Respiratory insufficiency in an infant with osteogenesis imperfecta. [PDF]
Osteogenesis imperfecta (OI) is a rare presentation in the pediatric population. Whilst orthopedic manifestations are well-publicised, the multiple respiratory complications and mechanisms of respiratory failure in more severe cases are less well ...
Lim AYL, Kevat A.
europepmc +4 more sources
Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies. [PDF]
Background: Selenoprotein N-related myopathies (SEPN1-RMs) are a subset of congenital myopathies caused by mutations of Selenoprotein N gene (SELENON or SEPN1).
Zhang S+9 more
europepmc +2 more sources
The management of the patient with respiratory insufficiency [PDF]
The management of patients with respiratory insufficiency, using intermittent positive pressure, has been discussed in detail Emphasis has been laid on the underlying physiological problems and on the need for detailed specialized knowledge. The available equipment and methods of use are discussed, together with methods of monitoring assisted ...
R. A Chambers+3 more
openaire +5 more sources
Inhibition of ATR Reverses a Mitochondrial Respiratory Insufficiency. [PDF]
Diseases that affect the mitochondrial electron transport chain (ETC) often manifest as threshold effect disorders, meaning patients only become symptomatic once a certain level of ETC dysfunction is reached.
Borror MB+13 more
europepmc +2 more sources
Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants. [PDF]
Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN) and has been known to be severely life-shortening, mainly due to respiratory ...
Eurich B+5 more
europepmc +2 more sources
Validation of the Arabic Severe Respiratory Insufficiency Questionnaire. [PDF]
Background/objectives Assessment of Health-Related Quality of Life (HRQL) in patients with chronic respiratory insufficiency requiring Home Mechanical Ventilation (HMV) requires a valid measurement tool.
Alawieh MF+5 more
europepmc +2 more sources
BackgroundContinuous monitoring of vital signs has the potential to assist in the recognition of deterioration of patients admitted to the general ward.
van Goor HMR+5 more
europepmc +2 more sources
Gastroplasty for Respiratory Insufficiency of Obesity
Three patients with the obesity hypoventilation syndrome and one patient with the sleep apnea syndrome underwent gastroplasty for weight reduction. A tracheostomy was also performed in the patient with sleep apnea. The PaO2 rose from an average of 51 +/- 9 to 71 +/- 5 torr and the PaCO2 fell from an average of 51 +/- 21 to 41 +/- 6 torr within two to ...
Alice K. Lindeman+4 more
openaire +5 more sources
Lipin1 as a therapeutic target for respiratory insufficiency of duchenne muscular dystrophy. [PDF]
In Duchenne muscular dystrophy (DMD), diaphragm muscle dysfunction results in respiratory insufficiency which is a leading cause of death in patients. Mutations to the dystrophin gene result in myocyte membrane instability, contributing to the structural
Brown A+6 more
europepmc +2 more sources
Respiratory organ.Chronic respiratory insufficiency.
吉良 枝郎
openaire +4 more sources