Publications by authors named "J V Ortiz Castillo"

Background And Objectives: Invasive procedures may delay the diagnostic process in multiple sclerosis (MS). We investigated the added value of serum neurofilament light chain (sNfL), glial fibrillary acidic protein (sGFAP), chitinase-3-like 1 (sCHI3L1), and the immune responses to the Epstein-Barr virus-encoded nuclear antigen 1 to current MS diagnostic criteria.

Methods: In this multicentric study, we selected patients from 2 prospective cohorts presenting a clinically isolated syndrome (CIS).

View Article and Find Full Text PDF

Desmopressin (DDAVP) can be used to prevent or stop bleeding. However, large inter-individual variability is observed in DDAVP response and determinants are largely unknown. In this systematic review and meta-analysis we aim to identify the response to DDAVP, and the factors that determine DDAVP response in patients.

View Article and Find Full Text PDF

Mutations in Sonic Hedgehog (SHH) signaling pathway genes, for example, (SUFU), drive granule neuron precursors (GNP) to form medulloblastomas (MB). However, how different molecular lesions in the Shh pathway drive transformation is frequently unclear, and mutations in the cerebellum seem distinct. In this study, we show that fibroblast growth factor 5 (FGF5) signaling is integral for many infantile MB cases and that expression is uniquely upregulated in infantile MB tumors.

View Article and Find Full Text PDF

Objectives: To report the neurodevelopmental outcomes after a fetoscopic myelomeningocele (MMC) repair and to compare them with children who had an open-hysterotomy repair or a postnatal repair.

Study Design: 132 infants were included (prenatal repair: 93 [69 fetoscopic and 24 open-hysterotomy]; postnatal repair: 39). Neurodevelopmental outcomes at or beyond 18 months were evaluated by a developmental pediatrician using the Capute scales (Clinical Adaptive Test [CAT]/ Clinical Linguistic & Auditory Milestone Scale [CLAMS]) and/or during parental interview using Developmental Profile 3 (DP-3) test.

View Article and Find Full Text PDF

Global disparities in neurosurgical care necessitate innovations addressing affordability and accuracy, particularly for critical procedures like ventriculostomy. This intervention, vital for managing life-threatening intracranial pressure increases, is associated with catheter misplacement rates exceeding 30% when using a freehand technique. Such misplacements hold severe consequences including haemorrhage, infection, prolonged hospital stays, and even morbidity and mortality.

View Article and Find Full Text PDF