Emerging Insights and New Perspectives on the Nature of Hydrocephalus

Tomycz, Luke; Hale, Andrew T.; George, Timothy M.

doi:10.1159/000484173

Cited by 20 publications

(11 citation statements)

References 27 publications

(38 reference statements)

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“…The diagnosis of HYC not only involves a certain expansion of the ventricle, but also must be differentiated from other diseases, including Alzheimer disease and brain atrophy. [ 13 , 14 ] The Evan index was mainly used to diagnose HYC due to the small sample size, thus the specificity of the model might increase with growing sample size. As the number of feature variables increases, this transfer learning model is expected to be able to diagnose diseases including Alzheimer disease and brain atrophy.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of an artificial intelligent hydrocephalus diagnosis model based on transfer learning

Duan

Zhang

Zhang³

et al. 2020

Medicine

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To design and develop artificial intelligence (AI) hydrocephalus (HYC) imaging diagnostic model using a transfer learning algorithm and evaluate its application in the diagnosis of HYC by non-contrast material-enhanced head computed tomographic (CT) images. A training and validation dataset of non-contrast material-enhanced head CT examinations that comprised of 1000 patients with HYC and 1000 normal people with no HYC accumulating to 28,500 images. Images were pre-processed, and the feature variables were labeled. The feature variables were extracted by the neural network for transfer learning. AI algorithm performance was tested on a separate dataset containing 250 examinations of HYC and 250 of normal. Resident, attending and consultant in the department of radiology were also tested with the test sets, their results were compared with the AI model. Final model performance for HYC showed 93.6% sensitivity (95% confidence interval: 77%, 97%) and 94.4% specificity (95% confidence interval: 79%, 98%), with area under the characteristic curve of 0.93. Accuracy rate of model, resident, attending, and consultant were 94.0%, 93.4%, 95.6%, and 97.0%. AI can effectively identify the characteristics of HYC from CT images of the brain and automatically analyze the images. In the future, AI can provide auxiliary diagnosis of image results and reduce the burden on junior doctors.

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Section: Discussionmentioning

confidence: 99%

Evaluation of an artificial intelligent hydrocephalus diagnosis model based on transfer learning

Duan

Zhang

Zhang³

et al. 2020

Medicine

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“…Small increases in volume will result in large increases in intracranial pressure. More important for development of ventriculomegaly is reduced brain compliance and consequently reduce brain pulsatility [14]. Neuroparenchymal compliance and pulsatility are further altered by the developing ventriculomegaly.…”

Section: Effect Of Brachycephaly On Brain Conformation Compliance Amentioning

confidence: 99%

“…Neuroparenchymal compliance and pulsatility are further altered by the developing ventriculomegaly. This alteration in pulsatility may reflect the location of a waveform, as well as timing of propagation and morphology, for example, the hyperdynamic flow and increased pulsatility within the ventricles relative to the subarachnoid space [14].…”

Section: Effect Of Brachycephaly On Brain Conformation Compliance Amentioning

confidence: 99%

The Need for Head Space: Brachycephaly and Cerebrospinal Fluid Disorders

Rusbridge

Knowler

2021

Life

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Brachycephalic dogs remain popular, despite the knowledge that this head conformation is associated with health problems, including airway compromise, ocular disorders, neurological disease, and other co-morbidities. There is increasing evidence that brachycephaly disrupts cerebrospinal fluid movement and absorption, predisposing ventriculomegaly, hydrocephalus, quadrigeminal cistern expansion, Chiari-like malformation, and syringomyelia. In this review, we focus on cerebrospinal fluid physiology and how this is impacted by brachycephaly, airorhynchy, and associated craniosynostosis.

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“…Hydrocephalus is a heterogeneous disease resulting from abnormal accumulation of cerebrospinal fluid (CSF) and subsequent elevations in intracranial pressure resulting in impaired neurodevelopment and morbidity ( Kahle et al, 2016 ; Tomycz et al, 2017 ). Hydrocephalus affects nearly 1 in 1,000 babies born in the United States ( Simon et al, 2008 ), yet the genetic basis of the disease is largely unknown ( Kousi and Katsanis, 2016 ).…”

Section: Introductionmentioning

confidence: 99%

Multi-omic analysis elucidates the genetic basis of hydrocephalus

et al. 2021

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SUMMARY We conducted PrediXcan analysis of hydrocephalus risk in ten neurological tissues and whole blood. Decreased expression of MAEL in the brain was significantly associated (Bonferroni-adjusted p < 0.05) with hydrocephalus. PrediXcan analysis of brain imaging and genomics data in the independent UK Biobank (N = 8,428) revealed that MAEL expression in the frontal cortex is associated with white matter and total brain volumes. Among the top differentially expressed genes in brain, we observed a significant enrichment for gene-level associations with these structural phenotypes, suggesting an effect on disease risk through regulation of brain structure and integrity. We found additional support for these genes through analysis of the choroid plexus transcriptome of a murine model of hydrocephalus. Finally, differential protein expression analysis in patient cerebrospinal fluid recapitulated disease-associated expression changes in neurological tissues, but not in whole blood. Our findings provide convergent evidence highlighting the importance of tissue-specific pathways and mechanisms in the pathophysiology of hydrocephalus.

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Emerging Insights and New Perspectives on the Nature of Hydrocephalus

Cited by 20 publications

References 27 publications

Evaluation of an artificial intelligent hydrocephalus diagnosis model based on transfer learning

Evaluation of an artificial intelligent hydrocephalus diagnosis model based on transfer learning

The Need for Head Space: Brachycephaly and Cerebrospinal Fluid Disorders

Multi-omic analysis elucidates the genetic basis of hydrocephalus

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