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Osteogenesis imperfecta and child abuse from a forensic point of view - Altalib A, Althomali A, Alshahrani A, Alfrayyan A, Aljughaiman MS.
Osteogenesis imperfecta (OI) also called brittle bone disease is a rare genetic disorder that results from a defect in type 1 collagen, which is a main structural protein involved in the structure of bones, tendons, ligaments, the dentin layer of teeth, an... (Source: SafetyLit)
Source: SafetyLit - March 4, 2021 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

What Is the Life Expectancy of Someone With Osteogenesis Imperfecta?
Title: What Is the Life Expectancy of Someone With Osteogenesis Imperfecta?Category: Diseases and ConditionsCreated: 2/12/2021 12:00:00 AMLast Editorial Review: 2/12/2021 12:00:00 AM (Source: MedicineNet Kids Health General)
Source: MedicineNet Kids Health General - February 12, 2021 Category: Pediatrics Source Type: news

Bryan Sykes obituary
Human geneticist who proposed that every European could trace their ancestry to one of seven women living thousands of years agoThe human geneticist Bryan Sykes, who has died aged 73, pushed forward the analysis of inherited conditions such as brittle bone disease and double-jointedness, and was one of the first to extract DNA from ancient bone.The same Bryan Sykes, holder of a personal chair at Oxford University, analysed hair supposedly taken from mythical hominids such as the Bigfoot and Yeti, and announced the results in a three-part television series. His delight in science and enthusiasm for communicating it to popul...
Source: Guardian Unlimited Science - December 18, 2020 Category: Science Authors: Georgina Ferry Tags: Genetics Biology Science University of Oxford Channel 4 Media Source Type: news

Mimic for child physical abuse: biochemical and genetic evidence of hypophosphatasia without classic radiologic findings - Zarei K, Bernat JA, Sato Y, Segal R, Bhoojhawon G.
We present a case of infantile hypophosphatasia... (Source: SafetyLit)
Source: SafetyLit - December 16, 2020 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

Molecular alterations in the extracellular matrix in the brains of newborns with congenital Zika syndrome
Zika virus (ZIKV) infection during pregnancy can cause a set of severe abnormalities in the fetus known as congenital Zika syndrome (CZS). Experiments with animal models and in vitro systems have substantially contributed to our understanding of the pathophysiology of ZIKV infection. Here, to investigate the molecular basis of CZS in humans, we used a systems biology approach to integrate transcriptomic, proteomic, and genomic data from the postmortem brains of neonates with CZS. We observed that collagens were greatly reduced in expression in CZS brains at both the RNA and protein levels and that neonates with CZS had sev...
Source: Signal Transduction Knowledge Environment - June 8, 2020 Category: Science Authors: Aguiar, R. S., Pohl, F., Morais, G. L., Nogueira, F. C. S., Carvalho, J. B., Guida, L., Arge, L. W. P., Melo, A., Moreira, M. E. L., Cunha, D. P., Gomes, L., Portari, E. A., Velasquez, E., Melani, R. D., Pezzuto, P., de Castro, F. L., Geddes, V. E. V., Ge Tags: STKE Research Resources Source Type: news

Exciting opportunities at Birmingham Children ’s Hospital, UK
This is an excellent opportunity to join one of the largest Paediatric Endocrinology and Bone departments in the UK.Clinical Research Fellow in Metabolic bone DiseaseWe are seeking to appoint to the above post commencing from July 2019. This post is funded as part of the nationally funded highly specialised service for complex and atypical Osteogenesis Imperfecta and provides post CCT fellowship training. It is suitable for applicants with training in Endocrinology from the UK or overseas who wish to extend their knowledge and skills in endocrinology metabolic bone disease in a ERN recognised specialised centre for rare en...
Source: Society for Endocrinology - September 24, 2019 Category: Endocrinology Source Type: news

Twins, 17 months, defy the odds after doctors gave them a '0% chance of survival'
Claire Mowforth, 34, from Hull, was told her daughters Amelia-Grace and Hope-Elizabeth had osteogenesis imperfecta, or brittle born disease, while she was still pregnant. (Source: the Mail online | Health)
Source: the Mail online | Health - September 9, 2019 Category: Consumer Health News Source Type: news

Beware of osteogenesis imperfecta: subdural hematoma in a 10-year-old child with minor head trauma - Dinca EB, Carron R.
Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by disruption of normal collagen formation resulting in varying degrees of ligamentous laxity and skeletal vulnerability; the low bleeding potential is easily overlooked. Subdural hemato... (Source: SafetyLit)
Source: SafetyLit - July 3, 2019 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

Neurosurgical implications of osteogenesis imperfecta in a child after fall: case illustration - Moscote-Salazar LR, Koller O, Valenzuela S, Narvaez-Rojas A, Satyarthee GD, Mo-Carrascal J, Maraby J.
Osteogenesis imperfecta (OI) is a group of hereditary genetic pathologies of connective tissue, which is characterized by bone fragility and fractures. It is classified into types I, II, III, IV, V, and VI. The disorder is caused by an autosomal-dominant m... (Source: SafetyLit)
Source: SafetyLit - April 4, 2019 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

Osteogenesis Imperfecta and Implant Treatment?
I have a 67 year old patient who wants implant supported replacement of failed upper anterior bridgework, but has Ostegenesis Imperfecta Type 1.The postOsteogenesis Imperfecta and Implant Treatment? appeared first onOsseoNews Dental Implants. (Source: Dental Implants Discussed by Experts)
Source: Dental Implants Discussed by Experts - February 18, 2019 Category: Dentistry Authors: osseonews Tags: Clinical Questions Surgical Source Type: news

Baby boy has rare condition that means even a sneeze could leave him with a broken bone
Theo Osborne, of Washington, US, was diagnosed with osteogenesis imperfecta before birth. He was born with six rib fractures, a broken collar bone and two broken legs. (Source: the Mail online | Health)
Source: the Mail online | Health - January 7, 2019 Category: Consumer Health News Source Type: news

In the Loop: Brittle bone disease can't dim this little girl's unbreakable spirit
Ellie Butts was born with a disease that causes her bones to easily break. So easily that at just 2 years old, she's had more than 100 broken bones. Yet despite the pain, she "radiates joy and love." Terrye and Brian Butts were a month away from welcoming their second child when Terrye's doctor noticed [...] (Source: News from Mayo Clinic)
Source: News from Mayo Clinic - December 25, 2018 Category: Databases & Libraries Source Type: news

UCLA researchers identify common molecular mechanism in two skeletal disorders
FINDINGSA rare and as-yet-unnamed skeletal disorder shares a common “signaling pathway” with another rare skeletal disorder called Jansen metaphyseal chondrodysplasia. (A signaling pathway is a group of molecules in a cell that work together to control one or more cell functions.) The findings point to the mechanisms that control both normal and disordered devel opment of the skeleton, and could even lead to a novel target for cancer drugs. BACKGROUNDSkeletal disorders, or dysplasias — such as brittle bones or very short limbs — can arise from genetic mutations that affect the development of cartilage and bone. ...
Source: UCLA Newsroom: Health Sciences - October 9, 2018 Category: Universities & Medical Training Source Type: news

Soya helps fight bone problems
BRITTLE bone disease can be staved off by adding soya to your diet, scientists have found. Foods tofu, tempeh, edamame, soya sauce and soya milk are rich in compounds that mimic the effect of oestrogen. (Source: Daily Express - Health)
Source: Daily Express - Health - August 9, 2018 Category: Consumer Health News Source Type: news

Brittle bone disease: Young adults could soon be screened DECADES before symptoms appear
YOUNG adults could soon be screened for brittle bone disease - decades before symptoms appear. (Source: Daily Express - Health)
Source: Daily Express - Health - July 26, 2018 Category: Consumer Health News Source Type: news