Abstract: A novel gene (EPM2A) that is deleted or mutated in people with Lafora's disease is described. The EPM2A gene encodes a protein having an active catalytic site of a protein tyrosine phosphatase. Many different sequence mutations as well as several microdeletions in EPM2A have been found that co-segregate with Lafora's disease.

Abstract: A method and system for determination of oxygen saturation in blood flowing in a vessel using magnetic resonance (MR). An MR image sequence is acquired with different echo time (TE) encoding, and different Fourier velocity encoding (FVE). A Fourier transformation is applied along the velocity dimension to determine a velocity distribution of tissue signals in each voxel of the image sequence. Tissue signals indicative of moving tissues are separated from tissue signals indicative of static tissue, based on the velocity distribution. Oxygen saturation in blood may then be determined using only the tissue signals indicative of flowing blood.

Abstract: Compositions and methods for inducing the deposition of elastin by administering compositions including a mineralocorticoid, such as, for example, aldosterone and, optionally, a secondary active agent for enhancing or modulating the effect of the mineralocorticoid are described herein.

Abstract: The invention provides methods for reducing the incidence and/or severity and/or delaying the onset of heart dysfunction/failure and improving overall survival through the use of remote ischemic per-conditioning and post-conditioning.

Abstract: The invention contemplates, inter alia, the use of remote ischemic conditioning in the treatment of a variety of disorders.

Abstract: Dermal fibroblasts permanently loose their ability to synthesize elastin, the major component of elastic fibers, shortly after puberty. This progressive loss of elastic fibers cannot be replaced, resulting in the physical signs of aging. The present invention provides methods and compositions containing the polyphenols ellagic acid and/or tannic acid for protection against degradation of cutaneous elastic fibers by the elastolytic enzymes. The use of ellagic acid and/or tannic acid increased the overall deposition of elastic fibers in healthy and damaged skin cells. The protection of both intra-tropoelastin and extra-cellular mature elastic fibers from proteolytic enzymes by ellagic acid and tannic acid caused an increase in the net deposition of elastic fibers. Therefore, embodiments of the present invention provide methods and composition for the treatment of skin and prevention and treatment of degradation of dermal elastic fibers.

Abstract: The invention contemplates use of remote ischemic conditioning in the treatment of erectile dysfunction.

Abstract: Therapeutic compositions and methods for treatment of late-onset Gaucher disease are described herein. The compositions comprise compounds having activity as pharmacological chaperones for mutant forms of the beta-glucocerebrosidase. Methods of treatment involve providing therapeutically effective amounts of such compositions to subjects in need thereof.

Abstract: A novel gene (EPM2B) that is mutated in humans and dogs with Lafora's disease is described.

Abstract: Compositions and methods for modulating the deposition of elastin by administering compositions including insulin receptor agonists are described herein.

Abstract: The present invention relates to a method for diagnosis of cancer and for monitoring the progression of cancer and/or the therapeutic efficacy of an anti-cancer treatment in a sample of a subject by detecting oncogenic proteins in microvesicles, and to the use of an agent blocking exchange of microvesicles for treating cancer.

Abstract: The present application relates to imidazolidinecliones, compositions comprising these compounds and their use, in particular for the treatment of diseases, disorders or conditions characterized by or associated with the hypercitrullination of proteins by peptidyl arginine deiminase (PAD) enzymes. In particular, the present application includes compounds of Formula I, and compositions and uses thereof: (I).

Abstract: A system for remote ischemic preconditioning that includes a cuff, and actuator, and a controller that operates the actuator according to a treatment protocol. The treatment protocol includes a plurality of treatment cycles that each comprise cuff actuation, an ischemic duration, cuff release, and a reperfusion duration.

Abstract: The disclosure relates to resorcylic acid lactones and indolinone-containing compounds for use in treatment of diseases associated with aberrant protein processing, such as cystic fibrosis (CF; mucoviscidosis). The disclosure more generally relates to treatment of aberrant protein processing, such as errors in protein folding, trafficking or post-translational modification.

Abstract: A system for remote ischemic preconditioning that includes a cuff, and actuator, and a controller that operates the actuator according to a treatment protocol. The treatment protocol includes a plurality of treatment cycles that each comprise cuff actuation, an ischemic duration, cuff release, and a reperfusion duration.

Abstract: The present invention is a medical training simulation apparatus and computer-implemented training method for training of medical professionals in medical examinations involving body parts with concealed geometry, such as in pneumatic otoscopy of the ear. A video adaptation tool is provided whereby one or more displayed images are adapted based on movements or sensor readings related to manipulation of a medical tool within a physical model of a body part. A computer system is also provided that includes at least one medical training simulation apparatus.

Abstract: The present invention provides compositions and methods for treating lysosomal disorders using a class of substituted imidazole derivatives or compounds.

Abstract: Therapeutic compositions and methods for treatment of late-onset Gaucher disease are described herein. The compositions comprise compounds having activity as pharmacological chaperones for mutant forms of the beta-glucocerebrosidase. Methods of treatment involve providing therapeutically effective amounts of such compositions to subjects in need thereof.

Abstract: The present invention describes therapeutic compositions comprising one or more minerals, including trivalent iron, divalent manganese and salts thereof, suitable in facilitating synthesis and deposition of connective tissue matrix, particularly rich of elastin and collagen, and mitogenic potential in human dermal fibroblasts. It also describes the phenomenon in which stimulation of elastogenesis by arterial SMC associates with a net decrease in proliferation of these cell types. The present invention also describes methods of treatment of human skin fibroblasts and arterial smooth muscle cells. The therapeutic compositions of the present invention comprise one or more of trivalent iron or divalent manganese or salts thereof and may be combined with an elastic tissue digest.

Abstract: The present invention relates to cDNA sequences from a region of amplification on chromosome 20 associated with disease. The sequences can be used in hybridization methods for the identification of chromosomal abnormalities associated with various diseases. The sequences can also be used for treatment of diseases.