45 in group B (6%) [p < 0.01]. Furthermore, no statistically significant difference was noted about post-operative morbidity and pain related to the wall closure method.ConclusionsThe prophylactic use of a BIO-A biosynthetic stripe (Gore) showed a statistically significant reduction in the incisional hernia rate in patients who underwent clean-contaminated and contaminated surgery.

Purpose Laparoscopic ventral hernia repair is a well-established technique with satisfying outcomes even at long term for the treatment of incisional and ventral hernia. However, the literature debate is still ongoing regarding the preferred surgical technique. Nowadays, two approaches are commonly adopted: the intraperitoneal onlay mesh repair (sIPOM) and the intraperitoneal onlay mesh reinforcement with defect closure before mesh placement (pIPOM). The aim of this prospective analysis is to compare the postoperative outcomes of patients treated for incisional hernia (IH) with sIPOM and pIPOM after 36 months follow-up in terms of recurrence, quality of life and wound events. Methods Patients receiving pIPOM and sIPOM for IH were actively followed up for 36 months. At the outpatient clinic, hernia recurrence (HR), mesh bulging (MB), quality of life with the Gastrointestinal Quality of Life Index (GIQLI) and wound events were assessed. Results Between January 2015 and January 2019, 98 patients underwent a pIPOM and 89 underwent an sIPOM. At 36 months, nine patients (4 in pIPOM and 5 in sIPOM) experienced an HR, while MB was recorded in four patients in pIPOM and nine in sIPOM. No statistically significant difference could be identified also in terms of final GIQLI score and wound events. Conclusions LVHR with or without fascial closure, also in our study, provides satisfactory results in terms of safety and efficacy. The discordant results in the literature are probably related to independent variables such as the type of mesh, the type of suture and closure technique. Therefore, was the funeral of sIPOM done too early? Study dataset is available on ClinicalTrials.gov ID NCT05712213

Background Surgical management of large ventral hernias (VH) has remained a challenge. Various techniques like anterior component separation and posterior component separation (PCS) with transversus abdominis release (TAR) have been employed. Despite the initial success, the long-term efficacy of TAR is not yet comprehensively studied. Authors aimed to investigate the early-, medium-, and long-term outcomes and health-related quality of life (QoL) in patients treated with PCS and TAR. Methods This multicenter retrospective study analyzed data of 308 patients who underwent open PCS with TAR for primary or recurrent complex abdominal hernias between 2015 and 2020. The primary endpoint was the rate of hernia recurrence (HR) and mesh bulging (MB) at 3, 6, 12, 24, and 36 months. Secondary outcomes included surgical site events and QoL, assessed using EuraHS-QoL score. Results The average follow-up was 38.3 ± 12.7 months. The overall HR rate was 3.5% and the MB rate was 4.7%. Most of the recurrences were detected by clinical and ultrasound examination. QoL metrics showed improvement post-surgery. Conclusions This study supports the long-term efficacy of PCS with TAR in the treatment of large and complex VH, with a low recurrence rate and an improvement in QoL. Further research is needed for a more in-depth understanding of these outcomes and the factors affecting them.

ObjectiveNarcolepsy is a lifelong disease, manifesting with excessive daytime sleepiness and cataplexy, arising between childhood and young adulthood. The diagnosis is typically made after a long delay that burdens the disease severity. The aim of the project, promoted by the “Associazione Italiana Narcolettici e Ipersonni” is to develop Red Flags to detect symptoms for early referral, targeting non-sleep medicine specialists, general practitioners, and pediatricians.Materials and methodsA multidisciplinary panel, including patients, public institutions, and representatives of national scientific societies of specialties possibly involved in the diagnostic process of suspected narcolepsy, was convened. The project was accomplished in three phases. Phase 1: Sleep experts shaped clinical pictures of narcolepsy in pediatric and adult patients. On the basis of these pictures, Red Flags were drafted. Phase 2: Representatives of the scientific societies and patients filled in a form to identify barriers to the diagnosis of narcolepsy. Phase 3: The panel produced suggestions for the implementation of Red Flags.ResultsRed Flags were produced representing three clinical pictures of narcolepsy in pediatric patients ((1) usual sleep symptoms, (2) unusual sleep symptoms, (3) endocrinological signs) and two in adult patients ((1) usual sleep symptoms, (2) unusual sleep symptoms). Inadequate knowledge of symptoms at onset by medical doctors turned out to be the main reported barrier to diagnosis.ConclusionsThis report will hopefully enhance knowledge and awareness of narcolepsy among non-specialists in sleep medicine in order to reduce the diagnostic delay that burdens patients in Italy. Similar initiatives could be promoted across Europe.

Objectives The purpose of our study was to describe the behavioral aspects and quality of life of childhood narcolepsy with cataplexy (NC). Methods We performed a case-control study based on self-administered questionnaires in 30 NC hypocretin-deficient patients, 39 epilepsy patients, and 39 healthy controls matched for sex and age. Results Our population of children and adolescents with NC showed an increase in internalizing problems in line with previous reports, typically represented by withdrawal and depression symptoms, and somatic complaints. The two patients groups share higher scores than controls for anxiety disorders, attention, social and oppositional-defiant problems. Psychopathological profile in NC were found to be positively correlated with early NC onset, diagnostic delay, nocturnal disturbed sleep, shorter sleep latency and greater number of Sleep Onset REM Periods at Multiple Sleep Latency Test. On the other hand, treatment and disease duration, positively influenced the behavioral evolution. The psychosocial health of pediatric NC also turned out to be worse than in healthy controls, while the physical health showed no significant differences. Conclusions We found a specific psychopatological profile in a large pediatric NC sample, compared with another neurological chronic disease (epilepsy) and healthy controls. Symptoms of withdrawal, depression and somatic complaints, were specific of NC, and not observed in the two other groups. Effective treatment, and self-awareness of the disease should be promoted in NC children for the positive impact on behaviour and psychosocial health.

Background: Monophasic high voltage stimulation (MHVS) is widely prescribed for the treatment of inflammation associated with muscle injury. However, limited scientific evidence exists to support its purported benefits in humans. Objective: To examine the efficacy of early initiation of MHVS treatment after muscle injury. Methods: In a randomised, cross over design, 14 men performed repetitive eccentric contractions of the elbow flexor muscles followed by either MHVS or control treatment. MHVS treatments were applied five minutes and 3, 6, 24, 48, 72, 96, and 120 hours after eccentric contractions. Results: MHVS resulted in a significant reduction (p<0.05) in delayed onset muscle soreness 24 hours after eccentric exercise compared with controls. Elbow extension was significantly increased immediately after administration of MHVS compared with controls. No significant differences were observed between MHVS treatment and controls for maximal isometric strength, flexed arm angle, or arm volume. Conclusions: Early and frequent application of MHVS may provide transient relief from delayed onset muscle soreness and short term improvements in range of motion after injurious exercise. However, MHVS treatment may not enhance recovery after muscle injury because of lack of improvements in strength and active range of motion.

Purpose The aims of this study were to evaluate several clinical and instrumental parameters in a large number of patients with constipation and incontinence as well as in healthy controls and discuss their potential implications in the functional aspects of these disorders. Methods Eighty-four constipated and 38 incontinent patients and 45 healthy controls were submitted to a protocol based on proctologic examination, clinico-physiatric assessment, and instrumental evaluation. Results Constipated and incontinent patients had significantly worse lumbar lordosis as well as lower rate in the presence of perineal defense reflex than controls. Constipated but not incontinent patients had a lower rate of puborectalis relaxation than controls. Furthermore, worse pubococcygeal tests and a higher rate of muscle synergies presence, either agonist or antagonist, were observed in both constipated and incontinent patients compared to controls. Conclusions This study has demonstrated strong correlations between physiatric disorders and the symptoms of constipation and incontinence. Further studies designed to demonstrate a causal relationship between these parameters and the success of a specific treatment of the physiatric disorders on the proctology symptoms are warranted.

Anal ultrasound is helpful in assessing organic anorectal lesions, but its role in functional disease is still questionable. The purpose of the present study is to assess anal-vaginal-dynamic perineal ultrasonographic findings in patients with obstructed defecation (OD) and healthy controls. Ninety-two consecutive patients (77 women; mean age 51 years; range 21-71) with symptoms of OD were retrospectively evaluated. All patients underwent digital exploration, endoanal and endovaginal ultrasound (US) with rotating probe. Forty-one patients underwent dynamic perineal US with linear probe. Anal manometry and defaecography were performed in 73 and 43 patients, respectively. Ultrasonographic findings of 92 patients with symptoms of OD were compared to 22 healthy controls. Anismus was defined on US when the difference in millimetres between the distance of the inner edge of the puborectalis muscle posteriorly and the probe at rest and on straining was less then 5 mm. Sensitivity and specificity were calculated by assuming defaecography as the gold standard for intussusception and rectocele and proctoscopy for rectal internal mucosal prolapse. Since no gold standard for the diagnosis of anismus was available in the literature, the agreement between anal US and all other diagnostic procedures was evaluated. The incidence of anismus resulted significantly higher (P < 0.05) in OD patients than healthy controls on anal (48 vs 22%), vaginal (44 vs 21%), and dynamic perineal US (53 vs 22%). A significantly higher incidence of rectal internal mucosal prolapse was observed in OD patients when compared to healthy controls on both anal (61.9 vs 13.6%, P < 0.0001) and dynamic perineal US (51.2 vs.9% P = 0.001). For the diagnosis of rectal internal mucosal prolapse, anal US had a 100% sensitivity and specificity. For diagnosis of rectal intussusception, anal US had an 83.3% sensitivity and 100% specificity and perineal US had a 66.6% sensitivity and 100% specificity. In the diagnosis of anismus, anal ultrasonography resulted in agreement with perineal and vaginal US, manometry, defaecography, and digital exam (P < 0.05). Other lesions detected by US in patients with OD include solitary rectal ulcer, rectocele and enterocele. Damage of internal and/or external sphincter was diagnosed at anal US in 19/92 (20%) patients, all continent and with normal manometric values. Anal, vaginal and dynamic perineal ultrasonography can diagnose or confirm many of the abnormalities seen in patients with OD. The value of the information obtained by this non-invasive test and its role in the diagnostic algorithm of OD is yet to be defined.