INTRODUCTION The ATP6AP1 gene encodes for ATPase H+ transporting protein. ATP6AP1 gene mutations are associated with congenital disorders of glycosylation (CDG) and can affect multiple organ system. Descriptions of postnatal phenotype include immunodeficiency, hepatopathy and cognitive impairment. No prenatal phenotype of these gene mutations has…[Read more]

Multimode fibers (MMFs) show great promise as miniature probes for sensing, imaging, and spectroscopy applications. Different parameters of the fibers, such as numerical aperture, refractive index profile and length, have been already optimized for better performance. Here we investigate the role of the core shape, in particular for wavefront…[Read more]

Pancreatic cysts are incidentally detected in up to 13% of patients undergoing radiographic imaging. Of the most frequently encountered types, mucin-producing (mucinous) pancreatic cystic lesions may develop into pancreatic cancer, while nonmucinous ones have little or no malignant potential. Accurate preoperative diagnosis is critical for optimal…[Read more]