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https://www.readbyqxmd.com/read/29786852/evolution-of-lobar-abnormalities-of-cerebral-glucose-metabolism-in-41-children-with-drug-resistant-epilepsy
#1
Tuhina Govil-Dalela, Ajay Kumar, Michael E Behen, Harry T Chugani, Csaba Juhász
OBJECTIVE: We analyzed long-term changes of lobar glucose metabolic abnormalities in relation to clinical seizure variables and development in a large group of children with medically refractory epilepsy. METHODS: Forty-one children (25 males) with drug-resistant epilepsy had a baseline positron emission tomography (PET) scan at a median age of 4.7 years; the scans were repeated after a median of 4.3 years. Children with progressive neurological disorders or space-occupying lesion-related epilepsy and those who had undergone epilepsy surgery were excluded...
May 22, 2018: Epilepsia
https://www.readbyqxmd.com/read/29786763/mir-124-promotes-proliferation-and-neural-differentiation-of-neural-stem-cells-through-targeting-dact1-and-activating-wnt-%C3%AE-catenin-pathways
#2
Shujie Jiao, Yaling Liu, Yaobing Yao, Junfang Teng
Neural stem cells (NSCs) are multipotent and undifferentiated cells with the potential to differentiate into neuronal lineages and gliocytes. NSCs have the ability to generate and regenerate the brain, indicating the possibility of cell-based therapies for neurological disorders. miR-124 has been demonstrated as a modulator in the survival, expansion, and differentiation of NSCs. However, the underlying molecular mechanisms of miR-124 in NSC development are still far from being understood. The expressions of miR-124, dishevelled binding antagonist of beta-catenin 1 (DACT1), ki-67, Nestin, β-tubulin III, glial fibrillary acidic protein (GFAP), β-catenin, cyclinD1, and glycogen synthase kinase-3β (GSK-3β) were examined by qRT-PCR or western blot...
May 21, 2018: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/29786697/imaging-glutathione-depletion-in-the-rat-brain-using-ascorbate-derived-hyperpolarized-mr-and-pet-probes
#3
Hecong Qin, Valerie N Carroll, Renuka Sriram, Javier E Villanueva-Meyer, Cornelius von Morze, Zhen Jane Wang, Christopher A Mutch, Kayvan R Keshari, Robert R Flavell, John Kurhanewicz, David M Wilson
Oxidative stress is a critical feature of several common neurologic disorders. The brain is well adapted to neutralize oxidative injury by maintaining a high steady-state concentration of small-molecule intracellular antioxidants including glutathione in astrocytes and ascorbic acid in neurons. Ascorbate-derived imaging probes for hyperpolarized 13 C magnetic resonance spectroscopy and positron emission tomography have been used to study redox changes (antioxidant depletion and reactive oxygen species accumulation) in vivo...
May 21, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29786451/annexin-a2-is-a-robo4-ligand-that-modulates-arf6-activation-associated-cerebral-trans-endothelial-permeability
#4
Wenlu Li, Zhigang Chen, Jing Yuan, Zhanyang Yu, Chongjie Cheng, Qiuchen Zhao, Lena Huang, Katherine A Hajjar, Zhong Chen, Eng H Lo, Haibin Dai, Xiaoying Wang
Blood-brain barrier (BBB) disruption in neurological disorders remains an intractable problem with limited therapeutic options. Here, we investigate whether the endothelial cell membrane protein annexin A2 (ANXA2) may play a role in reducing trans-endothelial permeability and maintaining cerebrovascular integrity after injury. Compared with wild-type mice, the expression of cerebral endothelial junctional proteins was reduced in E15.5 and adult ANXA2 knockout mice, along with increased leakage of small molecule tracers...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29785705/association-of-gabaa-receptor-gene-with-epilepsy-syndromes
#5
Musadiq Ahmad Bhat, Sameer Ahmad Guru, Rashid Mir, Ajaz Ahmad Waza, Mariyam Zuberi, Mamta Pervin Sumi, Shaam Bodeliwala, Vinod Puri, Alpana Saxena
GABA has always been an inviting target in the etiology and treatment of epilepsy. The GABRA1, GABRG2, and GABRD genes provide instructions for making α1, ϒ2, and δ subunits of GABAA receptor protein respectively. GABAA is considered as one of the most important proteins and has found to play an important role in many neurological disorders. We explored the association of GABAA receptor gene mutation/SNPs in JME and LGS patients in Indian population. A total of 100 epilepsy syndrome patients (50 JME and 50 LGS) and 100 healthy control subjects were recruited and analyzed by AS-PCR and RFLP-PCR techniques...
May 21, 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29785673/the-impact-of-transcranial-direct-current-stimulation-tdcs-on-bipolar-depression-mania-and-euthymia-a-systematic-review-of-preliminary-data
#6
Clément Dondé, Nicholas H Neufeld, Pierre A Geoffroy
The neurobiological basis of bipolar disorders (BD) has received increased attention and several brain regions and brain circuits have been correlated with clinical symptoms. These brain regions and circuits may represent targets for neuromodulation techniques such as transcranial Direct Current Stimulation (tDCS). We systematically reviewed the literature to explore the risks and benefits of tDCS in BD and examined all mood states. Following the PRISMA guidelines, a systematic literature search using several databases was performed from April 2002 to June 2017...
May 21, 2018: Psychiatric Quarterly
https://www.readbyqxmd.com/read/29784971/normalized-spatial-complexity-analysis-of-neural-signals
#7
Huibin Jia, Yanwei Li, Dongchuan Yu
The spatial complexity of neural signals, which was traditionally quantified by omega complexity, varies inversely with the global functional connectivity level across distinct region-of-interests, thus provides a novel approach in functional connectivity analysis. However, the measures in omega complexity are sensitive to the number of neural time-series. Here, normalized spatial complexity was suggested to overcome the above limitation, and was verified by the functional near-infrared spectroscopy (fNIRS) data from a previous published autism spectrum disorder (ASD) research...
May 21, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29784875/a-human-specific-truncated-%C3%AE-7-nicotinic-receptor-subunit-assembles-with-full-length-%C3%AE-7-and-forms-functional-receptors-with-different-stoichiometries
#8
Matías Lasala, Jeremías Corradi, Ariana Bruzzone, María Del Carmen Esandi, Cecilia Bouzat
The cholinergic α7 nicotinic receptor gene, CHRNA7, encodes a subunit that forms the homopentameric α7 receptor, involved in learning and memory. In humans, exons 5-10 in CHRNA7 are duplicated and fused to the FAM7A genetic element, giving rise to the hybrid gene CHRFAM7A. Its product, dupα7, is a truncated subunit lacking part of the N-terminal extracellular ligand-binding domain and is associated with neurological disorders, including schizophrenia, and immunomodulation.We combined dupα7 expression on mammalian cells with patch clamp recordings to understand its functional role...
May 21, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29784823/continuous-intrathecal-orexin-delivery-inhibits-cataplexy-in-a-murine-model-of-narcolepsy
#9
Mahesh K Kaushik, Kosuke Aritake, Aya Imanishi, Takashi Kanbayashi, Tadashi Ichikawa, Tetsuo Shimizu, Yoshihiro Urade, Masashi Yanagisawa
Narcolepsy-cataplexy is a chronic neurological disorder caused by loss of orexin (hypocretin)-producing neurons, associated with excessive daytime sleepiness, sleep attacks, cataplexy, sleep paralysis, hypnagogic hallucinations, and fragmentation of nighttime sleep. Currently, human narcolepsy is treated by providing symptomatic therapies, which can be associated with an array of side effects. Although peripherally administered orexin does not efficiently penetrate the blood-brain barrier, centrally delivered orexin can effectively alleviate narcoleptic symptoms in animal models...
May 21, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29784659/united-states-of-amnesia-rescuing-memory-loss-from-diverse-conditions
#10
EDITORIAL
Clara Ortega-de San Luis, Tomás J Ryan
Amnesia - the loss of memory function - is often the earliest and most persistent symptom of dementia. It occurs as a consequence of a variety of diseases and injuries. These include neurodegenerative, neurological or immune disorders, drug abuse, stroke or head injuries. It has both troubled and fascinated humanity. Philosophers, scientists, physicians and anatomists have all pursued an understanding of how we learn and memorise, and why we forget. In the last few years, the development of memory engram labelling technology has greatly impacted how we can experimentally study memory and its disorders in animals...
May 18, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29784561/parkinson-s-disease-phenotype-is-influenced-by-the-severity-of-the-mutations-in-the-gba-gene
#11
Avner Thaler, Noa Bregman, Tanya Gurevich, Tamara Shiner, Yonatan Dror, Ofir Zmira, Ziv Gan-Or, Anat Bar-Shira, Mali Gana-Weisz, Avi Orr-Urtreger, Nir Giladi, Anat Mirelman
OBJECTIVE: Mutations in the glucocerebrosidase (GBA) gene are divided into mild and severe (mGBA, sGBA) based on their contribution to the phenotype of Gaucher disease (GD) among homozygotes. We conducted a longitudinal analysis of Parkinson's disease (PD) patients carrying mutations in the GBA gene to better characterize genotype-phenotype correlations. METHODS: Patients underwent a comprehensive assessment of medical, neurological, cognitive and non-motor functions...
May 17, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29784239/paraneoplastic-syndromes-in-ophthalmology
#12
REVIEW
A Bussat, S Langner-Lemercier, A Salmon, F Mouriaux
Paraneoplastic syndromes involving the visual system are a heterogeneous group of disorders occurring in the setting of systemic malignancy. They are unrelated to local tumor invasion or metastasis and unexplained by nutritional, metabolic, infectious or iatrogenic causes. The presence of antibodies may aid in the diagnosis of a paraneoplastic syndrome, although this is not an absolute requirement. Chorioretinal involvement is seen in CAR (cancer-associated retinopathy) syndrome, MAR (melanoma-associated retinopathy) syndrome, paraneoplastic vitelliform maculopathy, and bilateral diffuse uveal melanocytic proliferation...
May 18, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29784083/a-homozygous-loss-of-function-camk2a-mutation-causes-growth-delay-frequent-seizures-and-severe-intellectual-disability
#13
Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade
Calcium/calmodulin-dependent protein kinase II (CAMK2) plays fundamental roles in synaptic plasticity that underlies learning and memory. Here, we describe a new recessive neurodevelopmental syndrome with global developmental delay, seizures and intellectual disability. Using linkage analysis and exome sequencing, we found that this disease maps to chromosome 5q31.1-q34 and is caused by a biallelic germline mutation in CAMK2A . The missense mutation, p.His477Tyr is located in the CAMK2A association domain that is critical for its function and localization...
May 22, 2018: ELife
https://www.readbyqxmd.com/read/29783690/echinacoside-an-inestimable-natural-product-in-treatment-of-neurological-and-other-disorders
#14
REVIEW
Jingjing Liu, Lingling Yang, Yanhong Dong, Bo Zhang, Xueqin Ma
Echinacoside (ECH), a natural phenylethanoid glycoside, was first isolated from Echinacea angustifolia DC. (Compositae) sixty years ago. It was found to possess numerous pharmacologically beneficial activities for human health, especially the neuroprotective and cardiovascular effects. Although ECH showed promising potential for treatment of Parkinson's and Alzheimer's diseases, some important issues arose. These included the identification of active metabolites as having poor bioavailability in prototype form, the definite molecular signal pathways or targets of ECH with the above effects, and limited reliable clinical trials...
May 18, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29783067/motor-retraining-more-for-functional-movement-disorders-outcomes-from-a-one-week-multidisciplinary-rehabilitation-program
#15
Alexandra Jacob, Darryl Kaelin, Abbey Roach, Craig Ziegler, Kathrin LaFaver
BACKGROUND: Functional Movement Disorders (FMD) are conditions of abnormal motor control thought to be caused by psychological factors. These disorders are commonly seen in neurological practice and prognosis is often poor. No consensus treatment guidelines have been established, however the role of physical therapy in addition to psychotherapy has increasingly been recognized. This study reports patient outcomes from a multidisciplinary FMD treatment program using motor retraining (MoRe) strategies...
May 18, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29782953/electrodermal-reactivity-to-emotional-stimuli-in-healthy-subjects-and-patients-with-disorders-of-consciousness
#16
Jacques Luauté, Anne Dubois, Lizette Heine, Chloé Guironnet, Ariane Juliat, Valérie Gaveau, Barbara Tillmann, Fabien Perrin
OBJECTIVES: After a coma, one major challenge is the detection of awareness in patients with disorders of consciousness. In some patients, the only manifestation indicative of awareness is an appropriate emotional response. Preferred music is a powerful medium to elicit emotions and auto-biographical memory. Furthermore, music has been shown to improve cognitive functions both in healthy subjects and patients with neurological impairment. We hypothesized that signs of awareness could be enhanced in some patients with disorders of consciousness under appropriate emotional stimulation such as preferred music and also probably preferred odors...
May 18, 2018: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29782625/use-of-rituximab-and-risk-of-re-hospitalization-for-children-with-neuromyelitis-optica-spectrum-disorder
#17
Sabrina Gmuca, Rui Xiao, Pamela F Weiss, Amy T Waldman, Jeffrey S Gerber
Background: Treatment algorithms for neuromyelitis optica spectrum disorder (NMOSD) vary, and sparse data exist regarding the impact of initial treatments on disease course. We aimed to determine whether administration of rituximab during first hospitalization reduces 1-year readmission rates. Methods: We conducted a retrospective cohort study of subjects with NMOSD using the Pediatric Health Information System database from 2005-2015. Subjects were ages 1 to 21 years who received glucocorticoids and an ICD-9-CM code indicating neuromyelitis optica (NMO) during first hospitalization...
April 2018: Multiple Sclerosis and Demyelinating Disorders
https://www.readbyqxmd.com/read/29782383/genetic-testing-of-xy-newborns-with-a-suspected-disorder-of-sex-development
#18
Malika Alimussina, Louise Ann Diver, Ruth McGowan, Syed Faisal Ahmed
PURPOSE OF REVIEW: The current review focuses on the neonatal presentation of disorders of sex development, summarize the current approach to the evaluation of newborns and describes recent advances in understanding of underlying genetic aetiology of these conditions. RECENT FINDINGS: Several possible candidate genes as well as other adverse environmental factors have been described as contributing to several clinical subgroups of 46,XY DSDs. Moreover, registry-based studies showed that infants with suspected DSD may have extragenital anomalies and in 46,XY cases, being small for gestational age (SGA), cardiac and neurological malformations are the commonest concomitant conditions...
May 17, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29782307/cutaneous-manifestations-of-tuberous-sclerosis
#19
Mirjana Bakić, Marina Ratković, Branka Gledović, Balsa Vujović, Danilo Radunović, Vera Babić, Vladimir Prelević
Dear Editor, Tuberous sclerosis (TS) is an autosomal dominant multisystem disease, which occurs due to genetically determined hyperplasia of ectodermal and mesodermal cells. Clinical manifestations present on the skin and in the nervous system, kidneys, heart, and other organs. Recent studies estimate the incidence of TS at 1/6000 to 1/10,000 live births, and a prevalence in the general population of approximately 1 in 20,000 (1). There are two different genetic loci responsible for TS: 9q34 (TSC1-hamartin) and 16p13...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29781731/neuropsychologists-as-primary-care-providers-of-cognitive-health-a-novel-comprehensive-cognitive-wellness-service-delivery-model
#20
Patricia A Pimental, John B O'Hara, Jessica L Jandak
By virtue of their extensive knowledge base and specialized training in brain-behavior relationships, neuropsychologists are especially poised to execute a unique broad-based approach to overall cognitive wellness and should be viewed as primary care providers of cognitive health. This article will describe a novel comprehensive cognitive wellness service delivery model including cognitive health, anti-aging, lifelong wellness, and longevity-oriented practices. These practice areas include brain-based cognitive wellness, emotional and spiritually centric exploration, and related multimodality health interventions...
July 2018: Applied Neuropsychology. Adult
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