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Acute ataxia

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https://www.readbyqxmd.com/read/29784925/acrylamide-acute-neurotoxicity-in-adult-zebrafish
#1
Melissa Faria, Tamar Ziv, Cristian Gómez-Canela, Shani Ben-Lulu, Eva Prats, Karen Adriana Novoa-Luna, Arie Admon, Benjamin Piña, Romà Tauler, Leobardo Manuel Gómez-Oliván, Demetrio Raldúa
Acute exposure to acrylamide (ACR), a type-2 alkene, may lead to a ataxia, skeletal muscles weakness and numbness of the extremities in human and laboratory animals. In the present manuscript, ACR acute neurotoxicity has been characterized in adult zebrafish, a vertebrate model increasingly used in human neuropharmacology and toxicology research. At behavioral level, ACR-treated animals exhibited "depression-like" phenotype comorbid with anxiety behavior. At transcriptional level, ACR induced down-regulation of regeneration-associated genes and up-regulation of oligodendrocytes and reactive astrocytes markers, altering also the expression of genes involved in the presynaptic vesicle cycling...
May 21, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29773357/acute-transverse-myelitis-following-an-opsoclonus-myoclonus-syndrome-an-unusual-presentation
#2
Thomas Simon, Emmanuel Cheuret, Léa Fiedler, Catherine Mengelle, Eloïse Baudou, Kumaran Deiva
Opso-myoclonus syndrome (OMS) is a very rare and severe condition. Ataxia, opsoclonus, myoclonus and/or behavioral and sleeping disturbances define that autoimmune disorder syndrome which is paraneoplastic or triggered by an infection. Here, we report a 3 year-old immunocompetent boy who developed an atypical OMS which was later complicated by an acute transverse myelitis. Screening for neuroblastoma was negative and extensive infectious screening revealed an active HHV-6 infection confirmed by blood and cerebrospinal fluid PCR...
May 8, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#3
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29756269/genetic-and-clinical-features-of-chinese-patients-with-mitochondrial-ataxia-identified-by-targeted-next-generation-sequencing
#4
Hai-Lin Dong, Yin Ma, Quan-Fu Li, Yi-Chu Du, Lu Yang, Sheng Chen, Zhi-Ying Wu
AIM: To characterize the mutations in mitochondrial DNA (mtDNA) and mitochondrion-related nuclear genes (nDNA), and clinical features in Chinese patients with mitochondrial ataxia. METHODS: Targeted next-generation sequencing (NGS) technology was performed to screen the whole mtDNA sequence and nDNA genes in a cohort of 33 unrelated ataxia patients. RESULTS: A total of 5 pedigrees were finally genetically diagnosed as mitochondrial ataxia, with 3 pathogenic mutations (m...
May 13, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29740388/central-lesions-with-selective-semicircular-canal-involvement-mimicking-bilateral-vestibulopathy
#5
REVIEW
Luke Chen, G Michael Halmagyi
Bilateral vestibulopathy (BVP), which is due to peripheral lesions, may selectively involve certain semicircular canal (SCC). Recent eye movement recordings with search coil and video head impulse test (HIT) have provided insight in central lesions that can cause bilateral and selective SCC deficit mimicking BVP. Since neurological signs or ocular motor deficits maybe subtle or absent, it is critical to recognize central lesions correctly since there is prognostic and treatment implication. Acute floccular lesions cause bilateral horizontal SCC (HC) impairment while leaving vertical SCC function unaffected...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29735117/pediatric-ataxia-focus-on-chronic-disorders
#6
David R Lynch, Ashley McCormick, Kimberly Schadt, Elizabeth Kichula
Evaluation of a pediatric patient presenting with ataxia can be expensive and time consuming. Acute causes tend to have a clear developmental paradigm, but chronic presentations are more likely to be secondary to a genetic disorder, either one that primarily causes ataxia or that presents ataxia as one of a multitude of symptoms. Evaluation should focus on a quick diagnosis for those that have treatment options and for those that require other systemic monitoring. Friedreich ataxia is the most common, and genetic testing can easily confirm the suspicion...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29713105/progressive-non-familial-adult-onset-cerebellar-degeneration-an-unusual-occurrence-with-hashimoto-s-thyroiditis
#7
Raghavendra S Rao, Shubha Sheshadri, Dipanjan Bhattacharjee, Navin Patil, Karthik Rao
Progressive non-familial adult onset cerebellar degeneration has been rarely associated with hypothyroidism and is known to be reversible after therapy. We report a case of cerebellar atrophy in a 31 year old female whose detailed evaluation had revealed sub-clinical hypothyroidism secondary to autoimmune thyroiditis with a very high anti-TPO (anti-thyroid peroxidase) antibody levels. MRI (Magnetic Resonanace Imaging) of brain showed diffuse bilateral cerebellar atrophy. She was treated with thyroid hormone supplementation and after one year of follow up, cerebellar signs had disappeared completely with significant reduction in anti-TPO antibody levels...
March 13, 2018: Psychopharmacology Bulletin
https://www.readbyqxmd.com/read/29710021/-right-parietal-cerebral-infarction-with-symptoms-challenging-to-differentiate-between-alien-hand-sign-and-sensory-ataxia-a-case-report
#8
Takamichi Kanbayashi, Yudai Uchida, Keiichi Hokkoku, Masahiro Sonoo
We report the case of a 73-year-old right-handed female with a right parietal cerebral infarction and presented symptoms that were challenging to differentiate between alien hand sign (AHS) and sensory ataxia. She presented to our emergency department with chief complaints of abnormal involuntary movements and a feeling of foreignness on her left upper limb. The first neurological examination revealed left spatial neglect, left-side sensory impairment that included superficial and deep sensations, left limb-kinetic apraxia, and left limb ataxia...
April 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29696051/are-there-neurological-symptoms-in-type-1-of-gaucher-disease
#9
Mohammadreza Alaei, Narjes Jafari, Farzaneh Rohani, Farzad Ahmadabadi, Rezvan Azadi
Objective: Gaucher disease (GD) is a rare inborn error of metabolism, classified as a lipid storage disorders. This disease is caused by a deficiency in glucocerebrosidase enzyme. It has been classified according to the presence or absence of neurological symptoms into the following types: type 1 non-neuropathic, type 2 acute infantile neuropathic and type 3 or chronic neuropathic. We evaluated neurological symptoms in patients with GD1 and GD3 and compared both of these groups. Materials & Methods: Eleven patients were identified according to their clinical presentation and the presence of disease confirmed by genetic testing, from 2006-2016, at the Mofid Children Hospital Clinic, Tehran, Iran...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29695388/hypomorphic-citrullinaemia-due-to-mutated-ass1-with-episodic-ataxia
#10
Arushi Gahlot Saini, Savita Attri, N Sankhyan, Pratibha Singhi
Children with citrullinaemia commonly present in the neonatal period with life-threatening hyperammonaemia and progressive encephalopathy. Less often, 'hypomorphic' or mild late-onset childhood or adult-onset forms may be seen with intermittent neurological symptoms or acute crisis in pregnancy. We describe an 11-year-old boy with late-onset citrullinaemia manifesting as brief episodes of ataxia triggered by minor febrile illnesses, significant citrullinaemia, mild hyperammonaemia, normal neurological examination and mild cerebellar atrophy...
April 25, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29678716/surgical-management-of-medial-tentorial-meningioma-falcotentorial-and-torcular
#11
Andrea Talacchi, Antonio Biroli, Aurel Hasanbelliu, Francesca Locatelli
BACKGROUND: Falcotentorial meningiomas (FTM) stand out for their rarity, inconsistent definition, and surgical complexity. It is appropriate to deal with them in the context of medial tentorial meningiomas (MTM). METHODS: Clinical and radiological characteristics of MTM, comprising the typical features of FTM and tentorial meningioma (TM) along with surgical management, short- and long-term outcomes, are reported . RESULTS: FTM (n=16) were typically supratentorial, large, edematous tumors that caused mainly headache and hemianopia; TM (n=12) were infratentorial, smaller not edematous tumors that caused mainly headache and gait ataxia...
April 17, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29669602/cerebral-vasculitis-and-lateral-rectus-palsy-two-rare-central-nervous-system-complications-of-dengue-fever-two-case-reports-and-review-of-the-literature
#12
H M M Herath, J S Hewavithana, C M De Silva, O A R Kularathna, N P Weerasinghe
BACKGROUND: Dengue fever is a common mosquito-borne viral illness with a clinical spectrum ranging from a simple febrile illness to potentially life-threatening complications such as dengue hemorrhagic fever and dengue shock syndrome. Dengue infection can affect many organs, including the central nervous system. The neurological manifestations reported in dengue infections are meningitis, encephalitis, stroke, acute disseminated encephalomyelitis, and Guillain-Barré syndrome. CASE PRESENTATION: We report the cases of two interesting patients with confirmed dengue infection who presented with complications of possible central nervous system vasculitis and cranial nerve palsy...
April 19, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29644298/use-of-idarucizumab-for-dabigatran-reversal-emergency-department-experience-in-two-cases-with-subdural-haematoma
#13
Gail Edwards, Cristina Roman, Rondhir Jithoo, Biswadev Mitra
Introduction: Idarucizumab is the first effective humanized monoclonal antibody fragment developed specifically as a reversal agent for dabigatran, a Direct Oral Anticoagulant. Despite recent trials demonstrating reversal of clinically relevant bleeding, there is a paucity of data on use outside the trial setting. This manuscript describes the use of Idarucizumab to reverse dabigatran in two patients presenting to the emergency department of a major tertiary hospital with acute traumatic subdural haematomas (SDH)...
February 2018: Trauma Case Reports
https://www.readbyqxmd.com/read/29625811/further-characterization-of-capos-caos-syndrome-with-the-glu818lys-mutation-in-the-atp1a3-gene-a-case-report
#14
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Shinichi Hirose, Rika Hiraiwa, Yoshihiro Maegaki, Kousaku Ohno
A 38-year-old female patient experienced recurrent episodes of neurological deterioration during febrile illness at the age of 7 and 8 months, and 2, 4, and 37 years. Acute symptoms comprised unconsciousness, headache, abnormal ocular movements, flaccid paralysis with areflexia, ataxia, dysphagia, and movement disorders. Each episode of neurological deterioration was followed by partial recovery with residual symptoms of progressive disturbance of visual acuity with optic atrophy and hearing loss, moderate intellectual disability, strabismus, ophthalmoplegia, as well as fluctuating degree of gait ataxia, chorea, tremor, and myoclonus...
April 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29603827/differences-between-acute-onset-chronic-inflammatory-demyelinating-polyneuropathy-a-cidp-and-acute-inflammatory-demyelinating-polyneuropathy-aidp-in-adult-patients
#15
Lucas Alessandro, José M Pastor Rueda, Miguel Wilken, Luis A Querol Gutiérrez, Mariano Marrodán, Julián N Acosta, Alberto Rivero, Fabio Barroso, Mauricio F Farez
Acute Inflammatory Demyelinating Polyneuropathy (AIDP) and Acute-onset Chronic Inflammatory Demyelinating Polyneuropathy (A-CIDP) are conditions presenting overlapping clinical features during early stages (first 4 weeks), although the latter may progress after 8 weeks. The aim of this study was to identify predictive factors contributing to their differential diagnosis. Clinical records of adult patients with AIDP or A-CIDP diagnosed at our institution between January-2006 and July-2017 were retrospectively reviewed...
March 30, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29596284/a-case-of-wernicke-encephalopathy-developing-after-ileal-bypass-surgery
#16
Tülay Kamaşak, Sibel Kul, Mustafa Tuşat, Nezir Ozgun, Ali Cansu
Wernicke encephalopathy is an acute neurological problem resulting from thiamine deficiency and manifesting with mental confusion, oculomotor dysfunction, and ataxia. It is associated with alcohol dependence in adults. Preparatory factors include hyperemesis gravidarum, prolonged diarrhea, prolonged parental nutrition without vitamin support, absorption disorders, anorexia, cancer, and chemotherapy. Failure to consider the clinical findings and preparatory factors of this disease, which is rare in children, can delay diagnosis...
March 28, 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29575082/somatic-sprouts-of-the-purkinje-cells-in-a-patient-with-multiple-system-atrophy
#17
Kenji Sakai, Chiho Ishida, Yuko Kato-Motozaki, Atsuro Tagami, Kiyonobu Komai, Masahito Yamada
We describe the post mortem case of a 71-year-old Japanese woman diagnosed as having multiple system atrophy (MSA), showing somatic sprouting formation of Purkinje cells. The patient had suffered from frequent falling episodes and clumsiness of the left hand since the age of 67 years. Orthostatic hypotension and parkinsonism subsequently emerged. Typical neuropathological features of MSA, including degeneration of the striatum, pontine base and cerebellum with abundance of phosphorylated α-synuclein-positive neuronal and glial cytoplasmic and nuclear inclusions in the brain, were observed...
March 25, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29574241/acute-disseminated-encephalomyelitis-a-rare-post-malaria-neurological-complication-case-report-and-review-of-the-literature
#18
REVIEW
Joana Carreira, Maria Isabel Casella, Bianca Branco Ascenção, Nuno Pinto Luis, Ana Catarina Gonçalves, Ana Paula Brito, Joana Estalagem Sá, Mário Parreira, Delfim Lopes, José Poças
There are four neurological complications that can occur after malaria treatment at a time when the patient is aparasitaemic: delayed cerebellar ataxia, acute inflammatory demyelinating polyneuropathy, post-malaria neurological syndrome and acute disseminated encephalomyelitis (ADEM). The authors describe a case of a 54-year-old male who presented with encephalopathy and generalized seizures forty-three days after complete recovery from acute malaria by Plasmodium falciparum. Diagnosis of post-malaria ADEM was made based on the acute onset of the neurological symptoms, characteristic findings in magnetic resonance imaging of the brain and prompt response to steroid therapy...
March 21, 2018: Travel Medicine and Infectious Disease
https://www.readbyqxmd.com/read/29571875/familial-and-sporadic-chronic-progressive-degenerative-parietal-ataxia
#19
Ryuta Morihara, Toru Yamashita, Kentaro Deguchi, Tomoko Kurata, Emi Nomura, Kota Sato, Yumiko Nakano, Yasuyuki Ohta, Nozomi Hishikawa, Takeshi Ikeuchi, Masataka Kitaguchi, Koji Abe
BACKGROUND & OBJECTIVE: Parietal ataxia has been mainly reported as a consequence of acute ischemic stroke, while degenerative parietal ataxia has not been reported. METHODS: We investigated clinical characteristics, neuroimaging data, and genetic analysis of patients with cerebellar ataxia plus parietal atrophy. RESULTS: We identified seven patients, including five patients from two families, with chronic progressive cerebellar ataxia due to degenerative parietal atrophy but not stroke...
April 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29563947/mild-encephalopathy-with-a-reversible-splenial-lesion-in-a-girl-with-acute-pyelonephritis
#20
Jung Sook Yeom, Chung Mo Koo, Ji Sook Park, Ji-Hyun Seo, Eun Sil Park, Jae-Young Lim, Hyang-Ok Woo, Hee-Shang Youn
We report the case of a 12-year-old girl who had mild encephalopathy with a reversible splenial lesion (MERS) associated with acutepyelonephritis caused by Escherichia coli . The patient was admitted with a high fever, and she was diagnosed with acute pyelonephritis based on pyuria and the results of urine culture, which detected cefotaxime-sensitive E. coli . Although intravenous cefotaxime and tobramycin were administered, her fever persisted and her C-reactive protein level increased to 307 mg/L. On day 3 of admission, she demonstrated abnormal neuropsychiatric symptoms, such as delirium, ataxia, and word salad...
February 2018: Korean Journal of Pediatrics
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