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X-Linked Osteoporosis with Fractures


Presentation

  • The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including[books.google.com]
  • Osteoporosis-Pseudoglioma Syndrome Clinical Characteristics Ocular Features: Retrolental masses often present at birth have been mistaken for retinoblastomas.[disorders.eyes.arizona.edu]
  • In cases where osteoporosis is present, the holes and spaces in the honeycomb appear much bigger than those found in a healthy bone. Women and older adults are more at risk for developing osteoporosis.[radiologyinfo.org]
  • Review both the current surgical and medical clinical care paradigms for patients presenting with Atypical Femur fractures. Length: 60 minutes[asbmr.org]
  • Results: Hemizygous male carriers presented with multiple peripheral bone fractures, low bone mineral density (BMD), and vertebral compression fractures.[karger.com]
Anemia
  • […] defects - cleft lip / palate Bladder exstrophy EEC syndrome Limb-mammary syndrome Split hand-split foot malformation Atelosteogenesis type I Atelosteogenesis type III Autosomal dominant Larsen syndrome Boomerang dysplasia Chuvash erythrocytosis Fanconi anemia[csbg.cnb.csic.es]
  • Diagnosis of Fanconi anemia: mutation analysis by next-generation sequencing. Anemia 2012 ;2012: 132856 - 132856 10. Clarke L, Zheng-Bradley X, Smith R, et al. The 1000 Genomes Project: data management and community access.[nejm.org]
  • Liver failure, testicular atrophy, pulmonary fibrosis, aplastic anemia, and osteoporosis along with features of aging such as premature grey hair and loss are typical.[disorders.eyes.arizona.edu]
Pharyngitis
  • Since cartilaginous pharyngeal arches are the earliest formed craniofacial skeletal elements, we used a col1a1:eGFP (enhanced green fluorescent protein under the control of a col1α1-promoter) transgenic zebrafish line to monitor skeletal development.[nejm.org]
Periodontitis
  • Response of periodontal ligament fibroblasts and gingival fibroblasts to pulsating fluid flow: nitric oxide and prostaglandin E2 release and expression of tissue non-specific alkaline phosphatase activity. J Periodontal Res 2000 ;35: 335 - 343 15.[nejm.org]
  • Treatment Treatment Options: Treatment is directed at specific problems such as fractures, glaucoma, and periodontal disease.[disorders.eyes.arizona.edu]
Recurrent Fractures
  • New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included.[books.google.com]
  • It is clinically characterized by recurrent fractures, mild bone deformities, generalized osteoporosis, delayed eruption of teeth, absence of dentinogenesis imperfecta, normal hearing, and white sclera. 24 OI type XIII (OMIM # 614856) was described as[jped.elsevier.es]
Catatonia
  • […] techniques and approaches with complete updates throughout 35 new chapters, including: Innovations in Addressing Child Health and Survival in Low Income Settings; Developmental Domains and Theories of Cognition; The Reggio Emilia Educational Approach Catatonia[books.google.de]
Waddling Gait
  • Apart from a waddling gait in two brothers (Patients 1.IV-7 and 1.IV-8), which disappeared for unknown reasons, no neuromuscular abnormalities were reported. Available radiographs did not show abnormalities in bone size or shape.[nejm.org]

Workup

Erythrocytosis
  • Ankyloblepharon - ectodermal defects - cleft lip / palate Bladder exstrophy EEC syndrome Limb-mammary syndrome Split hand-split foot malformation Atelosteogenesis type I Atelosteogenesis type III Autosomal dominant Larsen syndrome Boomerang dysplasia Chuvash erythrocytosis[csbg.cnb.csic.es]
Kingella
  • Refeeding Syndrome; Altitude-associated Illness; Genetic Approaches to Rare and Undiagnosed Diseases; Healthcare Associated Infections; Intrapartum and Peripartum Infections; Bath salts and other drugs of abuse; Small Fiber Polyneuropathy; Microbiome; Kingella[books.google.de]

Treatment

  • Form a definitive diagnosis and create the best treatment plans possible using evidence-based medicine and astute clinical experiences from leading international authors—many new to this edition.[books.google.de]
  • Advances have been made in the underlying genetic basis for many conditions in conjunction with progress in bone density and geometry imaging and the development of new treatment options.[books.google.com]
  • Your doctor takes this into account when they periodically review your treatment. If you've been taking your medication for five years or more Ask your doctor whether you need to stay on the treatment.[nos.org.uk]
  • "The number of patients receiving the treatment is quite low at present, but we are hoping this study will mean more prednisolone patients will receive the fracture-preventing treatment," he continues.[medicalxpress.com]
  • […] those patients who would benefit from treatment versus those who actually are receiving it.[touchendocrinology.com]

Prognosis

  • Prognosis is very variable depending on type ranging from being uniformly lethal from type II to a slight reduction in life expectancy for type I.[radiopaedia.org]

Etiology

  • This variant was also associated with a risk of fracture among elderly heterozygous women that was two times as high as that among noncarriers, which indicates that genetic variation in PLS3 is a novel etiologic factor involved in common, multi-factorial[ncbi.nlm.nih.gov]
  • Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. {ECO:0000269 PubMed:24088043}.[genecards.org]
  • Furthermore, the discovery of a rare variant, associated with a twofold increased fracture risk in elderly females, indicates genetic variation in the identified candidate gene as a novel etiological factor involved in osteoporosis.[ashg.org]
  • Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs.[uniprot.org]

Epidemiology

  • […] type MMEP syndrome Synonym(s): (no synonyms) Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue - Epidemiological[csbg.cnb.csic.es]
  • Department of Developmental Biology, University of Cologne, Cologne, Germany; 14 Department of Oral Cell Biology, ACTA, University of Amsterdam and VU University Amsterdam, MOVE Research Institute Amsterdam, Amsterdam, the Netherlands; 15 Department of Epidemiology[bone-abstracts.org]
  • Epidemiologic Studies The minor allele frequencies of the rs140121121 SNP in men and women, respectively, in the RS-I, RS-II, and RS-III cohorts were 0.022 and 0.016, 0.024 and 0.017, and 0.012 and 0.016.[nejm.org]
  • Clinical epidemiology of inflammatory bowel disease: Incidence, prevalence, and environmental influences. Gastroenterology. 2004;126:1504-1517. Khalili H, Ananthakrishnan AN, Konijeti GG, et al.[crohnsdisease.com]
  • Department of Developmental Biology, University of Cologne, Cologne, Germany; 14) Department of Oral Cell Biology, ACTA, University of Amsterdam and VU University Amsterdam, MOVE Research Institute Amsterdam, Amsterdam, the Netherlands; 15) Department of Epidemiology[ashg.org]
Sex distribution
Age distribution

Pathophysiology

  • Evidence Rating Level: 2 (Good) Study Rundown: Osteoporosis is a multifactorial disease with a complex pathophysiology involving both genetic and environmental factors.[2minutemedicine.com]

Prevention

  • Alendronate (10 mg/day) is more effective than alfacalcidol (1 microgram/day) in the prevention of costicosteroid-induced bone loss. 7 However, calcitriol is at least as effective as alendronate in preventing bone loss in corticosteroid users. 8 Table[nps.org.au]
  • Dr Clunie says: “Ideally, GPs can use FRAX as a primary fracture prevention screening tool for people over 50, and consider preventive drug treatment, for example with a bisphosphonate, for those with a high risk score of 15 to 20 per cent or more.”[healthawareness.co.uk]
  • Preventing these fractures could reduce back pain and related disability in older men, the authors conclude.[reuters.com]
  • It's unlikely any company will invest large amounts of money on a randomized trial to investigate whether it prevents hip fractures in cortisone patients.[medicalxpress.com]

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