To identify subgroups regarding paediatricians' awareness, attitude, practice and satisfaction about management of Sleep-Disordered Breathing (SDB) in Italy using Latent Class Analysis (LCA).
A ...cross-sectional study was conducted on a large sample of Italian paediatricians. Using a self-administered questionnaire, the study collected information on 420 Paediatric Hospital Paediatricians (PHPs) and 594 Family Care Paediatricians (FCPs). LCA was used to discover underlying response patterns, thus allowing identification of respondent groups with similar awareness, attitude, practice and satisfaction. A logistic regression model was used to investigate which independent variables influenced latent class membership. Analyses were performed using R 3.5.2 software. A p-value<0.05 was considered statistically significant.
Two classes were identified: Class 1 (n = 368, 36.29%) "Untrained and poorly satisfied" and Class 2 (n = 646, 63.71%) "Trained and satisfied." Involving paediatric pneumologists or otorhinolaryngologists in clinical practice was associated with an increased probability of Class 2 membership (OR = 5.88, 95%CI 2.94-13.19; OR = 15.95, 95% CI 10.92-23.81 respectively). Examining more than 20 children with SDB during the last month decreased the probability of Class 2 membership (OR = 0.29, 95% CI 0.14-0.61). FCPs showed a higher probability of Class 2 membership than PHPs (OR = 4.64, 95% CI 3.31-6.55).
These findings suggest that the LCA approach can provide important information on how education and training could be tailored for different subgroups of paediatricians. In Italy standardized educational interventions improving paediatricians' screening of SDB are needed in order to guarantee efficient management of children with SDB and reduce the burden of disease.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Abstract
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 female affected by Rett syndrome with congenital variant-like onset, characterized by severe hypotonia and neurodevelopment impairment. She presented hypoventilation, persistent periodic breathing, and sustained desaturation during sleep, without obstructive or mixed events. Pulse oximetry and capnography during wakefulness were strictly normal. To the best of our knowledge, this is the first case of a patient affected by a congenital variant of Rett syndrome presenting sleep hypercapnia. Hypotonia may play a major role in the genesis of hypoventilation and hypoxemia in our patient. Non-invasive ventilation led to quality-of-life improvements.
Conclusions
Thus, we suggest screening patients with congenital-like Rett syndrome through transcutaneous bedtime carbon dioxide and oxygen monitoring. Moreover, assisted control mode was a breakthrough to achieve adequate ventilation in our case.
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Abstract
Background
E-cigarettes are devices which allow to aerosolize liquids containing nicotine or other substances. Ever since they were released on the market in 2006, the number of users have ...been constantly increasing, especially among adolescents, ranging from 7,6% to 9,3% in the age group 18–24 years old from 2014 to 2019. Hand in hand with the spread of E-cigarettes many have been the efforts to understand their impact on health. EVALI (E-cigarette or Vaping product use Associated Lung Injury) is an emerging condition with a heterogeneous presentation with several reported cases worldwide. We mean to report a case of EVALI in a 15-year-old female Caucasian patient, who's currently attending her clinic follow-up at Bambino Gesù Pediatric Hospital in Rome.
Case presentation
The patient was admitted to the Emergency Room due to acute respiratory failure in November 2020. At admittance, she was severely dyspneic (HR 120 bpm, SatO2 75%). As she was hospitalized amid the COVID-19 pandemics, she underwent a nasopharyngeal swab for SARS-CoV2, which turned out negative, and a chest CT scan. Chest CT scan showed a central ground grass pattern with peripheral sparing. At the anamnestic recall, it was disclosed she was an e-cigarette smoker and occasional marijuana user. The microbiological work-up proved only positive for Rhinovirus. Her clinical and radiological case was discussed with our radiologist who suspected EVALI. She was assisted through HFNC, antibiotical therapy and corticosteroids with a dramatic recovery within the first 48 h.
Conclusions
EVALI started being recognized a specifically nosological entity in summer 2019, with increasing cases being reported. No diagnostic criteria have been agreed upon yet, but its usual presentation includes respiratory, gastrointestinal and systemic symptoms of different degree and the diagnosis can be hypothesised in case the patient has an evocative clinical and radiological presentation and has been an E-cigarette smoker in previous 90 days. Due to the novelty of the condition and its heterogeneous presentation it is of interest to report the cases in which EVALI is identified to raise awareness about this emerging new-age disease.
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Congenital central hypoventilation syndrome (CCHS) is a rare disorder whose clinical phenotype is closely related to genotype.
A retrospective analysis has been conducted on 22 patients with CCHS, ...who were referred to the Pediatric Pulmonology and Respiratory Intermediate Care Unit of Bambino Gesù Children's Hospital (Italy) for a multidisciplinary follow-up program between 2000 and 2020.
Apnea and cyanosis were the most frequent symptoms at onset (91%). Overall, 59% of patients required tracheostomy and invasive mechanical ventilation (IMV) in the first months of life. Thirty-two percent of patients had Hirschsprung disease (HSCR) that was associated with longer polyalanine repetitions or non-polyalanine repeat expansion mutations (NPARMs). Polyalanine repeat expansion mutations (PARMs) were more frequent and two novel NPARMs (c.780dupT and C.225-256delCT) were described in 14% of patients. Focal epilepsy was first described in 14% of patients and neurocognitive and neuromotor impairment involved 27% and 23% of children, respectively. Symptoms due to autonomic nervous system dysfunction/dysregulation (ANSD)-including strabismus (27%), dysphagia (27%), abnormal heart rhythm (10%), breath-holding spells (9%), and recurrent seizures due to hypoglycemia (9%)-were associated with an increased number of polyalanine repetitions of exon 3 or NPARMs of PHOX2B gene. Overall, the number of patients with moderate to severe phenotype initially treated with non-invasive ventilation (NIV) increased over time, and the decannulation program was concluded with 3 patients who started with IMV.
Our study confirms that more severe phenotypes of CCHS are related to the number of polyalanine repetitions or to NPARMs. Although invasive ventilation is often required by patients with severe genotype/phenotype, gradual acquisition of specific skills in the management of patients with CCHS and technological improvements in mechanical ventilation allowed us to improve our therapeutic approach in this population.
Pleural effusion is a rare complication of ventriculo-peritoneal (VP) cerebrospinal fluid (CSF) shunting and its diagnosis is difficult in patients with neurological and consciousness impairment.
...Herein we report the case of a child affected by Pfeiffer syndrome and hydrocephalus, shunted at the age of 3 months, who developed acute respiratory failure due to a right-sided pleural effusion 2 years later. Plain chest radiographs and computed tomography (CT) showed the intrathoracic migration of the right VP shunt abdominal tip. Beta-2 transferrin, a marker for CSF, was found in the pleural fluid and the hypothesis of a CSF hydrothorax was confirmed. Effusion was treated with a thoracentesis. Seven days after, the right VP shunt was revised; a ventriculo-atrial (VA) shunt was also placed on the left side to serve as the main CSF shunt and to prevent the recurrence of hydrothorax. We review the pediatric cases of CSF hydrothorax reported in the literature and discuss the mechanisms underlying this complication together with the possible treatments.
Pleural effusion due to VP shunt insertion is a rare and potentially life-threatening condition that should be suspected in any patient with a VP shunt and respiratory failure. Signs of hydrothorax may moreover represent the only clinical evidence of a shunt-related complication in case of neurologically severely compromised patients in which neurologic examination cannot help to make a diagnosis.
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Five years after the first edition, we have revised and updated the guidelines, re-examining the queries and relative recommendations, expanding the issues addressed with the introduction of a new ...entity, recently proposed by the American Academy of Pediatrics: BRUE, an acronym for Brief Resolved Unexplained Events. In this manuscript we will use the term BRUE only to refer to mild, idiopathic cases rather than simply replace the acronym ALTE per se.In our guidelines the acronym ALTE is used for severe cases that are unexplainable after the first and second level examinations.Although the term ALTE can be used to describe the common symptoms at the onset, whenever the aetiology is ascertained, the final diagnosis may be better specified as seizures, gastroesophageal reflux, infection, arrhythmia, etc. Lastly, we have addressed the emerging problem of the so-called Sudden Unexpected Postnatal Collapse (SUPC), that might be considered as a severe ALTE occurring in the first week of life.
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Central hypoventilation (CH) is a quite rare disorder caused by some congenital or acquired conditions. It is featured by increased arterial concentration of serum carbon dioxide related to an ...impairment of respiratory drive. Patients affected by CH need to be treated by mechanical ventilation in order to achieve appropriate ventilation and oxygenation both in sleep and wakefulness. In fact, in severe form of Congenital Central Hypoventilation Syndrome (CCHS) hypercarbia can be present even during the day. Positive pressure ventilation via tracheostomy is the first therapeutic option in this clinical condition, especially in congenital forms. Non-Invasive ventilation is a an option that must be reserved for more stable clinical situations and that requires careful monitoring over time.
Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation increasing during sleep and affected patients are unable to perceive and respond to hypercarbia with ...increased ventilation and arousal during sleep. PHOX2B gene mutations are considered as responsible for CCHS. Most of patients with CCHS are heterozygous for polyalanine expansion mutations (PARMs) in exon 3, but 10% of patients with classic CCHS are heterozygous for non-polyalanine expansion mutations (NPARMs) of the PHOX2B gene.
Data are collected on 3 patients affected by CCHS who referred to the Paediatric Pulmonology Unit of Bambino Gesù Children's Hospital (Rome, Italy) for a multidisciplinary follow-up program between 2000 and 2017.
We describe three cases of patients affected by CCHS for which two novel mutations on exon 3 of PHOX2B gene were detected.
The description of these novel mutations and related clinical phenotypes allows to expand the knowledge into NPARM spectrum. Since the presence of Hirschsprung disease is related to NPARMs and the number of alanine repeats, we suggest performing CCHS genetic investigation and periodical assessment also in patients without a clear history of CCHS but affected by Hirschsprung disease.
Data are retrospectively collected.
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