Abstract
Morquio syndrome is a rare disease caused by a disorder in the storage of mucopolysaccharides that affects multiple organs, including musculoskeletal, respiratory, cardiovascular, and digestive systems. Respiratory failure is one of the leading causes of mortality in Morquio patients; thus, respiratory function testing is vital to the management of the disease. An automated respiratory assessment methodology using the pneuRIP device and a machine-learning algorithm was developed. pneuRIP is a noninvasive approach that uses differences between thoracic and abdominal movements (thoracic-abdominal asynchrony) during respiration to assess respiratory status. The technique was evaluated on 17 patients with Morquio (9 females and 8 males) between the ages of 2 and 57 years. The results of the automated technique agreed with the clinical assessment in 16 out of the 17 patients. It was found that the inverse cumulative percentage representation of the time delay between the thorax and abdomen was the most critical variable for accurate evaluation. It was demonstrated that the technique could be successfully used on patients with Morquio who have difficulty breathing with 100% compliance. This technique is highly accurate, portable, noninvasive, and easy to administer, making it suitable for a variety of settings, such as outpatient clinics, at home, and emergency rooms.
Highlights
Morquio syndrome is a rare disorder that occurs in 1 out of 200,000 to 300,000 births [1,2,3]. Individuals with this disorder have a deficiency of a lysosomal enzyme, either N-acetylgalactosamine-6-sulfate sulfatase (GALNS; Morquio A) or β-galactosidase (Morquio B) and cannot break down specific glycosaminoglycans (GAGs)
Cervical decompression/fusion surgery is required to stabilize their cervical region, prevent spinal compression, and avoid paraplegia and possible death. Another common cause of death is respiratory problems including progressive airway narrowing, which is life-threatening with age
This study was approved by the Institutional Review Board (IRB) at Nemours/Alfred I
Summary
Morquio syndrome (technically termed “mucopolysaccharidosis type IV [MPS IV]”) is a rare disorder that occurs in 1 out of 200,000 to 300,000 births [1,2,3] Individuals with this disorder have a deficiency of a lysosomal enzyme, either N-acetylgalactosamine-6-sulfate sulfatase (GALNS; Morquio A) or β-galactosidase (Morquio B) and cannot break down specific glycosaminoglycans (GAGs). Cervical decompression/fusion surgery is required to stabilize their cervical region, prevent spinal compression, and avoid paraplegia and possible death. Another common cause of death is respiratory problems including progressive airway narrowing, which is life-threatening with age. An imbalance of growth, including short neck and stature, adenotonsillar hypertrophy, large mandible, or pectus carinatum, causes respiratory distress and makes intubation and extubation difficult, driving challenges in the anesthetic process during surgeries [4]
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