Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.

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.

Respiratory and Musculoskeletal Long-Term Outcomes after Surgical Resection of Congenital Cystic Adenomatoid Malformation of the Lung in Newborns, Infants, and Toddlers.

Introduction:  The long-term outcomes of children who underwent surgery for congenital cystic adenomatoid malformation of the lung (CCAML) are not well documented, particularly regarding orthopaedic and respiratory follow-up (FU). The aim of this study was to assess the long-term pulmonary and orthopaedic outcomes of surgically treated CCAML in newborns, infants, and toddlers.

Materials And Methods:  Retrospective examination of prospectively recorded data of consecutive patients with CCAML who underwent surgery at our tertiary referral institution from January 2000 to December 2015 (newborns, infants, and toddlers).

Brain cortical assessment by MRI in fetuses with left congenital diaphragmatic hernia.

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.

Unsolved problems in CDH follow-up.

In patients affected by CDH, survival beyond the neonatal period continues to increase thanks to technological and pharmacological improvements. Conversely, patients, families and caregivers are more and more frequently facing "new" complex late comorbidities, including chronic pulmonary and cardiac dysfunctions, neurodevelopmental challenges, and specific nutritional requirements, that often require ongoing long-term medical or surgical care. Therefore, late morbidity is now a key focus in clinical care of CDH.

Magnamosis for long gap esophageal atresia: Minimally invasive "fatal attraction".

Background: Aim of study is to report our preliminary experience with magnetic anastomosis (magnamosis) treating long-gap esophageal atresia (LGEA), the most challenging condition of esophageal atresia continuum. Magnamosis has been reported in 20 patients worldwide as an innovative and marginally invasive option.

Methods: Prospective evaluation of all LGEA patients treated with magnamosis was performed (study registration number: 2535/2021).

Growth and morbidity in infants with Congenital Diaphragmatic Hernia according to initial lung volume: A pilot study.

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.

Late congenital diaphragmatic hernia: is a significant challenge? A case series and review from literature.

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.

Eosinophilic esophagitis in esophageal atresia: Tertiary care experience of a "selective" approach for biopsy sampling.

Background: A high prevalence (9.5-30%) of eosinophilic esophagitis (EoE) in patients with esophageal atresia (EA) has been reported. The application of the EoE criteria to EA patients might be problematic.

Comparison of mediastinal shift angles obtained with ultrasound and magnetic resonance imaging in fetuses with isolated left sided congenital diaphragmatic hernia.

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.

Minimally Invasive Techniques for Hirschsprung Disease.

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). Data of all patients admitted between January 2011 and December 2016 in two Italian referral Hospitals for HD were retrospectively collected and analyzed.

Laryngotracheal Abnormalities in Esophageal Atresia Patients: A Hidden Entity.

Presence of laryngotracheal abnormalities is associated with increased morbidity and higher mortality rate in esophageal atresia patients. 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.

Ultrasonographic assessment of mediastinal shift angle (MSA) in isolated left congenital diaphragmatic hernia for the prediction of postnatal survival.

To quantify mediastinal shift in isolated congenital diaphragmatic hernia (CDH), by the introduction of a new ultrasonographic (US) marker, defined as mediastinal shift angle (MSA) and to evaluate its ability in predicting postnatal survival at discharge. Twenty-four consecutive fetuses from singleton pregnancies with isolated left-sided CDH were included in the study group and then subdivided into group A (16 survivors) and group B (8 nonsurvivors). The study group was matched with a control group of 95 fetuses from singleton pregnancies free from structural and/or chromosomal anomalies.

Long-term morbidity of congenital diaphragmatic hernia: A plea for standardization.

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.

Respiratory problems in children with esophageal atresia and tracheoesophageal fistula.

Background: Children with congenital esophageal atresia (EA) and tracheoesophageal fistula (TEF) have chronic respiratory symptoms including recurrent pneumonia, wheezing and persistent cough. The aim of this study is to describe the clinical findings of a large group of children with EA and TEF surgically corrected and the instrumental investigation to which they have undergone in order to better understand the patient's needs and harmonize the care.

Methods: A retrospective data collection was performed on 105 children with EA and TEF followed at Department of Pediatric Medicine of Bambino Gesù Children's Hospital (Rome, Italy) between 2010 and 2015.

Does Ventilatory Time Retain Its Validity in Predicting Neurodevelopmental Outcome at Two Years of Age in High-Risk Congenital Diaphragmatic Hernia Survivors?

 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.  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.

Cervical repair of congenital tracheoesophageal fistula: Complications lurking!

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.

Outcome of infants operated on for congenital pulmonary malformations.

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.

Gershoni-Baruch syndrome: First report of a surviving child.

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.

Neurodevelopmental Outcome in High-Risk Congenital Diaphragmatic Hernia Patients: An Appeal for International Standardization.

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.

Effects of ventilation modalities on near-infrared spectroscopy in surgically corrected CDH infants.

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.

Feeding and Swallowing Disorders in Esophageal Atresia Patients: A Review of a Critical Issue.

Feeding and swallowing disorders are commonly seen in clinical practice in infants and children treated for esophageal atresia with or without tracheoesophageal fistula. Nevertheless, only few authors have addressed these issues. This review aims to describe the feeding and swallowing disorders encountered, focusing on pathophysiology, normal development of swallowing and feeding abilities, and possible rehabilitation therapies to prevent or correct these disorders.