April 11, 2016
by inesp.alves
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ReACH is a project created for achondroplasia by Prof. Krejci research team. “Prof. Krejci is doing research related to FGFR3 for more than 15 years, focusing in dissecting the mechanisms of fibroblast growth factor (FGF) signaling. His research team works … Continue reading
March 20, 2016
by inesp.alves
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“Achondroplasia has a variety of head and neck manifestations. The otolaryngologic complications include respiratory manifestations as a result of upper airway obstruction and frequent otitis media which may be accompanied by hearing loss and delayed speech”. Bilateral Ossiculoplasty in 1 Case … Continue reading
October 19, 2015
by inesp.alves
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The clinical trial: “A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia (ACH)” will have a new cohort of up to 60mg/kg. This information was obtain in the clinicaltrial.gov page. Cohort 4 has recently begun … Continue reading
September 21, 2015
by inesp.alves
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Children with achondroplasia usually have strategies to pass by different phases of gross motor skills acquisition. In the article “Development in children with achondroplasia: a prospective clinical cohort study” Ireland, P. J., Donaghey, S., McGill, J., Zankl, A., Ware, R. S., … Continue reading
June 10, 2015
by inesp.alves
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Bone turnover – total volume of bone that is resorbed and formed over a period of time, usually expressed as percent/year. It can be estimated by measuring relevant bone biomarkers [1]. Bone remodelling – It’s a dynamic physiological event and … Continue reading
May 2, 2015
by inesp.alves
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Dental management in achondroplasia is a subject that I consider quite relevant, although few things have been published about this theme. Orthodontics and dentofacial orthopedics can cause speech and respiratory alterations and pathology. While “general” dentists can provide orthodontic treatment along with … Continue reading
March 10, 2015
by inesp.alves
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Clara has a reduced elbow extension and I started doing research about the elbow´s anatomy in achondroplasia and if there could be any physiotherapy approach to improve the elbow extension. Until the moment, I haven´t found any. I found this guideline: Achondroplasia (0 to … Continue reading
January 20, 2015
by inesp.alves
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Recently, I had valid information that BioMarin announced that the measurement study is now open for recruitment again for the multicenter study. However, BioMarin didn´t change the age requirement, so children still need to be 4.5 years or older. The person … Continue reading
December 31, 2014
by inesp.alves
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“Compassionate use is a treatment option that allows the use of an unauthorised medicine. Compassionate use programmes are for patients who have a disease with no satisfactory authorised therapies or cannot enter a clinical trial. They are intended to facilitate … Continue reading
November 18, 2014
by inesp.alves
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This is a quite delicate subject once I´ve realized that many people, specially parents, see clinical trials as a way to convert their children or themselves into guinea pigs. Well, the goal of a clinical trial is to improve health … Continue reading