Hey, folks?

Mike Ahlers is an old friend and colleague from way back when. He's a semi-pro bicycle racer these days. He's riding in the 2025 Triple Bypass (https://www.triplebypass.org/) in Colorado to raise money for #MuscularDystrophy research, by way of the #FSHD Society (https://www.fshdsociety.org/about-us/).

Both Mike and his sister have #MuscularDystrophy (specifically, facioscapulohumeral muscular dystrophy), so he's got skin in the game.

If you've got a few bucks to spare would you please consider donating to his ride?

https://www.bikesignup.com/ahlers-fshd

»Was unterscheidet Kranke von nicht Kranken, was Menschen mit Behinderung von Menschen ohne Behinderung? Diese Frage treibt Marion um, seit sie im Alter von 15 Jahren erfuhr, dass sie an der unheilbaren Muskelerkrankung #FSHD leidet. In der Doku erzählt die in Brüssel lebende Künstlerin, wie sie es geschafft hat, sich nicht mehr über ihre #Krankheit zu definieren.«

https://leanderwattig.com/dokuliebe/2024/marion-die-grosse-verwandlung/

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

-
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

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

#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/