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https://www.readbyqxmd.com/read/28080901/cerebellar-and-mesencephalon-neoplasia-in-a-nile-hipoppotamus-hippopotamus-amphibious
#1
Francesca Schiaffino, Samantha J Sander, Marcia E Pereira Bacares, Katie J Barnes, Matti Kiupel, Timothy Walsh, Suzan Murray
A 52-yr-old female Nile hippopotamus ( Hippopotamus amphibious ) was presented for acute onset anorexia, depression, lethargy, instability, and weakness in the pelvic limbs. Clinical signs were rapidly progressive, despite empiric therapy with anti-inflammatory medications, resulting in the death of the animal. Gross necropsy evaluation revealed two tan, firm masses in the cerebellum and mesencephalon and a single mass in the right cranial adrenal gland. All three masses had a similar histologic morphology, and immunohistochemical investigation confirmed the general diagnosis of an adenocarcinoma, but the exact cell of origin remains unclear...
December 2016: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28077397/relationships-between-flortaucipir-pet-tau-binding-and-amyloid-burden-clinical-diagnosis-age-and-cognition
#2
Michael J Pontecorvo, Michael D Devous, Michael Navitsky, Ming Lu, Stephen Salloway, Frederick W Schaerf, Danna Jennings, Anupa K Arora, Anne McGeehan, Nathaniel C Lim, Hui Xiong, Abhinay D Joshi, Andrew Siderowf, Mark A Mintun
The advent of tau-targeted positron emission tomography tracers such as flortaucipir ((18)F-AV-1451, also known as (18)F-T807) have made it possible to investigate the sequence of development of tau and amyloid-β in relationship to age, and to the development of cognitive impairment due to Alzheimer's disease. In this study, flortaucipir tau and florbetapir amyloid positron emission tomography were obtained for 217 subjects including 16 young and 58 older cognitively normal subjects, 95 subjects with mild cognitive impairment (Mini-Mental State Examination 24-30) and 48 subjects with clinically-defined possible or probable Alzheimer's disease (Mini-Mental State Examination >10)...
January 11, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28075185/cerebellar-heterogeneity-and-its-impact-on-pet-data-quantification-of-5-ht-receptor-radioligands
#3
Melanie Ganz, Ling Feng, Hanne Demant Hansen, Vincent Beliveau, Claus Svarer, Gitte M Knudsen, Douglas N Greve
In the quantification of positron emission tomography (PET) radiotracer binding, a commonly used method is reference tissue modeling (RTM). RTM necessitates a proper reference and a ubiquitous choice for G-protein coupled receptors is the cerebellum. We investigated regional differences in uptake within the grey matter of the cerebellar hemispheres (CH), the cerebellar white matter (CW), and the cerebellar vermis (CV) for five PET radioligands targeting the serotonin system. Furthermore, we evaluated the impact of choosing different reference regions when quantifying neocortical binding...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28050719/sudden-benzodiazepine-induced-resolution-of-post-operative-pediatric-cerebellar-mutism-syndrome-a-clinical-spect-study
#4
Francesco Nicita, Milena Paiano, Mauro Liberatore, Alberto Spalice, Paola Papoff, Mariacristina Ullo, Manolo Piccirilli, Anna Clerico, Amalia Schiavetti
Post-operative pediatric cerebellar mutism syndrome (PPCMS) is a clinical syndrome arising from cerebellar injury and characterized by absence of speech and other possible symptoms and signs. Rare reports described some benefit after administration of dopamine agonist therapy, but no treatment has proven efficacy. In this paper, we report on the dramatic, sudden resolution of PPCMS induced by midazolam administration in a boy who underwent posterior fossa surgery for choroid plexus papilloma of the fourth ventricle...
January 3, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28046822/su-f-i-17-white-matter-track-based-analysis-at-limbic-abnormalities-in-cognitive-impairment
#5
R Juh, T Suh, J Han, C Kim, C Oh
PURPOSE: Mild cognitive impairment with depression (MCID) is common and associated with disability and cognitive impairment, with high probability of relapse. Hypothesize that a sign of WM disintegration would be observed in MCID than MCI nondepression (MCIND), especially in frontal and limbic regions and patients with depression would show reduced GM density in the hippocampus, amygdala, anterior gyrus cingulate, and dorsolateral prefrontal cortex (DLPFC) and dorsomedial prefrontal cortex (DMPFC) the abnormalities of long association fiber tracts integrity are correlated with geriatric depression...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28041618/pyogenic-ventriculitis-and-ventricular-empyema-associated-with-staphylococcus-pseudintermedius-in-a-puppy
#6
S A Headley, L G Pretto-Giordano, D F Nóbrega, C S Altrão, L A Villas-Boas, A A Alfieri, A P F R L Bracarense
A 40-day-old male, blue heeler puppy with hindlimb ataxia, nystagmus, apathy, motor incoordination and hyperaesthesia of the forelimbs died 3 days after the onset of clinical signs. Significant gross findings included cerebellar herniation, cerebral oedema and dilation of the third and right lateral cerebral ventricles due to the accumulation of a purulent exudate. Histopathological examination revealed pyogenic ventriculitis and purulent meningoencephalitis. Pure colonies of a coagulase-positive Staphylococcus were isolated from the purulent cerebral exudate...
December 29, 2016: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/28030893/recent-advances-in-understanding-audiovestibular-loss-of-a-vascular-cause
#7
Hyun-Ah Kim, Hyung Lee
Acute audiovestibular loss is characterized by abrupt onset of prolonged (lasting days) vertigo and hearing loss. Acute ischemic stroke in the distribution of the anterior inferior cerebellar artery (AICA) is known to be the leading cause of acute audiovestibular loss. So far, eight subgroups of AICA territory infarction have been identified according to the patterns of audiovestibular dysfunctions, among which the most common pattern is the combined loss of auditory and vestibular functions. Unlike inner ear dysfunction of a viral cause , which can commonly present as an isolated vestibular (i...
December 12, 2016: Journal of Stroke
https://www.readbyqxmd.com/read/28018441/a-neonate-with-joubert-syndrome-presenting-with-symptoms-of-horner-syndrome
#8
Narae Lee, Sang-Ook Nam, Young Mi Kim, Yun-Jin Lee
Joubert syndrome (JS) is characterized by the "molar tooth sign" (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28017249/slowly-progressive-d-bifunctional-protein-deficiency-with-survival-to-adulthood-diagnosed-by-whole-exome-sequencing
#9
Takashi Matsukawa, Kagari Mano Koshi, Jun Mitsui, Taro Bannai, Miho Kawabe, Hiroyuki Ishiura, Yasuo Terao, Jun Shimizu, Keiko Murayama, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Jun Goto
d-Bifunctional protein (DBP) deficiency is an autosomal recessive disorder of peroxisomal fatty acid oxidation caused by mutations in HSD17B4. It is typically fatal by the age of two years with symptom onset during the neonatal period, and survival until late childhood is rare. We herein report the case of a patient with DBP deficiency surviving until adulthood, who showed severe sensorineural deafness, disturbances in language acquisition, slowly progressive cerebellar ataxia, and peripheral neuropathy. This patient, in whom findings of prior investigations were nondiagnostic, had been followed up as having an early-onset spinocerebellar degeneration of unknown etiology...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28008682/homozygous-ppt1-splice-donor-mutation-in-a-cane-corso-dog-with-neuronal-ceroid-lipofuscinosis
#10
A Kolicheski, H L Barnes Heller, S Arnold, R D Schnabel, J F Taylor, C A Knox, T Mhlanga-Mutangadura, D P O'Brien, G S Johnson, J Dreyfus, M L Katz
A 10-month-old spayed female Cane Corso dog was evaluated after a 2-month history of progressive blindness, ataxia, and lethargy. Neurologic examination abnormalities indicated a multifocal lesion with primarily cerebral and cerebellar signs. Clinical worsening resulted in humane euthanasia. On necropsy, there was marked astrogliosis throughout white matter tracts of the cerebrum, most prominently in the corpus callosum. In the cerebral cortex and midbrain, most neurons contained large amounts of autofluorescent storage material in the perinuclear area of the cells...
December 23, 2016: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28007901/a-rat-model-of-ataxia-telangiectasia-evidence-for-a-neurodegenerative-phenotype
#11
Hazel Quek, John Luff, KaGeen Cheung, Sergei Kozlov, Magtouf Gatei, C Soon Lee, Mark C Bellingham, Peter G Noakes, Yi Chieh Lim, Nigel L Barnett, Steven Dingwall, Ernst Wolvetang, Tomoji Mashimo, Tara L Roberts, Martin F Lavin
Ataxia-telangiectasia (A-T), an autosomal recessive disease caused by mutations in the ATM gene is characterised by cerebellar atrophy and progressive neurodegeneration which has been poorly recapitulated in Atm mutant mice. Consequently, pathways leading to neurodegeneration in A-T are poorly understood. We describe here the generation of an Atm knockout rat model that does not display cerebellar atrophy but instead paralysis and spinal cord atrophy, reminiscent of that seen in older patients and milder forms of the disorder...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28007838/a-missense-variant-in-kcnj10-in-belgian-shepherd-dogs-affected-by-spongy-degeneration-with-cerebellar-ataxia-sdca1
#12
Nico Mauri, Miriam Kleiter, Michael Leschnik, Sandra Högler, Elisabeth Dietschi, Michaela Wiedmer, Joëlle Dietrich, Diana Henke, Frank Steffen, Simone Schuller, Corinne Gurtner, Nadine Stokar-Regenscheit, Donal O'Toole, Thomas Bilzer, Christiane Herden, Anna Oevermann, Vidhya Jagannathan, Tosso Leeb
Spongy degeneration with cerebellar ataxia (SDCA) is a severe neurodegenerative disease with monogenic autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed. We performed a genetic investigation in six families and seven isolated cases of Malinois dogs with signs of cerebellar dysfunction. Linkage analysis revealed an unexpected genetic heterogeneity within the studied cases. The affected dogs from four families and one isolated case shared a ~1.4 Mb common homozygous haplotype segment on chromosome 38...
December 22, 2016: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28006860/paraneoplastic-cerebellar-degeneration-and-lambert-eaton-myasthenia-in-a-patient-with-merkel-cell-carcinoma-and-voltage-gated-calcium-channel-antibodies
#13
Lucia Pavolucci, Giulia Giannini, Maria Pia Giannoccaro, Maria Pia Foschini, Bethan Lang, Patrizia Avoni, Paolo Tinuper, Angela Vincent, Rocco Liguori
INTRODUCTION: Merkel cell carcinoma is a rare cutaneous, aggressive tumor. Although it shares many neuroendocrine features with small cell lung carcinoma, it has only occasionally been reported with paraneoplastic neurological syndromes. METHODS: A healthy 67 year-old man developed acute ataxia, vertigo, and nausea. Subsequently he also developed dysarthria, diplopia, xerostomia, fatigability and progressive anorexia. He underwent a full diagnostic workup and was found to have a high titer of voltage-gated calcium channel antibodies in serum and cerebrospinal fluid, neurophysiological findings compatible with Lambert-Eaton myasthenia and neurological signs compatible with cerebellar degeneration...
December 22, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/28003105/motor-cortex-plasticity-can-indicate-vulnerability-to-motor-fluctuation-and-high-l-dopa-need-in-drug-na%C3%A3-ve-parkinson-s-disease
#14
Asha Kishore, Praveen James, Syam Krishnan, Lydia Yahia-Cherif, Sabine Meunier, Traian Popa
INTRODUCTION: Motor cortex plasticity is reported to be decreased in Parkinson's disease in studies which pooled patients in various stages of the disease. Whether the early decrease in plasticity is related to the motor signs or is linked to the future development of motor complications of treatment is unclear. The aim of the study was to test if motor cortex plasticity and its cerebellar modulation are impaired in treatment-naïve Parkinson's disease, are related to the motor signs of the disease and predict occurrence of motor complications of treatment...
December 13, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28001274/language-behavior-and-neurodevelopment-in-joubert-syndrome-a-case-report
#15
Dionísia Aparecida Cusin Lamônica, Camila da Costa Ribeiro, Antonio Richieri-Costa, Célia Maria Giacheti
The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS)...
November 2016: CoDAS
https://www.readbyqxmd.com/read/27980752/novel-compound-heterozygous-mutation-in-sacs-gene-leads-to-a-milder-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-arsacs-in-a-finnish-family
#16
Johanna Palmio, Mikko Kärppä, Peter Baumann, Sini Penttilä, Jukka Moilanen, Bjarne Udd
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder outside Quebec causing childhood-onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T, in SACS gene. The mutations segregated with the disease.
December 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27974938/spontaneous-vertebral-artery-dissection-with-multiple-supratentorial-and-infratentorial-acute-infarcts-in-the-posterior-circulation-case-report
#17
Cristea I, Popa C
The article represents a case of a young patient with atypical clinical and paraclinical presentation of vertebral artery dissection by multiple cerebral infarcts, localized at the supratentorial and infratentorial levels in the posterior circulation. A case of a 21-year-old man, without a history of trauma in the cervical area or at the cranial level, without recent chiropractic maneuvers or practicing a sport, which required rapid, extreme, rotational movements of the neck, was examined. He presented to the emergency room with nausea, numbness of the left limbs, dysarthria, and incoordination of walking, with multiple objective signs at the neurological examination, which revealed right vertebral artery subacute dissection after the paraclinical investigations...
July 2016: Journal of Medicine and Life
https://www.readbyqxmd.com/read/27974932/correlations-between-the-semiologic-changes-and-the-imaging-aspects-in-the-lateral-bulbar-infarction
#18
Cristea I, Popa C
The study aimed to evaluate the correlations between the clinical and paraclinical data in the lateral bulbar infarction, benefiting from the access to the semiologic characteristics of a group studied and the MRI angiography, without a contrast agent, through the 3D TOF technique combined with MIP, as an imaging technique for the evaluation of the arterial lesion. The study group included 20 patients with lateral bulbar infarction, 14 men, and 6 women aged between 21 and 80 years, the mean age being 56, 9 years, who were enrolled in the study in the period 2012 and 2014, following the admission in the National Institute of Neurology and Neurovascular Diseases...
July 2016: Journal of Medicine and Life
https://www.readbyqxmd.com/read/27959436/novel-cc2d2a-compound-heterozygous-mutations-cause-joubert-syndrome
#19
Daimin Xiao, Chunli Lv, Zhimin Zhang, Mingsong Wu, Xiang Zheng, Lei Yang, Xueying Li, Guan Wu, Jindong Chen
Joubert syndrome (JS) is an autosomal recessive disorder, which is characterized by hypotonia, ataxia, psychomotor delay, and variable occurrences of oculomotor apraxia and neonatal breathing abnormalities. JS is clinically and genetically heterogeneous. The present study investigated a typical JS family. The 'molar tooth sign' was observed in the proband through magnetic resonance imaging. Other symptoms of JS include cerebellar vermis hypoplasia/dysplasia, oculomotor apraxia and intellectual disability. High‑throughput sequencing revealed that JS was caused by coiled‑coil and C2 domain containing 2A (CC2D2A) compound heterozygous mutations...
January 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27958603/a-connection-between-neurovascular-conflicts-within-the-cerebellopontine-angle-and-vestibular-neuritis-a-case-controlled-cohort-study
#20
B Loader, I Linauer, S Korkesch, I Krammer-Effenberger, V Zielinski, N Schibany, A Kaider, E Vyskocil, D Tscholakoff, P Franz
This retrospective, observer blinded case-control study aims to compare the prevalence of neurovascular conflicts (NVCs) of the vestibulocochlear nerve and the anterior inferior cerebellar artery (AICA) in patients presenting with clinical signs of acute vestibular neuritis with and without subsequent objective vestibular function loss (VFL). 58 acute cases of clinically suspected acute vestibular neuritis were investigated with same day cranial MRI at a tertiary referral centre and compared to 61 asymptomatic controls...
October 2016: Acta Otorhinolaryngologica Italica
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