Spotlight on Leber hereditary optic neuropathy

In this article, Dr. Tanyatuth Padungkiatsagul of Mahidol University discusses Leber hereditary optic neuropathy, a maternally inherited bilateral optic neuropathy that typically affects teenage males with acute vision loss first in one eye and then the other within days or weeks. There are some distinctive changes in the ocular fundus appearance at various stages of the process that make specific diagnosis possible clinically. The etiology involves mutations in the mitochondrial DNA, and penetrance is incomplete. Due to the acute sequential presentation, there is a unique opportunity to study treatments that reduce risk of symptom development. There are active clinical trials underway to study gene therapy and drug therapy.

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Twitter Digest for December 6, 2019

Twitter Digest for December 5, 2019

Spotlight on Presbyosmia

In this article, Dr. Douglas Lanska of the University of Wisconsin School of Medicine and Public Health, the Medical College of Wisconsin, and IM Sechenov First Moscow State Medical University explains the clinical presentation, pathophysiology, diagnostic workup, and management of presbyosmia.

Presbyosmia (literally “elderly olfaction” or “old age olfaction”) is the gradual loss of olfactory abilities that occurs in most people as they grow older. Age-related losses of smell (presbyosmia) are common in the elderly and result from normal aging, certain diseases (especially Parkinson disease and dementia with Lewy bodies), medications, surgical interventions, and prior environmental exposures.

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Twitter Digest for December 4, 2019

Twitter Digest for December 3, 2019

Twitter Digest for December 2, 2019

Spotlight on Myositis and cancer

There is a well-recognized association between cancer and myositis, mainly seen in classic dermatomyositis, amyopathic dermatomyositis, and immune-mediated necrotizing myopathy.

Idiopathic inflammatory myopathies, referred to as “myositis,” can be associated with cancer. Classic dermatomyositis, amyopathic dermatomyositis, and, to lesser extent, polymyositis are the most highly affected myositis phenotypes, whereas immune-mediated necrotizing myopathy has been linked to cancer as a paraneoplastic phenomenon. Cancer-associated myositis is defined as the concomitant presence of the 2 diseases within a 3-year period. However, a paraneoplastic pattern—that is, when cancer abates, myositis disappears and when malignancy recurs, myositis returns—is not always observed.

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Twitter Digest for November 27, 2019

Twitter Digest for November 26, 2019