Beyond Achondroplasia

Growing together with Clara

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 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

October 22, 2014
by inesp.alves
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Subdural hematoma update

Medicine is the science of the diagnosis, treatment, and prevention of diseases. But is not mathematics. Besides knowledge and experience, medical doctors need to have sensibility for the problem and inspiration. Clara’s MRI with the subdural hematoma has been evaluated by … Continue reading

October 20, 2014
by inesp.alves
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Soluble FGFR3 rectification

In my last post, about the V International congress around achondroplasia and other skeletal dysplasia, I mentioned the participation of Dr. Elvire Gouze and her lecture. She is responsable for the developement of the soluble FGFR3. Dr. Elvire Gouze was kind to … Continue reading

May 11, 2014
by inesp.alves
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Achondroplasia medical centers of expertise – Europe and USA

At the Orphanet site, it possible to find a list of 49 medical management centers and 10 genetic counselling centers in Europe. It easy to notice that Italy and France are quite ahead of other countries, having several centers. It´s … Continue reading

April 29, 2014
by inesp.alves
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Role of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models

This article, published online today in Bone research journal, (Nan Su, Min Jin, lin Chen, Bone Research 2, Article number: 14003) is an enlightenment about the fibroblast growth factor and fibroblast growth factor receptor signaling. In this review, that published quite exceptional … Continue reading

April 28, 2014
by inesp.alves
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Days to enjoy better

This last couple weeks have been intense, filled with new challenges. Clara started to take her first steps alone! She also had another sleep study (the fourth) and the report was unacceptably inconclusive (and I will address this theme here soon). … Continue reading

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