Aefat, la asociación que agrupa a las familias con afectados por ataxia telangiectasia en España, financia este proyecto de investigación que se desarrolla desde 2018 en la Clínica Universidad de Navarra.

Dirigido por los investigadores Borja Sáez y Felipe Prósper, el proyecto busca un tratamiento que solvente el problema de la inmunodeficiencia primaria de los afectados, limitando la predisposición a infecciones recurrentes y al desarrollo de tumores hematológicos.

En este proyecto, pionero en España, están implicados distintos especialistas de las áreas de terapia celular y terapia génica, y la unidad de trasplante hematopoyético de la Clínica Universidad de Navarra.

Aefat, con el apoyo de las familias y su entorno, voluntarios y colaboradores, continúa organizando eventos deportivos y culturales solidarios para seguir recaudando fondos para investigar esta enfermedad.

Con la colaboración de Zurich, la asociación participa con algunos de sus niños y jóvenes afectados en las maratones de Sevilla, Barcelona, San Sebastián y Málaga (patrocinadas por la compañía aseguradora).

Aefat también organiza desde hace siete años el festival solidario Aitzina Folk en Vitoria-Gasteiz y desde hace cuatro, la carrera solidaria “Tus pasos mueven el mundo” en Málaga, además de participar en otras competiciones deportivas.

¿QUÉ ES LA ATAXIA TELANGIECTASIA? La ataxia telangiectasia (AT o A-T) se manifiesta habitualmente antes de los dos años de edad. Afecta a las funciones de diferentes órganos y provoca incapacidad de coordinar movimientos, pérdida progresiva de movilidad (hacia los 9 años se necesita silla de ruedas), dificultad en el habla, estancamiento en el crecimiento, inmunodeficiencia, envejecimiento prematuro, dificultades para comer, problemas en la piel y en la visión, neumonías y otras complicaciones. La enfermedad está causada por una mutación en el gen ATM, localizado en el cromosoma 11, y que codifica para una proteína fosfatidilinositol-3-kinasa. Los pacientes son más proclives a los tumores malignos (como los sarcomas, linfomas, leucemias...).

Los enfermos son plenamente conscientes de su enfermedad, ya que no afecta a sus facultades mentales, pero la AT les impide realizar de forma independiente las actividades básicas de la vida diaria como vestirse, realizar su higiene personal, alimentarse, etc. Aun así, no hay que olvidar que tienen capacidad para pensar, sentir, amar y, por supuesto, para ser felices.

¿QUÉ ES AEFAT? Aefat es una asociación sin ánimo de lucro creada en 2009 y declarada de utilidad pública desde 2014, que está formada por familiares y personas relacionadas con enfermos de ataxia telangiectasia de diferentes puntos de España. También mantiene contacto cercano con las familias de afectados en Iberoamérica, y se relaciona con asociaciones similares europeas y americanas. Aefat pertenece a FEDER (Federación Española de Enfermedades Raras) y FEDAES (Federación de Ataxias de España).


www.aefat.es

Heather Biwer of Austin, MN, shares her brief life story including being diagnosed with pancreatic cancer.

#PancreaticCancer #AustinMN #HeatherBiwer


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#usmle #step1 #step2 #medicine #pathology #physiology #education #medicalschool #pharmacology #biochemistry #highyield #lab
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Kim was diagnosed with diffuse large b-cell lymphoma in September 2020.
Kim did not initially respond to treatment, but was able to access CAR T-cell therapy. She has been in remission now since November 2021.
This is her experience with lymphoma and the transplant process.

For more information on DLBCL:
https://www.lymphoma.org.au/ty....pes-of-lymphoma/non-

CAR T-cell information:
https://www.lymphoma.org.au/ly....mphoma/treatments/ta

Video credit: Novartis

In the 1980s, HIV began spreading throughout North America and the world at large. From "gay cancer" to the myth of Patient Zero, these are some of the stories that emerged from those first few years.

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Source/Further reading:

The Basics of HIV and AIDS:
https://www.hiv.gov/hiv-basics
https://www.ncbi.nlm.nih.gov/p....mc/articles/PMC32344

CDC Opportunistic Infections:
https://www.cdc.gov/hiv/basics..../livingwithhiv/oppor

CDC Incidence rates by population sub-groups:
https://www.cdc.gov/hiv/basics/statistics.html
https://www.census.gov/quickfa....cts/fact/table/US/PS

AIDS/HIV origins and history:
https://www.healthline.com/health/hiv-aids/history
https://www.hiv.gov/hiv-basics/overview/history/hiv-and-aids-timeline
https://jech.bmj.com/content/67/6/473
https://www.nature.com/articles/nature19827
https://hivhistory.org/panels/panel-01/
https://www.the-scientist.com/....daily-news/hiv-sprea

The Story of Gaetan Dugas:
https://www.lrb.co.uk/the-pape....r/v40/n18/tom-crewe/
https://www.scribd.com/book/414171918
https://www.scribd.com/book/240406939
https://www.scribd.com/book/362833379

HIV/AIDS Today in Africa:
https://www.unaids.org/en/reso....urces/presscentre/pr
20AIDS%20mortality%20levels.
https://aids2020.unaids.org/ch....apter/region-profile

No vídeo de hoje, a Psicóloga Kássia Gonzáles (CRP: 08/31419) nos traz uma reflexão sobre o uso medicinal da #maconha, especialmente no que se refere aos efeitos em tumores, como por exemplo o câncer de mama.

Links:
* Raphael Mechoulam e o canabidiol contra o câncer
- https://youtu.be/yIm4YmexSDA

* Recurso Budtender: como ajudar seus pacientes a escolher a cepa certa
- https://www.leafly.com/news/in....dustry/the-budtender

Contato Kássia:
Instagram: @kassiapsico.e.rd

#canabidiol #cancerdemama

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