Search Results - "Ottonello, Giancarlo"
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Guidelines for diagnosis and management of congenital central hypoventilation syndrome
Published in Orphanet journal of rare diseases (21-09-2020)“…Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central…”
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2
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome
Published in Human mutation (01-01-2008)“…Heterozygous polyalanine repeat expansions of PHOX2B have been associated with Congenital Central Hypoventilation Syndrome, a rare neurocristopathy…”
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3
Home mechanical ventilation in children: Retrospective survey of a pediatric population
Published in Pediatrics international (01-12-2007)“…Background: Home care support is beneficial for children needing mechanical ventilation, when clinically stable. Methods: A retrospective analysis was carried…”
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4
Survival of patients with spinal muscular atrophy type 1
Published in Pediatrics (Evanston) (01-05-2013)“…Spinal muscular atrophy type 1 (SMA1) is a progressive disease and is usually fatal in the first year of life. A retrospective chart review was performed of…”
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5
Daily practice of mechanical ventilation in Italian pediatric intensive care units: a prospective survey
Published in Pediatric critical care medicine (01-03-2011)“…To assess how children requiring endotracheal intubation are mechanically ventilated in Italian pediatric intensive care units (PICUs). A prospective,…”
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6
Intersocietal survey on real-world asthma management in Italian children
Published in Italian journal of pediatrics (01-08-2024)“…Pediatric asthma management is a compelling challenge for every pediatrician. Different aspects require attention and definition. The present Intersocietal…”
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7
Postpartum depression screening in mothers and fathers at well-child visits: a feasibility study within the NASCITA cohort
Published in BMJ open (23-06-2023)“…ObjectiveTo assess the feasibility of the family paediatrician’s (FP) role in identifying the signs of postpartum depression in parents in time to guarantee…”
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8
National, longitudinal NASCITA birth cohort study to investigate the health of Italian children and potential influencing factors
Published in BMJ open (15-11-2022)“…PurposeThe NASCITA Study, a national-level, population-based, prospective cohort study, was set up to better understand the early health status of Italian…”
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9
Spinal muscular atrophy type 1: avoidance of hospitalization by respiratory muscle support
Published in American journal of physical medicine & rehabilitation (01-11-2011)“…The aim of this study was to report the outcomes of an oximetry protocol using up to continuous full ventilator-setting noninvasive ventilation (NIV) and…”
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10
Congenital central hypoventilation syndrome and hypoglycaemia
Published in Acta Paediatrica (01-02-2012)“…Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder typically presenting in infants with an impaired automatic control of breathing,…”
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11
Long-term home ventilation of children in Italy: A national survey
Published in Pediatric pulmonology (01-06-2011)“…Background Improved technology, as well as professional and parental awareness, enable many ventilator‐dependent children to live at home. However, the profile…”
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12
Proceedings of the fourth international conference on central hypoventilation
Published in Orphanet journal of rare diseases (05-12-2014)“…Central hypoventilation syndromes (CHS) are rare diseases of central autonomic respiratory control associated with autonomous nervous dysfunction. Severe…”
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13
National, longitudinal NASCITA birth cohort study: prevalence of overweight at 12 months of age in children born healthy
Published in BMJ paediatrics open (01-01-2023)“…ObjectiveTo estimate the prevalence of overweight at 12 months in an Italian birth cohort and to identify factors related to an increased likelihood of being…”
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14
Noninvasive ventilation and low-flow veno-venous extracorporeal carbon dioxide removal as a bridge to lung transplantation in a child with refractory hypercapnic respiratory failure due to bronchiolitis obliterans
Published in Pediatric critical care medicine (01-01-2010)“…To report the successful management of end-stage hypercapnic respiratory failure through the association of noninvasive mechanical ventilation and a novel…”
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15
Brainstem Anomalies in Two Patients Affected by Congenital Central Hypoventilation Syndrome
Published in American journal of respiratory and critical care medicine (15-09-2006)“…Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy characterized by absence of automatic control of respiration; decreased…”
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16
A Novel Missense Mutation in the PHOX2B Gene Is Associated With Late Onset Central Hypoventilation Syndrome
Published in Pediatric pulmonology (01-10-2008)“…We report the case of a 15-month-old male suffering from Late Onset Congenital Central Hypoventilation Syndrome and recto-sigmoid Hirschsprung's disease, an…”
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17
A novel missense mutation in the PHOX2Bgene is associated with late onset central hypoventilation syndrome
Published in Pediatric pulmonology (01-10-2008)“…We report the case of a 15‐month‐old male suffering from Late Onset Congenital Central Hypoventilation Syndrome and recto‐sigmoid Hirschsprung's disease, an…”
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18
Noninvasive ventilation in a child affected by achondroplasia respiratory difficulty syndrome
Published in Pediatric anesthesia (01-01-2007)“…Summary Achondroplasia can result in respiratory difficulty in early infancy, from anatomical abnormalities such as mid‐facial hypoplasia and/or adenotonsillar…”
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19
Original Article: Home mechanical ventilation in children: Retrospective survey of a pediatric population
Published in Pediatrics international (01-12-2007)“…Home care support is beneficial for children needing mechanical ventilation, when clinically stable. A retrospective analysis was carried out of the long-term…”
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20
Sudden Death in an Infant Revealing Atypical Kawasaki Disease
Published in Pediatric emergency care (01-01-2006)“…We present a case of a 4-month-old girl referred to the emergency department with a provisional diagnosis of acute life-threatening event with a recent episode…”
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