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"Brain Abnormalities."
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The human brain book
\"This award-winning science book uses the latest findings from neuroscience research and brain-imaging technology to take you on a journey into the human brain.\"-- Publisher's description.
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Long-term outcomes of children with symptomatic congenital cytomegalovirus disease
Objective:
To assess long-term outcomes of children with symptomatic congenital cytomegalovirus (CMV) disease detected at birth.
Study Design:
We used Cox regression to assess risk factors for intellectual disability (intelligence quotient <70), sensorineural hearing loss (SNHL; hearing level ⩾25 dB in any audiometric frequency) and vision impairment (best corrected visual acuity >20 or based on ophthalmologist report).
Results:
Among 76 case-patients followed through median age of 13 (range: 0–27) years, 56 (74%) had SNHL, 31 (43%,
n
=72) had intellectual disability and 18 (27%,
n
=66) had vision impairment; 28 (43%,
n
=65) had intellectual disability and SNHL with/without vision impairment. Microcephaly was significantly associated with each of the three outcomes. Tissue destruction and dysplastic growth on head computed tomography scan at birth was significantly associated with intellectual disability and SNHL.
Conclusion:
Infants with symptomatic congenital CMV disease may develop moderate to severe impairments that were associated with presence of microcephaly and brain abnormalities.
Journal Article
Innate : how the wiring of our brains shapes who we are
\"What makes you the way you are--and what makes each of us different from everyone else? In Innate, leading neuroscientist and popular science blogger Kevin Mitchell traces human diversity and individual differences to their deepest level: in the wiring of our brains. Deftly guiding us through important new research, including his own work, he explains how variations in the way our brains develop before birth strongly influence our psychology and behavior throughout our lives, shaping our personality, intelligence, sexuality, and even the way we perceive the world. We all share a genetic program for making a human brain, and the program for making a brain like yours is specifically encoded in your DNA. But, as Mitchell explains, the way that program plays out is affected by random processes of development that manifest uniquely in each person, even identical twins. The key insight of Innate is that the combination of these developmental and genetic variations creates innate differences in how our brains are wired--differences that impact all aspects of our psychology--and this insight promises to transform the way we see the interplay of nature and nurture. Innate also explores the genetic and neural underpinnings of disorders such as autism, schizophrenia, and epilepsy, and how our understanding of these conditions is being revolutionized. In addition, the book examines the social and ethical implications of these ideas and of new technologies that may soon offer the means to predict or manipulate human traits are\"-- Provided by the publisher.
Book
The prevalence of brain abnormalities in boys with central precocious puberty may be overestimated
Brain magnetic resonance imaging (MRI) is routinely performed to identify brain lesions in boys with central precocious puberty (CPP). We investigated the prevalence of CPP in Korean boys and the necessity for routine brain MRI examinations. This retrospective cross-sectional study was conducted from April 2003 to December 2016 at a Korean university hospital. Among 151 boys who were diagnosed with CPP, the data of 138 boys who underwent sellar MRI were evaluated. The mean age of the study subjects was 9.51 ± 0.56 years (<8 years [n = 4] and ≥8 years [n = 134]). We excluded patients who had been previously diagnosed with brain tumors and those who did not undergo a sellar MRI because of refusal or the decision of the pediatric endocrinologist. The main outcome measure was the prevalence of intracranial lesions among boys with CPP. Normal sellar MRI findings were observed in 128 of the 138 boys (93%). Mild brain abnormalities were found in 10 boys (7%), while none of the patients had pathological brain lesions. The prevalence (7%) of intracranial lesions among boys who were healthy, did not have neurological symptoms, and were diagnosed with CPP was different from that previously reported. None of the identified lesions necessitated treatment. Although this was a single country study, we found that the previously reported prevalence of brain lesions in boys with CPP is much higher than the prevalence observed in Korea. This study suggests the need to globally reevaluate the prevalence of pathological brain lesions among male pediatric patients with CPP.
Journal Article
Brain gray and white matter abnormalities in preterm-born adolescents: A meta-analysis of voxel-based morphometry studies
Studies using voxel-based morphometry report variable and inconsistent abnormalities of gray matter volume (GMV) and white matter volume (WMV) in brains of preterm-born adolescents (PBA). In such circumstances a meta-analysis can help identify the most prominent and consistent abnormalities.
We identified 9 eligible studies by systematic search of the literature up to October 2017. We used Seed-based d Mapping to analyze GMV and WMV alterations between PBA and healthy controls.
In the GMV meta-analysis, PBA compared to healthy controls showed: increased GMV in left cuneus cortex, left superior frontal gyrus, and right anterior cingulate cortex; decreased GMV in bilateral inferior temporal gyrus (ITG), left superior frontal gyrus, and right caudate nucleus. In the WMV meta-analysis, PBA showed: increased WMV in right fusiform gyrus and precuneus; decreased WMV in bilateral ITG, and right inferior frontal gyrus. In meta-regression analysis, the percentage of male PBA negatively correlated with decreased GMV of bilateral ITG.
PBA show widespread GMV and WMV alterations in the default mode network, visual recognition network, and salience network. These changes may be causally relevant to socialization difficulties and cognitive impairments. The meta-regression results perhaps reveal the structural underpinning of the cognition-related sex differences in PBA.
Journal Article
An integrated in utero MR method for assessing structural brain abnormalities and measuring intracranial volumes in fetuses with congenital heart disease: results of a prospective case-control feasibility study
Purpose
To refine methods that assess structural brain abnormalities and calculate intracranial volumes in fetuses with congenital heart diseases (CHD) using in utero MR (iuMR) imaging. Our secondary objective was to assess the prevalence of brain abnormalities in this high-risk cohort and compare the brain volumes with normative values.
Methods
We performed iuMR on 16 pregnant women carrying a fetus with CHD and gestational age ≥ 28-week gestation and no brain abnormality on ultrasonography. All cases had fetal echocardiography by a pediatric cardiologist. Structural brain abnormalities on iuMR were recorded. Intracranial volumes were made from 3D FIESTA acquisitions following manual segmentation and the use of 3D Slicer software and were compared with normal fetuses.
Z
scores were calculated, and regression analyses were performed to look for differences between the normal and CHD fetuses.
Results
Successful 2D and 3D volume imaging was obtained in all 16 cases within a 30-min scan. Despite normal ultrasonography, 5/16 fetuses (31%) had structural brain abnormalities detected by iuMR (3 with ventriculomegaly, 2 with vermian hypoplasia). Brain volume, extra-axial volume, and total intracranial volume were statistically significantly reduced, while ventricular volumes were increased in the CHD cohort.
Conclusion
We have shown that it is possible to perform detailed 2D and 3D studies using iuMR that allow thorough investigation of all intracranial compartments in fetuses with CHD in a clinically appropriate scan time. Those fetuses have a high risk of structural brain abnormalities and smaller brain volumes even when brain ultrasonography is normal.
Journal Article
Psychopathology of antisocial personality disorder: from the structural, functional and biochemical perspectives
BackgroundAntisocial personality disorder (ASPD) is characterized by a lack of empathy, a sense of guiltlessness and shamelessness, as well as impulsiveness. ASPD is a relatively common psychiatric condition in the general population, whereas individuals with ASPD often have substantial social impairments and a lower quality of life, especially for those who have mental comorbidities. This review gives an overview of the etiological and clinical aspects of ASPD and critically examines ASPD from the structural, functional and biochemical perspectives.ResultsTwin and family studies showed genetic predisposition in ASPD. Some candidate genes associated with ASPD include SLC6A4, COMT, 5-HTR2A, TPH1, DRD2, OXTR, CACNG8, COL25A1 and several serotonergic genes. Environmental factors like adverse childhood experience (ACE) and active empathy deficits in toddlerhood play a role in the etiology of ASPD, whereas low intelligence or attainment, a large family size, a convicted parent, a disrupted family, and a young mother are predictors of antisocial personality. Structural abnormalities involving the corpus callosum, amygdala, putamen, anterior cingulate cortex, as well as orbitofrontal- and dorsolateral frontal cortices have been identified in ASPD. Other observed structural changes include a decrease in grey matter volume, whole-brain volume, and white matter volume and thickness. In addition, functional abnormalities involving autonomic activity, prefrontal functions, as well as brain functional networks like sensorimotor networks, cognitive networks and cortico-striatal connectivity have been reported. Biochemical factors associated with ASPD include fatty acid amide hydrolase (FAAH) reduction in the amygdala, as well as changes in plasma levels of inflammatory biomarkers and neurotropic factors [namely, tumor necrosis factor (TNF)-α, interleukin 10 (IL-10), transforming growth factor (TGF)-β1 and brain-derived neurotrophic factor (BNDF). Increased plasma levels of testosterone, ghrelin and cortisol and decreased levels of leptin have also been implicated in ASPD.ConclusionsTo date, there is no Food and Drug Administration (FDA) approved drugs for ASPD. Understanding the disease from different perspectives is important, as this provides insights into the underlying mechanisms of ASPD, whereas the associated biochemical markers can be used as potential diagnostic and treatment targets for ASPD.
Journal Article
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles
1
,
2
,
3
,
4
,
5
,
6
,
7
,
8
,
9
. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' movements, and cognitive and behavioral disturbances
5
,
6
,
7
,
8
,
10
,
11
,
12
. Here we identified a locus associated with Joubert syndrome, JBTS3, on chromosome 6q23.2–q23.3 and found three deleterious mutations in
AHI1
, the first gene to be associated with Joubert syndrome.
AHI1
is most highly expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Comparative genetic analysis of
AHI1
indicates that it has undergone positive evolutionary selection along the human lineage. Therefore, changes in
AHI1
may have been important in the evolution of human-specific motor behaviors.
Journal Article
The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report
Background
WNT1
mutations cause bone fragility as well as brain anomalies. There are some reported cases of
WNT1
mutations with normal cognition. Genotype and phenotype correlation of
WNT1
mutations has not been established.
Case presentation
Here we present two female siblings with osteogenesis imperfecta (OI) born to a consanguineous couple. Both sustained severe bone deformities. However, only the younger had severe brain anomalies resulting in an early death from pneumonia, while the older had normal intellectual development. Next generation sequencing showed a homozygous mutation, c.6delG, p.Leu3Serfs*36 in
WNT1
. To our knowledge, it is the most 5′ truncating mutation to date
.
Conclusion
This report emphasizes the intrafamilial variability of brain anomalies found in this OI type and suggests that WNT1 may not be necessary for normal human cognitive development.
Journal Article
Zika Virus Infection with Prolonged Maternal Viremia and Fetal Brain Abnormalities
Brief Report: Zika Virus Infection and Fetal Brain Abnormalities
In this case report, the association between Zika virus infection and teratogenicity is strengthened, with evidence that the latency period between ZIKV infection of the fetal brain and the detection of microcephaly and intracranial calcifications on ultrasonography may be prolonged.
Zika virus (ZIKV), a mosquito-borne flavivirus and member of the Flaviviridae family, was originally isolated from a sentinel primate in Uganda in 1947.
1
ZIKV was associated with mild febrile disease and maculopapular rash in tropical Africa and some areas of Southeast Asia. Since 2007, ZIKV has caused several outbreaks outside its former distribution area in islands of the Pacific: in 2007 on Yap island in Micronesia, in 2013 and 2014 in French Polynesia, and in 2015 in South America, where ZIKV had not been identified previously.
2
–
5
There are separate African and Asian lineages of the virus,
6
and the latter . . .
Journal Article