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https://www.readbyqxmd.com/read/28818358/black-toenail-sign-in-melas-syndrome
#1
Matthew T Whitehead, Michael Wien, Bonmyong Lee, Nancy Bass, Andrea Gropman
BACKGROUND: Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a mitochondrial disorder often causing progressive brain injury that is not confined to large arterial territories. Severe insults ultimately lead to gyral necrosis affecting the cortex and juxtacortical white matter; the neuroimaging correlate is partial gyral signal suppression on T2/FLAIR sequences that resemble black toenails. We aimed to characterize the imaging features and the natural history of MELAS-related gyral necrosis...
July 12, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28815874/white-matter-alterations-associate-with-onset-symptom-dimension-in-obsessive-compulsive-disorder
#2
Irene Bollettini, Mario Gennaro Mazza, Laura Muzzarelli, Sara Dallaspezia, Sara Poletti, Benedetta Vai, Enrico Smeraldi, Francesco Benedetti
AIM: The high heterogeneity of obsessive-compulsive disorder is best described by a multidimensional model involving symptom dimensions. Our study aimed at investigating white matter alterations associated with obsessive-compulsive disorder focusing on the impact of long lasting effect of symptom dimensions assessed at onset of the illness. Furthermore, we investigate white matter alterations associated with this disorder controlling for the impact of medications and for the prevailing current symptom dimension...
August 16, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28814166/late-presentation-of-nmosd-as-rapidly-progressive-leukoencephalopathy-with-atypical-clinical-and-radiological-findings
#3
Elia Sechi, Alberto Addis, Lucia Batzu, Sara Mariotto, Sergio Ferrari, Maurizio Conti, GianPietro Sechi
Brain abnormalities in neuromyelitis optica spectrum disorder (NMOSD) are highly heterogeneous and often non-specific. Extensive white matter involvement has been described and frequently manifests with encephalopathy requiring prompt intervention. Rarely, this may represent the only manifestation at onset without concurrent suggestive features of the disease, thus making diagnosis challenging. NMOSD may potentially occur at any age, but it seems that this disorder has distinctive clinical features in the elderly...
August 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28810563/dystrophia-myotonica-type-1-presenting-with-dysarthria-a-case-report-and-literature-review
#4
Chunrong Li, Xiaoling Zhang, Chunkui Zhou, Lijun Zhu, Kangding Liu, Shaokuan Fang
Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene (chromosome 19q13.3). The disorder affects different organ systems, including the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems. The skeletal muscles are most frequently involved, whereby the disorder manifests as myotonia, muscle weakness and amyotrophy...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28804634/muscle-mri-findings-in-a-one-year-old-girl-with-merosin-deficient-congenital-muscular-dystrophy-type-1a-due-to-lama2-mutation-a-case-report
#5
Yingyin Liang, Guidian Li, Songlin Chen, Rongxing He, Xiangxue Zhou, Yingming Chen, Xue Xu, Ronglan Zhu, Cheng Zhang
The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the Cornu posterius of the ventricular lateral...
August 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28802862/microrna-21-expression-in-oligodendrocytes-and-correlation-with-low-myelin-mrnas-in-depression-and-alcoholism
#6
José Javier Miguel-Hidalgo, Katherine O Hall, Hannah Bonner, Anna M Roller, Maryam Syed, Casey J Park, Jana P Ball, Marc E Rothenberg, Craig A Stockmeier, Damian G Romero
MiR-21 is a microRNA implicated in cancer, development, and cardiovascular diseases and expressed in the central nervous system (CNS), especially after injury. However, the cellular expression of miR-21 in the adult CNS has not been clearly established either in mice or human subjects, while its alteration in psychiatric disorders is unknown. MiR-21 expression was characterized in reporter mice expressing β-galactosidase (LacZ) under the endogenous miR-21 promoter (miR-21/LacZ). Brain co-localization of miR-21/LacZ with specific neural markers was examined by double immunofluorescence in reporter mice, while extent of immunostaining for myelin basic protein and PDGFRα was determined in miR-21 knockout and wild-type mice...
August 9, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28801730/prospective-changes-in-neural-alcohol-cue-reactivity-in-at-risk-adolescents
#7
Tam T Nguyen-Louie, Kelly E Courtney, Lindsay M Squeglia, Kara Bagot, Sonja Eberson, Robyn Migliorini, Alexis R Alcaraz, Susan F Tapert, Carmen Pulido
Adolescence represents an ideal time for elucidating the etiology of cue reactivity profiles. This study examined the influence of three risk factors consistently associated with heavy adolescent drinking on alcohol cue reactivity. Youth were first assessed while still naïve to alcohol (12-14 years old) and followed after transitioning into alcohol use (17-21 years old). The effects of family history of substance use disorder, sex, and history of early of dating (i.e., before 14 years of age) on BOLD response contrast to alcohol picture cues were examined in a linear mixed model, controlling for age and alcohol use patterns at follow-up...
August 11, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28799704/the-nature-consequences-and-management-of-neurological-disorders-in-chronic-kidney-disease
#8
REVIEW
Bahman Jabbari, Nosratola D Vaziri
Perhaps no other organ in the body is affected as often and in as many ways as the brain is in patients with chronic kidney disease (CKD). Several factors contribute to the neurological disorders in CKD including accumulation of uremic toxins, metabolic and hemodynamic disorders, oxidative stress, inflammation, and impaired blood brain barrier among others. The neurological disorders in CKD involve both peripheral and central nervous system. The peripheral neurological symptoms of CKD are due to somatic and cranial peripheral neuropathies as well as a myopathy...
August 11, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28796415/white-matter-tract-integrity-is-associated-with-antidepressant-response-to-lurasidone-in-bipolar-depression
#9
Martin J Lan, Harry Rubin-Falcone, Fatima Motiwala, Ying Chen, Jonathan W Stewart, David J Hellerstein, J John Mann, Patrick J McGrath
OBJECTIVES: Patients with bipolar disorder spend the most time in the depressed phase, and that phase is associated with the most morbidity and mortality. Treatment of bipolar depression lacks a test to determine who will respond to treatment. White matter disruptions have been found in bipolar disorder. Previous reports suggest that white matter disruptions may be associated with resistance to antidepressant medication, but this has never been investigated in a prospective study using a Food and Drug Administration (FDA)-approved medication...
August 10, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28794983/multimodal-structural-mri-in-the-diagnosis-of-motor-neuron-diseases
#10
Pilar M Ferraro, Federica Agosta, Nilo Riva, Massimiliano Copetti, Edoardo Gioele Spinelli, Yuri Falzone, Gianni Sorarù, Giancarlo Comi, Adriano Chiò, Massimo Filippi
This prospective study developed an MRI-based method for identification of individual motor neuron disease (MND) patients and test its accuracy at the individual patient level in an independent sample compared with mimic disorders. 123 patients with amyotrophic lateral sclerosis (ALS), 44 patients with predominantly upper motor neuron disease (PUMN), 20 patients with ALS-mimic disorders, and 78 healthy controls were studied. The diagnostic accuracy of precentral cortical thickness and diffusion tensor (DT) MRI metrics of corticospinal and motor callosal tracts were assessed in a training cohort and externally proved in a validation cohort using a random forest analysis...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28782169/impact-of-neonatal-hypoxia-ischaemia-on-oligodendrocyte-survival-maturation-and-myelinating-potential
#11
Malgorzata Ziemka-Nalecz, Justyna Janowska, Lukasz Strojek, Joanna Jaworska, Teresa Zalewska, Malgorzata Frontczak-Baniewicz, Joanna Sypecka
Hypoxic-ischaemic episodes experienced at the perinatal period commonly lead to a development of neurological disabilities and cognitive impairments in neonates or later in childhood. Clinical symptoms often are associated with the observed alterations in white matter in the brains of diseased children, suggesting contribution of triggered oligodendrocyte/myelin pathology to the resulting disorders. To date, the processes initiated by perinatal asphyxia remain unclear, hampering the ability to develop preventions...
August 7, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28781902/study-on-lesion-assessment-of-cerebello-thalamo-cortical-network-in-wilson-s-disease-with-diffusion-tensor-imaging
#12
Anqin Wang, Hongli Wu, Chunsheng Xu, Lanfeng Tang, Jaeyoun Lee, Min Wang, Man Jiang, Chuanfu Li, Qi Lu, Chunyun Zhang
Wilson's disease (WD) is a genetic disorder of copper metabolism with pathological copper accumulation in the brain and any other tissues. This article aimed to assess lesions in cerebello-thalamo-cortical network with an advanced technique of diffusion tensor imaging (DTI) in WD. 35 WD patients and 30 age- and sex-matched healthy volunteers were recruited to accept diffusion-weighted images with 15 gradient vectors and conventional magnetic resonance imaging (MRI). The DTI parameters, including fractional anisotropy (FA) and mean diffusion (MD), were calculated by diffusion kurtosis estimator software...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28780827/-imaging-diagnosis-of-95-cases-of-moderate-and-severe-acute-carbon-monoxide-poisoning
#13
N N Hao, C Tian, K X Lian, T Han, S Jin
Objective: To explore the difference of radiological imaging features of delayed encephalopathy after carbon monoxide poisoning (DECMP) and acute carbon monoxide poisoning (ACMP) , and the correlation between the imaging findings and clinical prognosis of the disease. Methods: The correlation between imaging findings and clinical manifestations and prognosis of 95 patients with moderate and severe acute carbon monoxide poisoning were retrospectively analyzed. In the above 95 cases, there were 62 cases of ACMP and 33 cases of DEACMP...
June 20, 2017: Chinese Journal of Industrial Hygiene and Occupational Diseases
https://www.readbyqxmd.com/read/28771482/uncoupling-protein-2-haplotype-does-not-affect-human-brain-structure-and-function-in-a-sample-of-community-dwelling-older-adults
#14
Verena Heise, Enikő Zsoldos, Sana Suri, Claire Sexton, Anya Topiwala, Nicola Filippini, Abda Mahmood, Charlotte L Allan, Archana Singh-Manoux, Mika Kivimäki, Clare E Mackay, Klaus P Ebmeier
Uncoupling protein 2 (UCP2) is a mitochondrial membrane protein that plays a role in uncoupling electron transport from adenosine triphosphate (ATP) formation. Polymorphisms of the UCP2 gene in humans affect protein expression and function and have been linked to survival into old age. Since UCP2 is expressed in several brain regions, we investigated in this study whether UCP2 polymorphisms might 1) affect occurrence of neurodegenerative or mental health disorders and 2) affect measures of brain structure and function...
2017: PloS One
https://www.readbyqxmd.com/read/28769756/an-lmnb1-duplication-caused-adult-onset-autosomal-dominant-leukodystrophy-in-chinese-family-clinical-manifestations-neuroradiology-and-genetic-diagnosis
#15
Yi Dai, Yaling Ma, Shengde Li, Santasree Banerjee, Shengran Liang, Qing Liu, Yinchang Yang, Bin Peng, Liying Cui, Liri Jin
Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1) gene causes ADLD. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. The proband is a 52-year old man manifested with autonomic abnormalities, pyramidal tract dysfunction. MRI brain scan identified bilateral symmetric white matter (WM) hyper-intensities in periventricular and semi-oval WM, cerebral peduncles and middle cerebellar peduncles...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28768443/neurobrucellosis
#16
Na Zheng, Wei Wang, Jia-Tang Zhang, Ya Cao, Long Shao, Jiao-Jiao Jiang, Xu-Sheng Huang, Cheng-Lin Tian, Sheng-Yuan Yu
Neurobrucellosis (NB) is a rare complication of brucellosis. NB presents with a variety of clinical manifestations, and the symptoms are always atypical. Our aim was to analyze the demographic characteristics, clinical manifestations, laboratory findings, imaging findings, treatments and outcomes of patients with NB. We retrospectively reviewed the data from 17 patients with NB hospitalized at the Chinese People's Liberation Army General Hospital between January 1, 2005 and October 31, 2016. The following symptoms were recorded: 10/17 (59%) patients had fever, and 9/17 (53%) patients had a disorder affecting urination and defecation...
August 3, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28768312/association-of-white-matter-with-core-cognitive-deficits-in-patients-with-schizophrenia
#17
Peter Kochunov, Thomas R Coyle, Laura M Rowland, Neda Jahanshad, Paul M Thompson, Sinead Kelly, Xiaoming Du, Hemalatha Sampath, Heather Bruce, Joshua Chiappelli, Meghann Ryan, Feven Fisseha, Anya Savransky, Bhim Adhikari, Shuo Chen, Sara A Paciga, Christopher D Whelan, Zhiyong Xie, Craig L Hyde, Xing Chen, Christian R Schubert, Patricio O'Donnell, L Elliot Hong
Importance: Efforts to remediate the multiple cognitive function impairments in schizophrenia should consider white matter as one of the underlying neural mechanisms. Objective: To determine whether altered structural brain connectivity is responsible for 2 of the core cognitive deficits in schizophrenia- reduced information processing speed and impaired working memory. Design, Setting, and Participants: This cross-sectional study design took place in outpatient clinics from August 1, 2004, to August 31, 2015...
August 2, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28763065/genome-wide-association-analysis-identifies-common-variants-influencing-infant-brain-volumes
#18
K Xia, J Zhang, M Ahn, S Jha, J J Crowley, J Szatkiewicz, T Li, F Zou, H Zhu, D Hibar, P Thompson, P F Sullivan, M Styner, J H Gilmore, R C Knickmeyer
Genome-wide association studies (GWAS) of adolescents and adults are transforming our understanding of how genetic variants impact brain structure and psychiatric risk, but cannot address the reality that psychiatric disorders are unfolding developmental processes with origins in fetal life. To investigate how genetic variation impacts prenatal brain development, we conducted a GWAS of global brain tissue volumes in 561 infants. An intronic single-nucleotide polymorphism (SNP) in IGFBP7 (rs114518130) achieved genome-wide significance for gray matter volume (P=4...
August 1, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28761906/mri-evaluation-of-thalamic-volume-differentiates-ms-from-common-mimics
#19
Andrew J Solomon, Richard Watts, Blake E Dewey, Daniel S Reich
OBJECTIVE: To determine whether MRI evaluation of thalamic volume differentiates MS from other disorders that cause MRI white matter abnormalities. METHODS: There were 40 study participants: 10 participants with MS without additional comorbidities for white matter abnormalities (MS - c); 10 participants with MS with additional comorbidities for white matter abnormalities (MS + c); 10 participants with migraine, MRI white matter abnormalities, and no additional comorbidities for white matter abnormalities (Mig - c); and 10 participants previously incorrectly diagnosed with MS (Misdx)...
September 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28757335/imaging-in-cutis-laxa-syndrome-caused-by-a-dominant-negative-aldh18a1-mutation-with-hypotheses-for-intracranial-vascular-tortuosity-and%C3%A2-wide-perivascular-spaces
#20
P F Sinnige, C M A van Ravenswaaij-Arts, P Caruso, A E Lin, M Boon, E Rahikkala, B Callewaert, L C Meiners
The autosomal dominant progeroid form of cutis laxa is a recently identified multiple congenital anomaly disorder characterized by thin, wrinkled skin, a progeroid appearance, intra-uterine growth retardation, postnatal growth restriction, psychomotor developmental delay, microcephaly, cataract, hypotonia and contractures. De novo heterozygous mutations in ALDH18A1 have been described in this condition. We present neuroimaging abnormalities in three patients. One patient had intracranial arterial and venous tortuosity, widened ventricular and extra-axial cerebrospinal fluid (CSF) spaces, wide perivascular spaces and increased T2 signal intensity in the cerebral white matter over time...
July 18, 2017: European Journal of Paediatric Neurology: EJPN
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