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https://www.readbyqxmd.com/read/28537352/is-pseudotumor-cerebri-an-unusual-expression-of-chiari-syndrome-a-case-report-and-review-of-the-literature
#1
Paolo Pacca, Roberto Altieri, Francesco Zenga, Diego Garbossa, Alessandro Ducati, Michele Lanotte
The Chiari I malformation (CM-I) is a developmental alteration of the posterior cranial fossa (PCF), radiographically defined as the descent of the cerebellar tonsils = 5 mm below the foramen magnum (FM) inside the cervical canal. Headache is the most frequent symptom associated with CM-I. The association of CM-I and neurological symptoms configures with Chiari syndrome. A rare symptom associated with Chiari syndrome is intracranial hypertension syndrome with cephalea and papilloedema-the typical findings of pseudotumor cerebri (PTC)...
May 24, 2017: Surgical Technology International
https://www.readbyqxmd.com/read/28527404/relevance-of-non-specific-mri-features-in-multiple-system-atrophy
#2
Sunil Pradhan, Ruchika Tandon
OBJECTIVES: Rarity of specific MRI features like 'hot-cross bun' sign and 'hyperintense putamen rim' reduce diagnostic utility of MRI in MSA. We therefore, studied some non-specific MRI features in addition to the specific ones, to find their diagnostic utility. PATIENTS AND METHODS: Clinical and MRI features of 53 indoor and outdoor patients with MSA were analyzed in the context of its Parkinsonian (MSA-P) and cerebellar (MSA-C) variants. RESULTS: Of 53 cases (mean age: 59...
May 10, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28508964/tmem67-mutations-found-in-a-case-of-joubert-syndrome-with-renal-hypodysplasia
#3
Yumiko Komatsu, Toshifumi Suzuki, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Kunimasa Yan
Joubert syndrome is a rare inherited cerebellar ataxia with the dysgenesis of the cerebellar vermis, called the molar tooth sign. The combination of a large number of causative genes, more than 27, and the various clinical features involving multiple organs has established many genotypic-phenotypic correlations in Joubert syndrome. TMEM67 is one of the genes that are relatively well established as contributing to Joubert syndrome with liver involvement. Here, we report a 2-month-old boy who was initially treated for urinary tract infection, which further led to the diagnosis of Joubert syndrome accompanied by renal hypodysplasia with two different mutations: c...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28501821/genetic-and-clinical-characteristics-of-nefl-related-charcot-marie-tooth-disease
#4
Alejandro Horga, Matilde Laurà, Zane Jaunmuktane, Nivedita U Jerath, Michael A Gonzalez, James M Polke, Roy Poh, Julian C Blake, Yo-Tsen Liu, Sarah Wiethoff, Conceição Bettencourt, Michael Pt Lunn, Hadi Manji, Michael G Hanna, Henry Houlden, Sebastian Brandner, Stephan Züchner, Michael Shy, Mary M Reilly
OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL). METHODS: Combined analysis of newly identified patients with NEFL-related CMT and all previously reported cases from the literature. RESULTS: Five new unrelated patients with CMT carrying the NEFL mutations P8R and N98S and the novel variant L311P were identified...
May 13, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28499971/selective-reward-affects-the-rate-of-saccade-adaptation
#5
Yoshiko Kojima, Robijanto Soetedjo
In this study we tested whether a selective reward could affect the adaptation of saccadic eye movements in monkeys. We induced the adaptation of saccades by displacing the target of a horizontal saccade vertically as the eye moved toward it, thereby creating an apparent vertical dysmetria. The repeated upward target displacement caused the originally horizontal saccade to gradually deviate upward over the course of several hundred trials. We induced this directional adaptation in both right- and leftward saccades in every experiment (n=20)...
May 10, 2017: Neuroscience
https://www.readbyqxmd.com/read/28497568/neuropsychological-phenotypes-of-76-individuals-with-joubert-syndrome-evaluated-at-a-single-center
#6
Angela C Summers, Joseph Snow, Edythe Wiggs, Alexander G Liu, Camilo Toro, Andrea Poretti, Wadih M Zein, Brian P Brooks, Melissa A Parisi, Sara Inati, Dan Doherty, Meghana Vemulapalli, Jim C Mullikin, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
Joubert syndrome (JS) is a genetically heterogeneous ciliopathy characterized by hypo-dysplasia of the cerebellar vermis, a distinct hindbrain/midbrain malformation (molar tooth sign), and intellectual disability. We evaluated the neuropsychological profiles of 76 participants with JS in the context of molecular genetics and clinical covariates. Evaluations included neuropsychological testing, structured parental interviews, DNA sequencing, brain magnetic resonance imaging (MRI), electroencephalography (EEG), ophthalmologic examination, and assessment for renal and hepatic disease...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28493355/consideration-of-difficulties-and-exit-strategies-in-a-case-of-face-allotransplantation-resulting-in-failure
#7
Özlenen Özkan, Ömer Özkan, Umuttan Doğan, Vural Taner Yılmaz, Hilmi Uysal, Levent Ündar, Ebru Apaydın Doğan, Ozan Salim, Anı Çinpolat, Atilla Ramazanoglu
We describe the first rescue procedure in a case of total face allotransplantation. The recipient was a 54-year-old man with severe disfigurement of the entire face following an accidental gunshot injury 5 years previously. The large defect included the maxilla, mandible, and mid-face. Full face procurement was performed from a multiorgan cadaveric donor and was allotransplanted to the recipient. The post-transplant induction immunosuppressive regimen included ATG combined with tacrolimus, mycophenolate mofetil, and prednisone, while maintenance was provided by the last three of these...
May 11, 2017: Microsurgery
https://www.readbyqxmd.com/read/28491457/a-case-of-acute-acquired-obstructive-hydrocephalus-in-a-cat-with-suspected-ischaemic-cerebellar-infarct
#8
Francesca Raimondi, Filipa Lourinho, Harry Scott, Nadia Shihab
CASE SUMMARY: A case of acquired acute obstructive hydrocephalus that developed as a complication of an ischaemic infarct in the vascular territory of the rostral cerebellar artery is described in an adult domestic shorthair cat. The clinical findings, diagnostic investigations, treatment and prognosis are reported. MRI findings are described in detail. RELEVANCE AND NOVEL INFORMATION: This is the first report of obstructive hydrocephalus as a complication of an ischaemic infarct in the region of the rostral cerebellar artery in a cat...
January 2017: JFMS Open Rep
https://www.readbyqxmd.com/read/28491446/severe-muscle-fasciculations-and-tremor-in-a-cat-with-hypochloraemic-metabolic-alkalosis-secondary-to-duodenal-obstruction
#9
Alison Jukes, Marcus Gunew, Rhett Marshall
CASE SUMMARY: An 18-month-old, female spayed, Australian Mist cat presented with a 24 h history of muscle tremors and inappetence progressing to collapse with generalised muscle fasciculations. The cat was diagnosed with a hypochloraemic metabolic alkalosis due to a duodenal foreign body found to be a trichobezoar at coeliotomy. The cat made a complete recovery after enterotomy to remove the trichobezoar, with cessation of neuromuscular clinical signs and normalisation of its electrolyte and acid-base imbalances...
January 2017: JFMS Open Rep
https://www.readbyqxmd.com/read/28486224/long-term-neuropathological-changes-associated-with-cerebral-palsy-in-a-nonhuman-primate-model-of-hypoxic-ischemic-encephalopathy
#10
Ryan M McAdams, Bobbi Fleiss, Christopher Traudt, Leslie Schwendimann, Jessica M Snyder, Robin L Haynes, Niranjana Natarajan, Pierre Gressens, Sandra E Juul
BACKGROUND: Cerebral palsy (CP) is the most common motor disability in childhood, with a worldwide prevalence of 1.5-4/1,000 live births. Hypoxic-ischemic encephalopathy (HIE) contributes to the burden of CP, but the long-term neuropathological findings of this association remain limited. METHODOLOGY: Thirty-four term Macaca nemestrina macaques were included in this long-term neuropathological study: 9 control animals delivered by cesarean section and 25 animals with perinatal asphyxia delivered by cesarean section after 15-18 min of umbilical cord occlusion (UCO)...
May 10, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28484820/-vertigo-and-dizziness-in-the-emergency-room
#11
REVIEW
A Zwergal, K Möhwald, M Dieterich
Vertigo and dizziness are among the most common chief complaints in the emergency department. Etiologies can be categorized into three subgroups: neurootological (vestibular), medical (especially cardiovascular, metabolic), and psychiatric disorders. The diagnostic approach in the emergency department is based on a systematic analysis of case history (type, time course of symptoms, modulating factors, associated symptoms), clinical examination of the vestibular, ocular motor, and cerebellar systems (head impulse test, nystagmus, skew deviation, positioning maneuver, test of gait and stance), as well as a basal monitoring (vital signs, 12-lead ECG, blood tests)...
May 8, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28483396/early-diagnosis-of-capos-syndrome-before-acute-onset-ataxia-review-of-the-literature-and-a-new-family
#12
Anna Duat Rodriguez, Michaela Prochazkova, Saturnino Santos Santos, Oscar Rubio Cabezas, Veronica Cantarin Extremera, Luis Gonzalez-Gutierrez-Solana
BACKGROUND: CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far. In all cases, the mutation c.2452G>A (p.Glu818Lys) in the ATP1A3 gene was identified. Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes. The acute symptoms improve within days, but most patients show slow progression afterward...
June 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28473800/central-positional-nystagmus-a-systematic-literature-review
#13
REVIEW
Nora K Macdonald, Diego Kaski, Yougan Saman, Amal Al-Shaikh Sulaiman, Amal Anwer, Doris-Eva Bamiou
OBJECTIVE: To provide a systematic review of the clinical and radiological features of lesion-induced central positional nystagmus (CPN) and identify salient characteristics that differentiate central from peripheral positional nystagmus (PN). METHODS: Systematic literature search according to the preferred reporting items for systematic reviews and meta-analysis. RESULTS: A total of 82 patients from 28 studies met the participants intervention, comparison, outcomes, and study designs criteria for inclusion...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28458825/a-locally-destructive-completely-asymptomatic-c1-root-schwannoma-with-base-of-skull-invasion-a-case-report
#14
David Pisani, Christian Camenzuli, Josephine Psaila, Snežana Božanić, Jean Calleja-Agius
Patients with C1 nerve root schwannomas usually present with signs relating to nerve root compression. However, asymptomatic presentations have never been reported. A healthy, 37-year-old female was referred in view of a slow-growing lump in the left posterosuperior aspect of the neck. The lump was asymptomatic and neurological examination was normal. Magnetic resonance imaging revealed a left C1 nerve root tumour, extending around the C1 vertebra and compressing the thecal sac. The tumour had invaded the basiocciput and was impinging on the left cerebellar hemispheric dura...
February 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28442211/leigh-like-neuroimaging-features-associated-with-new-biallelic-mutations-in-opa1
#15
Anna Rubegni, Tiziana Pisano, Giacomo Bacci, Alessandra Tessa, Roberta Battini, Elena Procopio, Sabrina Giglio, Rosa Pasquariello, Filippo Maria Santorelli, Renzo Guerrini, Claudia Nesti
Behr syndrome is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation. Recently, some cases were reported to be caused by biallelic mutations in OPA1. We describe an 11-year-old girl (Pt1) and a 7-year-old boy (Pt2) with cognitive delay, ataxic gait and clinical signs suggestive of a peripheral neuropathy, with onset in early infancy. In Pt1 ocular fundus examination revealed optic disk pallor whereas Pt2 exhibited severe optic atrophy...
April 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28438224/early-strong-intrathecal-inflammation-in-cerebellar-type-multiple-system-atrophy-by-cerebrospinal-fluid-cytokine-chemokine-profiles-a-case-control-study
#16
Ryo Yamasaki, Hiroo Yamaguchi, Takuya Matsushita, Takayuki Fujii, Akio Hiwatashi, Jun-Ichi Kira
BACKGROUND: The pathology of multiple system atrophy cerebellar-type (MSA-C) includes glial inflammation; however, cerebrospinal fluid (CSF) inflammatory cytokine profiles have not been investigated. In this study, we determined CSF cytokine/chemokine/growth factor profiles in MSA-C and compared them with those in hereditary spinocerebellar ataxia (SCA). METHODS: We collected clinical data and CSF from 20 MSA-C patients, 12 hereditary SCA patients, and 15 patients with other non-inflammatory neurological diseases (OND), and measured 27 cytokines/chemokines/growth factors using a multiplexed fluorescent bead-based immunoassay...
April 24, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28434958/microsurgical-resection-following-failed-gamma-knife-radiosurgery-of-papillary-tumor-of-the-pineal-gland
#17
Anil Nanda, Piyush Kalakoti, Devi Prasad Patra, Tanmoy Maiti, Hai Sun
Primary papillary tumors of the pineal region (PTPR) are rare entities with distinct histopathological characteristics. Most common surgical approaches include the supra-cerebellar infratentorial corridor or the occipital interhemispheric approach. Gamma knife radiosurgery (GKRS) is an acceptable treatment modality for parenchymal tumors of the pineal gland, and often used as a primary treatment modality for asymptomatic and indolent lesions, and as an adjunct to surgical resection. In this presentation, we describe the surgical nuances of posterior interhemispheric approach in an elderly male with a previously failed empirical GKRS...
April 18, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28431631/neuroimaging-findings-in-joubert-syndrome-with-c5orf42-gene-mutations-a-milder-form-of-molar-tooth-sign-and-vermian-hypoplasia
#18
Mikako Enokizono, Noriko Aida, Tetsu Niwa, Hitoshi Osaka, Takuya Naruto, Kenji Kurosawa, Chihiro Ohba, Toshifumi Suzuki, Hirotomo Saitsu, Tomohide Goto, Naomichi Matsumoto
PURPOSE: Little is known regarding neuroimaging-genotype correlations in Joubert syndrome (JBTS). To elucidate one of these correlations, we investigated the neuroimaging findings of JBTS patients with C5orf42 mutations. MATERIALS AND METHODS: Neuroimaging findings in five JBTS patients with C5orf42 mutations were retrospectively assessed with regard to the infratentorial and supratentorial structures on T1-magnetization prepared rapid gradient echo (MPRAGE), T2-weighted images, and color-coded fractional anisotropy (FA) maps; the findings were compared to those in four JBTS patients with mutations in other genes (including three with AHI1 and one with TMEM67 mutations)...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28415165/progressive-supranuclear-gaze-palsy-with-predominant-cerebellar-ataxia-a-case-series-with-videos
#19
Zheyu Xu, Tchoyoson C C Lim, Wing Lok Au, Louis C S Tan
Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2...
May 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28405535/signet-cell-in-the-brain-a-case-report-of-leptomeningeal-carcinomatosis-as-the-presenting-feature-of-gastric-signet-cell-cancer
#20
Saeed Ali, Muhammad Talha Khan, Evgeny A Idrisov, Aadil Maqsood, Fnu Asad-Ur-Rahman, Khalid Abusaada
Malignant infiltration of pia and arachnoid mater, referred to as leptomeningeal carcinomatosis (LMC), is a rare complication of gastric carcinoma. The most common underlying malignancy in patients with LMC are leukemia, breast cancer, lymphoma, and lung cancer. We report a case of gastric adenocarcinoma that presented with LMC in the absence of overt gastrointestinal signs or symptoms. A 56-year-old Hispanic woman presented to the hospital with a three-week history of intermittent headaches and visual blurring...
March 7, 2017: Curēus
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