Ghezzi, L., Carandini, T., Arighi, A., Fenoglio, C., Arcaro, M., De Riz, M., Pietroboni, A. M., Fumagalli, G. G., Basilico, P., Calvi, A., Scarioni, M., Colombi, A., Serpente, M., Marotta, G., Benti, R., Scarpini, E., Galimberti, D.

Ghezzi, L., Carandini, T., Arighi, A., Fenoglio, C., Arcaro, M., De Riz, M., Pietroboni, A. M., Fumagalli, G. G., Basilico, P., Calvi, A., Scarioni, M., Colombi, A., Serpente, M., Marotta, G., Benti, R., Scarpini, E., Galimberti, D. November 16, 2017

Nasu-Hakola disease (NHD), also known as polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy, is an autosomal recessive disorder characterized by dementia and multifocal bone cysts. NHD is associated with the loss-of-function mutation of triggering receptor expressed on myeloid cells-2 gene (TREM2), leading to an aberrant form of TREM2.… Read More...

Stemmerik, M. G., Madsen, K. L., Laforet, P., Buch, A. E., Vissing, J. November 16, 2017

Objective:

To study fat and carbohydrate metabolism during exercise in patients with glycogenin-1 (GYG1) deficiency, and to study whether IV glucose supplementation can alleviate exercise intolerance in these patients.

Methods:

This is a case-control study with 4 patients with GYG1 deficiency and 4 healthy controls.… Read More...

Pisa, M., Guerrieri, S., Di Maggio, G., Medaglini, S., Moiola, L., Martinelli, V., Comi, G., Leocani, L. November 16, 2017

Objective:

To explore, in a longitudinal study, the usefulness of optical coherence tomography (OCT) in monitoring people with multiple sclerosis (MS) by testing the association between retinal nerve fiber layer (RNFL) thinning and clinical and brain MRI criteria of no evidence of disease activity (NEDA).… Read More...

Choi, S.-Y., Kim, H.-J., Kim, J.-S. November 16, 2017

Objective:

To determine the role of the medial longitudinal fasciculus (MLF) in conveying vestibular signals.

Methods:

In 10 patients with isolated acute unilateral internuclear ophthalmoplegia (INO) due to an acute stroke, we performed comprehensive vestibular evaluation using video-oculography, head impulse tests with a magnetic search coil technique, bithermal caloric tests, tests for the ocular tilt reaction, and measurements of subjective visual vertical and cervical and ocular vestibular evoked myogenic potentials (VEMPs).… Read More...

Yoshitaka Yamaguchi, Mikito Hayakawa, Naoto Kinoshita, Chiaki Yokota, Toshiya Ishihara, Kazunori Toyoda November 16, 2017

A 63-year-old woman with end-stage renal disease on maintenance hemodialysis discontinued her medication for rheumatoid arthritis with prednisolone and azathioprine. One month later, she was admitted because of consciousness disturbance and right hemiparesis. Diffusion-weighted brain magnetic resonance imaging (MRI) revealed multiple hyperintensities in her left frontal and parietal lobes.… Read More...

Yanling Liang, Jia Chen, Xuan Zheng, Zhiyi Chen, Yuming Liu, Siying Li, Xiaobo Fang November 16, 2017

The neuroprotective effects of kallidinogenase against acute cerebral infarction have been demonstrated, and the use of microbubbles has been suggested as a therapeutic mechanism for drug delivery. This study was designed to investigate the optimal parameters for preparing kallidinogenase-loaded microbubbles (KLMs) and to evaluate the effects of KLM-targeted therapy on neurogenesis and angiogenesis following experimental acute cerebral infarction in rats.… Read More...

Raffaella Willmann, Filippo Buccella, Annamaria De Luca, Miranda D. Grounds, on behalf of the 227th ENMC workshop study group November 16, 2017

• For the first time, the issue of improving translatability of preclinical results was discussed with a wide range of stakeholders representing the researchers‘ and the clinicians‘ communities, the journal editors, the funding bodies, the regulatory agencies, industry and patient representatives.• Challenges and pitfalls regarding the planning, funding, reporting and publishing of efficacy studies and confirmatory studies in animal models, the publishing of negative results and the sharing of data, were thoroughly discussed.… Read More...

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