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https://www.readbyqxmd.com/read/28820279/mri-and-clinical-characteristics-of-suspected-cerebrovascular-accident-in-nine-cats
#1
Danielle E Whittaker, Randi Drees, Elsa Beltran
Objectives Cerebrovascular accidents (CVAs) are infrequently reported in cats. To date, clinical characteristics, including lesion localisation and MRI findings, have only been reported in two cats. The aim of the current study is to document MRI findings in cats presenting with CVAs over an 11 year period. Cases were reviewed according to initial clinical presentation, subsequent physical and neurological findings, predisposing systemic disease and short- and long-term (when available) outcome with a view to identifying any typical pattern in disease occurrence...
August 1, 2017: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/28819077/-gluten-ataxia-anti-transglutaminase-6-antibody-as-a-new-biomarker
#2
Kenji Sato, Kazunori Nanri
Gluten-related disorders (GRDs) are conditions that develop in response to the common trigger of gluten ingestion and manifest as a variety of clinical symptoms. GRDs have been considered rare in Asian countries, including Japan, because of lower consumption of wheat products than in Europe and the U.S.A. and differences in genetic background. Recently, however, GRDs, such as celiac disease and gluten ataxia, have been reported in Japan, albeit sporadically and their presence is now recognized in this country...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28819072/-overview-of-hereditary-spinocerebellar-ataxias-in-japan
#3
Masayoshi Tada, Akio Yokoseki, Osamu Onodera
Hereditary spinocerebellar degenerations (SCD) are a group of neurodegenerative disorders characterized by slowly progressive ataxia associated with non-cerebellar neurological signs and symptoms. In the Japanese population, dominantly inherited SCDs are much more common than recessively inherited or X-linked SCDs. The most common dominantly inherited SCD in Japan, as well as in many other countries, is Machado-Joseph disease, also known as spinocerebellar ataxia type 3 (MJD/SCA3). MJD/SCA3 is frequently accompanied by non-cerebellar symptoms, including progressive external ophthalmoplegia, pyramidal signs, dystonia, rigidity, dysarthria, and distal muscle atrophies...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28801086/slowly-progressive-leukodystrophy-in-an-adolescent-male-with-phosphoglycerate-kinase-deficiency
#4
Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi
We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood. Clumsiness in walking and writing became obvious at ∼10years of age. Evaluations performed by us on the 18-year-old patient confirmed the presence of pyramidal tract signs, increased muscle tone, and generalized dystonia...
August 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28781913/nursing-review-section-of-surgical-neurology-international-evaluation-of-cervical-disc-disease-and-when-surgery-is-warranted
#5
REVIEW
Nancy E Epstein, Renee D Hollingsworth
BACKGROUND: Patients with cervical disc disease may present with radiculopathy (root compression), myelopathy (cord compression), or myeloradiculopathy. These complaints must be correlated with x-ray, magnetic resonance (MR) imaging, and computed tomographic (CT) scans. Although most patients can be managed nonsurgically, those with significant neurological deficits and larger disc herniations may require surgery. METHODS: The symptoms of cervical radiculopathy include pain radiating down one or both arms, while myelopathy may result in more diffuse numbness tingling or weakness in the upper and/or lower extremities...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28781912/nursing-review-section-of-surgical-neurology-international-part-1-lumbar-disc-disease
#6
Nancy E Epstein, Renee D Hollingsworth
BACKGROUND: Patients with lumbar disc disease may present with low back pain, pain that radiates down into the lower extremity (radiculopathy), and leg pain that increases with ambulation (neurogenic claudication). Patients may first undergo diagnostic studies [(magnetic resonance imaging (MRI) and computed tomographic (CT) examinations] to determine whether there is any significant nerve root or thecal sac compression. METHODS: Increasingly, patients with low back pain with/without radiculopathy are being screened by nurses rather than by neurologists or neurosurgeons/orthopedists...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28768533/progression-of-pathology-in-pink1-deficient-mouse-brain-from-splicing-via-ubiquitination-er-stress-and-mitophagy-changes-to-neuroinflammation
#7
Sylvia Torres-Odio, Jana Key, Hans-Hermann Hoepken, Júlia Canet-Pons, Lucie Valek, Bastian Roller, Michael Walter, Blas Morales-Gordo, David Meierhofer, Patrick N Harter, Michel Mittelbronn, Irmgard Tegeder, Suzana Gispert, Georg Auburger
BACKGROUND: PINK1 deficiency causes the autosomal recessive PARK6 variant of Parkinson's disease. PINK1 activates ubiquitin by phosphorylation and cooperates with the downstream ubiquitin ligase PARKIN, to exert quality control and control autophagic degradation of mitochondria and of misfolded proteins in all cell types. METHODS: Global transcriptome profiling of mouse brain and neuron cultures were assessed in protein-protein interaction diagrams and by pathway enrichment algorithms...
August 2, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28765018/takotsubo-cardiomyopathy-triggered-by-venous-air-embolism-during-craniotomy-in-sitting-position-a-case-report
#8
Florian Raimann, Christian Senft, Jörg Honold, Kai Zacharowski, Volker Seifert, Jan Mersmann
BACKGROUND: Here we present a case of a stress induced cardiomyopathy (TakoTsubo cardiomyopathy) caused by a venous air embolism during a craniotomy in sitting position. CASE DESCRIPTION: A 69-year old female patient was admitted to the neurosurgical department and scheduled for elective resection of a cerebellar metastasis in sitting position. After craniotomy and opening of the posterior fossa a venous air embolism was detected via transesophageal echocardiography...
July 29, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28759510/cerebellar-stroke-a-missed-diagnosis
#9
Diane C Berry, Amber Rafferty, Kathleen Tiu, Timothy F Platt-Mills
Cerebellar strokes account for less than 10% of all strokes but lead to significantly poor outcomes. Cerebellar strokes that are initially missed have a mortality rate of 40%, and half of the patients who survive have long-term deficits. The patient's history may provide clues that point to a cerebellar stroke. Signs and symptoms include vertigo, headache, vomiting and ataxia. It is important to note the presence of stroke risk factors, such as a history of strokes or transient ischemic attacks, diabetes mellitus, hypertension, hypercholesterolemia, advanced age, atrial fibrillation, and cigarette smoking...
July 2017: Advanced Emergency Nursing Journal
https://www.readbyqxmd.com/read/28750785/cerebellar-cortical-abiotrophy-in-young-labrador-retrievers
#10
Chandreyee Sen, Ashwani Kumar Sharma, Charanjit Singh Randhawa, Kuldip Gupta
Cerebellar abiotrophy is a hereditary degenerative disorder of the central nervous system in humans and animals. Four male and one female Labrador-retriever pups were presented with clinical signs of head swaying with intention tremor, loss of target oriented movement, wide base stance, forelimb hypermetria, and hindlimb ataxia leading to falling off during ambulation. On histopathologic examination of cerebellum, cerebellar cortical abiotrophy was confirmed with extensive loss of Purkinje cells, diminution of granular layer, relative thickening and foliar gliosis in white matter...
March 2017: Topics in Companion Animal Medicine
https://www.readbyqxmd.com/read/28747280/the-evolving-definition-of-essential-tremor-what-are-we-dealing-with
#11
Elan D Louis
BACKGROUND: Although essential tremor (ET) is commonly encountered in clinical practice, historically, there has been considerable disagreement as how to best define it, and now with a growing sense of its clinical complexity, how to best encapsulate it. Here, I draw attention to five issues of current uncertainty. METHODS: A PubMed search conducted on June 19, 2017 crossed "essential tremor" with 9 second search terms (e.g., definition, diagnosis). RESULTS: There are several major issues of clinical and diagnostic uncertainty...
July 8, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28746835/genetic-ataxia-telangiectasia-porcine-model-phenocopies-the-multisystemic-features-of-the-human-disease
#12
Rosanna Beraldi, David K Meyerholz, Alexei Savinov, Attila D Kovács, Jill M Weimer, Jordan A Dykstra, Ryan D Geraets, David A Pearce
Ataxia telangiectasia (AT) is a progressive multisystem autosomal recessive disorder caused by mutations in the AT-mutated (ATM) gene. Early onset AT in children is characterized by cerebellar degeneration, leading to motor impairment. Lung disease and cancer are the two most common causes of death in AT patients. Accelerated thymic involution may contribute to the cancer, and recurrent and/or chronic respiratory infections may be a contributing factor to lung disease in AT. AT patients have fertility issues, are highly sensitive to ionizing radiation and they present oculocutaneous telangiectasia...
July 23, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28744254/metabolic-characterization-of-a-novel-ror%C3%AE-knockout-mouse-model-without-ataxia
#13
Cyrielle Billon, Sadichha Sitaula, Thomas P Burris
The retinoic acid receptor-related receptor α (RORα) is a nuclear receptor that plays an important role in regulation of metabolism and the immune system. Genetic deletion of the receptor yields mice with significant cerebellar developmental issues associated with severe ataxia. Although many metabolic studies have been performed in these models, the impaired locomotor activity of these mice is known to affect their normal mobility and feeding behaviors. This creates some difficulty in interpretation of the role of RORα in models of metabolic disease where feeding and muscle function is a critical component of the pathophysiology...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28701995/cerebellar-dysfunction-in-multiple-sclerosis
#14
REVIEW
Alastair Wilkins
Multiple sclerosis (MS) commonly affects the cerebellum causing acute and chronic symptoms. Cerebellar signs contribute significantly to clinical disability, and symptoms such as tremor, ataxia, and dysarthria are particularly difficult to treat. Increasing knowledge concerning the pathophysiology of cerebellar disease in MS from human postmortem studies, experimental models, and clinical trials has raised the hope that cerebellar symptoms will be better treated in the future.
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28687453/cerebellar-stroke-presenting-with-isolated-dizziness-brain-mri-in-136-patients
#15
Michael D Perloff, Nimesh S Patel, Carlos S Kase, Anuja U Oza, Barbara Voetsch, Jose R Romero
OBJECTIVE: To evaluate occurrence of cerebellar stroke in Emergency Department (ED) presentations of isolated dizziness (dizziness with a normal exam and negative neurological review of systems). METHODS: A 5-year retrospective study of ED patients presenting with a chief complaint of "dizziness or vertigo", without other symptoms or signs in narrative history or on exam to suggest a central nervous system lesion, and work-up included a brain MRI within 48h. Patients with symptoms commonly peripheral in etiology (nystagmus, tinnitus, gait instability, etc...
June 22, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28680780/immediate-remote-cerebellar-hemorrhage-and-seizure-following-revision-lumbosacral-fusion
#16
Alvin Y Chan, Jeffrey P Mullin, Edward Benzel, William Bingaman
Cerebellar hemorrhage (CH) is a rare but devastating complication following spine surgery. It is associated with a compromise to dura integrity and typically has a delayed post-operative onset. Here, we describe a patient who suffered a CH that presented with a generalized tonic-clonic (GTC) seizure immediately after a revision lumbar fusion. The patient did not regain consciousness from anesthesia prior to the hemorrhage. There are no reports indicating that CHs can occur abruptly following a spine surgery...
May 30, 2017: Curēus
https://www.readbyqxmd.com/read/28673510/eye-movements-in-essential-tremor-patients-with-parkinsonian-and-cerebellar-signs
#17
Magdalena Wójcik-Pędziwiatr, Elżbieta Mirek, Monika Rudzińska-Bar, Andrzej Szczudlik
Apart from intention tremor essential tremor (ET) patients may display other cerebellar signs, like dysmetria or tandem gait disturbances as well as parkinsonian signs like resting tremor, cogwheel sign, subtle bradykinesia. Previous reports claimed the occurrence of the eye movement abnormalities characteristic for dysfunction of cerebellar dorsal vermis in ET patients with concomitant cerebellar signs. There are no previous reports evaluating the eye movement abnormalities in ET patients with concomitant parkinsonian signs...
May 17, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28669454/neurophysiological-studies-on-atypical-parkinsonian-syndromes
#18
REVIEW
Matteo Bologna, Antonio Suppa, Flavio Di Stasio, Antonella Conte, Giovanni Fabbrini, Alfredo Berardelli
There have been a relatively large number of experimental investigations using neurophysiological techniques in patients with atypical parkinsonian syndromes (APs), including progressive supranuclear palsy, cortico-basal syndrome and multiple system atrophy. Earlier studies focused on the startle, blink and trigemino-cervical reflexes and showed several brainstem abnormalities. Studies using transcranial magnetic stimulation have revealed a number of abnormalities in primary motor cortex and inter-hemispheric connectivity...
June 27, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28668775/towards-an-early-clinical-diagnosis-of-sporadic-cjd-vv2-ataxic-type
#19
Simone Baiardi, Anna Magherini, Sabina Capellari, Veronica Redaelli, Anna Ladogana, Marcello Rossi, Fabrizio Tagliavini, Maurizio Pocchiari, Giorgio Giaccone, Piero Parchi
INTRODUCTION: Sporadic Creutzfeldt-Jakob disease (sCJD) includes a broad spectrum of clinical-pathological subtypes, which complicates the clinical differential diagnosis with other rapidly progressive neurological syndromes. AIM: To provide a better characterisation of clinical features and results of diagnostic investigations, especially at an early disease stage, in patients with sCJDVV2, the second most common sCJD subtype. METHODS: We evaluated neurological symptoms/signs, and results of brain diffusion-weighted resonance imaging (DW-MRI), electroencephalographic recordings (EEG) and cerebrospinal fluid (CSF) biomarker studies in 120 patients with a definite (n=93) or probable (n=27) diagnosis of sCJDVV2...
July 1, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28658676/a-novel-homozygous-sacs-mutation-identified-by-whole-exome-sequencing-in-a-consanguineous-family-with-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#20
Hui Zeng, Jian-Guang Tang, Yi-Feng Yang, Zhi-Ping Tan, Jie-Qiong Tan
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a hereditary neurological disorder mostly manifested with a classical triad: progressive early-onset cerebellar ataxia, lower limb pyramidal signs, and peripheral neuropathy. We employed whole-exome sequencing and bioinformatics to identify the genetic cause in an ARSACS patient from a consanguineous family. Based on whole-exome sequences of the patient and her healthy parents, a novel homozygous deletion variant (NM_014363: c.9495_9508del; p...
2017: Cytogenetic and Genome Research
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