A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement

Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with hypotonia. We here describe a 2 years old child with HCS associated with other clinical features as congenital anomalies of kidney and urinary tract (primary obstructed megaureter, POM), cryptorchidism and cardiac involvement (patent foramen ovale with atrial septum aneurysm). To the best of our knowledge, cryporchidism and POM have never been reported before in patients with HCS. Moreover, a cardiac involvement has been described only in another case of HCS that, interestingly, presents the same genetic abnormalities as our patient. The diagnosis of HCS can be difficult because neurological signs are aspecific and kidney stones are commonly absent during the first months of life. A better understanding of the complete clinical scenario associated with HCS can help clinicians suspect, diagnose and treat HCS earlier with a positive influence on both neurological and renal outcome

Incidental Diagnosis of Giant Cell Tumor After Urachal Remnant Removal in a Thalassemic Child

Urachal anomalies are relatively uncommon; they usually present in childhood as urachal cysts, urachal sinuses, diverticula, and patent urachus. The malignant involvement of the urachus, although rare in children, is commonly found in adulthood when adenocarcinoma accounts for the majority of the cases, representing up to 20-30% of all adenocarcinomas of the bladder. Urachal tumors of variable histology have been reported in children and adolescents as single case report. We present the first case of a 4-year-old thalassemic boy, with an incidental finding of giant cell tumor arising in an urachal remnant

Fluorescence-Guided Surgery and Novel Innovative Technologies for Improved Visualization in Pediatric Urology

Fluorescence-guided surgery (FGS), three-dimensional (3D) imaging technologies, and other innovative devices are rapidly revolutionizing the field of urology, providing surgeons with powerful tools for a more complete understanding of patient-specific anatomy. Today, several new intraoperative imaging technologies and cutting-edge devices are available in adult urology to assist surgeons in delivering personalized interventions. Their applications are also gradually growing in general pediatric surgery, where the detailed visualization of normal and pathological structures has the potential to significantly minimize perioperative complications and improve surgical outcomes. In the field of pediatric urology, FGS, 3D reconstructions and printing technologies, augmented reality (AR) devices, contrast-enhanced ultrasound (CEUS), and intraoperative magnetic resonance imaging (iMRI) have been increasingly adopted for a more realistic understanding of the normal and abnormal anatomy, providing a valuable insight to deliver customized treatments in real time. This narrative review aims to illustrate the main applications of these new technologies and imaging devices in the clinical setting of pediatric urology by selecting, with a strict methodology, the most promising articles published in the international scientific literature on this topic. The purpose is to favor early adoption and stimulate more research on this topic for the benefit of children

Gastrostomy placement in children: Percutaneous endoscopic gastrostomy or laparoscopic gastrostomy?

The aim of this study is to compare the outcomes and the complications between the 2 most adopted procedures for gastrostomy placement: percutaneous endoscopic gastrostomy (PEG) and laparoscopic gastrostomy (LG) in children. We present our study on 69 patients (male: 46/female: 23): group 1 (37 patients, 54%) undergoing PEG, group 2 (32 patients, 46%) undergoing LG. A total of 5 major complications were observed all in the PEG group (13.5%), no major complication was observed in the LG group (P-value<0.05). A total of 12 minor complications were observed: 4 occurred in the PEG group (10.8%) and 8 (25%) in the laparoscopic gastrostmoy group, not statistically relevant. We suggest that the LG should be considered the preferred technique for gastrostomy placement in pediatric patients, particularly in newborns, children with significant skeletal malformations, and patients who underwent previous abdominal surgery

Hyperechogenic Bowel: Etiologies, Management, and Outcome according to Gestational Age at Diagnosis in 279 Consecutive Cases in a Single Center

Introduction The aim of the study was to investigate perinatal outcome of fetuses with hyperechogenic bowel (HB) in relation to gestational age at diagnosis. Materials and Methods This is a retrospective observational study of fetal HB cases from 2002 to 2012. Patients were divided into three groups according to trimester at diagnosis. For each group, data from fetal ultrasound examination, fetal medicine investigations, intrapartum cares, and neonatal outcome were obtained. Results A diagnosis of HB was made in 279 fetuses among them 17 (6%) during the first trimester, 186 (67%) during the second trimester, and 75 (27%) during the third trimester. A significant prevalence of maternal comorbidities was noticed in group 1 (12%: p = 0.02). A chromosomal defect was identified in 13% of the fetuses without difference among the three groups. HB was associated with prenatal infection in 11.5% (n = 32) of the cases, with an equal distribution between groups 2 and 3. Intrauterine growth retardation was noticed in 23% (n = 64) of the cases with a slightly high prevalence in groups 1 (35%). HB was the only ultrasonographic intestinal soft marker in 80% (n = 223) of the fetuses, two-third of them were detected during the first and the second trimesters (p = 0.001). However, HB was associated with bowel dilation in 33% of the cases diagnosed during the third trimester (p = 001). Ultrasonographic extraintestinal anomalies were identified in 30% of the fetuses with a higher prevalence in group 1 (59%). HB resolved spontaneously in 55 (19.7%) cases—without difference among the three groups. In group 1 we recorded a significant prevalence of intrauterine demise (23.5%, p = 0.004). Two hundred twenty-seven (81.3%) pregnancies resulted in live-born neonates; among them gastrointestinal anomalies were noticed in 12.5% with a significant prevalence in group 3 (36%) compared with 6 and 5.4% in groups 1 and 2, respectively (p = 0.001). Extraintestinal anomalies were confirmed in 27% of the cases, whereas postnatal mortality rate was of 7% without differences between the three groups. Conclusion Detection of HB during the first trimester is associated with an increased risk for maternal comorbidities, intrauterine growth retardation, and adverse pregnancy outcome. Moreover, if HB is detected during the second trimester, it is associated with a favorable prognosis. Otherwise, HB detected during the third trimester is associated with a significant risk of gastrointestinal anomaly

Vacuum assisted closure for the treatment of complex wounds and enterocutaneous fistulas in full term and premature neonates: a case report

The aim of this study is to describe the use of Vacuum assisted closure for the treatment of complex wounds and enterocutaneous fistulas in full term and premature neonate

Isolated Fetal Ascites, Neonatal Outcome in 51 Cases Observed in a Tertiary Referral Center

Introduction Prenatal detection of isolated ascites is a rare finding on ultrasound, usually suggestive of an underlying pathology that may negatively impact on the pregnancy and neonatal outcome. The purpose of the present study was to evaluate the outcome of primary isolated ascites in relation to gestational age (GA) at diagnosis. Materials and Methods Data were prospectively collected for fetuses with ascites that have been followed in our center of prenatal diagnosis and therapy from 2004 to 2014. Patients have been divided in group I when ascites was detected before the 24th week of GA and group II if it was noticed later. Prenatal workup included detailed ultrasound, maternal blood group and presence of antibodies, maternal infection screening, fetal karyotyping, and if needed fetal paracentesis. Postnatal data included GA at birth, mode of delivery, weight at birth, neonatal and surgical outcome. Results During the study period, 51 fetuses were included. Among them, 28 in group I and 23 in group II. An associated anomaly was prenatally identified in 84% of the fetuses. Prenatal demise occurred only in patients belonging to group I for an overall incidence of 10%. An associated disease was confirmed after birth in 61% of cases in group I and in 74% in group II (p = ns). There was a higher incidence of gastrointestinal pathology in group II than in group I (47 vs. 10%, p = 0.004); with a significant prevalence of meconium peritonitis (32 vs. 4%, p = 0.016). Nine patients (17.6%) died after birth, all in group I, because of major systemic malformations. Overall, the postnatal outcome was good in 63% (n = 32) of the cases, and more than half of them belonged to group II (p = 0.003). Conclusion A wide range of etiologies have been found to be associated with isolated fetal ascites. A systematic diagnostic workup and multidisciplinary prenatal counseling can improve the accuracy of prenatal identification of associated pathologies. The early detection of fetal ascites, before the 24th week of GA, is associated with a significant risk of perinatal death; otherwise, a late diagnosis of fetal ascites is associated with an increased risk of gastrointestinal diseases, especially with meconium peritonitis

Regione Toscana, Piano di indirizzo territoriale con valenza di piano paesaggistico

Redatto tra 2012 e 2014 durante l'assessorato di Anna Marson, il Piano di indirizzo territoriale con valenza di piano paesaggistico (art. 145 del DL 42/2004) è parte del documento di indirizzo della pianificazione regionale, PIT Regione Toscana, ai sensi della LR 65/2014. Il Piano paesaggistico è approvato dal Consiglio regionale in data 27 marzo 2015

Prosafe: a european endeavor to improve quality of critical care medicine in seven countries

BACKGROUND: long-lasting shared research databases are an important source of epidemiological information and can promote comparison between different healthcare services. Here we present ProsaFe, an advanced international research network in intensive care medicine, with the focus on assessing and improving the quality of care. the project involved 343 icUs in seven countries. all patients admitted to the icU were eligible for data collection. MetHoDs: the ProsaFe network collected data using the same electronic case report form translated into the corresponding languages. a complex, multidimensional validation system was implemented to ensure maximum data quality. individual and aggregate reports by country, region, and icU type were prepared annually. a web-based data-sharing system allowed participants to autonomously perform different analyses on both own data and the entire database. RESULTS: The final analysis was restricted to 262 general ICUs and 432,223 adult patients, mostly admitted to Italian units, where a research network had been active since 1991. organization of critical care medicine in the seven countries was relatively similar, in terms of staffing, case mix and procedures, suggesting a common understanding of the role of critical care medicine. conversely, icU equipment differed, and patient outcomes showed wide variations among countries. coNclUsioNs: ProsaFe is a permanent, stable, open access, multilingual database for clinical benchmarking, icU self-evaluation and research within and across countries, which offers a unique opportunity to improve the quality of critical care. its entry into routine clinical practice on a voluntary basis is testimony to the success and viability of the endeavor