Robot-assisted Heller myotomy for achalasia

Achalasia is a rare neuromuscular esophageal disorder in children. There are many surgical options to treatment including botulinum toxin (Botox) injections, oral pharmacologic therapies with nitrates and calcium channel blockers, pneumatic dilation (PD), and surgical myotomy (open surgery, endoscopy, laparoscopy and recently robotic approach). In pediatric age, usually, Heller's myotomy is the main choice. Laparoscopic approach is known and standardized. Few robotic have been published. We decided to report our first case to share our experience with scientific community

Surgical treatment of retrosternal extraosseous Ewing Sarcoma in a 6-years old female: a clamshell approach with hemysternectomy and application of a non-crosslinked extracellular matrix

Background Ewing Sarcoma (ES) and Neuroblastoma (NB) belong to a family of tumours of primitive neuroectodermal origin (PNET) that occurs in both bone and soft tissue. Notwithstanding ES and NB are two distinct malignant tumours, sometimes there could be a link between them. Case report We describe a case of an extraosseous ES localized in the retrosternal region and the upper lobe of the right lung, which had been previously treated for NB in a 6 years old female. We treated this case with a clamshell approach which allows, in a one-step surgery, a complete excision of the mass reconstructing the hemysternectomy with a non-crosslinked matrix. Conclusion the clamshell approach is therefore useful to achieve the retrosternal space and the lung with a single surgical access. According to our experience, we consider appropriate to use a non-crosslinked matrix for sternal reconstruction

Relationship between Sensory Alterations and Repetitive Behaviours in Children with Autism Spectrum Disorders: A Parents' Questionnaire Based Study

The relationship between sensory profile and repetitive behaviours in autism spectrum disorder (ASD) has long been known. However, there is no consensus on the type of relationship that exists between them. This monocentric retrospective-prospective observational study aimed (a) to detect a clinical correlation between the severity of repetitive behaviours and the alterations of sensory profile in a sample of 50 children diagnosed with ASD; (b) to evaluate how different patterns of stereotypies and sensory alterations correlate with each other and with the main clinical-instrumental variables in the same sample. We enrolled 29 children in the retrospective phase of the study and 21 in the prospective phase. The Repetitive Behaviour Scale-Revised (RBS-R) and the Short Sensory Profile (SSP) were administered to the caregivers, and clinical-instrumental data were collected. SSP and RBS-R total scores directly correlated with a high significance rate. Among the subscales, the strongest correlations involved "Visual/Auditory Sensitivity", related to "Stereotyped Behaviour" and "Sameness Behaviour". "Under-Responsive/Seeks Sensation" related to "Stereotyped Behaviour". Sex and intellectual disability significantly influenced both the stereotypies and the sensory alterations of the examined population. In conclusion, this study provides new insights into the relationship between sensory alterations and repetitive behaviours in ASD children by using direct medical observation and parent observation

A rare cause of acute scrotum in a child: torsion of an epididymal cyst. Case report and review of the literature

Torsion of an epididymal cyst is an extremely rare cause of acute scrotum in children and in young boys. Its reported incidence is 5-20%. The treatment is usually conservative. Many cases (up to 60%) regress spontaneously, especially if below 3 cm. Few cases have been reported in Literature (7 cases/2018). We add our patient as eighth case. He was a 13-year-old boy who was admitted for acute scrotum. Ultrasound excluded torsion of the testis and he was managed for 5 day conservatively. Based on clinical history and physical exam, we decided to perform a prompt surgery that revealed a torsion of epididymal cyst that was confirmed by histological exam

Preputialplasty: Can be considered an alternative to circumcision? When, how, why? Experience of Italian centre

Background: Phimosis is a condition in which the foreskin cannot be portrayed on the glans. It is a physiological and common condition in the pediatric age. The pathological form derives from an inflammatory or traumatic lesion. Circumcision is the most common surgical treatment of phimosis but it is a controversial practice, especially in occidental world. Methods: We enrolled 61 patients with pathological phimosis (22/balanoposthitis, 18/painful erection, 21/ urinary discomfort) between 2015-2017. Results: All patients underwent preputialplasty. Conclusions: Various alternatives to circumcision have been described, as manual retraction therapy, topical steroid therapy, and many types of preputialplasty. We report our technique

Comparison and combination of a hemodynamics/biomarkers-based model with simplified PESI score for prognostic stratification of acute pulmonary embolism: findings from a real world study

Background: Prognostic stratification is of utmost importance for management of acute Pulmonary Embolism (PE) in clinical practice. Many prognostic models have been proposed, but which is the best prognosticator in real life remains unclear. The aim of our study was to compare and combine the predictive values of the hemodynamics/biomarkers based prognostic model proposed by European Society of Cardiology (ESC) in 2008 and simplified PESI score (sPESI).Methods: Data records of 452 patients discharged for acute PE from Internal Medicine wards of Tuscany (Italy) were analysed. The ESC model and sPESI were retrospectively calculated and compared by using Areas under Receiver Operating Characteristics (ROC) Curves (AUCs) and finally the combination of the two models was tested in hemodinamically stable patients. All cause and PE-related in-hospital mortality and fatal or major bleedings were the analyzed endpointsResults: All cause in-hospital mortality was 25% (16.6% PE related) in high risk, 8.7% (4.7%) in intermediate risk and 3.8% (1.2%) in low risk patients according to ESC model. All cause in-hospital mortality was 10.95% (5.75% PE related) in patients with sPESI score ≥1 and 0% (0%) in sPESI score 0. Predictive performance of sPESI was not significantly different compared with 2008 ESC model both for all cause (AUC sPESI 0.711, 95% CI: 0.661-0.758 versus ESC 0.619, 95% CI: 0.567-0.670, difference between AUCs 0.0916, p=0.084) and for PE-related mortality (AUC sPESI 0.764, 95% CI: 0.717-0.808 versus ESC 0.650, 95% CI: 0.598-0.700, difference between AUCs 0.114, p=0.11). Fatal or major bleedings occurred in 4.30% of high risk, 1.60% of intermediate risk and 2.50% of low risk patients according to 2008 ESC model, whereas these occurred in 1.80% of high risk and 1.45% of low risk patients according to sPESI, respectively. Predictive performance for fatal or major bleeding between two models was not significantly different (AUC sPESI 0.658, 95% CI: 0.606-0.707 versus ESC 0.512, 95% CI: 0.459-0.565, difference between AUCs 0.145, p=0.34). In hemodynamically stable patients, the combined endpoint in-hospital PE-related mortality and/or fatal or major bleeding (adverse events) occurred in 0% of patients with low risk ESC model and sPESI score 0, whilst it occurred in 5.5% of patients with low-risk ESC model but sPESI ≥1. In intermediate risk patients according to ESC model, adverse events occurred in 3.6% of patients with sPESI score 0 and 6.65% of patients with sPESI score ≥1.Conclusions: In real world, predictive performance of sPESI and the hemodynamic/biomarkers-based ESC model as prognosticator of in-hospital mortality and bleedings is similar. Combination of sPESI 0 with low risk ESC model may identify patients with very low risk of adverse events and candidate for early hospital discharge or home treatment.

Clinical Features, Cardiovascular Risk Profile, and Therapeutic Trajectories of Patients with Type 2 Diabetes Candidate for Oral Semaglutide Therapy in the Italian Specialist Care

Introduction: This study aimed to address therapeutic inertia in the management of type 2 diabetes (T2D) by investigating the potential of early treatment with oral semaglutide. Methods: A cross-sectional survey was conducted between October 2021 and April 2022 among specialists treating individuals with T2D. A scientific committee designed a data collection form covering demographics, cardiovascular risk, glucose control metrics, ongoing therapies, and physician judgments on treatment appropriateness. Participants completed anonymous patient questionnaires reflecting routine clinical encounters. The preferred therapeutic regimen for each patient was also identified. Results: The analysis was conducted on 4449 patients initiating oral semaglutide. The population had a relatively short disease duration (42%  60% of patients, and more often than sitagliptin or empagliflozin. Conclusion: The study supports the potential of early implementation of oral semaglutide as a strategy to overcome therapeutic inertia and enhance T2D management

Colonic atresia: the rarest atresia of the gastrointestinal tract

Colonic atresia (CA) is a rare cause of intestinal obstruction of the newborn. It is the rarest atresia of the gastrointestinal tract. The survival rate is 90%. However, the delayed diagnosis and surgery after 72 hours of life, have a high mortality rate. We report our experience and we revised our case after a review of the literature to analyze the critical aspects of our management and improve our practice

Urethral duplication in male epispadias: a very uncommon association. Review of Literature

BACKGROUND: Urethral duplication associated with epispadias is a rare malformation. Few cases are described in Literature. We report the experience of two centers to add to the Literature. METHODS: A retrospective study was conducted in two Italian Centers. All patients with urethral duplication associated with epispadias, treated from 1997 to 2017 were included. The preoperative work-up included renal-urinary ultrasonography and voiding cystourethrogram. All patients underwent surgery according to the Mitchell-Caione technique. Cosmetic result, urinary continence and satisfaction degree of patients at the last follow up were evaluated as outcomes. RESULTS: Six male patients with urethral duplication in epispadias were included. Two patients presented penile epispadias and four penopubic epispadias. Only one patient had urinary incontinence as presenting symptomatology. The diagnosis of urethral duplication was accidental during preoperative evaluation in the remaining five patients. At last follow up (mean 8.3 years) all patients but one presented good cosmetic result, one patient presented mild stress urinary incontinence, one presented nocturnal enuresis. The physical genital appearance was improved in all patients. CONCLUSIONS: Urethral duplication in association with epispadias is a rare urogenital abnormality. No classification is universally accepted. Based on our experience, we believe that the presence of any duplication should be carefully searched during surgery for male epispadias

Phonic and Motor Stereotypies in Autism Spectrum Disorder: Video Analysis and Neurological Characterization

Stereotypies are among the core symptoms of Autism spectrum disorder (ASD) and can cause significant clinical impairment. At present, phonic stereotypies in ASD have been scarcely explored. This study investigates the frequency, variability, and typologies of phonic and motor stereotypies in children with ASD and their association with clinical neurological variables. We examined 35 patients by recording standardized video sessions and administering the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Phonic stereotypies were present in 83.0% of the patients. The most prevalent subtypes were noncommunicative vocalizations (60.0%), single syllables (37.1%), and echolalic stereotypies (22.9%). Noncommunicative vocalizations were more frequent in nonverbal patients (OR = 4.629, p = 0.008), while echolalic stereotypies were more represented in verbal patients (OR = 0.279, p = 0.028). Patients with intellectual disability (ID) showed a higher number (F(1,26) = 9.406, p = 0.005) and variability (F(1,25) = 7.174, p = 0.013) of motor stereotypies, with a higher number (F(1,26) = 13.268, p = 0.005) and variability (F(1,26) = 9.490, p = 0.005) of stereotypies involving the head/trunk/shoulders category. Patients with guttural stereotypies showed a higher variability of total motor stereotypies (OR = 1.487, p = 0.032) and self-directed motor stereotypies (OR = 4.389, p = 0.042). These results, combined with a standardized video-analysis, document the frequency and variability of phonic stereotypies among children with ASD. Correlations between specific phonic stereotypies and verbal abilities should be investigated further