Maria Beatrice Chiarini Testa
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View article: Whooping Cough Cases Increase in Central Italy after COVID-19 Pandemic
Whooping Cough Cases Increase in Central Italy after COVID-19 Pandemic Open
Pertussis continues to be a highly contagious respiratory infection, especially in children, with cyclical peaks of disease spread every three to five years. Here, we report relevant cases of B. pertussis infection between August 2023 and …
View article: Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly
Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly Open
Holoprosencephaly is a complex human brain malformation resulting from incomplete cleavage of the prosencephalon into both hemispheres. Congenital nasal pyriform aperture stenosis (CNPAS) is sometimes found in patients with mild forms of h…
View article: Hypoventilation in a case of congenital Rett syndrome
Hypoventilation in a case of congenital Rett syndrome Open
Breathing disturbances are often a major clinical concern during wakefulness of classic form of Rett syndrome, but data for atypical forms are lacking. We report the case of a 20-month-old female affected by the congenital variant of Rett …
View article: Care Issues in Patients with Rett Syndrome: A Parental Perspective
Care Issues in Patients with Rett Syndrome: A Parental Perspective Open
Background: The purpose of this study is to better understand the way caregivers of patients with Rett syndrome perceive the quality of the health care services they receive and identify its main shortcomings. Methods: A survey was distrib…
View article: Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies Open
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View article: Children with medical complexity and pediatric palliative care: Data by a respiratory intermediate care unit
Children with medical complexity and pediatric palliative care: Data by a respiratory intermediate care unit Open
Pediatric palliative care (PPC) is an active and total approach to the care of children with life‐limiting conditions and their families. PPC programs provide ongoing treatment for children with medical complexity (CMC), many of whom will …
View article: Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome
Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome Open
Background Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking. Case presentation We report the case of a 20-month-old fema…
View article: Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies
Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies Open
View article: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies Open
View article: All You Need Is Evidence: What We Know About Pneumonia in Children With Neuromuscular Diseases
All You Need Is Evidence: What We Know About Pneumonia in Children With Neuromuscular Diseases Open
Neuromuscular diseases may involve all major respiratory muscles groups including inspiratory, expiratory, and bulbar muscles. Respiratory complications are the major cause of morbidity and mortality. Pneumonia represents a frequent cause …
View article: Hepatobiliary disease in XLMTM. A common comorbidity with potential impact on treatment strategies
Hepatobiliary disease in XLMTM. A common comorbidity with potential impact on treatment strategies Open
BACKGROUND: X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they o…
View article: Children with medical complexity and paediatric palliative care: data by a respiratory intermediate care unit
Children with medical complexity and paediatric palliative care: data by a respiratory intermediate care unit Open
Pediatric palliative care (PPC) is an active and total approach to the care of children with life-limiting conditions and to their families. PPC programs provide ongoing care for children with medical complexity (CMC), many of whom will re…
View article: How the Management of Children With Congenital Central Hypoventilation Syndrome Has Changed Over Time: Two Decades of Experience From an Italian Center
How the Management of Children With Congenital Central Hypoventilation Syndrome Has Changed Over Time: Two Decades of Experience From an Italian Center Open
Background: Congenital central hypoventilation syndrome (CCHS) is a rare disorder whose clinical phenotype is closely related to genotype. Methods: A retrospective analysis has been conducted on 22 patients with CCHS, who were referred to …
View article: A Novel, Portable MESH Nebulizer—An Alternative to Metered Dose Inhaler: Efficacy and Usability in Preschool Wheezers
A Novel, Portable MESH Nebulizer—An Alternative to Metered Dose Inhaler: Efficacy and Usability in Preschool Wheezers Open
Introduction and Objectives: Wheezing episodes are the first causes of doctor's consultation in preschool age. Treatment is usually administered with a metered dose inhaler (MDI) spacer. At variance, many parents and doctors prefer to use …
View article: A rare cause of multiple airways narrowing in a 15-year-old girl
A rare cause of multiple airways narrowing in a 15-year-old girl Open
Sergio Ghirardo (SG): a 15-year-old girl was first admitted to our unit, with significant dyspnoea and fatigue at rest. Her clinical history was uneventful until she was 14 years old when she was hospitalised twice for respiratory symptoms…
View article: Characteristics and outcomes in children on long-term mechanical ventilation: the experience of a pediatric tertiary center in Rome
Characteristics and outcomes in children on long-term mechanical ventilation: the experience of a pediatric tertiary center in Rome Open
Background Children with chronic respiratory failure and/or sleep disordered breathing due to a broad range of diseases may require long-term ventilation to be managed at home. Advances in the use of long-term non-invasive ventilation has …
View article: Transition to adult care in young people with neuromuscular disease on non-invasive ventilation
Transition to adult care in young people with neuromuscular disease on non-invasive ventilation Open
View article: An observational study of functional abilities in infants, children, and adults with type 1 SMA
An observational study of functional abilities in infants, children, and adults with type 1 SMA Open
Our findings confirm that, after the age of 2 years, patients with type 1 spinal muscular atrophy generally survive only if they have gastrostomy and tracheostomy or noninvasive ventilation >16 hours and have low scores on the functional s…
View article: A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1” written by pechmann and colleagues”
A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1” written by pechmann and colleagues” Open
View article: Who Influences Parents’ Decision on Life Support Treatments for Children with Spinal Muscular Atrophy Type 1?
Who Influences Parents’ Decision on Life Support Treatments for Children with Spinal Muscular Atrophy Type 1? Open
View article: 1st Italian SMA Family Association Consensus Meeting:
1st Italian SMA Family Association Consensus Meeting: Open