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https://www.readbyqxmd.com/read/28428035/evaluation-of-the-external-fixator-truelok-hexapod-system-for-tibial-deformity-correction-in-children
#1
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
#2
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...
April 4, 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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
Kate Citron, Cosmo Veneziale, Josephine Marino, Erin M Carter, Karl J Jepsen, Cathleen Raggio
Achondroplasia is a heritable disorder of endochondral bone formation characterized by disproportionate short stature. Osteogenesis imperfecta 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 achondroplasia, 39 individuals with osteogenesis imperfecta and 37 age- and sex-matched controls (matched to historical measurements from the Bolton-Brush Collection)...
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28045856/a-multiparametric-alarm-criterion-for-motor-evoked-potential-monitoring-during-spine-deformity-surgery
#15
Martín J Segura, María E Talarico, Mariano A Noel
PURPOSE: This is a pilot study to compare changes in the amplitude, area below the curve, number of phases, duration, and latency of the intraoperative transcranial motor evoked potentials (TcMEP) for early detection of impending spinal cord injury. An empirical ratio calculated by a combination of the above-mentioned parameters was also assessed. METHODS: Intraoperative TcMEP recordings from five patients presenting with neuromuscular kyphoscoliosis, idiopathic scoliosis, achondroplasia and lumbar kyphosis, congenital kyphosis, and achondroplasia with cervical instability were reviewed...
January 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28005181/the-natural-history-of-thoracolumbar-kyphosis-in-achondroplasia
#16
Malik Ahmed, Mahmoud El-Makhy, Michael Grevitt
There are little published data on the natural history and evolution of thoracolumbar kyphotic deformity in achondroplasia. Furthermore, there are few published reports indicating the probability of symptoms and at what kyphotic angle progressive deformity might occur. The lack of knowledge of the fundamental natural history does not allow firm guidelines for the management of this problem. In this respect the role of bracing remains uncertain both in terms of altering the prognosis for further vertebral wedging and overall sagittal profile...
December 22, 2016: European Spine Journal
https://www.readbyqxmd.com/read/27987249/achondroplasia-development-pathogenesis-and-therapy
#17
REVIEW
David M Ornitz, Laurence Legeai-Mallet
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). FGFR3 is expressed in chondrocytes and mature osteoblasts where it functions to regulate bone growth. Analysis of the mutations in FGFR3 revealed increased signaling through a combination of mechanisms that include stabilization of the receptor, enhanced dimerization, and enhanced tyrosine kinase activity...
April 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/27927547/prevalence-of-scoliosis-and-thoracolumbar-kyphosis-in-patients-with-achondroplasia
#18
Bilal I Khan, Mary T Yost, Haleh Badkoobehi, Michael C Ain
STUDY DESIGN: Retrospective chart review, case series. OBJECTIVES: To determine the prevalence of scoliosis and kyphosis in patients with achondroplasia. SUMMARY OF BACKGROUND DATA: There is little published research on the prevalence of scoliosis and thoracolumbar kyphosis in patients with achondroplasia. METHODS: The authors retrospectively reviewed charts of 459 patients with achondroplasia who were seen by the senior author, an orthopedic surgeon, from 1999 through 2013, at a tertiary referral center...
March 2016: Spine Deformity
https://www.readbyqxmd.com/read/27878857/selective-serotonin-reuptake-inhibitors-and-risk-of-major-congenital-anomalies-for-pregnancies-in-japan-a-nationwide-birth-cohort-study-of-the-japan-environment-and-children-s-study
#19
Hidekazu Nishigori, Taku Obara, Toshie Nishigori, Satoshi Mizuno, Hirohito Metoki, Tetsuro Hoshiai, Zen Watanabe, Kasumi Sakurai, Mami Ishikuro, Nozomi Tatsuta, Ichiko Nishijima, Ikuma Fujiwara, Shinichi Kuriyama, Takahiro Arima, Kunihiko Nakai, Nobuo Yaegashi
We analyzed data from the Japan Environment and Children's Study (JECS), on the association between selective serotonin reuptake inhibitors (SSRI) use during pregnancy and the risk of developing of major congenital anomalies in Japan. JECS is an ongoing nationwide birth cohort study. The study includes 95,994 single pregnant women and their offspring. Among them172 used any SSRI up to the 12(th) gestational week. Crude analyses show a significantly increased incidence of upper limb, abdominal, and urogenital anomalies...
November 23, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27866314/factors-associated-with-health-related-quality-of-life-hrqol-in-adults-with-short-stature-skeletal-dysplasias
#20
Nitasha Dhiman, Alia Albaghdadi, Cheryl K Zogg, Meesha Sharma, Julie E Hoover-Fong, Michael C Ain, Adil H Haider
INTRODUCTION: Numerous factors associate with health disparities. The extent to which such factors influence health-related quality of life (HRQOL) among adults with short stature skeletal dysplasias (SD) is unknown. In an effort to update and clarify knowledge about the HRQOL of adults with SD, this study aimed to quantify HRQOL scores relative to the American average and assess whether specific indicators are associated with lower scores. METHODS: Members (>18 years) of Little People of America were invited to complete an online survey assessing HRQOL using the SF-12 supplemented with indicator-specific questions...
May 2017: Quality of Life Research
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