Results 171 to 180 of about 229,616 (309)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell +3 more
wiley +1 more source
Timing of Peri‐Ictal MRI Abnormalities in Status Epilepticus – One Size Does Not Fit All
Annals of Neurology, EarlyView.Objective We aimed to investigate timing of occurrence of peri‐ictal MRI abnormalities – a potential risk biomarker of status epilepticus‐related cerebral injury (t2). Methods This prospective study enrolled adult patients with status epilepticus and acute magnetic resonance imaging (MRI); patients with peri‐ictal MRI abnormalities underwent follow‐up ...
Pilar Bosque Varela +12 more
wiley +1 more source
Predictors of In-Hospital Cardiac Arrest Outcomes: A Single-Center Observational Study. [PDF]
J Clin MedAggou M +14 more
europepmc +1 more source
Annals of Neurology, EarlyView.Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse +16 more
wiley +1 more source
Adrenaline and return of spontaneous circulation during in-hospital cardiac arrest. [PDF]
Resusc PlusNorvik A +7 more
europepmc +1 more source
Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures
Annals of Neurology, EarlyView.Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick +9 more
wiley +1 more source
From armadillos to sloths: Patterns and variations in xenarthran coronary anatomy
The Anatomical Record, EarlyView.Abstract Species of the superorder Xenarthra play a vital ecological role in the Neotropics. Despite their evolutionary significance, anatomical studies on their coronary circulation remain scarce. This study investigated the coronary anatomy of 82 hearts from nine Xenarthra species across the Dasypodidae, Myrmecophagidae, and Bradypodidae.
Wilson Viotto‐Souza +5 more
wiley +1 more source
Prehospital thrombolysis with tenecteplase in out-of-hospital cardiac arrest: a retrospective cohort study. [PDF]
Scand J Trauma Resusc Emerg MedCowley A +4 more
europepmc +1 more source
A phase 2 trial of hydroxychloroquine in individuals at risk for rheumatoid arthritis
Arthritis &Rheumatology, Accepted Article.Background Individuals with serum elevations of anti‐cyclic citrullinated peptide (anti‐CCP) antibodies are at increased risk for future rheumatoid arthritis (RA). No pharmacologic interventions have been approved for the prevention of RA in such ‘at‐risk’ individuals. However, hydroxychloroquine (HCQ) is used without supporting clinical trial evidence.
Kevin D. Deane +33 more
wiley +1 more source