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Pycnodysostosis (from Greek πυκνός (puknos) 'dense' dys- 'defective' and -ostosis 'condition of the bone' [1]) is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. [2]
Gorham's disease (pronounced GOR-amz), also known as Gorham vanishing bone disease and phantom bone disease, [1] is a very rare skeletal condition of unknown cause.It is characterized by the uncontrolled proliferation of distended, thin-walled vascular or lymphatic channels within bone, which leads to resorption and replacement of bone with angiomas and/or fibrosis.
Fibrous dysplasia of the right zygomatic bone (left). Corresponding T2-weighted MRI (left) and CT (right) of the same patient. Fibrous dysplasia is a mosaic disease that can involve any part or combination of the craniofacial, axillary, and/or appendicular skeleton. [7]
Genetic, [1] epigenetic, [2] proteomic, [3] glycomic, [4] and imaging biomarkers can be used for cancer diagnosis, prognosis, and epidemiology. Ideally, such biomarkers can be assayed in non-invasively collected biofluids like blood or serum. [5] Cancer is a disease that affects society at a world-wide level.
Pan-cancer Whole-Genome Comparison of Primary and Metastatic Solid Tumours is a comprehensive research study published in Nature exploring genomic disparities between untreated early-stage primary tumors and treated late-stage metastatic tumors. Conducted through a harmonized analysis of 7,108 whole-genome-sequenced tumors across 23 cancer ...
While kidney cancer does not often cause symptoms at the onset, they can develop over time, the Mayo Clinic explains. Those signs often include blood in the urine, a loss of appetite, consistent ...
Roughly 1 million people in the United States have cerebral palsy, according to the Cerebral Palsy Alliance Research Foundation. Cerebral palsy affects a person's ability to move and maintain ...
Cancer. With luxurious Venus in Aries, Cancer feels the blessings pour into their career sector. There's joy in gaining positive visibility and attention for their hard work. Now is the time to ...