Not a bad run for a guy who has to use a leg brace #footdrop #running #FSHD #turbomed

¡Hola! Llevo ya tiempo por aquí, pero he visto a mucha gente haciendo su #introducción o #presentación así que me animo a hacer lo mismo, que no lo había hecho aún en esta instancia:

📚 Con mucho síndrome del impostor digo que soy #escritor, he publicado ya algunas cosillas, tanto por mi cuenta como en editorial. Mis historias tienen representación #queer y de personas con #discapacidad.
🖥️ Soy muy seriéfilo, veo bastantes #series en mi día a día. Últimamente vivo por y para los #kdramas, no logro salir de ese pozo.
😜 Me encantan los chistes malos.
🙅‍♂️ No tolero los discursos de odio. Ni capacitismo, ni LGTBIfobia, ni racismo, ni transfobia, ni machismo...
♿ Tengo una discapacidad, una distrofia muscular conocida como #FSHD.
🇰🇷 Me gusta el #kpop y el idioma #coreano, que trato de aprender por mi cuenta con más o menos acierto.

Posiblemente me olvido de algo pero me quedo sin espacio 😂

Saturdays at the climbing gym are fun. I get to watch lots of people more fit than me (and without muscular dystrophy) be worse at me than climbing.

#climbinggym #saturday #nyc #FSHD

🇪🇺🇫🇷 - 🇧🇷
👉Nutritional status of patients with #FSHD

💡Antioxidant supplementation confer protection against FSHD oxidative stress

https://pubmed.ncbi.nlm.nih.gov/37049513/

🇯🇵
👉Gastrointestinal cancer occurs as extramuscular manifestation in #FSHD patients

💡#Gastrointestinal #cancers not depend on #D4Z4 repeat number

📰 https://t.co/G3OKYisPvJ

🇪🇺🇳🇱
🧬Looking for a postdoc to test an #antisense #oligonucleotides #FSHD to prevent #DUX4 in #Leiden (NL)

https://t.co/QwnkvUKc5o

🇪🇺🇮🇹

📰🧬#FSHD #Muscular #dystrophy, the test that makes the diagnosis in 72 hours

https://t.co/mW882QEhq8

🇪🇺🇳🇱
👉#FSHD : the road to targeted therapies

💡Review advances in the molecular and clinical understanding of FSHD

https://t.co/pcU7H2wCxZ

💡⬇️⬇️⬇️⬇️💡
🆕2⃣0⃣2⃣3⃣🆕
⏳➡️➡️➡️➡️⏳
🌈New Year 📆
🌈New Hopes🕯️🕯️🕯️

👉 #FSHD trials phase II/III
✅ @FulcrumTx losmapimod: placebo-controlled trial
✅ @aviditybio siRNA vs DUX4 gene
❔ @Dyne_tx ASO reducing DUX4 expression
& ... 👉More than 20 biotechs at work
Go 2⃣0⃣2⃣3⃣

🇪🇺🇮🇹
👉#D4Z4 #methylation levels combined with a machine learning pipeline highlight single CpG sites as discriminating #biomarkers for #FSHD patients

💡Additional evidence for DNA methylation as a powerful disease biomarker

📰https://pubmed.ncbi.nlm.nih.gov/36552879/

🇪🇺🇳🇱
👉The effects of #FSHD and dynamic arm support on upper extremity muscle coordination in functional tasks

💡Muscle coordination differences were presumably the result of individual-specific in muscle weakness and compensatory strategies for dealing with gravity compensation and movement constraints

📰https://pubmed.ncbi.nlm.nih.gov/36581526/

🇪🇺🇪🇸
👉Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or #FSHD

💡strong correlation between miRs and biochemical data was only found in LGMD patients

📰pubmed.ncbi.nlm.nih.gov/36575500/

Check out our latest complete issue that includes heaps of #OpenAccess science:

🎇A cover featuring differentiated #myotubes derived from #FSHD patient cells
🧠An Editorial that discusses how we can improve #mouse modelling of #Schizophrenia
🧫A review on aneuploidy & #CellCompetition that explores their impact on #cancer
👂🏼 A review on #InnerEar development & disease
🐹🐭A #COVID19 model stand-off for the #EditorsChoice
🧪And much more fantastic #biomedical research

📘https://journals.biologists.com/dmm/issue/15/11

🇦🇺
👉Correlation between whole body muscle MRI and functional measures in paediatric patients with #FSHD

💡Scores for atrophy & fat replacement showed strong correlation with functional outcome measures

https://pubmed.ncbi.nlm.nih.gov/36522253/

🇹🇷
👉
Management of scapular dysfunction in #FSHD: the biomechanics of winging, arthrodesis indications, techniques & outcomes

💡That solution helps patients to maintain their activities but with several complications associated

pubmed.ncbi.nlm.nih.gov/36475552/

🇪🇺🇳🇱
👉Whole-muscle fat analysis identifies distal muscle end as disease initiation site in FSHD

💡Distal end of leg #muscles as a prime location for disease initiation in #FSHD and demonstrate a wave-like progression towards the proximal end

📰 pubmed.ncbi.nlm.nih.gov/36450865/

🇨🇦
👉Knocking Down DUX4 in Immortalized #FSHD Patient-Derived Muscle Cells

💡#Antisense #oligonucleotides induce efficient #DUX4 transcript knockdown

📰https://pubmed.ncbi.nlm.nih.gov/36401032/

🇺🇸 👇
Hiring Postdoctoral position in skeletal muscle regeneration/degeneration.

👍 NIH funded postdoctoral position is available in the laboratory of Dr. Bosnakovski.
Department of Pediatrics (University of Minnesota, USA) to work on the molecular and cellular mechanism of #FSHD.

💡 The fellow will have an opportunity to use various in vitro and in vivo models to study epigenetic and cellular aberrations induced by DUX4

👉 https://www.linkedin.com/jobs/view/3342192206/

🇪🇺🇱🇻
👉Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia

💡Prevalence per 10,000:
-0.079 for #FSHD
-0.078 for LGMD
-0.073 for Congenital myotonia,
-0.052 for SMA
-0.047 for MD1

📰 pubmed.ncbi.nlm.nih.gov/36381256/

🇨🇳
👉A feasibility study of noninvasive prenatal diagnosis in #FSHD type 1 in a Chinese family

💡 cffDNA-based haplotyping was feasible for the noninvasive prenatal diagnosis

📰pubmed.ncbi.nlm.nih.gov/36386852/