Publications by authors named "Jeffrey Gelblum"

Article Synopsis
  • - The prevalence of hereditary transthyretin amyloidosis (ATTRv) in the U.S. is very low, about 1 in 100,000, but polyneuropathies are common and difficult to manage, leading to a focus on symptomatic treatment and understanding the underlying causes of these conditions.
  • - A study conducted with participants diagnosed with idiopathic polyneuropathy involved genetic analysis of 134 individuals to identify possible hereditary factors contributing to their neuropathy.
  • - Results indicated that over 38% of participants had genetic alterations linked to various inherited disorders, with specific pathogenic changes identified in some individuals, suggesting a potential genetic basis for their polyneuropathy symptoms.
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In response to a change in posture from supine or sitting to standing, autonomic reflexes normally maintain blood pressure (BP) by selective increases in arteriovenous resistance and by increased cardiac output, ensuring continued perfusion of the central nervous system. In neurogenic orthostatic hypotension (NOH), inadequate vasoconstriction and cardiac output cause BP to drop excessively, resulting in inadequate perfusion, with predictable symptoms such as dizziness, lightheadedness and falls. The condition may represent a central failure of baroreceptor signals to modulate cardiovascular function, a peripheral failure of norepinephrine release from cardiovascular sympathetic nerve endings, or both.

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