RESUMO
Over the last several decades, opioid diversion, misuse, and over-prescription have run rampant in the United States. Spinal cord stimulation (SCS) has been FDA approved for treatment for a primary indication of neuropathic limb pain that is resistant to more conservative medical therapy. The disorders qualified for treatment include neuropathic, post-surgical, post-amputation, osteodegenerative, and pain related to vascular disease. Some of the most frequently cited conditions for treatment of SCS include failed back surgery syndrome, complex regional pain syndrome (CRPS) Type I and Type II, and post-herpetic neuralgias. Developments in SCS systems have led to the differentiation between the delivered electromechanical waveform patterns, including tonic, burst, and high-frequency. Burst SCS mitigates traditional paresthesia due to expedited action potential and offers improved pain relief. Burst SCS has been shown in available studies to be non-inferior to the traditional SCS, which can cause pain paresthesia in patients who already have chronic pain. Burst SCS does not seem to cause or need the paresthesia seen in traditional SCS, making SCS not tolerable to patients. Moreover, some studies suggest that burst SCS may decrease opioid consumption in patients with chronic pain. This can make burst SCS an extremely useful tool in the battle against chronic pain and the raging opioid epidemic. As of now, more research needs to be performed to further delineate the effectiveness and long-term safety of this device.
RESUMO
Hypoactive sexual desire disorder (HSDD) is a persistent deficiency or absence of sexual fantasies and desire resulting in significant distress or interpersonal difficulty. Women with this disorder may display a lack of motivation for sexual activity, reduced responsiveness to erotic cues, a loss of interest during sexual activity, and avoidance of situations that could lead to sexual activity. The pathophysiology of HSDD is thought to be centered around inhibitory and excitatory hormones, neurotransmitters, and specific brain anatomy. Due to the multifactorial nature of HSDD, treatment can be complex and must attempt to target the biological and psychosocial aspects of the disorder. Bremelanotide is a melanocortin receptor agonist and has been recently approved by the FDA to treat HSDD. Bremelanotide is administered intranasally or as a subcutaneous injection. The recommended dosage of bremelanotide is 1.75 mg injected subcutaneously in the abdomen or thigh at least 45 min before sexual activity. Studies showed improvements in desire, arousal, and orgasm scores when 1.75 mg of bremelanotide was administered before sexual activity compared to a placebo. Bremelanotide is a promising way to treat HSDD.
RESUMO
A compendium is presented of inherited monogenic disorders that have a prevalence of >1:20,000 in the human population, along with their causative genes and encoded proteins. "Simple" monogenic diseases are those for which the clinical features are caused by mutations impacting a single gene, usually in a manner that alters the sequence of the encoded protein. Of course, for a given "monogenic disorder", there is sometimes more than one potential disease gene, mutations in any one of which is sufficient to cause phenotypes of that disorder. Disease-causing mutations for monogenic disorders are usually passed on from generation to generation in a Mendelian fashion, and originate from spontaneous (de novo) germline founder mutations. In the past monogenic disorders have often been written off as targets for drug discovery because they sometimes are assumed to be rare disorders, for which the meager projected financial payoff of drug discovery and development has discouraged investment. However, not all monogenic diseases are rare. Here, we report that that currently available data identifies 72 disorders with a prevalence of at least 1 in 20,000 humans. For each, we tabulate the gene(s) for which mutations cause the spectrum of phenotypes associated with that disorder. We also identify the gene and protein that most commonly causes each disease. 34 of these disorders are caused exclusively by mutations in only a single gene and encoded protein.
