Editorial Mitochondria, brain, heart and body

Wen, Ya

doi:10.21926/obm.neurobiol.1704007

Cited by 4 publications

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Huntington’s disease: novel therapeutic perspectives hanging in the balance

Saavedra

Barriga

Pérez‐Navarro

et al. 2018

Expert Opinion on Therapeutic Targets

View full text Add to dashboard Cite

Huntington's disease (HD), an autosomal dominant neurodegenerative disorder caused by an expansion of CAG repeats in the huntingtin gene, has long been characterized by the presence of motor symptoms due to the loss of striatal projection neurons. Cognitive dysfunction and neuropsychiatric symptoms are also present and they occur in the absence of cell death in most mouse models, pointing to neuronal dysfunction and abnormal synaptic plasticity as causative mechanisms. Areas covered: Here, we focus on those common mechanisms altered by the presence of mutant huntingtin affecting corticostriatal and hippocampal function as therapeutic targets that could prove beneficial to ameliorate both cognitive and motor function in HD. Specifically, we discuss the importance of reestablishing the balance in (1) synaptic/extrasynaptic N-methyl-D-aspartate receptor signaling, (2) mitochondrial dynamics/trafficking, (3) TrkB/p75 signaling, and (4) transcriptional activity. Expert opinion: Mutant huntingtin has a broad impact on multiple cellular processes, which makes it very challenging to design a curative therapeutic strategy. As we point out here, novel therapeutic interventions should look for multi-purpose drugs targeting common and early affected processes leading to corticostriatal and hippocampal dysfunction that additionally operate in a feedforward vicious cycle downstream the activation of extrasynaptic N-methyl-D-aspartate receptor.

show abstract

Huntington’s disease: novel therapeutic perspectives hanging in the balance

Saavedra

Barriga

Pérez‐Navarro

et al. 2018

Expert Opinion on Therapeutic Targets

View full text Add to dashboard Cite

show abstract

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

et al. 2018

View full text Add to dashboard Cite

BackgroundAutosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced head circumference at birth with no remarkable anomalies of brain architecture and variable degrees of intellectual impairment. Clinical and genetic heterogeneity in genetic disorders represent a major diagnostic challenge.Case presentationTwo patients, 11 and 9 years old, born from consanguineous parents, were referred to the department of medical genetics at the National Institute of Health in Rabat. The diagnosis of MCPH was made, based on reduced head circumference without brain architecture abnormalities. The two patients were subject to the whole-exome sequencing, which allowed to diagnose a novel homozygous mutation c.1027C > T; p.Gln343* in exon 8 of WDR62, a gene already known to be related to MCPH. Sanger sequencing confirmed the segregation of the mutation in the family.ConclusionOur data expends the spectrum of mutations in WDR62 gene, proves the efficiency and cost-effectiveness of whole exome sequencing for the molecular diagnosis of genetically heterogeneous disorders such MCPH. Exome sequencing led to the rapid and cost-effective identification of a novel homozygous mutation in WDR62 gene, thereby facilitating genetic counseling.

show abstract

Exploring Computational Techniques in Preprocessing Neonatal Physiological Signals for Detecting Adverse Outcomes: Scoping Review

Rahman,

Brankovic,

Tracy

et al. 2024

Interact J Med Res

View full text Add to dashboard Cite

Background: Computational signal pre-processing is a prerequisite for developing data-driven predictive models for clinical decision support. Thus, identifying the best practices that adhere to clinical principles is critical to ensure transparency and reproducibility which will drive clinical adoption.Objective: This review focuses on the Neonatal intensive care unit (NICU) setting and summarises the state-of-the-art computational methods used for pre-processing neonatal clinical physiological signals for the development of machine learning models in predicting the risk of adverse outcomes.Methods: Five databases (Pubmed, Web of Science, Scopus, IEEE, ACM Digital Library) were searched using a combination of keywords and MeSH terms. 3,585 papers from the year 2013 to January 2023 were identified based on the defined search terms and inclusion criteria. After removing duplicates, 2,994 papers were screened by title and abstract, and 81 were selected for fulltext review. Of these, 52 were eligible for inclusion in the detailed analysis. Results:The papers included in the review were heterogeneous in design and the selection of adverse outcomes modelled. We found a partial or complete lack of transparency in reporting the setting and the methods used for signal pre-processing. This includes reporting methods to handle missing data, segment size for considered analysis, and details regarding the modification of the state-of-the-art methods for physiological signal processing to align with the clinical principles for neonates. Conclusions:The review found heterogeneity in techniques and inconsistent reporting of parameters and procedures used for preprocessing neonatal physiological signals, which is necessary to confirm their adherence to clinical practices, usefulness and choice of the best practices. Improving this aspect will ensure transparent reporting and hence facilitate the interpretation and reproducibility of the studies as well as accelerate their clinical adoption. Clinical

show abstract

Editorial Mitochondria, brain, heart and body

Cited by 4 publications

References 17 publications

Huntington’s disease: novel therapeutic perspectives hanging in the balance

Huntington’s disease: novel therapeutic perspectives hanging in the balance

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

Exploring Computational Techniques in Preprocessing Neonatal Physiological Signals for Detecting Adverse Outcomes: Scoping Review

Contact Info

Product

Resources

About