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Osteogenesis imperfecta

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https://www.readbyqxmd.com/read/28938474/response-to-letter-the-effect-of-whole-body-vibration-training-on-bone-and-muscle-function-in-children-with-osteogenesis-imperfecta
#1
Wolfgang Högler, Nick Bishop, Peter Nightingale, Nick Shaw, Raja Padidela, Nicola Crabtree
No abstract text is available yet for this article.
August 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938436/comment-on-the-effect-of-whole-body-vibration-training-on-bone-and-muscle-function-in-children-with-osteogenesis-imperfecta
#2
Heike Hoyer-Kuhn, Eckhard Schoenau, Oliver Semler
No abstract text is available yet for this article.
August 30, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28924529/anterior-fontanelle-wormian-bone-fontanellar-bone-a-review-of-this-rare-anomaly-with-case-illustration
#3
Jaspreet Johal, Joe Iwanaga, Marios Loukas, R Shane Tubbs
Wormian bones are a relatively rare skeletal anomaly that present as accessory bone(s) within the sutures of the cranium and even more rarely within the fontanelles. It is believed that they arise from the formation of abnormal cranial ossification centers. Although not extensively reported in the literature, this anomaly is thought to be associated with other anatomical anomalies such as osteogenesis imperfecta, rickets, and other bone dysplasias. When located within the fontanelles, the most likely site of occurrence is the posterior fontanelle...
July 7, 2017: Curēus
https://www.readbyqxmd.com/read/28916840/a-novel-col1a2-c-propeptide-cleavage-site-mutation-causing-high-bone-mass-osteogenesis-imperfecta-with-a-regional-distribution-pattern
#4
T Rolvien, U Kornak, J Stürznickel, T Schinke, M Amling, S Mundlos, R Oheim
Osteogenesis imperfecta (OI) is typically characterized by low bone mass and increased bone fragility caused by heterozygous mutations in the type I procollagen genes (COL1A1/COL1A2). We report two cases of a 56-year-old woman and her 80-year-old mother who suffered from multiple vertebral and non-vertebral fractures with onset in early childhood. A full osteologic assessment including dual-energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT), and serum analyses pointed to a high bone mineral density (BMD) in the hip (DXA Z-score + 3...
September 15, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28916811/an-enu-induced-splice-site-mutation-of-mouse-col1a1-causing-recessive-osteogenesis-imperfecta-and-revealing-a-novel-splicing-rescue
#5
Koichi Tabeta, Xin Du, Kei Arimatsu, Mai Yokoji, Naoki Takahashi, Norio Amizuka, Tomoka Hasegawa, Karine Crozat, Tomoki Maekawa, Sayuri Miyauchi, Yumi Matsuda, Takako Ida, Masaru Kaku, Kasper Hoebe, Kinji Ohno, Hiromasa Yoshie, Kazuhisa Yamazaki, Eva Marie Y Moresco, Bruce Beutler
GU-AG consensus sequences are used for intron recognition in the majority of cases of pre-mRNA splicing in eukaryotes. Mutations at splice junctions often cause exon skipping, short deletions, or insertions in the mature mRNA, underlying one common molecular mechanism of genetic diseases. Using N-ethyl-N-nitrosourea, a novel recessive mutation named seal was produced, associated with fragile bones and susceptibility to fractures (spine and limbs). A single nucleotide transversion (T → A) at the second position of intron 36 of the Col1a1 gene, encoding the type I collagen, α1 chain, was responsible for the phenotype...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28915122/understanding-fetal-factors-that-contribute-to-preterm-birth-sj%C3%A3-gren-larsson-syndrome-as-a-model
#6
Pippa Staps, Marije Hogeveen, Joris Fuijkschot, Joris van Drongelen, Michèl A A P Willemsen
AIM: Preterm birth is the world's leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth remains poorly understood. Sjögren-Larsson syndrome is a rare, neurometabolic disorder caused by a fatty aldehyde dehydrogenase deficiency. A majority of patients with Sjögren-Larsson syndrome is born preterm. METHODS: Data of all known Dutch patients with Sjögren-Larsson syndrome and all cases reported in literature were analyzed to learn from preterm birth in context of this rare disease...
September 15, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28913398/total-femur-arthroplasty-for-revision-hip-failure-in-osteogenesis-imperfecta-limits-of-biology
#7
Pablo Sanz-Ruiz, Manuel Villanueva-Martinez, Jose Antonio Calvo-Haro, Esther Carbó-Laso, Javier Vaquero-Martín
Osteogenesis imperfecta (OI) is a rare congenital disease characterized by alterations in bone quality, with susceptibility to fractures, instability, deformities, and osteoarthrosis. Prosthetic surgery in these patients is associated with an abnormally high rate of implant failures. On the other hand, abnormal bone fragility adds to the complexity of revision surgery in such individuals-thus representing a genuine challenge for the orthopaedic surgeon. We present a case of femoral reconstruction in a patient with OI and prosthetic loosening after reconstruction secondary to femoral septic pseudoarthrosis...
September 2017: Arthroplasty Today
https://www.readbyqxmd.com/read/28904723/osteogenesis-imperfecta-type-iv-a-newly-identified-variant-at-position-c-560-g-t-p-gly187val-in-the-col1a2-gene
#8
Akin Usta, Dilay Karademir, Eylem Sen, Selcuk Yazici, Ertan Adali, Erkan Erdem, Meric Karacan
Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation in the COL1A1 or COL1A2 genes. In this report, we present a case of osteogenesis imperfecta (OI) type IV, seen in a female fetus with incurved femurs at 18 weeks of gestation. Molecular analysis of the newborn revealed a novel mutation at position c.560 (c.560 G > T) of the exon 12 in the COL1A2 gene; which lead to the glycine modification with valine (p.Gly187Val) at codon 187. The pregnancy follow-up was uneventful...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28902000/evaluation-of-fracture-and-osteotomy-union-in-the-setting-of-osteogenesis-imperfecta-reliability-of-the-modified-radiographic-union-score-for-tibial-fractures-rust
#9
Jeanne M Franzone, Mark S Finkelstein, Kenneth J Rogers, Richard W Kruse
BACKGROUND: Evaluation of the union of osteotomies and fractures in patients with osteogenesis imperfecta (OI) is a critical component of patient care. Studies of the OI patient population have so far used varied criteria to evaluate bony union. The radiographic union score for tibial fractures (RUST), which was subsequently revised to the modified RUST, is an objective standardized method of evaluating fracture healing. We sought to evaluate the reliability of the modified RUST in the setting of the tibias of patients with OI...
September 8, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28901398/application-of-next%C3%A2-generation-sequencing-for-molecular-diagnosis-in-a-large-family-with-osteogenesis-imperfecta-type-i
#10
Mengxia Ni, Hao Ding, Shuaimei Liu, Peiran Zhu, Qiuyue Wu, Weiwei Li, Jing Zhang, Weijun Jiang, Xinyi Xia
Increased bone fragility and low bone mass are common features of osteogenesis imperfecta (OI), which is associated with connective tissue. Its type is distinguished by clinical phenotypes and molecular genetics. Although fifteen types (I‑XV) of OI have been identified at present, the majority of patients are diagnosed as OI type I‑IV. Type I collagen is responsible for OI type I‑IV, consists of α1 (I) and α2 (I) chains and is encoded by COL1A1 and COL1A2. To identify the pathogenic gene of a large Chinese family with OI type I and explain genetic heterogeneity of the patients, next‑generation sequencing (NGS) was conducted in a female with OI type I and her affected niece and daughter to search for the mutation...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28894358/therapy-with-pamidronate-in-children-with-osteogenesis-imperfecta
#11
Otilia Marginean, Raluca Corina Tamasanu, Niculina Mang, Ioana Mozos, Giorgiana Flavia Brad
Osteogenesis imperfecta (OI) is a genetic disease characterized by excessive bone fragility with fractures consecutive to minor trauma. Considering lack of standardization of therapy with pamidronate in children, it was our aim to present our experience over a period of 10 years regarding evolution and treatment in patients diagnosed with osteoporosis and OI. Nine patients diagnosed with OI were admitted to the First Pediatric Clinic, Timisoara. They were investigated (clinical, biomarkers of bone metabolism and imaging studies), and a quality-of-life questionnaire was used to evaluate the impact of OI...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28888715/acute-traumatic-rupture-of-the-patellar-tendon-in-pediatric-population-case-series-and-review-of-the-literature
#12
Mohamed Abdelhamid Ali Yousef, Scott Rosenfeld
BACKGROUND: Intact knee extensor mechanism is required for the normal function of the lower extremity. Patellar tendon rupture is a relatively rare injury with peak age incidence around 40 years and usually occurs midsubstance. The occurrence of pure patellar tendon rupture without bony avulsion is an extremely rare injury in the pediatric population with few cases reported in the literature with limited information regarding frequency, complications, and outcomes in children. However, due to increased participation in sports and high-energy recreational activities during childhood, the frequency of such injuries has progressively increased...
September 1, 2017: Injury
https://www.readbyqxmd.com/read/28882354/surgical-treatment-with-pedicle-screws-of-scoliosis-associated-with-osteogenesis-imperfecta-in-children
#13
Lucas Piantoni, Mariano A Noel, Ida A Francheri Wilson, Carlos A Tello, Eduardo Galaretto, Rodrigo G Remondino, Ernesto S Bersusky
STUDY DESIGN: Retrospective study. OBJECTIVE: To assess results of posterior instrumented fusion using pedicle screws in 12 children with osteogenesis imperfecta (OI) with spinal deformity at a single institution from 2001 to 2012. SUMMARY OF BACKGROUND DATA: This is the first case series of OI patients who underwent non-cement augmented screw-rod instrumented fusion published in the literature. METHODS: Of a total of 54 children with spinal deformity associated with OI, 12 (22...
September 2017: Spine Deformity
https://www.readbyqxmd.com/read/28880886/the-osteogenic-cell-surface-marker-bril-ifitm5-is-dispensable-for-bone-development-and-homeostasis-in-mice
#14
Alexa Patoine, Abdallah Husseini, Bahar Kasaai, Marie-Hélène Gaumond, Pierre Moffatt
BRIL (bone-restricted IFITM-like), is a short transmembrane protein expressed almost exclusively in osteoblasts. Although much is known about its bone-restricted gene expression pattern and protein biochemical and topological features, little information is available for BRIL physiological function. Two autosomal dominant forms of osteogenesis imperfecta (OI) are caused by distinct, but recurrent mutations in the BRIL gene. Yet, the underlying mechanisms by which those mutations lead to OI are still poorly understood...
2017: PloS One
https://www.readbyqxmd.com/read/28876506/bisphosphonate-therapy-and-osteogenesis-imperfecta-the-lived-experience-of-children-and-their-mothers
#15
Shirley Wiggins, Rose Kreikemeier
PURPOSE: Osteogenesis imperfecta (OI) is a chronic, genetic condition frequently described as "brittle bones." This condition is expressed by low bone density and characterized by frequent fractures with and without trauma. Additional symptoms include pain, altered growth, and challenges with mobility. This experience has a great impact on the daily life of the child diagnosed with OI and their family. With the introduction of bisphosphonate therapy children diagnosed with OI experienced an increase in bone density that included a change in symptoms and improvement in daily functioning...
September 6, 2017: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/28872564/a-novel-col1a1-mutation-causing-a-variant-of-osteogenesis-imperfecta
#16
Lindsey C McVey, Avril Mason, Rebecca Pollitt, Syed Faisal Ahmed, Esther Kinning
No abstract text is available yet for this article.
October 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28863000/osteogenesis-imperfecta-diagnosis-and-treatment
#17
Telma Palomo, Tatiane Vilaça, Marise Lazaretti-Castro
PURPOSE OF REVIEW: Here we summarize the diagnosis of osteogenesis imperfecta, discuss newly discovered genes involved in osteogenesis imperfecta, and review the management of this disease in children and adults. RECENT FINDINGS: Mutations in the two genes coding for collagen type I, COL1A1 and COL1A2, are the most common cause of osteogenesis imperfecta. In the past 10 years, defects in at least 17 other genes have been identified as responsible for osteogenesis imperfecta phenotypes, with either dominant or recessive transmission...
August 31, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28860186/heat-shock-protein-47-and-65-kda-fk506-binding-protein-weakly-but-synergistically-interact-during-collagen-folding-in-the-endoplasmic-reticulum
#18
Yoshihiro Ishikawa, Paul Holden, Hans Peter Bachinger
Collagen is the most abundant protein in the extracellular matrix in humans and is critical to the integrity and function of many musculoskeletal tissues. A molecular ensemble comprising more than twenty molecules is involved in collagen biosynthesis in the rough endoplasmic reticulum (rER). Two proteins, Heat shock protein 47 (Hsp47/SERPINH1) and 65 KDa FK506 binding protein (FKBP65/FKBP10) have been shown to play important roles in this ensemble. In humans, autosomal recessive mutations in both genes cause similar Osteogenesis Imperfecta (OI) phenotypes...
August 31, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28858097/how-frequent-is-osteogenesis-imperfecta-in-patients-with-idiopathic-osteoporosis-case-reports
#19
Ali Al Kaissi, Christian Windpassinger, Farid Ben Chehida, Maher Ben Ghachem, Nabil M Nassib, Vladimir Kenis, Eugene Melchenko, Ekatrina Morenko, Sergey Ryabykh, Jochen G Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
RATIONALE: The term idiopathic osteoporosis itself is quite a non-specific disease label, which fails to address the etiological understanding. Bone mineral density alone is not a reliable parameter to detect patients at high risk of fracture. The diversity of the clinical phenotypes of discolored teeth, blueness of the sclera, back and joint pain, cardiovascular disease, Diabetes type II, hearing problems and a long list of orthopedic problems are have to be considered. PATIENTS CONCERNS: Our study has been designed in accordance with the clinical and radiological phenotype of eleven index cases with the provisional diagnosis of OI, which was followed by genotypic confirmation...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28856575/muscle-bone-interactions-in-pediatric-bone-diseases
#20
REVIEW
Louis-Nicolas Veilleux, Frank Rauch
PURPOSE: Here, we review the skeletal effects of pediatric muscle disorders as well as muscle impairment in pediatric bone disorders. RECENT FINDINGS: When starting in utero, muscle disorders can lead to congenital multiple contractures. Pediatric-onset muscle weakness such as cerebral palsy, Duchenne muscular dystrophy, spinal muscular atrophy, or spina bifida typically are associated with small diameter of long-bone shafts, low density of metaphyseal bone, and increased fracture incidence in the lower extremities, in particular, the distal femur...
August 30, 2017: Current Osteoporosis Reports
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