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Paper 3
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Caffey disease presents in infancy. Focal scleroderma may demonstrate subcutaneous and periarticular calcification. Osteopoikilosis is a condition of multiple enostoses, a benign condition in which the bone islands align parallel to the trabeculae and tend to cluster around joints. Pyknodysostosis is a condition diagnosed early in childhood in which there is dwarfism with associated with multiple skeletal abnormalities as well as learning disability.
Precision medicine in osteoporosis and bone diseases
Published in Debmalya Barh, Precision Medicine in Cancers and Non-Communicable Diseases, 2018
Fatmanur Hacievliyagil Kazanci, Fatih Kazanci, M. Ramazan Yigitoglu, Mehmet Gunduz
Pycnodysostosis is an autosomal recessive bone disorder caused by disruption of the osteoclastic function. Mutations resulting in loss of function in the cathepsin K (CTSK) gene have been shown in this disease. CTSK is the main protease of the bone resorption, and today odanacatib (CTSK inhibitor) is developed for osteoporosis treatment (McClung et al., 2014).
Short answer questions (SAQs)
Published in Tristan Barrett, Nadeem Shaida, Ashley Shaw, Adrian K. Dixon, Radiology for Undergraduate Finals and Foundation Years, 2018
Tristan Barrett, Nadeem Shaida, Ashley Shaw, Adrian K. Dixon
In this case the finding was due to fluorosis. Causes of osteosclerosis include: Fluorosis.Osteopetrosis.Diffuse osteosclerotic metastases (from prostate cancer, breast cancer, etc.).Mastocytosis.Myelofibrosis.Pyknodysostosis.Melorheostosis.Osteopoikilosis.Hyperparathyroidism.Sickle cell disease.Oxalosis.Paget’s disease.Renal osteodystrophy.
A patent review on cathepsin K inhibitors to treat osteoporosis (2011 – 2021)
Published in Expert Opinion on Therapeutic Patents, 2022
Fernanda R. Rocho, Vinícius Bonatto, Rafael F. Lameiro, Jerônimo Lameira, Andrei Leitão, Carlos A. Montanari
Interestingly, CatK is the only cathepsin highly expressed in osteoclasts, where the enzyme is present in the lysosome and cytoplasmic vesicles [10]. CatK is widely secreted by activated osteoclasts to degrade the bonde matrix, primarily type I collagen protein, constituting approximately 90% of the organic bone matrix [6]. The enzyme can also degrade type II collagen, the main matrix protein in cartilage [11]. Research with murine models reinforces the critical role of CatK in bone resorption [12–14]. Studies showed that mice with CatK deficiency could develop osteopetrosis of the long bones, in which inefficient osteoclasts activity was observed [13]. Additionally, a recent study showed that osteocytes could also express and secrete CatK, required for lactation-induced peri-lacunar resorption, to assure the right amounts of calcium in milk and aid skeletal development in offspring [15]. Therefore, the enzyme has become an attractive and essential biological target for treating bone-related diseases, primarily osteoporosis [8,16,17], which will be discussed throughout this review. Furthermore, it is essential to mention that despite CatK’s role in osteoporosis, its implication goes beyond as the enzyme is also expressed in other cell types [16], which makes the protein a promising target for many diseases, such as diabetes [18], obesity [19], and some types of cancer [20,21]. Additionally, CatK has a role in pycnodysostosis [22], that is a rare autosomal recessive disorder, which is caused by inactivating mutations in CatK expressed in a wide range of non-bone cells, to which more research needs to be devoted.
Genetic polymorphism in RANK is associated with mandibular size
Published in Journal of Orthodontics, 2018
Erika Calvano Küchler, Mariele Andrade do Nascimento, Mirian Aiko Nakane Matsumoto, Fabio Lourenço Romano, Raquel Assed Bezerra da Silva, Marjorie Ayumi Omori, Lívia Azeredo Antunes, Leonardo Santos Antunes, Léa Assed Bezerra da Silva, Paulo Nelson-Filho
Many genetic conditions present mandibular and maxilla size alterations. The skeletal dysplasia condition pyknodysostosis is a rare autosomal recessive disorder caused by an inactivating mutation in the lysosomal cathepsin K gene. It is clinically characterised by osteosclerosis, hypoplasia of the maxilla and mandible with an obtuse mandibular angle and narrow maxilla (Appelman-Dijkstra and Papapoulos 2016). Interestingly, impaired bone resorption in cathepsin K deficient mice is, in part, compensated for by enhanced osteoclastogenesis and increased expression of other proteases via an increased RANKL/OPG ratio (Kiviranta et al. 2004).