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]

PRESENTATION OF OSTEOGENESIS IMPERFECTA The presentation of disease varies widely across patient populations. It often varies in severity as you move from type I (mild) to type IV (severe). [gwumc.edu]

The severity of the clinical presentation depends upon the effect of the mutation ( table 1 and table 2 ) [ 3-7 ]. [uptodate.com]

• 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]

  Silence type I to IV Type-I: 70% of total case, bone density reduced 60% of normal, mild short stature & variable bone fragility. [slideshare.net]

  All of these children had short stature, low bone density, and severe vertebral compression fractures in addition to multiple long bone fractures in the first years of life. [jmg.bmj.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]

• Leg Pain

  […] and leg 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 which remain intensely blue throughout life, in contrast to the sclerae in OI type III and OI type IV which may also be blue at birth and during infancy. [edoj.org.eg]

  The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae. [ncbi.nlm.nih.gov]

• 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]

Osteogenesis Imperfecta: Differential Diagnosis & Workup. http://emedicine.medscape.com/article/1256726-diagnosis. Website updated: 2008. Website accessed: April 5, 2010. ↑ Gahagan S, Rimsza ME. [physio-pedia.com]

Establishing a diagnosis As with any disorder, a detailed history is a crucial element of the diagnostic workup. [nature.com]

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]

After 12 months of cyclic pamidronate treatment, he could walk with the aid of a cane. [raredisorders.imedpub.com]

One study published in the Indian Journal of Medicine, called Results of a bone splint technique for the treatment of lower limb deformities in children with type I osteogenesis imperfecta by Ling et al. shows that patients given treatment through this [bsj.berkeley.edu]

TREATMENT Osteogenesis imperfecta in childhood: treatment strategies. Engelbert RH, Pruijs HE, Beemer FA, Helders PJ. [thedoctorsdoctor.com]

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]

PMID 12014624 Association of beta-catenin, Wnt1, Smad4, Hoxa9, and Bmi-1 with the prognosis of esophageal squamous cell carcinoma. Lv J, Cao XF, Ji L, Zhu B, Wang DD, Tao L, Li SQ. Med Oncol. 2012 Mar;29(1):151-60. doi: 10.1007/s12032-010-9816-5. [atlasgeneticsoncology.org]

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]

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]

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]

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 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]

Epidemiology of Scoliosis in Children It can occur on the left or right side or both sides of the different spine sections. [lecturio.com]

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]

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]

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]

Rodding is also done to stabilize long bones and to prevent fractures. [lecturio.com]

Prevention As a congenital birth defect, OI cannot be prevented. Individuals at risk of having a child with OI should be encouraged to undergo genetic counseling to more accurately determine their chances of having a child with OI. [healthofchildren.com]

Prompt reduction of fractures is important to the prevention of deformities. A multidisciplinary team is important for the treatment and rehabilitation of patients. References References Byers PH, Pyott SM. [disorders.eyes.arizona.edu]