Massive brain swelling after cranioplasty in the setting of severe sunken flap syndrome: illustrative case. [PDF]
Walker A, Feldman M, Alvarado-Dyer R.
europepmc +1 more source
A De Novo Mutation (c.2423A>G) in <i>SAMD9</i> Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family. [PDF]
Huang Y +5 more
europepmc +1 more source
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
Therapeutic Update in Neonatal Opioid Withdrawal Syndrome: Comparative Effectiveness of Pharmacological Treatments and the ESC Assessment Model. A Systematic Review. [PDF]
Pérez-Jiménez JM +2 more
europepmc +1 more source
Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis
ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi +8 more
wiley +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
Efgartigimod as Rescue Therapy for PD-1 Inhibitor-Associated Myasthenia Gravis, Myocarditis, and Myositis (MMM) Syndrome: A 2-Case Report and Literature Review. [PDF]
Liu ZH +7 more
europepmc +1 more source

