Congenital lung malformations: a nationwide survey on management aspects by the Italian Society of Pediatric Surgery.

INTRODUCTION: Over the years, congenital lung malformations (CLM) management remains a controversial topic in pediatric thoracic surgery. The Italian Society of Pediatric Surgery performed a national survey to study the current management variability among centers, trying to define national guidelines and a standardized approach of children with congenital lung malformations. METHODS: Following a National Society approval, an electronic survey including 35 items on post-natal management was designed, focusing on surgical, anesthesiology, radiology and pneumology aspects. The survey was conducted contacting all pediatric surgical units performing thoracic surgery. RESULTS: 39 pediatric surgery units (97.5%) participated in the study. 13 centers (33.3%) were classified as high-volume (Group A), while 26 centers (66.7%) were low volume (Group B). Variances in diagnostic imaging protocols were observed, with Group A performing fewer CT scans compared to Group B (p = 0.012). Surgical indications favored operative approaches for asymptomatic CLM and pulmonary sequestrations in both groups, while a wait-and-see approach was common for congenital lobar emphysema. Surgical timing for asymptomatic CLM differed significantly, with most high-volume centers operating on patients younger than 12 months (p = 0.02). Thoracoscopy was the preferred approach for asymptomatic CLM in most of centers, while postoperative long-term follow-up was not performed in most of the centers. CONCLUSION: Thoracoscopic approach seems uniform in asymptomatic CLM patients and variable in symptomatic children. Lack of uniformity in surgical timing and preoperative imaging assessment has been identified as key areas to establish a common national pattern of care for CLM.

Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making.

Costello syndrome (CS) is a rare disorder affecting development and growth characterized by cancer predisposition and caused by mutations in HRAS proto-oncogene. Somatic HRAS mutations drive bladder carcinogenesis. The aim of this study was to analyze prevalence and histological characterization of bladder cancer (BC) in a cohort of patients with CS to help clinicians plan effective management strategies. This study included 13 patients above 10 years of age with molecular diagnosis of CS. Screening cystoscopies (31 total procedures) were performed to exclude BC. Any lesion was analyzed through cold-cup biopsy or trans-urethral resection of the bladder. According to histology, patients were followed-up with urinalysis and abdominal ultrasound yearly, and cystoscopies every 12-24 months. During study enrollment, bladder lesions (often multifocal) were detected in 11/13 patients. Histological analysis documented premalignant lesions in 90% of cystoscopies performed, epithelial dysplasia in 71%, and papillary urothelial neoplasm of low-malignant potential in 19%. BC G1/low grade (Ta) were removed in 10%. Overall, 76% of patients showed a bladder lesion at first cystoscopy. The present findings document that individuals with CS aged 10 years and older have high prevalence of bladder lesions (premalignant/malignant), highlighting the importance of personalized screening protocols.

Multimodal treatment of pediatric patients with Askin's tumors: our experience.

BACKGROUND: We report our experience and outcomes about the management of Askin's tumors [AT], which are rare primitive neuroectodermal tumors (PNETs) that develop within the soft tissue of the thoracopulmonary region, typically in children and adolescents. METHODS: We retrospectively analyzed the charts of 9 patients affected by AT (aged 6-15 years), treated at the Paediatric Oncology Unit of Gemelli University Hospital in Rome between January 2001 and December 2016. RESULTS: All nine patients underwent to biopsy followed by neoadjuvant chemotherapy. At the end of the neoadjuvant chemotherapy, they underwent to surgical removal of the residual tumor. Five patients with positive tumor margins and/or necrosis< 90% received local radiotherapy. Two patients with metastasis received an intensified treatment, with the addition of high dose adjuvant chemotherapy followed by peripheral blood stem cells rescue. No statistically significant correlation was found between outcome and gender; the presence of any metastasis and the radiotherapy. The overall survival was 65.14 months (95% confidence interval [95%CI], 45.81-84.48), and the 5 years survival was 60%, at a median follow-up of 53.1 months. CONCLUSION: Our study confirms that a multimodal treatment with surgery, chemotherapy, and radiotherapy may increase the survival in AT pediatric patients.

Correction to: Multimodal treatment of pediatric patients with Askin's tumors: our experience.

[This corrects the article DOI: 10.1186/S12957-018-1434-2.].

A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment.

BACKGROUND: Lymphatic malformations are vascular developmental anomalies varying from local superficial masses to diffuse infiltrating lesions, resulting in disfigurement. Patients' outcomes range from spontaneous regression to severe sequelae notwithstanding appropriate treatment. The current classification guides, in part, clinicians through the decision-making process, prognosis prediction and choice of therapeutic strategies. Even though the understanding of molecular basis of the disease has been recently improved, a standardized management algorithm has not been reached yet. RESULTS: Here, we report our experience on five children with different lymphatic anomalies of the head and neck region treated by applying a multidisciplinary approach reaching a consensus among specialists on problem-solving and setting priorities. CONCLUSIONS: Although restitutio ad integrum was rarely achieved and the burden of care is challenging for patients, caregivers and healthcare providers, this study demonstrates how the referral to expert centres can significantly improve outcomes by alleviating parental stress and ameliorating patients' quality of life. A flow-chart is proposed to guide the multidisciplinary care of children with LMs and to encourage multidisciplinary collaborative initiatives to implement dedicated patients' pathways.

Anorectal Malformations: The Pivotal Role of the Good Clinical Practice.

Anorectal malformations (ARM) without a fistula are a rare congenital condition. Although may seem more simple to repair compared with ARM with fistulas, surgery has proved to be challenging. We report the case of a newborn who presented a well-formed anus and normal genitalia; a blind-ending anal canal was detected after the insertion of a rectal probe, thus allowing the diagnosis of ARM. Anal probing straight after birth avoids the possible complications related to intestinal obstruction due to a missed diagnosis of ARM. Examination of the perineal region is an important step in the evaluation of the newborn and represents the tool for a prompt identification of ARM. Adding anal probing to accurate inspection perineum is a good clinical practice and should always be performed even in presence of a normal-looking perineum.

An Interesting Case of Neonatal AKI: What Is the Time to Consider Anuria Irreversible?

Acute kidney injury is a frequent complication for critical newborns. Its management is a significant challenge, especially in extremely low-birth-weight (ELBW) infants. Currently, peritoneal dialysis (PD) is the most manageable treatment. However, data are lacking regarding when diuresis can be declared irreversible relative to the start of PD. A female infant born at 28 + 0 weeks with a birth weight of 800 g by monochorionic diamniotic pregnancy, complicated by twin-to-twin transfusion syndrome, developed acute renal failure on the second day of life because of long-term intrauterine hypoperfusion. PD was started on day 7. The patient remained anuric until the 52nd day of dialysis, when she presented adequate urine output of 2.5 mL/kg/h and PD was suspended for 11 days. After an episode of sepsis, PD was re-started, and after 50 days of treatment, given a urine output of 1.5 mL/kg/h, it was discontinued. The patient died on day 132 after a disseminate infection, which led to multiorgan failure. In ELBW infants, PD is a valid therapeutic instrument to treat patients with renal failure. Despite the evidence of low renal functional reserve in these patients, the duration of recovery from diuresis after a period of anuria can be very long.

Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions.

Deletions of the short arm of chromosome 9 are associated with two distinct clinical entities. Small telomeric 9p24.3 deletions cause genital anomalies in male subjects, ranging from disorder of gonadal sex to genital differentiation anomalies, while large terminal or interstitial deletions result in 9p-malformation syndrome phenotype. The critical region for non-syndromic 46,XY sex reversal was assigned to a 1 Mb interval of chromosome 9p, extending from the telomere to the DMRT genes cluster. The 9p-syndrome was assigned to bands 9p22.3p24.1, but a phenotypic map has not been established for this condition, probably because of the lack of detailed molecular and/or phenotypic characterization, as well as frequent involvement of additional chromosome rearrangements. Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array-CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p-syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy. The observed deletion includes the 46,XY sex-reversal critical region, excluding the region so far associated with the 9p-syndrome. Genotype-phenotype correlations are tentatively established comparing our patient to seven other previously reported males with isolated terminal 9p deletions, finely defined at a molecular level. Our observations expand the 9p deletion clinical spectrum, and add significantly to the definition of a 9p-syndrome critical region.

Persistent Diarrhoea after Percutaneous Endoscopic Gastrostomy (PEG) in Paediatric Patient: Lessons from a Complication.

Percutaneous endoscopic gastrostomy (PEG) is increasingly used in paediatric population. We report a case of a 4-year-old boy who, two weeks after PEG placement, presented persistent diarrhoea interpreted as intolerance to enteral feeding. His CT scan confirmed the correct placement of gastrostomy, but during gastroscopy, gastrostomy could not be found in the stomach, and the following colonoscopy revealed migration of gastrostomy to the transverse colon. The patient required removal of the misplaced PEG and conservative management of the fistula with surgical replacement of gastrostomy. We faced an unusual presentation of PEG placement complication due to colon interposition during blind gastric puncture. In children with anatomical deformities, previous surgery, or low weight or malnutrition (<10 kg), we suggest laparoscopic-assisted gastrostomy to avoid the risk of a major complication.

The impact of constipation on pediatric emergency department: a retrospective analysis of the diagnosis and management.

BACKGROUND AND AIM: Functional constipation (FC) represents 95% of pediatric constipation cases. The aim of this study was to assess the prevalence of Functional Constipation in children admitted to Pediatric Emergency Department (ED) with acute abdominal pain, the demographic factors associated, the use of imaging exams and laboratory tests. METHODS: A retrospective observational study was conducted on 4100 medical records of children aged 0 to 18 years. RESULTS: Among children with abdominal pain, 11.3% of them had a discharge diagnosis of constipation and 45.5% underwent imaging exams. Most of children (93.9%) were discharged with home therapy and 6.5% of patients needed of additional visits. In ED 6.7% of patients underwent enema, 45.2% were discharged with indication to perform it at home. CONCLUSIONS: FC is a medical condition that could be managed in the outpatient setting, even if we observed a significant percentage of cases in ED. We observed over-utilization of radiologic tests, whereas the diagnosis should be clinical.

Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 era.

BACKGROUND: Suspending ordinary care activities during the COVID-19 pandemic made it necessary to find alternative routes to comply with care recommendations not only for acute health needs but also for patients requiring follow-up and multidisciplinary visits. We present the 'Contactless' model, a comprehensive operational tool including a plurality of services delivered remotely, structured according to a complexity gradient, aimed to cover diagnostic procedures and monitor disease progression in chronic pediatric patients. METHODS: A multidisciplinary and multiprofessional project team was recruited, in collaboration with patients' associations, to map a panel of available Evidence-Based solutions and address individual needs in full respect of the concept of personalized medicine. The solutions include a number of services from videoconsultations to more structure videotraining sessions. RESULTS: A modular framework made up of four three Macro-levels of complexity - Contactless Basic, Intermediate and Advanced - was displayed as an incremental set of services and operational planning establishing each phase, from factors influencing eligibility to the delivery of the most accurate and complex levels of care. CONCLUSION: The multimodal, multidisciplinary 'Contactless' model allowed the inclusion of all Units of our Pediatric Department and families with children with disability or complex chronic conditions. The strengths of this project rely on its replicability outside of pediatrics and in the limited resources needed to practically impact patients, caregivers and professionals involved in the process of care. Its implementation in the future may contribute to reduce the duration of hospital admissions, money and parental absence from work.

Groshong catheter-related complications in children with cancer.

BACKGROUND: Children with cancer undergo intensive treatments requiring reliable vascular access. Central venous catheters (CVCs) reduce discomfort due to venipuncture and the risks of extravasations from chemotherapy administration. The aim of our retrospective study was to assess safety and complications of Groshong devices in children with cancer. PATIENTS AND METHODS: One hundred ninety Groshong CVCs were placed in 166 children over a 5-year period. Early complications, and infectious and mechanical events were collected. RESULTS: The mean period of permanence of the CVCs was 330 days per patient (range 7-1,037). Of the febrile episodes, 36 (34.6%) were CVC-related, with an incidence rate of 0.56 per 1,000 CVC days. Severe neutropenia conditions most of all complicated CVC-related infectious events (94.4%) and Gram-negative bacteria were those most often isolated (55%). Twenty CVCs were affected by mechanical or thrombotic complications, with an incidence of 0.33 episodes per 1,000 CVC days. Mechanical complications led to CVC removal in 6 (3.1%) cases, while CVC-related infective episodes were responsible for 10 (5.2%) CVC removals. CONCLUSIONS: The long in situ duration of this device allowed it to be safely employed from the beginning to the end of the treatment period in most children.

Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia.

Disorders of sexual development represent a pathologic and clinical challenge. Many different clinical syndromes exist, and several classifications have been proposed in relation to different risks for malignant degeneration. The morphology, cytogenetics, and immunophenotype of a monolateral ovotestis in a 3-month-old individual with ambiguous genitalia and right inguinal mass are reported. The inguinal mass consisted of a tiny female genital tract with a hermaphroditic gonad with focal placental-like alkaline phosphatase-stained gonocytes; chromosome analysis disclosed a mosaic constitution: 46,XderY/45,X with a rearranged Y chromosome. A sharp morphologic distinction between true hermaphroditism and mixed gonadal dysgenesis probably does not exist, and cytogenetic characterization is mandatory. The presence of placental-like alkaline phosphatase-stained gonocytes indicates a high risk of malignant transformation, and justifies the surgical removal of the dysgenetic gonad. Fertility is unlikely.

Intraluminal Duplication of the Terminal Ileum with Ectopic Gastric Mucosa in an Infant: A Rare Cause of Intussusception.

Enteric duplication cysts are rare malformations mostly diagnosed before the age of two, with varied clinical presentations. Ectopic gastrointestinal epithelium can be present, and management involves surgical resection. A three-month-old girl presented with rectal bleeding due to an ileocolic intussusception. Abdominal ultrasound revealed a target sign in the right upper part of the abdomen. At hydrostatic contrast enema, an incomplete reduction of the intussusception was obtained: only a trickle of contrast material entered the terminal ileum. An exploratory laparotomy ensued with manual reduction of the intussusception. At the end of the maneuver, a soft intraluminal mass was palpated within the ileocecal valve. Thus, an ileocecal resection was performed. At histology, an intraluminal enteric duplication cyst was documented, containing ectopic gastric mucosa. Secondary intussusception should be suspected even in infants in case of abnormal findings at hydrostatic contrast enema. Intraluminal enteric duplication cysts may be a rare cause of intussusception.

Applicability and Effectiveness of Laparoscopic Procedures in Pediatrics.

Background: Three-dimensional (3D) laparoscopic surgery in pediatrics is still uncommon and few studies assessed in clinical practice advantages and disadvantages. Applicability and effectiveness of 3D versus two-dimensional (2D) laparoscopic procedures in congenital and acquired conditions in children are still unknown. We assessed applicability and effectiveness of 3D compared with 2D laparoscopic procedures in a pediatric setting. Methods: Two groups of patients who underwent 3D or 2D laparoscopic surgical procedures between May 2016 and April 2018 were compared. Each 3D/2D laparoscopic procedure was assessed with a surgeon/assistant questionnaire. Results: The 3D group included 30 patients and the 2D group 32 patients. The analysis of the 3D/2D questionnaire showed statistically significant superiority of 3D technical aspects (P = .0000), allowing a better spatial orientation and depth perception, reducing manipulation and trauma to tissues. Moreover, no difference was reported in physical complaints (P = .7084), but decreased visual fatigue was highlighted by surgeon (P = .000). Conclusions: In pediatric patients, 3D laparoscopic procedures prove to be more effective facilitating the surgeon's performance, while maintaining the benefits of minimally invasive surgery.

The Fakir Child: Clinical Observation or Invasive Treatment?

Accidental swallowing of foreign bodies is a common problem among the pediatric population (6 months to 3 years), especially if the foreign body (FB) presents a sharp end that could potentially lead to perforation of the gastrointestinal (GI) tract, resulting in infection and complications. We report the case of a 2-year-old, admitted to the Emergency Department of our hospital after ingesting two FBs classifiable as sharp objects, specifically two metal nails, both approximately 4-cm long, which had been swallowed in one go, as reported by the parents. The patient had been previously admitted to another hospital in the same region, where the Emergency Department (ED) doctors took an X-ray to confirm the ingestion. The foreign bodies ingestion was thus confirmed, and they were, according to their report, located in the GI tract over the stomach. The patient has been monitored through all of his stay in the hospital and the progression of the foreign bodies has been documented with serial X-rays. Since neither clinical nor radiological signs of perforation were present, putting the FBs in the small bowel, a non-operative expectant management was followed. After 4 days of admission, the patient had passed one of the two FBS and later on the second one, without any complication. Thereafter the patient was discharged. The management of sharp gastrointestinal foreign objects ingestion is still debated, and the data of the current literature are poor. A number of case reports and small case series describe successful conservative management for the majority of ingested sharp objects. According to the literature data, our report confirms that the ingestion of sharp objects and relatively big objects in a baby can be successfully non-operatively managed, even despite the age of the patient and though the FBs are multiple.

[Esophageal atresia. Personal experience and review of the literature]. / Atresia esofagea: nostra esperienza e revisione della letteratura.

INTRODUCTION: A long gap between the esophageal pouches in esophageal atresia is a relatively rare finding; it adds a significant challenge in the surgical correction and final outcome. MATERIAL AND METHODS: We retrospectively reviewed all cases of long gap esophageal atresia managed at our institution between 2000 and 2006, focusing on antenatal period, delivery weight, maurity, associated malformations, initial management and definitive repair. RESULTS: Sixteen patients with esophageal atresia were observed. Five of them (31%) presented a long gap. Delayed reconstruction was achieved in 4 children at an average age of 63 days (range 40-95 days). Primary repair was possible at birth in one case. All children had a direct anastomosis with one or more Livaditis myotomies in four cases. DISCUSSION: Surgical management of long gap esophageal atresia remains controversial. Most authors believe that elongation of the native esophagus provides a better functional outcome. In particular conditions, when this goal cannot be achieved, esophageal substitution is the last resort. Many techniques have been proposed to obtain esophageal elongation; although all the procedures give acceptable results, none of them has been unanimously accepted by pediatric surgeons. The circular or spiral myotomy is still the most commonly used technique to lengthen the esophagus in the repair of long gap atresias. CONCLUSIONS: In our limited experience circular myotomy (single or double) has proven an effective and reliable technique which allows direct repair of the esophagus even in the presence of initial gaps of 4 vertebral bodies.

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.