Case report: An EEG captured case of migralepsy/migraine aura-triggered seizures.

Introduction: Migraine and epilepsy are common chronic neurological disorders presenting with paroxysmal attacks of transient cerebral dysfunction, followed by subsequent return to baseline between episodes. The term "migralepsy" has been proposed to define migraine-triggered epileptic seizures classified by the ICHD-III as a complication of migraine with an aura. Case: A 55-year-old man with a 30-year history of migraine without aura presented with a new onset left parietal pain accompanied by visual disturbances occurring up to 20 times per day. His visual distortions included kaleidoscopic vision, flashes of shadows, and a right superior quadrantanopia lasting 20 min. He described discrete 2-min episodes of scintillating scotomas in his right visual field. Ictal EEG demonstrated a left occipital onset focal aware seizure with his clinical symptoms. The patient was started on valproic Acid and has remained asymptomatic. Discussion: The diagnostic criteria as set out by the ICHD-III for migralepsy and other syndromes with migrainous and ictal features remain confusing for practitioners as there is much overlap in clinical manifestations of these entities. EEG should be obtained when ictal features are noted among patients presenting with headache.

Diagnosis of orthostatic tremor using smartphone accelerometry.

BACKGROUND: Primary orthostatic tremor (OT) is a rare movement disorder characterized by a 13-18 Hz leg tremor, which arises when standing and is relieved by walking/sitting. Those affected generally do not fall, but experience fear of falling, lessened by ambulation. Because of its low amplitude, the tremor is not readily visible, and diagnosis requires confirmation with surface electromyography (sEMG). Recently, applications using the accelerometer feature of smartphones have been used to detect and quantify tremors, including OT, though the accuracy of smartphone accelerometry (SPA) in diagnosing OT is unknown. METHODS: We completed SPA in consecutive adults (18+ years), who presented to our neurology clinic with either subjective leg shakiness upon standing or unsteadiness when standing that lessened with ambulation, which comprised 59 of 2578 patients. We assessed tremor using the StudyMyTremor application on an iPhone 6 s adhered with tape to the patient's tibialis anterior. Surface electromyography was completed on the same muscle. The primary outcome of this study was to determine SPA's sensitivity and specificity in detecting OT compared with surface electromyography. RESULTS: Fifty-nine patients with the following diagnoses were included: OT (6), Parkinson's disease, Hereditary Spastic Paraplegia, orthostatic hypotension, essential tremor, spinal cerebellar ataxia, sensory ataxia and functional movement disorder. Smartphone accelerometry detected a 13-18 Hz tremor in 5 of 6 patients diagnosed with OT by sEMG with no false positives in other conditions, yielding a sensitivity of 83%, specificity of 100% in the cohort we studied. CONCLUSIONS: Though a larger sample size is desirable, preliminary data suggest that smartphone accelerometry is an alternative to surface electromyography in diagnosing OT.

Limb Salvage Resection of Massive Dedifferentiated Thigh Liposarcoma in a Patient Lost to Follow-Up.

Dedifferentiated liposarcoma (DDL) is a rare soft tissue tumor that represents a non-lipogenic progression of well-differentiated liposarcoma (WDL). Unlike WDL, DDL has the propensity for metastasis and is associated with an increased incidence of local recurrence. For DDL of the extremities that is resectable with acceptable functional outcomes, treatment includes primary surgical resection with negative margins. Although rare due to advances in reconstructive techniques, amputation for DDL of the extremities should be considered in which appropriate tumor resection cannot be performed without adequate preservation of limb function. We present the clinical progression of a patient with a large DDL of the right thigh who was initially lost to follow-up, but ultimately underwent delayed definitive therapy with the intent for limb salvage. This case illustrates the importance of assessing neurovascular, osseous, and soft tissue involvement to properly predict and preserve limb function while achieving adequate tumor resection.

Atypical presentation of Lyme neuroborreliosis related meningitis and radiculitis.

Lyme disease related central and peripheral nervous system manifestations can occur in isolation or together. Radiculitis or inflammation of the nerve root can be seen 3-5% of the time in acute neuroborreliosis affecting the PNS with a typical presentation and meningitis affecting the CNS is usually seen 1% of the time. The appropriate diagnosis and management of neuroborelliosis can be challenging and require meticulous medical approaches. Herein we present a unique case of Lyme disease with neurologic manifestations including both radiculitis and meningitis due to its atypical and challenging clinical presentation and management with updated literature review.

Treatment of volumetric muscle loss in mice using nanofibrillar scaffolds enhances vascular organization and integration.

Traumatic skeletal muscle injuries cause irreversible tissue damage and impaired revascularization. Engineered muscle is promising for enhancing tissue revascularization and regeneration in injured muscle. Here we fabricated engineered skeletal muscle composed of myotubes interspersed with vascular endothelial cells using spatially patterned scaffolds that induce aligned cellular organization, and then assessed their therapeutic benefit for treatment of murine volumetric muscle loss. Murine skeletal myoblasts co-cultured with endothelial cells in aligned nanofibrillar scaffolds form endothelialized and aligned muscle with longer myotubes, more synchronized contractility, and more abundant secretion of angiogenic cytokines, compared to endothelialized engineered muscle formed from randomly-oriented scaffolds. Treatment of traumatically injured muscle with endothelialized and aligned skeletal muscle promotes the formation of highly organized myofibers and microvasculature, along with greater vascular perfusion, compared to treatment of muscle derived from randomly-oriented scaffolds. This work demonstrates the potential of endothelialized and aligned engineered skeletal muscle to promote vascular regeneration following transplantation.

Knockdown of DNA methyltransferase 3a alters gene expression and inhibits function of embryonic cardiomyocytes.

We previously found that in utero caffeine exposure causes down-regulation of DNA methyltransferases (DNMTs) in embryonic heart and results in impaired cardiac function in adulthood. To assess the role of DNMTs in these events, we investigated the effects of reduced DNMT expression on embryonic cardiomyocytes. siRNAs were used to knock down individual DNMT expression in primary cultures of mouse embryonic cardiomyocytes. Immunofluorescence staining was conducted to evaluate cell morphology. A video-based imaging assay and multielectrode array were used to assess cardiomyocyte contractility and electrophysiology, respectively. RNA-Seq and multiplex bisulfite sequencing were performed to examine gene expression and promoter methylation, respectively. At 72 h after transfection, reduced DNMT3a expression, but not DNMT1 or -3b, disrupted sarcomere assembly and decreased beating frequency, contractile movement, amplitude of field action potential, and cytosolic calcium signaling of cardiomyocytes. RNA-Seq analysis revealed that the DNMT3a-deficient cells had deactivated gene networks involved in calcium, endothelin-1, renin-angiotensin, and cardiac ß-adrenergic receptor signaling, which were not inhibited by DNMT3b siRNA. Moreover, decreased methylation levels were found in the promoters of Myh7, Myh7b, Tnni3, and Tnnt2, consistent with the up-regulation of these genes by DNMT3a siRNA. These data show that DNMT3a plays an important role in regulating embryonic cardiomyocyte gene expression, morphology and function.-Fang, X., Poulsen, R. R., Wang-Hu, J., Shi, O., Calvo, N. S., Simmons, C. S., Rivkees, S. A., Wendler, C. C. Knockdown of DNA methyltransferase 3a alters gene expression and inhibits function of embryonic cardiomyocytes.