Beyond Achondroplasia

Growing together with Clara

March 10, 2015
by inesp.alves
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Elbow deformities in achondroplasia

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

March 1, 2015
by inesp.alves
2 Comments

Surgical treatment for cervicomedullary compression among infants with achondroplasia

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

February 19, 2015
by inesp.alves
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A silent risk in limb lengthening surgery – Fat embolism

Adipocytes, also known as fat cells, are the cells that primarily compose adipose tissue, specialized in storing energy as fat. Bone marrow is the flexible tissue in the interior of long bones. The two types of bone marrow are “red marrow”, which … Continue reading

January 11, 2015
by inesp.alves
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Clinical outcome of lower limb lengthening

This recent publication : “The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation“, by  S.Kim et al, Department of Orthopaedics, New Jersey Medical School, published in March 2014, the authors made a systematic review … 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

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

October 23, 2014
by inesp.alves
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Unlock achondroplasia

The online RE(ACT) Community is organized around four main axis dedicated to research on rare and orphan diseases: Learn, Meet, Share and Support. Learn from the knowledge and experience of other researchers and patients; meet other researchers and facilitate the … Continue reading

October 20, 2014
by inesp.alves
4 Comments

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

October 17, 2014
by inesp.alves
2 Comments

Achondroplasia highlights

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

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