Do you live with a Hypermobility Syndrome?
DYK: There are 6 (known) Types of Hypermobility Syndromes. Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders are two.
#hypermobility #hypermobilitysyndrome #HSD #hEDS #EDS #ehlersdanlossyndrome #sticklersyndrome #marfan #osteogenesisimperfecta
wake up babe new *inheritance pattern for #MarfanSyndrome* just dropped!
SO interesting. Familial #Marfan syndrome with an unaffected parent. The potential for trisomy FBN1 (would aorta and joints be extra strong?!) I love old-school #HumanGenetics. #Genetics pmc.ncbi.nlm.nih.gov/articles/PMC...
Update, my #RDDNIH talk is now at 2:20PM instead of 10:50AM this Friday, Feb 27! Live-streamed and in-person. Looking forward to it! #RareDisease #Marfan #CRISPR
Online first: Oliveira and colleagues review the emerging role of #ARBs in #Marfan syndrome, highlighting how losartan and its metabolites may modulate TGF-β signaling, improve endothelial function, and slow aortic root dilation.
doi.org/10.1177/1358...
I'll be sharing more about my perspective as a Rare Story speaker at NIH Rare Disease Day 2026 on Feb 27! Event is free and livestreamed to the public! #RDDNIH #Marfan
Text image with Red swoop in the upper right corner that says February is Marfan Awareness Month - The Marfan Foundation. On the bottom in a purple text block, it reads Learn more at Marfan.org | #MarfanAwareness
At the top of the image is a pink and blue gradient with the neck, chest, and arms of a thin person with long arms outstretched to their sides. White text over the image reads MARFAN SYNDROME Know the Signs - SAVE LIVES. Below that there is a thick line with thin white lines above and below it. Below the white line is a dark purple box that covers the rest of the image square. It contains text in two columns. The left column reads: LIVES Easier-to-See Signs*: • Long arms, legs, & fingers • Tall and thin body type • Curved spine • Chest sinks in or sticks out • Flexible joints • Flat feet • Crowded teeth • Stretch marks on the skin not related to weight gain/loss Text column on the right reads: Harder-to-See Signs*: • Heart problems, especially related to the aorta • Sudden lung collapse • Eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts Below, both columns in italic text it reads: *These are the most common signs. Most people will not have every feature and may have different combinations of features. Always seek expert medical advice. Under that is The Marfan Foundation logo and a link to marfan.org.
En la parte superior de la imagen hay un degradado rosa y azul con el cuello, el pecho y los brazos de una persona delgada con los brazos largos extendidos a los lados. Un texto blanco sobre la imagen dice SÍNDROME DE MARFAN Conozca los síntomas - SALVE VIDAS. Debajo hay una línea gruesa con líneas blancas delgadas arriba y abajo. Debajo de la línea blanca hay un recuadro morado oscuro que cubre el resto de la imagen cuadrada. Contiene texto en dos columnas. La columna izquierda dice: VIDAS Síntomas más fáciles de ver*: • Brazos, piernas y dedos largos • Constitución alta y delgada • Columna vertebral curvada • Pecho hundido o prominente • Articulaciones flexibles • Pies planos • Dientes apiñados • Estrías en la piel no relacionadas con el aumento o la pérdida de peso La columna de texto de la derecha dice: Síntomas más difíciles de ver*: • Problemas cardíacos, especialmente relacionados con la aorta • Colapso pulmonar repentino • Problemas oculares, incluyendo miopía severa, luxación del cristalino, desprendimiento de retina, glaucoma precoz y cataratas precoces Debajo, en ambas columnas, el texto en cursiva dice: *Estos son los síntomas más comunes. La mayoría de las personas no presentarán todas las características y pueden tener diferentes combinaciones de ellas. Consulte siempre con un médico especialista. Debajo se encuentra el logotipo de la Fundación Marfan y un enlace a marfan.org. Traducido con Google
Stepping away from my usual political posts for a moment to share that February is Marfan Awareness Month. I don’t usually share personal things, but this is close to my heart. My daughter lives with Marfan syndrome. A connective tissue disorder that can affect the heart
#Marfan #MarfanAwareness
Trop précis, la psychomotricité fine c'est pas son truc.
Il fait du lego ça aide mais il n'a pas les muscles ou les tendons dans la main ne serait ce que pour faire un signe du pouce 👍 . #Marfan
Tu vois déjà ces doigts sur les photos.
Mais je note pour moi, et on verra quand il sera plus grand !
🔔 Our December issue is live! Dive in for:
🐟 Zebrafish & liver biology
🦠 Reviews on topics in #microbiology and #enzymology
🖼️ A new Graphical Review on aminoacyl-tRNA synthetases
👩🔬 Scientists' Forum articles from the #Marfan Europe Network & our #WomenInScience writing contest
➡️ bit.ly/4pSdiOo
Textbooks teach theory. Our summer school brings it to life, connecting experts and patients with students eager to learn about rare vascular diseases.
Applications are open until Oct 27 → vascern.eu/training-and...
#VASCERNSummerSchool #RareDiseases #marfan #ehlersdanlos #lymphoedema
I won’t be talking about #marfan tomorrow but I’ll be talking about my work on another cardiovascular connective tissue disorder called PXE (Thurs at 1:30, room 206). Should be fun !!
Everybody in this room now knows what #MarfanSyndrome is. That knowledge alone will save lives. #ASHG25 #Marfan
Aflevering 21 "Daddy en het vaderland" nu in je favoriete podcast app, zoals Spotify of Apple podcasts. Volg ons en je mist geen aflevering.
#Podcast #nieuweaflevering #medisch #nieuws #wijn #verjaardag #Marfan #Moldau #Smetana #daddy
De nieuwste aflevering nummer 21 staat online en is te vinden in je favoriete podcast app. Luister en geniet (met mate).
#podcast #nieuws #daddy #Moldau #Marfan #wijn
Donald has zero sense of humor; has never told a joke nor laughed at a joke, though he enjoyed chuckles with #Epstein; Barron, like father like son....
#Marfan
More research is urgently needed to investigate the role of connective tissue disorders (CTDs), such as #Marfan syndrome and Ehlers-Danlos syndromes #EDS #hEDS, in the development and severity of #MEcfs to better understand disease mechanisms and improve patient outcomes.
4/4
I don't have #hEDS but #Marfan syndrome and developed #MEcfs two years ago, at the age of 40. Marfan syndrome, caused by mutations in the FBN1 gene affecting fibrillin-1, primarily impacts connective tissue, leading to cardiovascular, skeletal, and ocular issues.
1/
Someone ask #RFKJr if every #embryo comes equipped with perfect #genetics & only the parents are to blame for any "defect" that shows up in the fetus/child/adult? In other words, does he understand there are genetic causes to #Autism/Down Syndrome, #Fragile-X , #Marfan, #SickleCell Disease etc.
In other words, does he understand there are genetic causes to #Autism, Cystic Fibrosis, Down Syndrome, #Fragile-X Syndrome, Huntington's Disease, #Marfan Syndrome, #SickleCell Disease, etc.??? Does he know what genes are?
New #review article by Santos et al.: Skeletal muscle alterations in Marfan syndrome: a systematic review
#onlinefirst #myoblue #marfan #syndrome #skeletal-muscle
doi.org/10.1007/s109...
I scheduled my #PhD defense today 😭🎉😭🎉😭🎉Dr. T coming very soon!!!!!!!! #RareDisease #marfan #geneediting
Morgen kommt mein Wahlkreisabgeordneter mich besuchen.
Bitte ladet auch eure Wahlkreisabgeordneten ein. Alle Mitglieder des Bundestages sollten zumindest einmal mit Betroffenen o Angehörigen direkt gesprochen haben.
#MEcfs #LongCovid #Postvac #MCAS #POTS #SFN #CCI #EDS #hEDS #Marfan #FQAD #Lyme
3/x and to be in constant war with yourself and your own body, e.g. #POTS #SmallFiber #SIBO #Autoimmunity #MCAS #FQAD #FQToxicity #FlagylToxicity #EDS #hEDS #Marfan #CCI #LongCovid #LongLyme #VacInjury #LongList #LongTragedy
Hey #hEDS people, cousin Marfan over here. I remember a criss cross type body brace that's adjustable for subluxing/support. Am I crazy?? I've been subluxing shoulders to ankles and need some kind of relief or support. #marfan
I did my first significant #Marfansyndrome experiment today. No matter how it turns out, I’m proud I’ve gotten this far. Four years ago I imagined today and before grad school I never would have thought this was possible. Being a patient-scientist isn’t easy but I don’t take it for granted! #marfan
Dunkler Hintergrund mit weißer Schrift: #naME_it!
Meine Bitte an alle Patient*innenorgas: Benennt und erwähnt auf euren Websites die sogenannten "Komorbiditäten" und Co-Faktoren vieler Patient*innen mit #MEcfs -Diagnose. Dazu gehören #EDS, #hEDS, #Marfan, #POTS, #SFN, #MCAS, #CCI #FQAD, #Lyme, #MCS und mehr.
1/
#naME_it!
Presentamos en Perú las tarjetas de #Emergencia para mitigar el desconocimiento del síndrome de #Marfan en situaciones de riesgo en la atención médica del paciente, con el respaldo y la promoción del Ministerio de Salud del Perú.
Aquesta setmana...
L’al·lopurinol, primer medicament orfe per tractar la síndrome de #Marfan
Un avenç del #Clínic-#IDIBAPS, la UB i el CIBERER contra aquesta malaltia minoritària que afecta greument el sistema cardiovascular
@ub.edu @hospitalclinic.bsky.social
👉https://f.mtr.cool/iheiexymvw
🆕 L’al·lopurinol, primer medicament orfe per tractar la síndrome de #Marfan
Un avenç del #Clínic-#IDIBAPS, la UB i el CIBERER contra aquesta malaltia minoritària que afecta greument el sistema cardiovascular
@ub.edu @hospitalclinic.bsky.social
👉https://f.mtr.cool/bnkqhtdbjv
