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https://www.selleckchem.com/products/AG14361.html Congenital myasthenic syndrome (CMS) caused by mutations in MUSK is very rare and the genotype-phenotype relationship in MUSK related CMS is still unclear. Here we identified two patients carrying a homozygous hotspot mutation, c.308A > G in MUSK from a Chinese family. Both of them presented predominant bulbar weakness and atrophy of bilateral temporalis and masticatory muscles. To address the phenotype-genotype relationship, a total of 27 MUSK related CMS patients were reviewed. Patients with nonsense, frameshift or splicing mutations showed earlier onset (10/13 vs 2/14 neonatal onset, p = 0.0018) and more occurrence of vocal cord paralysis or stridor (8/13 vs 0/14, p = 0.0006), indicating a more severe phenotype. Comparing with patients carrying other missense mutations, the four patients carrying a homozygous c.308A > G mutation showed the female predominance (4/10 vs 4/4) and dramatic exacerbation after emotional or physiological stresses (2/10 vs 4/4) like pregnancy, menstrual periods and infection. All these indicated a genotype-phenotype relationship in MUSK-related CMS. The present prospective cohort study evaluates the effect of three-dimensional (3-D) endoscopy on outcome in transphenoidal endoscopic surgery of pituitary adenomas compared to conventional two-dimensional (2-D) endoscopy. Prospective data was collected from patients undergoing endoscopic surgery for pituitary adenomas before and after the introduction of 3-D endoscopy. Patients, grouped by having 2-D or 3-D endoscopic surgery, were compared in regard to procedure time, intraoperative blood loss, complications, hospital stay, grade of resection and quality of life (QoL). Twenty-six patients having surgery with 2-D endoscopy were compared with 29 patients having surgery with 3-D endoscope. Only primary procedures were included. There were no significant differences in baseline characteristics between the two groups. No statistically significant

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