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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
Juvenile osteoporosis is a group of heritable disorders that present during childhood. Decreased WNT signaling activity because of mutations in WNT1 itself and mutations in LRP5 (which encodes a coreceptor involved in Wnt/β-catenin signaling) have been reported to cause juvenile osteoporosis. Recently, mutations in the plastin 3 (PLS3) gene were identified in patients suffering from an X-linked variant of the disease (van Dijk, 2015).
Musculoskeletal (including trauma and soft tissues)
Published in Dave Maudgil, Anthony Watkinson, The Essential Guide to the New FRCR Part 2A and Radiology Boards, 2017
Dave Maudgil, Anthony Watkinson
Are the following statements true or false? Pseudoarthrosis of the tibia and fibula: is associated with fibrous dysplasia.is associated with juvenile osteoporosis.is most commonly due to neurofibromatosis.typically arises at the junction of the mid and upper third.is easily treated.
Principles of paediatric trauma
Published in Sebastian Dawson-Bowling, Pramod Achan, Timothy Briggs, Manoj Ramachandran, Stephen Key, Daud Chou, Orthopaedic Trauma, 2014
Childhood osteoporosis may occur for several reasons: Prolonged steroid administration, immobility or paralysis.Prematurity.Idiopathic juvenile osteoporosis. The aetiology is unknown. Cardinal features include profound reduction in bone mass before puberty, compression fractures of vertebrae and long bones, formation of new but osteoporotic bone and spontaneous recovery following skeletal maturity.
Fibroblast growth factor 23 and 25(OH)D levels are related to abdominal obesity and cardiovascular risk in patients with polycystic ovarian syndrome
Published in Gynecological Endocrinology, 2020
Antoaneta Gateva, Adelina Tsakova, Julieta Hristova, Zdravko Kamenov
In the present study we included patients from endocrine clinic with PCOS that met the following inclusion (premenopausal women aged 18 to 45; PCOS, diagnosed by European Society for Human Reproduction and Embryology – American Society of Reproductive Medicine – criteria*) AND/OR Obestiy (body mass index - BMI ≥30 kgm2) and exclusion criteria (Pregnancy; serious illnesses as cardiac, renal or liver insufficiency; other endocrine pathology like type 2 diabetes mellitus, adrenal tumors/hyperplasia, hypothyroidism, pituitary tumors, hypogonadism and insulin sensitizing medication (metformin or glitazones) or combined oral contraceptiveuse less than 4 months prior to the study; bone diseases (osteogenesis imperfecta, juvenile osteoporosis), recent bone fractures (<1 year before inclusion).
Efficacy of denosumab therapy for osteoporosis-pseudoglioma syndrome with osteoporosis: a case report
Published in Modern Rheumatology Case Reports, 2019
Shun Miyazawa, Yukio Nakamura, Tomoki Kosho, Hiroshi Kawame, Satoshi Narumi, Tomonobu Hasegawa, Takako Suzuki, Hiroyuki Kato
Osteoporosis-pseudoglioma (OPPG) syndrome (OPPG, OMIM 259770) is a very rare autosomal recessive disorder. It likely causes severe juvenile osteoporosis. Tüysüz et al. [1] and others have shown that bisphosphonate (BP) treatment for several years improved bone mineral density (BMD) in OPPG. However, there has been no consensus osteoporosis treatment for OPPG to date.