ALLMedicine™ Achondroplasia Center
Research & Reviews 697 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8028078
Orphanet Journal of Rare Diseases; Fredwall SO, Øverland B et. al.
Apr 8th, 2021 - Previous studies have found a high prevalence of obstructive sleep apnea (OSA) in children with achondroplasia, but clinical studies on this complication in adults with achondroplasia are lacking. This population-based, cross-sectional study inves...
https://doi.org/10.1007/s00381-021-05071-5 10.3171/2013.2.JNS121752 10.1227/NEU.0b013e31823f5ade 10.4103/0028-3886.198189 10.4103/0019-5413.58608 10.1016/j.clinph.2013.07.025 10.1097/BRS.0b013e3181f6f0d0 10.1213/ANE.0000000000001503 10.12998/wjcc.v3.i9.765 10.1007/s00586-018-5861-0 10.1097/BRS.0b013e3181e53434 10.4103/2152-7806.85606 10.1097/BRS.0000000000002900
Child's Nervous System : ChNS : Official Journal of the I... Kanuparthi SPV, Pahys JM et. al.
Mar 30th, 2021 - Bimodal intraoperative neuromonitoring (IONM), combining transcranial motor-evoked potentials (tcMEP) and somatosensory-evoked potentials (SSEP), enables real-time detection and prevention of spinal cord injury during pediatric spinal deformity co...
https://doi.org/10.1007/s00381-021-05129-4 10.1007/s00381-014-2559-4 10.1007/s003810050094 10.3171/ped.2005.103.3.0260 10.1016/S0140-6736(07)61090-3 10.1055/s-2006-950382 10.3171/2009.3.PEDS08344 10.1297/cpe.29.25 10.3171/2016.4.PEDS163 10.1016/j.jpeds.2009.02.048 10.1007/s00381-016-3095-1 10.1016/j.wneu.2019.04.255 10.1016/j.clinimag.2005.10.004 10.1136/jmg.16.2.140 10.1007/s00381-019-04227-8 10.3171/2011.10.PEDS1169 10.1002/ajmg.a.37394 10.1227/01.NEU.0000290903.07943.AF
Child's Nervous System : ChNS : Official Journal of the I... Shoda K, Ohe N et. al.
Mar 29th, 2021 - Hydrocephalus, a complication of achondroplasia, requires treatment when it is symptomatic. Hydrocephalus associated with achondroplasia is often treated with ventriculoperitoneal shunting, and endoscopic third ventriculostomy (ETV) is rarely perf...
https://doi.org/10.1242/dmm.048272
Disease Models & Mechanisms; Duplan MB, Dambroise E et. al.
Mar 19th, 2021 - Achondroplasia (ACH), the most common form of dwarfism is caused by a missense mutation in the gene coding for fibroblast growth factor receptor 3 (FGFR3). The resulting increase in FGFR3 signaling perturbs the proliferation and differentiation of...
https://doi.org/10.1002/ajmg.a.62142
American Journal of Medical Genetics. Part A; Tofts L, Armstrong J et. al.
Feb 27th, 2021 - The aim of this study was to estimate the childhood prevalence of achondroplasia, trends over time in birth prevalence, and age at diagnosis in Australia. Children born between 1990 and 2019 with a clinical and radiological and/or molecular diagno...
Clinicaltrials.gov 715 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8028078
Orphanet Journal of Rare Diseases; Fredwall SO, Øverland B et. al.
Apr 8th, 2021 - Previous studies have found a high prevalence of obstructive sleep apnea (OSA) in children with achondroplasia, but clinical studies on this complication in adults with achondroplasia are lacking. This population-based, cross-sectional study inves...
https://doi.org/10.1007/s00381-021-05071-5 10.3171/2013.2.JNS121752 10.1227/NEU.0b013e31823f5ade 10.4103/0028-3886.198189 10.4103/0019-5413.58608 10.1016/j.clinph.2013.07.025 10.1097/BRS.0b013e3181f6f0d0 10.1213/ANE.0000000000001503 10.12998/wjcc.v3.i9.765 10.1007/s00586-018-5861-0 10.1097/BRS.0b013e3181e53434 10.4103/2152-7806.85606 10.1097/BRS.0000000000002900
Child's Nervous System : ChNS : Official Journal of the I... Kanuparthi SPV, Pahys JM et. al.
Mar 30th, 2021 - Bimodal intraoperative neuromonitoring (IONM), combining transcranial motor-evoked potentials (tcMEP) and somatosensory-evoked potentials (SSEP), enables real-time detection and prevention of spinal cord injury during pediatric spinal deformity co...
https://doi.org/10.1007/s00381-021-05129-4 10.1007/s00381-014-2559-4 10.1007/s003810050094 10.3171/ped.2005.103.3.0260 10.1016/S0140-6736(07)61090-3 10.1055/s-2006-950382 10.3171/2009.3.PEDS08344 10.1297/cpe.29.25 10.3171/2016.4.PEDS163 10.1016/j.jpeds.2009.02.048 10.1007/s00381-016-3095-1 10.1016/j.wneu.2019.04.255 10.1016/j.clinimag.2005.10.004 10.1136/jmg.16.2.140 10.1007/s00381-019-04227-8 10.3171/2011.10.PEDS1169 10.1002/ajmg.a.37394 10.1227/01.NEU.0000290903.07943.AF
Child's Nervous System : ChNS : Official Journal of the I... Shoda K, Ohe N et. al.
Mar 29th, 2021 - Hydrocephalus, a complication of achondroplasia, requires treatment when it is symptomatic. Hydrocephalus associated with achondroplasia is often treated with ventriculoperitoneal shunting, and endoscopic third ventriculostomy (ETV) is rarely perf...
https://doi.org/10.1242/dmm.048272
Disease Models & Mechanisms; Duplan MB, Dambroise E et. al.
Mar 19th, 2021 - Achondroplasia (ACH), the most common form of dwarfism is caused by a missense mutation in the gene coding for fibroblast growth factor receptor 3 (FGFR3). The resulting increase in FGFR3 signaling perturbs the proliferation and differentiation of...
https://doi.org/10.1002/ajmg.a.62142
American Journal of Medical Genetics. Part A; Tofts L, Armstrong J et. al.
Feb 27th, 2021 - The aim of this study was to estimate the childhood prevalence of achondroplasia, trends over time in birth prevalence, and age at diagnosis in Australia. Children born between 1990 and 2019 with a clinical and radiological and/or molecular diagno...
News 11 results
https://www.staging.medscape.com/viewarticle/939744
Oct 25th, 2020 - A year of daily subcutaneous vosoritide was associated with a 0.6-inch (1.5-cm) greater increase in height than placebo in children with achondroplasia, the most common form of human dwarfism. There was no difference in the incidence of side effec...
https://www.medscape.com/viewarticle/939744
Oct 25th, 2020 - A year of daily subcutaneous vosoritide was associated with a 0.6-inch (1.5-cm) greater increase in height than placebo in children with achondroplasia, the most common form of human dwarfism. There was no difference in the incidence of side effec...
https://www.medscape.com/viewarticle/931243
May 28th, 2020 - (Reuters Health) - New clinical guidance from the American Academy of Pediatrics (AAP) on health supervision across the lifespan of people with achondroplasia focuses on recent advances in technology that can help diagnose and manage patients with...
https://www.medpagetoday.com/pediatrics/growthdisorders/80559
Jun 18th, 2019 - Children with achondroplasia, the genetic bone growth disorder that causes disproportionate dwarfism, saw sustained increases in annualized growth velocity with an investigational C-type natriuretic peptide analogue called vosoritide, researchers ...
https://www.staging.medscape.com/viewarticle/914534
Jun 17th, 2019 - The results are preliminary, but a novel investigative agent has shown promise in a small trial in children for the treatment of achondroplasia, the most common form of human dwarfism. A phase 2 proof of concept study found that treatment with vos...