Articles Tagged With: Genetics
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Biomarker Profiles of Those Living to Age 100 Years
Among 1,224 participants who lived to their 100th birthday, there were higher levels of total cholesterol and iron, and lower levels of glucose, creatinine, uric acid, liver enzymes, and alkaline phosphatase compared with non-centenarians. These differences were seen as early as age 65 years.
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Genetic Evaluation of Hereditary Spastic Paraplegia
Hereditary spastic paraplegia (HSP) refers to a group of rare, clinically heterogenous degenerative neurogenetic disorders resulting in spasticity, gait impairment, and falls as the result of a length-dependent upper motor neuron degeneration. Next-generation sequencing with multigene panels or exome analysis can confirm molecular diagnosis of approximately 30% of HSP patients. Multigene panels can identify the common causative variants, variants on rarely involved genes, and structural rearrangements.
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Pharmacogenetics in Primary Care: An Update
Advancements in the area of personalized medicine and understanding how one’s genetics affect health outcomes is an evolving science. The addition of pharmacogenetic testing to the armamentarium of primary care providers presents an opportunity to improve patient care.
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Rhabdomyolysis Etiology
Rhabdomyolysis can be a life-threatening condition that often triggers a neurology consultation during an investigation for cause. However, in this recent study, the majority of cases (79%) were triggered by external, non-neuromuscular causes, and the others, although suspicious for an intrinsic muscular or genetic cause, rarely had a specific diagnosis confirmed.
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Cognitive Symptoms in Genetic Forms of Parkinson’s Disease May Help in Distinguishing the Various Types
This paper illustrates that, of the confirmed genetic forms of Parkinson’s disease, there are common cognitive and psychiatric features, thus adding to our knowledge of the clinical phenotype of these genetic forms.
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Does Exercise Decrease Incident Depression in a High-Risk Population?
The authors of this large-scale, observational study found that three or more hours weekly of physical activity was associated with a decreased incidence of depression, even in patients with a high genetic risk of depression.
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Does Exercise Decrease Incident Depression in a High-Risk Population?
The authors of this large-scale, observational study found that three or more hours weekly of physical activity was associated with a decreased incidence of depression, even in patients with a high genetic risk of depression.
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Ethical Obligations to Study Participants if Findings Are of Unknown Significance
The average person carries more than 500,000 rare or novel genetic variants, thousands of which might be identified during a genomics research study. The question is whether, and how, people should be told about any of these findings.
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The Latest in Genetic Screening for Gynecologic Malignancies
Genetic testing is changing rapidly. With the advent of more sophisticated genetic mutation panels, it is important that providers of women’s healthcare consider appropriate referral and testing for those women at increased risk of malignancy.
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First-ever Study of Genome Sequencing in the Common Forms of Epilepsy
In the first study with genome sequencing in the common forms of epilepsy, ultra-rare genetic mutations of known epilepsy genes were over-represented in the epilepsy population, compared to controls.