Osteogenesis Imperfecta (brittle bone disease) News This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Risk perception for fractures and its related factors among family caregivers of underage patients with osteogenesis imperfecta in China: a cross-sectional study - Wang M, Wang LL, Zhong YP, Wang XY, Wang LY, Shi T, Yang LJ, Ji J.
PURPOSE: To describe the level of risk perception for fractures among family caregivers of children diagnosed with osteogenesis imperfecta, and explore the related factors. DESIGN AND METHODS: This was a cross-sectional survey study. A self-administered qu... (Source: SafetyLit)
Source: SafetyLit - March 16, 2024 Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news

NIH Awards UAMS $1.5M to Tackle Brittle Bone Disease
A research team at the University of Arkansas for Medical Sciences is using a $1.54 million grant to help find better treatments for osteogenesis imperfecta, also known as brittle bone disease. (Source: Arkansas Business - Health Care)
Source: Arkansas Business - Health Care - November 16, 2023 Category: American Health Source Type: news

Congenital syphilis as the cause of multiple bone fractures in a young infant case report - Koliou M, Chatzicharalampous E, Charalambous M, Aristeidou K.
BACKGROUND: The differential diagnosis of multiple unexplained bone fractures in a young infant usually includes child abuse or bone disease such as osteogenesis imperfecta. Bone abnormalities can occur in 60-80% of cases with congenital syphilis and may b... (Source: SafetyLit)
Source: SafetyLit - December 26, 2022 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

What is the Current Classification for Ehlers-Danlos Syndrome?
Discussion As with any potential problem there is a often a range from normal to abnormal and this is true for joint hypermobility. Generalized joint hypermobility is hypermobility in multiple joints with few or no other symptoms. Generalized hypermobility spectrum disorder (also known as joint hypermobility syndrome) has hypermobility along with other symptoms such as pain, reduced muscle strength, and decreased proprioception and balance. Other clinical entities with hypermobility include Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta. In the office, a 5-point questionnaire with 2 or more “yes...
Source: PediatricEducation.org - December 5, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

What Causes Kyphosis?
Discussion There are 3 planes to view and describe spinal deformities from: Coronal or frontal plane – the view is from front or back of the patient Sagittal plane – is the view from the side of the patient Transverse or horizontal plane – is the view from the top or bottom of the patient Normally the spine is straight when viewed from the frontal or coronal plane. Normally the spine also has a small kyphosis in the thoracic region (20-45%) and lordosis in the sacral region when viewed laterally in the sagittal plane. Scoliosis or abnormal deviation of the spinal laterally is the most common spinal defo...
Source: PediatricEducation.org - August 8, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

What is in the Differential Diagnosis for Green, Blue or Violet Skin Conditions?
Discussion Acrocyanosis is commonly seen in the newborn period as the baby transitions to extra-uterine life. It appears as blue-purple coloration of the distal extremities which usually improves over several hours. Blue melanocytosis is also a common normal variant of skin color. It usually is seen on the posterior surface of the body around the spine and buttocks, but can also be on the upper parts of the extremities. It is a blue-black coloration that shows a normal skin undertone when palpated. This is the second in a short case series of differential diagnoses of colored skin conditions. An introduction to dermatologi...
Source: PediatricEducation.org - May 2, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Early Trial Offers Hope Treating Rare 'Brittle Bone' Disease
An early study suggests an experimental drug may help build bone mass in some adults with a rare brittle-bone disease. (Source: WebMD Health)
Source: WebMD Health - March 25, 2022 Category: Consumer Health News Source Type: news

Early Trial Offers Hope Treating Rare'Brittle Bone' Disease
Title: Early Trial Offers Hope Treating Rare ' Brittle Bone ' DiseaseCategory: Health NewsCreated: 2/21/2022 12:00:00 AMLast Editorial Review: 2/22/2022 12:00:00 AM (Source: MedicineNet Arthritis General)
Source: MedicineNet Arthritis General - February 22, 2022 Category: Rheumatology Source Type: news

Child abuse and/or osteogenesis imperfecta? The challenging management of patients with unclear diagnosis - Nieke JP, Van As AB.
It can be difficult to distinguish between the symptoms of osteogenesis imperfecta and child abuse... Language: en... (Source: SafetyLit)
Source: SafetyLit - December 6, 2021 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

What Are the Clinical Characteristics of the Most Common Skeletal Dysplasia?
Discussion With more than 200 skeletal dysplasias and multiple variations even for one dysplasia, it can be difficult for the general practitioner to know a lot of specific information about all the skeletal dysplasias. Achondroplasia (ACP) is the most common skeletal dysplasia and specifically short-limbed dwarfism. The incidence is about 1 in 15-40,000 live births. ACP is autosomal dominant with about 80% arising from new mutations with a single nucleotide substitution in the fibroblast growth factor receptor 3 (FGFR3) gene on chromosome 4. This gene regulates the conversion of cartilage to bone, with the problem showing...
Source: PediatricEducation.org - November 1, 2021 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Genetics of osteogenesis imperfecta in suspected child abuse [reply] - Pfeifer CM, Car é MM, Servaes S, Milla SS.
[The publisher has not provided an abstract for this article.] Language: en... (Source: SafetyLit)
Source: SafetyLit - August 28, 2021 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

Genetics of osteogenesis imperfecta in suspected child abuse [letter] - Pals G, Stolk SA.
[The publisher has not provided an abstract for this article.] Language: en... (Source: SafetyLit)
Source: SafetyLit - August 28, 2021 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

Perfecting collagen production in osteogenesis imperfecta
(Medical University of South Carolina) Mesenchymal stem cells are the origin for osteoblasts, but MSC transplantation has not resulted in long-term success as a treatment option for brittle bone disease. Hematopoietic stem cells usually give rise to blood cells and osteoclasts, but researchers hypothesized that they could give rise to osteoblasts too. By replacing osteoblasts, they offer a potential therapeutic opportunity that is not dependent on a specific mutation but simply on a mutation being present, which gives patients hope. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 22, 2021 Category: International Medicine & Public Health Source Type: news

Understanding the cause of joint and tendon dysfunction in osteogenesis imperfecta
(Baylor College of Medicine) Researchers at Baylor College of Medicine have identified a protein signaling mechanism driving join dysfunction in OI and find that inhibiting this signaling pathway can prevent onset of tendinopathy problems in mouse models. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 14, 2021 Category: International Medicine & Public Health Source Type: news

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