A5015268527- Neonatal Respiratory Health Research
- Ultrasound in Clinical Applications
- Congenital Diaphragmatic Hernia Studies
- Respiratory viral infections research
- Blood Coagulation and Thrombosis Mechanisms
- Pleural and Pulmonary Diseases
- Moyamoya disease diagnosis and treatment
- Cardiac Arrest and Resuscitation
- Neonatal and fetal brain pathology
- Congenital heart defects research
- Vascular Malformations Diagnosis and Treatment
- Kawasaki Disease and Coronary Complications
- Connective tissue disorders research
- Pediatric Hepatobiliary Diseases and Treatments
- Viral gastroenteritis research and epidemiology
- Cellular transport and secretion
- Gallbladder and Bile Duct Disorders
- Viral Infections and Immunology Research
- Hemophilia Treatment and Research
- Autoimmune and Inflammatory Disorders Research
- Inflammasome and immune disorders
- Metalloenzymes and iron-sulfur proteins
- Congenital Anomalies and Fetal Surgery
- Cerebrovascular and genetic disorders
- Myasthenia Gravis and Thymoma
Bambino Gesù Children's Hospital
2022-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2023
Sapienza University of Rome
2015-2022
Introduction The diagnosis of biliary atresia (BA) remains challenging, and there is still uncertainty regarding the optimal time to perform a Kasai portoenterostomy (KPE). Little known about difficulties in outcomes BA preterm infants (PBA). This study, which represents first Italian report with BA, aims describe single-center experience newborns. Methods We retrospectively reviewed all consecutively diagnosed who underwent procedure at Bambino Gesù Children’s Hospital between January 1998...
Abstract TBX4 gene, located on human chromosome 17q23.2, encodes for T-Box Transcription Factor 4, a transcription factor that belongs to the T-box gene family and it is involved in regulation of some embryonic developmental processes, with significant impact respiratory skeletal illnesses. Herein, we present case female neonate persistent pulmonary hypertension (PH) who underwent extracorporeal membrane oxygenation (ECMO) first day life then resulted have novel variant identified by...
Introduction: The use of a lung ultrasound (LUS) score has been described in the early phases neonatal respiratory distress syndrome; however, there is still no data regarding application LUS to neonates with congenital diaphragmatic hernia (CDH). objective this observational cross-sectional study was explore, for first time, postnatal changes patterns CDH, creation new specific CDH-LUS score. Methods: We included all consecutive prenatal diagnosis CDH admitted our Neonatal Intensive Care...
Intracranial hemorrhage may represent a complication of the perinatal period that affects neonatal morbidity and mortality. Very poor data exist about possible association between mutations type IV collagen a1 chain ( COL4A1 ) gene development intracranial hemorrhage, only sporadic reports focus on intracerebral bleedings already developing in utero or infants with such mutation. This study presents case series term neonates affected by no apparent risk factors for this condition, who were...
Despite the latest advances in prenatal diagnosis and postnatal embolization procedures, intracranial arteriovenous shunts (AVSs) are still associated with high mortality morbidity rates. Our aim was to evaluate presentation clinical course, neurodevelopmental outcome, genetic findings of neonates AVSs.In this retrospective observational study, medical records cerebral AVSs admitted our hospital from January 2020 July 2022 were revised. In particular, we evaluated neuroimaging...
Abstract Objectives Seizures (SZ) are one of the main complications occurring in infants undergoing therapeutic hypothermia (TH) due to perinatal asphyxia (PA) and hypoxic ischemic encephalopathy (HIE). Phenobarbital (PB) is first-line strategy, although data on its potential side-effects need elucidation. We investigated whether: i) PB administration PA-HIE TH-treated affects S100B urine levels, ii) could be a reliable early predictor SZ. Methods performed prospective case-control study 88...
In the literature, there are no studies about transfusion threshold for neonates with hypoxic-ischemic encephalopathy (HIE) undergoing therapeutic hypothermia (TH). order to facilitate accurate interpretation of coagulation results in these neonates, we aimed generate specific reference intervals this population.
The glycosylphosphatidylinositol (GPI) is a glycol–lipid that anchors several proteins to the cell surface. GPI-anchor pathway crucial for correct function of involved in function, and it fundamental early neurogenesis neural development. PIG gene family group genes this with six identified so far, defects these are associated rare inborn metabolic disorder manifesting spectrum clinical phenotypes newborns children. Among them, PIGO encodes phosphatidylinositol glycan anchor biosynthesis...
Background The lung ultrasound (LUS) score can be a useful tool to predict the need for respiratory support and length of hospital stay in infants with bronchiolitis. Objective To compare features neonates up three months age bronchiolitis determine whether LUS scores (range 0–36) differ coinfections or not. Methods Neonates younger than admitted neonatal units from October 2022 March 2023, who underwent evaluation on admission, were included this retrospective study. Results We 60 patients...
<b>Background:</b> Bronchiolitis is the leading cause of hospitalization in infants <1 year. <b>Aim:</b> to analyze epidemiological and clinical features during 10 consecutive bronchiolitis seasons (Oct 2004-May 2014). <b>Methods:</b> among 190950 children admitted Pediatric Emergency Department, "Sapienza" University Rome, 3151 patients was diagnosed. Out these, we selected 724 previously healthy term infants(median age 64d;395M) hospitalized collected nasal aspirates detect, with...
Molybdenum cofactor deficiency (MoCD) is a rare and severe autosomal recessive in-born error of metabolism caused by the mutation in MOCS1, MOCS2, MOCS3 or GEPH genes, with an incidence ranging between 1 100,000 200,000 live births. The clinical presentation seizures, lethargy neurologic deficits reflects neurotoxicity mediated via sulphite accumulation, it occurs within first hours days after birth, often leading to neurodegeneration patient's death months. Imaging Choice brain-specific MRI...