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https://www.readbyqxmd.com/read/28549449/fatal-familial-insomnia-with-abnormal-signals-on-routine-mri-a-case-report-and-literature-review
#1
Tingting Lu, Yuhang Pan, Lisheng Peng, Feng Qin, Xiaobo Sun, Zhengqi Lu, Wei Qiu
BACKGROUND: Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation. Routine brain CT and MRI usually reveal non-specific features. We report a patient with FFI presenting with diffuse abnormal signals on MRI, later confirmed as combined with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CASE PRESENTATION: The patient was a 58-year-old female, whose main clinical manifestations were insomnia, movement disorders, autonomic hyperactivity and mental deterioration...
May 26, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28549057/both-antenatal-and-postnatal-inflammation-contribute-information-about-the-risk-of-brain-damage-in-extremely-preterm-newborns
#2
Diana Yanni, Steven Korzeniewski, Elizabeth N Allred, Raina N Fichorova, T Michael O'Shea, Karl Kuban, Olaf Dammann, Alan Leviton
BACKGROUNDPreterm newborns exposed to intrauterine inflammation are at increased risk of neurodevelopmental disorders. We hypothesized that adverse outcomes are more strongly associated with a combination of antenatal and postnatal inflammation than with either of them alone.METHODSWe defined antenatal inflammation as histologic inflammation in the placenta. We measured the concentrations of seven inflammation-related proteins in blood obtained on postnatal days 1, 7, and 14 from 763 infants born before 28 weeks of gestation...
May 26, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28548710/measurement-of-glycine-in-healthy-and-tumorous-brain-by-triple-refocusing-mrs-at-3%C3%A2-t-in-vivo
#3
Vivek Tiwari, Zhongxu An, Sandeep K Ganji, Jeannie Baxter, Toral R Patel, Edward Pan, Bruce E Mickey, Elizabeth A Maher, Marco C Pinho, Changho Choi
Glycine (Gly) has been implicated in several neurological disorders, including malignant brain tumors. The precise measurement of Gly is challenging largely as a result of the spectral overlap with myo-inositol (mI). We report a new triple-refocusing sequence for the reliable co-detection of Gly and mI at 3 T and for the evaluation of Gly in healthy and tumorous brain. The sequence parameters were optimized with density-matrix simulations and phantom validation. With a total TE of 134 ms, the sequence gave complete suppression of the mI signal between 3...
May 26, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28546311/evidence-for-functional-networks-within-the-human-brain-s-white-matter
#4
Michael Peer, Mor Nitzan, Atira S Bick, Netta Levin, Shahar Arzy
Investigation of the functional macro-scale organization of the human cortex is fundamental in modern neuroscience. While numerous studies have identified networks of interacting functional modules in the grey-matter, limited research was directed to the functional organization of the white-matter. Recent studies have demonstrated that the white-matter exhibits blood oxygen level dependent (BOLD) signal fluctuations similar to those of the grey-matter. Here we used these signal fluctuations to investigate whether the white-matter is organized as functional networks by applying a clustering analysis on resting-state functional MRI (RSfMRI) data from white-matter voxels, in 176 subjects (of both sexes)...
May 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28546087/region-specific-oligodendrocyte-transcription-factor-expression-in-a-model-of-neonatal-hypoxic-injury
#5
Bethann M Affeldt, Andre Obenaus, Jonathan Chan, Andrea C Pardo
White matter injury (WMI) of prematurity is associated with a spectrum of neurological disorders ranging from mild cognitive and behavioral deficits to cerebral palsy. Translational studies have implicated impaired oligodendrocyte development after hypoxia as the primary cause of WMI, but the underlying mechanisms remain poorly understood. The goal of this study was to identify alterations in the expression of oligodendrocyte precursor cell transcription factors in a mouse model of transient mild global hypoxia...
May 22, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/28543989/brain-structural-alterations-in-obese-children-with-and-without-prader-willi-syndrome
#6
Mingze Xu, Yi Zhang, Karen M von Deneen, Huaiqiu Zhu, Jia-Hong Gao
Prader-Willi syndrome (PWS) is a genetic imprinting disorder that is mainly characterized by hyperphagia and childhood obesity. Previous neuroimaging studies revealed that there is a significant difference in brain activation patterns between obese children with and without PWS. However, whether there are differences in the brain structure of obese children with and without PWS remains elusive. In the current study, we used T1-weighted and diffusion tensor magnetic resonance imaging to investigate alterations in the brain structure, such as the cortical volume and white matter integrity, in relation to this eating disorder in 12 children with PWS, 18 obese children without PWS (OB) and 18 healthy controls...
May 23, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28543843/white-matter-biomarkers-from-fast-protocols-using-axially-symmetric-diffusion-kurtosis-imaging
#7
Brian Hansen, Ahmad R Khan, Noam Shemesh, Torben E Lund, Ryan Sangill, Simon F Eskildsen, Leif Østergaard, Sune N Jespersen
White matter tract integrity (WMTI) can characterize brain microstructure in areas with highly aligned fiber bundles. Several WMTI biomarkers have now been validated against microscopy and provided promising results in studies of brain development and aging, as well as in a number of brain disorders. Currently, WMTI is mostly used in dedicated animal studies and clinical studies of slowly progressing diseases, and has not yet emerged as a routine clinical tool. To this end, a less data intensive experimental method would be beneficial by enabling high resolution validation studies, and ease clinical applications by speeding up data acquisition compared with typical diffusion kurtosis imaging (DKI) protocols utilized as part of WMTI imaging...
May 22, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28542277/first-report-of-a-japanese-family-with-spinocerebellar-ataxia-type-10-the-second-report-from-asia-after-a-report-from-china
#8
Hiroyuki Naito, Tetsuya Takahashi, Masaki Kamada, Hiroyuki Morino, Hiroyo Yoshino, Nobutaka Hattori, Hirofumi Maruyama, Hideshi Kawakami, Masayasu Matsumoto
Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found in the American continents, while no cases had been identified in Japan. Here, we report the first case of an SCA10 family from Japan. The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment...
2017: PloS One
https://www.readbyqxmd.com/read/28540600/microglial-interferon-signaling-and-white-matter
#9
Ashley McDonough, Richard V Lee, Jonathan R Weinstein
Microglia, the resident immune cells of the CNS, are primary regulators of the neuroimmune response to injury. Type I interferons (IFNs), including the IFNαs and IFNβ, are key cytokines in the innate immune system. Their activity is implicated in the regulation of microglial function both during development and in response to neuroinflammation, ischemia, and neurodegeneration. Data from numerous studies in multiple sclerosis (MS) and stroke suggest that type I IFNs can modulate the microglial phenotype, influence the overall neuroimmune milieu, regulate phagocytosis, and affect blood-brain barrier integrity...
May 25, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28536274/mapping-22q11-2-gene-dosage-effects-on-brain-morphometry
#10
Amy Lin, Christopher R K Ching, Ariana Vajdi, Daqiang Sun, Rachel K Jonas, Maria Jalbrzikowski, Leila Kushan-Wells, Laura Pacheco Hansen, Emma Krikorian, Boris Gutman, Deepika Dokoru, Gerhard Helleman, Paul M Thompson, Carrie E Bearden
Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q-del; 32 males), 21 with 22q11...
May 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28518477/acute-oligodendrocyte-loss-with-persistent-white-matter-injury-in-a-third-trimester-equivalent-mouse-model-of-fetal-alcohol-spectrum-disorder
#11
Jessie Newville, Carlos Fernando Valenzuela, Lu Li, Lauren L Jantzie, Lee Anna Cunningham
Alcohol exposure during central nervous system (CNS) development can lead to fetal alcohol spectrum disorder (FASD). Human imaging studies have revealed significant white matter (WM) abnormalities linked to cognitive impairment in children with FASD; however, the underlying mechanisms remain unknown. Here, we evaluated both the acute and long-term impacts of alcohol exposure on oligodendrocyte number and WM integrity in a third trimester-equivalent mouse model of FASD, in which mouse pups were exposed to alcohol during the first 2 weeks of postnatal development...
May 18, 2017: Glia
https://www.readbyqxmd.com/read/28517947/intolerance-of-uncertainty-predicts-increased-striatal-volume
#12
M Justin Kim, Jin Shin, James M Taylor, Alison M Mattek, Samantha J Chavez, Paul J Whalen
Oversensitivity to uncertain future threat is usefully conceptualized as intolerance of uncertainty (IU). Neuroimaging studies of IU to date have largely focused on its relationship with brain function, but few studies have documented the association between IU and the quantitative properties of brain structure. Here, we examined potential gray and white-matter brain structural correlates of IU from 61 healthy participants. Voxel-based morphometric analysis highlighted a robust positive correlation between IU and striatal volume, particularly the putamen...
May 18, 2017: Emotion
https://www.readbyqxmd.com/read/28516076/primary-central-nervous-system-vasculitis-mimicking-a-cortical-brain-tumor-a-case-report
#13
Joo-Seok Lee, Tae-Young Jung, Kyung-Hwa Lee, Seul-Kee Kim
We report a case of primary central nervous system vasculitis (PCNSV) mimicking a cortical brain tumor. A 25-year-old woman presented with a 2-week history of headache and transient right hemiparesis. Brain magnetic resonance imaging (MRI) revealed a cortical-involving lesion on the left frontal lobe. The 6-cm sized lesion showed low signal intensity on T1-weighted images and high signal intensity on T2-weighted images. The lesion had continual linear enhancement on the subcortical white matter and leptomeninges...
April 2017: Brain Tumor Research and Treatment
https://www.readbyqxmd.com/read/28512761/deconstructing-white-matter-connectivity-of-human-amygdala-nuclei-with-thalamus-and-cortex-subdivisions-in-vivo
#14
Aslan Abivardi, Dominik R Bach
Structural alterations in long-range amygdala connections are proposed to crucially underlie several neuropsychiatric disorders. While progress has been made in elucidating the function of these connections, our understanding of their structure in humans remains sparse and non-systematic. Harnessing diffusion-weighted imaging and probabilistic tractography in humans, we investigate connections between two main amygdala nucleus groups, thalamic nuclei, and cortex. We first parcellated amygdala into deep (basolateral) and superficial (centrocortical) nucleus groups, and thalamus into six subregions, using previously established protocols based on connectivity...
May 17, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28510708/aberrant-white-matter-microstructure-in-children-and-adolescents-with-the-subtype-of-prader-willi-syndrome-at-high-risk-for-psychosis
#15
Akvile Lukoshe, Gerbrich E van den Bosch, Aad van der Lugt, Steven A Kushner, Anita C Hokken-Koelega, Tonya White
Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder caused by loss of the paternal 15q11.2-q13 locus, due to deletion (DEL), maternal uniparental disomy (mUPD), or imprinting center defects. Individuals with mUPD have up to 60% risk of developing psychosis in early adulthood. Given the increasing evidence for white matter abnormalities in psychotic disorders, we investigated white matter microstructure in children and adolescents with PWS, with a particular emphasis on the DEL and mUPD subtypes. Magnetic resonance diffusion weighted images were acquired in 35 directions at 3T and analyzed using fractional anisotropy (FA), mean, axial, and radial diffusivity (MD, AD, RD) values obtained by tract-based spatial statistics (TBSS) in 28 children and adolescents with PWS and 61 controls...
May 16, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28506192/the-expanding-prominence-of-toxic-leukoencephalopathy
#16
Christopher M Filley, Brice V McConnell, C Alan Anderson
Toxic leukoencephalopathy (TL) is a disorder of brain white matter caused by exposure to leukotoxic agents. Magnetic resonance imaging (MRI) can readily identify this syndrome, and, together with diffusion tensor imaging, MRI continues to offer important insights into its nature. Since the first formal description of TL in 2001, many new leukotoxic disorders have been recognized, and the range of leukotoxins has expanded to include more therapeutic drugs, drugs of abuse, and environmental insults. While the understanding of pathophysiology remains incomplete, TL is increasingly common in clinical practice, and the potential long-term cognitive sequelae of toxic white matter injury merit attention...
May 16, 2017: Journal of Neuropsychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28503904/white-matter-compromise-in-autism-differentiating-motion-confounds-from-true-differences-in-diffusion-tensor-imaging
#17
Seraphina K Solders, Ruth A Carper, Ralph-Axel Müller
Common findings from diffusion tensor imaging (DTI) in autism spectrum disorder (ASD) include reduced fractional anisotropy (FA), and increased mean and radial diffusivity (MD, RD) of white matter tracts. However, findings may be confounded by head motion. We examined how group-level motion matching affects DTI comparisons between ASD and typically developing (TD) groups. We included 57 ASD and 50 TD participants, comparing three subsets at increasing levels of motion-matching stringency: full sample (FS); quality-controlled (QC); and quantitatively-matched (QM)...
May 15, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28503735/wdr45b-related-intellectual-disability-spastic-quadriplegia-epilepsy-and-cerebral-hypoplasia-a-consistent-neurodevelopmental-syndrome
#18
Jehan Suleiman, Diane Allingham-Hawkins, Mais Hashem, Hanan Shamseddin, Fowzan S Alkuraya, Ayman W El-Hattab
The advancement in genomic sequencing has greatly improved the diagnostic yield for neurodevelopmental disorders and led to the discovery of large number of novel genes associated with these disorders. WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of two large cohorts of affected individuals. In this report we present six individuals from three unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in one family and c.673C>T (p...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28503141/addiction-as-an-attachment-disorder-white-matter-impairment-is-linked-to-increased-negative-affective-states-in-poly-drug-use
#19
Human-Friedrich Unterrainer, Michaela Hiebler-Ragger, Karl Koschutnig, Jürgen Fuchshuber, Sebastian Tscheschner, Maria Url, Jolana Wagner-Skacel, Eva Z Reininghaus, Ilona Papousek, Elisabeth M Weiss, Andreas Fink
Substance use disorders (SUD) have been shown to be linked to various neuronal and behavioral impairments. In this study, we investigate whether there is a connection between the integrity of white matter (WM) and attachment styles as well as different affective states including spirituality in a group of patients diagnosed for poly-drug use disorder (PUD) in comparison to non-clinical controls. A total sample of 59 right-handed men, comprising the groups of patients with PUD (n = 19), recreational drug-using individuals (RUC; n = 20) as well as non-drug using controls were recruited (NUC; n = 20)...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28500983/night-sleep-influences-white-matter-microstructure-in-bipolar-depression
#20
Francesco Benedetti, Elisa M T Melloni, Sara Dallaspezia, Irene Bollettini, Clara Locatelli, Sara Poletti, Cristina Colombo
BACKGROUND: Alteration of circadian rhythms and sleep disruption are prominent trait-like features of bipolar disorder (BD). Diffusion tensor imaging (DTI) measures suggest a widespread alteration of white matter (WM) microstructure in patients with BD. Sleep promotes myelination and oligodendrocyte precursor cells proliferation. We hypothesized a possible association between DTI measures of WM microstructure and sleep quantity measures in BD. METHODS: We studied 69 inpatients affected by a depressive episode in course of type I BD...
May 8, 2017: Journal of Affective Disorders
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