Publications by authors named "Raquel Gasque Rubio"

Background: Patients with multiple sclerosis (MS) may remain in a relapsing-remitting (RRMS) course despite long-standing disease, while others will develop secondary progression (SPMS). Chronic inflammation and changes in the blood-brain barrier resulting in perturbed glucose metabolism may account for these differences. PET-MRI with kinetic analysis of 2-deoxy-2(18 F)fluoro-d-glucose (18 F-FDG) provides insight into glucose metabolism and has proven useful in several chronic inflammatory diseases.

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Background: Serum neurofilament light chain (sNfL) is a biomarker of neuroaxonal destruction that correlates with acute inflammation (AI) in multiple sclerosis (MS). However, in the treatment era, progression without AI is the main driver of long-term disability. sNfL may provide added value in detecting ongoing axonal damage and neurological worsening in patients without AI.

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Background: sNfL, a promising biomarker for neuroaxonal damage in Multiple Sclerosis (MS), requires cautious interpretation due to several comorbidity influences.

Objectives: To investigate the impact of renal function on sNfL levels in MS patients.

Methods: This retrospective study stratified patients by MS clinical phenotype, acute inflammatory activity (AIA) status-defined as relapse or gadolinium-enhancing lesions within 90 days of sample collection-renal function, assessed by estimated glomerular filtration rate (eGFR), and age (< 40 years, 40-60 years, > 60 years).

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Immunohistochemical studies have identified complement component C1q in MS lesions. We aimed to compare serum (sC1q) and CSF (csfC1q) levels in a large cohort of MS patients (pwMS) (n = 222) with those of healthy controls (HC, n = 52), individuals with other immune (IND, n = 14), and non-immune neurological disorders (nIND, n = 15), and to analyze their correlation with other biomarkers. pwMS were divided into three series based on their origin.

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Background: Our objective was to explore various biomarkers for predicting suboptimal responses to disease-modifying treatments (DMTs) in patients with MS (pwMS).

Methods: We conducted a longitudinal, bicentric study with pwMS stratified based on their DMTs responses. Treatment failure (TF) was defined as the onset of a second relapse, presence of two or more T2 new lesions, or disability progression independent of relapse during the follow-up period.

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Background: various prognostic factors of multiple sclerosis have been identified, including demographic, clinical, radiological, and laboratory factors. The aim was to analyze whether the presence of IgM oligoclonal bands against lipids is associated with disease progression.

Methods: an individual-based, prospective, observational study was conducted at the Neurology Department of Hospital Universitari i Politècnic la Fe.

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Background: Intrathecal immunoglobulin synthesis (ITS) plays a crucial role in the diagnosis of multiple sclerosis (MS). Traditionally, the gold standard method for detecting ITS has been through the analysis of oligoclonal bands (OCB). However, the paradigm has shifted with the introduction of the free kappa light chains (FKLC) method.

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Objective: To determine baseline cerebrospinal fluid and magnetic resonance imaging (MRI) variables at the onset of a clinically isolated syndrome (CIS) suggestive of multiple sclerosis (MS) that predict evolution to secondary progressive MS (SPMS).

Methods: 276 CIS patients with a minimum follow-up of 10 years were studied. Baseline presence of oligoclonal IgG and IgM bands (OCGB and OCMB respectively); number of brain T2 lesions (B-T2L), brain gadolinium enhancement lesions (brain-GEL), cervical spinal cord T2 lesions (cSC-T2L); and fulfillment of 2017 McDonald criteria among other variables were collected.

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Introduction: mRNA coronavirus disease 2019 (COVID-19) vaccination has been widely used to arrest the spread of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. Rarely, autoimmune events such as relapses in patients with multiple sclerosis (MS) have been reported after vaccination. However, the possible effects of vaccination in a patient already experiencing the symptoms of a relapse represent an unusual scenario that has not been described.

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Cerebrospinal kappa free light chain (KFLC)-index is a marker of intrathecal immunoglobulin synthesis that aids in the diagnosis of multiple sclerosis (MS). However, little evidence exists on its prognostic role. Our aim is to analyze the relationship between KFLC-index and other MS biomarkers and to explore its prognostic role.

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Objective: Neurofilament light protein (NfL) and chitinase 3-like 1 (CHI3L1) are biomarkers for acute neuroaxonal damage and local inflammation, respectively. Thus, we set out to evaluate how these biomarkers were associated with clinical features of demyelinating diseases in parallel with the expression in brain autopsies from patients with similar disease stages, assuming their comparability.

Methods: NfL and CHI3L1 in CSF and serum CHI3L1 were assessed retrospectively in a cross-sectional cohort of controls (n = 17) and patients diagnosed with MS (n = 224), relapsing (n = 163) or progressive (n = 61); neuromyelitis optica (NMO, n = 7); and acute disseminated encephalomyelitis (ADEM, n = 15).

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Background: Recessive mutations in the SLC4A4 gene cause a syndrome characterised by proximal renal tubular acidosis (pRTA), mental retardation, dental and ocular abnormalities, and hemiplegic migraine. Rare cases involving the development of epilepsy or its severe complication-status epilepticus-have been described.

Methods: The clinical and genetic status of four affected members in a Spanish family was studied.

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