Genetic disorders of the surfactant system are rare diseases with a broad range of clinical manif... more Genetic disorders of the surfactant system are rare diseases with a broad range of clinical manifestations, from fatal respiratory distress syndrome (RDS) in neonates to chronic interstitial lung disease (ILD) in children and adults. ABCA3 [ATP-binding cassette (ABC), subfamily A, member 3] is a lung-specific phospholipid transporter critical for intracellular surfactant synthesis and storage in lamellar bodies (LBs). Its expression is developmentally regulated, peaking prior to birth under the influence of steroids and transcription factors. Bi-allelic mutations of the ABCA3 gene represent the most frequent cause of congenital surfactant deficiency, indicating its critical role in lung function. Mutations affect surfactant lipid and protein processing and LBs' morphology, leading to partial or total surfactant deficiency. Approximately 200 mutations have been reported, most of which are unique to individuals and families, which makes diagnosis and prognosis challenging. Variou...
printing supported by . Visit Chiesi at Stand D.30 TUESDAY, SEPTEMBER 27TH 2011 effect of hypoxia... more printing supported by . Visit Chiesi at Stand D.30 TUESDAY, SEPTEMBER 27TH 2011 effect of hypoxia on otoacoustic emissions findings was found (p<0.05). However, there was no significant effect of inhaled aminoglycosides on auditory functions whether pure tone audiometry, speech audiometry and transient evoked otoacoustic emissions testing. Conclusions: Children with chronic lung diseases are liable to cochlear dysfunction due to prolonged hypoxia. Inhaled aminoglycosides in chronic lung diseases is relatively safe on auditory functions. P4573 Health-related quality of life in non-cystic fibrosis bronchiectasis children Ameer Hamzah1, Yasemin Gokdemir2, Cagatay Cimsit3, Refika Ersu2, Fazilet Karakoc2, Bulent Karadag2. 1Department of Paediatrics, Marmara University Faculty of Medicine, Istanbul, Turkey; 2Department of Paediatric Pulmonolgy, Marmara University Faculty of Medicine, Istanbul, Turkey; 3Department of Radiology, Marmara University Faculty of Medicine, Istanbul,
Neuromuscular diseases may involve all major respiratory muscles groups including inspiratory, ex... more 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 of morbidity in children with neuromuscular disease. The aim of this review is to collect knowledge about pneumonia in children with neuromuscular diseases. Pneumonia usually follows viral respiratory infections of the upper respiratory tract, due to the combination of an increased amount of nasal and oral secretions and an impairment of the cough efficiency and of the clearance of secretions due to the muscle weakness, further compromised by the infection itself. The accumulation of bronchial secretions leads to atelectasis and promote bacterial infection. Moreover, dysfunction of swallowing mechanism exposes these children to the risk of developing aspiration pneumonia. However, etiology of viral and bacterial respiratory infection in these patie...
Introduction: congenital bronchopulmonary malformations are uncommon but potentially life-threate... more Introduction: congenital bronchopulmonary malformations are uncommon but potentially life-threatening. Methods: 73 patients were evaluated for primary or secondary bronchopulmonary abnormalities, in 2018. Results: 10 had static airway anomalies: congenital subglottic stenosis (n=2), left bronchial stenosis (n=4), congenital tracheal stenosis (n=4). 23 had dynamic airway abnormalities: tracheomalacia (n=21), laryngomalacia (n=2), bronchomalacia (n=3). 27 had bronchial tree and lung development anomalies: left bronchial atresia (n=2), right bronchial atresia (n=2), supernumerary bronchus (n=2), “tracheal” bronchus (n=4), bronchus rotation (n=1), cystic adenomatoid malformation (n=6), bronchogenic cyst (n=1), congenital lobar emphysema (n=2), lung hypoplasia (4), lung hypo-dysplasia (n=2). 8 patients had diaphragmatic anomalies: congenital diaphragmatic hernias (n=6) and relaxation (n=2). 35 had vascular anomalies determining trachea-bronchial tree involvement: double aortic arch (n=7), right aortic arch and arteria lusoria with or without Kommerell diverticulum (n=respectively 9 and 6) were the most frequent. 56 children had respiratory symptoms. All the woman performed a prenatal US: 18 detected a malformation, 1 was false negative. 6/7 fetal cardiac US were positive. 69 patients underwent chest CT scan, all were positive. 38 patients underwent flexible laryngo-tracheo-bronchoscopy (LTBS), 35 were positive. Surgery was performed in 31 children. Conclusions: we propose the description of large sample of pediatric patients with congenital bronchopulmonary malformations, followed from one Center. Chest CT and LTBS are important investigation in congenital airway anomalies.
Pulmonary Capillary Haemangiomatosis (PCH) is a rare disease with broad symptoms, from dyspnoea t... more Pulmonary Capillary Haemangiomatosis (PCH) is a rare disease with broad symptoms, from dyspnoea to pulmonary hypertension. Oral steroids are considered the first line treatment for severe haemangioma. Other therapeutic options are less used for side effects and toxicity. Propanolol has been discovered by chance in 2 children who showed rapid regression of skin haemangiomas when treated for cardiopulmonary conditions. We describe a case of a 8 year old boy with persistent respiratory failure, in whom open lung biopsy demonstrated diffuse proliferation of capillary vessels consistent with PCH. L. began propanolol, with increasing dose up to 2 mg/kg/day. Respiratory symptoms and general conditions immediately improved without side effects and steroid treatment discontinuation was achieved uneventfully. Propanolol therapy was effective in resolving respiratory symptoms and avoiding new lesions growth without any observed side effect. In our patient we achieved lesions stability, excellent general and respiratory conditions, satisfactory growth; the future most likely therapeutic approach may be surgical to completely remove the lesion. A control MRI, performed after 6 months, showed that no new lesions appeared after the treatment, due to the anti-neoangiogenic effect of propranolol, which avoids new vessels growth. The patient is still on propranolol and in regular follow up. The lesions are stable, his general and respiratory conditions excellent, growth is satisfactory; the future most likely therapeutic approach may be surgically to completely remove the lesion. The excellent results that we reached with lack of adverse effects confirm propanolol a promising therapy for difficult haemangiomas, including PCH.
SP-C dysfunction is one of the most frequent causes of Interstitial Lung Disease (ILD). We descri... more SP-C dysfunction is one of the most frequent causes of Interstitial Lung Disease (ILD). We describe three pts with the same SP-C mutation but different phenotypes. Case 1: TD, 3 yrs, persistent cough, dyspnoea, ground glass opacities and subpleural micronodules at CT. SP-C gene analysis positive for the mutation I73T. Hydroxychloroquine was started, 3 months later TD was asymptomatic, CT improved and normalised after 6 months. Case 2: UM, 4 yrs, healthy up to 6 months, when a RSV caused severe respiratory insufficiency. Normal bronchoscopy, CT with ILD. Referred at one yr, O2 and steroid dependent, CT with wide ground glass opacities and “honeycomb”. Despite systemic steroids CT worsened. Lung biopsy showed desquamative interstitial pneumonia (DIP), ultrastructure was consistent with surfactant deficiency. Genetical analysis showed the I73T mutation. After the 6th iv bolus of high dose steroids CT worsened, hydroxychloroquine was started with a reduction of O2 and steroid needs. The last CT is stable, O2 discontinued. Case 3: CR, recurrent pneumonia in the first year, admitted at 15 months (Naples) for acute respiratory distress. Chest Xray with wide opacities and interstitial thickening, CT scan increased parenchymal density and multiple consolidation. Because of prolonged VM tracheostomy was performed. A lung biopsy, examinated in our Hospital, showed ILD with DIP/alveolar proteinosis. Ultrastructurel was consistent with congenital abnormalities of surfactant proteins. Molecular analysis showed the presence of the mutation I73T. Hydroxychloroquine started after the biopsy, the patient died after 2 weeks Conclusion: This study confrims the eterogeneity of SP-C deficiency despite same genetic mutations.
Few reports on sleep patterns of patients with spinal muscular atrophy type 1 (SMA1) have been pu... more Few reports on sleep patterns of patients with spinal muscular atrophy type 1 (SMA1) have been published and none on sleep microstructure. The aim of this study was to analyze sleep architecture and microstructure in a group of infants with SMA1, compared with age- and sex-matched controls. Twelve SMA1 patients (six males, mean age 5.9 months) and 10 controls (five males, mean age 4.8 months) underwent full polysomnography to evaluate their sleep architecture and microstructure by means of the cyclic alternating pattern (CAP). Compared with control children, SMA1 patients showed increased sleep latency and apnea/hypopnea index. CAP analysis revealed a significant increase in the percentage of A1 CAP subtypes, a reduction of that of A3 subtypes and of A2 and A3 indexes (number/h), indicating a dysfunction of the arousal system in these patients. The results indicate the presence of an abnormality of sleep microstructure in SMA1 patients, characterized by a reduction of A2 and A3 CAP ...
Background: Very few studies have explored the distinguishing features of severe asthma in childh... more Background: Very few studies have explored the distinguishing features of severe asthma in childhood in Europe, and only one study was conducted in Southern Europe. The aim of this study was to provide a detailed characterization of children with severe asthma treated in specialized pediatric asthma centers across Italy. Methods: We conducted a web-based data collection of family, environmental, clinical and laboratory characteristics of 41 patients aged 6–17 years with severe asthma, defined according to the recent guidelines of the European Respiratory Society and the American Thoracic Society, and 78 age-matched peers with non-severe persistent asthma. The patients have been enrolled from 16 hospital-based pediatric pulmonology and allergy centers in Northern, Central, and Southern Italy. Logistic regression analysis assessed the relationship between patients ’ characteristics and severe asthma or non-severe persistent asthma. Results: Features independently and significantly ass...
Patients with a history of short bowel syndrome have higher risk for cow’s milk allergy Intraveno... more Patients with a history of short bowel syndrome have higher risk for cow’s milk allergy Intravenous drug preparation might contain lactose as an excipient, that might have contaminated with milk protein
Genetic disorders of the surfactant system are rare diseases with a broad range of clinical manif... more Genetic disorders of the surfactant system are rare diseases with a broad range of clinical manifestations, from fatal respiratory distress syndrome (RDS) in neonates to chronic interstitial lung disease (ILD) in children and adults. ABCA3 [ATP-binding cassette (ABC), subfamily A, member 3] is a lung-specific phospholipid transporter critical for intracellular surfactant synthesis and storage in lamellar bodies (LBs). Its expression is developmentally regulated, peaking prior to birth under the influence of steroids and transcription factors. Bi-allelic mutations of the ABCA3 gene represent the most frequent cause of congenital surfactant deficiency, indicating its critical role in lung function. Mutations affect surfactant lipid and protein processing and LBs' morphology, leading to partial or total surfactant deficiency. Approximately 200 mutations have been reported, most of which are unique to individuals and families, which makes diagnosis and prognosis challenging. Variou...
printing supported by . Visit Chiesi at Stand D.30 TUESDAY, SEPTEMBER 27TH 2011 effect of hypoxia... more printing supported by . Visit Chiesi at Stand D.30 TUESDAY, SEPTEMBER 27TH 2011 effect of hypoxia on otoacoustic emissions findings was found (p<0.05). However, there was no significant effect of inhaled aminoglycosides on auditory functions whether pure tone audiometry, speech audiometry and transient evoked otoacoustic emissions testing. Conclusions: Children with chronic lung diseases are liable to cochlear dysfunction due to prolonged hypoxia. Inhaled aminoglycosides in chronic lung diseases is relatively safe on auditory functions. P4573 Health-related quality of life in non-cystic fibrosis bronchiectasis children Ameer Hamzah1, Yasemin Gokdemir2, Cagatay Cimsit3, Refika Ersu2, Fazilet Karakoc2, Bulent Karadag2. 1Department of Paediatrics, Marmara University Faculty of Medicine, Istanbul, Turkey; 2Department of Paediatric Pulmonolgy, Marmara University Faculty of Medicine, Istanbul, Turkey; 3Department of Radiology, Marmara University Faculty of Medicine, Istanbul,
Neuromuscular diseases may involve all major respiratory muscles groups including inspiratory, ex... more 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 of morbidity in children with neuromuscular disease. The aim of this review is to collect knowledge about pneumonia in children with neuromuscular diseases. Pneumonia usually follows viral respiratory infections of the upper respiratory tract, due to the combination of an increased amount of nasal and oral secretions and an impairment of the cough efficiency and of the clearance of secretions due to the muscle weakness, further compromised by the infection itself. The accumulation of bronchial secretions leads to atelectasis and promote bacterial infection. Moreover, dysfunction of swallowing mechanism exposes these children to the risk of developing aspiration pneumonia. However, etiology of viral and bacterial respiratory infection in these patie...
Introduction: congenital bronchopulmonary malformations are uncommon but potentially life-threate... more Introduction: congenital bronchopulmonary malformations are uncommon but potentially life-threatening. Methods: 73 patients were evaluated for primary or secondary bronchopulmonary abnormalities, in 2018. Results: 10 had static airway anomalies: congenital subglottic stenosis (n=2), left bronchial stenosis (n=4), congenital tracheal stenosis (n=4). 23 had dynamic airway abnormalities: tracheomalacia (n=21), laryngomalacia (n=2), bronchomalacia (n=3). 27 had bronchial tree and lung development anomalies: left bronchial atresia (n=2), right bronchial atresia (n=2), supernumerary bronchus (n=2), “tracheal” bronchus (n=4), bronchus rotation (n=1), cystic adenomatoid malformation (n=6), bronchogenic cyst (n=1), congenital lobar emphysema (n=2), lung hypoplasia (4), lung hypo-dysplasia (n=2). 8 patients had diaphragmatic anomalies: congenital diaphragmatic hernias (n=6) and relaxation (n=2). 35 had vascular anomalies determining trachea-bronchial tree involvement: double aortic arch (n=7), right aortic arch and arteria lusoria with or without Kommerell diverticulum (n=respectively 9 and 6) were the most frequent. 56 children had respiratory symptoms. All the woman performed a prenatal US: 18 detected a malformation, 1 was false negative. 6/7 fetal cardiac US were positive. 69 patients underwent chest CT scan, all were positive. 38 patients underwent flexible laryngo-tracheo-bronchoscopy (LTBS), 35 were positive. Surgery was performed in 31 children. Conclusions: we propose the description of large sample of pediatric patients with congenital bronchopulmonary malformations, followed from one Center. Chest CT and LTBS are important investigation in congenital airway anomalies.
Pulmonary Capillary Haemangiomatosis (PCH) is a rare disease with broad symptoms, from dyspnoea t... more Pulmonary Capillary Haemangiomatosis (PCH) is a rare disease with broad symptoms, from dyspnoea to pulmonary hypertension. Oral steroids are considered the first line treatment for severe haemangioma. Other therapeutic options are less used for side effects and toxicity. Propanolol has been discovered by chance in 2 children who showed rapid regression of skin haemangiomas when treated for cardiopulmonary conditions. We describe a case of a 8 year old boy with persistent respiratory failure, in whom open lung biopsy demonstrated diffuse proliferation of capillary vessels consistent with PCH. L. began propanolol, with increasing dose up to 2 mg/kg/day. Respiratory symptoms and general conditions immediately improved without side effects and steroid treatment discontinuation was achieved uneventfully. Propanolol therapy was effective in resolving respiratory symptoms and avoiding new lesions growth without any observed side effect. In our patient we achieved lesions stability, excellent general and respiratory conditions, satisfactory growth; the future most likely therapeutic approach may be surgical to completely remove the lesion. A control MRI, performed after 6 months, showed that no new lesions appeared after the treatment, due to the anti-neoangiogenic effect of propranolol, which avoids new vessels growth. The patient is still on propranolol and in regular follow up. The lesions are stable, his general and respiratory conditions excellent, growth is satisfactory; the future most likely therapeutic approach may be surgically to completely remove the lesion. The excellent results that we reached with lack of adverse effects confirm propanolol a promising therapy for difficult haemangiomas, including PCH.
SP-C dysfunction is one of the most frequent causes of Interstitial Lung Disease (ILD). We descri... more SP-C dysfunction is one of the most frequent causes of Interstitial Lung Disease (ILD). We describe three pts with the same SP-C mutation but different phenotypes. Case 1: TD, 3 yrs, persistent cough, dyspnoea, ground glass opacities and subpleural micronodules at CT. SP-C gene analysis positive for the mutation I73T. Hydroxychloroquine was started, 3 months later TD was asymptomatic, CT improved and normalised after 6 months. Case 2: UM, 4 yrs, healthy up to 6 months, when a RSV caused severe respiratory insufficiency. Normal bronchoscopy, CT with ILD. Referred at one yr, O2 and steroid dependent, CT with wide ground glass opacities and “honeycomb”. Despite systemic steroids CT worsened. Lung biopsy showed desquamative interstitial pneumonia (DIP), ultrastructure was consistent with surfactant deficiency. Genetical analysis showed the I73T mutation. After the 6th iv bolus of high dose steroids CT worsened, hydroxychloroquine was started with a reduction of O2 and steroid needs. The last CT is stable, O2 discontinued. Case 3: CR, recurrent pneumonia in the first year, admitted at 15 months (Naples) for acute respiratory distress. Chest Xray with wide opacities and interstitial thickening, CT scan increased parenchymal density and multiple consolidation. Because of prolonged VM tracheostomy was performed. A lung biopsy, examinated in our Hospital, showed ILD with DIP/alveolar proteinosis. Ultrastructurel was consistent with congenital abnormalities of surfactant proteins. Molecular analysis showed the presence of the mutation I73T. Hydroxychloroquine started after the biopsy, the patient died after 2 weeks Conclusion: This study confrims the eterogeneity of SP-C deficiency despite same genetic mutations.
Few reports on sleep patterns of patients with spinal muscular atrophy type 1 (SMA1) have been pu... more Few reports on sleep patterns of patients with spinal muscular atrophy type 1 (SMA1) have been published and none on sleep microstructure. The aim of this study was to analyze sleep architecture and microstructure in a group of infants with SMA1, compared with age- and sex-matched controls. Twelve SMA1 patients (six males, mean age 5.9 months) and 10 controls (five males, mean age 4.8 months) underwent full polysomnography to evaluate their sleep architecture and microstructure by means of the cyclic alternating pattern (CAP). Compared with control children, SMA1 patients showed increased sleep latency and apnea/hypopnea index. CAP analysis revealed a significant increase in the percentage of A1 CAP subtypes, a reduction of that of A3 subtypes and of A2 and A3 indexes (number/h), indicating a dysfunction of the arousal system in these patients. The results indicate the presence of an abnormality of sleep microstructure in SMA1 patients, characterized by a reduction of A2 and A3 CAP ...
Background: Very few studies have explored the distinguishing features of severe asthma in childh... more Background: Very few studies have explored the distinguishing features of severe asthma in childhood in Europe, and only one study was conducted in Southern Europe. The aim of this study was to provide a detailed characterization of children with severe asthma treated in specialized pediatric asthma centers across Italy. Methods: We conducted a web-based data collection of family, environmental, clinical and laboratory characteristics of 41 patients aged 6–17 years with severe asthma, defined according to the recent guidelines of the European Respiratory Society and the American Thoracic Society, and 78 age-matched peers with non-severe persistent asthma. The patients have been enrolled from 16 hospital-based pediatric pulmonology and allergy centers in Northern, Central, and Southern Italy. Logistic regression analysis assessed the relationship between patients ’ characteristics and severe asthma or non-severe persistent asthma. Results: Features independently and significantly ass...
Patients with a history of short bowel syndrome have higher risk for cow’s milk allergy Intraveno... more Patients with a history of short bowel syndrome have higher risk for cow’s milk allergy Intravenous drug preparation might contain lactose as an excipient, that might have contaminated with milk protein
Uploads
Papers by Renato Cutrera