keyword
MENU ▼
Read by QxMD icon Read
search

imperfecta osteogenesis

keyword
https://www.readbyqxmd.com/read/27898502/-full-metal-jacket-treatment-of-multiple-paravalvular-leaks
#1
Giuseppe Santoro, Giancarlo Scognamiglio, Maria T Palladino, Carola Iacono, Giampiero Gaio, Maria G Russo
A 40-year-old man with osteogenesis imperfecta type I submitted to multiple procedures of surgical mitral and aortic valve replacement was referred for refractory congestive heart failure due to significant paravalvular leaks (PVLs) of both mitral and aortic prostheses. Due to perceived very high risk of a further mitroaortic surgery, transcatheter closure of PVLs under three-dimensional echocardiographic guide was performed. Thus, four Amplatzer Vascular Plug type II (St. Jude Medical Corp, St. Paul, Minnesota, USA) devices were implanted into the aortic PVLs, and three Amplatzer Vascular Plug type II devices were used to occlude a huge mitral PVL...
November 24, 2016: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/27894323/health-related-quality-of-life-and-a-cost-utility-simulation-of-adults-in-the-uk-with-osteogenesis-imperfecta-x-linked-hypophosphatemia-and-fibrous-dysplasia
#2
Lydia Forestier-Zhang, Laura Watts, Alison Turner, Harriet Teare, Jane Kaye, Joe Barrett, Cyrus Cooper, Richard Eastell, Paul Wordsworth, Muhammad K Javaid, Rafael Pinedo-Villanueva
BACKGROUND: Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate the maximum cost that a health care system would be willing to pay for a hypothetical treatment of a rare bone disease. RESULTS: Participants completed the EQ-5D-5 L questionnaire between September 2014 and March 2016...
November 28, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27885708/oldest-medical-description-of-osteogenesis-imperfecta-17th-century-france
#3
Philippe Charlier, Antonio Perciaccante, Raffaella Bianucci
Osteogenesis imperfecta (OI), also known as Lobstein's syndrome or Vrolik's syndrome, comprises a heterogeneous group of rare genetic connective tissue disorders. It is characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures of variable severity. Originally named "osteomalacia congenita," the condition was first medically described in a family by Ekman in 1778. Here, we report a 17th century medical account from France, which predates Eckman's doctoral dissertation by about a century...
November 7, 2016: Clinical Anatomy
https://www.readbyqxmd.com/read/27864101/targeted-exome-sequencing-identifies-novel-compound-heterozygous-mutations-in-p3h1-in-a-fetus-with-osteogenesis-imperfecta-type-viii
#4
Yanru Huang, Libin Mei, Weigang Lv, Haoxian Li, Rui Zhang, Qian Pan, Hu Tan, Jing Guo, Xiaomei Luo, Chen Chen, Desheng Liang, Lingqian Wu
Osteogenesis imperfecta (OI) is a highly clinically and genetically heterogeneous group of disorders. It is difficult to identify severe OI in the perinatal period. Here, a Chinese woman with a suspected history of fetal OI was referred to our institution at 19weeks of gestation, due to ultrasound inspection during antenatal screening, which revealed bulbous metaphyses, short humeri, and short thick bent femora in the fetus. Using targeted exome sequencing of 248 genes known to be involved in skeletal system diseases, we identified novel compound heterozygous mutation in the P3H1 gene in the fetus with OI type VIII: c...
November 15, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27847137/essential-roles-of-bone-morphogenetic-protein-1-and-mammalian-tolloid-like-1-in-postnatal-root-dentin-formation
#5
Jun Wang, Alison M Muir, Yinshi Ren, Dawiyat Massoudi, Daniel S Greenspan, Jian Q Feng
INTRODUCTION: Mutations in the proteinase bone morphogenetic protein-1 (BMP1) were recently identified in patients with osteogenesis imperfecta, which can be associated with type 1 dentinogenesis imperfecta. BMP1 is co-expressed in various tissues and has overlapping activities with the closely related proteinase mammalian tolloid-like 1 (TLL1). In this study we investigated whether removing the overlapping activities of BMP1 and TLL1 affects the mineralization of tooth root dentin. METHODS: Floxed alleles of the BMP1 and TLL1 genes were excised via ubiquitously expressed Cre induced by tamoxifen treatment beginning at 3 days of age (harvested at 3 weeks of age) or beginning at 4 weeks of age (harvested at 8 weeks of age)...
November 12, 2016: Journal of Endodontics
https://www.readbyqxmd.com/read/27833926/bilateral-papilledema-in-a-child-with-osteogenesis-imperfecta
#6
Selam Yekta Sendul, Cemile Ucgul Atilgan, Semra Tiryaki, Dilek Guven
BACKGROUND: To present a female child patient with osteogenesis imperfecta who had bilateral papilledema. CASE PRESENTATION: A twelve-year-old girl with osteogenesis imperfecta was referred to our clinic. Bilateral best corrected visual acuity of the patient was 5/10 (corrected with +3.50 for right eye, +5.00 for left eye) with a standard Snellen scale at a distance of a 6 m. Anterior chamber, iris and lens examination of both of her eyes were unremarkable. In her fundus examination, bilateral stage 2 papilledema and the wrinkles in papillomacular area were noticed...
2016: Eye and Vision (London, England)
https://www.readbyqxmd.com/read/27832015/intramedullary-nailing-with-supplemental-plate-and-screw-fixation-of-long-bones-of-patients-with-osteogenesis-imperfecta-operative-technique-and-preliminary-results
#7
Jeanne M Franzone, Richard W Kruse
Although intramedullary fixation is the standard form of surgical fixation of the long bones of children with osteogenesis imperfecta (OI), it remains fraught with complications. Implant breakage, implant cut out, long bone fracture, nonunion, and rod bending have all been described as complications of intramedullary long bone fixation in children with OI. Supplemental fixation techniques represent an attempt to decrease these risks of surgical implant failure of intramedullary devices. A supplemental plate and screw construct at a fracture or an osteotomy site in addition to an intramedullary device in the long bone segment is one such form of supplemental fixation...
November 9, 2016: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/27830345/subperiosteal-new-bone-and-callus-formations-in-neonates-with-femoral-shaft-fracture-at-birth
#8
Takahiro Hosokawa, Yoshitake Yamada, Yumiko Sato, Yutaka Tanami, Eiji Oguma
To compare the timing of subperiosteal new bone formation (SPNBF) and callus formation in femoral shaft fractures that occurred at birth between neonates with and without an underlying disease, we retrospectively evaluated the radiographs of 12 neonates with femoral fractures on birth day. Seven had no underlying disease, 3 had osteogenesis imperfecta, 1 had myotonic dystrophy, and 1 had arthrogryposis. We evaluated the timing of initial SPNBF/soft callus/hard callus formation. In neonates without an underlying disease, SPNBF and callus formation were not detected by day 6 on radiographs; SPNBF/soft callus/hard callus formation was first observed at day 14...
November 9, 2016: Emergency Radiology
https://www.readbyqxmd.com/read/27821779/decreasing-maternal-myostatin-programs-adult-offspring-bone-strength-in-a-mouse-model-of-osteogenesis-imperfecta
#9
Arin K Oestreich, William M Kamp, Marcus G McCray, Stephanie M Carleton, Natalia Karasseva, Kristin L Lenz, Youngjae Jeong, Salah A Daghlas, Xiaomei Yao, Yong Wang, Ferris M Pfeiffer, Mark R Ellersieck, Laura C Schulz, Charlotte L Phillips
During fetal development, the uterine environment can have effects on offspring bone architecture and integrity that persist into adulthood; however, the biochemical and molecular mechanisms remain unknown. Myostatin is a negative regulator of muscle mass. Parental myostatin deficiency (Mstn(tm1Sjl/+)) increases muscle mass in wild-type offspring, suggesting an intrauterine programming effect. Here, we hypothesized that Mstn(tm1Sjl/+) dams would also confer increased bone strength. In wild-type offspring, maternal myostatin deficiency altered fetal growth and calvarial collagen content of newborn mice and conferred a lasting impact on bone geometry and biomechanical integrity of offspring at 4 mo of age, the age of peak bone mass...
November 22, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27813341/pharmacological-and-biological-therapeutic-strategies-for-osteogenesis-imperfecta
#10
Ronit Marom, Yi-Chien Lee, Ingo Grafe, Brendan Lee
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility, low bone mass, and bone deformities. The majority of cases are caused by autosomal dominant pathogenic variants in the COL1A1 and COL1A2 genes that encode type I collagen, the major component of the bone matrix. The remaining cases are caused by autosomal recessively or dominantly inherited mutations in genes that are involved in the post-translational modification of type I collagen, act as type I collagen chaperones, or are members of the signaling pathways that regulate bone homeostasis...
November 3, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27807717/the-clinical-features-of-osteogenesis-imperfecta-in-vietnam
#11
Ho Duy Binh, Katre Maasalu, Vu Chi Dung, Can T Bich Ngoc, Ton That Hung, Tran V Nam, Le N Thanh Nhan, Ele Prans, Ene Reimann, Lidiia Zhytnik, Sulev Kõks, Aare Märtson
PURPOSE: Osteogenesis imperfecta (OI) has not been studied in a Vietnamese population before. The aim of this study was to systematically collect epidemiological information, investigate clinical features and create a clinical database of OI patients in Vietnam for future research and treatment strategy development. METHOD: Participants underwent clinical and physical examinations; also medical records were reviewed. Genealogical information was collected and family members' phenotypical manifestations recorded...
November 2, 2016: International Orthopaedics
https://www.readbyqxmd.com/read/27803445/tric-b-mutations-causing-osteogenesis-imperfecta
#12
Atsuhiko Ichimura, Hiroshi Takeshima
Trimeric intracellular cation (TRIC) channel subtypes, namely TRIC-A and TRIC-B, are expressed in the endoplasmic/sarcoplasmic reticulum and nuclear envelope, and likely function as monovalent cation channels in various cell types. Our studies using knockout mice so far suggest that TRIC subtypes support Ca(2+) release from intracellular stores by mediating counter-cationic fluxes. Several genetic mutations within the TRIC-B locus were recently identified in autosomal recessive osteogenesis imperfecta (OI) patients...
2016: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/27799304/consequences-of-glycine-mutations-in-the-fibronectin-binding-sequence-of-collagen
#13
Panharith Chhum, Hongtao Yu, Bo An, Brian R Doyon, Yu-Shan Lin, Barbara Brodsky
Collagen and fibronectin (Fn) are two key extracellular matrix proteins, which are known to interact and jointly shape matrix structure and function. Most proteins that interact with collagen bind only to the native triple-helical form, while Fn is unusual in binding strongly to denatured collagen and more weakly to native collagen. The consequences of replacing a Gly by Ser at each position in the required (Gly-Xaa-Yaa)6 Fn binding sequence are probed here, using model peptides and a recombinant bacterial collagen system...
October 31, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27798732/erratum-to-serum-creatine-kinase-isoenzymes-in-children-with-osteogenesis-imperfecta
#14
P D'Eufemia, R Finocchiaro, A Zambrano, V Lodato, L Celli, S Finocchiaro, P Persiani, A Turchetti, M Celli
No abstract text is available yet for this article.
October 31, 2016: Osteoporosis International
https://www.readbyqxmd.com/read/27796462/novel-mutations-in-serpinf1-result-in-rare-osteogenesis-imperfecta-type-vi
#15
Jian-Yi Wang, Yi Liu, Li-Jie Song, Fang Lv, Xiao-Jie Xu, A San, Jian Wang, Huan-Ming Yang, Zi-Ying Yang, Yan Jiang, Ou Wang, Wei-Bo Xia, Xiao-Ping Xing, Mei Li
Osteogenesis imperfecta (OI) is a group of inherited disorders characterized by recurrent fragile fractures. Serpin peptidase inhibitor, clade F, member 1 (SERPINF1) is known to cause a distinct, extremely rare autosomal recessive form of type VI OI. Here we report, for the first time, the detection of SERPINF1 mutations in Chinese OI patients. We designed a novel targeted next-generation sequencing panel of OI-related genes to identify pathogenic mutations, which were confirmed with Sanger sequencing and by co-segregation analysis...
October 28, 2016: Calcified Tissue International
https://www.readbyqxmd.com/read/27789416/compound-heterozygous-variants-in-nbas-as-a-cause-of-atypical-osteogenesis-imperfecta
#16
M Balasubramanian, J Hurst, S Brown, N J Bishop, P Arundel, C DeVile, R C Pollitt, L Crooks, D Longman, J F Caceres, F Shackley, S Connolly, J H Payne, A C Offiah, D Hughes, M J Parker, W Hide, T M Skerry
BACKGROUND: Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1 in 15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcome and patient benefit. REPORT: Whole exome sequencing in patients with OI identified, in two patients with a multi-system phenotype, compound heterozygous variants in NBAS (neuroblastoma amplified sequence)...
January 2017: Bone
https://www.readbyqxmd.com/read/27780792/application-of-anti-sclerostin-therapy-in-non-osteoporosis-disease-models
#17
Christina M Jacobsen
Sclerostin, a known inhibitor of the low density lipoprotein related protein 5 and 6 (LRP5 and LRP6) cell surface signaling receptors, is integral in the maintenance of normal bone mass and strength. Patients with loss of function mutations in SOST or missense mutations in LRP5 that prevent Sclerostin from binding and inhibiting the receptor, have significantly increased bone mass. This observation leads to the development of Sclerostin neutralizing therapies to increase bone mass and strength. Anti-Sclerostin therapy has been shown to be effective at increasing bone density and strength in animal models and patients with osteoporosis...
October 22, 2016: Bone
https://www.readbyqxmd.com/read/27778394/use-of-new-targeted-cancer-therapies-in-children-effects-on-dental-development-and-risk-of-jaw-osteonecrosis-a-review
#18
Magali Hernandez, Bérengère Phulpin, Ludovic Mansuy, Dominique Droz
New targeted cancer therapies such as bisphosphonates, denosumab and bevacizumab are routinely used in adult for the past decades. Their introduction into pediatric medicine is more recent that means there is a paucity of data on long-term effects on dental development and on the risk of osteonecrosis of jaw. This paper aims to outline adverse effects of new targeted cancer therapies on oral cavity including dental abnormalities observed in pediatric population treated with these molecules and the risk of osteonecrosis of the jaw (ONJ)...
October 25, 2016: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/27769637/the-exciting-prospects-of-new-therapies-with-mesenchymal-stromal-cells
#19
Darwin J Prockop
From the outset, it was apparent that developing new therapies with mesenchymal stem/stromal cells (MSCs) was not a simple or easy task. Among the earliest experiments was administration of MSCs from normal mice to transgenic mice that developed brittle bones because they expressed a mutated gene for type 1 collagen isolated from a patient with osteogenesis imperfecta. The results prompted a clinical trial of MSCs in patients with severe osteogenesis imperfecta. Subsequent work by large numbers of scientists and clinicians has established that, with minor exceptions, MSCs do not engraft or differentiate to a large extent in vivo...
October 18, 2016: Cytotherapy
https://www.readbyqxmd.com/read/27762305/novel-mutations-in-fkbp10-in-chinese-patients-with-osteogenesis-imperfecta-and-their-treatment-with-zoledronic-acid
#20
Xiao-Jie Xu, Fang Lv, Yi Liu, Jian-Yi Wang, Dou-Dou Ma, Asan, Jia-Wei Wang, Li-Jie Song, Yan Jiang, Ou Wang, Wei-Bo Xia, Xiao-Ping Xing, Mei Li
Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by decreased bone mass and increased fracture risk. The majority of OI cases have an autosomal dominant pattern of inheritance and are usually caused by mutations in genes encoding type I collagen. OI cases of autosomal recessive inheritance are rare, and OI type XI is attributable to mutation of the FKBP10 gene. Here, we used next-generation sequencing and Sanger sequencing to detect mutations in FKBP10 and to analyze their relation to the phenotypes of OI type XI in three Chinese patients...
August 25, 2016: Journal of Human Genetics
keyword
keyword
95793
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"