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https://www.readbyqxmd.com/read/29775702/abnormal-sleep-architecture-and-hippocampal-circuit-dysfunction-in-a-mouse-model-of-fragile-x-syndrome
#1
Christine E Boone, Heydar Davoudi, Jon B Harrold, David J Foster
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and single-gene cause of autism spectrum disorder. The Fmr1 null mouse models much of the human disease including hyperarousal, sensory hypersensitivity, seizure activity, and hippocampus-dependent cognitive impairment. Sleep architecture is disorganized in FXS patients, but has not been examined in Fmr1 knockout (Fmr1-KO) mice. Hippocampal neural activity during sleep, which is implicated in memory processing, also remains uninvestigated in Fmr1-KO mice...
May 15, 2018: Neuroscience
https://www.readbyqxmd.com/read/29775450/-congenital-megacalycosis-in-a-girl-with-unilateral-renal-agenesis
#2
Agnieszka Szmigielska, Grażyna Krzemień, Anna Zacharzewska, Teresa Dudek-Warchoł, Stanisław Warchoł
Renal agenesis occurs in pediatric population with the incidence 1:500- 2000 children. It is more often diagnosed in boys and on the left side of the body. Renal agenesis may be isolated or it may be a part of complex malformation syndrome. Megacalycosis is a very rare anomaly of urinary tract associated with abnormal structure of the kidney pyramids. AIM: The aim of the study was to present for the first time in the medical literature the case of a girl with unilateral renal agenesis and megacalycosis...
April 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29722745/vertebral-artery-occlusion-causing-facial-colliculus-and-opalski-stroke-syndromes-simultaneously
#3
Saeed Alghamdi, Omar Ayoub, Nasser Alzahrani, Hussein Algahtani, Bader Shirah
Brainstem stroke syndromes refer to a group of vascular disorders that occur secondary to occlusion of small perforating arteries of the posterior circulation. Although such syndromes result in a characteristic clinical picture, they are challenging to localize. In practice, such syndromes are rarely seen in their pure form, and the clinical consequences of a given vascular lesion are probably less predictable than for arteries in the anterior circulation. If 2 or more brainstem strokes happen simultaneously, localization becomes much harder...
May 2018: Neurologist
https://www.readbyqxmd.com/read/29720792/preventing-neurophobia-remodeling-neurology-education-for-21-st-century-medical-students-through-effective-pedagogical-strategies-for-neurophilia
#4
REVIEW
Bhaskara P Shelley, Thomas V Chacko, Balakrishnan R Nair
Neurology has a reputation, particularly as a complex "head-to-toe" discipline for undergraduate medical students. Neurophobia syndrome, a global phenomenon, fundamentally stems from pedagogical deficiencies during the undergraduate curriculum, the lack of vertical integration between basic neurosciences and clinical bedside neurology, the lack of clinical reasoning exercises, cognitive heuristics, and clinical problem-solving, errors in diagnostic competence, and hyposkilia. This ultimately results in poor clinical competence and proficiency in clinical neurology and causes attrition in nurturing a passion for learning the neurology discipline...
January 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29720711/in-vitro-and-in-vivo-characterization-of-pcc0104005-a-novel-modulator-of-serotonin-dopamine-activity-as-an-atypical-antipsychotic-drug
#5
Yanan Xu, Xiaoyin Zhu, Hongbo Wang, Shanyue Sun, Xin Yue, Jingwei Tian
PCC0104005 is a novel drug candidate for treating schizophrenia that displays high affinity for serotonin, dopamine, and noradrenaline receptors, including partial agonism at dopamine D2 , D3 , D4 , serotonin 5-HT1A , and 5-HT2A receptors and antagonism at 5-HT2B , 5-HT6 , and 5-HT7 receptors. PCC0104005 blocks MK-801-induced hyperactivity in rats, consistent with the reduction in dopamine D2 receptor stimulation and increased dopamine release in the medial prefrontal cortex. PCC0104005 inhibits 5-HTP-induced head twitches in rats, due to its moderate affinity for human 5-HT2A receptors (Ki = 5...
May 2, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29718256/dscam-mutation-impairs-motor-cortex-network-dynamic-and-voluntary-motor-functions
#6
Olivier D Laflamme, Maxime Lemieux, Louise Thiry, Frédéric Bretzner
While it is well known that netrin-1 and its receptors UNC5 and UNC40 family members are involved in the normal establishment of the motor cortex and its corticospinal tract, less is known about its other receptor Down syndrome cell adherence molecule (DSCAM). DSCAM is expressed in the developing motor cortex, regulates axonal outgrowth of cortical neurons, and its mutation impairs the dendritic arborization of cortical neurons, thus suggesting that it might be involved in the normal development and functioning of the motor cortex...
April 27, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29685630/symptomatic-medulla-compression-by-vertebral-artery
#7
Leszek Lombarski, Przemysław Kunert, Marcin Skawiński, Marek Prokopienko, Zbigniew Lewandowski, Andrzej Marchel
OBJECTIVE: Vertebral artery medulla compression syndrome (VAMCS) is a very rare condition manifesting as different neurological focal deficits. The case of a 36-year-old male with symptomatic brainstem compression by vertebral artery (VA) treated by means of microvascular decompression (MVD) and a review of the literature is presented. CASE REPORT: On admission, a 36-year-old patient presented with hypoalgesia, hypothermesthesia and hemiparesis on the left side...
March 17, 2018: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29643636/atypical-presentation-of-posterior-reversible-encephalopathy-syndrome-two-cases
#8
Nishant Kumar, Ranju Singh, Neha Sharma, Aruna Jain
Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiological entity, first described in 1996. It is commonly associated with systemic hypertension, intake of immunosuppressant drugs, sepsis and eclampsia and preeclampsia. Headache, alteration in consciousness, visual disturbances and seizures are common manifestations of PRES. Signs of pyramidal tract involvement and motor dysfunction are uncommon clinical findings. However, clinical presentation is not diagnostic. On neuroimaging, lesions are characteristically found in parieto occipital region of the brain due to vasogenic edema...
January 2018: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/29609473/nutrition-and-husbandry-conditions-of-palearctic-tortoises-testudo-spp-in-captivity
#9
Thomas Bauer, Sven Reese, Petra Koelle
Mediterranean and Russian tortoises (Testudo spp.) are popular companion animals (pets), despite ongoing controversy concerning privately keeping reptiles. The arguments used during these controversial discussions have often been based on outdated facts. Therefore, a survey was developed to evaluate the current population structure, husbandry conditions, diet regime, and health status of Testudo species in captivity. More than 75% of the 1075 respondents housed their tortoises in an outdoor enclosure containing a greenhouse or cold frame, which is considered the most species-appropriate way of husbandry...
April 2, 2018: Journal of Applied Animal Welfare Science: JAAWS
https://www.readbyqxmd.com/read/29603387/genotype-phenotype-correlations-dystonia-and-disease-progression-in-spinocerebellar-ataxia-type-14
#10
Viorica Chelban, Sarah Wiethoff, Bjørn K Fabian-Jessing, Nourelhoda A Haridy, Alaa Khan, Stephanie Efthymiou, Esther B E Becker, Emer O'Connor, Joshua Hersheson, Katrina Newland, Allan Thomas Hojland, Pernille A Gregersen, Suzanne G Lindquist, Michael B Petersen, Jørgen E Nielsen, Michael Nielsen, Nicholas W Wood, Paola Giunti, Henry Houlden
BACKGROUND: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia. METHODS: Using next generation sequencing, we screened 194 families with autosomal dominant cerebellar ataxia and normal polyglutamine repeats. In-depth phenotyping was performed using validated clinical rating scales neuroimaging and electrophysiological investigations...
March 30, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29560583/treatment-with-chenodeoxycholic-acid-in-cerebrotendinous-xanthomatosis-clinical-neurophysiological-and-quantitative-brain-structural-outcomes
#11
Maria Del Mar Amador, Marion Masingue, Rabab Debs, Foudil Lamari, Vincent Perlbarg, Emmanuel Roze, Bertrand Degos, Fanny Mochel
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disease related to sterols metabolism. It affects both central and peripheral nervous systems but treatment with chenodeoxycholic acid (CDCA) has been reported to stabilize clinical scores and improve nerve conduction parameters. Few quantitative brain structural studies have been conducted to assess the effect of CDCA in CTX. METHODS AND RESULTS: We collected retrospectively clinical, neurophysiological, and quantitative brain structural data in a cohort of 14 patients with CTX treated by CDCA over a mean period of 5 years...
March 20, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29540554/major-vault-protein-a-candidate-gene-in-16p11-2-microdeletion-syndrome-is-required-for-the-homeostatic-regulation-of-visual-cortical-plasticity
#12
Jacque P K Ip, Ikue Nagakura, Jeremy Petravicz, Keji Li, Erik A C Wiemer, Mriganka Sur
Microdeletion of a region in chromosome 16p11.2 increases susceptibility to autism. Although this region contains exons of 29 genes, disrupting only a small segment of the region, which spans five genes, is sufficient to cause autistic traits. One candidate gene in this critical segment is MVP , which encodes for the major vault protein (MVP) that has been implicated in regulation of cellular transport mechanisms. MVP expression levels in MVP +/- mice closely phenocopy those of 16p11.2 mutant mice, suggesting that MVP +/- mice may serve as a model of MVP function in 16p11...
April 18, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29524657/novel-homozygous-gba2-mutation-in-a-patient-with-complicated-spastic-paraplegia
#13
Giulia Coarelli, Silvia Romano, Lorena Travaglini, Michela Ferraldeschi, Francesco Nicita, Maria Spadaro, Arianna Fornasiero, Marina Frontali, Marco Salvetti, Enrico Bertini, Giovanni Ristori
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non-neurological signs (i.e., complicated HSPs). The clinical variability of HSPs is associated with a wide genetic heterogeneity, with more than eighty causative genes known. Recently, next generation sequencing (NGS) has allowed increasing genetic definition in such a heterogeneous group of disorders...
May 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29515467/early-intervention-and-a-direction-of-novel-therapeutics-for-the-improvement-of-functional-outcomes-in-schizophrenia-a-selective-review
#14
REVIEW
Masayoshi Kurachi, Tsutomu Takahashi, Tomiki Sumiyoshi, Takashi Uehara, Michio Suzuki
Background: A recent review reported that the median proportion of patients recovering from schizophrenia was 13.5% and that this did not change over time. Various factors including the duration of untreated psychosis, cognitive impairment, negative symptoms, and morphological changes in the brain influence the functional outcome of schizophrenia. The authors herein reviewed morphological changes in the brain of schizophrenia patients, effects of early intervention, and a direction of developing novel therapeutics to achieve significant improvement of the functional outcome...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29491011/celecoxib-ameliorates-seizure-susceptibility-in-autosomal-dominant-lateral-temporal-epilepsy
#15
Lin Zhou, Liang Zhou, Li-da Su, Sheng-Long Cao, Ya-Jun Xie, Na Wang, Chong-Yu Shao, Ya-Nan Wang, Jia-Huan Zhou, John K Cowell, Ying Shen
Autosomal dominant lateral temporal epilepsy (ADLTE) is an inherited syndrome caused by mutations in the leucine-rich glioma inactivated 1 (LGI1) gene. It is known that glutamatergic transmission is altered in LGI1 mutant mice, and seizures can be reduced by restoring LGI1 function. Yet, the mechanism underlying ADLTE is unclear. Here, we propose that seizures in male LGI1 -/- mice are due to nonsynaptic epileptiform activity in cortical neurons. We examined the intrinsic excitability of pyramidal neurons in the temporal cortex of male LGI1 -/- mice and found that the voltage-gated K+ channel Kv1...
March 28, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29485402/alterations-of-in-vivo-ca1-network-activity-in-dp-16-1yey-down-syndrome-model-mice
#16
Matthieu Raveau, Denis Polygalov, Roman Boehringer, Kenji Amano, Kazuhiro Yamakawa, Thomas J McHugh
Down syndrome, the leading genetic cause of intellectual disability, results from an extra-copy of chromosome 21. Mice engineered to model this aneuploidy exhibit Down syndrome-like memory deficits in spatial and contextual tasks. While abnormal neuronal function has been identified in these models, most studies have relied on in vitro measures. Here, using in vivo recording in the Dp(16)1Yey model, we find alterations in the organization of spiking of hippocampal CA1 pyramidal neurons, including deficits in the generation of complex spikes...
February 27, 2018: ELife
https://www.readbyqxmd.com/read/29481897/development-related-aberrations-in-kv1-1-%C3%AE-subunit-exert-disruptive-effects-on-bioelectrical-activities-of-neurons-in-a-mouse-model-of-fragile-x-syndrome
#17
Pingping Zhu, Jialing Li, Liting Zhang, Zhanrong Liang, Bin Tang, Wei-Ping Liao, Yong-Hong Yi, Tao Su
Kv1.1, a Shaker homologue potassium channel, plays a critical role in homeostatic regulation of neuronal excitability. Aberrations in the functional properties of Kv1.1 have been implicated in several neurological disorders featured by neuronal hyperexcitability. Fragile X syndrome (FXS), the most common form of inherited mental retardation, is characterized by hyperexcitability in neural network and intrinsic membrane properties. The Kv1.1 channel provides an intriguing mechanistic candidate for FXS. We investigated the development-related expression pattern of the Kv1...
June 8, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29437050/motor-abnormalities-and-epilepsy-in-infants-and-children-with-evidence-of-congenital-zika-virus-infection
#18
André Pessoa, Vanessa van der Linden, Marshalyn Yeargin-Allsopp, Maria Durce Costa Gomes Carvalho, Erlane Marques Ribeiro, Kim Van Naarden Braun, Maureen S Durkin, Daniel M Pastula, Jazmyn T Moore, Cynthia A Moore
Initial reports of congenital Zika virus (ZIKV) infection focused on microcephaly at birth with severe brain anomalies; the phenotype has broadened to include microcephaly that develops after birth and neurodevelopmental sequelae. In this narrative review, we summarize medical literature describing motor abnormalities and epilepsy in infants with evidence of congenital ZIKV infection and provide information on the impact of these conditions. Specific scenarios are used to illustrate the complex clinical course in infants with abnormalities that are consistent with congenital Zika syndrome...
February 2018: Pediatrics
https://www.readbyqxmd.com/read/29427108/clinical-features-of-machado-joseph-disease
#19
Nuno Mendonça, Marcondes C França, António Freire Gonçalves, Cristina Januário
Machado-Joseph disease (MJD) also known as Spinocerebellar ataxia type 3, is a hereditary neurodegenerative disease associated with severe clinical manifestations and premature death. Although rare, it is the most common autosomal dominant spinocerebellar ataxia worldwide and has a distinct geographic distribution, reaching peak prevalence in certain regions of Brazil, Portugal and China. Due to its clinical heterogeneity, it was initially described as several different entities and as had many designations over the last decades...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29394516/ca1-pyramidal-neuron-gene-expression-mosaics-in-the-ts65dn-murine-model-of-down-syndrome-and-alzheimer-s-disease-following-maternal-choline-supplementation
#20
Melissa J Alldred, Helen M Chao, Sang Han Lee, Judah Beilin, Brian E Powers, Eva Petkova, Barbara J Strupp, Stephen D Ginsberg
Although there are changes in gene expression and alterations in neuronal density and afferent inputs in the forebrain of trisomic mouse models of Down syndrome (DS) and Alzheimer's disease (AD), there is a lack of systematic assessments of gene expression and encoded proteins within individual vulnerable cell populations, precluding translational investigations at the molecular and cellular level. Further, no effective treatment exists to combat intellectual disability and basal forebrain cholinergic neurodegeneration seen in DS...
April 2018: Hippocampus
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