Beyond Achondroplasia

Growing together with Clara

January 7, 2015
by inesp.alves
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Challenges of treating growth plate in children with achondroplasia

In “Achondroplasia: A view to the future options emerging from the benchside”, Narayana, J., Horton, W.A, 2013, there is a very interesting point that reflects the challenges of bringing FGFR3-based therapies to the bedside. “Despite the considerable recent progress in the … Continue reading

December 31, 2014
by inesp.alves
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Compassionate use policy for orphan drugs

“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

December 23, 2014
by inesp.alves
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Genu varum – bowleg

The etymology of this medical term comes from latim: genu – knee and varus- bent outward. It reflects a deformity in which one or both legs are bent outward at the knee and it also known by bowleg. Varum – singular. Varus – plural Genu … Continue reading

December 16, 2014
by inesp.alves
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The International Classification of Functioning, Disability, and Health (ICF)

ICF is the WHO framework for measuring health and disability at both individual and population levels. Although many things might be not be measurable!, this is an interesting summary vision of achondroplasia by the : Optimal Management of complications associated … Continue reading

November 25, 2014
by inesp.alves
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Day dreaming by Joan Pahisa

Joan is an amazing young man. He has a great smile, always inspiring others, very well-educated and with a genial energy for sports. He is totally engaging. I meet him last October during the International Congress around achondroplasia and other skeletal … Continue reading

November 20, 2014
by inesp.alves
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CNP resistance in achondroplasia

Last month, while talking with Prof. Yayon (one of the world leaders in the research for a treatment for achondroplasia), I asked him about his opinion about the efficacy of BMN-111, and he answered: “Children with achondroplasia have lots of CNP”. Well, … Continue reading

November 18, 2014
by inesp.alves
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Understanding clinical trials

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

November 11, 2014
by inesp.alves
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Anesthesia recommendations for achondroplasia

This is an important document, by www.orphananesthesia.eu. It´s good to carry it together with all the medical information once is very likely that a person with achondroplasia will need to be submitted, since early days, to some type of surgical procedure … Continue reading

November 6, 2014
by inesp.alves
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Midfacial hypoplasia in achondroplasia: How surgery can rescue the upper respiratory function

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

November 1, 2014
by inesp.alves
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Statins for achondroplasia update

I contacted Professor Noriyuki Tsumaki, the head researcher for the study of the use of statins in achondroplasia, also mentioned in a post here. I kindly got  the following asnwers: “Statins should not be used in children because statins decrease cholesterol, … Continue reading

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