A question I've been thinking about a lot for the past two years, and more recently so with everything that's happening to me.

What does quality of life mean to you? *For myself I don’t know for now.

The definition is, of course, unique and specific to each person, and it changes over time.

Bonus if you're also autistic and/or have ADHD, because the growing uncertainty about my health isn't always easy to cope with...

#PTEN #Cancer #disability #chronicillness

English follows.

Une question à laquelle je réfléchis beaucoup depuis 2 ans et de plus en plus avec tout ce qui m’arrive récemment.

Qu’est-ce que c’est la qualité de vie pour vous? Je ne sais pas quoi y répondre pour le moment. Et la définition est bien sûr unique et propre à chaque personne, et varie dans le temps.

Bonus si vous êtes aussi autiste et/ou TDAH, car l’incertitude de plus en plus grande concernant ma santé n’est pas toujours facile à vivre...

#PTEN #Cancer #handicap #MaladieChronique

After a series of tumors, woman’s odd-looking tongue explains everything https://arstechni.ca/K6U5 #cowdensyndrome #Health #PTEN
After a series of tumors, woman’s odd-looking tongue explains everything

The woman was in her 60s when dermatologists finally figured things out.

Ars Technica

Happy #RareDiseasesDay to all #Spoonies! Einen schönen #TagDerSeltenenErkrankungen!

Obwohl Seltene Erkrankungen – wie der Name verrät – selten sind, leben allein in Deutschland rund 4 Millionen Betroffene, also 5% der hier lebenden Menschen. Ungefähr 80% der Seltenen Erkrankungen sind genetisch bedingt und viele der Symptome machen sich schon im Kindesalter bemerkbar.
Bei mir sind 33 Jahre ins Land gezogen, bis eine Mutation des #PTen Gens diagnostiziert wurde - natĂĽrlich ist man erstmal 1/Ă—

#Ovariancancer cells lacking tumor suppressor #PTEN require an ARF #GTPase module for #integrin-dependent #invasiveness
A #RefereedPreprint c/o @ReviewCommons by Konstantina Nikolatou, David Bryant et al
https://www.embopress.org/doi/full/10.15252/embj.2023113987
Mechanism of PTEN deficient breast cancer detailed, suggesting improved therapeutics

A group of researchers led by the Dana-Farber Cancer Institute, Boston, has illustrated the mechanistic pathway for PTEN-deficient breast cancer and successfully tested a method of countering the downstream effects of immune system evasion by tumors.

Medical Xpress
Fishing for protein partners nets clues to autism | Spectrum | Autism Research News

Connections between 13 autism-linked proteins and their binding partners in excitatory neurons implicate a new molecular pathway.

Spectrum | Autism Research News
Gebe auch hier auf Mastodon die Suche nicht auf: Gibt es hier Menschen, die das #PTen #PTenHamartomaTumorSyndrom #PHTS haben?
Two-drug combo blunts autism-linked pathway in brain | Spectrum | Autism Research News

One drug blocks mTOR signaling, and the other stops the blocker from acting anywhere in the body but the brain, lowering the potential for side effects.

Spectrum | Autism Research News
New diagnostic code for PTEN syndrome may spur research | Spectrum | Autism Research News

The code may help scientists identify people with the autism-linked condition and recruit them into clinical trials.

Spectrum | Autism Research News