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Neonatal meconium aspiration syndrome associated with ABCA3 gene mutation and mycoplasma infection: a case report.
BMC Pediatr
January 2025
Department of Pediatrics II (Neonatology), Medical University of Innsbruck, Innsbruck, Austria.
Preterm infants are at high risk of developing respiratory distress syndrome (RDS). Mutations in the genes encoding for surfactant proteins B and C or the ATP-binding cassette transporter A3 (ABCA3) are rare but known to be associated with severe RDS and interstitial lung diseases. The exact prevalence of these mutations in the general population is difficult to determine, as they are usually studied in connection with clinical symptoms.
View Article and Find Full Text PDFNeuroplasticity in Diffuse Low-grade Gliomas: Backward Modelling of Brain-tumor Interactions Prior to Diagnosis is Needed to Better Predict Recovery after Treatment.
Curr Neurol Neurosci Rep
January 2025
Department of Neurosurgery, Gui de Chauliac Hospital, Montpellier University Medical Center, 80 Avenue Augustin Fliche, Montpellier, 34295, France.
Purpose Of Review: In low-grade glioma (LGG), besides the patient's neurological status and tumor characteristics on neuroimaging, current treatment guidelines mainly rely on the glioma's genetics at diagnosis to define therapeutic strategy, usually starting with surgical resection. However, this snapshot in time does not take into account the antecedent period of tumor progression and its interactions with the brain before presentation. This article reviews new concepts that pertain to reconstruct the history of previous interplay between the LGG's course and adaptive changes in the connectome within which the glioma is embedded over the years preceding the diagnosis.
View Article and Find Full Text PDFBackground: Visuospatial problems are one of the possible signs of Alzheimer's Disease (AD). Notably, various studies on eye movement in static image searches reveal that individuals with dementia fixate on fewer Areas of Interest (AoIs) for a significantly shorter duration than normal controls (CTLs). Building on prior works on speech and eye movement, in this study we examined word timestamps to infer each subject's focus of attention while describing the Cookie Theft picture.
View Article and Find Full Text PDFBackground: Mild cognitive impairment (MCI) is a clinical cognitive deficit that is not severe enough to meet the threshold for Alzheimer's Disease (AD); however, MCI patients have an increased risk of developing AD. Therefore, a diagnosis of MCI may represent a critical turning point in the trajectory of developing AD. Establishing neurological signatures of MCI using network control theory (NCT) may allow more informed diagnosis, and an understanding of its underlying mechanisms could pave the way for novel treatments.
View Article and Find Full Text PDFBiomarkers.
Alzheimers Dement
December 2024
Memory and Aging Center, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Background: Predicting Alzheimer's disease (AD) and frontotemporal dementia (FTD) using polygenic risk scores (PRS) for late-onset forms holds promise, but its accuracy might be influenced by social determinants of health (SDOH). This study explores how considering SDOH alongside genes can improve prediction, focusing on potential differences for each disease.
Methods: Employing logistic regression in 677 individuals (287 AD, 102 FTD, and 288 controls) aged 40-80 from the ReDLat study across six Latin American countries, we investigated the potential for SDOH to modify the association between PRS and susceptibility to AD and FTD.
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