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achondroplasia

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https://www.readbyqxmd.com/read/28520086/activated-fgfr3-prevents-subchondral-bone-sclerosis-during-the-development-of-osteoarthritis-in-transgenic-mice-with-achondroplasia
#1
Toshiaki Okura, Masaki Matsushita, Kenichi Mishima, Ryusaku Esaki, Taisuke Seki, Naoki Ishiguro, Hiroshi Kitoh
The purpose of this study is to investigate the morphometric changes of the subchondral bone during the development of osteoarthritis (OA) in transgenic mice with achondroplasia (Fgfr3(ach) ) carrying a heterozygous gain-of-function mutation in Fgfr3. Two OA models (spontaneously developed with age: the aging model, and surgically induced by destabilization of the medial meniscus: the DMM model) were established. Articular cartilage, epiphysis and metaphysis of the knee joint were histologically and morphometrically compared between wild-type mice and Fgfr3(ach) mice in both OA models...
May 18, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28511523/achondroplasia-with-polydactyly-a-case-report
#2
Caroline Frank, Sameeya Shariff, Muddepalle Pavani, Balasubramanian Karthika, Sridhar Thathekalva
An eight-year-old girl child reported to the Department of Oral Medicine and Radiology with the chief complaint of unerupted permanent teeth for past two years. The child presented features like disproportionately short stature, rhizomelic shortening of arms and legs, long face, frontal bossing and saddle nose. Based on the findings of chest and spine radiographs and ultrasound the case was diagnosed as a rare bone disorder "Achondroplasia". This case also presents a unique feature of polydactyly. Polydactyly is a manifestation in clinical medicine because it can serve as an indicator for a plethora of congenital anamolies...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28502457/anesthesia-for-pulmonary-endarterectomy-and-extracorporeal-membrane-oxygenation-in-a-patient-with-achondroplasia
#3
Daniel Sellers, Marc De Perrot, Karen McRae, Peter Slinger
No abstract text is available yet for this article.
February 8, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28501952/final-adult-height-in-long-term-growth-hormone-treated-achondroplasia-patients
#4
Daisuke Harada, Noriyuki Namba, Yuki Hanioka, Kaoru Ueyama, Natsuko Sakamoto, Yukako Nakano, Masafumi Izui, Yuiko Nagamatsu, Hiroko Kashiwagi, Miho Yamamuro, Yoshihito Ishiura, Ayako Ogitani, Yoshiki Seino
The objective of this study was to evaluate the gain in final height of achondroplasia (ACH) patients with long-term growth hormone (GH) treatment. We analyzed medical data of 22 adult patients (8 males and 14 females) treated with GH at a dose of 0.05 mg/kg/day. Optionally, tibial lengthening (TL) was performed with the Ilizalov method in 15 patients and TL as well as femoral lengthening (FL) in 6 patients. Concomitant gonadal suppression therapy with buserelin acetate was applied in 13 patients. The mean treatment periods with GH were 10...
May 13, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28497003/achondroplasia-and-biliary-atresia-a-rare-association-and-review-of-literature
#5
Ranjit I Kylat
Achondroplasia (ACH) occurs in most cases as de novo mutations of the gene-encoding fibroblast growth factor receptor 3 (FGFR3). Biliary atresia (BA) is a progressive neonatal inflammatory and fibro-obliterative cholangiopathy affecting the extra- and intrahepatic biliary tree to varying degrees, and it results in obstruction to bile flow and cholestatic jaundice in neonates. BA is thought to be a multifactorial disease, genome association studies have shown abnormalities in susceptibility genes, and levels of fibroblast growth factor 21 (FGF21) and fibroblast growth factor 23 (FGF23) have been noted to be increased...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28481811/trochanteric-entry-for-femoral-lengthening-nails-in-children-is-it-safe
#6
Ahmed I Hammouda, Julio J Jauregui, Martin G Gesheff, Shawn C Standard, John E Herzenberg
BACKGROUND: Antegrade intramedullary (IM) nailing for skeletally immature femur fractures can damage the capital femoral epiphysis blood supply, leading to avascular necrosis (AVN) of the femoral head. Reported AVN rates are 2% for piriformis entry and 1.4% for trochanteric entry. None of previous reports described IM lengthening nails for limb lengthening procedures. We have used self-lengthening telescopic nails with a proximal Herzog bend and standard trochanteric entry for femoral lengthening in children...
June 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28428035/evaluation-of-the-external-fixator-truelok-hexapod-system-for-tibial-deformity-correction-in-children
#7
Sébastien Pesenti, Christopher A Iobst, Franck Launay
BACKGROUND: Tibial deformities are common in paediatric orthopaedic practice. Correcting multiplanar tibial deformities associated with lower limb length discrepancycan be challenging. Hexapod external fixation with gradual correction has been proven effective in this situation. OBJECTIVE: To assess clinical and radiological outcomes of gradual tibial deformity correction using the external fixator TL-HEX(TM)(Orthofix) in children. HYPOTHESIS: TL-HEX™ is effective in correcting tibial deformities in children...
April 17, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28374958/a-height-for-age-growth-reference-for-children-with-achondroplasia-expanded-applications-and-comparison-with-original-reference-data
#8
Julie Hoover-Fong, John McGready, Kerry Schulze, Adekemi Yewande Alade, Charles I Scott
The height-for-age (HA) reference currently used for children with achondroplasia is not adaptable for electronic records or calculation of HA Z-scores. We report new HA curves and tables of mean and standard deviation (SD) HA, for calculating Z-scores, from birth-16 years in achondroplasia. Mixed longitudinal data were abstracted from medical records of achondroplasia patients from a single clinical practice (CIS, 1967-2004). Gender-specific height percentiles (5, 25, 50, 75, 95th) were estimated across the age continuum, using a 2 month window per time point smoothed by a quadratic smoothing algorithm...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28364903/long-term-follow-up-of-a-patient-with-achondroplasia-treated-with-an-orthodontic-approach
#9
Hiroyo Mori, Kazuma Matsumoto, Nobuhiko Kawai, Takashi Izawa, Shinya Horiuchi, Eiji Tanaka
We successfully treated a patient with achondroplasia with conventional orthodontic techniques. It was followed by long-term retention. The patient, a 12-year-old boy, had chief complaints of occlusal disturbance and mandibular protrusion. He had been diagnosed with achondroplasia and had growth hormone treatment in his early teenage years. His facial profile was concave with a bulging forehead and a retrognathic maxilla. It was characterized by a skeletal Class III jaw-base relationship with a retropositioned maxilla...
April 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/28298517/phosphoproteomics-of-fgf1-signaling-in-chondrocytes-identifying-the-signature-of-inhibitory-response
#10
Jessica R Chapman, Olga Katsara, Rachel Ruoff, David Morgenstern, Shruti Nayak, Claudio Basilico, Beatrix Ueberheide, Victoria Kolupaeva
Fibroblast growth factor (FGF) signaling is vital for many biological processes, beginning with development. The importance of FGF signaling for skeleton formation was first discovered by the analysis of genetic FGFR mutations which cause several bone morphogenetic disorders, including achondroplasia, the most common form of human dwarfism. The formation of the long bones is mediated through proliferation and differentiation of highly specialized cells - chondrocytes. Chondrocytes respond to FGF with growth inhibition, a unique response which differs from the proliferative response of the majority of cell types; however its molecular determinants are still unclear...
March 15, 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28297043/avascular-retinal-findings-in-a-child-with-achondroplasia
#11
Hong-Uyen T Hua, Kimberly D Tran, Carlos A Medina, Brenda Fallas, Cathy Negron, Audina M Berrocal
The authors present clinical and angiographic findings in a 12-year-old girl with achondroplasia who presented with bilateral retinal peripheral nonperfusion and unilateral rhegmatogenous retinal detachment, which has not been previously described in achondroplasia. This report contributes incremental knowledge regarding aberrant retinal vascular phenomena observed in pediatric disease states and implicates the possible role of mutations in the FGFR3 gene in peripheral vascular abnormalities. [Ophthalmic Surg Lasers Imaging Retina...
March 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28280081/myxoedema-in-a-patient-with-achondroplasia-in-rural-area-of-guatemala
#12
Michel Juarez, Peter Rohloff
A 43-year-old indigenous Guatemalan woman with achondroplasia presented to our clinic with chronic fatigue and generalised oedema. She had limited contact with the formal healthcare system. However, 1 year prior, she had sought medical evaluation from a private physician. Her symptoms had been attributed to a combination of heart failure and physical disability due to the musculoskeletal complications of her achondroplasia. She was lost to follow-up due to inability to pay for further testing or treatment...
March 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28253570/-clinical-analysis-of-21-cases-with-short-fetal-femur-in-the-third-trimester
#13
Y Ren, Y Q You, H H Zhou, L X Wang, H Xu, R B Li, S J Wang, X X Xie, Y G Meng, Y P Lu
Objective: To analyze the clinical features and to explore the etiology of short fetal femur during the third trimester. Methods: From January 2010 to June 2016, 21 singleton pregnancies with short fetal femur detected by ultrasonography during the third trimester were referred to the Chinese PLA General Hospital. Clinical data were collected, karyotype or single nucleotide polymorphism microarray was carried out to detect chromosomal abnormalities, and FGFR3 c.1138G>A mutation detection was carried out to detect achondroplasia (ACH) via invasive procedure, respectively...
February 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28239978/sleep-disordered-breathing-and-its-management-in-children-with-achondroplasia
#14
Rossana Tenconi, Sonia Khirani, Alessandro Amaddeo, Caroline Michot, Geneviève Baujat, Vincent Couloigner, Livio De Sanctis, Syril James, Michel Zerah, Valérie Cormier-Daire, Brigitte Fauroux
Sleep-disordered breathing is a common feature in children with achondroplasia. The aim of our study was to review the poly(somno)graphic (P(S)G) findings and consequent treatments in children with achondroplasia followed in the national reference center for skeletal dysplasia. A retrospective review of the clinical charts and P(S)G of 43 consecutive children (mean age 3.9 ± 3.5 years) with achondroplasia seen over a period of 2 years was performed. Twenty four (59%) children had obstructive sleep apnea (OSA)...
February 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28230213/knock-in-human-fgfr3-achondroplasia-mutation-as-a-mouse-model-for-human-skeletal-dysplasia
#15
Yi-Ching Lee, I-Wen Song, Ya-Ju Pai, Sheng-De Chen, Yuan-Tsong Chen
Achondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of function mutation in fibroblast growth factor receptor 3 (FGFR3). Currently, there is no effective treatment for ACH. The development of an appropriate human-relevant model is important for testing potential therapeutic interventions before human clinical trials. Here, we have generated an ACH mouse model in which the endogenous mouse Fgfr3 gene was replaced with human FGFR3(G380R) (FGFR3(ACH)) cDNA, the most common mutation in human ACH...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28224446/current-care-and-investigational-therapies-in-achondroplasia
#16
REVIEW
Sheila Unger, Luisa Bonafé, Elvire Gouze
PURPOSE OF REVIEW: The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe. RECENT FINDINGS: Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery...
February 21, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28210519/achondroplasia-in-the-premature-infant-an-elusive-diagnosis-in-the-neonatal-intensive-care-unit
#17
Kimberly E Fagen, Anna R Blask, Eva I Rubio, Dorothy I Bulas
Achondroplasia is a difficult prenatal diagnosis to make before the late second and third trimester. We describe two cases where an infant was born prematurely with no overt signs of achondroplasia. Despite multiple chest and abdominal radiographs during the neonatal course, the diagnosis was not made until term equivalent age was reached. We retrospectively reviewed these two cases to highlight the elusive findings of achondroplasia in the premature infant.
January 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28186356/bone-robusticity-in-two-distinct-skeletal-dysplasias-diverges-from-established-patterns
#18
Kate Citron, Cosmo Veneziale, Josephine Marino, Erin M Carter, Karl J Jepsen, Cathleen Raggio
Achondroplasia (ACH) is a heritable disorder of endochondral bone formation characterized by disproportionate short stature. Osteogenesis imperfecta (OI) is a heritable bone and connective tissue disorder characterized by bone fragility. To investigate bone morphology of these groups, we retrospectively reviewed 169 de-identified bone age films from 20 individuals with ACH, 39 individuals with OI and 37 age- and sex-matched controls (matched to historical measurements from the Bolton-Brush Collection). We calculated robustness (Tt...
February 10, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28181399/mild-achondroplasia-hypochondroplasia-with-acanthosis-nigricans-normal-development-and-a-p-ser348cys-fgfr3-mutation
#19
Natario L Couser, Chetna K Pande, Christie M Turcott, Elaine B Spector, Arthur S Aylsworth, Cynthia M Powell
Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). Crouzon syndrome with acanthosis nigricans is caused by the pathogenic variant c.1172C>A (p.Ala391Glu) in the FGFR3 gene. The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities...
February 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28107267/the-prevalence-of-the-complications-and-their-associated-factors-in-humeral-lengthening-for-achondroplasia-retrospective-study-of-54-cases
#20
Natsuko Nakano-Matsuoka, Kenichi Fukiage, Yuki Harada, Naoya Kashiwagi, Tohru Futami
The aim of this study is to evaluate the complications of humeral lengthening and their associated factors. Fifty-four achondroplastic patients were treated by bilateral humeral lengthening. Our original shoulder sling was sufficient to prevent shoulder dislocation. Pre-existing radial head dislocation was observed in 18 patients. Lengthening was accomplished in all cases without a decrease in the elbow function. Seven humeri fractured after the fixator removal. The risk factors for postoperative fracture were a waiting period of less than 5 days, a healing index less than 25, and the concave shape of the callus...
January 19, 2017: Journal of Pediatric Orthopedics. Part B
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