keyword
MENU ▼
Read by QxMD icon Read
search

imperfecta osteogenesis

keyword
https://www.readbyqxmd.com/read/28548288/hypermineralization-and-high-osteocyte-lacunar-density-in-osteogenesis-imperfecta-type-v-bone-indicate-exuberant-primary-bone-formation
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28480432/whole-body-vibration-exercise-improves-functional-parameters-in-patients-with-osteogenesis-imperfecta-a-systematic-review-with-a-suitable-approach
#9
Danubia C Sá-Caputo, Carla da F Dionello, Éric Heleno F F Frederico, Laisa L Paineiras-Domingos, Cintia Renata Sousa-Gonçalves, Danielle S Morel, Eloá Moreira-Marconi, Marianne Unger, Mario Bernardo-Filho
BACKGROUND: Patients with osteogenesis imperfecta (OI) have abnormal bone modelling and resorption. The bone tissue adaptation and responsivity to dynamic and mechanical loading may be of therapeutic use under controlled circumstances. Improvements due to the wholebody vibration (WBV) exercises have been reported in strength, motion, gait, balance, posture and bone density in several osteopenic individuals, as in post-menopausal women or children with disabling conditions, as patients with OI...
2017: African Journal of Traditional, Complementary, and Alternative Medicines: AJTCAM
https://www.readbyqxmd.com/read/28479497/maternal-smoking-during-pregnancy-is-associated-with-childhood-bone-fractures-in-offspring-a-birth-cohort-study-of-6718-children
#10
Roope Parviainen, Juha Auvinen, Tytti Pokka, Willy Serlo, Juha-Jaakko Sinikumpu
In children there is limited understanding about the biological and environmental risk factors of fractures. Therefore, we aimed to study the effect of maternal smoking on preschool children's fractures hypothesizing that the fracture risk might be programmed during intrauterine growth in means of disturbed bone formation. A prospective birth cohort included women living in Northern Finland with an expected date of delivery between July 1st, 1985 and June 30th, 1986 (N=9362), and their offspring (N=9432). Smoking was inquired during pregnancy and when the offspring reached seven years of age...
May 4, 2017: Bone
https://www.readbyqxmd.com/read/28475764/the-chaperone-activity-of-4pba-ameliorates-the-skeletal-phenotype-of-chihuahua-a-zebrafish-model-for-dominant-osteogenesis-imperfecta
#11
Roberta Gioia, Francesca Tonelli, Ilaria Ceppi, Marco Biggiogera, Sergey Leikin, Shannon Fisher, Elena Tenedini, Timur A Yorgan, Thorsten Schinke, Kun Tian, Jean-Marc Schwartz, Fabiana Forte, Raimund Wagener, Simona Villani, Antonio Rossi, Antonella Forlino
Classical osteogenesis imperfecta (OI) is a bone disease caused by type I collagen mutations and characterized by bone fragility, frequent fractures in absence of trauma and growth deficiency. No definitive cure is available for OI and to develop novel drug therapies, taking advantage of a repositioning strategy, the small teleost zebrafish (Danio rerio) is a particularly appealing model. Its small size, high proliferative rate, embryo transparency and small amount of drug required make zebrafish the model of choice for drug screening studies, when a valid disease model is available...
May 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28474170/muscle-function-in-osteogenesis-imperfecta-type-iv
#12
Louis-Nicolas Veilleux, Vasiliki B Darsaklis, Kathleen Montpetit, Francis H Glorieux, Frank Rauch
Results of previous studies suggest that children and adolescents with osteogenesis imperfecta (OI) type IV have muscle force deficits. However, muscle function remains to be objectively quantified in this population. This study aimed to assess upper and lower extremity muscle function in patients with OI type IV. It was carried out in the outpatient department of a pediatric orthopedic hospital; 27 individuals with OI type IV (7-21 years; 13 males), 27 age- and sex-matched individuals with OI type I, and 27 age- and sex-matched controls...
May 4, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28472303/the-effect-of-whole-body-vibration-training-on-bone-and-muscle-function-in-children-with-osteogenesis-imperfecta
#13
Wolfgang Högler, Janis Scott, Nick Bishop, Paul Arundel, Peter Nightingale, M Zulf Mughal, Raja Padidela, Nick Shaw, Nicola Crabtree
Context: Osteogenesis imperfecta (OI) is a bone fragility disorder associated with reduced muscle size, dynamic muscle function and mobility. Objective: To assess the effect of whole body vibration (WBV) training on bone density and geometry, muscle size and function, mobility, and balance in children with OI. Design: Randomised controlled pilot trial. Setting: Tertiary paediatric research centre. Participants: Twenty-four children (5-16 years) with OI types 1,4 and limited mobility (CHAQ score ≥0...
May 3, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28461254/combination-sclerostin-antibody-and-zoledronic-acid-treatment-outperforms-either-treatment-alone-in-a-mouse-model-of-osteogenesis-imperfecta
#14
David G Little, Lauren Peacock, Kathy Mikulec, Michaela Kneissel, Ina Kramer, Tegan L Cheng, Aaron Schindeler, Craig Munns
In this study, we examined the therapeutic potential of anti-Sclerostin Antibody (Scl-Ab) and bisphosphonate treatments for the bone fragility disorder Osteogenesis Imperfecta (OI). Mice with the Amish OI mutation (Col1a2 G610C mice) and control wild type littermates (WT) were treated from week 5 to week 9 of life with (1) saline (control), (2) zoledronic acid given 0.025mg/kg s.c. weekly (ZA), (3) Scl-Ab given 50mg/kg IV weekly (Scl-Ab), or (4) a combination of both (Scl-Ab/ZA). Functional outcomes were prioritized and included bone mineral density (BMD), bone microarchitecture, long bone bending strength, and vertebral compression strength...
April 29, 2017: Bone
https://www.readbyqxmd.com/read/28453375/genetic-factors-influencing-the-reduction-of-central-corneal-thickness-in-disorders-affecting-the-eye
#15
Joanna Swierkowska, Marzena Gajecka
BACKGROUND: The aim was to summarize and discuss the current knowledge about genetic factors influencing the reduction of central corneal thickness (CCT) in disorders affecting the eye, such as primary open-angle glaucoma (POAG), brittle cornea syndrome (BCS), keratoconus (KTCN), Ehlers-Danlos syndrome (EDS; types I, II, and VI), osteogenesis imperfecta (OI), and myopia. MATERIALS AND METHODS: A review of the published literature by use of key databases such as PubMed was undertaken in accordance with PRISMA guidelines and experience based on own research findings was applied...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28448325/combined-spinal-epidural-anesthesia-with-dexmedetomidine-based-sedation-for-multiple-corrective-osteotomies-in-a-child-with-osteogenesis-imperfecta-type-iii-a-case-report
#16
Anju Gupta, Geeta Kamal, Nishkarsh Gupta, Anil Aggarwal
Osteogenesis imperfecta (OI) is a rare disabling genetic connective tissue disorder. General anesthesia in these patients is associated with increased risks. Regional anesthesia is favored wherever feasible, but there are limited reports of use of a sole regional technique in OI in pediatric patients. Moreover, combined spinal-epidural anesthesia has never been described previously. We are reporting the use of combined spinal-epidural anesthesia for a prolonged surgery (multiple osteotomies) of lower limbs in a 10-year-old wheelchair-bound child with OI type III...
April 26, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28442844/a-rare-case-of-bilateral-morgagni-s-hernia-with-intestinal-obstruction-and-malrotation-of-the-gut-in-an-adult-patient-with-severe-osteogenesis-imperfecta-presenting-as-severe-respiratory-distress
#17
S Y Kulgod, Amit Shivashankar Ammanagi, Pradeep Vagarali, Ravi Patil
Osteogenesis imperfecta (OI) is associated with congenital inguinal hernia that can occur due to genetic mutation. Morgagni's hernia is a rare congenital diaphragmatic herniation and is usually diagnosed in childhood. We present a case of an 18-year-old male presenting with bilateral Morgagni's hernia with intestinal obstruction with osteogenesis imperfecta with malrotation of the gut.
April 2017: Indian Journal of Surgery
https://www.readbyqxmd.com/read/28436160/compound-heterozygous-mutations-in-col1a1-associated-with-an-atypical-form-of-type-i-osteogenesis-imperfecta
#18
Amanda M Ackermann, Michael A Levine
Heterozygous mutations in the genes encoding the proα1(I) or proα2(I) chains of type I procollagen (COL1A1 and COL1A2, respectively) account for most cases of osteogenesis imperfecta (OI), a disorder characterized by reduced bone strength and increased fracture risk. COL1A1 mutations can also cause rare cases of Ehlers-Danlos syndrome (EDS), a disorder that primarily affects connective tissue and often includes reduced bone mass. Here we present a kindred of three young siblings ages 1-4 years old whose mother has a history of mild type I OI...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28435282/managing-the-patient-with-osteogenesis-imperfecta-a-multidisciplinary-approach
#19
REVIEW
Caroline Marr, Alison Seasman, Nick Bishop
Osteogenesis imperfecta (OI) is a heterogeneous heritable connective tissue disorder characterized by low bone density. The type and severity of OI are variable. The primary manifestations are fractures, bone deformity, and bone pain, resulting in reduced mobility and function to complete everyday tasks. OI affects not only the physical but also the social and emotional well-being of children, young people, and their families. As such, medical, surgical, and allied health professionals' assessments all play a role in the management of these children...
2017: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/28433416/static-postural-control-in-youth-with-osteogenesis-imperfecta-type-i
#20
Annie Pouliot-Laforte, Martin Lemay, Frank Rauch, Louis-Nicolas Veilleux
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 control and lower-limbs muscle function. DESIGN: This is a cross-sectional study. SETTINGS: The study was carried out in the outpatient department of a pediatric orthopedic hospital. PARTICIPANTS: 22 individuals with OI type I (mean age [range]: 13...
April 19, 2017: Archives of Physical Medicine and Rehabilitation
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"