Lipin1 as a therapeutic target for respiratory insufficiency of duchenne muscular dystrophy [PDF]
Frontiers in PhysiologyIn 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
Alexandra Brown +6 more
doaj +3 more sources
An implantable soft robotic ventilator augments inspiration in a pig model of respiratory insufficiency. [PDF]
Nat Biomed Eng, 2023 Severe diaphragm dysfunction can lead to respiratory failure and to the need for permanent mechanical ventilation. Yet permanent tethering to a mechanical ventilator through the mouth or via tracheostomy can hinder a patient’s speech, swallowing ability ...
Hu L +6 more
europepmc +2 more sources
International Validation of the Erasmus Guillain-Barré Syndrome Respiratory Insufficiency Score. [PDF]
Ann Neurol, 2022 This study aimed to validate the Erasmus Guillain–Barré Syndrome Respiratory Insufficiency Score in the International Guillain–Barré Syndrome Outcome Study cohort, and to improve its performance and region‐specificity.
Doets AY +12 more
europepmc +2 more sources
Assessing Symptom Burden and Depression in Subjects With Chronic Respiratory Insufficiency. [PDF]
J Palliat Care, 2022 Objectives: Patients with chronic respiratory insufficiency suffer from advanced disease, but their overall symptom burden is poorly described. We evaluated the symptoms and screening of depression in subjects with chronic respiratory insufficiency by ...
Rantala HA +3 more
europepmc +2 more sources
Low testosterone predicts hypoxemic respiratory insufficiency and mortality in patients with COVID-19 disease: another piece in the COVID puzzle. [PDF]
J Endocrinol Invest, 2022 Hypogonadism was described in high number of male subjects with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. In this study, we investigated whether low testosterone (T) values may influence the clinical presentation and outcome
Vena W +13 more
europepmc +2 more sources
Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies [PDF]
Frontiers in Neurology, 2021 Background: Selenoprotein N-related myopathies (SEPN1-RMs) are a subset of congenital myopathies caused by mutations of Selenoprotein N gene (SELENON or SEPN1).
Shu Zhang +9 more
doaj +2 more sources
Inhibition of ATR Reverses a Mitochondrial Respiratory Insufficiency [PDF]
Cells, 2022 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.
Megan B. Borror +13 more
doaj +2 more sources
Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants [PDF]
Children, 2022 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 ...
Benjamin Eurich +5 more
doaj +2 more sources
Validation of the Arabic Severe Respiratory Insufficiency Questionnaire [PDF]
BMC Pulmonary Medicine, 2021 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.
Marwan F. Alawieh +5 more
doaj +2 more sources
Interactive Journal of Medical Research, 2022 BackgroundContinuous monitoring of vital signs has the potential to assist in the recognition of deterioration of patients admitted to the general ward.
Harriet M R van Goor +5 more
doaj +2 more sources