Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source
PROTOCOL: The Impact of Relocation Processes on Populations Facing Socio-Territorial Inequities: A Scoping Review Protocol: A Systematic Review. [PDF]
Chagnon P +3 more
europepmc +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
ABSTRACT Just recently, successful chimeric antigen receptor (CAR) T cell therapy was reported in the first patient with refractory, anti‐diacylglycerol lipase alpha (DAGLA) antibody‐mediated autoimmune encephalitis, achieving partial clinical remission.
Dimitrios Mougiakakos +9 more
wiley +1 more source
Examination of factors affecting insomnia in older victims of the Kumamoto earthquake. [PDF]
Kanamori Y, Samiso T, Ide-Okochi A.
europepmc +1 more source
Impending erosion of penile prosthesis pump: Salvage management with pseudo-capsule excision and median raphe repositioning - A case report. [PDF]
Khan MK.
europepmc +1 more source
Long-term adaptation pathways for Venice and its lagoon under sea-level rise. [PDF]
Lionello P +14 more
europepmc +1 more source
Efficacy of group counseling in enhancing social adaptation of adolescents relocated for poverty alleviation. [PDF]
Zhu H +5 more
europepmc +1 more source
Dissecting the homeodomain <i>MAT</i> locus and engineering novel tripolar and bipolar mating systems in <i>Cryptococcus amylolentus</i>. [PDF]
Xiong L, Yadav V, Sun S, Heitman J.
europepmc +1 more source

