MRI Evaluation of Global Developmental Delay: A Retrospective Study

Habibullah, Hafiz; Albaradie, Raidah; Bashir, Shahid

doi:10.1159/000506900

Cited by 10 publications

(13 citation statements)

References 16 publications

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“…ALOX5 also demonstrated a rapid increase in expression from the infancy stage till the end of adolescence in the cerebellar cortex, which controls the physical motors [ 83 ] ( Figure 5 b). Previous studies have shown that the abnormalities in the neocortex and cerebellar cortex could contribute to the phenotype and pathogenesis of developmental delay [ 84 , 85 , 86 , 87 ].…”

Section: Resultsmentioning

confidence: 99%

A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay

et al. 2022

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Mutations, especially those at the protein-protein interaction (PPI) interface, have been associated with various diseases. Meanwhile, though de novo mutations (DNMs) have been proven important in neuropsychiatric disorders, such as developmental delay (DD), the relationship between PPI interface DNMs and DD has not been well studied. Here we curated developmental delay DNM datasets from the PsyMuKB database and showed that DD patients showed a higher rate and deleteriousness in DNM missense on the PPI interface than sibling control. Next, we identified 302 DD-related PsychiPPIs, defined as PPIs harboring a statistically significant number of DNM missenses at their interface, and 42 DD candidate genes from PsychiPPI. We observed that PsychiPPIs preferentially affected the human protein interactome network hub proteins. When analyzing DD candidate genes using gene ontology and gene spatio-expression, we found that PsychiPPI genes carrying PPI interface mutations, such as FGFR3 and ALOX5, were enriched in development-related pathways and the development of the neocortex, and cerebellar cortex, suggesting their potential involvement in the etiology of DD. Our results demonstrated that DD patients carried an excess burden of PPI-truncating DNM, which could be used to efficiently search for disease-related genes and mutations in large-scale sequencing studies. In conclusion, our comprehensive study indicated the significant role of PPI interface DNMs in developmental delay pathogenicity.

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Section: Resultsmentioning

confidence: 99%

A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay

et al. 2022

View full text Add to dashboard Cite

show abstract

“…ALOX5 also demonstrated a rapid increase in expression from the infancy stage till the end of adolescence in the cerebellar cortex, which controls the physical motors [77] (Figure .5b). Previous studies have shown that the abnormalities in the neocortex and cerebellar cortex could contribute to the phenotype and pathogenesis of developmental delay [78][79][80][81].…”

Section: Identification Of New Potential Dd Genes and De Novo Mutationsmentioning

confidence: 99%

A Comprehensive Study of De Novo Mutations on Protein-protein Interaction Interface Provides New Insights in Developmental Delay

Maharjan¹,

Song²,

Liu³

et al. 2022

Preprint

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Mutations, especially those at the protein-protein interaction (PPI) interface, have been associated with various diseases. Meanwhile, though de novo mutations (DNMs) have been proven important in neuropsychiatric disorders, such as developmental delay (DD), the relationship between PPI interface DMNs and DD has not been well studied. Here we curated developmental delay DNM datasets from the PsyMuKB database and showed that DD patients showed a higher rate and deleteriousness in DNM missense on the PPI interface than sibling control. Next, we identified 302 DD-related PsychiPPIs, defined as PPI harboring a statistically significant number of DNM missenses at their interface, and 42 DD candidate genes from PsychiPPI. We then observed that PsychiPPIs preferentially affected hub proteins in the human protein interactome network. When analyzing DD candidate genes using gene ontology and gene spatio-expression, we found that PsychiPPI genes carrying PPI interface mutations, such as FGFR3 and ALOX5, were enriched in development-related pathways and the development of the neocortex, and cerebellar cortex, suggesting their potential involvement in the etiology of DD. Our results demonstrated that DD patients carried an excess burden of PPI-truncating DNM, which could be used to efficiently search for disease-related genes and mutations in large-scale sequencing studies. In conclusion, our comprehensive study indicated the significant role of PPI interface DNMs in developmental delay pathogenicity.

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“…The protocols used are Axial DWI, TSE T1W, TSE T2W, FLAIR, PD, T2TIRM, coronal T1TIR, and T2 TSE and sagittal T1 TSE. [51] For initial screening, these protocols can be used but should be modified according to the findings. For example, if there is hydrocephalus or leukodystrophy, then appropriate additional sequences should be added.…”

Section: Indicationsmentioning

confidence: 99%

Magnetic resonance imaging brain sequences in pediatrics

Kamble¹

2021

KPJ

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There are various pediatric magnetic resonance imaging (MRI) protocols followed in institutes and by individual radiologists, determined by the disease process and the indication for imaging, to narrow down the differential diagnosis. Most times, it is beneficial to modify protocols when the scans are being done, based on the findings seen on initially acquired sequences. This is particularly useful in pediatric patients considering most of them are scanned either under sedation or general anesthesia, and repeat scans will be cumbersome. In this particular review article, we are going to discuss appropriate MRI sequences in scanning pediatric brains and the need for rapid MRI sequences. This is of immense importance as MRI in pediatric patients poses challenges both to radiologists and technologists. Consequently, appropriate MRI protocols should be set to avoid repeat studies.

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MRI Evaluation of Global Developmental Delay: A Retrospective Study

Cited by 10 publications

References 16 publications

A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay

A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay

A Comprehensive Study of De Novo Mutations on Protein-protein Interaction Interface Provides New Insights in Developmental Delay

Magnetic resonance imaging brain sequences in pediatrics

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