Lung function in diastrophic dysplasia

Pediatric Pulmonology
Ville RemesAnssi Sovijärvi

Abstract

Diastrophic dysplasia (DD) is a rare skeletal dysplasia characterized by short-limbed short stature, contractures and early degeneration of joints, and spinal deformities such as scoliosis. Mortality is increased in the neonatal period, in part due to tracheo- and bronchomalacia. Additionally, spinal deformities are very rigid, decreasing mobility of the chest cage. The aim of our study was to evaluate lung volumes and airway flow dynamics in patients with DD. A total of 31 patients (12 males, 19 females) underwent a detailed clinical examination measurements of standing height PA-radiography of the spine, flow-volume spirometry, and body plethysmography. The patients were assigned to two groups: children and adolescents (0-18 years, n = 18) and adults (over 18 years, n = 13). The mean spirometric parameters were mostly within the predicted value range, although the variation was wide. At least one abnormally low spirometry parameter was found in 6 (33%) of the children and adolescents and in 7 (54%) of the adults. Mean forced vital capacity (FVC) was 104% (range 48-163%) of predicted values in the children and adolescents and 95% (58-140%) of the adults. Peak expiratory flow (PEF) values were abnormal in 4 (22%) of the childre...Continue Reading

References

Jul 26, 1978·Virchows Archiv. A, Pathological Anatomy and Histology·M ScheckD Daentl
Jul 1, 1979·Pathology·N Berend, G E Marlin
Oct 1, 1978·The Journal of Pediatrics·W A HortonJ G Hall
Aug 30, 1976·Human Genetics·J SprangerJ Herrmann
Jan 1, 1992·The Journal of Arthroplasty·J I PeltonenI Kaitila
May 1, 1992·The Journal of Bone and Joint Surgery. British Volume·S RyöppyI Kaitila
Aug 1, 1991·Spine·M PoussaI Kaitila
Oct 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·J HästbackaA de la Chapelle
Jun 1, 1987·American Journal of Medical Genetics·T R Gollop, A Eigier
Feb 1, 1988·Chest·D C StokesE A Murphy
Nov 1, 1987·The American Review of Respiratory Disease·A S Buist
Jan 1, 1986·Scandinavian Journal of Plastic and Reconstructive Surgery·A RintalaI Kaitila
Oct 1, 1985·Clinical Genetics·K H GustavsonH Jorulf
Dec 1, 1974·Australasian Radiology·K Kozlowski, A Barylak
Jan 1, 1972·Medicine·B A WalkerV A McKusick
Jun 1, 1974·The Journal of Pediatrics·I J KashJ Briner
Feb 1, 1969·Archives of Disease in Childhood·D W WilsonC O Carter
Oct 1, 1971·Archives of Disease in Childhood·G Davies, L Reid
Jul 1, 1984·The Journal of Bone and Joint Surgery. American Volume·V StanescuP Maroteaux
Jul 1, 1983·Prenatal Diagnosis·I KaitilaJ Rapola
Jul 1, 1994·Journal of Neurosurgery·T C Ryken, A H Menezes
Apr 1, 1993·Journal of Medical Genetics·J HästbackaI Kaitila
Apr 1, 1997·The Journal of Pediatrics·O Mäkitie, I Kaitila
Sep 11, 1998·Journal of Medical Genetics·A G HunterC I Scott
Oct 21, 1999·Spine·V RemesJ Peltonen
Jan 21, 2000·Journal of Pediatric Orthopedics·V RemesJ Peltonen

❮ Previous
Next ❯

Citations

Jan 13, 2006·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Jari PeltonenIlkka Helenius
Jan 26, 2007·Nature Clinical Practice. Nephrology·Ilkka HeleniusJari Peltonen
Jan 24, 2006·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·I HeleniusJ Peltonen
Jun 25, 2010·Pediatric Pulmonology·M E RodriguezThomas H Shaffer
Dec 7, 2013·American Journal of Medical Genetics. Part a·Kimberly E DessoffyRichard M Pauli
Jul 9, 2004·Tüberküloz ve toraks·Ateş BaranAdnan Yilmaz
Sep 11, 2019·Pediatric Pulmonology·Johanna SivunenAnssi Ra Sovijärvi
Apr 9, 2004·Journal of Thoracic Imaging·Santiago RestrepoAna Gascue
Mar 11, 2003·Human Genetics·Reijo Norio

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
D CeroniA Kaelin
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society
Juliet Compston
Archives of Otolaryngology--head & Neck Surgery
William O Collins, Sukgi S Choi
© 2022 Meta ULC. All rights reserved