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Quantifying lower limb muscle weakness in Osteogenesis Imperfecta type IV
This study now assesses upper and lower extremity muscle function finding that lower limb weakness may contribute to limitations in mobility in people with OI Type IV despite multidisciplinary treatment. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 26, 2017 Category: International Medicine & Public Health Source Type: news

Michigan girl Michaela Davert becomes star beauty blogger
Michaela Davert, 18, from Michigan, who is 2ft6ins tall, was born with Osteogenesis Imperfecta, or brittle bone syndrome, has broken more than 90 bones in her lifetime and undergone 25 surgeries. (Source: the Mail online | Health)
Source: the Mail online | Health - June 16, 2017 Category: Consumer Health News Source Type: news

Mereo commences Phase IIb trial of BPS-804 to treat OI
UK-based biopharmaceutical firm Mereo BioPharma has commenced the Phase IIb ASTEROID clinical trial of BPS-804 to treat patients with osteogenesis imperfecta (OI). (Source: Drug Development Technology)
Source: Drug Development Technology - May 4, 2017 Category: Pharmaceuticals Source Type: news

Static postural control in youth with osteogenesis imperfecta type I - Pouliot-Laforte A, Lemay M, Rauch F, Veilleux LN.
OBJECTIVE: To assess static postural control in eyes-open and eyes-closed conditions in individuals with osteogenesis imperfecta (OI) type I as compared to typically developing (TD) individuals. The second aim was to explore the relation between postural c... (Source: SafetyLit)
Source: SafetyLit - April 26, 2017 Category: Global & Universal Tags: Age: Adolescents Source Type: news

Osteogenesis Imperfecta sufferer has countless broken bone
Zoe Lush, 6, suffers from a rare condition that means her bones are so delicate they 'break in the wind'. The youngster from California, has broken nearly every bone in her body. (Source: the Mail online | Health)
Source: the Mail online | Health - April 5, 2017 Category: Consumer Health News Source Type: news

How Murder Victims With Disabilities Get Blamed For Their Own Deaths
Alex Spourdalakis was 14 when his mother and godmother decided to kill him. The women tried to poison the boy, who had autism, with sleeping pills. When that failed, Dorothy Spourdalakis stabbed her son four times in the chest with a kitchen knife, twice hitting his heart. She slit one of his wrists so deeply she nearly severed his hand, according to court records. Then she handed the knife to Jolanta Agata Skrodzka, who used it to kill the family cat so it wouldn’t have to live in a shelter after their arrests.  A year later, 11-year-old Raashanai Coley, another child in Illinois, died from a stomach ruptu...
Source: Healthy Living - The Huffington Post - March 14, 2017 Category: Consumer Health News Source Type: news

Protein in womb plays lifelong role in bone health, study of mice shows
Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily. Severe cases of the disease can result in hundreds of fractures during a person's lifetime or even death. Researchers have shown that limiting a specific maternal protein in pregnant mice with osteogenesis imperfecta resulted in offspring with stronger, denser bones. The finding might one day provide a new therapeutic approach to treating brittle bone disease. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - January 30, 2017 Category: Science Source Type: news

Study of mice shows protein in womb plays lifelong role in bone health
(University of Missouri-Columbia) Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily. Severe cases of the disease can result in hundreds of fractures during a person's lifetime or even death. Researchers at the University of Missouri School of Medicine have shown that limiting a specific maternal protein in pregnant mice with osteogenesis imperfecta resulted in offspring with stronger, denser bones. The finding might one day provide a new therapeutic approach to treating brittle bone disease. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 30, 2017 Category: Global & Universal Source Type: news

New Brittle bone trial seeks to reduce risk of fractures
People with a rare bone condition that can cause them to have hundreds of fractures during a lifetime are being invited to trial a potential treatment. Researchers have received £1.5 million from the NIHR to conduct the study, which will involve 390 people with a condition called Osteogenesis Imperfecta (OI). The six-year trial will test... (Source: NIHR Evaluation, Trials and Studies News)
Source: NIHR Evaluation, Trials and Studies News - January 19, 2017 Category: American Health Source Type: news

New clinical trial to test drug combination to treat osteogenesis imperfecta
The University of Edinburgh will conduct a six-year trial of teriparatide and zoledronic acid combination to treat a condition called osteogenesis imperfecta (OI). (Source: Drug Development Technology)
Source: Drug Development Technology - January 18, 2017 Category: Pharmaceuticals Source Type: news

Creative approach to probing genome identifies genes that likely influence bone strength
In an important step in the battle against osteoporosis, a serious brittle bone disease that affects millions, researchers have identified more than a dozen genes amid the vast human genome likely responsible for bone density and strength. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - December 14, 2016 Category: Science Source Type: news

Creative approach to probing genome IDs genes that likely influence bone strength
(University of Virginia Health System) In an important step in the battle against osteoporosis, a serious brittle bone disease that affects millions, researchers have identified more than a dozen genes amid the vast human genome likely responsible for bone density and strength. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - December 14, 2016 Category: Global & Universal Source Type: news

Meet the woman who could break a rib simply by SNEEZING
Julie Stonestreet, from Sydney, has a rare condition commonly known as brittle bone disease. The 42-year-old has broken more than 100 bones, but has still become a teacher. (Source: the Mail online | Health)
Source: the Mail online | Health - December 5, 2016 Category: Consumer Health News Source Type: news

Meet the woman who could break a rib simply by SNEEZING... and who, despite having broken more than 100 bones in her body, has gone on to become a successful teacher
Julie Stonestreet, from Sydney, has a rare condition commonly known as brittle bone disease. The 42-year-old has broken more than 100 bones, but has still become a teacher. (Source: the Mail online | Health)
Source: the Mail online | Health - December 5, 2016 Category: Consumer Health News Source Type: news

$3M Gift To Provide Outdoor Space at Arkansas Children's Northwest
The Walton Family Foundation has donated $3 million toward a 37-acre wellness campus, including an outdoor labyrinth and nature trail, at Arkansas Children's Northwest, the hospital announced Friday. The money will establish the Amelia Faulk Labyrinth and Nature Trail on the campus of the Springdale hospital, which is now under construction. Faulk, a friend of the Walton family, was born with Osteogenesis Imperfecta, a genetic disorder resulting in fragile bones that break easily and has received care at Arkansas Children's Hospital since birth. "Arkansas Children's Hospital has been with me every step of my journey,&...
Source: Arkansas Business - Health Care - September 24, 2016 Category: American Health Source Type: news

New type of rare brittle-bone disease discovered
Researchers have discovered the first X-chromosome-inherited type of the congenital disease osteogenesis imperfecta, also known as brittle-bone disease. The new discovery improves the genetic diagnosis of the disease and paves the way to possible improved treatment options for patients. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - July 6, 2016 Category: Science Source Type: news

[Research Article] Mice lacking the intracellular cation channel TRIC-B have compromised collagen production and impaired bone mineralization
Tric-b knockout mice serve as a model for studying the bone defects of osteogenesis imperfecta. (Source: Signal Transduction Knowledge Environment)
Source: Signal Transduction Knowledge Environment - May 18, 2016 Category: Science Authors: Chengzhu Zhao, Atsuhiko Ichimura, Nianchao Qian, Tsunaki Iida, Daiju Yamazaki, Naruto Noma, Masataka Asagiri, Koji Yamamoto, Shinji Komazaki, Chikara Sato, Fumiyo Aoyama, Akira Sawaguchi, Sho Kakizawa, Miyuki Nishi, Hiroshi Takeshima Source Type: news

COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse - Zarate YA, Clingenpeel R, Sellars EA, Tang X, Kaylor JA, Bosanko K, Linam LE, Byers PH.
Child abuse is a major public health concern that can explain a proportion of fractures in children. Osteogenesis imperfecta (OI) is the most common inherited syndrome that predisposes to skeletal fractures. We conducted a retrospective analysis of data fr... (Source: SafetyLit)
Source: SafetyLit - April 23, 2016 Category: Global & Universal Tags: Age: Infants and Children Source Type: news

Indian woman who's the size of a TODDLER after shrinking from 4ft to 2ft
Kunti Kumari, 25, who lives in a rural village in Chatra, in India's eastern state of Jharkhand, may be suffering from osteogenesis imperfecta, a genetic condition causing the bones to curve. (Source: the Mail online | Health)
Source: the Mail online | Health - April 4, 2016 Category: Consumer Health News Source Type: news

Your Dentist Is More Important to Your General Health Than You May Realize
Most people view their twice-yearly visits to the dentist as little more than a cleaning and a check-up. But in reality, those visits are much more important than you probably realize. That's because your dentist is looking inside your mouth for a lot more than cavities. Plenty of medical conditions -- including some alarming ones! -- manifest in the mouth, which is the part of your body your dentist knows the most about. In fact, it's possible that your dentist is able to alert you of a potentially serious condition long before you even think about going to a primary care doctor. Here's a list of some of the medical cond...
Source: Healthy Living - The Huffington Post - March 29, 2016 Category: Consumer Health News Source Type: news

Clinical perspectives on osteogenesis imperfecta versus non-accidental injury - Pereira EM.
Although non-accidental injuries (NAI) are more common in cases of unexplained fractures than rare disorders such as osteogenesis imperfecta (OI), ruling out OI and other medical causes of fracture is always indicated. The majority of OI patients can be di... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - October 30, 2015 Category: Global & Universal Tags: Age: Infants and Children Source Type: news

C-section delivery does not decrease at-birth fracture rates in infants with rare bone disease
Cesarean delivery was not associated with decrease in the at-birth fracture rates in infants with osteogenesis imperfecta, a rare bone disorder, reports a consortium of researchers. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - October 22, 2015 Category: Science Source Type: news

Genetic drift: a case of abuse - Marion R.
In this essay, an infant with multiple fractures is removed from the custody of her parents because of suspected child abuse. Subsequently studies reveal that the child has osteogenesis imperfecta, type III. Though the child is eventually returned to the m... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - October 19, 2015 Category: Global & Universal Tags: Age: Adolescents Source Type: news

Tiny bride who is just 2ft 8in due to severe brittle bone disease says marrying her 6ft 1in groom was a 'dream come true'
Amanda Fyfe, 31, from Leicestershire, feared she would never get married or have a child because her growth was restricted by her condition. However, for 6ft 1in Steven, her height was never an issue. (Source: the Mail online | Health)
Source: the Mail online | Health - October 13, 2015 Category: Consumer Health News Source Type: news

First clinical trial to strengthen babies bones in the womb
Stem cell jabs in the womb could help babies with brittle bone disease and save children a lifetime of pain, researchers say ahead of first trials (Source: Telegraph Health)
Source: Telegraph Health - October 12, 2015 Category: Consumer Health News Tags: great ormond street karolinksa babies brittle bone stem cells university college london Source Type: news

Stem cell jabs for babies in womb could end curse of brittle bones
Doctors at Great Ormond Street Hospital will identify pregnancies where the unborn child has brittle bone disease, and the treatment will be given at University College London Hospital. (Source: the Mail online | Health)
Source: the Mail online | Health - October 12, 2015 Category: Consumer Health News Source Type: news

Vitamin D pills may not help you ward off brittle bone disease
Researchers say the benefits of Vitamin D and calcium pills may have been hugely overplayed by their manufactures and they may even cause kidney complications and strokes. (Source: the Mail online | Health)
Source: the Mail online | Health - July 21, 2015 Category: Consumer Health News Source Type: news

Marie Andrews with brittle bone disease has 'miracle' child thanks to surrogate
Marie Andrews is 17in tall while her 19-month-old son Mark is 32in. The 32-year-old, from Milton Keynes, Buckinghamshire, suffers from a condition called osteogenesis imperfecta. (Source: the Mail online | Health)
Source: the Mail online | Health - July 17, 2015 Category: Consumer Health News Source Type: news

Rib fractures in osteogenesis imperfecta: have we learnt anything about child abuse? - Shelmerdine SC, Arthurs OJ, Calder AD.
[Abstract unavailable] Language: en... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - May 29, 2015 Category: Global & Universal Tags: Age: Infants and Children Source Type: news

'China doll' bride Rebecca Dinsdale has broken EVERY bone in her body
Rebecca Dinsdale, 31, from Somerset, was born with brittle bone disease and doctors warned she would never sit up or walk unaided, and would be lucky to live beyond the age of two. (Source: the Mail online | Health)
Source: the Mail online | Health - April 29, 2015 Category: Consumer Health News Source Type: news

Brittle bone disease: Drug research offers hope
A drug being developed to treat osteoporosis may also be useful for treating osteogenesis imperfecta or brittle bone disease, a rare but potentially debilitating bone disorder that that is present from birth, scientists say. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - March 31, 2015 Category: Science Source Type: news

The art of healing: Spinal fusion patient Dylan Morang fights through pain for his art
The purpose of art is washing the dust of daily life off our souls. – Pablo Picasso Ever since he was a young boy growing up in Rockland, Maine, Dylan Morang has been artistically inclined. His mother remembers him often sitting at his little desk, happily consumed by his coloring. When he wasn’t drawing, he was gathering inspiration along the beautiful rocky shores and through the deep woods of Maine. Dylan is now 24, and his love of art has only grown. He studied art in college, taught himself Photoshop, and is currently exhibiting his artwork at Boston Children’s Hospital, where he underwent two surge...
Source: Thrive, Children's Hospital Boston - March 20, 2015 Category: Pediatrics Authors: Jenny Fernandez Tags: Orthopedics Our patients’ stories child life Osteogenesis Imperfecta scoliosis Source Type: news

How Do You Diagnose Hypermobility?
Discussion Hypermobility can be seen in several different clinical entities. These include generalized joint hypermobility, joint hypermobility syndrome, Marfan syndrome, Ehlers-Danlos syndrome and Osteogenesis Imperfecta. For adults, a Beighton score of at least 4 or 5 is used as a definition of hypermobility. For children a score of 5 or 6 is used as a definition. (see scoring system below). Generalized joint hypermobility is hypermobility with few or no symptoms. If they occur, knee symptoms are the most common. Joint hypermobility syndrome has hypermobility along with other symptoms such as pain, reduced muscle stren...
Source: PediatricEducation.org - February 23, 2015 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

World Mourns Outspoken Woman With Disability Who Declared, 'I'm Not Your Inspiration'
Stella Young wasn’t here to make you feel warm and fuzzy inside. She made that perfectly clear. And by flat-out rejecting "inspiration porn," the woman with a bone disease who died suddenly on Saturday effectively subverted the conversation surrounding disabilities. Born in Victoria, Australia, Young lived with osteogenesis imperfecta, a genetic disorder that caused her bones to break easily, and led her to use a wheelchair, according to the Australian Broadcasting Corporation. She was 32 when she died. While the comedian accepted her condition, she couldn’t welcome the inane way people talked abo...
Source: Healthy Living - The Huffington Post - December 8, 2014 Category: Consumer Health News Source Type: news

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