Latest posts tagged with #nf1 on Bluesky
🚨 Avance en enfermedades raras
China aprueba Selumetinib para NF1-PN, ampliando su uso de niños (3+) a adultos. Inhibidor de MEK con buen control tumoral y mejora de síntomas
💡 Más opciones de tratamiento a lo largo de la vida
⚠️ Solo educativo
#NF1 #RareDisease #Selumetinib #Oncology #ChinaNMPA
Fluorescent microscopy image of nf1 zebrafish model. Green signals represent increased pERK levels in nf1 mutant larvae compared to wild type. Magenta signals denote decreased levels of phosphorylated ERK1/2 (pERK) in nf1 mutant larvae compared to those in wild type.
The latest #EditorsChoice is from Miller, Halloran & co @uwmadison.bsky.social as they show that inhibition of chemokine receptor (Cxcr4) signaling improves habituation learning and increases cAMP signaling in a #zebrafish model of neurofibromatosis #NF1
doi.org/10.1242/dmm....
#Cancer therapy-related cardiac dysfunction (#CTRCD) appeared in 23% of neurofibromatosis type 1 (#NF1) patients receiving #Trametinib monotherapy in the phase 2 TRAIN trial.
Read more: https://bit.ly/4lSnxS2
#RareDisease #MedSky
An eye-tracking study in preschool children with neurofibromatosis type 1 #NF1 shows reduced attention to social stimuli and slower joint attention, highlighting targets for early intervention
onlinelibrary.wiley.com/doi/10.1111/...
#Trametinib and #Fimepinostat demonstrated potent antitumor activity in malignant peripheral nerve sheath tumor (#MPNST) cell lines derived from patients with neurofibromatosis type 1 (#NF1). Study in Cancers.
Learn more: https://bit.ly/3Ntn2kL
#RareDisease #MedSky #NeurofibromatosisType1
Adam Pearson rouba a cena no Oscar 2026: ator britânico aumenta visibilidade sobre a doença rara que causa tumores benignos nos nervos. 💪✨
#AdamPearson #Neurofibromatose #NF1 #Oscar2026 #Conscientização #AtorBritânico #ADifferentMan #Cinema
www.memeiros.com/2026/03/adam...
In patients with suspected neurofibromatosis type 1 (#NF1) or other #Neurofibromatoses who do not meet clinical criteria, RNA-based testing and tissue analysis can reclassify variants of uncertain significance and confirm or rule out a diagnosis.
Read here: https://bit.ly/4qR278M
#RareDisease
Neurofibromatosis type 1 (#NF1) is associated with a high disease burden, but significant gaps in the literature regarding key areas of care remain. Study in Neuro-Oncology Advances @neuroonc.bsky.social
Read more: https://bit.ly/4qH9oJ5
#RareDisease #NeurofibromatosisType1 #MedSky
New research reveals that people with #NF1 face higher mortality from nervous system diseases in addition to cancer, with nearly half of years lost due to non-neoplastic causes. bit.ly/49Nydf0 #causeofdeath #neurofibromatosis
Current research has linked specific molecular mechanisms to the varied clinical presentations of #NeurofibromatosisType1 (#NF1), thus serving as a practical guideline for clinical management of the disorder.
Read more: https://bit.ly/4qB1LE9
#RareDisease #MedSky
The program looking for a cure for my condition lost all of its funding because of the administration. I don’t believe I can change anyone’s politics, but I can remind people that voting or choosing not to vote has consequences you might not have even thought about. #neurofibromatosis #NF1 #NF2
Neurofibromatosis type 1 (NF1) causes spine deformities. New study using a mouse model reveals the cellular cause and suggests a treatment that could prevent these deformities, offering hope for better management of NF1.😀
#NF1 #bone
@brjournal.bsky.social
www.nature.com/articles/s41...
A female patient was diagnosed with both #NeurofibromatosisType1 (NF1) and #PulmonaryHypertension simultaneously. Case published in @cureusmedical.bsky.social
Read more: https://bit.ly/4qjpZCg
#RareDisease #NF1 #PH #MedSky
The estimated prevalence of #Epilepsy is substantially higher among individuals with neurofibromatosis type 1 (#NF1) compared to the general population, with reported rates ranging from 4% to 14% (vs 1% to 2%) depending on the age of onset.
Learn more: https://bit.ly/44xAbyz
#RareDisease #MedSky
#PAS004 showed a long half-life of approximately 57 hours, supporting their potential for improved patient dosing and therapeutic consistency in #NeurofibromatosisType1 (NF1)-associated plexiform #Neurofibromas, Pasithea Therapeutics announced.
Read here: https://bit.ly/3KmA4z3
#RareDisease #NF1
A pediatric patient presented with atypical neurofibromatosis type 1 (#NF1) with #OcularSymptoms, highlighting that coordinated, multidisciplinary teams are needed to care for children with this disorder. Published in @cureusmedical.bsky.social
Learn more: https://bit.ly/48N2k71
#MedSky
✨ China aprueba #Luvometinib (#Fumaining):
👤 Para adultos con #LCH y neoplasias histiocíticas
👦👧 Para niños y jóvenes ≥2 años con #NF1 y psintomáticos
📎 Más información: dengyuepharma.com/product/fuma...
📧 info@dengyuemed.com
#NeurofibromatosisTipo1 #VíaMAPK #DengYueMedicinasEnHongKong
Half of malignant peripheral nerve sheath tumors in humans arise from #Neurofibroma progression, and current therapeutic options remain ineffective.
Read more: https://bit.ly/3MB6u9m
#NF1 #RareDisease #NeurofibromatosisType1
FDA approves AstraZeneca’s Koselugo (selumetinib) for adults with neurofibromatosis type 1 (NF1).
🔗 Full article: stellanews.life/technology_c...
#Koselugo #Selumetinib #NF1 #AstraZeneca #Alexion #RareDisease #FDAApproval #MEKinhibitor #ClinicalTrials
【Koselugo（セルメチニブ）、成人NF1患者に対する初のFDA承認薬】
アストラゼネカ（アレクシオン部門）のMEK阻害薬セルメチニブ（Koselugo）が、
神経線維腫症1型（NF1）に伴う症候性・手術不能の叢状神経線維腫（PN）を有する成人患者に対して米国初の承認薬に。
🧬 第3相KOMET試験で
・奏効率：20％（プラセボ5％）
・奏効の86％が6か月以上持続
🔹 安全性は小児適応時のデータと整合
#Koselugo #セルメチニブ #NF1 #神経線維腫症 #アストラゼネカ #Alexion #希少疾患 #MEK阻害薬 #KOMET試験
FDA expands approval of Koselugo (selumetinib) to adults with symptomatic NF1 PNs.
www.nfmidwest.org/nf1-treatmen...
#neurofibromatosis #NF1
Children with neurofibromatosis 1 (#NF1) may develop excess growth hormone and optic pathway glioma (#OPG), which can be treated with somatostatin analogs.
Read here: https://bit.ly/4pjDhy4
#RareDisease #Neurofibromatosis1 #GrowthHormone #MedSky
A young man was simultaneously diagnosed with neurofibromatosis type 1 (#NF1) and #HypertrophicCardiomyopathy, highlighting how these 2 conditions often overlap. This case report was published in Circulation.
Read more: https://bit.ly/3XyxMiZ
#RareDisease #Cardiology #MedSky
A case study has been reported describing a patient with neurofibromatosis type 1 (#NF1) who developed a rare, unusually wide range of both NF1-related and -unrelated tumors.
Read more: https://bit.ly/47P8B0x
#RareDisease #NeurofibromatosisType1 #MedSky
New Study Published
Explore 15 years of clinical data on Neurofibromatosis Type 1 in Hungary
262 patients
80% genetic test positivity
High prevalence of cognitive & skeletal complications
National protocol proposed
Full text: doi.org/10.1556/2066...
#Neurofibromatosis #NF1 #DHS #AKJournals
Your gynoid ex is dissociating, there's spilled bean juice on the kitchen counter, & the world's burning down outside... Who dunnit? Find out in my 90's-style dystopian #retrogame Neofeud 2! #NF1 is 70% off now! store.steampowered.com/app/673850/N... #indiegame #indiedev #gamedev #cyberpunk
Your gynoid ex is dissociating, there's spilled bean juice on the kitchen counter, & the world's burning down outside... Who dunnit? Find out in my 90's-style dystopian #retrogame Neofeud 2! #NF1 is 70% off now! […]
[Original post on mastodon.social]
Your gynoid ex is dissociating, there's spilled bean juice on the kitchen counter, & the world's burning down outside... Who dunnit? Find out in my 90's-style dystopian #retrogame Neofeud 2! #NF1 is 70% off now! store.steampowered.com/app/673850/N... #indiegame #indiedev #gamedev #cyberpunk
Individuals with #NeurofibromatosisType1 (NF1) acquire somatic “second-hit” mutations in the unaffected #NF1 allele, which may underlie the diverse tumor risks and clinical variability observed in the condition. Study in @natgenet.nature.com
Read here: https://bit.ly/3WhtLip
#RareDisease #NF1
Individuals with #NeurofibromatosisType1 (#NF1) frequently exhibit significant deficits in visuospatial and visuomotor abilities compared with those without NF1. Results in Neuropsychology Review.
Read more: https://bit.ly/4n3xueg
#RareDisease #Neuropsychology #RareSky #MedSky
