Results 1 to 10 of about 197,942 (309)

Lipin1 as a therapeutic target for respiratory insufficiency of duchenne muscular dystrophy [PDF]

Frontiers in Physiology
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
Alexandra Brown, Brooklyn Morris, John Karanja Kamau, Ryan J. Rakoczy, Brian N. Finck, Christopher N. Wyatt, Hongmei Ren   +6 more
doaj   +3 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, Lin Lei, Zhirong Fan, Shengyao Su, Jianying Duo, Qinrong Luan, Yan Lu, Li Di, Min Wang, Yuwei Da   +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, Milena Girotti, Adwitiya Kar, Meghan K. Cain, Xiaoli Gao, Vivian L. MacKay, Brent Herron, Shylesh Bhaskaran, Sandra Becerra, Nathan Novy, Natascia Ventura, Thomas E. Johnson, Brian K. Kennedy, Shane L. Rea   +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, Catharina Nitsche, Margot Lau, Britta Hanker, Juliane Spiegler, Guido Stichtenoth   +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, Rania N. Bzeih, Mohamad F. El-Khatib, Abla M. Sibai, Lilian A. Ghandour, Salah M. Zeineldine   +5 more
doaj   +2 more sources

Association of Continuously Measured Vital Signs With Respiratory Insufficiency in Hospitalized COVID-19 Patients: Retrospective Cohort Study

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, Lisette M Vernooij, Martine J M Breteler, Cor J Kalkman, Karin A H Kaasjager, Kim van Loon   +5 more
doaj   +2 more sources

Respiratory insufficiency in an infant with osteogenesis imperfecta [PDF]

Respiratory Medicine Case Reports
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 ...
Adeline Yi Ling Lim, Ajay Kevat
doaj   +2 more sources

Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

Orphanet Journal of Rare Diseases, 2019
Background TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondrial depletion ...
Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas   +23 more
doaj   +3 more sources

Ketamine-Dexmedetomidine Sedation in the Management of a Child With Generalized Refractory Myasthenia Gravis and Respiratory Insufficiency: Case Report. [PDF]

Cureus, 2023
Grenho BV, Carioca F.
europepmc   +3 more sources

Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency. [PDF]

Clin Genet
Watts LM, Kinning E, Latner DR, Johnston M, Patrick-Esteve J, Cooper GM, Twigg SRF, Pagnamenta AT, Taylor JC.   +8 more
europepmc   +3 more sources