Recommendations for myasthenia gravis clinical trials

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Late appearance of dropped head syndrome after radiotherapy for Hodgkin\u27s disease.

We present three cases of dropped head syndrome that occurred as a complication of mantle field (i.e., lymph nodes of the neck, axillae, and mediastinum) or whole-body radiation therapy for Hodgkin\u27s disease. These cases are characterized by a late onset (2-27 years after radiation treatment), fibrosis, and contraction of the anterior cervical muscles, and atrophy of the posterior neck and shoulder girdle. This report adds to the increasing literature about the late neurological complications of radiation therapy and describes a previously unrecognized cause of dropped head syndrome

Regulation of Apoptosis and Caspase-8 Expression in Neuroblastoma Cells by Isoforms of the IG20

Pavilion of Ten Thousand Autumns (Qian Qiu Ting) in the west garden; The Forbidden City was the Chinese imperial palace from the Ming Dynasty to the end of the Qing Dynasty. To the west of the Inner Palace is the residential quarter of the Qing emperors, with numerous smaller buildings and gardens. To the east stood the residence of the imperial concubines and various ritual halls, as well as theatres, temples and gardens. Source: Wikipedia; http://en.wikipedia.org/wiki/Main_Page (accessed 5/11/2011

Novel LMNA Mutations in Patients With Emery-Dreifuss Muscular Dystrophy and Functional Characterization of Four LMNA Mutations

International audienceMutations in <i>LMNA</i> cause a variety of diseases affecting striated muscle including autosomal-Emery-Dreifuss muscular dystrophy (EDMD), <i>LMNA</i>-associated congenital muscular dystrophy (L-CMD) and limb-girdle muscular dystrophy type 1B (LGMD1B). Here, we describe novel and recurrent <i>LMNA</i> mutations identified in 50 patients from the USA and Canada, which is the first report of the distribution of <i>LMNA</i> mutations from a large cohort outside Europe. This augments the number of <i>LMNA</i> mutations known to cause EDMD by 16.5%, equating to an increase of 5.9% in the total known <i>LMNA</i> mutations. Eight patients presented with p.R249W/Q or p.E358K mutations and an early onset EDMD phenotype: two mutations recently associated with L-CMD. Importantly, 15 mutations are novel and include eight missense mutations (p.R189P, p.F206L, p.S268P, p.S295P, p.E361K, p.G449D, p.L454P and p.W467R), three splice site mutations (c.IVS4+1G>A, c.IVS6-2A>G, c.IVS8+1G>A), one duplication/in frame insertion (p.R190dup), one deletion (p.Q355del) and two silent mutations (p.R119R and p.K270K). Analysis of 4 of our lamin A mutations showed that some caused nuclear deformations and lamin B re-distribution in a mutation specific manner. Together, this study significantly augments the number of EDMD patients on the database and describes 15 novel mutations that underlie EDMD, which will contribute to establishing genotype-phenotype correlations