JCI early table of contents for Jan. 27, 2014
(Journal of Clinical Investigation) This release contains summaries, links to PDFs, and contact information for the following newsworthy papers to be published online, Jan. 27, 2014, in the JCI: "Inhibition of kidney glucose transport improves hyperglycemia but increases glucose production," "Targetting lipid metabolism restores function in T cells from lupus patients," "Clinical evaluation of teriparatid treatment for osteogenesis imperfecta," and more... (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - January 27, 2014 Category: Cancer & Oncology Source Type: news

Fetal stem cell grafts successfully help brittle-bone babies
In an international collaboration, researchers from Sweden, Singapore and Taiwan successfully treated two babies with a congenital bone disease that causes stunted growth and repeated fracturing by injecting them in utero with bone-forming stem cells. Results of their longitudinal study have been published in the journal Stem Cells Translational Medicine.Osteogenesis imperfecta (OI) not only stunts the growth of those who suffer from this disease, but the repeated fractures it causes are painful. (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - December 19, 2013 Category: Consumer Health News Tags: Bones / Orthopedics Source Type: news

Brittle-bone babies helped by fetal stem cell grafts (Alpha Galileo, 16 December 2013)
An international consortium of researchers have published a study in Stem Cells Translational Medicine evaluated the success of a new treatment for brittle bone disease involving injecting bone-forming stem cells into babies in utero. Full link (Source: Society for Endocrinology)
Source: Society for Endocrinology - December 18, 2013 Category: Endocrinology Source Type: news

Vitamin D pills 'unnecessary' for healthy older people
The NHS could save millions by handing out fewer vitamin D prescriptions to over-50s because in most cases they do little to protect against brittle bone disease, a new study suggests.     (Source: Telegraph Health)
Source: Telegraph Health - October 10, 2013 Category: Consumer Health News Source Type: news

Oral Risedronate in Children With Mild Osteogenesis ImperfectaOral Risedronate in Children With Mild Osteogenesis Imperfecta
Children with mild osteogenesis imperfecta (OI) may benefit from treatment with oral risedronate, a new study suggests. Reuters Health Information (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - August 26, 2013 Category: Consumer Health News Tags: Pediatrics News Source Type: news

Mutation of the COL1A1 gene causing OI
Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder that manifests clinically as extreme bone fragility, brittleness and growth disorder. In this case report, Aftab et al. present the case of a young woman with a new diagnosis of OI following multiple low-trauma fractures throughout her childhood. This is also the first report of the novel mutation, c.3880_3883dup within exon 50 of the COL1A1 gene presenting with the phenotype of OI type 1. This case illustrates the importance of early diagnosis and instigation of an effective management plan through a multidisciplinary approach in patients with OI...
Source: Society for Endocrinology - July 17, 2013 Category: Endocrinology Source Type: news

Gene Discoveries Give Hope Against 'Brittle Bone' Disease
Title: Gene Discoveries Give Hope Against 'Brittle Bone' DiseaseCategory: Health NewsCreated: 5/8/2013 6:35:00 PMLast Editorial Review: 5/9/2013 12:00:00 AM (Source: MedicineNet Arthritis General)
Source: MedicineNet Arthritis General - May 9, 2013 Category: Rheumatology Source Type: news

Gene Discoveries Give Hope Against 'Brittle Bone' Disease
Scientists pinpoint mutation that appears to cause severe forms of bone loss Source: HealthDay Related MedlinePlus Pages: Genes and Gene Therapy, Osteoporosis (Source: MedlinePlus Health News)
Source: MedlinePlus Health News - May 8, 2013 Category: Consumer Health News Source Type: news

Mutations in WNT1 prompt bone disease in children and adults
Baylor College of Medicine researchers among those to report that gene mutations are connected to both early-onset osteoporosis and brittle bone disease osteogenesis imperfect. (Source: Baylor College of Medicine News)
Source: Baylor College of Medicine News - May 8, 2013 Category: Universities & Medical Training Source Type: news

What is the Differential Diagnosis of Multiple Fractures?
Discussion Bone mass, size and strength is at its peak in early adulthood. Multiple factors contribute to bone health including bone mass, hormonal balance, nutrition and weight bearing physical activity. Fractures are basically caused by too much force to be withstood by the bone. Abnormal momentary forces commonly occur in sports injuries such as this patient. When a child or young adult has several fractures, particularly clinically significant fractures, the possibility of an unidentified, underlying cause should be considered. According to the International Society for Clinical Densitometry, clinically significant fr...
Source: PediatricEducation.org - February 18, 2013 Category: Pediatrics Authors: Donna M. D'Alessandro, M.D. Tags: Uncategorized Source Type: news

A real-life China doll: Fragile Millie was born with THIRTY broken bones which fractured every time her mother moved during pregnancy
Millie Simpson, from Cheshire, has such a rare form of brittle bone disease that doctors predicted she would not survive her birth. (Source: the Mail online | Health)
Source: the Mail online | Health - January 27, 2013 Category: Consumer Health News Source Type: news

Child abuse and osteogenesis imperfecta: how can they be still misdiagnosed? A case report - D'Eufemia P, Palombaro M, Lodato V, Zambrano A, Celli M, Persiani P, De Bari MP, Sangiorgi L.
Osteogenesis imperfecta (OI) is a rare hereditary disease caused by mutations in genes coding for type I collagen, resulting in bone fragility. In literature are described forms lethal in perinatal period, forms which are moderate and slight forms where th... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - January 12, 2013 Category: Global & Universal Tags: Age: Infants and Children Source Type: news