Trending Articles
-
Caregiver burden may result from providing care for patients with chronic illness. It can occur in any of the 43.5 million individuals providing support to midlife and older adults. Caregiver burden is frequently overlooked by clinicians. ⋯ Physicians have a responsibility to recognize caregiver burden. Caregiver assessment and intervention should be tailored to the individual circumstances and contexts in which caregiver burden occurs.
-
Pruritus is a common problem among elderly people and, when severe, causes as much discomfort as chronic pain. Little evidence supports pruritus treatment, limiting therapeutic possibilities and resulting in challenging management problems. ⋯ It is important to evaluate elderly patients for dermatological, systemic, and neurological etiologies of itch. A simple-to-apply diagnostic and therapeutic algorithm can be used. Xerosis, drug reactions, and neuropathy should be considered when evaluating pruritus.
-
To discuss the relationship between the acute cerebral infarction of differently aged population and the variable number tandem repeat polymorphism of endothelial nitric oxide synthase (eNOS) gene. ⋯ The ab genotype of eNOS 4th intron is correlated with the acute cerebral infarction of young and middle-aged Chinese Han population that may involve allelic gene a as an independent risk factor (Tab. 3, Fig. 3, Ref. 13).
-
Orphanet J Rare Dis · May 2020
ReviewPreclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1-RM), a spectrum of rare neuromuscular disorders. In RYR1-RM, intracellular calcium dysregulation, post-translational modifications, and decreased protein expression lead to a heterogenous clinical presentation including proximal muscle weakness, contractures, scoliosis, respiratory insufficiency, and ophthalmoplegia. Preclinical model systems of RYR1-RM and MH have been developed to better understand underlying pathomechanisms and test potential therapeutics. ⋯ Over the past 30 years, there were 262 publications on MH and RYR1-RM preclinical model systems featuring more than 200 unique RYR1 variations tested in a broad range of species. Findings from these studies have set the foundation for therapeutic development for MH and RYR1-RM.