Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration. [PDF]
, 2009 Sudden cardiac death (SCD) is a major cause of premature death in young adults and children in developed countries. Standard forensic autopsy procedures are often unsuccessful in determining the cause of SCD.
Abriel, H. +5 more
core +2 more sources
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, EarlyView.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus [PDF]
, 2019 The association of WW domain-containing oxidoreductase WWOX gene loss of function with central nervous system (CNS) related pathologies is well documented.
Abba, Martín Carlos +11 more
core +2 more sources
‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation
Scientific Reports, 2017 The Gardos channel is a Ca2+ sensitive, K+ selective channel present in several tissues including RBCs, where it is involved in cell volume regulation. Recently, mutations at two different aminoacid residues in KCNN4 have been reported in patients with ...
E. Fermo +15 more
semanticscholar +1 more source
Acta Paediatrica, EarlyView.ABSTRACT Aim An electrocardiogram is commonly recommended in breath‐holding spell management, mainly to rule out long QT syndrome. This retrospective study investigated the risk of long QT syndrome being misdiagnosed as breath‐holding spells in a paediatric population in southern Sweden.
Sanna Hellström Schmidt +3 more
wiley +1 more source
CardiogeneticsBackground: An electrocardiogram (ECG) is an essential and easily available diagnostic test in the management of cardiomyopathies and channelopathies. Different strategies based on ECG have been recommended for general population and athlete screening ...
Mariela Salar-Alcaraz +10 more
doaj +1 more source
Focal neuromyotonia: do I love you? [PDF]
, 2018 We present a rare case of focal neuromyotonia in a 73-year-old woman with a follow up of 5years. The clinical picture showed a fixed contraction of the 3rd and 4th finger of the left hand.
Gantenbein, A. +3 more
core
Network medicine and systems pharmacology approaches to predicting adverse drug effects
British Journal of Pharmacology, EarlyView.Identifying and understanding the relationships between drug intake and adverse effects that can occur due to inadvertent molecular interactions between drugs and targets is a difficult task, especially considering the numerous variables that can influence the onset of such events.
Alessio Funari +2 more
wiley +1 more source
Multiple Regulatory Signals and Components in the Modulation of Bicarbonate Transporters
PharmaceuticsBicarbonate transporters are responsible for the appropriate flux of bicarbonate across the plasma membrane to perform various fundamental cellular functions.
Hyeong Jae Kim, Jeong Hee Hong
doaj +1 more source
Electrical Storms in Brugada Syndrome: Review of Pharmacologic and Ablative Therapeutic Options [PDF]
, 2005 Electrical storm occurring in a patient with the Brugada syndrome is an exceptional but malignant and potentially lethal event. Efficient therapeutic solutions should be known and urgently applied because of the inability of usual antiarrhythmic means in
Haïssaguerre, M, Hocini, M, Maury, P
core +2 more sources