Catálogo de publicaciones - revistas

<jats:sec><jats:title>Objective</jats:title><jats:p>Cut homeodomain transcription factor CUX2 plays an important role in dendrite branching, spine development, and synapse formation in layer II to III neurons of the cerebral cortex. We identify a recurrent de novo <jats:italic>CUX2</jats:italic> p.Glu590Lys as a novel genetic cause for developmental and epileptic encephalopathy (DEE).</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>The de novo p.Glu590Lys variant was identified by whole‐exome sequencing (n = 5) or targeted gene panel (n = 4). We performed electroclinical and imaging phenotyping on all patients.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The cohort comprised 7 males and 2 females. Mean age at study was 13 years (0.5–21.0). Median age at seizure onset was 6 months (2 months to 9 years). Seizure types at onset were myoclonic, atypical absence with myoclonic components, and focal seizures. Epileptiform activity on electroencephalogram was seen in 8 cases: generalized polyspike‐wave (6) or multifocal discharges (2). Seizures were drug resistant in 7 or controlled with valproate (2). Six patients had a DEE: myoclonic DEE (3), Lennox‐Gastaut syndrome (2), and West syndrome (1). Two had a static encephalopathy and genetic generalized epilepsy, including absence epilepsy in 1. One infant had multifocal epilepsy. Eight had severe cognitive impairment, with autistic features in 6. The p.Glu590Lys variant affects a highly conserved glutamine residue in the CUT domain predicted to interfere with CUX2 binding to DNA targets during neuronal development.</jats:p></jats:sec><jats:sec><jats:title>Interpretation</jats:title><jats:p>Patients with <jats:italic>CUX2</jats:italic> p.Glu590Lys display a distinctive phenotypic spectrum, which is predominantly generalized epilepsy, with infantile‐onset myoclonic DEE at the severe end and generalized epilepsy with severe static developmental encephalopathy at the milder end of the spectrum. Ann Neurol 2018;83:926–934</jats:p></jats:sec>

<jats:sec><jats:title>Objectives</jats:title><jats:p>Spontaneous intracerebral hemorrhage (ICH) poses high mortality and morbidity rates with limited evidence‐based therapeutic approaches. We aimed to evaluate the current evidence for the role of minimally invasive surgery (MIS) in the management of ICH.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>This systematic review and meta‐analysis followed recommended guidelines and protocols. Medline, Embase, Scopus, and the Cochrane Library were searched from inception up to April 12, 2024. The inclusion was restricted to randomized clinical trials (RCTs) of high quality, ensuring they were not deemed to have a high risk of bias in any of the Cochrane risk of bias tool (RoB2) domains. Primary outcomes were good functional outcome (modified Rankin scale, 0–3) and mortality beyond 90 days. Secondary outcomes were early mortality within 30 days and rebleeding rates. We pooled odds ratios (ORs) with corresponding 95% confidence intervals (CIs) using random‐effects models.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Fourteen high‐quality RCTs were included. There were 3,027 patients with ICH (1,475 randomized to MIS, and 1,452 randomized to medical management or craniotomy). Of included patients, 1,899 (62.7%) were males. MIS resulted in higher odds of achieving long‐term good functional outcome (OR, 1.51 [95% CI, 1.25–1.82]), lower odds of long‐term mortality (OR, 0.72 [95% CI, 0.57–0.90]) and lower odds of early mortality (OR, 0.73 [95% CI, 0.56–0.95]). Rebleeding rates were similar (OR, 1.10 [95% CI, 0.55–2.19]). The treatment effect of MIS was consistent across multiple sensitivity and subgroup analyses, including individuals with deep ICH.</jats:p></jats:sec><jats:sec><jats:title>Interpretation</jats:title><jats:p>This meta‐analysis provides high‐quality clinical trial evidence supporting the use of MIS as a primary treatment strategy in the management of ICH. ANN NEUROL 2024</jats:p></jats:sec>