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Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome
(2021)
Teuntje A. D. Pelgrim
;
Matthijs G. Bossong
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Analía Cuiza
;
Luz María Alliende
;
Carlos Mena
<jats:title>Abstract</jats:title><jats:p>The 22q11 deletion syndrome is a genetic disorder associated with a high risk of developing psychosis, and is therefore considered a neurodevelopmental model for studying the pathogenesis of schizophrenia. Studies have shown that localized abnormal functional brain connectivity is present in 22q11 deletion syndrome like in schizophrenia. However, it is less clear whether these abnormal cortical interactions lead to global or regional network disorganization as seen in schizophrenia. We analyzed from a graph-theory perspective fMRI data from 40 22q11 deletion syndrome patients and 67 healthy controls, and reconstructed functional networks from 105 brain regions. Between-group differences were examined by evaluating edge-wise strength and graph theoretical metrics of local (weighted degree, nodal efficiency, nodal local efficiency) and global topological properties (modularity, local and global efficiency). Connectivity strength was globally reduced in patients, driven by a large network comprising 147 reduced connections. The 22q11 deletion syndrome network presented with abnormal local topological properties, with decreased local efficiency and reductions in weighted degree particularly in hub nodes. We found evidence for abnormal integration but intact segregation of the 22q11 deletion syndrome network. Results suggest that 22q11 deletion syndrome patients present with similar aberrant local network organization as seen in schizophrenia, and this network configuration might represent a vulnerability factor to psychosis.</jats:p>
1Scopus© Citations 2
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Inflammatory markers and BDNF in obstructive sleep apnea (OSA) in Parkinson's disease (PD)
(2022)
M. Kaminska
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M. O'Sullivan
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V.P. Mery
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A.L. Lafontaine
;
A. Robinson
10Scopus© Citations 20
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Neuronal Rubicon Represses Extracellular APP/Amyloid β Deposition in Alzheimer’s Disease
(2022)
Sandra Espinoza
;
Felipe Grunenwald
;
Wileidy Gomez
;
Felipe García
;
Lorena Abarzúa-Catalan
<jats:p>Alzheimer’s disease (AD) is the most prevalent age-associated neurodegenerative disease. A decrease in autophagy during aging contributes to brain disorders by accumulating potentially toxic substrates in neurons. Rubicon is a well-established inhibitor of autophagy in all cells. However, Rubicon participates in different pathways depending on cell type, and little information is currently available on neuronal Rubicon’s role in the AD context. Here, we investigated the cell-specific expression of Rubicon in postmortem brain samples from AD patients and 5xFAD mice and its impact on amyloid β burden in vivo and neuroblastoma cells. Further, we assessed Rubicon levels in human-induced pluripotent stem cells (hiPSCs), derived from early-to-moderate AD and in postmortem samples from severe AD patients. We found increased Rubicon levels in AD-hiPSCs and postmortem samples and a notable Rubicon localization in neurons. In AD transgenic mice lacking Rubicon, we observed intensified amyloid β burden in the hippocampus and decreased Pacer and p62 levels. In APP-expressing neuroblastoma cells, increased APP/amyloid β secretion in the medium was found when Rubicon was absent, which was not observed in cells depleted of Atg5, essential for autophagy, or Rab27a, required for exosome secretion. Our results propose an uncharacterized role of Rubicon on APP/amyloid β homeostasis, in which neuronal Rubicon is a repressor of APP/amyloid β secretion, defining a new way to target AD and other similar diseases therapeutically.</jats:p>
5Scopus© Citations 4
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Screening of COVID-19 cases through a Bayesian network symptoms model and psychophysical olfactory test
(2021)
Susana Eyheramendy
;
Pedro A. Saa
;
Eduardo A. Undurraga
;
Carlos Valencia
;
Carolina López
20Scopus© Citations 2
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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
(2018)
Ivan K. Chinn
;
Olive S. Eckstein
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Erin C. Peckham-Gregory
;
Baruch R. Goldberg
;
Lisa R. Forbes
<jats:title>Key Points</jats:title> <jats:p>Whole-exome sequencing may identify specific therapeutic opportunities for patients with HLH. HLH should be conceptualized as a critical illness phenotype driven by toxic activation of immune cells from different underlying mechanisms.</jats:p>
1Scopus© Citations 181

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