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It is reported that many infants with CDH have evidence of brain injury on postnatal brain magnetic resonance imaging (MRI). Results HT

To describe ultrasound features of fetal ovarian cysts as reported by the original ultrasound examiner and according to IOTA terminology. Ovarian cysts with low level content could be managed expectantly, whereas ovarian cysts with other cyst content should be managed with postnatal surgery, due to the high risk of necrosis at final histology. [Extracted from the article]

Background: Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1). Prompt recognition of typical signs of neonatal presentation, such as characteristic facial anomalies with senile appearance, arthrogryposis, and campto-arachnodactyly, is fundamental for performing an early cardiological examination. This usually reveals rapidly progressive cardiovascular disease due to severe atrioventricular valve dysfunction., Case Presentation: Herein, we report the case of an early-onset cardiac failure in a neonate with Marfan syndrome, with a brief review of the literature of cases with cardiac involvement in neonatal age. Clinical exome sequencing identified the novel heterozygous de novo missense variant c.3152T > G in FBN1 gene (NM_000138.4), causing the aminoacidic change p.Phe1051Cys. Phenotype-genotype correlation led to a multidisciplinary diagnostic and management workflow., Conclusion: The prompt recognition of a typical phenotype such as that of Marfan syndrome should lead to a detailed evaluation and close follow-up of cardiac morphology and function. Indeed, multi-disciplinary evaluation based on genotype-phenotype correlations of nMFS cases is essential to finding out the best medical and surgical approach, predicting the relevant impact on patient prognosis, and adequately counseling their families., (© 2024. The Author(s).)

Objective: To evaluate fetal brain development using MRI (magnetic resonance imaging) in CDH (congenital diaphragmatic hernia)., Methods: 52 isolated left CDH and 104 control fetuses were imaged using MRI. Brain morphometry (Biparietal diameter-BPD, brain fronto-occipital diameter-BFOD, third ventricle, posterior ventricles, transcerebellar diameter-TCD, anteroposterior and craniocaudal cerebellar vermis diameter-AP and CC) and cortical structures (bilateral cingulate fissure-CF, insular fissure-IF, insular depth - ID) were compared with controls using Mann-Whitney test., Results: Median gestational age at MRI (p = 0.95)and the median biparietal diameter (p = 0.737) were comparable. Among morphometric parameters, only the brain fronto-occipital diameter was significantly smaller in CDH (p = 0.001) and the third ventricle was significantly greater in CDH (<0.0001). Among cortical structures, the cingulate and insular fissures were significantly deeper in CDH fetuses (p < 0.0001) as the insular depth ID was smaller in CDH (p < 0.03)., Conclusions: CDH fetuses have a smaller fronto-occipital diameter, reduced insular depth, deeper cingulate and insular fissure, and greater third ventricle width as compared to controls. These findings suggest that left CDH may have an impact on fetal brain development with an overall reduction in brain volume., (© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Background In congenital diaphragmatic hernia (CDH) survivors, failure to thrive is a well-known complication, ascribed to several factors. The impact of lung volume on growth of CDH survivors is poorly explored. Our aim was to evaluate if, in CDH survivors, lung volume (LV) after extubation correlates with growth at 12 and 24 months of life. Methods LV (measured as functional residual capacity-FRC) was evaluated by multibreath washout traces with an ultrasonic flowmeter and helium gas dilution technique, shortly after extubation. All CDH survivors are enrolled in a dedicated follow-up program. For the purpose of this study, we analyzed the correlation between FRC obtained shortly after extubation and anthropometric measurements at 12 and 24 months of age. We also compared growth between infants with normal lungs and those with hypoplasic lungs according to FRC values. A p < 0.05 was considered as statistically significant. Results We included in the study 22 CDH survivors who had FRC analyzed after extubation and auxological follow-up at 12 and 24 months of age. We found a significant correlation between FRC and weight Z-score at 12 months, weight Z-score at 24 months and height Z-score at 24 months. We also demonstrated that CDH infants with hypoplasic lungs had a significantly lower weight at 12 months and at 24 months and a significantly lower height at 24 months, when compared to infants with normal lungs. Conclusion We analyzed the predictive value of bedside measured lung volumes in a homogeneous cohort of CDH infants and demonstrated a significant correlation between FRC and growth at 12 and 24 months of age. An earlier identification of patients that will require an aggressive nutritional support (such as those with pulmonary hypoplasia) may help reducing the burden of failure to thrive., (Copyright © 2021. Published by Elsevier Inc.)

Objectives: To compare ultrasound (US) and magnetic resonance imaging (MRI) in the assessment of mediastinal shift angles (MSAs) in fetuses affected by isolated left congenital diaphragmatic hernia (CDH). The use of MRI-MSA and US-MSA as prognostic factor for postnatal survival in fetal left CDH was also explored., Methods: This was an observational study of 29 fetuses with prenatally diagnosed isolated left CDH, assessed with both US and MRI examinations between January 2015 and December 2018. The US-MSA measurements performed within 2 weeks from the MRI assessment were considered for the analysis. The primary outcome was the postnatal survival rate., Results: No significant difference between US and MRI MSAs was detected ( p  = .419). Among the 29 cases, there were 21 alive infants, for an overall postnatal survival rate of 72.41%. After stratifying for postnatal survival, the best cutoffs with the highest discriminatory power in terms of sensibility and specificity were 42.1° for the US-MSA and 39.1° for the MRI-MSA. The performance of MRI-MSA in predicting postnatal survival was close to that of US-MSA in terms of sensitivity (62.5 versus 50.0%), specificity (80.9 versus 90.5%), positive predictive value (55.6 versus 66.7%), negative predictive value (85.0 versus 82.6%) and accuracy (75.9 versus 79.3%). There was no statistically significant difference between the two modalities ( p  > .05 for all)., Conclusions: MRI and US can be interchangeably used for the assessment of MSA in prenatally diagnosed isolated left CDH. Moreover, MSA measured by both US and MRI was confirmed to be correlated with perinatal outcome in terms of survival.

Aim of the study: Lymphatic malformations (LMs) are rare entities, sometimes difficult to treat, that may be life-threatening when intricately connected to airway structures. Invasive treatments are occasionally required, with sclerotherapy considered the treatment of choice and surgery as a second-line approach. The aim of the present study was to evaluate our multidisciplinary team experience in treating newborns affected by LMs requiring operative management, while defining early outcomes. Methods: Retrospective review of all consecutive patients admitted for LMs requiring operative management between January 2000 and January 2019. Patients were mainly characterized based on anatomical district of the LM (and further stratified based on the development of respiratory distress), need for tracheostomy, number of sclerotherapies, indication for surgery, and residual disease beyond the 1st year. Morbidity and mortality were also evaluated. Fisher exact test and Mann-Whitney test were used as appropriate. Statistical significance was set at p < 0.05. Results: Fifty-seven patients were included in the study, 36 with cervicofacial and/or mediastinal LMs and 21 with LMs of other anatomical districts. Due to the risk of developing respiratory distress at birth, patients with cervicofacial and/or mediastinal LMs were divided into two groups (8/36 group A vs. 28/36 group B). Group A patients are at higher risk for tracheostomy (7/8 group A vs. 1/28 group B, p = 0.0001) and more often require surgical reduction of the residual lymphatic abnormality (5/8 group A vs. 4/28 group B, p = 0.013). They also require sclerotherapies more often, but the difference is not statistically significant (8/8 group A vs. 19/28 group B, p = 0.15). Patients with cervicofacial/mediastinal LMs frequently suffer from persistent residual disease beyond the 1st year of life, significantly more often in group A (7/8 group A vs. 12/28 group B, p = 0.043). Conclusion: LMs are rare conditions with potential life-threatening behavior. Their intrinsic clinical complexity requires a multidisciplinary approach to the affected patients. Planning a long-term follow-up is essential because of the late-term problems those patients may experience., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Scuglia, Conforti, Valfrè, Totonelli, Iacusso, Iacobelli, Meucci, Viggiano, Fusaro, Diociaiuti, Morini, El Hachem and Bagolan.)

Background: Late-presenting congenital diaphragmatic hernia (L-CDH) diagnosis is a challenge for its clinical various presentation. In literature radiologic misdiagnosis is up to 62%. The aim of this study is analyze clinical findings about our cases series in a particular setting of Pediatric Emergency Department (PED) and review of literature., Methods: We retrospectively analyzed the medical records of children older than 1 month, operated for L-CDH from November 2009 to December 2019 presented to PED, with a total of 20 children (5 Morgagni and 15 Bochdaleck)., Results: The median age at diagnosis was 1,48 years. 50% patients had a history of previouses symtptoms with a mean duration of 243,75 days. In 30 % of cases associated anomalies were presented, mainly cardiovascular. 25% of patients had undergone to chest X-ray in past history with misdiagnosis of pneumonia, microganulia and broncovascular thickening. Misdiagnosis are manly among left sided Bochdaleck hernia. Respiratory distress alone or associated with vomiting is commonest acute symptom refered to PED. Respiratory symptoms were more common in younger children, while gastrointestinal ones in older children (not statistically differences p=0,8769). Post-operative recurrence were frequent only in cases of right sided CDH and comparing with left ones, there is a difference statistically significant (p=0.0476)., Conclusions: L-CDH should be suspected in cases of unexplained acute respiratory distress and vomiting, particulary when children are affected to associate cardiovascular malformation. In cases of patients with long previouses symptoms and various accesses to PED is important to emphasize history of respiratory distress, dysphagia and failure to thrive and should be considered a chest X-ray.

Background: Surgical treatment of Hirschsprung disease (HD) evolved in the last decades with the introduction of new innovative minimally invasive techniques. The aim of present study is to compare the results from two centers, applying similar minimal access approaches, total transanal endorectal pull-through (TEPT) and laparoscopic-assisted transanal pull-through (LA-TAPT). Materials and Methods: Data of all patients admitted between January 2011 and December 2016 in two Italian referral Hospitals for HD were retrospectively collected and analyzed. Exclusion criteria were as follows: redo procedure, patients with total colonic aganglionosis (ileostomy), patients lost at follow-up, or missing data. Patients who underwent TEPT and LA-TAPT were compared for gestational age, birth weight, age and weight at surgery, associated malformation, genetic syndrome, length of hospital stay, and early postoperative complications (within 30 days). Statistical analysis: Fisher's test and Mann-Whitney test; statistical significance set at P  < .05. Results: None of the patients who underwent TEPT required laparotomy or laparoscopic assistance. Patients who underwent TEPT had lower age ( P  = .001), lower body weight ( P  < .0001), a significant higher rate of associated congenital heart disease ( P  = .006), and longer postoperative stay. In addition, the prevalence of perianal dermatitis was higher in TEPT patients (17/61 [28%] versus 2/46 [4%], P  = .001). The two groups were similar in terms of postoperative enterocolitis, redo surgery, anastomotic stenosis, and other infective complications. Conclusion: Both minimally invasive techniques allow surgical advantages and outcomes; TEPT avoids pneumoperitoneum and the transperitoneal approach, with no need for laparoscopic instrumentation. TEPT group had longer postoperative stay, probably due to the higher prevalence of associated cardiac anomalies, and higher prevalence of perianal dermatitis, probably due to the lower age at operation.

"Apple peel" intestinal atresia is a rare form of small bowel atresia, in which the duodenum or proximal jejunum ends in a blind pouch and the distal small bowel wraps around its vascular supply, in a spiral resembling an apple peel. The etiology of "apple peel" intestinal atresia is presently unknown, although a congenital or acquired intestinal vascular accident can have a role in the pathogenesis. We report a family in which the proband affected by "apple peel" intestinal atresia, had a sibling (an interrupted pregnancy), and a paternal cousin with cardiac left-sided obstructive lesions. Molecular testing for NOTCH1 gene was carried out in the proband, because pathogenic mutations in this gene have been associated with familial and sporadic cardiac left-sided obstructive lesions and vascular anomalies, both isolated or within the spectrum of the Adams-Oliver syndrome (AOS). The heterozygous c.2734C>T (p.Arg912Trp) NOTCH1 variant was found in the proband with "apple peel" intestinal atresia and in his father. This result argues for a possible causal relationship between NOTCH1 gene mutations and some forms of intestinal defects, through a vascular mechanism. The spectrum of NOTCH1-associated malformations is widened. Genetic counseling should take into account intrafamilial variable clinical expression and incomplete penetrance., (© 2019 Wiley Periodicals, Inc.)

Importance: Presence of laryngotracheal abnormalities is associated with increased morbidity and higher mortality rate in esophageal atresia patients. Objective: Determine the prevalence of laryngotracheal abnormalities (LTA) in a prospectively collected cohort of patients treated for esophageal atresia and/or tracheoesophageal fistula (EA/TEF). Analysis of the impact of those airway anomalies in early post-operative outcomes was performed. Patients and Methods: This was a review of a prospectively collected database, including patients from January 2008 to December 2017. Patients enrolled in the present study were treated in a high-volume referral center. Present study included all newborn-infants consecutively treated for EA/TEF. All patients were evaluated by flexible laryngotracheoscopy performed under local anesthesia in spontaneous breathing. In case of airway malformation suspected during flexible endoscopy, a rigid endoscopy was performed to complete airway assessment. If post-operative respiratory symptoms (noisy breathing, respiratory difficulty, failure to extubate, or difficulty feeding) were noted, a second laryngotracheoscopy was performed. Primary study outcome was to evaluate the prevalence of LTA in EA/TEF infants, characterizing of LTA, and their impact on early post-operative outcomes. Those primary study outcomes were planned before data collection began. Results: During the study period 207 patients with EA/TEF were treated. LTA had a period prevalence of 40.1% (83/207). Although no differences were recorded in terms of demographics and clinical presentation, LTA+ infants more frequently required tracheostomy (12/52, 23% vs. 0/124, 0%; p 0.0001) and were at increased risk of death (12/83, 14% vs. 5/124, 4%; p 0.009) in comparison with EA/TEF without LTA. Conclusions: Present data suggest a high prevalence of congenital LTA in patients affected by EA. Most of the abnormalities are congenital and a high proportion of patients with LTA require a tracheostomy. Mortality significantly correlates with the presence of LTA. Systematic airway endoscopic preoperative evaluation has to be pushed forward to minimize LTA-related morbidity and mortality.

Congenital diaphragmatic hernia (CDH) survivors present long-term morbidities in several systems, including the neurodevelopmental, gastrointestinal, pulmonary, and musculoskeletal ones, and CDH long-term sequelae are increasingly being recognized. Due to high co-morbidity, health related quality of life in a significant proportion of CDH patients might be compromised. As a consequence of consciousness on the long-term sequelae of CDH survivors, and their consequences for life, several follow-up programs were brought to life worldwide. In this review, we will summarize the long-term sequelae of CDH survivors, the impact of new treatments, and analyze the consistency of follow-up programs., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Objective  To evaluate if in high-risk non-extracorporeal membrane oxygenation (ECMO)-treated congenital diaphragmatic hernia (CDH) survivors, ventilatory time (VT) is correlated to and can be used as clinical marker of neurodevelopmental delay at 2 years of age. Study Design  Cohort study was conducted between 2008 and 2012. Mental, motor, and language development were assessed by the Bayley Scales of Infant and Toddler Development III. The correlation between VT and neurodevelopmental outcome (NDO) was analyzed using Pearson's test. Receiver operating characteristic (ROC) analysis was performed to determine the accuracy and best cutoff value of VT to predict the risk of neurodevelopmental delay. Statistical significance was set at p  < 0.05. Results  A total of 49 patients form the subject of this study. VT during first admission was inversely correlated with cognitive ( r  = -0.4116; p  = 0.0033), motor ( r  = -0.4241; p  = 0.0024), and language development ( r  = -0.3564; p  = 0.0119). Using ROC curve analysis, VT was a significant predictor for neurodevelopmental delay in the cognitive (area under the curve [AUC]: 0.864, sensitivity: 100; specificity: 66.67; p  < 0.0001) and motor (AUC: 0.902; sensitivity: 100; specificity: 73.17; p  < 0.0001) scales, but not in the language scale. The best cutoff value for both scales was 9 days. Conclusion  Within a population of high-risk non-ECMO-treated CDH survivors, VT appears to retain its validity as a clinical marker of adverse NDO in cognitive and motor domains., (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)

Introduction: Patients operated on for congenital pulmonary malformations (CPM) have excellent survival rates, but little is known about long-term morbidity. Our aim is to report the sequelae in patients operated on for CPM in infancy and to define factors that may influence their outcome., Methods: All patients operated on for major congenital anomalies are followed in a dedicated outpatient program and evaluated at 6, 24, and 48 months of life (corrected for gestational age) and at school age at 4, 6, 8, and 12 years of life. The data are prospectively collected. Patients operated on for CPM and enrolled in the follow-up clinic between January 2004 and December 2010 are compared with a control group of term infants operated on for inguinal hernia, without other major congenital or acquired abnormalities. The two groups were compared for auxological, respiratory, and orthopedic outcome., Results: In the study period, 76 consecutive patients with CPM attended our dedicated follow-up clinic. Eight non-operated patients were excluded from the study. Age at follow-up was 82.0 (56.1-103.7) months in CPM patients and 83.5 (75.2-90.4) months in controls (P = 0.79). Fifty-three patients with CPM (78%) had one or more clinical or radiological abnormality versus six (16%) control patients (OR [95%CI] 16.5 [5.8-47.2]; P < 0.0001)., Conclusions: Over 50% of patients with CPM present long-term sequelae, regardless type of malformation. Therefore, long-term follow-up of patients operated on for CPM is recommended. Further studies are needed to define if, in asymptomatic patients, surgery may modify the natural history of CPM. Pediatr Pulmonol. 2016;51:1367-1372. © 2016 Wiley Periodicals, Inc., (© 2016 Wiley Periodicals, Inc.)

Aim: Esophageal atresia (EA) and tracheoesophageal fistula (TEF) consist of a spectrum of rare congenital abnormalities. Although EA surgical treatment is well established, the outcome of EA with proximal fistula (type B and D EA) or isolated H-type fistula (type E EA) is poorly explored. These forms of EA shared a common surgical step: the need of a cervical approach to close the fistula. Therefore, the aim of present study is to evaluate postoperative outcomes of patients treated for Gross type B-D and E EA, on regards of their cervical surgery., Materials and Methods: A retrospective case series analysis of all patients affected by type B-D and E EA, and admitted to our tertiary care center between January 2003 and December 2014 was performed. All patients underwent preoperative flexible laryngo-tracheobronchoscopy (LTBS) as part of our standardized preoperative diagnostic assessment to define the diagnosis, evaluate preoperative vocal cord motility and to cannulate the fistula when required. Fistula closure was always performed through a right cervical access. Analysis of all cases and comparison between type B-D and E EA were performed. Mann-Whitney test, Chi-squared test and unpaired t test were used as appropriate; p<0.05 was considered significant., Results: During the study period, 180 EA newborns were treated. Proximal or isolated TEF was found in 18 patients (10%): 7 type B, 11 type E EA. Patients affected by type B and E EA/TEF frequently present associated major malformations (27%), and major cardiac abnormalities (44%). Major postoperative complications were: vocal cord paralysis (5 patients), bilateral in 2 infants requiring tracheostomy, cerebral ischemia (1 patient), and cardiac failure (1 patient)., Conclusion: Patients affected by type B and E EA have a high rate of associated abnormalities, and risk of possible sequelae. Postoperative complications are common, with possible transient vocal cord dismotility, but in some cases persistent paralysis may require tracheostomy. Therefore, both preoperative and postoperative LTBS is highly recommended to evaluate the presence of a proximal fistula, and vocal cord motility, even in asymptomatic patients, to rule out any possible intraoperative "surprise" and any vocal cord abnormality and to possibly define its pathogenesis (congenital vs. iatrogenic)., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Background: Near-infrared spectroscopy (NIRS) is a noninvasive technique for monitoring tissue oxygenation and perfusion. The aim of this study was to evaluate cerebral and splanchnic NIRS changes in CDH operated infants enrolled into the VICI trial and therefore randomized for ventilatory modalities., Materials and Methods: CDH newborns enrolled into the VICI trial (Netherlands Trial Register, NTR 1310) were randomized at birth for high-frequency oscillatory ventilation (HFOV) or conventional mechanical ventilation (CMV) according to the trial. Cerebral oxygenation (rSO2C) and splanchnic oxygenation (rSO2S) were obtained by NIRS (INVOS 5100; Somanetics, Troy, MI) before and after surgery. Variations in rSO2C and rSO2S were evaluated. Mann-Whitney test and one-way ANOVA were used as appropriate. p<0.05 was considered significant., Results: Thirteen VICI trial patients underwent surgical repair between March 2011 and December 2012, and were enrolled in the study. Seven patients were assigned to HFOV and six to CMV group respectively. During surgery, a significant reduction in rSO2C (p=0.0001) and rSO2S (p=0.005) were observed. HFOV patients experienced prolonged reduction in rSO2C value (p=0.003) while rSO2S did not vary between HFOV and CMV (p=0.94)., Conclusions: Surgical CDH repair was associated with decrease of cerebral and splanchnic oxygenation, regardless of ventilation. Patients ventilated by HFOV need a longer time interval to recovery normal rSO2C values, than those ventilated by CMV. This may be owing to a different impact of HFOV on patients' hemodynamic status with a higher impairment on total venous return and its negative consequences on cardiac output., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Gershoni-Baruch syndrome is an extremely rare malformation complex characterized by omphalocele, diaphragmatic hernia, radial ray defects, and cardiovascular abnormalities. Autosomal recessive inheritance was suggested. To date, academic literature described only seven patients fulfilling the diagnostic criteria for the condition. None survived the neonatal period. This study reports the first individual with Gershoni-Baruch syndrome surviving past early infancy., (© 2015 Wiley Periodicals, Inc.)

Background: Since mortality in congenital diaphragmatic hernia (CDH) is decreasing, morbidity such as neurodevelopmental outcome is becoming increasingly important., Objectives: We evaluated neurodevelopmental outcome in high-risk CDH patients treated according to the CDH EURO Consortium standardized treatment protocol., Methods: This observational, prospective cohort study was conducted in two European centers. Neurodevelopment of 88 patients (Rotterdam n = 49; Rome n = 39) was assessed at 12 and 24 months with the Bayley Scales of Infant Development (BSID)-II-NL (Rotterdam) or BSID-III (Rome). Data of the centers were analyzed separately., Results: Cognition was normal in 77.8% of children from Rotterdam and in 94.8% from Rome at 12 months, and in 70.7 and 97.4%, respectively, at 24 months. Motor function was normal in 64.3% from Rotterdam and in 81.6% from Rome at 12 months and in 45.7 and 89.8%, respectively, at 24 months. Longer length of hospital stay (LoS) was associated with worse cognitive outcome and motor function; LoS, low socioeconomic status, and ethnicity were associated with lower cognition., Conclusions: At 2 years, most CDH patients have normal cognition, but are at risk for motor function delay. Due to differences in outcomes between centers, careful interpretation is needed before conclusions can be drawn for other centers. Future multicenter collaboration should not only focus on standardization of postnatal care, but also on international standardization of follow-up to identify risk factors and thereby reduce morbidity., (© 2015 S. Karger AG, Basel.)

Purpose: Identify clinical and socio-demographic risk-factors affecting short-term neurodevelopmental outcome (NDO) in children operated on for abdominal and thoracic congenital anomalies (CA)., Methods: Prospective cohort observational study on newborns operated on for non-cardiac major CA. Evaluations were conducted at 6 and 12 months of age. Univariate linear regression and multivariate regression were conducted to analyze the impact on NDO of clinical and sociodemographic variables. Infants were evaluated with the Bayley Scales of Infant and Toddler Development-3rd Edition., Results: One-hundred-fifty-five children were enrolled. They were affected by the following anomalies: Esophageal Atresia (N=41), Congenital Diaphragmatic Hernia (N=42), Midgut Malformations (N=34), Abdominal Wall Defects (N=18), Colorectal Malformations (N=20). There were no statistically significant differences among the five groups of CA as to NDO. Variables which reached statistical significance at multivariate regression (p≤0.001) at 6 and 12 months as to cognitive and motor development were: ventilatory time, associated malformations, medical appliances for feeding, number of surgery and length of hospital stay., Conclusions: On the average, children born with CA show a NDO within normal range. The identified risk-factors could prompt health care professionals to conduct a close surveillance on most vulnerable children giving them the best chance to reach their full potential., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Background: Neurodevelopmental impairment is one of the most significant morbidities among CDH survivors., Purpose: Assess correlation between ventilatory time (VT) and short-term neurodevelopmental outcome in congenital diaphragmatic hernia (CDH) survivors., Methods: A prospective longitudinal study was conducted between 2008 and 2012. Assessment of mental and motor development was performed at 6 and 12months by Bayley Scales of Infant and Toddler Development - 3rd Edition (BSID-III). ROC curve analysis was used., Results: Forty-two subjects were included in the study. There was a significant inverse correlation between neurodevelopment at 6 and 12months and VT during first admission (p<0.0001). VT predicting the risk of moderate (BSID-III <85) and severe (BSID-III <70) delay was 13 and 28days, respectively (area under the curve - delay <85: 6months mental 0.943 and motor 0.992; 12months mental 0.877 and motor 0.925; delay <70: 6months mental 0.934 and motor 0.943; 12months mental 0.906 and motor 0.975; p<0.0001)., Conclusions: VT should be considered an important marker to identify subjects at risk for short-term neurodevelopmental delay in CDH survivors. Early follow-up intervention therapy should be activated in every baby with a history exceeding 13days of VT., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Objective: To describe short-term neurodevelopmental outcome of infants operated on for congenital anomalies (CA) and assess the impact of type of CA on the outcome., Study Design: From 2008 to 2010 newborns operated on for CA were enrolled in a cross-sectional follow-up study including three distinct groups: infants of 6 months (group A), infants of 12 months (group B), and children of 24 months (group C). Each group was divided into five subgroups: (1) esophageal atresia; (2) congenital diaphragmatic hernia; (3) midgut malformations; (4) abdominal wall defects; (5) colorectal malformations. Each group of patients underwent a neurodevelopmental evaluation with Bayley III., Results: In all, 150, 156, and 84 babies were enrolled in groups A, B, and C, respectively. Mean (standard deviation) Mental Scale score was 94.65 (8.75), 98.76 (11.03), and 100.60 (12.04) in groups A, B, and C. Mean (standard deviation) Motor Scale score was 96.89 (11.62), 99.23 (14.83), and 103.60 (12.90) in groups A, B, and C. No significant differences were found among the five subgroups considered., Conclusion: Regardless of type of malformation, short-term neurodevelopmental outcome of children with gastrointestinal anomalies including diaphragmatic hernia falls within normal range, suggesting that neither being born with a CA nor its type is per se a risk factor for neurodevelopmental delay., (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)

Purpose: The aim of our study was to elucidate if the defect size reflects the magnitude of the developmental defect in patients with CDH., Methods: All patients recorded in the CDH Study Group registry between January 1, 2007, and December 31, 2010, and with defect classification were included in the study. They were divided according to defect size (A-D) and compared for: gestational age (GA), birth weight (BW), number of abnormal organ systems, prevalence of associated anomalies, cardiovascular malformations (CVM), chromosomal anomalies, liver in the chest, and hernia sac., Results: A total of 1350 of 1778 patients had defect classification: 173 A, 557 B, 438 C, and 182 D. Mortality rate was 0.6%, 5.3%, 22.6%, and 45.6% in group A, B, C, and D, respectively, (p<0.0001; p for trend <0.0001). GA, BW, prevalence of associated anomalies, particularly CVM, number of abnormal organ systems, and prevalence of sac were significantly different between the groups, with a significant reduction of GA, BW, and prevalence of sac. There was an increase in prevalence of associated anomalies, liver in the chest, and number of abnormal systems as the defect size increased., Conclusion: Defect size is directly correlated with mortality rate, prevalence of other anomalies (particularly CVM), and number of abnormal systems, and inversely with GA, BW, and prevalence of hernia sac. The defect size may be a marker for the magnitude of developmental abnormality, thereby explaining its relationship with the outcome., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Congenital chylous ascites is a rare entity, and surgical treatment is confined to selected intractable cases. We report 2 cases of refractory congenital chylous ascites successfully treated with preoperative administration of lipophilic dye (Sudan III) followed by abdominal systematic surgical exploration, cauterization, and fibrin glue application., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Background/purpose: The increased survival rate reached in infants with congenital diaphragmatic hernia (CDH) has shown a concomitant increase in late morbidity. A recent report from CDH Study Group showed that dimension of diaphragmatic defect is the only independent risk factor of mortality. However, the influence of defect size on late morbidity is still controversial. The aim of the study was to evaluate the influence of patch repair (proxy of diaphragmatic defects size) on midterm morbidity., Methods: All high-risk (prenatal diagnosis and/or respiratory symptoms within 6 hours of life) CDH survivors treated at our institution from 2004 to 2008 were followed up in a multidisciplinary outpatient clinic as part of a longitudinal prospective study. Auxological, gastroesophageal, pulmonary, and orthopedic evaluations were performed at 6, 12, and 24 months of age. Patient outcomes were compared with respect to +/- patch repair., Results: Of 70 survivors, 61 (87%) were enrolled and prospectively evaluated in follow-up. Poorer auxological outcome, increased rate of gastroesophageal reflux, and altered pulmonary function test were observed during follow-up., Conclusions: Patch repair correlates with higher pulmonary, auxological, and gastroesophageal morbidity without increasing chest wall deformities at long-term follow-up., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Aim: The best treatment of non-palpable testes is currently argument of debate. The aim of present study was to describe authors' experience in surgical treatment with inguinal standard orchidopexy of non-palpable testes., Methods: In the last 17 years we have treated 2002 cryptorchid testes, among these 327 (16.33%) were non palpable. Age and distribution of cryptorchid testes was: 0-1 y (165 NPT), 1-2 y (84 NPT), 2-5 y (43 NPT), 5-10 y (16 NPT) and >10 y (19 NPT)., Results: Non-palpable testes were diagnosed and treated earlier (76.14% in the first two years). At surgical examination 204 (62.38%) were intrabdominal, 80 (24.46%) were atrophic and 43 (13.14%) vanishing. Among atrophic testes 54 (67.5%) were intracanicular, 21 (26.5%) were at the external inguinal ring, 4 (5%) were intrabdominal and 1 (1.25%) ectopic; among vanishing testes 22 (51.16%) were intrabdominal, 14 (32.55%) intracanicular and 7 (16.27%) at the external ring of inguinal canal., Conclusion: Atrophic and vanishing testes were in intrabdominal location in 26 cases: only in these cases (7.95% of all non palpable testes) laparoscopy should have avoided inguinal surgery. Inguinal standard orchiopexy performed as day-surgery with general anaesthesia associated to caudal analgesia should be considered effective and less invasive than laparoscopic approach.

An extremely rare case of type A esophageal atresia is reported. The baby girl patient born spontaneously after a 38-week pregnancy, was diagnosed prenatally with suspected type A esophageal atresia. Diagnosis was confirmed at birth by chest and abdominal X-ray. As per protocol, a naso-esophageal tube was positioned in aspiration and a Stamm gastrostomy made for nutritional purposes. Evaluation of the distance between blind pouches at one month of life showed they were overlapping. At intervention the pouches were found to be united by a fibrous bridge about 1.5 cm long. Anastomosis was carried out with ease. The postoperative course was trouble-free. On the X day the baby girl was being fed completely per os. Histolo-gical examination of the fibrous residue excluded the presence of a mucosa-lined lumen. X-ray examination of the esophageal-gastric passage, one month after the operation, showed the smooth transit of the contrast medium and an adequate anastomotic lumen. At follow-up, at the age of 9 months, the baby was growing normally and being fed per os with a diet appropriate for her age; no oesophageal dilatation was necessary. Type A oesophageal atresias are long-gap forms: they are treated with direct anastomosis after the blind pouches come together spontaneously in the first four months of life. Stress is laid on the rarity of the case. According to Kluth's classification of 1976, this form was described by Mason in 1855 and Jlott in 1905 on the basis of autopsy findings. A review of the literature did not show any similar clinical cases.

Ovarian cysts are common in peripheral precocious puberty in McCune-Albright syndrome (MAS). The clinical course of these cysts is unpredictable due to episodes of hyperestrogenism typical of MAS ovarian hyperfunction. In persistent and recurrent large ovarian cysts with sustained estrogen hypersecretion and relevant clinical disturbances (increased linear growth and bone age maturation, vaginal bleeding and psychological disturbances) treatment is mandatory. Experimental courses of estrogen-blocking drugs may have insufficient or nil therapeutic effects. In these cases and when molecular analysis is required to obtain MAS diagnosis as in isolated peripheral precocious puberty, surgery is the option. Laparoscopy minimizes surgical aggression and facilitates obtaining tissue samples for molecular analysis, and sometimes relieves hyperestrogenism with the excision of hyperactive ovarian areas. It can be conducted with trans-umbilical laparoscopic ovarian cystectomy (TULOC) before 3 years of age and with traditional techniques afterwards.