March 1, 2015
by inesp.alves
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Dr. Shimony’s team published on the 17th of February 2015 in the Childs Nerv. Syst. journal, an article about respiratory failure being responsible for most deaths among children with achondroplasia and that it is often related to cervicomedullary compression (CMC). … Continue reading
November 6, 2014
by inesp.alves
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One of achondroplasia caracteristics is midface hypoplasia, a facial dysmorphology. Hypoplasia is the underdevelopment or incomplete development of a tissue or organ. In this case, midface hypoplasia (blue region in the image) is the maxillary bone region hypoplasia and or depressed nasal bridge. In … Continue reading
October 17, 2014
by inesp.alves
2 Comments
During three full days, the V International Congress around Achondroplasia and other Skeletal Dysplasia took place in the north of Spain, very well-organized by Alpe Foundation. Several world-renowned experts attended, giving one or more lectures, over 500 people registered, mainly parents … Continue reading
September 25, 2014
by inesp.alves
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Since the surprise from the results of the first MRI, when Clara was 9 months old, that anxiety was always there on the other two times Clara was submitted to this exam. The sedation procedure with inhalatory anesthetic is smooth and painless … Continue reading
September 18, 2014
by inesp.alves
5 Comments
Nature journal published yesterday an article connecting statins to achondroplasia treatment. You can read the abstract of the article “Statin treatment rescues FGFR3 skeletal dysplasia phenotypes“.A. Yamashita et al. Nature,doi:10.1038/nature13775, 2014 Statins or HMG-CoA reductase inhibitors are a class of drugs used … Continue reading
September 15, 2014
by inesp.alves
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We are just two days of this great event and I’m honored to have been chosen to participate as a media partner. The Orphan Drugs Summit is the leading rare disease event in Northern Europe. A well-established platform where pharmaceutical companies … Continue reading
September 5, 2014
by inesp.alves
5 Comments
Alpe Foundation, one of the most important spanish and european organisations for achondroplasia, is promoting the 5th Congress, that will take place in north of Spain, Gijon, on the 11th, 12th and 13th October 2014. Their webpage is in spanish … Continue reading
August 29, 2014
by inesp.alves
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The last days, I have been doing some research about 3d bioprinting and I´m completely amazed by all that I found. This impressive technic is a huge evolution in medicine and it shows obvious signs that it will, in a … Continue reading
August 17, 2014
by inesp.alves
1 Comment
Lately, I´ve knew about other children with Clara´s age and with achondroplasia that had to undergone emergency cervico-medullary decompression surgery. I know also that some parents observe strange signs in their children without recognizing them to be neurologic alterations. I … Continue reading
July 24, 2014
by inesp.alves
1 Comment
Rarely I´ve mentioned here the hard and slow road of limb lenghtening. My first research on achondroplasia was at the day we received the genetic report confirming Clara had achondroplasia. Some moments get engraved in our memories in the hardest … Continue reading