Publications by authors named "Jon Berner"

Background: Gain of function disturbances in nutrient sensing are likely the largest component in human age-related disease. Mammalian target of rapamycin complex 1 (mTORC1) activity affects health span and longevity. The drugs ketamine and rapamycin are effective against chronic pain and depression, and both affect mTORC1 activity.

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Depression is a disorder with variable presentation. Selecting treatments and dose-finding is, therefore, challenging and time-consuming. In addition, novel antidepressants such as ketamine have sparse optimization evidence.

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Objective: To conduct an Internet patient survey through the National Fibromyalgia & Chronic Pain Association on reactions to the first 100 days following the rescheduling of hydrocodone.

Methods: Face-valid survey questions were created with expert consensus along with repurposed questions used on previous NFMCPA surveys covering domains such as demographics and symptoms. The questionnaire was designed to be administered over the Internet.

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Article Synopsis
  • * A study analyzed the SLC20A2 gene, which is linked to IBGC, involving 218 participants from 29 families to identify genetic mutations contributing to the disease.
  • * The research discovered 12 new mutations and confirmed that SLC20A2 mutations are responsible for about 41% of familial IBGC cases, highlighting the complexity of diagnosing this condition due to its diverse clinical manifestations.
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Our case describes clinical features of two families defined by joint phenotypes: sodium oxybate intolerance and elevated serum acylcarnitines. Oxybate intolerance variably presents as either cervical dystonia or sleep-related eating disorder. Our objective is to identify biological markers which predict a poor response to sodium oxybate as a treatment for disturbed sleep.

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