BACKGROUND: Children with skeletal dysplasia (SD) often have pulmonary disease, which can be life threatening. In clinical practice, chest wall and formal respiratory function tests are difficult to perform owing to the small size and cooperation. The objective of this study was to demonstrate distinct thoracopulmonary function patterns in children with SD. METHODS: We conducted a retrospective study reviewing pulmonary function tests from 17 patients with the diagnosis of SD. Three subgroups were studied: Morquio syndrome (MS), metatropic-spondylocostal dysplasia (MSD), and unspecified skeletal dysplasias (SDU). Rib cage contribution to tidal volume excursions (%RC), phase angle (Phtheta), phase relation during total breath (PhRTB), respiratory resistance (Rrs(5-35) Hz), respiratory reactance (Xrs(5-35) Hz), resonant frequency, and their frequency-dependency were analyzed. Values were age-matched and height-matched to reference values of healthy subjects. RESULTS: There was a decrease in %RC and an increase in PhRTB (P < 0.05) in the SD group. %RC differed between subgroups [MS: 46.4 +/- 1.8% SE, MSD: 18.4 +/- 2.6% SE, SDU: 27.5 +/- 5.2% SE (P < 0.05)]; Phtheta was within reference values only in MS, which exhibited a decrease in Xrs at 5 Hz (P < 0.05) and an increase in Rrs independent of the frequency. SDU showed a decrease in Xrs at 35 Hz (P < 0.05), no differences were found in Rrs. In MS, a correlation was found between RC and Rrs at all frequencies (r = -0.98, P < 0.01) and between Xrs(5-10) and Phtheta (r = -0.93, P < 0.05). CONCLUSIONS: Thoracoabdominal dysfunction was associated with altered chest wall reactance at high frequencies in a subgroup of SD patients with abnormal lung reactance and central airway involvement in MS.
BACKGROUND:Children with skeletal dysplasia (SD) often have pulmonary disease, which can be life threatening. In clinical practice, chest wall and formal respiratory function tests are difficult to perform owing to the small size and cooperation. The objective of this study was to demonstrate distinct thoracopulmonary function patterns in children with SD. METHODS: We conducted a retrospective study reviewing pulmonary function tests from 17 patients with the diagnosis of SD. Three subgroups were studied: Morquio syndrome (MS), metatropic-spondylocostal dysplasia (MSD), and unspecifiedskeletal dysplasias (SDU). Rib cage contribution to tidal volume excursions (%RC), phase angle (Phtheta), phase relation during total breath (PhRTB), respiratory resistance (Rrs(5-35) Hz), respiratory reactance (Xrs(5-35) Hz), resonant frequency, and their frequency-dependency were analyzed. Values were age-matched and height-matched to reference values of healthy subjects. RESULTS: There was a decrease in %RC and an increase in PhRTB (P < 0.05) in the SD group. %RC differed between subgroups [MS: 46.4 +/- 1.8% SE, MSD: 18.4 +/- 2.6% SE, SDU: 27.5 +/- 5.2% SE (P < 0.05)]; Phtheta was within reference values only in MS, which exhibited a decrease in Xrs at 5 Hz (P < 0.05) and an increase in Rrs independent of the frequency. SDU showed a decrease in Xrs at 35 Hz (P < 0.05), no differences were found in Rrs. In MS, a correlation was found between RC and Rrs at all frequencies (r = -0.98, P < 0.01) and between Xrs(5-10) and Phtheta (r = -0.93, P < 0.05). CONCLUSIONS:Thoracoabdominal dysfunction was associated with altered chest wall reactance at high frequencies in a subgroup of SDpatients with abnormal lung reactance and central airway involvement in MS.
Authors: Shaukat Khan; Carlos J Alméciga-Díaz; Kazuki Sawamoto; William G Mackenzie; Mary C Theroux; Christian Pizarro; Robert W Mason; Tadao Orii; Shunji Tomatsu Journal: Mol Genet Metab Date: 2016-11-29 Impact factor: 4.797
Authors: Shunji Tomatsu; Lauren W Averill; Kazuki Sawamoto; William G Mackenzie; Michael B Bober; Christian Pizarro; Christopher J Goff; Li Xie; Tadao Orii; Mary Theroux Journal: Mol Genet Metab Date: 2015-09-21 Impact factor: 4.797
Authors: B E de Jongh; R Locke; A Mackley; J Emberger; D Bostick; J Stefano; E Rodriguez; T H Shaffer Journal: J Perinatol Date: 2013-09-26 Impact factor: 2.521
Authors: Elena Rodriguez; Lauren Sakowski; Grace M Hobson; Milena Hirata Armani; Portia A Kreiger; Yan Zhu; Scott A Waldman; Thomas H Shaffer Journal: Pulm Pharmacol Ther Date: 2014-11-04 Impact factor: 3.410
Authors: Shunji Tomatsu; Carlos J Alméciga-Díaz; Adriana M Montaño; Hiromasa Yabe; Akemi Tanaka; Vu Chi Dung; Roberto Giugliani; Francyne Kubaski; Robert W Mason; Eriko Yasuda; Kazuki Sawamoto; William Mackenzie; Yasuyuki Suzuki; Kenji E Orii; Luis A Barrera; William S Sly; Tadao Orii Journal: Mol Genet Metab Date: 2014-12-09 Impact factor: 4.797
Authors: C J Hendriksz; P Harmatz; M Beck; S Jones; T Wood; R Lachman; C G Gravance; T Orii; S Tomatsu Journal: Mol Genet Metab Date: 2013-04-10 Impact factor: 4.797
Authors: Shunji Tomatsu; William G Mackenzie; Mary C Theroux; Robert W Mason; Mihir M Thacker; Thomas H Shaffer; Adriana M Montaño; Daniel Rowan; William Sly; Carlos J Alméciga-Díaz; Luis A Barrera; Yasutsugu Chinen; Eriko Yasuda; Kristen Ruhnke; Yasuyuki Suzuki; Tadao Orii Journal: Res Rep Endocr Disord Date: 2012-12
Authors: Shunji Tomatsu; Kazuki Sawamoto; Tsutomu Shimada; Michael B Bober; Francyne Kubaski; Eriko Yasuda; Robert W Mason; Shaukat Khan; Carlos J Alméciga-Díaz; Luis A Barrera; William G Mackenzie; Tadao Orii Journal: Expert Opin Orphan Drugs Date: 2015-10-29 Impact factor: 0.694