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Charcot-Marie-Tooth 1A (CMT1A) caused by peripheral myelin protein 22 (PMP22) gene duplication is the most common form of hereditary polyneuropathy. Twenty-four genetically confirmed CMT1A patients with sural nerve biopsies were enrolled in this study. The clinical picture included a great variability of phenotype with mean onset age of 22.2±14.5 years (1–55 years). Pathologically, we observed a severe reduction in myelinated fiber density showing three types of changes: pure onion bulb formation in 3 cases (12.5%), onion bulb formation with axonal sprouts in 10 cases (41.7%), and focally thickened myelin with onion bulb formation or/and axonal sprouts in 11 cases (45.8%). We observed no significant correlation between nerve fiber density and disease duration. There was no significant difference between the 3 pathological types in terms of clinical manifestations, nerve fiber density, and g-ratio. Our study indicates that there is marked variability in the age of onset of CMT1A, as well as significant pathological changes without deterioration with the development of the disease. Focally thickened myelin is another common morphological feature of demyelination. [ABSTRACT FROM AUTHOR]

Expedited bone tissue engineering employs the biological stimuli to harness the intrinsic regenerative potential of skeletal muscle to trigger the reparative process in situ to improve or replace biological functions. When genetically modified with adenovirus mediated BMP2 gene transfer, muscle biopsies from animals have demonstrated success in regenerating bone within rat bony defects. However, it is uncertain whether the human adult skeletal muscle displays an osteogenic potential in vitro when a suitable biological trigger is applied. In present study, human skeletal muscle cultured in a standard osteogenic medium supplemented with dexamethasone demonstrated significant increase in alkaline phosphatase activity approximately 24-fold over control at 2-week time point. More interestingly, measurement of mRNA levels revealed the dramatic results for osteoblast transcripts of alkaline phosphatase, bone sialoproteins, transcription factor CBFA1, collagen type I, and osteocalcin. Calcified mineral deposits were demonstrated on superficial layers of muscle discs after an extended 8-week osteogenic induction. Taken together, these are the first data supporting human skeletal muscle tissue as a promising potential target for expedited bone regeneration, which of the technologies is a valuable method for tissue repair, being not only effective but also inexpensive and clinically expeditious. [ABSTRACT FROM AUTHOR]

Although decades of efforts have been spent studying the pathogenesis of social anxiety disorder (SAD), there are still no objective biological markers that could be reliably used to identify individuals with SAD. Studies using multivariate pattern analysis have shown the potential value in clinically diagnosing psychiatric disorders with neuroimaging data. We therefore examined the diagnostic potential of regional homogeneity (ReHo) underlying neural correlates of SAD using support vector machine (SVM), which has never been studied. Forty SAD patients and pairwise matched healthy controls were recruited and scanned by resting-state fMRI. The ReHo was calculated as synchronization of fMRI signals of nearest neighboring 27 voxels. A linear SVM was then adopted and allowed the classification of the two groups with diagnostic accuracy of ReHo that was 76.25% (sensitivity = 70%, and specificity = 82.5%, P≤0.001). Regions showing different discriminating values between diagnostic groups were mainly located in default mode network, dorsal attention network, self-referential network, and sensory networks, while the left medial prefrontal cortex was identified with the highest weight. These results implicate that ReHo has good diagnostic potential in SAD, and thus may provide an initial step towards the possible use of whole brain local connectivity to inform the clinical evaluation. [ABSTRACT FROM AUTHOR]