RESUMEN
Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis. These diseases are characterized as cerebral lesions with characteristic demyelinating patterns which can be used as differentiating tools. In this review, we talk about these MRI study findings for each leukodystrophy, associated genetics, blood work that can help in differentiation, emerging diagnostics, and a follow-up imaging strategy. The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe's disease, Pelizaeus-Merzbacher disease, Alexander's disease, Canavan disease, and Aicardi-Goutières Syndrome.
Asunto(s)
Adrenoleucodistrofia , Leucodistrofia de Células Globoides , Leucodistrofia Metacromática , Enfermedades Neurodegenerativas , Enfermedad de Pelizaeus-Merzbacher , Humanos , Leucodistrofia Metacromática/diagnóstico por imagen , Leucodistrofia Metacromática/patología , Leucodistrofia de Células Globoides/diagnóstico por imagen , Leucodistrofia de Células Globoides/patología , Adrenoleucodistrofia/diagnóstico por imagen , Adrenoleucodistrofia/genéticaRESUMEN
Orphan diseases are rare diseases that affect less than 200000 individuals within the United States. Most orphan diseases are of neurologic and genetic origin. With the current advances in technology, more funding has been devoted to developing therapeutic agents for patients with these conditions. In our review, we highlight emerging options for patients with neurologic orphan diseases, specifically including diseases resulting in muscular deterioration, epilepsy, seizures, neurodegenerative movement disorders, inhibited cognitive development, neuron deterioration, and tumors. After extensive literature review, gene therapy offers a promising route for the treatment of neurologic orphan diseases. The use of clustered regularly interspaced palindromic repeats/Cas9 has demonstrated positive results in experiments investigating its role in several diseases. Additionally, the use of adeno-associated viral vectors has shown improvement in survival, motor function, and developmental milestones, while also demonstrating reversal of sensory ataxia and cardiomyopathy in Friedreich ataxia patients. Antisense oligonucleotides have also been used in some neurologic orphan diseases with positive outcomes. Mammalian target of rapamycin inhibitors are currently being investigated and have reduced abnormal cell growth, proliferation, and angiogenesis. Emerging innovations and the role of genetic treatments open a new window of opportunity for the treatment of neurologic orphan diseases.
RESUMEN
The glymphatic system is a newly discovered waste-clearing system that is analogous to the lymphatic system in our central nervous system. Furthermore, disruption in the glymphatic system has also been associated with many neurodegenerative disorders (e.g., Alzheimer's disease), traumatic brain injury, and subarachnoid hemorrhage. Thus, understanding the function and structure of this system can play a key role in researching the progression and prognoses of these diseases. In this review article, we discuss the current ways to map the glymphatic system and address the advances being made in preclinical mapping. As mentioned, the concept of the glymphatic system is relatively new, and thus, more research needs to be conducted in order to therapeutically intervene via this system.
RESUMEN
BACKGROUND: The United States is combating an opioid epidemic. Orthopedic surgeons are the third highest opioid prescribers and therefore have an opportunity and obligation to assist in the efforts to reduce opioid use and abuse. In this article, we evaluate risk factors for patients requiring an opioid refill after primary total knee arthroplasty, with the goal to reduce opioid prescriptions for those patients at low risk of requiring a refill in order to reduce the amount of unused medication. METHODS: We retrospectively reviewed narcotic-naïve patients who underwent total knee arthroplasty from December 2017 to May 2018. We performed multivariable analysis on demographics and preoperative, operative, and postoperative characteristics to determine risk factors for requiring a prescription refill following hospital discharge. RESULTS: One-hundred fifty-seven patients were included in the analysis. Sixty percent of patients required a prescription refill. Risk factors included younger age (P = .003) and increased pain on postoperative day one (P < .001). The amount of narcotic medication given at discharge did not independently affect the refill rate (P = .21). CONCLUSION: There is strong evidence that elderly patients and those with good pain control on postoperative day 1 are at a lower risk of requiring a narcotic refill postoperatively. With this information, physicians may begin to tailor narcotic prescriptions based on patient risk factors for requiring a prescription refill rather than provide patients with the same number of pills for a given surgery in an effort to reduce unused narcotic medication.