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https://www.readbyqxmd.com/read/28918207/the-association-between-cardiac-physiology-acquired-brain-injury-and-postnatal-brain-growth-in-critical-congenital-heart-disease
#1
Shabnam Peyvandi, Hosung Kim, Joanne Lau, A James Barkovich, Andrew Campbell, Steven Miller, Duan Xu, Patrick McQuillen
OBJECTIVE: To assess the trajectory of perioperative brain growth in relationship to cardiac diagnosis and acquired brain injuries. METHODS: This was a cohort study of term neonates with hypoplastic left heart syndrome (HLHS) and transposition of the great arteries (TGA). Subjects underwent magnetic resonance imaging of the brain pre- and postoperatively to determine the severity of brain injury and total and regional brain volumes by the use of automated morphometry...
August 24, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28917708/type-2-diabetes-mellitus-balb-c-mice-are-more-susceptible-to-granulomatous-amoebic-encephalitis-immunohistochemical-study
#2
Maritza Omaña-Molina, Raquel Sanchez-Rocha, Dolores Hernandez-Martinez, Miriam Romero Grijalva, Citlaltepetl Salinas-Lara, Miriam Rodriguez-Sosa, Imelda Juarez-Avelar, Lizbeth Salazar-Villatoro, Arturo Gonzalez-Robles, Adolfo Rene Mendez-Cruz, Patricia Aley-Medina, Jesus Espinosa-Villanueva, Ismael Castelan-Ramirez, Jacob Lorenzo-Morales
Granulomatous amoebic encephalitis (GAE) is a chronic, difficult to resolve infection caused by amphizoic amoebae of the genus Acanthamoeba, which in most cases occurs in immunosuppressed persons or with chronic diseases such as diabetes. In this study, we describe the early events of A. culbertsoni infection of GAE in diabetic mice model. Diabetes was induced in male BALB/c mice, with a dose of streptozotocin (130 mg/kg). Healthy and diabetic mice were inoculated via intranasal with 1 × 10(6) trophozoites of A...
September 13, 2017: Experimental Parasitology
https://www.readbyqxmd.com/read/28917696/brain-mapping-in-multiple-sclerosis-lessons-learned-about-the-human-brain
#3
REVIEW
Massimo Filippi, Paolo Preziosa, Maria A Rocca
The application of structural and functional magnetic resonance imaging (MRI) techniques in patients with multiple sclerosis (MS) has certainly helped to improve our understanding of the mechanisms responsible for clinical disability and cognitive impairment in this condition. The numerous studies performed in MS patients have also provided many lessons on the structure-function relationships in the human brain, which could be applied to healthy subjects and to patients affected by other neurological conditions...
September 13, 2017: NeuroImage
https://www.readbyqxmd.com/read/28916769/therapeutic-effects-of-the-mitochondrial-ros-redox-modulator-kh176-in-a-mammalian-model-of-leigh-disease
#4
Ria de Haas, Devashish Das, Alejandro Garanto, Herma G Renkema, Rick Greupink, Petra van den Broek, Jeanne Pertijs, Rob W J Collin, Peter Willems, Julien Beyrath, Arend Heerschap, Frans G Russel, Jan A Smeitink
Leigh Disease is a progressive neurometabolic disorder for which a clinical effective treatment is currently still lacking. Here, we report on the therapeutic efficacy of KH176, a new chemical entity derivative of Trolox, in Ndufs4 (-/-) mice, a mammalian model for Leigh Disease. Using in vivo brain diffusion tensor imaging, we show a loss of brain microstructural coherence in Ndufs4 (-/-) mice in the cerebral cortex, external capsule and cerebral peduncle. These findings are in line with the white matter diffusivity changes described in mitochondrial disease patients...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28916531/diabetes-prediabetes-and-brain-volumes-and-subclinical-cerebrovascular-disease-on-mri-the-atherosclerosis-risk-in-communities-neurocognitive-study-aric-ncs
#5
Andrea L C Schneider, Elizabeth Selvin, A Richey Sharrett, Michael Griswold, Josef Coresh, Clifford R Jack, David Knopman, Thomas Mosley, Rebecca F Gottesman
OBJECTIVE: To examine the associations of prediabetes, diabetes, and diabetes severity (as assessed by HbA1c and diabetes duration) with brain volumes and vascular pathology on brain MRI and to assess whether the associations of diabetes with brain volumes are mediated by brain vascular pathology. RESEARCH DESIGN AND METHODS: Cross-sectional study of 1,713 participants in the Atherosclerosis Risk in Communities Neurocognitive Study (mean age 75 years, 60% female, 27% black, 30% prediabetes, and 35% diabetes) who underwent 3T brain MRI scans in 2011-2013...
September 15, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28916179/a-comparison-of-inhomogeneous-magnetization-transfer-myelin-volume-fraction-and-diffusion-tensor-imaging-measures-in-healthy-children
#6
REVIEW
Bryce L Geeraert, R Marc Lebel, Alyssa C Mah, Sean C Deoni, David C Alsop, Gopal Varma, Catherine Lebel
Sensitive and specific biomarkers of myelin can help define baseline brain health and development, identify and monitor disease pathology, and evaluate response to treatment where myelin content is affected. Diffusion measures such as radial diffusivity (RD) are commonly used to assess myelin content, but are not specific to myelin. Inhomogeneous magnetization transfer (ihMT) and multicomponent driven equilibrium single-pulse observation of T1 and T2 (mcDESPOT) offer quantitative parameters (qihMT and myelin volume fraction/VFm, respectively) which are suggested to have improved sensitivity to myelin...
September 12, 2017: NeuroImage
https://www.readbyqxmd.com/read/28915150/tics-and-tourette-a-clinical-pathophysiological-and-etiological-review
#7
Russell C Dale
PURPOSE OF REVIEW: Describe developments in the etiological understanding of Tourette syndrome. RECENT FINDINGS: Tourette syndrome is a complex heterogenous clinical syndrome, which is not a unitary entity. Pathophysiological models describe gamma-aminobutyric acid-ergic-associated disinhibition of cortico-basal ganglia motor, sensory and limbic loops. MRI studies support basal ganglia volume loss, with additional white matter and cerebellar changes. Tourette syndrome cause likely involves multiple vulnerability genes and environmental factors...
September 14, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28914269/looking-beyond-the-exome-a-phenotype-first-approach-to-molecular-diagnostic-resolution-in-rare-and-undiagnosed-diseases
#8
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, Jennifer A Sullivan, Allyn McConkie-Rosell, Sujay Kansagra, Edward C Smith, Mays El-Dairi, Jane Bellet, Martha Ann Keels, Joan Jasien, Peter G Kranz, Richard Noel, Shashi K Nagaraj, Robert K Lark, Daniel S G Wechsler, Daniela Del Gaudio, Marco L Leung, Laura G Hendon, Collette C Parker, Kelly L Jones, David B Goldstein, Vandana Shashi
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28912641/toll-like-receptor-2-a-novel-therapeutic-target-for-ischemic-white-matter-injury-and-oligodendrocyte-death
#9
REVIEW
Jun Young Choi, Byung Gon Kim
Despite paramount clinical significance of white matter stroke, there is a paucity of researches on the pathomechanism of ischemic white matter damage and accompanying oligodendrocyte (OL) death. Therefore, a large gap exists between clinical needs and laboratory researches in this disease entity. Recent works have started to elucidate cellular and molecular basis of white matter injury under ischemic stress. In this paper, we briefly introduce white matter stroke from a clinical point of view and review pathophysiology of ischemic white matter injury characterized by OL death and demyelination...
August 2017: Experimental Neurobiology
https://www.readbyqxmd.com/read/28910618/ran-translation-regulated-by-muscleblind-proteins-in-myotonic-dystrophy-type-2
#10
Tao Zu, John D Cleary, Yuanjing Liu, Monica Bañez-Coronel, Jodi L Bubenik, Fatma Ayhan, Tetsuo Ashizawa, Guangbin Xia, H Brent Clark, Anthony T Yachnis, Maurice S Swanson, Laura P W Ranum
Several microsatellite-expansion diseases are characterized by the accumulation of RNA foci and RAN proteins, raising the possibility of a mechanistic connection. We explored this question using myotonic dystrophy type 2, a multisystemic disease thought to be primarily caused by RNA gain-of-function effects. We demonstrate that the DM2 CCTG⋅CAGG expansion expresses sense and antisense tetrapeptide poly-(LPAC) and poly-(QAGR) RAN proteins, respectively. In DM2 autopsy brains, LPAC is found in neurons, astrocytes, and glia in gray matter, and antisense QAGR proteins accumulate within white matter...
September 13, 2017: Neuron
https://www.readbyqxmd.com/read/28910373/lack-of-association-of-mri-determined-subclinical-cardiovascular-disease-with-dizziness-and-vertigo-in-a-cross-sectional-population-based-study
#11
Roberto Lorbeer, Holger Hetterich, Ralf Strobl, Anina Schafnitzel, Hannah Patscheider, Andreas Schindler, Katharina Müller-Peltzer, Wieland Sommer, Annette Peters, Christa Meisinger, Margit Heier, Wolfgang Rathmann, Fabian Bamberg, Eva Grill
OBJECTIVE: We investigated the association between subclinical cardiovascular diseases assessed by MRI examination and symptoms of dizziness and vertigo in participants of a population-based sample. METHODS: Data from 400 participants (169 women) aged from 39 to 73 of a cross-sectional MRI sub-study of the "Kooperative Gesundheitsforschung in der Region Augsburg" (KORA) FF4 study from the south of Germany was used. MRI determined subclinical cardiovascular diseases include left and right ventricular structure and function as well as the presence of carotid plaque and carotid wall thickness...
2017: PloS One
https://www.readbyqxmd.com/read/28906203/the-relation-between-total-cerebral-small-vessel-disease-burden-and-gait-impairment-in-patients-with-minor-stroke
#12
Caroline Mj Loos, Caroline McHutchison, Vera Cvoro, Stephen Dj Makin, Julie Staals, Francesca Chappell, Martin S Dennis, Robert J van Oostenbrugge, Joanna M Wardlaw
Background and aims Individual MRI markers of cerebral small vessel disease are associated with gait impairment. The impact of total cerebral small vessel disease-related brain damage, expressed by a cerebral small vessel disease MRI burden score, on mobility after stroke, has not been considered, although this score gives a better representation of the overall effect of cerebral small vessel disease on the brain. We determined if the total cerebral small vessel disease burden is associated with gait impairment three years after minor stroke...
January 1, 2017: International Journal of Stroke: Official Journal of the International Stroke Society
https://www.readbyqxmd.com/read/28904382/multidimensional-encoding-of-brain-connectomes
#13
Cesar F Caiafa, Franco Pestilli
The ability to map brain networks in living individuals is fundamental in efforts to chart the relation between human behavior, health and disease. Advances in network neuroscience may benefit from developing new frameworks for mapping brain connectomes. We present a framework to encode structural brain connectomes and diffusion-weighted magnetic resonance (dMRI) data using multidimensional arrays. The framework integrates the relation between connectome nodes, edges, white matter fascicles and diffusion data...
September 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28902409/binswanger-s-disease-biomarkers-in-the-inflammatory-form-of-vascular-cognitive-impairment-and-dementia
#14
REVIEW
Gary A Rosenberg
Vascular cognitive impairment and dementia (VCID) is a major public health concern because of the increased incidence of vascular disease in the aging population and the impact of vascular disease on Alzheimer's disease. VCID is a heterogeneous group of diseases for which there are no proven treatments. Biomarkers can be used to select more homogeneous populations. Small vessel disease is the most prevalent form of VCID and is the optimal form for treatment trials because there is a progressive course with characteristic pathological changes...
September 13, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28902089/new-insights-in-vanishing-white-matter-disease-isolated-bilateral-optic-neuropathy-in-adult-onset-disease
#15
Sandra R Barros, Sónia C R Parreira, Ana F B Miranda, Ana M B Pereira, Nuno M P Campos
BACKGROUND: Vanishing white matter disease (VWMD) is a rare disease affecting cerebral white matter. The adult form is even rarer and manifests with motor symptoms, behavioral problems, and dementia. There is no treatment and progression is inevitable. We describe a case with atypical manifestations and an unusual course. METHODS: Description of a 42-year-old man with VWMD complaining of progressive visual loss in the right eye. RESULTS: The patient's visual acuity was 20/60, right eye, and 20/25, left eye, with pale optic nerves bilaterally...
September 7, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28901627/microstructural-white-matter-alterations-in-patients-with-drug-induced-parkinsonism
#16
Yoonju Lee, Yong Ho Choi, Jae Jung Lee, Hye Sun Lee, Young H Sohn, Jong-Min Lee, Phil Hyu Lee
Drug-induced parkinsonism (DIP) is the second most common etiology of parkinsonism. And yet, there is little information on structural imaging in DIP to elucidate the accurate underlying pathomechanisms. To investigate microstructural white matter (WM) in patients with DIP using diffusion tensor image and to determine its relationship to severity of parkinsonian motor symptoms and cognitive function. A total of 42 patients with DIP, 65 with Parkinson's disease, and 33 control subjects were recruited from a movement disorders outpatient clinic...
September 12, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28899518/relationship-between-obstructive-sleep-apnea-and-neuroimaging-signatures-of-cerebral-small-vessel-disease-in-community-dwelling-older-adults-the-atahualpa-project
#17
Oscar H Del Brutto, Robertino M Mera, Mauricio Zambrano, Pablo R Castillo
BACKGROUND/OBJECTIVES: Evidence of a relationship between obstructive sleep apnea (OSA) and neuroimaging signatures of cerebral small vessel disease (SVD) is limited. The present study aimed to evaluate this association in older adults living in rural Ecuador, where small vessel disease is a major pathogenetic mechanism underlying stroke. METHODS: A representative random sample of Atahualpa residents aged ≥60 years enrolled in the Atahualpa Project neuroimaging substudy underwent a single-night diagnostic polysomnography...
September 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28895702/-x-linked-adrenoleukodystrophy-a-report-of-three-cases-the-importance-of-early-diagnosis
#18
Marta López Úbeda, Antonio de Arriba Muñoz, Marta Ferrer Lozano, José I Labarta Aizpún, María C García Jiménez
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28893898/left-ventricular-mass-brain-magnetic-resonance-imaging-and-cognitive-performance-results-from-the-strong-heart-study
#19
Bernhard Haring, Adam Omidpanah, Astrid M Suchy-Dicey, Lyle G Best, Steven P Verney, Dean K Shibata, Shelley A Cole, Tauqeer Ali, Barbara V Howard, Dedra Buchwald, Richard B Devereux
Left ventricular mass (LVM) has been shown to serve as a measure of target organ damage resulting from chronic exposure to several risk factors. Data on the association of midlife LVM with later cognitive performance are sparse. We studied 721 adults (mean age 56 years at baseline) enrolled in the Strong Heart Study (SHS, 1993-1995) and the ancillary CDCAI (Cerebrovascular Disease and Its Consequences in American Indians) Study (2010-2013), a study population with high prevalence of cardiovascular disease. LVM was assessed with transthoracic echocardiography at baseline in 1993 to 1995...
September 11, 2017: Hypertension
https://www.readbyqxmd.com/read/28893007/mri-in-chemotherapy-induced-leukoencephalopathy-report-of-two-cases-and-radiologist-s-perspective
#20
Geetika Sindhwani, Manali Arora, Vishal Dhirenbhai Thakker, Abhinav Jain
Leukoencephalopathy is a progressive white matter disease primarily caused due to myelin damage by a variety of factors. Chemotherapy for oncological treatment is an uncommon but important cause of potentially reversible leukoencephalopathy. In current radiological setting, conventional and diffusion weighted MRI play a significant role in early and accurate detection of this entity. We are hereby presenting MRI evaluation of two cases of methotrexate and 5-fluorouracil induced toxic leukoencephalopathy.
July 2017: Journal of Clinical and Diagnostic Research: JCDR
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