Bone Abstracts June 2017 Volume 6 ISSN 2052-1219 (Online)
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Hypophosphatasia Could Explain Some Atypical Femur Fractures
Hypophosphatasia Could Explain Some Atypical Femur Fractures What we know Hypophosphatasia (HPP) is a rare genetic disease that affects the development of bones and teeth in children (Whyte 1985). HPP is caused by the absence or reduced amount of an enzyme called tissue-nonspecific alkaline phosphatase (TAP), also called bone-specific alkaline phosphatase (BSAP). The absence of TAP raises the level of inorganic pyrophosphate (Pi), which prevents calcium and phosphate from creating strong, mineralized bone. Without TAP, bones can become weak. In its severe form, HPP is fatal and happens in 1/100,000 births. Because HPP is genetic, it can appear in adults as well. A recent study has identified a milder, more common form of HPP that occurs in 4 of 1000 adults (Dahir 2018). This form of HPP is usually seen in early middle aged adults who have low bone density and sometimes have stress fractures in the feet or thigh bone. Sometimes these patients lose their baby teeth early, but not always. HPP is diagnosed by measuring blood levels of TAP and vitamin B6. An elevated vitamin B6 level [serum pyridoxal 5-phosphate (PLP)] (Whyte 1985) in a patient with a TAP level ≤40 or in the low end of normal can be diagnosed with HPP. Almost half of the adult patients with HPP in the large study had TAP >40, but in the lower end of the normal range (Dahir 2018). The connection between hypophosphatasia and osteoporosis Some people who have stress fractures get a bone density test and are treated with an osteoporosis medicine if their bone density results are low. -
Atypical Femur Fracture in an Adolescent Boy Treated with Bisphosphonates for X-Linked Osteoporosis Based on PLS3 Mutation Denise M
Atypical femur fracture in an adolescent boy treated with bisphosphonates for X-linked osteoporosis based on PLS3 mutation Denise M. van de Laarschot BSc1, M. Carola Zillikens MD PhD 1 1 Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands Corresponding author at: Erasmus Medical Centre, PO Box 2040, 3000 CA Rotterdam, The Netherlands. Abstract Long-term use of bisphosphonates has raised concerns about the association with Atypical Femur Fractures (AFFs) that have been reported mainly in postmenopausal women. We report a case of an 18-year-old patient with juvenile osteoporosis based on X-linked osteoporosis due to a PLS3 mutation who developed a low trauma femoral fracture after seven years of intravenous and two years of oral bisphosphonate use, fulfilling the revised ASBMR diagnostic criteria of an AFF. The occurrence of AFFs has not been described previously in children or adolescents. The underlying monogenetic bone disease in our case strengthens the possibility of a genetic predisposition at least in some cases of AFF. We cannot exclude that a transverse fracture of the tibia that also occurred after a minor trauma at age 16 might be part of the same spectrum of atypical fractures related to the use of bisphosphonates. In retrospect our patient experienced prodromal pain prior to both the tibia and the femur fracture. Case reports of atypical fractures in children with a monogenetic bone disease such as Osteogenesis Imperfecta (OI) or juvenile osteoporosis are important to consider in the discussion about optimal -
Differential Diagnosis: Brittle Bone Conditions Other Than OI
Facts about Osteogenesis Imperfecta Differential Diagnosis: Brittle Bone Conditions Other than OI Fragile bones are the hallmark feature of osteogenesis imperfecta (OI). The mutations that cause OI lead to abnormalities within bone that result in increased bone turnover; reduced bone mineral content and decreased bone mineral density. The consequence of these changes is brittle bones that fracture easily. But not all cases of brittle bones are OI. Other causes of brittle bones include osteomalacia, disuse osteoporosis, disorders of increased bone density, defects of bone, and tumors. The following is a list of conditions that share fragile or brittle bones as a distinguishing feature. Brief descriptions and sources for further information are included. Bruck Syndrome This autosomal recessive disorder is also referred to as OI with contractures. Some people now consider this to be a type of OI. National Library of Medicine Genetics Home Reference: http://ghr.nlm.nih.gov Ehlers-Danlos Syndrome (EDS) Joint hyperextensibility with fractures; this is a variable disorder caused by several gene mutations. Ehlers-Danlos National Foundation http://www.ednf.org Fibrous Dysplasia Fibrous tissue develops in place of normal bone. This weakens the affected bone and causes it to deform or fracture. Fibrous Dysplasia Foundation: https://www.fibrousdysplasia.org Hypophosphatasia This autosomal recessive disorder affects the development of bones and teeth through defects in skeletal mineralization. Soft Bones: www.softbones.org; National Library of Medicine Genetics Home Reference: http://ghr.nlm.nih.gov/condition Idiopathic Juvenile Osteoporosis A non-hereditary transient form of childhood osteoporosis that is similar to mild OI (Type I) National Osteoporosis Foundation: www.nof.org McCune-Albright Syndrome This disorder affects the bones, skin, and several hormone-producing tissues. -
WO 2010/115932 Al
(12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (10) International Publication Number (43) International Publication Date 14 October 2010 (14.10.2010) WO 2010/115932 Al (51) International Patent Classification: AO, AT, AU, AZ, BA, BB, BG, BH, BR, BW, BY, BZ, A61K 31/675 (2006.01) A61K 45/06 (2006.01) CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, DO, A61K 38/00 (2006.01) A61P 19/08 (2006.01) DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, A61K 39/395 (2006.01) A61P 19/10 (2006.01) HN, HR, HU, ID, IL, IN, IS, JP, KE, KG, KM, KN, KP, KR, KZ, LA, LC, LK, LR, LS, LT, LU, LY, MA, MD, (21) International Application Number: ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, PCT/EP20 10/054605 NO, NZ, OM, PE, PG, PH, PL, PT, RO, RS, RU, SC, SD, (22) International Filing Date: SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, 7 April 2010 (07.04.2010) TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (25) Filing Language: English (84) Designated States (unless otherwise indicated, for every kind of regional protection available): ARIPO (BW, GH, (26) Publication Language: English GM, KE, LR, LS, MW, MZ, NA, SD, SL, SZ, TZ, UG, (30) Priority Data: ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, MD, RU, TJ, 61/167,688 8 April 2009 (08.04.2009) US TM), European (AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, (71) Applicant (for all designated States except US): NO- MC, MK, MT, NL, NO, PL, PT, RO, SE, SI, SK, SM, VARTIS AG [CH/CH]; Lichtstrasse 35, CH-4056 Basel TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, (CH). -
A Novel Germline Mutation of ADA2 Gene In
International Journal of Molecular Sciences Case Report A Novel Germline Mutation of ADA2 Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype Silvia Vai 1,†, Erika Marin 1,† , Roberta Cosso 2 , Francesco Saettini 3, Sonia Bonanomi 3, Alessandro Cattoni 3, Iacopo Chiodini 1,4 , Luca Persani 1,4 and Alberto Falchetti 1,2,* 1 Department of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico Italiano, 20145 Milan, Italy; [email protected] (S.V.); [email protected] (E.M.); [email protected] (I.C.); [email protected] (L.P.) 2 IRCCS, Istituto Auxologico Italiano, San Giuseppe Hospital, 28824 Verbania, Italy; [email protected] 3 Department of Pediatrics, Università degli Studi di Milano-Bicocca, Fondazione MBBM, San Gerardo Hospital, 20100 Monza, Italy; [email protected] (F.S.); [email protected] (S.B.); [email protected] (A.C.) 4 Department of Medical Biotechnologies and Translational Medicine, University of Milan, 20122 Milan, Italy * Correspondence: [email protected] † These authors equally contributed to this paper. Abstract: Adenosine Deaminase 2 Deficiency (DADA2) syndrome is a rare monogenic disorder preva- lently linked to recessive inherited loss of function mutations in the ADA2/CECR1 gene. It consists Citation: Vai, S.; Marin, E.; Cosso, R.; of an immune systemic disease including autoinflammatory vasculopathies, with a frequent onset Saettini, F.; Bonanomi, S.; Cattoni, A.; at -
Dundeeuniversi of Dundee Undergraduate Prospectus 2019
This is Dundee Universi of Dundee Undergraduate Prospectus 2019 One of the World’s Top 200 Universities Times Higher Education World Universi Rankings 2018 This is Dundee Come and visit us Undergraduate open days 2018 and 2019 Monday 27 August 2018 Saturday 22 September 2018 Monday 26 August 2019 Saturday 21 September 2019 Talk to staff and current students, tour our fantastic campus and see what the University of Dundee can offer you! Booking is essential visit uod.ac.uk/opendays-ug email [email protected] “It was an open day that made me choose Dundee. The universities all look great and glitzy on the prospectus but nothing compares to having a visit and feeling the vibe for yourself.” Find out more about why MA Economics and Spanish student Stuart McClelland loved our open day at uod.ac.uk/open-days-blog Contents Contents 8 This is your university 10 This is your campus 12 Clubs and societies 14 Dundee University Students’ Association 16 Sports 18 Supporting you 20 Amazing things to do for free (or cheap!) in Dundee by our students 22 Best places to eat in Dundee – a students’ view 24 You’ll love Dundee 26 Map of Dundee 28 This is the UK’s ‘coolest little city’ (GQ Magazine) 30 Going out 32 Out and about 34 This is your home 38 This is your future 40 These are your opportunities 42 This is your course 44 Research 46 Course Guide 48 Making your application 50 Our degrees 52 Our MA honours degree 54 Our Art & design degrees 56 Our life sciences degrees 58 Studying languages 59 The professions at Dundee 60 Part-time study and lifelong learning 61 Dundee is international 158 Advice and information 160 A welcoming community 161 Money matters 162 Exchange programmes 164 Your services 165 Where we are 166 Index 6 7 Make your Make This is your university This is your Summer Graduation in the City Square Summer Graduation “Studying changes you. -
Overuse Injuries in Sport: a Comprehensive Overview R
Aicale et al. Journal of Orthopaedic Surgery and Research (2018) 13:309 https://doi.org/10.1186/s13018-018-1017-5 REVIEW Open Access Overuse injuries in sport: a comprehensive overview R. Aicale1*, D. Tarantino1 and N. Maffulli1,2 Abstract Background: The absence of a single, identifiable traumatic cause has been traditionally used as a definition for a causative factor of overuse injury. Excessive loading, insufficient recovery, and underpreparedness can increase injury risk by exposing athletes to relatively large changes in load. The musculoskeletal system, if subjected to excessive stress, can suffer from various types of overuse injuries which may affect the bone, muscles, tendons, and ligaments. Methods: We performed a search (up to March 2018) in the PubMed and Scopus electronic databases to identify the available scientific articles about the pathophysiology and the incidence of overuse sport injuries. For the purposes of our review, we used several combinations of the following keywords: overuse, injury, tendon, tendinopathy, stress fracture, stress reaction, and juvenile osteochondritis dissecans. Results: Overuse tendinopathy induces in the tendon pain and swelling with associated decreased tolerance to exercise and various types of tendon degeneration. Poor training technique and a variety of risk factors may predispose athletes to stress reactions that may be interpreted as possible precursors of stress fractures. A frequent cause of pain in adolescents is juvenile osteochondritis dissecans (JOCD), which is characterized by delamination and localized necrosis of the subchondral bone, with or without the involvement of articular cartilage. The purpose of this compressive review is to give an overview of overuse injuries in sport by describing the theoretical foundations of these conditions that may predispose to the development of tendinopathy, stress fractures, stress reactions, and juvenile osteochondritis dissecans and the implication that these pathologies may have in their management. -
Vitamin D and Bone Health
1150 17th Street NW Suite 850 Washington, D.C. 200361 Bone Basics 1 (800) 231-4222 TEL ©National Osteoporosis Foundation 2013 1 (202) 223-2237 FAX www.nof.org Vitamin D and Bone Health Vitamin D plays an important role in protecting your bones. It may also help prevent other conditions including certain cancers. Your body requires vitamin D to absorb calcium. Children need vitamin D to build strong bones, and adults need it to keep bones strong and healthy. When people do not get enough vitamin D, they can lose bone. Studies show that people with low levels of vitamin D have lower bone density or bone mass. They are also more likely to break bones when they are older. Severe vitamin D deficiency is rare in the United States. It can cause a disease known as osteomalacia where the bones become soft. In children, this is known as rickets. These are both different conditions from osteoporosis. NOF Recommendations for Vitamin D The National Osteoporosis Foundation (NOF) recommends that adults under age 50 get 400-800 International Units (IU) of vitamin D every day, and that adults age 50 and older get 800-1,000 IU of vitamin D every day. Some people need more vitamin D. There are two types of vitamin D supplements. They are vitamin D2 and vitamin D3. Previous research suggested that vitamin D3 was a better choice than vitamin D2. However, more recent studies show that vitamin D3 and vitamin D2 are fairly equal for bone health. Vitamin D3 is also called cholecalciferol. Vitamin D2 is also called ergocalciferol. -
Nichola Hall University of Abertay Dundee Doctor of Philosophy
The influence of zinc on the physiology of industrial strains o f Saccharomyces cerevisiae Nichola Hall A thesis submitted in partial fulfilment of the requirements of the University of Abertay Dundee for the degree of Doctor of Philosophy November 2001 I certify that this is the true and accurate version of the thesis approved by the examiners. Signed Date. Director of Studies Abstract The yeast, Saccharomyces cerevisiae requires certain elements for the growth and development of healthy cultures. The divalent cation, zinc is of paramount importance to this yeast, as zinc is a structurally and functionally essential metal that cannot be replaced by any other element. Zinc accumulation by S. cerevisiae is a biphasic response, consisting of a rapid metabolism independent and a metabolism dependent phase. Metabolism-independent metal ion accumulation is a physical process, whereby the ions are associated with the cell wall. This stage of uptake is often referred to as biosorption and zinc uptake is influenced by temperature, pH, biomass concentration and the presence of competing ions. The second phase of zinc uptake (metabolism-dependent metal ion accumulation) concerns the intracellular accumulation of the ions. This biological accumulation, often abbreviated to bioaccumulation, is slower than biosorption as the zinc ions are transported into the cell, via the plasma membrane by the energy consuming process, active transport. The presence and type of metabolisable energy source, metabolic inhibitors, as well as the factors that affect biosorption also affect bioaccumulation. The genetics governing zinc accumulation by S. cerevisiae has recently been unravelled (Zhao and Eide, 1996a & b). Research has shown that a high (ZRT1) and a low (ZRT2) affinity transporter proteins exists, which act in zinc limiting and zinc replete conditions, respectively. -
Osseous Manifestations of Primary Hyperparathyroidism: Imaging Findings
Hindawi International Journal of Endocrinology Volume 2020, Article ID 3146535, 10 pages https://doi.org/10.1155/2020/3146535 Review Article Osseous Manifestations of Primary Hyperparathyroidism: Imaging Findings Jackson Bennett ,1 James W. Suliburk ,2 and Fanny E. Moro´n 3 1School of Medicine, Baylor College of Medicine, Houston, TX, USA 2Department of Surgery, Baylor College of Medicine, Houston, TX, USA 3Department of Radiology, Baylor College of Medicine, Houston, TX, USA Correspondence should be addressed to Fanny E. Mor´on; [email protected] Received 13 September 2019; Revised 10 December 2019; Accepted 8 January 2020; Published 21 February 2020 Academic Editor: Giorgio Borretta Copyright © 2020 Jackson Bennett et al. -is is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Primary hyperparathyroidism is a systemic endocrine disease that has significant effects on bone remodeling through the action of parathyroid hormone on the musculoskeletal system. -ese findings are important as they can aid in distinguishing primary hyperparathyroidism from other forms of metabolic bone diseases and inform physicians regarding disease severity and complications. -is pictorial essay compiles bone-imaging features with the aim of improving the diagnosis of skeletal in- volvement of primary hyperthyroidism. 1. Introduction the symptomatic classical variant in some individuals [2, 4]. Other HPT disease subtypes include secondary and tertiary Hyperparathyroidism (HPT) is an endocrine disorder de- disease, which are primarily seen in patients with chronic fined by a state of inappropriately increased levels of renal disease and posttransplant patients [7]. -
Biological Sciences Title of Case Stud
Impact case study (REF3b) Institution: University of Dundee Unit of Assessment: 5: Biological Sciences Title of case study: Creation of the spin out company Dundee Cell Products (DCP) and impact on commercialisation of life sciences technology and reagents from the University of Dundee. 1. Summary of the impact (indicative maximum 100 words) As sophisticated proteomics methodologies are increasingly embraced by both academics and industry across the globe, growth in this area is set to explode. The University of Dundee has a leadership position in quantitative proteomics technology, through the expertise of Professor Angus Lamond. Dundee Cell Products Ltd is a University of Dundee spin-out company that was created to commercialise life sciences technology and reagents, and to exploit technology and expertise in proteomics developed at the College of Life Sciences. As of 2013, DCP offers >5,000 research products and six contract research services, centred around quantitative proteomics. 2. Underpinning research (indicative maximum 500 words) In 1998, a seminal study by Prof Angus Lamond FRS at the University of Dundee, in collaboration with Prof Matthias Mann (then based in EMBL, Heidelberg), provided insight into proteins that control the human spliceosome using mass spectrometry (1). This was one of the first studies to reveal the power of mass spectrometry to biologists and highlighted the potential of using this technique to simultaneously identify all or most of the proteins components of human macromolecular complexes, organelles and cells. In 2000-2001, research by Dr Paul Ajuh, then a postdoctoral fellow in the laboratory of Prof Lamond, provided further insight into the composition of the spliceosome complex and demonstrated the involvement of the CDC5L protein complex in spliceosome assembly (2,3). -
Osteogenesis Imperfecta: Recent Findings Shed New Light on This Once Well-Understood Condition Donald Basel, Bsc, Mbbch1, and Robert D
COLLABORATIVE REVIEW Genetics in Medicine Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition Donald Basel, BSc, MBBCh1, and Robert D. Steiner, MD2 TABLE OF CONTENTS Overview ...........................................................................................................375 Differential diagnosis...................................................................................380 Clinical manifestations ................................................................................376 In utero..........................................................................................................380 OI type I ....................................................................................................376 Infancy and childhood................................................................................380 OI type II ...................................................................................................377 Nonaccidental trauma (child abuse) ....................................................380 OI type III ..................................................................................................377 Infantile hypophosphatasia ....................................................................380 OI type IV..................................................................................................377 Bruck syndrome .......................................................................................380 Newly described types of OI .....................................................................377