X-linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus.
Sign Up to like & getrecommendations! Published in 2023 at "Prenatal diagnosis"
DOI: 10.1002/pd.6349
Abstract: We report a case of pyruvate dehydrogenase E1 alpha subunit deficiency associated with a novel hemizygous PDHA1 variant presenting prenatally as multiple structural brain abnormalities in a male fetus. A healthy Finnish couple was initially… read more here.
Keywords: structural brain; pyruvate dehydrogenase; pdha1 variant; brain abnormalities ... See more keywords
Computer-aided diagnosis for fetal brain ultrasound images using deep convolutional neural networks
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Computer Assisted Radiology and Surgery"
DOI: 10.1007/s11548-020-02182-3
Abstract: Purpose Fetal brain abnormalities are some of the most common congenital malformations that may associated with syndromic and chromosomal malformations, and could lead to neurodevelopmental delay and mental retardation. Early prenatal detection of brain abnormalities… read more here.
Keywords: fetal brain; diagnosis; brain abnormalities; ultrasound images ... See more keywords
Brain abnormalities in COVID-19 acute/subacute phase: A rapid systematic review
Sign Up to like & getrecommendations! Published in 2020 at "Brain, Behavior, and Immunity"
DOI: 10.1016/j.bbi.2020.07.014
Abstract: Abstract Objective This systematic review aimed to synthesize early data on typology and topography of brain abnormalities in adults with COVID-19 in acute/subacute phase. Methods We performed systematic literature search via PubMed, Google Scholar and… read more here.
Keywords: acute subacute; brain abnormalities; systematic review; brain ... See more keywords
Neurocognitive impairments and brain abnormalities resulting from opioid-related overdoses: A systematic review.
Sign Up to like & getrecommendations! Published in 2021 at "Drug and alcohol dependence"
DOI: 10.1016/j.drugalcdep.2021.108838
Abstract: BACKGROUND Non-fatal opioid-related overdoses have increased significantly over the past two decades and there have been increasing reports of brain injuries and/or neurocognitive impairments following overdose events. Limited preclinical research suggests that opioid overdoses may… read more here.
Keywords: brain abnormalities; opioid related; neurocognitive impairments; review ... See more keywords
Detection of Brain Abnormalities in Parkinson’s Rats by Combining Deep Learning and Motion Tracking
Sign Up to like & getrecommendations! Published in 2023 at "IEEE Transactions on Neural Systems and Rehabilitation Engineering"
DOI: 10.1109/tnsre.2023.3237916
Abstract: Parkinson’s disease (PD) is a chronic neurodegenerative disease that affects the central nervous system. PD mainly affects the motor nervous system and may cause cognitive and behavioral problems. One of the best tools to investigate… read more here.
Keywords: brain abnormalities; detection brain; deep learning; motion ... See more keywords
Functional and structural brain abnormalities in substance use disorder: A multimodal meta‐analysis of neuroimaging studies
Sign Up to like & getrecommendations! Published in 2023 at "Acta Psychiatrica Scandinavica"
DOI: 10.1111/acps.13539
Abstract: Numerous neuroimaging studies of resting‐state functional imaging and voxel‐based morphometry (VBM) have revealed that patients with substance use disorder (SUD) may present brain abnormalities, but their results were inconsistent. This multimodal neuroimaging meta‐analysis aimed to… read more here.
Keywords: neuroimaging studies; meta analysis; brain abnormalities; use disorder ... See more keywords
Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13056
Abstract: There is a broad phenotypic spectrum of patients with 17p13.3 deletions. One of the most prominent feature is lissencephaly caused by haploinsufficiency of the gene PAFAH1B1. The deletion of this gene and those distal to… read more here.
Keywords: ywhae gene; gene; learning disabilities; brain abnormalities ... See more keywords
MRI for Fetal Developmental Brain Abnormalities: Perspectives From the Pregnant Patient
Sign Up to like & getrecommendations! Published in 2018 at "Qualitative Health Research"
DOI: 10.1177/1049732318764390
Abstract: Ultrasound is routinely used as a prenatal screening and diagnostic tool but has limitations. Some anomalies in the developing fetal brain can be difficult to detect, and in utero magnetic resonance imaging (iuMRI) is increasingly… read more here.
Keywords: brain abnormalities; developmental brain; fetal developmental; mri fetal ... See more keywords
Advances in imaging of brain abnormalities in neuromuscular disease
Sign Up to like & getrecommendations! Published in 2019 at "Therapeutic Advances in Neurological Disorders"
DOI: 10.1177/1756286419845567
Abstract: Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases by consulting… read more here.
Keywords: brain abnormalities; dystrophy; imaging brain; advances imaging ... See more keywords
Brain Abnormalities and Epilepsy in Patients with Parry-Romberg Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Neuroradiology"
DOI: 10.3174/ajnr.a7517
Abstract: Ipsilateral MR imaging brain abnormalities are common in patients with Parry-Romberg syndrome, with a higher frequency and greater severity in those with epilepsy. The most common findings in both groups are white matter disease and… read more here.
Keywords: parry romberg; romberg syndrome; brain; atrophy ... See more keywords
The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00058
Abstract: Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported… read more here.
Keywords: phenotype; copy number; 1q43 q44; brain abnormalities ... See more keywords