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Leigh Syndrome: Insights and Implications from Advances in Next-generation Sequencing
Leigh syndrome is a genetically heterogeneous neurodevelopmental disorder. The application of next-generation sequencing has enabled a deeper understanding of the diverse nature of the genetic and molecular etiologies that give rise to the shared clinical phenotype of Leigh syndrome.
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Differentiating Sarcoidosis from Neuromyelitis Optic in Patients with Transverse Myelitis
Based on a retrospective analysis of 71 patients with an neuromyelitis optica spectrum disorder (n = 37) or sarcoidosis (n = 34), whose initial presentation was longitudinally extensive transverse myelitis (≥ 3 vertebral segments), the authors report clinical, radiologic, and laboratory findings that help distinguish one from the other.
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Carpal Tunnel Syndrome: Everything You Want To Know, and More
Carpal tunnel syndrome can be reliably diagnosed, only with nerve conduction studies, and this test should be performed before any invasive treatments are initiated.
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Relationship Between Spikes and Seizures Using an Implantable Intracranial Detection Device
The authors report the preliminary findings for an implantable ambulatory intracranial recording device for seizure detection in 15 subjects. One of the primary findings was that spike rate significantly changed prior to seizures in nine of 15 subjects. Six of these subjects showed a significant decrease in spiking prior to ictal onset, whereas the remaining three showed a significant increase in spiking and these three subjects had the best seizure prediction results.
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Clinical Characterization of Inherited Erythromelalgia Due to Sodium Channel Mutations
A detailed non-interventional clinical study of patients with inherited erythromelalgia who carry gain-of-function mutations of voltage-gated sodium channel Nav1.7 further characterized pain phenotypes in this disorder and showed wide variability of pain symptoms.
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Infectious Disease Alert Updates
TB Quant Problematic in Leprosy; Trapping Flu Particles; An Old Scourge Revisited: Congenital Syphilis
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Tenofovir Alafenamide vs. Tenofovir Disoproxil Fumarate
The FDA has approved a new prodrug of tenofovir. Tenofovir alafenamide has replaced the tenofovir disoproxil fumarate component of two commonly used drug combinations for HIV-1 infection.
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Malaria in the United States
The number of reported cases of malaria in the United States in 2013 increased slightly over the previous year, while the 10 reported deaths were the most since 2001.
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Urban Yellow Fever in Angola: Lessons from a Large Outbreak
A large urban outbreak of yellow fever in Angola illustrates the obstacles to rapid control of this vaccine-preventable disease.
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Adverse Fetal Outcomes of Dengue During Pregnancy
During pregnancy, dengue infection, especially with symptomatic illness, is associated with increased risks of miscarriage, stillbirth, and low birthweight.