Beyond Achondroplasia

Growing together with Clara

January 27, 2015
by inesp.alves
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Physical Activity in Children and Adolescents with Achondroplasia

The departments of Pediatric Physical Therapy and Exercise Physiology and the Pediatric Orthopedics of Wilhelmina Children’s Hospital, University Medical Center Utrecht, The Netherlands, published in 2007 a study that collected data of response to exercise and muscle strength compared with healthy … 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 11, 2014
by inesp.alves
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10 days after

Ten days after a forced rest in the hospital, Clara is back home. After two CT scans, with 12 days interval between both, while in a “cage rest”, Clara was discharged from the hospital, but with restrictions. The neurosurgeons team decided that … Continue reading

December 5, 2014
by inesp.alves
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Meclozine potential for achondroplasia

On the 2nd December, the next article was published by the japonese team leaded by Prof. Matsushita: “Meclozine promotes longitudinal skeletal growth in transgenic mice with achondroplasia carrying a gain-of-function mutation in the FGFR3 gene” This team used the drug repositioning strategy entifying … Continue reading

December 5, 2014
by inesp.alves
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Time for decisions

On the 1st December Clara was hospitalized. Although she seems to be very well, her neurosurgeon plan is that Clara stays at the hospital for a rest period of 10 days and to be close monitorized to evaluate the hematoma … Continue reading

November 25, 2014
by inesp.alves
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Far from the tree

I’ve been reading this amazing book for a while now. It´s dense, but clear. An excelent book by Andrew Solomon. And it open ideas wider than I could imagine. It as become a moment for pause in my days. Now, … 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

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 17, 2014
by inesp.alves
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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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