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https://www.readbyqxmd.com/read/28941407/targeted-neurogenesis-pathway-based-gene-analysis-identifies-adora2a-associated-with-hippocampal-volume-in-mild-cognitive-impairment-and-alzheimer-s-disease
#1
Emrin Horgusluoglu-Moloch, Kwangsik Nho, Shannon L Risacher, Sungeun Kim, Tatiana Foroud, Leslie M Shaw, John Q Trojanowski, Paul S Aisen, Ronald C Petersen, Clifford R Jack, Simon Lovestone, Andrew Simmons, Michael W Weiner, Andrew J Saykin
Alzheimer's disease (AD) patients display hippocampal atrophy, memory impairment, and cognitive decline. New neurons are generated throughout adulthood in 2 regions of the brain implicated in AD, the dentate gyrus of the hippocampus and the subventricular zone of the olfactory bulb. Disruption of this process contributes to neurodegenerative diseases including AD, and many of the molecular players in AD are also modulators of adult neurogenesis. However, the genetic mechanisms underlying adult neurogenesis in AD have been underexplored...
August 18, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28937033/transcranial-sonographic-alterations-of-substantia-nigra-and-third-ventricle-in-parkinson-s-disease-with-or-without-dementia
#2
Zhi-Fen Dong, Cai-Shan Wang, Ying-Chun Zhang, Ying Zhang, Yu-Jing Sheng, Hua Hu, Wei-Feng Luo, Chun-Feng Liu
BACKGROUND: Numerous studies have demonstrated that patients with Parkinson's disease (PD) have a higher prevalence of substantia nigra (SN) hyperechogenicity compared with controls. Our aim was to explore the neuroimaging characteristics of transcranial sonography (TCS) of patients with PD and those with PD with dementia (PDD). The correlation between the echogenicity of the SN and clinical symptoms in Chinese patients with PDD was also assessed. METHODS: The ratios of SN hyperechogenicity (SN+), maximum sizes of SN+, and widths of third ventricle (TV) were measured using TCS for all the recruited patients...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28936769/nlrp3-inflammasome-activation-in-a-transgenic-amyotrophic-lateral-sclerosis-model
#3
Agnese Gugliandolo, Sabrina Giacoppo, Placido Bramanti, Emanuela Mazzon
Amyotrophic lateral sclerosis (ALS) is a disabling progressive disease characterized by the degeneration of motor neurons, leading to muscle atrophy and paralysis. The majority of cases are sporadic, but also a familiar form of ALS exists, and some genes causative of the pathology were found. In particular, mutations in superoxide dismutase 1 (SOD1) were found in 20% of familiar cases. It is known that neuroinflammation plays a pivotal role in several neurodegenerative disorders, including ALS. Inflammasomes are protein complexes that induce inflammation in response to various stimuli, involved also in neuroinflammation...
September 21, 2017: Inflammation
https://www.readbyqxmd.com/read/28934376/managing-menopausal-symptoms-and-associated-clinical-issues-in-breast-cancer-survivors
#4
Richard J Santen, Cynthia A Stuenkel, Susan R Davis, JoAnn V Pinkerton, Anne Gompel, Mary Ann Lumsden
Objective: Review evidence to guide the management of menopausal signs and symptoms in women after breast cancer and make recommendations accordingly. Evidence: Randomized controlled clinical trials, observational studies, evidence- based guidelines, and expert opinion from professional societies. Background: Several symptoms and clinical problems associated with estrogen depletion -sleep disorders, vulvovaginal atrophy (VVA), vasomotor symptoms (VMS), mood changes, depressive symptoms, cardiovascular disease, osteopenia and osteoporosis- confront the estimated 9...
August 2, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28928705/the-role-of-t1-weighted-derived-measures-of-neurodegeneration-for-assessing-disability-progression-in-multiple-sclerosis
#5
REVIEW
Maria A Rocca, Giancarlo Comi, Massimo Filippi
INTRODUCTION: Multiple sclerosis (MS) is characterised by the accumulation of permanent neurological disability secondary to irreversible tissue loss (neurodegeneration) in the brain and spinal cord. MRI measures derived from T1-weighted image analysis (i.e., black holes and atrophy) are correlated with pathological measures of irreversible tissue loss. Quantifying the degree of neurodegeneration in vivo using MRI may offer a surrogate marker with which to predict disability progression and the effect of treatment...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28928491/freezing-of-gait-is-associated-with-cortical-thinning-in-mesial-frontal-cortex
#6
Miroslav Vastik, Pavel Hok, Jan Valosek, Petr Hlustik, Katerina Mensikova, Petr Kanovsky
AIMS: The relationship between freezing of gait (FOG) and regional brain atrophy has been intensively investigated, but it is still not clearly understood. The study objective was to test whether grey matter (GM) atrophy contributes to FOG in Parkinson´s disease (PD) using a surface-based algorithm. METHODS: We investigated 21 patients with PD, 11 with FOG and 10 without FOG. Both groups were assessed using a FOG questionnaire and Hoehn and Yahr staging. High resolution T1-weighted brain images were acquired for each subject using a 1...
September 13, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28927557/cacna1a-related-early-onset-encephalopathy-with-myoclonic-epilepsy-a-case-report
#7
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Hiroyuki Yamada, Ayako Itakura, Toshinori Minato, Tetsuhiro Fukuyama, Yoshihiro Maegaki, Shinichi Hirose
We report a one-year-old boy with early-onset myoclonic epilepsy, developmental arrest, and hyperekplexia during early infancy. He presented with refractory myoclonic/tonic seizures since birth. Electroencephalography revealed multifocal spikes, and rhythmic activities that occurred simultaneous with aggravation of myoclonus accompanied by tonic upper limb elevation. Brain magnetic resonance imaging revealed progressive cerebral atrophy with periventricular signal change and thin corpus callosum at one year of age...
September 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28925598/atrophy-of-the-parahippocampal-gyrus-is-prominent-in-heart-failure-patients-without-dementia
#8
Tomomi Meguro, Yuko Meguro, Takeyoshi Kunieda
AIMS: The exacerbation of heart failure (HF) induces brain damage and cognitive impairment (CI), which frequently attenuates the effects of treatment. However, it is not clear whether HF patients without clinical dementia demonstrate increased risk of CI. We examined whether local atrophy in the parahippocampal gyrus, a potential predictor of CI, is prominent in HF patients without clinical dementia. METHODS AND RESULTS: Twenty stable HF patients with a history of admission due to decompensated HF or presentation of apparent pulmonary congestion following chest X-ray and 17 controls were enrolled in this observational, analytical, cross-sectional, case-control study...
July 17, 2017: ESC Heart Failure
https://www.readbyqxmd.com/read/28923598/testicular-atrophy-and-reproductive-quiescence-in-photorefractory-and-scotosensitive-quail-involvement-of-hypothalamic-deep-brain-photoreceptors-and-gnrh-gnih-system
#9
Somanshu Banerjee, Chandra Mohini Chaturvedi
Birds time their daily and seasonal activities in synchronization with circadian and annual periodicities in the environment, which is mainly provided by changes in photoperiod/day length conditions. Photoperiod appears to act at the level of eye, pineal and encephalic/deep brain photoperception and thus entrain the hypothalamic clock as well as reproductive circuitry in different avian species. In this article our focus of study is to elucidate out the underlying molecular mechanism of modulation of the hypothalamic reproductive circuitry following the photoperception through the hypothalamic photoreceptor cells and the subsequent alteration in the reproductive responses in quail, kept under different simulated photoperiodic conditions...
September 7, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28923528/arterial-spin-labeling-hyperperfusion-in-rasmussen-s-encephalitis-is-it-due-to-focal-brain-inflammation-or-a-post-ictal-phenomenon
#10
Savith Kumar, Chinmay P Nagesh, Bejoy Thomas, Ashalatha Radhakrishnan, Ramshekhar N Menon, Chandrasekharan Kesavadas
BACKGROUND AND PURPOSE: The study evaluated the utility of Arterial spin labeling (ASL) perfusion imaging in Rasmussen's Encephalitis (RE). MATERIAL AND METHODS: The hospital electronic database was searched using the search words "encephalitis," "autoimmune encephalitis" and "Rasmussen's encephalitis" for the period of 1 Jan 2015 to 31 Jan 2017. Clinically diagnosed cases of RE for which epilepsy protocol magnetic resonance imaging (MRI) with perfusion imaging (ASL) performed on a 3T scanner were retrieved...
September 15, 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28922846/different-complicated-brain-pathologies-in-monozygotic-twins-with-gerstmann-str%C3%A3-ussler-scheinker-disease
#11
Hiroyuki Honda, Kensuke Sasaki, Hiroshi Takashima, Daisuke Mori, Sachiko Koyama, Satoshi O Suzuki, Toru Iwaki
Gerstmann-Sträussler-Scheinker disease (GSS) is an autosomal, dominantly inherited prion disease. In this study, we present different complicated brain pathologies determined postmortem of monozygotic GSS twin sisters. Case 1 showed cerebellar ataxia at the age of 58 years, and died at 66 years. Case 2 became symptomatic at the age of 75 years, and died at 79 years. There was a 17-year difference in the age of onset between the twins. Postmortem examination revealed numerous prion protein (PrP) plaques in the brains of both cases...
October 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28919059/rates-of-hippocampal-atrophy-and-presence-of-post-mortem-tdp-43-in-patients-with-alzheimer-s-disease-a-longitudinal-retrospective-study
#12
Keith A Josephs, Dennis W Dickson, Nirubol Tosakulwong, Stephen D Weigand, Melissa E Murray, Leonard Petrucelli, Amanda M Liesinger, Matthew L Senjem, Anthony J Spychalla, David S Knopman, Joseph E Parisi, Ronald C Petersen, Clifford R Jack, Jennifer L Whitwell
BACKGROUND: Post-mortem studies have not identified an association between β-amyloid or tau and rates of hippocampal atrophy in patients with Alzheimer's disease. TAR DNA binding protein 43 (TDP-43) is another protein linked to Alzheimer's disease. We aimed to investigate whether hippocampal TDP-43 is associated with increased rates of hippocampal atrophy. METHODS: In this longitudinal retrospective study, we analysed post-mortem brain tissue of all individuals with an Alzheimer's disease spectrum pathological diagnosis who had antemortem head MRI scans between Jan 1, 1999, and Dec 31, 2012, and who had been recruited into the Mayo Clinic Alzheimer's Disease Research Center, Mayo Clinic Alzheimer's Disease Patient Registry, or the Mayo Clinic Study of Aging...
September 11, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28918752/correlation-of-csf-flow-using-phase-contrast-mri-with-ventriculomegaly-and-csf-opening-pressure-in-mucopolysaccharidoses
#13
Amauri Dalla Corte, Carolina F M de Souza, Maurício Anés, Fabio K Maeda, Armelle Lokossou, Leonardo M Vedolin, Maria Gabriela Longo, Monica M Ferreira, Solanger G P Perrone, Olivier Balédent, Roberto Giugliani
BACKGROUND: Very little is known about the incidence and prevalence of hydrocephalus in patients with mucopolysaccharidoses (MPS). The biggest challenge is to distinguish communicating hydrocephalus from ventricular dilatation secondary to brain atrophy, because both conditions share common clinical and neuroradiological features. The main purpose of this study is to assess the relationship between ventriculomegaly, brain and cerebrospinal fluid (CSF) volumes, aqueductal and cervical CSF flows, and CSF opening pressure in MPS patients, and to provide potential biomarkers for abnormal CSF circulation...
September 18, 2017: Fluids and Barriers of the CNS
https://www.readbyqxmd.com/read/28916229/japanese-leigh-syndrome-case-treated-with-epi-743
#14
Takeshi Kouga, Mariko Takagi, Akihiko Miyauchi, Hiroko Shimbo, Mizue Iai, Sumimasa Yamashita, Kei Murayama, Matthew B Klein, Guy Miller, Tomohide Goto, Hitoshi Osaka
BACKGROUND: Leigh syndrome is a mitochondrial disease caused by respiratory chain deficiency, and there are no proven effective therapies. EPI-743 is a potent cellular oxidative stress protectant and results of clinical trials for mitochondrial diseases are accumulating. CASE: At 5months, a girl presented with the scarce eye movement and diminished muscle tone. She was diagnosed with Leigh encephalopathy from blood and cerebrospinal fluid lactate elevation and MRI findings...
September 12, 2017: Brain & Development
https://www.readbyqxmd.com/read/28915852/a-novel-frameshift-grn-mutation-results-in-frontotemporal-lobar-degeneration-with-a-distinct-clinical-phenotype-in-two-siblings-case-report-and-literature-review
#15
Takashi Hosaka, Kazuhiro Ishii, Takeshi Miura, Naomi Mezaki, Kensaku Kasuga, Takeshi Ikeuchi, Akira Tamaoka
BACKGROUND: Progranulin gene (GRN) mutations are major causes of frontotemporal lobar degeneration. To date, 68 pathogenic GRN mutations have been identified. However, very few of these mutations have been reported in Asians. Moreover, some GRN mutations manifest with familial phenotypic heterogeneity. Here, we present a novel GRN mutation resulting in frontotemporal lobar degeneration with a distinct clinical phenotype, and we review reports of GRN mutations associated with familial phenotypic heterogeneity...
September 15, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28914133/age-of-donor-of-human-mesenchymal-stem-cells-affects-structural-and-functional-recovery-after-cell-therapy-following-ischaemic-stroke
#16
Susumu Yamaguchi, Nobutaka Horie, Katsuya Satoh, Takeshi Ishikawa, Tsuyoshi Mori, Hajime Maeda, Yuhtaka Fukuda, Shunsuke Ishizaka, Takeshi Hiu, Yoichi Morofuji, Tsuyoshi Izumo, Noriyuki Nishida, Takayuki Matsuo
Cell transplantation therapy offers great potential to improve impairments after stroke. However, the importance of donor age on therapeutic efficacy is unclear. We investigated the regenerative capacity of transplanted cells focusing on donor age (young vs. old) for ischaemic stroke. The quantities of human mesenchymal stem cell (hMSC) secreted brain-derived neurotrophic factor in vitro and of monocyte chemotactic protein-1 at day 7 in vivo were both significantly higher for young hMSC compared with old hMSC...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28912283/reaction-time-is-negatively-associated-with-corpus-callosum-area-in-the-early-stages-of-cadasil
#17
S Delorme, F De Guio, S Reyes, A Jabouley, H Chabriat, E Jouvent
BACKGROUND AND PURPOSE: Reaction time was recently recognized as a marker of subtle cognitive and behavioral alterations in the early clinical stages of CADASIL, a monogenic cerebral small-vessel disease. In unselected patients with CADASIL, brain atrophy and lacunes are the main imaging correlates of disease severity, but MR imaging correlates of reaction time in mildly affected patients are unknown. We hypothesized that reaction time is independently associated with the corpus callosum area in the early clinical stages of CADASIL...
September 14, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28904986/sex-matters-repetitive-mild-traumatic-brain-injury-in-adolescent-rats
#18
David K Wright, Terence J O'Brien, Sandy R Shultz, Richelle Mychasiuk
OBJECTIVE: Whether sex differences contribute to the heterogeneity of mild traumatic brain injury (mTBI) and repeated mTBI (RmTBI) outcomes in adolescents is unknown. Therefore, this study examined changes in, and differences between, male and female rats following single mTBI and RmTBI. METHODS: Rats were given a single mTBI, RmTBI (i.e., 3x), or sham injuries. Injuries were administered using a lateral impact model that mimics forces common in human mTBI. After the final injury, rats underwent extensive behavioral testing to examine cognition, motor function, and anxiety- and depressive-like behavior...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28900819/a-homozygous-pigo-mutation-associated-with-severe-infantile-epileptic-encephalopathy-and-corpus-callosum-hypoplasia-but-normal-alkaline-phosphatase-levels
#19
Yoav Zehavi, Anja von Renesse, Etty Daniel-Spiegel, Yonatan Sapir, Luci Zalman, Ilana Chervinsky, Markus Schuelke, Rachel Straussberg, Ronen Spiegel
We describe two sisters from a consanguineous Arab family with global developmental delay, dystrophy, axial hypotonia, epileptic encephalopathy dominated by intractable complex partial seizures that were resistant to various anti-epileptic treatments. Dysmorphic features comprised low set ears, hypertelorism, upslanting palpebral fissures, a broad nasal bridge, and blue sclera with elongated eyelashes. Brain MRI in both children showed a corpus callosum hypoplasia that was evident already in utero and evolving cortical atrophy...
September 13, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28900724/hypothalamic-dysfunction-is-related-to-sleep-impairment-and-csf-biomarkers-in-alzheimer-s-disease
#20
Claudio Liguori, Agostino Chiaravalloti, Marzia Nuccetelli, Francesca Izzi, Giuseppe Sancesario, Andrea Cimini, Sergio Bernardini, Orazio Schillaci, Nicola Biagio Mercuri, Placidi Fabio
Hypothalamus is a key brain region regulating several essential homeostatic functions, including the sleep-wake cycle. Alzheimer's disease (AD) pathology affects nuclei controlling sleep-wake rhythm sited in this brain area. Since only post-mortem studies documented the relationship between hypothalamic atrophy and sleep-wake cycle impairment, we investigated in AD patients the possible hypothalamic in vivo alteration using 2-deoxy-2-(18F) fluoro-D-glucose ([18F]FDG) positron emission tomography ([18F]FDG PET), and its correlations with sleep impairment and cerebrospinal-fluid (CSF) AD biomarkers (tau proteins and β-amyloid42)...
September 12, 2017: Journal of Neurology
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