Juvenile Granulosa Cell Tumor of the Testis: Prenatal Diagnosis and Management.

Prepubertal primary testicular tumors account for ∼1% of all pediatric solid tumors. We report a new case of prenatal diagnosis of juvenile-type granulosa cell tumor (JGCT). A fetal ultrasound performed at the 38th week of gestation for suspected nonvertex presentation identified a left multilocular septated cystic testicular mass, suggestive for JGCT. At birth, a painless left scrotal mass was detected. Ultrasound re-evaluation excluded torsion of the testis. Tumor markers and abdominal ultrasound were normal for age. Inguinal exploration revealed a cystic mass beneath the tunica albuginea that had replaced all the normal parenchyma. Since organ-sparing surgery was thus not feasible, an orchiectomy was performed and diagnosis of JGCT was confirmed. At 7-year follow-up, the child presented an uneventful outcome. Our case shows that neonatal JGCT, which has an intrauterine genesis, can be diagnosed prenatally by ultrasound in the last weeks of pregnancy.

Intestinal Duplication and Hirschsprung's Disease: An Extremely Rare and Misleading Combination.

Hirschsprung's disease and, more rarely, intestinal duplication can both cause intestinal obstruction in neonates. The simultaneous occurrence of these two diseases is reported in only two studies, and in both cases, intestinal duplication was an incidental finding, as it had not determined clinical intestinal occlusion. This paper reports a unique case of coexistence of the two conditions, with both causing intestinal obstruction, delayed appropriate, and definitive surgical treatment.

Thoracoscopic Treatment of Pneumothorax in Marfan Syndrome: Hemostatic Patch to Support Lung Resection Recovery.

INTRODUCTION: In selected patients, the absorbable fibrin patch TachoSil® is superior to standard surgical treatment in reducing air leakage after pulmonary lobectomy. Pulmonary involvement is not considered a main feature of Marfan syndrome (MFS); however, spontaneous pneumothorax (SP) with a high rate of recurrence is frequently reported. We describe the use of TachoSil® in the supportive treatment of recurrent pneumothorax in a girl with MFS. CASE REPORT: A 12-year-old girl with a previous diagnosis of MFS and recurrent history of left spontaneous pneumothorax was submitted to thoracoscopic atypical lung resection. Two patches (9.5 × 4.8 cm) were cut from the adhesive/foam complex (TachoSil®) and were pressed against the sutured area as supportive treatment. The patient recovered with no further SP recurrences. CONCLUSIONS: The use of the TachoSil® surgical patch may be useful in pneumothorax supportive treatment, particularly in pediatric MFS by ameliorating the mechanical strength of the lung.

Pediatric Laparoscopy and Adaptive Oxygenation and Hemodynamic Changes.

Adaptive changes in oxygenation and hemodynamics are evaluated during pediatric laparoscopy. The children underwent laparoscopy (LAP Group, n=20) or open surgery (Open Group, n=10). Regional cerebral (rScO2) and peripheral oxygen saturation (SpO2), heart rate (HR), diastolic (DP) and systolic pressure (SP) were monitored at different intervals: basal (T0); anesthesia induction (T1); CO2PP insufflation (T2); surgery (T3); CO2PP cessation (T4); before extubation (T5). At T1, in both the LAP and Open groups significant changes in rScO2, DP and SP were recorded compared with T0; a decrease in SatO2 was also observed at T5. In the LAP group, at T2, changes in HR related to CO2PP pressure and in DP and SP related to IAP were noted; at T4, a SP change associated with CO2PP desufflation was recorded. Open group, at T3 and T5 showed lower rScO2 values compared with T1. Pneuperitoneum and anesthesia are influent to induce hemodynamics changes during laparoscopy.

Nutritional status and metabolic profile in neurologically impaired pediatric surgical patients.

BACKGROUND: Malnutrition is reported in pediatric neuromotor disability and impacts the child's health. We described the nutritional and metabolic status in neurologically impaired (NI) children undergoing surgery. METHODS: Anthropometry, body composition, hormonal and nutritional evaluations were performed in 44 NI subjects (13.7±8.0 years). Energy needs were calculated by Krick's formula. Metabolic syndrome (MS) was defined applying the following criteria (≥3 defined MS): fasting blood glucose >100 mg/dL and/or homeostasis model assessment for insulin resistance (HOMA-IR) >97.5th percentile, trygliceride level >95th percentile, high-density lipoprotein (HDL)-cholesterol level <5th percentile, systolic/diastolic pressure >95th percentile; whilebody mass index - standard deviation score (BMI-SDS) <2 and biochemical malnutrition markers (≥2) defined undernutrition. RESULTS: Energy intake was not adequate in 73.8% of the patients; no correlation between energy intake and BMI was noted. Undernutrition was noted in 34.1% of patients and MS in 11.36% of subjects. Fifty percent of the patients presented with insulin resistance, which was not related to BMI, body composition or other MS components. CONCLUSIONS: Nutritional and metabolic monitoring of disabled children and young adults is recommended to prevent adverse outcomes associated with malnutrition.

Identification of Autophagy-Related Genes and Their Regulatory miRNAs Associated with Celiac Disease in Children.

Celiac disease (CD) is a severe genetic autoimmune disorder, affecting about one in 100 people, where the ingestion of gluten leads to damage in the small intestine. Diagnosing CD is quite complex and requires blood tests and intestinal biopsy examinations. Controversy exists regarding making the diagnosis without biopsy, due to the large spectrum of manifesting symptoms; furthermore, small-intestinal gastroscopy examinations have a relatively complex management in the pediatric population. To identify novel molecular markers useful to increase the sensitivity and specificity in the diagnosis of pediatric CD patients, the expression levels of two key autophagy executor genes (ATG7 and BECN1) and their regulatory validated miRNAs (miR-17 and miR-30a, respectively) were analyzed by relative quantitative real-time-PCR on a cohort of confirmed CD patients compared to age-related controls. Among the investigated targets, the non-parametric Mann-Whitney U test and ROC analysis indicated the highest significant association of BECN1 with CD status in the blood, while in intestinal biopsies, all of the investigated sequences were positively associated with CD diagnosis. Nomogram-based analysis showed nearly opposite expression trends in blood compared to intestine tissue, while hierarchical clustering dendrograms enabled identifying CD and control subgroups based on specific genes and miRNA expression signatures. Next, using an established in vitro approach, through digested gliadin administration in Caco-2 cells, we also highlighted that the modulation of miR-17 endogenous levels using enriched exosomes increased the intracellular autophagosome content, thereby altering the autophagic status. Altogether, these results highlighted novel molecular markers that might be useful to increase the accuracy in CD diagnosis and in molecular-based stratification of the patients, further reinforcing the functional involvement of the regulation of the autophagy process within a digestive and autoimmune-related disorder as CD.

Laparoscopy in children and its impact on brain oxygenation during routine inguinal hernia repair.

BACKGROUND: The systemic impact of intra-abdominal pressure (IAP) and/or changes in carbon dioxide (CO2) during laparoscopy are not yet well defined. Changes in brain oxygenation have been reported as a possible cause of cerebral hypotension and perfusion. The side effects of anaesthesia could also be involved in these changes, especially in children. To date, no data have been reported on brain oxygenation during routine laparoscopy in paediatric patients. PATIENTS AND METHODS: Brain and peripheral oxygenation were investigated in 10 children (8 male, 2 female) who underwent elective minimally invasive surgery for inguinal hernia repair. Intraoperative transcranial near-infrared spectroscopy to assess regional cerebral oxygen saturation (rScO2), peripheral oxygen saturation using pulse oximetry and heart rate (HR) were monitored at five surgical intervals: Induction of anaesthesia (baseline T1); before CO2insufflation induced pneumoperitoneum (PP) (T2); CO2PP insufflation (T3); cessation of CO2PP (T4); before extubation (T5). RESULTS: rScO2decreases were recorded immediately after T1 and became significant after insufflation (P = 0.006; rScO2decreased 3.6 ± 0.38%); restoration of rScO2was achieved after PP cessation (P = 0.007). The changes in rScO2were primarily due to IAP increases (P = 0.06). The HR changes were correlated to PP pressure (P < 0.001) and CO2flow rate (P = 0.001). No significant peripheral effects were noted. CONCLUSIONS: The increase in IAP is a critical determinant in cerebral oxygenation stability during laparoscopic procedures. However, the impact of anaesthesia on adaptive changes should not be underestimated. Close monitoring and close collaboration between the members of the multidisciplinary paediatric team are essential to guarantee the patient's safety during minimally invasive surgical procedures.

Fungal Appendicitis in Immunocompromised Children. Indications and Contraindications for Laparoscopic Appendectomy: A Report on 2 Successful Cases.

In leukemic patients, appendectomy must be approached with caution because of the increased risk of complications. Fungal appendicitis is rare and only a few cases have been described in the literature, particularly in immunocompromised individuals in whom this infection can be fatal. We present 2 pediatric patients with acute myeloid leukemia, who developed appendicitis during the postchemotherapy neutropenic phase, while receiving antifungal prophylaxis. Fever was the first sign of infection. Laparoscopic appendectomy was performed without postoperative complications. The histologic examination and the culture analysis showed the presence of fungal elements; systemic fungal infection was also excluded. The risk is increased in immunocompromised children with fungal appendicitis and the signs of peritoneal irritation are not always obvious. The histopathologic demonstration of fungal elements and tissue reaction is mandatory for a definitive diagnosis. Laparoscopic appendectomy should be considered as the gold standard procedure to avoid fungal dissemination. Moreover, laparoscopic surgery and its inherent mini-invasive surgical advantages may improve the overall survival without incurring significant complications.

Plunging Ranula in Children: Case Report and Literature Review.

Few cases of plunging ranulas (PRs) occur during childhood and the lesions are frequently misdiagnosed. Here, a PR in a child is reported along with a literature review. A seven-year-old female complaining of swelling in the midline neck, left-submandibular region, was evaluated. No oral cavity or major salivary glands abnormalities were detected. On palpation, a soft, painless, and fluid-containing mass was observed. The suspicion PR was performed by ultrasound. The diagnosis was confirmed with a histopathological examination. The lesion was removed with a cervical approach, without recurrence. PR is an uncommon condition in children under 10 years of age. Differential diagnosis depends on clinical examination and ultrasonography. A computed tomography-scan and magnetic resonance imaging can be performed if the diagnosis remains uncertain. In pediatrics, the key to success of the treatment may rely on the radical excision of the cyst and sublingual gland, via an intraoral or submandibular approach.

Endoscopic Surveillance for Congenital Diaphragmatic Hernia: Unexpected Prevalence of Silent Esophagitis.

Introduction Gastroesophageal reflux disease (GERD) is a frequent comorbidity after congenital diaphragmatic hernia (CDH) repair. Our aim was to evaluate the clinical and endoscopic prevalence of esophagitis in a long-term follow-up of CDH patients. Materials and Methods Patients operated on for posterolateral CDH and undergoing general anesthesia for concomitant pathologies between January and October 2013 were included in the study. GERD was investigated both clinically (Manterola questionnaire) and endoscopically. The severity of esophagitis was evaluated according to the Hetzel-Dent classification and multiple biopsies were performed. The correlation between clinical score and severity of esophagitis was evaluated. Results Twelve patients were included in the study (mean age: 14.5 years; range, 9-18 years). Only three children (25%) had a pathological questionnaire. At endoscopy, three children (25%) were affected by grade 1 esophagitis, six (50%) by grade 2, two (17%) by grade 3, and one (8%) by grade 4. One of the children presented Barrett esophagus. A moderate negative correlation was found between clinical data and endoscopic findings (r: -0.54 and p: 0.067). Conclusion Even in the absence of symptoms, esophagitis revealed to have a high prevalence in CDH patients. A long-term clinical and instrumental follow-up is mandatory to early diagnose and treat GERD.

Laparoscopic repair of voluminous symptomatic hiatal hernia using absorbable synthetic mesh.

INTRODUCTION: Hiatal hernia is a common disorder and a controversial topic. In symptomatic voluminous hernias laparoscopic surgery and use of mesh can be considered. An initial experience in voluminous hiatal hernia laparoscopic repair using absorbable glycolic acid/trimethylene carbonate synthetic mesh is reported. MATERIAL AND METHODS: Retrospective study from an institutional database was performed to analyze laparoscopic hiatal hernia repair using absorbable synthetic mesh from January 2010 to December 2013. All preoperative symptoms and exams were collected and a standardized procedure was performed. Clinical and radiological follow-up was performed. RESULTS: Eight patients underwent laparoscopic repair of hiatal hernia performed by two highly skilled laparoscopic surgeons. One Toupet and seven Nissen fundoplications were tailored. No conversions into laparotomy, neither intraoperative complications nor mortality occurred. After a median follow-up of 23.5 months (range 14 - 44) no mesh complications occurred and all patients are asymptomatic. Two radiological recurrences (25%) were detected. CONCLUSIONS: Voluminous symptomatic hiatal hernias can be successfully treated in a high-volume and long-term experienced laparoscopic surgical center by the use of an absorbable synthetic mesh. Further studies and a longer-term follow-up are necessary to confirm this preliminary report.