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https://www.readbyqxmd.com/read/28646443/recent-discoveries-in-monogenic-disorders-of-childhood-bone-fragility
#1
REVIEW
Riikka E Mäkitie, Anders J Kämpe, Fulya Taylan, Outi Mäkitie
PURPOSE OF REVIEW: This review summarizes our current knowledge on primary osteoporosis in children with focus on recent genetic findings. RECENT FINDINGS: Advances in genetic research, particularly next-generation sequencing, have found several genetic loci that associate with monogenic forms of inherited osteoporosis, widening the scope of primary osteoporosis beyond classical osteogenesis imperfecta. New forms of primary osteoporosis, such as those related to WNT1, PLS3, and XYLT2, have identified defects outside the extracellular matrix components and collagen-related pathways, in intracellular cascades directly affecting bone cell function...
June 23, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28628032/osteocyte-specific-wnt1-regulates-osteoblast-function-during-bone-homeostasis
#2
Kyu Sang Joeng, Yi-Chien Lee, Joohyun Lim, Yuqing Chen, Ming-Ming Jiang, Elda Munivez, Catherine Ambrose, Brendan H Lee
Mutations in WNT1 cause osteogenesis imperfecta (OI) and early-onset osteoporosis, identifying it as a key Wnt ligand in human bone homeostasis. However, how and where WNT1 acts in bone are unclear. To address this mechanism, we generated late-osteoblast-specific and osteocyte-specific WNT1 loss- and gain-of-function mouse models. Deletion of Wnt1 in osteocytes resulted in low bone mass with spontaneous fractures similar to that observed in OI patients. Conversely, Wnt1 overexpression from osteocytes stimulated bone formation by increasing osteoblast number and activity, which was due in part to activation of mTORC1 signaling...
June 19, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28626166/efficacy-of-denosumab-for-osteoporosis-in-three-female-patients-with-osteogenesis-imperfecta
#3
Masashi Uehara, Yukio Nakamura, Jun Takahashi, Mikio Kamimura, Shota Ikegami, Takako Suzuki, Shigeharu Uchiyama, Tomomi Yamaguchi, Tomoki Kosho, Hiroyuki Kato
Osteogenesis imperfecta (OI) is an inherited bone disorder that causes fractures due to impaired production of collagen type I. In recent years, denosumab, a human monoclonal antibody against receptor activator of nuclear factor κB ligand (RANKL), has become widely used as an anti-osteoclastic agent for osteoporosis. This study investigated osteoporotic cases of OI to examine effects of denosumab on bone fragility. This was a retrospective, consecutive case series that included 3 female patients aged 42, 40, and 14 years, respectively...
2017: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28625337/osteogenesis-imperfecta-a-clinical-update
#4
Symeon Tournis, Anastasia D Dede
Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and includes a heterogenous group of genetic disorders which most commonly result from defects associated with type 1 collagen. 85%-90% of cases are inherited in an autosomal dominant manner and are caused by mutations in the COL1A1 and COL1A2 genes, leading to quantitative or qualitative defects in type 1 collagen. In the last decade, defects in several other proteins involved in the normal processing of type 1 collagen have been described...
June 8, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28614531/alternative-option-for-osteogenesis-imperfecta-and-trigeminal-neuralgia
#5
Leonardo Gilmone Ruschel, Guilherme José Agnoletto, Sonival Cândido Hunhevicz, Daniel Benzecry de Almeida, Walter Oleschko Arruda
Osteogenesis imperfecta (OI) is a bone disorder that can lead to skull base deformities such as basilar invagination, which can cause compression of cranial nerves, including the trigeminal nerve. Trigeminal neuralgia in such cases remains a challenge, given distorted anatomy and deformities. We present an alternative option, consisting in cannulation of the foramen ovale and classical percutaneous treatment. Percutaneous balloon microcompression was performed in a 28 year-old woman with OI and severe trigeminal neuralgia using computed tomography (CT) and radiographic-guided cannulation of the Gasserian ganglion without neuronavigation or stereotactic devices...
April 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28605746/pls3-mutations-in-x-linked-osteoporosis-clinical-and-bone-characteristics-of-two-novel-mutations
#6
Peter Kannu, Areej Mahjoub, Riyana Babul-Hirji, Melissa T Carter, Jennifer Harrington
BACKGROUND AND OBJECTIVES: Plastin 3 (PLS3) mutations are associated with an X-linked osteoporosis. Here we describe two new families with novel mutations, including one with a whole gene PLS3 deletion, and review the literature on 9 previously reported cases. RESULTS: Hemizygous male carriers presented with multiple peripheral bone fractures, low bone mineral density (BMD), and vertebral compression fractures. Heterozygous female carriers did not have a history of fragility fractures, although 1 individual presented with low BMD...
June 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28600151/splenomegaly-myeloid-lineage-expansion-and-increased-osteoclastogenesis-in-osteogenesis-imperfecta-murine
#7
Brya G Matthews, Emilie Roeder, Xi Wang, Hector Leonardo Aguila, Sun-Kyeong Lee, Danka Grcevic, Ivo Kalajzic
Osteogenesis imperfecta (OI) is a disease caused by defects in type I collagen production that results in brittle bones. While the pathology is mainly caused by defects in the osteoblast lineage, there is also elevated bone resorption by osteoclasts resulting in high bone turnover in severe forms of the disease. Osteoclasts originate from hematopoietic myeloid cells, however changes in hematopoiesis have not been previously documented in OI. In this study, we evaluated hematopoietic lineage distribution and osteoclast progenitor cell frequency in bone marrow, spleen and peripheral blood of osteogenesis imperfecta murine (OIM) mice, a model of severe OI...
June 7, 2017: Bone
https://www.readbyqxmd.com/read/28585474/family-experience-with-osteogenesis-imperfecta-type-1-the-most-distressing-situations
#8
Margarida Custódio Dos Santos, Ana Filipa Pires, Kelly Soares, Luísa Barros
BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by decreased bone mass and increased bone fragility. Despite increasing research on the biomedical aspects of the disease, only a few studies focus on the psychosocial implications of living with OI. This study aimed to explore the situations that are perceived by OI type-1 children, their parents and siblings, as being the most distressing and stressful in their experience with the disease. METHODS: Seven families of children diagnosed with OI type 1 for longer than four years participated...
June 6, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28582512/minimally-invasive-mitral-valve-repair-in-osteogenesis-imperfecta
#9
Isabella Tagliasacchi, Luigi Martinelli, Leopoldo Bardaro, Sergio Chierchia
Osteogenesis imperfecta is a disorder of the connective tissue that affects several structures including heart valves. However, cardiac surgery is associated with high mortality and morbidity rates. In a 48-year-old man with osteogenesis imperfecta and mitral valve prolapse, we performed the first successful mitral valve repair by right anterior mini-thoracotomy. At the 1-year follow-up, he was asymptomatic and echocardiography confirmed the initial success.
June 5, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28574406/muscle-abnormalities-in-osteogenesis-imperfecta
#10
L N Veilleux, P Trejo, F Rauch
Osteogenesis imperfecta (OI) is mainly characterized by bone fragility but muscle abnormalities have been reported both in OI mouse models and in children with OI. Muscle mass is decreased in OI, even when short stature is taken into account. Dynamic muscle tests aiming at maximal eccentric force production reveal functional deficits that can not be explained by low muscle mass alone. However, it appears that diaphyseal bone mass is normally adapted to muscle force. At present the determinants of muscle mass and function in OI have not been clearly defined...
June 1, 2017: Journal of Musculoskeletal & Neuronal Interactions
https://www.readbyqxmd.com/read/28562392/atypical-osteogenesis-imperfecta-caused-by-a-17q21-33-deletion-involving-col1a1
#11
Rosalyn Jewell, Ajoy Sarkar, Rebecca Jones, Ashley Wilkinson, Kate Martin, Paul Arundel, Meena Balasubramanian
No abstract text is available yet for this article.
May 30, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28555931/soluble-activin-receptor-type-iib-decoy-receptor-differentially-impacts-murine-osteogenesis-imperfecta-muscle-function
#12
Youngjae Jeong, Salah A Daghlas, Alp S Kahveci, Daniel Salamango, Bettina A Gentry, Marybeth Brown, R Scott Rector, R Scott Pearsall, Charlotte L Phillips
INTRODUCTION: Osteogenesis imperfecta (OI) is characterized by skeletal fragility and muscle weakness. In this study we investigated the effects of soluble activin type IIB receptor (sActRIIB-mFc) on muscle mass and function in 2 distinct mouse models of OI: osteogenesis imperfecta murine (oim) and +/G610C. METHODS: Wild-type (WT), +/G610C, and oim/oim mice were treated from 2 to 4 months of age with Tris-buffered saline (vehicle) or sActRIIB-mFc and their hindlimb muscles evaluated for mass, morphology, and contractile function...
May 26, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28548288/hypermineralization-and-high-osteocyte-lacunar-density-in-osteogenesis-imperfecta-type-v-bone-indicate-exuberant-primary-bone-formation
#13
Stéphane Blouin, Nadja Fratzl-Zelman, Francis H Glorieux, Paul Roschger, Klaus Klaushofer, Joan C Marini, Frank Rauch
In contrast to "classical" forms of Osteogenesis imperfecta (OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a gain-of-function mutation in the IFITM5 gene, encoding the interferon-induced transmembrane protein 5, or bone-restricted ifitm-like protein (BRIL). Its phenotype distinctly differs from OI types I to IV by absence of blue sclerae and dentinogenesis imperfecta, by the occurrence of ossification disorders like hyperplastic callus and forearm interosseous membrane ossification...
May 26, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28537042/safety-and-efficacy-of-percutaneous-nephrolithotomy-in-patients-with-severe-skeletal-deformities
#14
Seyed Habibollah Mousavi-Bahar, Shahriar Amirhasani, Maede Mohseni, Rezgar Daneshdoost
PURPOSE: Treatment of renal calculi in patients with severe skeletal deformities can be challenging. We present our experience in order to provide an assessment of technical difficulties, associated complications, and outcomes of percutaneous nephrolithotomy (PCNL) as a treatment option in this special patient group. MATERIALS AND METHODS: Our study included eight patients treated with PCNL for renal stones. All had severe skeletal deformities including six with severe kyphoscoliosis, one with osteogenesis imperfecta, and another withrickets...
May 23, 2017: Urology Journal
https://www.readbyqxmd.com/read/28528406/responsiveness-to-pamidronate-treatment-is-not-related-to-the-genotype-of-type-i-collagen-in-patients-with-osteogenesis-imperfecta
#15
Junko Kanno, Akiko Saito-Hakoda, Shigeo Kure, Ikuma Fujiwara
Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, and blue sclerae. Most patients with OI have a mutation in either COL1A1 or COL1A2, which encode type I collagen. We screened these genes in Japanese patients with OI and compared their genotype and phenotype, focusing on the clinical response to treatment with pamidronate. Sequencing analysis of the genes in 19 families revealed 15 mutations, of which ten were missense mutations, thee were nonsense mutations, and two were frameshift mutations...
May 20, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28528193/novel-missense-loss-of-function-mutations-of-wnt1-in-an-autosomal-recessive-osteogenesis-imperfecta-patient
#16
Joon Yeon Won, Woo Young Jang, Hye-Ran Lee, Seon Young Park, Woo-Young Kim, Jong Hoon Park, Yonghwan Kim, Tae-Joon Cho
Osteogenesis imperfecta (OI) is a heritable skeletal disorder characterized by bone fragility and low bone mass. Recently, loss-of-function mutations of WNT1 have been reported to be causative in OI or osteoporosis. We report an OI patient with novel compound heterozygous WNT1 missense mutations, p.Glu123Asp and p.Cys153Gly. Both mutations are found in the exon 3, and the p.Glu123Asp is the most proximal N-terminus missense mutation among the reported WNT1 missense mutations in OI patients. In vitro functional analysis reveals that while expression of wildtype WNT1 stimulates canonical WNT1-mediated β-catenin signaling, that of individual WNT1 mutant fails to do so, indicative of the pathogenic nature of the WNT1 variants...
May 17, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28514292/isolated-olecranon-fractures-in-children-affected-by-osteogenesis-imperfecta-type-i-treated-with-single-screw-or-tension-band-wiring-system-outcomes-and-pitfalls-in-relation-to-bone-mineral-density
#17
Pietro Persiani, Filippo M Ranaldi, Jole Graci, Claudia De Cristo, Anna Zambrano, Patrizia D'Eufemia, Lorena Martini, Ciro Villani
The purpose of this study is to compare the results of 2 techniques, tension band wiring (TBW) and fixation with screws, in olecranon fractures in children affected with osteogenesis imperfecta (OI) type I. Between 2010 and 2014, 21 olecranon fractures in 18 children with OI (average age: 12 years old) were treated surgically. Ten patients were treated with the screw fixation and 11 with TBW. A total of 65% of olecranon fractures occurred as a result of a spontaneous avulsion of the olecranon during the contraction of the triceps muscle...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28498836/mutations-in-col1a1-and-col1a2-and-dental-aberrations-in-children-and-adolescents-with-osteogenesis-imperfecta-a-retrospective-cohort-study
#18
Kristofer Andersson, Göran Dahllöf, Katarina Lindahl, Andreas Kindmark, Giedre Grigelioniene, Eva Åström, Barbro Malmgren
Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation...
2017: PloS One
https://www.readbyqxmd.com/read/28492130/osteogenesis-imperfecta-type-3-in-south-africa-causative-mutations-in-fkbp10
#19
Alvera Vorster, Peter Beighton, Manogari Chetty, Yasmeen Ganie, Bertram Henderson, Engela Honey, Piet Maré, David Thompson, Karen Fieggen, Denis Viljoen, Rajkumar Ramesar
BACKGROUND: A relatively high frequency of autosomal recessively inherited osteogenesis imperfecta (OI) type 3 (OI-3) is present in the indigenous black southern African population. Affected persons may be severely handicapped as a result of frequent fractures, progressive deformity of the tubular bones and spinal malalignment. OBJECTIVE: To delineate the molecular basis for the condition. METHODS: Molecular investigations were performed on 91 affected persons from seven diverse ethnolinguistic groups in this population...
April 25, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28483687/femoral-and-lumbar-fractures-during-rehabilitation-for-a-traumatic-spinal-cord-injury-in-osteogenesis-imperfecta-a-case-presentation
#20
Brendon S Ross, David Ripley, Anna M Ho, Leslie Rydberg
Osteogenesis imperfecta (OI) is one of the most common inherited bone disorders. These individuals are high-risk for developing fractures during their lifetime secondary to bone fragility. This case presents a female with type I OI involved in a high speed motor vehicle accident resulting in a traumatic spinal cord injury (SCI) and paraplegia. Inpatient rehabilitation was complicated by fractures of the femur and lumbar spine which impacted her level of independence upon discharge to prevent additional fractures and maintain safety...
May 5, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
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