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 [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

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

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

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