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imperfecta osteogenesis

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https://www.readbyqxmd.com/read/29456761/effects-of-a-telescopic-intramedullary-rod-for-treating-patients-with-osteogenesis-imperfecta-of-the-femur
#1
D L Rosemberg, E O Goiano, M Akkari, C Santili
Purpose: To introduce a new model of telescopic intramedullary rod (TIR), evaluate its effects on treating patients presenting with moderate and severe osteogenesis imperfecta (OI) and to compare the findings with those of other telescopic rods. Methods: A total of 21 patients (nine girls and 12 boys; mean age at first operation, 6.6 years, 1.52 to 13.18) who underwent 52 femoral operations were monitored during a mean of 9.96 years (3.39 to 14.54). Patient characteristics, telescoping rod capability and its complications were examined...
February 1, 2018: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/29454826/diagnosis-follow-up-and-management-of-sleep-disordered-breathing-in-children-with-osteogenesis-imperfecta
#2
Antoine Léotard, Jessica Taytard, Marion Aouate, Michèle Boule, Veronique Forin, Pauline Lallemant-Dudek
OBJECTIVES: Osteogenesis imperfecta (OI) is the most common genetic skeletal disorder. Extraskeletal findings are common but an association with sleep disordered breathing (SDB) has never been described. The aim of this study was to investigate clinical features of children with OI and suspected SDB. METHODS: A retrospective study of clinical records, signs of SDB and polysomnographic recordings of children with OI was performed. We paid particular attention to symptoms that could be associated with SDB in this population - scoliosis, kyphosis, vertebral arthrodesis, chest wall deformities, basilar impression, autonomy - as well as data already known to be associated with obstructive sleep apnea such as body mass index and upper airway impairment...
February 15, 2018: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29432813/4-pba-ameliorates-cellular-homeostasis-in-fibroblasts-from-osteogenesis-imperfecta-patients-by-enhancing-autophagy-and-stimulating-protein-secretion
#3
Besio Roberta, Iula Giusy, Garibaldi Nadia, Cipolla Lina, Sabbioneda Simone, Biggiogera Marco, C Marini Joan, Rossi Antonio, Forlino Antonella
The clinical phenotype in osteogenesis imperfecta (OI) is attributed to the dominant negative function of mutant type I collagen molecules in the extracellular matrix, by altering its structure and function. Intracellular retention of mutant collagen has also been reported, but its effect on cellular homeostasis is less characterized. Using OI patient fibroblasts carrying mutations in the α1(I) and α2(I) chains we demonstrate that retained collagen molecules are responsible for endoplasmic reticulum (ER) enlargement and activation of the unfolded protein response (UPR) mainly through the eukaryotic translation initiation factor 2 alpha kinase 3 (PERK) branch...
February 9, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29430789/intratumoral-delivery-of-interferon-%C3%AE-secreting-mscs-repolarizes-tumor-associated-macrophages-and-suppresses-neuroblastoma-proliferation-in-vivo
#4
Theresa Relation, Tai Yi, Adam J Guess, Krista La Perle, Satoru Otsuru, Suheyla Hasgur, Massimo Dominici, Christopher Breuer, Edwin M Horwitz
Neuroblastoma, the most common extracranial solid tumor in childhood, remains a therapeutic challenge. However, one promising patient treatment strategy is the delivery of anti-tumor therapeutic agents via mesenchymal stromal cell (MSC) therapy. MSCs have been safely utilized to treat genetic bone diseases such as osteogenesis imperfecta, cardiovascular diseases, autoimmune diseases, and cancer. The pro-inflammatory cytokine interferon-gamma (IFNγ) has been shown to decrease tumor proliferation by altering the tumor microenvironment (TME)...
February 12, 2018: Stem Cells
https://www.readbyqxmd.com/read/29410766/implant-supported-fixed-prostheses-in-a-patient-with-osteogenesis-imperfecta-a-4-year-follow-up
#5
Mario Caicedo-Rubio, Elvira Ferrés-Amat, Eduard Ferrés-Padró
Osteogenesis Imperfecta (OI) is a rare autosomal dominant connective tissue disorder in wich, the bone quality and density is affected. OI includes some metabolic disorders and have a wide range of clinical presentations. In Osteogenesis Imperfecta bone has a very low density and it is a disorder currently treated with bisphosphonates. Quality and quantity of bone is important for establishment of osseointegration in dental implants. There are few reported cases in the literature. This is a case report of a 61 year-old man with grade IV OI, rehabilitated with implant-supported fixed prostheses in the posterior right and left mandible, whithout bone grafts...
December 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/29405385/specificity-protein-7-is-required-for-proliferation-and-differentiation-of-ameloblasts-and-odontoblasts
#6
Ji-Myung Bae, John C Clarke, Harunur Rashid, Mitra D Adhami, Kayla McCullough, Jordan S Scott, Haiyan Chen, Krishna M Sinha, Benoit de Crombrugghe, Amjad Javed
The Sp7/Osterix transcription factor is essential for bone development. Mutations of Sp7 gene in humans are associated with craniofacial anomalies and osteogenesis imperfecta. However, the role of Sp7 in embryonic tooth development remains unknown. Here we identified the functional requirement of Sp7 for dentin synthesis and tooth development. Sp7-null mice exhibit craniofacial dysmorphogenesis and are completely void of alveolar bone. Surprisingly, initial tooth morphogenesis progressed normally in Sp7-null mice...
February 5, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29401582/skeletal-cell-yap-and-taz-combinatorially-promote-bone-development
#7
Christopher D Kegelman, Devon E Mason, James H Dawahare, Daniel J Horan, Genevieve D Vigil, Scott S Howard, Alexander G Robling, Teresita M Bellido, Joel D Boerckel
The functions of the paralogous transcriptional coactivators Yes-associated protein (YAP) and transcriptional coactivator with PDZ-binding motif (TAZ) in bone are controversial. Each has been observed to promote or inhibit osteogenesis in vitro, with reports of both equivalent and divergent functions. Their combinatorial roles in bone physiology are unknown. We report that combinatorial YAP/TAZ deletion from skeletal lineage cells, using Osterix-Cre, caused an osteogenesis imperfecta-like phenotype with severity dependent on allele dose and greater phenotypic expressivity with homozygous TAZ vs...
January 10, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29388328/genotype-and-malocclusion-in-patients-with-osteogenesis-imperfecta
#8
Z Jabbour, A Al-Khateeb, H Eimar, J M Retrouvey, F H Glorieux, F Rauch, F Tamimi
OBJECTS: To investigate the relationship between genotype and severity of malocclusion in osteogenesis imperfecta (OI). SETTING AND SAMPLE POPULATION: A total of 49 patients participated in this cross-sectional study (age range: 5-19 years; 28 females; diagnoses: OI type I, N = 7; OI type III, N = 11; OI type IV, N = 27; OI type V, N = 2; OI type VI, N = 2). MATERIALS AND METHODS: Sequence analysis of COL1A1/COL1A2 and other OI-related genes was compared to the Peer Assessment Rating (PAR), an index reflecting the severity of malocclusion...
February 1, 2018: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/29382611/novel-variant-in-sp7-osx-associated-with-recessive-osteogenesis-imperfecta-with-bone-fragility-and-hearing-impairment
#9
Melissa Fiscaletti, Andrew Biggin, Bruce Bennetts, Karen Wong, Julie Briody, Verity Pacey, Catherine Birman, Craig F Munns
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by low bone density and recurrent fractures with a wide genotypic and phenotypic spectrum. Common features include short stature, opalescent teeth, blue sclerae and hearing impairment. The majority (>90%) of patients with OI have autosomal dominant variants in COL1A1/COL1A2, which lead to defects in type 1 collagen. More recently, numerous recessive variants involving other genes have also been identified. Sp7/Osx gene, is a protein coding gene that encodes a zinc finger transcription factor, osterix, which is a member of the Sp subfamily of sequence-specific DNA-binding proteins...
January 27, 2018: Bone
https://www.readbyqxmd.com/read/29381920/corrective-osteotomy-with-retrograde-fassier-duval-nail-in-an-osteogenesis-imperfecta-patient-with-bilateral-genu-valgum-a-case-report
#10
Tsung-Yu Lin, Chen-Yu Yang, Shih-Chia Liu
RATIONALE: The treatment of osteogenesis imperfecta (OI) requires a multidisciplinary approach to maximize function and reduce fracture incidence. The aim of this case report was to discuss an alternative surgical approach to stabilize a corrective osteotomy using the Fassier Duval (FD) system in an OI patient. PATIENT CONCERNS: A 20-year-old OI woman presented with left thigh pain, gait disturbance, and bilateral genu valgus deformities. DIAGNOSES: Physical examination and standing radiographs revealed bilateral genu valgum with previous fixation implants in the femoral and the left tibia...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29372401/exosomes-in-extracellular-matrix-bone-biology
#11
REVIEW
Adrienn Pethő, Yinghua Chen, Anne George
PURPOSE OF REVIEW: Exosomes are membrane vesicles that are released by most cell types into the extracellular environment. The purpose of this article is to discuss the main morphological features and contents of bone-derived exosomes, as well as their major isolation and physical characterization techniques. Furthermore, we present various scenarios and discuss potential clinical applications of bone-derived exosomes in bone repair and regeneration. RECENT FINDINGS: Exosomes were believed to be nanosized vesicles derived from the multivesicular body...
January 25, 2018: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/29358272/fam46a-mutations-are-responsible-for-autosomal-recessive-osteogenesis-imperfecta
#12
Mathilde Doyard, Séverine Bacrot, Céline Huber, Maja Di Rocco, Alice Goldenberg, Mona S Aglan, Perrine Brunelle, Samia Temtamy, Caroline Michot, Ghada A Otaify, Coralie Haudry, Mireille Castanet, Julien Leroux, Jean-Paul Bonnefont, Arnold Munnich, Geneviève Baujat, Pablo Lapunzina, Sophie Monnot, Victor L Ruiz-Perez, Valérie Cormier-Daire
BACKGROUND: Stüve-Wiedemann syndrome (SWS) is characterised by bowing of the lower limbs, respiratory distress and hyperthermia that are often responsible for early death. Survivors develop progressive scoliosis and spontaneous fractures. We previously identified LIFR mutations in most SWS cases, but absence of LIFR pathogenic changes in five patients led us to perform exome sequencing and to identify homozygosity for a FAM46A mutation in one case [p.Ser205Tyrfs*13]. The follow-up of this case supported a final diagnosis of osteogenesis imperfecta (OI), based on vertebral collapses and blue sclerae...
January 22, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29356793/fracture-patterns-differ-between-osteogenesis-imperfecta-and-routine-pediatric-fractures
#13
Kranti V Peddada, Brian T Sullivan, Adam Margalit, Paul D Sponseller
BACKGROUND: It is important to estimate the likelihood that a pediatric fracture is caused by osteogenesis imperfecta (OI), especially the least severe type of OI (type 1). METHODS: We reviewed records of 29,101 pediatric patients with fractures from 2003 through 2015. We included patients with closed fractures not resulting from motor vehicle accidents, gunshot wounds, nonaccidental trauma, or bone lesions. Patients with OI of any type were identified through International Classification of Diseases-9 code...
January 19, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29354746/the-genetic-implication-of-scoliosis-in-osteogenesis-imperfecta-a-review
#14
REVIEW
Gang Liu, Jia Chen, Yangzhong Zhou, Yuzhi Zuo, Sen Liu, Weisheng Chen, Zhihong Wu, Nan Wu
Osteogenesis imperfecta (OI) is a kind of heritable connective tissue disorder, including blue sclerae, hearing loss, skeletal dysplasia causing bone fragility and deformities. It is typically caused by collagen related gene mutations, which could lead to bone formation abnormalities. Scoliosis is one of the most common and severe spinal phenotype which has been reported in approximately 26-74.5% of all OI patients. Recent breakthroughs have suggested that OI can be divided into more than 16 types based on genetic mutations with different degrees of scoliosis...
December 2017: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/29354164/actual-reason-for-bone-fractures-in-the-case-of-a-patient-followed-up-with-the-osteogenesis-imperfecta-gaucher-s-disease
#15
Ufuk Demirci, Ahmet Çizmecioglu, Ismet Aydogdu
Gaucher's disease (GD) is a rare disease characterized by a β-glucocerebroside accumulation in the reticulo-endothelial system. Patients may refer to the clinic with complaints of bone pain, hepatosplenomegaly, anemia, thrombocytopenia, growth retardation, interstitial pulmonary disease, pulmonary hypertension, and skeletal disorders. Skeletal system involvement is observed commonly in Gaucher patients and a significant cause of morbidity. Our patient was followed for several years as a glass child - osteogenesis imperfecta and he had joint deformities due to skeletal fractures...
September 2017: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/29344653/a-novel-variant-of-osteogenesis-imperfecta-type-iv-and-low-serum-phosphorus-level-caused-by-a-val94asp-mutation-in-col1a1
#16
Qi Yang, Hong Xu, Jinsi Luo, Qinle Zhang, Bobo Xie, Sheng Yi, Xiuliang Rong, Jin Wang, Zailong Qin, Tingting Jiang, Li Lin, Yangjin Zuo, Xin Fan
Osteogenesis imperfecta (OI) is a rare congenital disorder characterized by bone fragility and fractures, and associated with bone deformity, short stature, dentin, ligament and blue‑gray eye sclera. OI is caused by a heterozygous mutation in collagen α‑1(I) chain (COL1A1) or collagen α‑2(I) chain (COL1A2) genes that encode α chains of type I collagen. Collagen α chain peptide contains an N‑propeptide, which has a role in assembly and processing of collagen. Point mutations in the N‑propeptide domain appear to trigger OI...
January 16, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29344330/developments-in-rare-bone-diseases-and-mineral-disorders
#17
REVIEW
Siobhan Bacon, Rachel Crowley
In the last decade, there have been a number of significant advances made in the field of rare bone diseases. In this review, we discuss the expansion of the classification system for osteogenesis imperfecta (OI) and the resultant increase in therapeutic options available for management of OI. Bisphosphonates remain the most widely used intervention for OI, although the effect on fracture rate reduction is equivocal. We review the other therapies showing promising results, including denosumab, teriparatide, sclerostin, transforming growth factor β inhibition and gene targeted approaches...
January 2018: Therapeutic Advances in Chronic Disease
https://www.readbyqxmd.com/read/29329516/bilateral-giant-retinal-tears-in-osteogenesis-imperfecta
#18
Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt, Catherine DeVile
BACKGROUND: Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes lead to the defective formation or quantity of type I collagen, the principle matrix in these tissues. Molecular genetic studies have now elucidated multiple genetic subtypes of the disorder but little literature exists on the risk of retinal tears and detachments in OI...
January 12, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29317961/successful-treatment-of-rapidly-progressive-life-threatening-esophageal-submucosal-hematoma-in-a-patient-with-van-der-hoeve-syndrome
#19
Yasuhiro Watanabe, Naomi Shimizu, Masahiro Iwakawa, Takashi Yamaguchi, Noriko Ban, Hidetoshi Kawana, Atsuhito Saiki, Emiko Sakaida, Chiaki Nakaseko, Yasuhiro Matsuura, Nobuyuki Aotsuka, Hideaki Bujo, Ichiro Tatsuno
Osteogenesis imperfecta (OI) is a rare inherited disorder of the connective tissue with many reports on its association with bleeding diatheses. OI patients with blue sclera, hearing loss, and bone vulnerability are classified as having van der Hoeve syndrome. Here, we report the first case of rapidly progressing, massive esophageal submucosal hematoma in this syndrome. Bleeding in OI is reportedly due to defective capillary integrity and platelet dysfunction; however, our patient did not show such findings...
February 2018: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29310786/production-and-purification-of-recombinant-human-sparc
#20
Gail Workman, Amy D Bradshaw
The matricellular protein SPARC (secreted protein acidic and rich in cysteine, also known as osteonectin or as BM-40) is a collagen-binding protein with a capacity to induce cell rounding and influence proliferation in cultured cells. In mice that do not express SPARC, fibrillar collagen is reduced in some adult tissues; notably, a reduction in fibrosis is reported in response to fibrotic stimuli in lungs, heart, skin, liver, and in the eye. Recently, mutations in the gene encoding SPARC were found in patients afflicted with osteogenesis imperfecta...
2018: Methods in Cell Biology
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