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Osteogenesis Imperfecta Type 15

OI


Presentation

  • He is Executive Advisory Editor of Bone Research (2013-present).[books.google.com]
  • In addition to this some key clinical observations may be present such as: Blue Sclerae (whites of the eyes) – this is a characteristic feature of OI Type 1 but is not present in all forms of OI.[oiaustralia.org.au]
  • The mild form results in fractures, whereas the severe form presents more like a syndrome constituting a pattern of disorders.[lecturio.com]
  • Complications Complications are largely based on the type of OI present. They are often directly related to the problems with weak bones and multiple fractures.[medicalmarijuana.com]
  • None of the type V patients presented blue sclerae or dentinogenesis imperfecta, but ligamentous laxity was similar to that in patients with OI type IV.[ncbi.nlm.nih.gov]
Short Stature
  • OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae. Tooth development and hearing are normal.[malacards.org]
  • Short stature. Spine curves. Low Bone Density. Loose joints, ligament laxity and muscle weakness are common. Distinctive features of the skull including late closing fontanels, and head circumference greater than average.[oif.org]
  • OI may also result in: short stature, blue tinted sclerae (the white of the eyes), hearing loss, brittle teeth, muscle weakness, hypermobility and restricted breathing.[oiaustralia.org.au]
  • Short stature, spinal curvature and barrel-shaped rib cage 4. Bone deformity is mild to moderate 5.[medicalmarijuana.com]
Fatigue
  • License: CC BY-SA 2.5 Bruises Blue color of sclera Breathing problems Bowing of legs Scoliosis or curved spine Early hearing loss and deafness Fatigue Fragile skin Weak muscles Loose joints Short stature In the mild form, fewer signs are present such[lecturio.com]
  • Fatigue. Basilar Invagination a serious neurological problem is seen in some people with the more severe forms of OI. Skin, blood vessels and internal organs may be fragile. OI exhibits wide variation in appearance and severity.[oif.org]
  • General fatigue during daily activities is a common complaint and because muscle strength and exercise tolerance is reduced in OI, maintaining physical health is paramount to good general health.[nature.com]
Vietnamese
  • The populations include African Americans, Vietnamese, Burmese, Samoan and First Nation Canadians.[uwcpdx.org]
  • Thanh Nhan, Ele Prans, Ene Reimann, Lidiia Zhytnik, Sulev Kõks & Aare Märtson International Orthopaedics (2017) Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta Binh Ho Duy, Lidiia Zhytnik, Katre Maasalu[nature.com]
Cerebral Palsy
  • These cases often occur as a consequence of the following abnormalities: Infections Tumors Injuries Neuromuscular conditions Spina Bifida Cerebral palsy Muscular dystrophy Tumors of the spinal cord Neurofibromatosis Paralytic conditions Symptoms of Scoliosis[lecturio.com]
  • Castillo H, Samson-Fang L, American Academy for Cerebral Palsy and Developmental Medicine Treatment Outcomes Committee Review Panel. Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review.[emedicine.medscape.com]
Hunting
  • Home Style Hunt STYLE HUNT: LIFWEEK OI’15 DÍA 5 Posted on April 1, 2015 By Alessandra Mazzini Leave a comment Fotos: Lucía Alfaro para Fashion in da hat Comments comments Related Photos Style Hunt: Lifweek OI’15 día 1 Style Hunt: LifWeek Invierno ’14[fashionindahat.com]
Nausea
Leg Pain
  • pain Rarely, bowel and bladder problems can arise Diagnosis of Scoliosis in Children The early detection is essential for an effective treatment.[lecturio.com]
Blue Sclera
  • Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae.[malacards.org]
  • sclerae and wormian bones but without fractures Osteopenic Nonfracture Syndrome osteoporosis-pseudoglioma syndrome[rgd.mcw.edu]
  • sclerae, death for respiratory insufficiency and pneumonias.[iofbonehealth.org]
  • None of the type V patients presented blue sclerae or dentinogenesis imperfecta, but ligamentous laxity was similar to that in patients with OI type IV.[ncbi.nlm.nih.gov]
  • […] weight SGA Head large for body size Usually blue-gray sclera Markedly reduced ossification Underdeveloped lungs Type III (progressive deforming form) Bones fracture easily - fractures present at birth Bone deformity sometimes severe Short stature Blue[en.wikibooks.org]
Fear
  • Finally, Mike Evans compared the major difference between Europe and America being that here, the fear of failure for an individual is far greater.[crimsonhexagon.com]
  • Children often develop a fear of trying new ways of moving due to movement being associated with pain. This can make physiotherapy difficult to administer to young children.[medicalmarijuana.com]
Anger
  • Other differential diagnoses include rickets, osteomalacia, and other rare skeletal syndromes. [ edit ] Family attitudes depend on previous experience with OI Surprise, shock, anger, guilt, depression, and mourning common in parents with new diagnosis[en.wikibooks.org]
Distractibility
  • […] fans who also own “Orthrelm I” probably the best full length from Krallice yet. the song structures are amazing and definitely worth prying into, don't listen to this while doing other things without sitting down and paying attention first without any distractions[orthrelm.bandcamp.com]
Denial
Dizziness

Workup

  • Osteogenesis Imperfecta: Differential Diagnosis & Workup. . Website updated: 2008. Website accessed: April 5, 2010. Gahagan S, Rimsza ME. Child Abuse or Osteogenesis Imperfecta: How Can We Tell?. Journal of Pediatrics; 88(5): 987-992. 1991.[physio-pedia.com]
  • Establishing a diagnosis As with any disorder, a detailed history is a crucial element of the diagnostic workup.[nature.com]

Treatment

  • Treatment of Scoliosis in Children The treatment of scoliosis is dependent on many factors, which include: The child’s age and medical history Causes Extent or severity of the condition Expected duration of treatment Opinions or preferences The goal is[lecturio.com]
  • Treatment of osteoclasts with LPS significantly increased levels of AEA.[medicalmarijuana.com]
  • Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity[books.google.com]
  • Treatments under study include growth hormone, and gene therapies. The search continues for a drug treatment that is specific for OI. Healthy Lifestyle.[oif.org]
  • ,-L; Osteogenesis imperfecta: practical treatment guidelines.; Paediatr-Drugs. 2000 Nov-Dec; 2(6): 465-88 Ziyeh,-S; Berger,-R; Reisner,-K; MRI-visible pericochlear lesions in osteogenesis imperfecta type I.; Eur-Radiol. 2000; 10(10): 1675-7 Cassella,-[malattierare.regione.veneto.it]

Prognosis

  • The management and prognosis of OI are discussed separately. (See "Osteogenesis imperfecta: Management and prognosis" .) EPIDEMIOLOGY The estimated incidence of OI is approximately 1 per 20,000 births [ 1 ].[uptodate.com]
  • Prognosis: The prognosis often depends on the type of OI and thus the severity of the disease. Type I patients often have a normal life expectancy.[gwumc.edu]
  • This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae.[ncbi.nlm.nih.gov]
  • 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]
  • […] because it is mildest form Type III often causes fractures at birth, and fractures may occur in utero Compatible with long life, but many die in infancy of respiratory difficulties or in childhood of pneumonia Early intervention and rehab have improved prognosis[en.wikibooks.org]

Etiology

  • Etiology of Osteogenesis Imperfecta Osteogenesis Imperfecta is an inherited disorder that runs in the family. Spontaneous mutations can also occur at the time of conception.[lecturio.com]
  • Etiology OI type III can be autosomal dominant and caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively), or it can be autosomal recessive and caused by mutations of the CRTAP gene (3p22) (sometimes described as OI[orpha.net]
  • Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs.[ghr.nlm.nih.gov]
  • However, these disorders, while clinically sharing some features of true OI, are better designated as separate conditions based on their unique molecular etiologies. Treatment Treatment Options: Avoidance of trauma is paramount.[disorders.eyes.arizona.edu]
  • With regards to an etiological diagnosis, collagen analysis and genetic testing is advantageous, but not always necessary.[spandidos-publications.com]

Epidemiology

  • Vancouver BIBTEX RIS @inbook{9b1bf6ac42b449de91248d0e2036dbe7, title "Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology", abstract "Osteogenesis imperfecta is described as a {"}rare{"} disorder occurring in approximately[jhu.pure.elsevier.com]
  • Summary Epidemiology The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type III is unknown.[orpha.net]
  • Epidemiology of Scoliosis in Children It can occur on the left or right side or both sides of the different spine sections.[lecturio.com]
  • EPIDEMIOLOGY The estimated incidence of OI is approximately 1 per 20,000 births [ 1 ]. This qualifies it as an orphan disease, which is defined in the United States as a disease affecting 200,000 patients or less.[uptodate.com]
  • EPIDEMIOLOGY AND PREVALENCE Osteogenesis Imperfecta occurs in approximately 1 in 20,000 live births. More than 200 gene mutations have been associated with the OI phenotype.[gwumc.edu]
Sex distribution
Age distribution

Pathophysiology

  • However, in the past 10 years discoveries of further (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology [ 1 ].[patient.info]
  • This classification scheme is likely to change with additional research on pathophysiology of OI.[nature.com]
  • A multidisciplinary approach is required to manage the disease. [1, 2, 3] Pathophysiology In OI, pathologic changes are seen in all tissues of which type 1 collagen is an important constituent (eg, bone, ligament, dentin, and sclera).[emedicine.medscape.com]
  • Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep . 2007; 5(3):91–97. doi:10.1007/s11914-007-0023-z [CrossRef] Yao X, Carleton SM, Kettle AD, Melander J, Phillips CL, Wang Y.[healio.com]

Prevention

  • His research in musculoskeletal biology covers topics such as glucocorticoid signalling in bone and its effects on bone and systemic fuel metabolism and ageing; the biology of bone metastases; and the clinical efficacy of secondary fracture prevention[books.google.com]
  • Rodding is also done to stabilize long bones and to prevent fractures.[lecturio.com]
  • Other drugs that were developed to treat osteoporosis are also used to prevent age-related bone loss in adults who have OI. Teriparatide (a drug based on the parathyroid hormone) is one of them.[oif.org]
  • This is done to strengthen them and to correct and prevent deformities. This surgery is usually only performed on children when OI is severe enough to prevent walking.[clevelandclinic.org]
  • His treatment proved extremely useful in the rehabilitation and prevention of fractures; it was adopted throughout the world and still forms the basis for orthopedic treatment of OI.[medicalmarijuana.com]

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