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Acute ataxia

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https://www.readbyqxmd.com/read/28808226/atr-inhibition-facilitates-targeting-of-leukemia-dependence-on-convergent-nucleotide-biosynthetic-pathways
#1
Thuc M Le, Soumya Poddar, Joseph R Capri, Evan R Abt, Woosuk Kim, Liu Wei, Nhu T Uong, Chloe M Cheng, Daniel Braas, Mina Nikanjam, Peter Rix, Daria Merkurjev, Jesse Zaretsky, Harley I Kornblum, Antoni Ribas, Harvey R Herschman, Julian Whitelegge, Kym F Faull, Timothy R Donahue, Johannes Czernin, Caius G Radu
Leukemia cells rely on two nucleotide biosynthetic pathways, de novo and salvage, to produce dNTPs for DNA replication. Here, using metabolomic, proteomic, and phosphoproteomic approaches, we show that inhibition of the replication stress sensing kinase ataxia telangiectasia and Rad3-related protein (ATR) reduces the output of both de novo and salvage pathways by regulating the activity of their respective rate-limiting enzymes, ribonucleotide reductase (RNR) and deoxycytidine kinase (dCK), via distinct molecular mechanisms...
August 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28805579/nonmotor-manifestations-of-wilson-s-disease
#2
Samar Biswas, Neelanjana Paul, Shyamal K Das
Wilson disease (WD) is an autosomal genetic disorder characterized by excessive copper deposition initially in liver (hepatic variant) followed by brain (neuropsychiatric variant) and other organs such as cornea and kidney due to defect in biliary copper excretion. Predominant presentations of neuropsychiatric variant are extrapyramidal motor dysfunctions such as dystonias, Parkinsonism, choreoathetosis, tremor, and ataxias. Nonmotor symptoms (NMS) can appear before clinical disease expression and during ongoing disease process...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28777266/ataxia-and-headache-in-a-child-a-case-of-acute-cerebellar-infarction
#3
Kathryn M Hewett, Brett Lorenzetti, Benjamin F Jackson
A 4-year-old female patient presents to the pediatric emergency department with acute onset of ataxia and occipital headache. Initial investigation, including computed tomography imaging, failed to demonstrate any focal neurologic lesion. Subsequent studies, however, reveal an acute thrombosis of the superior cerebellar artery. Further work up identified the likely causative factor to be a heterozygous mutation at the methylene tetrahydrofolate reductase gene. In this case report, we will discuss the work-up of pediatric ataxia, the evaluation and management of cerebrovascular accidents in children, and the association between stroke and mutation of the methylene tetrahydrofolate reductase gene...
August 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28766925/posterior-column-ataxia-with-retinitis-pigmentosa-coexisting-with-sensory-autonomic-neuropathy-and-leukemia-due-to-the-homozygous-p-pro221ser-flvcr1-mutation
#4
Marco Castori, Silvia Morlino, Martin Ungelenk, Davide Pareyson, Ettore Salsano, Paola Grammatico, Emanuela Tolosano, Ingo Kurth, Deborah Chiabrando
FLVCR1 encodes for a ubiquitous heme exporter, whose recessive mutations cause posterior column ataxia with retinitis pigmentosa (PCARP). Recently, FLVCR1 recessive mutations were also found in two sporadic children with hereditary sensory-autonomic neuropathy (HSAN). We report the unique case of a 33-year-old Italian woman with a combination of typical PCARP, sensory-autonomic neuropathy with sensory loss to all modalities and multiple autonomic dysfuctions, and acute lymphocytic leukemia. Molecular analysis demonstrated homozygosity for the previously identified FLVCR1 p...
August 2, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28765488/wernicke%C3%A3-%C3%A2-%C3%A2-s-encephalopathy-associated-with-liver-abscess
#5
Rajesh Verma, Vipul Garg
Wernicke's encephalopathy is a rare neurological disorder caused by thiamine deficiency, characterised by ocular motor dysfunction, ataxia and impairment in consciousness. It predominantly affects brain regions with a high metabolic rate such as mammillary bodies, medial thalamic nuclei, the tectal region and the cerebellum. Although chronic alcoholism is the most common cause of Wernicke's encephalopathy, various other conditions not related to alcohol consumption such as bariatric surgery, acute pancreatitis, hyperemesis gravidarum, prolonged fasting and gastrointestinal surgery have been implicated in its aetiology...
July 31, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28752511/wernicke-s-encephalopathy-after-bariatric-surgery-with-atypical-magnetic-resonance-imaging-a-case-report
#6
Bo-An Chen, Lu-An Chen Chen
Wernicke's encephalopathy (WE) is a disease caused by thiamine deficiency related to alcoholism, hyperemesis, or thiamine malabsorption. The clinical manifestations of WE are mental change, ataxia, and ophthalmoplegia. The typical magnetic resonance imaging (MRI) findings of WE are symmetrical involvement of medial thalamus, periventricular region of the third ventricle, periaqueductal area, and mammillary body. The atypical MRI findings are more common in nonalcoholic WE. Since the increasing population of obesity and the preference of weight loss surgery, the risk of developing thiamine deficiencies associated with weight loss surgery has become a considerable etiology of WE...
March 15, 2017: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/28739363/involvement-of-cerebellum-in-leigh-syndrome-case-report-and-review-of-the-literature
#7
Nitish Chourasia, Rahmat B Adejumo, Rajan P Patel, Mary Kay Koenig
BACKGROUND: Leigh syndrome is an early-onset progressive neurodegenerative disorder typically involving lesions of the bilateral basal ganglia, thalami, and brainstem. Isolated involvement of the cerebellum is uncommon. PATIENT DESCRIPTION: We present a six-year-old boy with Leigh syndrome who presented with recurrent episodes of ataxia and dysarthria. He was diagnosed with Leigh syndrome at two years of age with bilateral basal ganglia lesions on brain magnetic resonance imaging (MRI)...
May 19, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28701995/cerebellar-dysfunction-in-multiple-sclerosis
#8
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/28695827/experimental-toxoplasmosis-in-japanese-quails-coturnix-coturnix-japonica
#9
Ayhan Atasever, Cahit Babür, Abdullah İnci, Görkem Ekebaş, Anıl İça
OBJECTIVE: In this study, forming of experimental toxoplasmosis in quails; clinical, pathological, and serological determination of tissue lesions and bioassay techniques, which were aimed to compare them and determine pathogenesis. METHODS: A total of 120 one-year-old female quails (Coturnix coturnix japonica) were divided into oral infection, parenteral infection, and control groups. The oral group was infected with 0.5 ml inoculum suspension containing 106 tachyzoites of Toxoplasma gondii, whereas the control group was administered 0...
June 2017: Türkiye Parazitolojii Dergisi
https://www.readbyqxmd.com/read/28686112/emergency-resection-of-brainstem-cavernous-malformations
#10
Abdulfettah Tumturk, Yiping Li, Yahya Turan, Ulas Cikla, Bermans J Iskandar, Mustafa K Baskaya
Brainstem cavernous malformations (CMs) pose significant challenges to neurosurgeons because of their deep locations and high surgical risks. Most patients with brainstem CMs present with sudden-onset cranial nerve deficits or ataxia, but uncommonly patients can present in extremis from an acute hemorrhage, requiring surgical intervention. However, the timing of surgery for brainstem CMs has been a controversial topic. Although many authors propose delaying surgery into the subacute phase, some patients may not tolerate waiting until surgery...
July 7, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28665957/post-dengue-acute-disseminated-encephalomyelitis-a-case-report-and-meta-analysis
#11
Mohamed Gomaa Kamel, Nguyen Tran Nam, Nguyen Huu Bao Han, Abd-Elaziz El-Shabouny, Abd-ElRahman Mohamed Makram, Fatma Abd-Elshahed Abd-Elhay, Tran Ngoc Dang, Nguyen Le Trung Hieu, Vu Thi Que Huong, Trinh Huu Tung, Kenji Hirayama, Nguyen Tien Huy
BACKGROUND: Dengue is one of the most common infectious diseases. The aim of this study was to systematically review acute disseminated encephalomyelitis (ADEM) and to represent a new case. METHODOLOGY/PRINCIPAL FINDINGS: We searched for articles in nine databases for case reports, series or previous reviews reporting ADEM cases in human. We used Fisher's exact and Mann-Whitney U tests. Classification trees were used to find the predictors of the disease outcomes...
June 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28664144/acute-toxicity-and-genotoxicity-of-fermented-traditional-medicine-oyaksungi-san
#12
Hwayong Park, Youn-Hwan Hwang, Jin Yeul Ma
BACKGROUND: The traditional medicine oyaksungi-san (OY) has been prescribed in East Asia for hundreds of years for the treatment of stroke, paralysis, and ataxia. OY also has therapeutic effects on arthralgia, myalgia, and rheumatoid arthritis, and recent studies have shown its protective effects against apoptosis of hippocampal cells and its anti-inflammatory effects on the peripheral blood cells of patient with cerebral infarction. Many studies have explored the use of traditional medicine and herb materials in the development of safe, novel, and effective pharmaceuticals with fewer side effects...
June 2017: Integrative medicine research
https://www.readbyqxmd.com/read/28645923/the-connection-between-acute-otitis-media-and-the-acute-abdomen
#13
Imran Masood, Tami Hendriksz
A female aged 9 years with a recent episode of acute otitis media (AOM) presented to her primary care physician with complaints of severe abdominal pain with right lower quadrant rebound tenderness, suggestive of an acute surgical abdomen. Neurological examination was normal on presentation. She was transferred to the local children's hospital for workup of appendicitis, during which she began exhibiting ataxia and slurred speech. Further evaluation revealed mastoiditis, venous sinus thrombosis and subdural empyema...
June 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28612899/recurrent-miller-fisher-a-new-case-report-and-a-literature-review
#14
F Barbato, A Di Paolantonio, M Distefano, A Mastrorosa, M Sabatelli, S Servidei, M Luigetti
Miller Fisher syndrome (MFS) is considered to be an uncommon variant of Guillain-Barré Syndrome. The disease is clinically characterized by acute ataxia of limbs, areflexia and ophthalmoplegia, although the set of symptoms and signs can be quite heterogeneous, with a benign and monophasic course. We describe a case of recurrent MFS where there have been four clinical episodes occurred with complete remission after each relapse. Last recurrence was treated with oral steroids. The reported frequency of recurrent MFS in literature is variable as well as the best treatment in these cases...
May 2017: La Clinica Terapeutica
https://www.readbyqxmd.com/read/28606112/acute-cerebellitis-in-children-an-eleven-year-retrospective-multicentric-study-in-italy
#15
Laura Lancella, Susanna Esposito, Maria Luisa Galli, Elena Bozzola, Valeria Labalestra, Elena Boccuzzi, Andrzej Krzysztofiak, Laura Cursi, Guido Castelli Gattinara, Nadia Mirante, Danilo Buonsenso, Claudia Tagliabue, Luca Castellazzi, Carlotta Montagnani, Chiara Tersigni, Piero Valentini, Michele Capozza, Davide Pata, Maria Di Gangi, Piera Dones, Silvia Garazzino, Luca Baroero, Alberto Verrotti, Maria Luisa Melzi, Michele Sacco, Michele Germano, Filippo Greco, Elena Uga, Giovanni Crichiutti, Alberto Villani
BACKGROUND: Acute cerebellitis (AC) and acute cerebellar ataxia (ACA) are the principal causes of acute cerebellar dysfunction in childhood. Nevertheless. there is no accepted consensus regarding the best management of children with AC/ACA: the aim of the study is both to assess clinical, neuroimaging and electrophysiologic features of children with AC/ACA and to evaluate the correlation between clinical parameters, therapy and outcome. METHODS: A multicentric retrospective study was conducted on children ≤ 18 years old admitted to 12 Italian paediatric hospitals for AC/ACA from 01/01/2003 to 31/12/2013...
June 12, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28601293/from-dizziness-to-severe-ataxia-and-dysarthria-new-cases-of-anti-ca-arhgap26-autoantibody-associated-cerebellar-ataxia-suggest-a-broad-clinical-spectrum
#16
Ulrike Wallwitz, Sebastian Brock, Antje Schunck, Brigitte Wildemann, Sven Jarius, Frank Hoffmann
In 2010, a novel anti-neuronal autoantibody, termed anti-Ca, was described in a patient with subacute cerebellar ataxia, and Rho GTPase-activating protein 26 (ARHGAP26) was identified as the target antigen. Recently, three additional cases of anti-Ca-positive cerebellar ataxia have been published. In addition to ataxia, cognitive decline and depression have been observed in some patients. Here, we report two new cases of anti-Ca-associated autoimmune cerebellar ataxia. Patient 1 presented with dizziness and acute yet mild limb and gait ataxia...
August 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28566787/acute-flaccid-paraparesis-cauda-equina-syndrome-in-a-patient-with-bardet-biedl-syndrome
#17
Vibhu Krishnan Viswanathan, Rishi Mugesh Kanna, Ajoy Prasad Shetty, S Rajasekaran
Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis...
May 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/28556429/acute-nutritional-axonal-neuropathy
#18
Johanna Hamel, Eric L Logigian
INTRODUCTION: This study describes clinical, laboratory, and electrodiagnostic features of a severe acute axonal polyneuropathy common to patients with acute nutritional deficiency in the setting of alcoholism, bariatric surgery (BS), or anorexia. METHODS: Retrospective analysis of clinical, electrodiagnostic, and laboratory data of patients with acute axonal neuropathy. RESULTS: Thirteen patients were identified with a severe, painful, sensory or sensorimotor axonal polyneuropathy that developed over 2-12 weeks with sensory ataxia, areflexia, variable muscle weakness, poor nutritional status, and weight loss, often with prolonged vomiting and normal cerebrospinal fluid protein...
May 26, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28554905/clinical-reasoning-a-27-year-old-man-with-acute-onset-ataxia
#19
Jorge Risco, Menachem Weiss
No abstract text is available yet for this article.
May 30, 2017: Neurology
https://www.readbyqxmd.com/read/28549713/childhood-opsoclonus-myoclonus-syndrome-a-case-series-from-tunisia
#20
Nedia Ben Achour, Saloua Mrabet, Ibtihel Rebai, Ines Abid, Hanene Benrhouma, Hedia Klaa, Aida Rouissi, Ichraf Kraoua, Ilhem Ben Youssef Turki
INTRODUCTION: Opsoclonus myoclonus syndrome (OMS) is a rare immune-mediated disorder characterized by opsoclonus, myoclonus, ataxia and behavioral changes. The aim of our study was to investigate the epidemiology, clinical features, etiological aspects and outcome of OMS in Tunisian children. METHODS: We conducted a retrospective study over 11years (2005-2016) including all patients aged under 18years who were managed for newly diagnosed OMS in a tertiary care research centre for children with neurological symptoms...
May 23, 2017: Brain & Development
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