- Email: [email protected]
Quantitative evaluation of the ventilatory response to CO2 in congenital central hypoventilation syndrome
S52
Oral Presentations / Paediatric Respiratory Reviews 14S2 (2013) S1–S53
F07-10-1 Quantitative evaluation of the ventilatory response to CO2 in congenital central hypoventilation syndrome Y. Yamada, H. Hasegawa, N. Henmi, S. Tsuruta, Y. Miyoshi, J. Mutou, M. Wasa. Tokyo Women’s Medical University Medical Center East Division of Neonatal Intensive Care, Tokyo, Japan Introduction: Congenital central hypoventilation syndrome (CCHS) is a disorder of the respiratory center at medulla oblongata. Responsiveness of the respiratory center is measured by relating the increase in minute ventilation induced by an increase in inhaled CO2 , known as the Ventilatory Response to CO2 (VR CO2 ). The VR CO2 is useful because it can be evaluated quantitatively. We measured the VR CO2 in CCHS and compared the results with normal children. Method: Records of VR CO2 in 6 children with CCHS between January 1989 and December 2012 were reviewed. Demographic data, time of diagnosis and type of PHOX2B gene abnormality were analyzed. The VR CO2 was measured using a pulmonary function measuring system made by Aivision Japan and Read’s rebreathing technique in which a mixture of 95% O2 and 5% CO2 was inhaled in a closed circuit. Result: The VR CO2 was measured 7 times. Five measurements were taken in infancy, others in adolescence. The average VR CO2 was 0.037 ml/mm2 /min/mmHg (−0.035 to 0.013). It was extremely low compared with normal children (0.64±0.23) at our institution. In a child with repeated measurements at 5 months and 18 years of age, the VR CO2 did not improve. There was no correlation between the VR CO2 , type of PHOX2B gene abnormality, and time of diagnosis. Conclusion: These data demonstrate that the VR CO2 in CCHS is extremely low compared with normal children and does not improve with age. Therefore, the VR CO2 is very useful in the diagnosis of CCHS. F08-14-35 Clinical, morphological and functional features of primary ciliary dyskinesia children in southeast Spain M.T. Romero1 , C. Carda2 , J. Milara3 , M. Armengot4 , A. Escribano5 . 1 Hospital de Denia. Pediatric Pulmonology, Alicante, Spain; 2 Valencia University, Department of Pathology, Valencia, Spain; 3 General and University Hospital. Department of Pharmacology.Valencia University, Research Unit, Valencia, Spain; 4 General and University Hospital. Department of Surgery. Valencia University, Primary Ciliary Dyskinesia Unit. ENT Department, Valencia, Spain; 5 University Clinical Hospital. Valencia University. Pediatric Pulmonology, Valencia, Spain Background: Primary Ciliary Dyskinesia (PCD) is a clinically uniform entity. However, cilia motility and structure can vary among patients, making diagnosis difficult. Diagnosis is based on the study of the ciliary motility (frequency and beat patern) by highresolution digital high-speed video (DHSV), combined with ciliary ultrastructure by electronic microscopy (EM). Objectives: (1) To set demographic and clinical features of PCD children in southeast Spain. (2) To study the concordance between morphological (EM) and functional (DHSV) findings. Methods: Descriptive-retrospective study of PCD children diagnosed by DHSV (2000–2012). Data collected: gender, age at diagnosis, situs inversus, family history, onset of symptoms, clinical features, EM and ciliary function. Results: Forty-seven children (0–16 years, 51% male), 38.3% situs inversus. Medium age at diagnosis 6 years. Family history in 34%. Onset of symptoms mainly at birth with mild neonatal distress (68%). Clinical evolution: chronic wet cough and rhinorrhea (95.7%); recurrent pneumonia (72.3%); otitis (46.8%); sinusitis (34.8%); asthma (21.3%). Almost 60% developed bronchiectasis confirmed on CT scan. DHSV was normal in 8 of 17 patients in whom diagnosis was previously made according only to EM (47%). Moreover, the EM was normal in 21% of the PCD patients confirmed by DHSV. The most common finding was absence of dynein (95.4%: 57% total vs 43% partial).
Conclusions: (1) The diseases from lower airways are more prevalent than upper ones in PCD children. (2) The diagnosis based only in EM has false positives and negatives, so ciliary motility study should be considered as gold standard for diagnosis. F09-14-129 Nasal continuous positive airway pressure (nCPAP) decreases gastroesophageal reflux in newborn lambs D. Djeddi, D. Cantin, S. Samson, H. Tian, J.-P. Praud. Centre Hospitalier Universitaire de Sherbrooke, Department of Pediatrics and Physiology, Sherbrooke, Canada Nasal CPAP has been shown to decrease gastroesophageal reflux (GER) in adult humans. Though both GER and the use of nCPAP are very frequent in newborns, the effect of nCPAP on GER is unknown in newborns. We recently showed that the newborn lamb is a unique model to study neonatal GER (Djeddi D, J Pediatr Gastroenterol Nutr 2012). Our aim was hence to assess the effect of nCPAP on GER in newborn lambs. Methods: Seven newborn lambs, aged 2–3 days, were studied. Continuous esophageal pH-Impedance monitoring (MII-pH) + polysomnography were performed during 6 hours on 2 successive days in 2 randomly assigned conditions, namely spontaneous breathing vs. nCPAP (6 cmH2 O). In addition, a standardized esophageal manometry assessment was performed at the end of each recording. The MII-pH variables were compared in the 2 experimental conditions, as well as without CPAP during the 6 following hours. Results: (1) nCPAP virtually abolished GER [mean(SD) reflux number for 6h = 0.6(1) with nCPAP vs. 9.1(8.6) without nCPAP, p < 0.05]; (2) GER number was also reduced during the 6h-period following nCPAP application (mean 7(8.1) with nCPAP vs. 18(15.8) without nCPAP, p < 0.05); (3) no differences were observed for intragastric pressure, basal esophageal body pressure and lower esophageal sphincter pressure. Conclusion: Nasal CPAP inhibits GER in the newborn lamb. Besides explaining part of the positive effect of nCPAP in apneas of prematurity, our observations suggest the intriguing possibility that nCPAP would be efficient to treat severe GER in newborns. Supported by the Canada Research Chair in Neonatal Respiratory Physiology. F10-10-162 Can airway size relative to lung volume (dysynapsis ratio) predict aerobic capacity in children with congenital heart disease? M.S. Alcaneses-Ofek, D. Vilozni, R. Reuveny, U. Katz, O. Efrati, G. Dubnov-Raz. Chaim Sheba Medical Center Pediatrics, Ramat Gan, Israel Small airway size relative to lung volume (dysynapsis) is believed to influence aerobic capacity. Children with congenital heart disease (CHD) tend to have a decreased aerobic capacity independent of ventilatory limitation (FEV1 = normal). The dysynapsis ratio (FEF25–75 /FVC), associated with airflow limitation, has not been considered in this aspect. The study aim was to examine if the dysynapsis ratio is correlated with aerobic capacity in children with CHD. Methods: Thirty-two children with CHD and 35 normal controls underwent symptom-limited cardiopulmonary testing (CPET) in our institution. PFT was done prior to CPET and results were analyzed. The dysynapsis ratio was calculated as resting FEF25–75 /FVC. Results: CHD patients and controls did not differ in age (13.8±2.7 vs. 13.5±2.5, p = 0.59) or sex distribution (65% males in both groups). Fifty-nine percent (59%) of CHD patients had reduced peak VO2 values (<85% predicted) compared with 23% of controls (p = 0.003). There were significant differences between CHD and controls in peak work rate, VO2 max, O2 pulse, peak ventilation (VE), and the VE/VCO2 slope. There were no significant differences in the anaerobic threshold and pulmonary function tests, including FVC,
Oral Presentations / Paediatric Respiratory Reviews 14S2 (2013) S1–S53
F07-10-1 Quantitative evaluation of the ventilatory response to CO2 in congenital central hypoventilation syndrome Y. Yamada, H. Hasegawa, N. Henmi, S. Tsuruta, Y. Miyoshi, J. Mutou, M. Wasa. Tokyo Women’s Medical University Medical Center East Division of Neonatal Intensive Care, Tokyo, Japan Introduction: Congenital central hypoventilation syndrome (CCHS) is a disorder of the respiratory center at medulla oblongata. Responsiveness of the respiratory center is measured by relating the increase in minute ventilation induced by an increase in inhaled CO2 , known as the Ventilatory Response to CO2 (VR CO2 ). The VR CO2 is useful because it can be evaluated quantitatively. We measured the VR CO2 in CCHS and compared the results with normal children. Method: Records of VR CO2 in 6 children with CCHS between January 1989 and December 2012 were reviewed. Demographic data, time of diagnosis and type of PHOX2B gene abnormality were analyzed. The VR CO2 was measured using a pulmonary function measuring system made by Aivision Japan and Read’s rebreathing technique in which a mixture of 95% O2 and 5% CO2 was inhaled in a closed circuit. Result: The VR CO2 was measured 7 times. Five measurements were taken in infancy, others in adolescence. The average VR CO2 was 0.037 ml/mm2 /min/mmHg (−0.035 to 0.013). It was extremely low compared with normal children (0.64±0.23) at our institution. In a child with repeated measurements at 5 months and 18 years of age, the VR CO2 did not improve. There was no correlation between the VR CO2 , type of PHOX2B gene abnormality, and time of diagnosis. Conclusion: These data demonstrate that the VR CO2 in CCHS is extremely low compared with normal children and does not improve with age. Therefore, the VR CO2 is very useful in the diagnosis of CCHS. F08-14-35 Clinical, morphological and functional features of primary ciliary dyskinesia children in southeast Spain M.T. Romero1 , C. Carda2 , J. Milara3 , M. Armengot4 , A. Escribano5 . 1 Hospital de Denia. Pediatric Pulmonology, Alicante, Spain; 2 Valencia University, Department of Pathology, Valencia, Spain; 3 General and University Hospital. Department of Pharmacology.Valencia University, Research Unit, Valencia, Spain; 4 General and University Hospital. Department of Surgery. Valencia University, Primary Ciliary Dyskinesia Unit. ENT Department, Valencia, Spain; 5 University Clinical Hospital. Valencia University. Pediatric Pulmonology, Valencia, Spain Background: Primary Ciliary Dyskinesia (PCD) is a clinically uniform entity. However, cilia motility and structure can vary among patients, making diagnosis difficult. Diagnosis is based on the study of the ciliary motility (frequency and beat patern) by highresolution digital high-speed video (DHSV), combined with ciliary ultrastructure by electronic microscopy (EM). Objectives: (1) To set demographic and clinical features of PCD children in southeast Spain. (2) To study the concordance between morphological (EM) and functional (DHSV) findings. Methods: Descriptive-retrospective study of PCD children diagnosed by DHSV (2000–2012). Data collected: gender, age at diagnosis, situs inversus, family history, onset of symptoms, clinical features, EM and ciliary function. Results: Forty-seven children (0–16 years, 51% male), 38.3% situs inversus. Medium age at diagnosis 6 years. Family history in 34%. Onset of symptoms mainly at birth with mild neonatal distress (68%). Clinical evolution: chronic wet cough and rhinorrhea (95.7%); recurrent pneumonia (72.3%); otitis (46.8%); sinusitis (34.8%); asthma (21.3%). Almost 60% developed bronchiectasis confirmed on CT scan. DHSV was normal in 8 of 17 patients in whom diagnosis was previously made according only to EM (47%). Moreover, the EM was normal in 21% of the PCD patients confirmed by DHSV. The most common finding was absence of dynein (95.4%: 57% total vs 43% partial).
Conclusions: (1) The diseases from lower airways are more prevalent than upper ones in PCD children. (2) The diagnosis based only in EM has false positives and negatives, so ciliary motility study should be considered as gold standard for diagnosis. F09-14-129 Nasal continuous positive airway pressure (nCPAP) decreases gastroesophageal reflux in newborn lambs D. Djeddi, D. Cantin, S. Samson, H. Tian, J.-P. Praud. Centre Hospitalier Universitaire de Sherbrooke, Department of Pediatrics and Physiology, Sherbrooke, Canada Nasal CPAP has been shown to decrease gastroesophageal reflux (GER) in adult humans. Though both GER and the use of nCPAP are very frequent in newborns, the effect of nCPAP on GER is unknown in newborns. We recently showed that the newborn lamb is a unique model to study neonatal GER (Djeddi D, J Pediatr Gastroenterol Nutr 2012). Our aim was hence to assess the effect of nCPAP on GER in newborn lambs. Methods: Seven newborn lambs, aged 2–3 days, were studied. Continuous esophageal pH-Impedance monitoring (MII-pH) + polysomnography were performed during 6 hours on 2 successive days in 2 randomly assigned conditions, namely spontaneous breathing vs. nCPAP (6 cmH2 O). In addition, a standardized esophageal manometry assessment was performed at the end of each recording. The MII-pH variables were compared in the 2 experimental conditions, as well as without CPAP during the 6 following hours. Results: (1) nCPAP virtually abolished GER [mean(SD) reflux number for 6h = 0.6(1) with nCPAP vs. 9.1(8.6) without nCPAP, p < 0.05]; (2) GER number was also reduced during the 6h-period following nCPAP application (mean 7(8.1) with nCPAP vs. 18(15.8) without nCPAP, p < 0.05); (3) no differences were observed for intragastric pressure, basal esophageal body pressure and lower esophageal sphincter pressure. Conclusion: Nasal CPAP inhibits GER in the newborn lamb. Besides explaining part of the positive effect of nCPAP in apneas of prematurity, our observations suggest the intriguing possibility that nCPAP would be efficient to treat severe GER in newborns. Supported by the Canada Research Chair in Neonatal Respiratory Physiology. F10-10-162 Can airway size relative to lung volume (dysynapsis ratio) predict aerobic capacity in children with congenital heart disease? M.S. Alcaneses-Ofek, D. Vilozni, R. Reuveny, U. Katz, O. Efrati, G. Dubnov-Raz. Chaim Sheba Medical Center Pediatrics, Ramat Gan, Israel Small airway size relative to lung volume (dysynapsis) is believed to influence aerobic capacity. Children with congenital heart disease (CHD) tend to have a decreased aerobic capacity independent of ventilatory limitation (FEV1 = normal). The dysynapsis ratio (FEF25–75 /FVC), associated with airflow limitation, has not been considered in this aspect. The study aim was to examine if the dysynapsis ratio is correlated with aerobic capacity in children with CHD. Methods: Thirty-two children with CHD and 35 normal controls underwent symptom-limited cardiopulmonary testing (CPET) in our institution. PFT was done prior to CPET and results were analyzed. The dysynapsis ratio was calculated as resting FEF25–75 /FVC. Results: CHD patients and controls did not differ in age (13.8±2.7 vs. 13.5±2.5, p = 0.59) or sex distribution (65% males in both groups). Fifty-nine percent (59%) of CHD patients had reduced peak VO2 values (<85% predicted) compared with 23% of controls (p = 0.003). There were significant differences between CHD and controls in peak work rate, VO2 max, O2 pulse, peak ventilation (VE), and the VE/VCO2 slope. There were no significant differences in the anaerobic threshold and pulmonary function tests, including FVC,