Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.

Background: Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inborn error of mitochondrial fatty acid metabolism with autosomal recessive pattern of inheritance. Its phenotype is highly variable (neonatal, infantile, and adult onset) on the base of mutations of the CPT II gene. In affected subjects, long-chain acylcarnitines cannot be subdivided into carnitine and acyl-CoA, leading to their toxic accumulation in different organs.

Quality of life improving after propranolol treatment in patients with Infantile Hemangiomas.

Infantile hemangiomas may affect the quality of life (QoL) of patients and their family members, as anxiety and worry may commonly occur in parents, also linked to the social adversion they experience. We underline the beneficial impact of oral propranolol therapy on QoL of patients with infantile hemangiomas (IH) and of their relatives. A specific questionnaire measuring QoL was administered to parents of IH patients at beginning and end of a treatment with oral propranolol.

Analysis of risk and prognostic factors in a population of pediatric patients hospitalized for acute malnutrition at the Chiulo hospital, Angola.

Background: Malnutrition is a multifactorial pathology in which genetic, epigenetic, cultural, environmental, socio-economic factors interact with each other. The impact that this disease has on the health of children worldwide is dramatic. Severe acute malnutrition in particular is a disease affecting nearly 20 million preschool children worldwide, most of them in Africa and South East Asia.

Survey of PDA management in very low birth weight infants across Italy.

Background: The optimal management of PDA in very low birth weight (VLBW) infants is still controversial. Aim of our study was to investigate the management of PDA in the Italian neonatal intensive care units (NICU).

Methods: We conducted an on-line survey study from June to September 2017.

Neonatologist performed echocardiography (NPE) in Italian neonatal intensive care units: a national survey.

Background: Neonatologist performed echocardiography (NPE) has increasingly been used to assess the hemodynamic status in neonates. Aim of this survey was to investigate the utilization of NPE in Italian neonatal intensive care units (NICUs).

Methods: We conducted an on-line survey from June to September 2017.

Vitamin D deficiency in a population of migrant children: an Italian retrospective cross-sectional multicentric study.

Background: Vitamin D is a hot topic in the scientific community. Its deficiency and the implications for the children's health became increasingly discussed during the last 20 years. The main aim of this retrospective study was to determinate the prevalence of vitamin D metabolism disorders in a population of adopted children and their risk factors.

Intestinal Involvement in Kawasaki Disease.

Objectives: To describe a case of Kawasaki disease with intestinal involvement and to analyze other published reports to define clinical characteristics, diagnostic issues, and therapeutic approaches of gastrointestinal involvement in Kawasaki disease.

Study Design: A computerized search without language restriction was conducted using PubMed and SCOPUS. An article was considered eligible for inclusion in the systematic review if it reported data on patient(s) with intestinal involvement in Kawasaki disease.

Etiological heterogeneity and clinical variability in newborns with esophageal atresia.

Background: The aim of this study was to define different characteristics of infants with esophageal atresia and correlations with neonatal level of care, morbidity and mortality occurring during hospital stay.

Methods: Charts of all newborns with esophageal atresia (EA) admitted to our University NICU between January 2003 and November 2016 were reviewed and subdivided in four groups related to different clinical presentations; EA as an isolated form (A), with a concomitant single malformation (B), as VACTERL association (C), and in the context of a syndrome or an entity of multiple congenital anomalies (D).

Results: We recruited 67 infants with EA (with or without tracheoesophageal fistula), distributed in groups as follows: A 31.

Italian multicentre study found infectious and vaccine-preventable diseases in children adopted from Africa and recommends prompt medical screening.

Aim: This study evaluated the prevalence of infectious diseases and immunisation status of children adopted from Africa.

Methods: We studied 762 African children referred to 11 Italian paediatric centres in 2009-2015. Clinical and laboratory data were retrospectively collected and analysed.

A Case of Cardiomyopathy Due to Premature Ductus Arteriosus Closure: The Flip Side of Paracetamol.

Paracetamol (acetaminophen or N-acetyl-p-aminophenol) is considered a safe analgesic and antipyretic nonsteroidal antiinflammatory drug commonly used during pediatric ages and during pregnancy. We report on a term neonate with closed ductus arteriosus, severe cardiomyopathy, right ventricular dysfunction, and functional stenosis of pulmonary arteries at birth after maternal self-medication with paracetamol and consumption of polyphenol-rich foods in late pregnancy. This drug, especially when associated with other vasoconstrictors (such as polyphenols), interferes with prostaglandin metabolism, which seriously accentuates the intrauterine ductus arteriosus constriction and leads to pharmacologic adverse events.

Transitional hemodynamics in infants of diabetic mothers by targeted neonatal echocardiography, electrocardiography and peripheral flow study.

Objective: Metabolic alterations of intrauterine environment in diabetes mellitus (DM) lead to fetal cardiac dysfunctions that can persist after birth. The aim of the study was to assess the cardiovascular adaptation in infants born to diabetic mothers (IDM) with different degrees of glycometabolic control, in relation to revised guidelines for diagnosis of DM and quality improvements in neonatal care.

Materials And Methods: An observational case-control study was conducted on IDM with gestational, type 1 and type 2 DM.

Perfusion Index and Pulse Oximetry Screening for Congenital Heart Defects.

Objective: To evaluate the efficacy of combined pulse oximetry (POX) and perfusion index (PI) neonatal screening for severe congenital heart defects (sCHD) and assess different impacts of screening in tertiary and nontertiary hospitals.

Study Design: A multicenter, prospective study in 10 tertiary and 6 nontertiary maternity hospitals. A total of 42 169 asymptomatic newborns from among 50 244 neonates were screened; exclusion criteria were antenatal sCHD diagnosis, postnatal clinically suspected sCHD, and neonatal intensive care unit admission.

Congenital cytomegalovirus related intestinal malrotation: a case report.

Background: Cytomegalovirus is the most common cause of congenital infection in the developed countries. Gastrointestinal involvement has been extensively described in both adult and paediatric immunocompromised patients but it is infrequent in congenital or perinatal CMV infection.

Case Presentation: We report on a case of coexistent congenital Cytomegalovirus infection with intestinal malrotation and positive intestinal Cytomegalovirus biopsy.

Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study.

Background: Congenital gastrointestinal system malformations/abdominal wall defects (GISM) may appear as isolated defects (single or complex), or in association with multiple malformations. The high incidence of association of GISM and congenital heart defects (CHD) in patients with syndromes and malformative sequences is known, but less expected is the association of apparently isolated single GISM and CHD. The aim of this study was to investigate the frequency of CHD in newborns with isolated GISM, and the possibility to modify the diagnostic-therapeutic approach just before the onset of cardiac symptoms or complications.

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

Background: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies.

Methods: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL anomalies (VACTERL-type) and non tipical VACTERL anomalies (non-VACTERL-type).

Predictive factors of abdominal compartment syndrome in neonatal age.

In the pediatric population, abdominal compartment syndrome (ACS) is a known complication of abdominal wall defect repair. However, there are only few reports on ACS in newborns and only a proposal of critical intra-abdominal pressure value (IAP) in term newborns, absent in preterm newborns. Although the prevalent clinical sign is tense abdominal distension, it may be difficult to distinguish ACS from pathologies that will not require decompression.

Transient hepatic nodular lesions associated with patent ductus venosus in preterm infants.

We report on two cases of low-birth-weight preterm infants with patent ductus venosus associated with hepatic hypoechoic lesions of the fourth segment in an otherwise normal liver. Although tumorlike hepatic lesions have been previously reported in association with portosystemic shunts in children and adults, they were never described in preterm infants during physiological patency of ductus venosus. In our patients, hepatic lesions disappeared shortly after the spontaneous ductus closure.

Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q.

We report a newborn girl with a de novo terminal 4q deletion (q31.3 --> qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load.