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https://www.readbyqxmd.com/read/29095329/novel-gfap-variant-in-adult-onset-alexander-disease-with-progressive-ataxia-and-palatal-tremor
#1
Jennifer M Gass, Anvir Cheema, Jessica Jackson, Patrick R Blackburn, Jay Van Gerpen, Paldeep S Atwal
INTRODUCTION: Alexander disease is a rare neurodegenerative disease caused by variants in the glial fibrillary acidic protein gene (GFAP). This disorder can develop as an infantile, juvenile or adult-onset form and is characterized by several clinical features, including macrocephaly, seizures, ataxia, and bulbar/pseudobulbar signs. While the majority of these patients have the more progressive infantile form which causes severe leukodystrophy and early death; the less common adult form is more variable (ie, onset age, symptoms), with bulbar dysfunction as the primary feature...
November 2017: Neurologist
https://www.readbyqxmd.com/read/29092641/revisiting-the-pathoanatomy-of-pseudobulbar-affect-mechanisms-beyond-corticobulbar-dysfunction
#2
Peter Bede, Eoin Finegan
No abstract text is available yet for this article.
November 2, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29042922/endoscopy-in-the-treatment-of-slit-ventricle-syndrome
#3
Jiaping Zheng, Guoqiang Chen, Qing Xiao, Yiyang Huang, Yupeng Guo
The present study aimed to investigate the efficacy of endoscopy in the treatment of post-shunt placement for slit ventricle syndrome (SVS). Endoscopic surgery was performed on 18 patients with SVS between October 2004 and December 2012. Sex, age, causes of the hydrocephalus, ventricular size and imaging data were collected and analyzed. All patients were divided into two groups according to ventricular size and underwent endoscopic surgeries, including endoscopic third ventriculostomy (ETV), endoscopic aqueductoplasty and cystocisternostomy...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28855492/multiple-pseudofractures-due-to-fanconi-s-syndrome-associated-with-wilson-s-disease
#4
Mai Tsuchiya, Ryusuke Takaki, Fumikazu Kobayashi, Takamura Nagasaka, Kazumasa Shindo, Yoshihisa Takiyama
We report a 40-year-old man who presented with multiple bone pseudofractures after about 20 years from the onset of Wilson's disease (WD). At age 36, he first noticed pain in his left shoulder. At age 39, he had multiple chest pain. On neurologic examinations, dysarthria and dysphagia due to pseudobulbar palsy, rigidity and tremor on right upper lim were observed. WD was confirmed because of low levels of plasma cupper and ceruloplasmin in addition to ATP7B gene mutation. The chest X-ray revealed multiple fractures of the several ribs...
September 30, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28807457/identification-of-pseudobulbar-affect-symptoms-in-the-nursing-home-setting-development-and-assessment-of-a-screening-tool
#5
Carrie Allen, Barbara Zarowitz, Terrence O'Shea, Edward Peterson, Charles Yonan, Fanta Waterman
Pseudobulbar Affect (PBA) is a neurologic condition characterized by involuntary outbursts of crying and/or laughing disproportionate to patient mood or social context. Although an estimated 9% of nursing home residents have symptoms suggestive of PBA, they are not routinely screened. Our goal was to develop an electronic screening tool based upon characteristics common to nursing home residents with PBA identified through medical record data. Nursing home residents with PBA treated with dextromethorphan hydrobromide/quinidine sulfate (n = 140) were compared to age-, gender-, and dementia-diagnosis-matched controls without PBA or treatment (n = 140)...
August 11, 2017: Geriatric Nursing
https://www.readbyqxmd.com/read/28745663/-differential-diagnosis-of-paroxysms-of-tonic-muscle-tension-in-children-of-early-age-with-delay-of-psychomotor-development-and-abnormal-neurologic-status
#6
M B Mironov, M Yu Bobylova, I V Nekrasova, T M Krasilschikova, M M Gunchenko, M N Sarzhina, A S Petrukhin, S G Burd, T T Batisheva
AIM: To study neurologic status, results of video-EEG monitoring and magnetic resonance imaging in children under 3 years old with paroxysms of tonic muscle tension. MATERIAL AND METHODS: One hundred and forty-six infants and young children with motor disturbances and different variants of clinically similar epileptic seizures, hyperkinesis and stereotypes were examined. RESULTS AND CONCLUSION: Cerebral palsy (91%), genetic and chromosomal abnormalities (6%), brain malformations (2%) were identified...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28702192/freezing-of-gait-is-an-early-clinical-feature-of-progressive-supranuclear-palsy
#7
Yasushi Osaki, Yukari Morita, Yuka Miyamoto, Kounosuke Furuta, Hirokazu Furuya
BACKGROUND AND AIM: Early clinical diagnosis of progressive supranuclear palsy (PSP) remains challenging. AIM: We attempted to identify any sign or symptom to diagnose PSP earlier. METHODS: A total of 401 patients, 40 with PSP and 361 with other neurodegenerative disorders, were included. We followed these patients for at least 1 year since 2009. We reviewed the signs and symptoms of patients with PSP in a standardized manner, and observed four manifestations: "vertical supranuclear gaze abnormality," "movement disorders," "pseudobulbar palsy" and "dementia of frontal type...
May 2017: Neurology and Clinical Neuroscience
https://www.readbyqxmd.com/read/28691510/treatment-of-pseudobulbar-affect-with-fluoxetine-and-dextromethorphan-in-a-woman-with-multiple-sclerosis
#8
Ian McGrane, Amy VandenBerg, Robert Munjal
No abstract text is available yet for this article.
November 2017: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/28625974/pseudobulbar-affective-disorder-emotion-and-the-brain
#9
EDITORIAL
Michael Swash, Michael R Trimble
No abstract text is available yet for this article.
October 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28572273/laughter-crying-and-sadness-in-als
#10
Nimish J Thakore, Erik P Pioro
BACKGROUND: Pseudobulbar affect (PBA) is prevalent in amyotrophic lateral sclerosis (ALS), but there is limited information on its associations and course. OBJECTIVES: Explore prevalence, associations, course and manifestations of PBA in outpatient cohort of patients with ALS and examine its relationship to depression. METHODS: Self-reported measures of PBA and depression (Center for Neurologic Study-Lability Scale (CNS-LS) and Patient Health Questionnaire (PHQ-9), respectively) were obtained from consecutive patients with ALS using tablet devices in waiting rooms (Knowledge Program)...
October 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28457042/bilateral-anterior-opercular-syndrome
#11
Rohan Sequeira, Sham Kamble, Amol Bhore, Ashwini Ronghe
Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is characterised by paralysis of the facial, masticatory, pharyngeal, laryngeal, brachial and tongue muscles. It is a cortical form of pseudobulbar palsyo which is commonly caused by a vascular aetiology. The clinical presentation is anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional functions of these structures are preserved. We report a case of a 61 year old man who had difficulty in chewing, swallowing and vocalising since one and a half month, which on imaging was found to be opercular syndrome...
February 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28392953/acute-psychosis-as-main-manifestation-of-central-pontine-myelinolysis
#12
Mangala Gopal, Melvin Parasram, Harsh Patel, Chike Ilorah, Hrachya Nersesyan
Central pontine myelinolysis (CPM) is an acute demyelinating neurological disorder affecting primarily the central pons and is frequently associated with rapid correction of hyponatremia. Common clinical manifestations of CPM include spastic quadriparesis, dysarthria, pseudobulbar palsy, and encephalopathy of various degrees; however, coma, "locked-in" syndrome, or death can occur in most severe cases. Rarely, CPM presents with neuropsychiatric manifestations, such as personality changes, acute psychosis, paranoia, hallucinations, or catatonia, typically associated with additional injury to the brain, described as extrapontine myelinolysis (EPM)...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28377827/anti-yo-mediated-paraneoplastic-cerebellar-degeneration-associated-with-pseudobulbar-affect-in-a-patient-with-breast-cancer
#13
Allison N Martin, Patrick M Dillon, David E Jones, David R Brenin, David A Lapides
Paraneoplastic cerebellar degeneration (PCD) is a rare anti-Yo mediated paraneoplastic syndromes rarely that is infrequently associated with breast cancer. We present a case of a 52-year-old female presenting with diplopia, gait instability, dysarthria, dysphagia, nystagmus, and, most notably, new onset paroxysmal episodes of uncontrollable crying concerning for pseudobulbar affect (PBA). Serologic testing showed anti-Yo antibodies. The patient was found to have stage IIIA breast cancer as the inciting cause of the paraneoplastic syndrome...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/28125430/pseudobulbar-affect-what-nurses-stroke-survivors-and-caregivers-need-to-know
#14
Melissa A Schneider, Matthew D Schneider
Pseudobulbar affect (PBA) is a neurologic condition that can happen after a patient has had some kind of neurological insult. In this syndrome, involuntary, uncontrollable, and inappropriate emotional outbursts unrelated or out of proportion to the situation are common symptoms. This can be very frustrating and scary. Because stroke survivors and their caregivers are overloaded with information during the transition from hospital to home, information about PBA is not usually discussed. In a survey by the National Stroke Association, 53% of stroke survivors reported that they had some of the symptoms of this disorder...
April 2017: Journal of Neuroscience Nursing: Journal of the American Association of Neuroscience Nurses
https://www.readbyqxmd.com/read/28072907/symptomatic-treatments-for-amyotrophic-lateral-sclerosis-motor-neuron-disease
#15
REVIEW
Louisa Ng, Fary Khan, Carolyn A Young, Mary Galea
BACKGROUND: Motor neuron disease (MND), which is also known as amyotrophic lateral sclerosis (ALS), causes a wide range of symptoms but the evidence base for the effectiveness of the symptomatic treatment therapies is limited. OBJECTIVES: To summarise the evidence from Cochrane Systematic Reviews of all symptomatic treatments for MND. METHODS: We searched the Cochrane Database of Systematic Reviews (CDSR) on 15 November 2016 for systematic reviews of symptomatic treatments for MND...
January 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28044945/recognizing-and-treating-pseudobulbar-affect
#16
William M Sauvé
Pseudobulbar affect, thought by many to be a relatively newly described condition, is in fact a very old one, described as early as the 19th century. It refers to those who experience inappropriate affect, disconnected from internal state, or mood, generally thought to be the result of an upper motor neuron injury or illness. One possible explanation for this condition's relative obscurity is the dearth of treatment options; clinical medicine is not typically in the habit of identifying conditions that cannot be modified...
December 2016: CNS Spectrums
https://www.readbyqxmd.com/read/27997281/use-of-compounded-dextromethorphan-quinidine-suspension-for-pseudobulbar-affect-in-hospice-patients
#17
Robert G Wahler, Alfred T Reiman, Joshua V Schrader
BACKGROUND: Pseudobulbar affect (PBA) consists of unprovoked and uncontrollable episodes of laughing and/or crying. In end-of-life situations, PBA symptoms can be especially distressing to family and friends during an already heightened emotional time. Although a commercial product combining dextromethorphan and quinidine (DMQ) is FDA approved for use in PBA, many hospice patients are unable to swallow any solids or semisolids. An alternative formulation for these patients is needed. OBJECTIVE: We present here two cases in which we used a compounded DMQ suspension successfully to treat PBA symptoms in the weeks before the patients' death...
March 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/27905359/-clinical-and-neuropsychological-features-of-alzheimer-s-disease-in-the-combination-with-cerebrovascular-disease
#18
N A Trusova, O S Levin, A V Arablinsky
AIM: To study clinical/neuropsychological and neuroimaging characteristics of Alzheimer's disease in the combination with cerebrovascular disease (CVD). MATERIAL AND METHODS: Ninety patients with dementia, including 35 patients with AD, 35 patients with mixed dementia (MD) and 20 patients with vascular dementia, were examined. The character of dementia was established according to NINCDS-ADRDA and NINDS-AIREN criteria. The neuropsychological battery included Addenbrooke's Cognitive Examination (ACE-R), Montreal Cognitive Assessment scale (MoCA), fluency test and the visual memory test (SCT)...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27855728/dextromethorphan-quinidine-responsive-pseudobulbar-affect-pba-psychopharmacological-model-for-wide-ranging-disorders-of-emotional-expression
#19
Stephen M Stahl
The symptoms of emotional dysregulation associated with the syndrome known as pseudobulbar affect (PBA) can be effectively treated by the sigma, glutamate, and serotonergic agent dextromethorphan combined with quinidine. If the same brain circuits affected in PBA are also compromised in related disorders of emotional expression, dextromethorphan-quinidine and other novel sigma-glutamate-serotonin agents could prove to be novel psychopharmacologic treatments for these conditions as well.
December 2016: CNS Spectrums
https://www.readbyqxmd.com/read/27831974/outcomes-of-palatal-lift-prosthesis-on-dysarthric-speech
#20
Firas S D Alfwaress, Abdel Rahim Bibars, Abedelhadi Hamasha, Emad Al Maaitah
PURPOSE: This study was designed to investigate the effect of palatal lift prosthesis (PLP) on the speech of individuals with different types of dysarthria. PARTICIPANTS: Thirty (19 males and 11 females) native speakers of Jordanian Arabic with dysarthria participated in the study. The age of the participants ranged from 8 to 67 years with an average of 34.1 years. Traumatic brain injury was the most common etiology of dysarthria among 12 participants, stroke among 11, multiple sclerosis among 3, and pseudobulbar palsy among 2; 1 participant had Parkinson disease, and another participant had amyotrophic lateral sclerosis...
January 2017: Journal of Craniofacial Surgery
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