Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported the two cases with bulbar-onset ALS showing isolated agraphia without overt dementia and aphasia. Patient 1 was a 69-year-old man and patient 2 was an 81-year-old woman, and both were right-handed. Each patient developed dysarthria as an initial symptom followed by dysphagia, and neurological examinations showed atrophy and fasciculation of the tongue with upper and lower motor-neuron involvement of the extremities. These characteristic features with electromyographic evidence including widespread acute and chronic denervation led to a diagnosis of bulbar-onset ALS. Around 1 year after the onset of ALS, dysarthria was mild enough to allow oral communication enabling the determination that aphasia was absent with well preserved confrontation naming, repetition, reading and comprehension. The patients were polite without abnormal behavior or character change, and their general intelligence was also well preserved with excellent scores on the Mini Mental State Examination (30 and 27 points for patients 1 and 2, respectively) and Frontal Assessment Battery (16 points for each patient). However, spontaneous writing and dictation revealed abundant writing errors characterized by omission of kana letters and paragraphia of kana and kanji letters in both patients. Some syntactic errors were also observed in writing but in spoken language. A letter-number effect on writing errors was observed in patient 1. Copying of letters or words was intact and structure and orientation of written letters was well preserved, indicating the absence of constructional, apraxic or spatial feature of agraphia. Single photon emission computed tomography demonstrated reduced uptake in the bilateral frontotemporal lobes, predominantly in the left hemisphere, with less evident alternation in magnetic resonance imaging. Our results suggest that patients with bulbar-onset ALS may develop isolated agraphia as a single-domain cognitive impairment, preceding the clinical manifestation of aphasia or dementia. We speculate that the main responsible region might be the posterior part of the middle and inferior frontal gyri including Exner's writing center and Broca's area beyond the primary motor cortex.
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PMID:[Bulbar-onset amyotrophic lateral sclerosis (ALS) with isolated agraphia]. 2019 88

Methotrexate (MTX) is an essential component of chemotherapy for childhood acute lymphoblastic leukemia (ALL). Both intravenous and most commonly intrathecal routes of MTX have been implicated in acute, subacute, and chronic neurotoxicity syndromes. Subacute MTX neurotoxicity occurs within days to weeks after the intravenous or intrathecal therapy and characterized by a distinct presentation with remarkable clinical resemblance to stroke, including hemiparesis, hemisensory deficits, aphasia, dysarthria, dysphagia, and diplopia. Herein the authors describe the clinical and typical neuroimaging features of a female patient with ALL who presented with subacute MTX neurotoxicity that rapidly progressed to a severe clinical condition in a few hours but eventually resolved completely with dexamethasone and folinic acid. Subacute MTX neurotoxicity is a transient neurological dysfunction that should be considered in patients presenting with stroke-like and various neurological symptoms 10 to 14 days after intrathecal therapy and diffusion-weighted magnetic resonance imaging should be undertaken for the correct diagnosis and exclusion of possible ischemic infarct. Discontinuation of subsequent intrathecal MTX therapies should be considered in severe cases and treatment with dexamethasone and folinic acid may help to resolve the symptoms.
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PMID:A rare complication of intrathecal methotrexate in a child with acute lymphoblastic leukemia. 2169 68

Corticobasal syndrome (CBS) is characterised by asymmetrical parkinsonism and cognitive impairment. The underlying pathology varies between corticobasal degeneration, progressive supranuclear palsy, Alzheimer's disease, Creutzfeldt-Jakob disease and frontotemporal lobar degeneration sometimes in association with GRN mutations. A 61-year-old male underwent neurological examination, neuropsychological assessment, MRI, and HMPAO-SPECT at our medical centre. After his death at the age of 63, brain autopsy, genetic screening and mRNA expression analysis were performed. The patient presented with slow progressive walking disabilities, non-fluent language problems, behavioural changes and forgetfulness. His family history was negative. He had primitive reflexes, rigidity of his arms and postural instability. Later in the disease course he developed dystonia of his left leg, pathological crying, mutism and dysphagia. Neuropsychological assessment revealed prominent ideomotor and ideational apraxia, executive dysfunction, non-fluent aphasia and memory deficits. Neuroimaging showed symmetrical predominant frontoparietal atrophy and hypoperfusion. Frontotemporal lobar degeneration (FTLD)-TDP type 3 pathology was found at autopsy. GRN sequencing revealed a novel frameshift mutation c.314dup, p.Cys105fs and GRN mRNA levels showed a 50% decrease. We found a novel GRN mutation in a patient with an atypical (CBS) presentation with symmetric neuroimaging findings. GRN mutations are an important cause of CBS associated with FTLD-TDP type 3 pathology, sometimes in sporadic cases. Screening for GRN mutations should also be considered in CBS patients without a positive family history.
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PMID:Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation. 2186 16

Delirium is a common complication in acute stroke yet there is uncertainty regarding how best to screen for and diagnose delirium after stroke. We sought to establish how delirium after stroke is identified, its incidence rates and factors predicting its development. We conducted a systematic review of studies investigating delirium in acute stroke. We searched The Cochrane Collaboration, MEDLINE, EMBASE, CINHAL, PsychINFO, Web of Science, British Nursing Index, PEDro and OT Seeker in October 2010. A total of 3,127 citations were screened, full text of 60 titles and abstracts were read, of which 20 studies published between 1984 and 2010 were included in this review. The methods most commonly used to identify delirium were generic assessment tools such as the Delirium Rating Scale (n = 5) or the Confusion Assessment Method (n = 2) or both (n = 2). The incidence of delirium in acute stroke ranged from 2.3-66%, with our meta-analysis random effects approach placing the rate at 26% (95% CI 19-33%). Of the 11 studies reporting risk factors for delirium, increased age, aphasia, neglect or dysphagia, visual disturbance and elevated cortisol levels were associated with the development of delirium in at least one study. The outcomes associated with the condition are increased morbidity and mortality. Delirium is found in around 26% of stroke patients. Difference in diagnostic and screening procedures could explain the wide variation in frequency of delirium. There are a number of factors that may predict the development of the condition.
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PMID:Delirium in acute stroke: screening tools, incidence rates and predictors: a systematic review. 2223 42

Language, speech, cognitive-associated communication deficits, and dysphagia are common following acquired brain injury (stroke, traumatic brain injury, and others). Treatment of these disorders can be divided into restorative, compensatory, and supportive approaches. Although therapy must be individualized for each person, components of all three approaches are necessary to maximize an individual's recovery. This article provides a general overview of traditional as well as state-of-the-art treatment for aphasia, cognitive-linguistic impairments, dysarthria, apraxia, and dysphagia.
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PMID:Treatment of language, motor speech impairments, and Dysphagia. 2281 Aug 63

Neurological events similar to transient ischemic attack in a peripartum woman are uncommon. Cerebral complications of preeclampsia, thrombo-embolic phenomena, or high spinal can mimic such situations. Spinal anesthesia with local anesthetic and opioid is an established anesthetic technique for cesarean section. Although intrathecal opioids are safe for both the mother and fetus; some unusual complications such as dysphagia alone or associated with facial numbness, aphasia, have been reported. We report a case of transient aphonia and tingling sensation over the face without any dysphagia after intrathecal administration of bupivacaine and fentanyl for cesarean section.
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PMID:Intraoperative neurological event during cesarean section under spinal anesthesia with fentanyl and bupivacaine: Case report and review of literature. 2286 50

This article is the final response in a scientific forum on the optimal intensity of intervention in speech-language pathology. It is a reflection on the state of knowledge offered by the 13 commentaries in this issue, addressing the areas of early communication and language impairment, speech sound disorders in children, emergent literacy, reading, aphasia, dysphagia, stuttering, motor speech disorders, voice disorders, and traumatic brain injury. Although more intense intervention can lead to better outcomes, the relationship between intensity and outcome is not always linear. More is not always better. Non-intense and intense schedules can yield similar outcomes. Intensity can also reach a point of diminishing return. The insights offered by the authors illustrate the challenges involved in studying this complex issue. To establish the optimal intensity of interventions in speech-language pathology our field needs to: identify active ingredients of interventions; better understand how principles of motor learning and neural plasticity facilitate learning; appreciate the contribution of individuals characteristics, values, and preferences; discover the effect of specific combinations of intensity (including dose, dose form, dose frequency, session duration, and total intervention duration) on treatment outcomes, and find practical solutions when disparities exist between research recommendations and workplace limitations.
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PMID:Optimal intervention intensity in speech-language pathology: discoveries, challenges, and unchartered territories. 2297 7

We report an autopsy case of progressive supranuclear palsy (PSP) that clinically showed only slowly progressive and symmetric upper motor neuron syndrome over a disease course of 12 years. A female patient initially exhibited dysarthria at the age of 65, followed by gait disturbance and dysphagia. Neurological examination at age 67 disclosed pseudobulbar palsy, spastic gait, hyperreflexia, and presence of bilateral Hoffmann and Babinski signs. However, muscle atrophy, weakness, evidence of denervation on electromyography, vertical gaze palsy, parkinsonism, gait freezing, aphasia, speech apraxia, or dementia was not noted throughout the course. She was clinically diagnosed as having motor neuron disease consistent with so-called primary lateral sclerosis. Pathological examination disclosed histopathological features of PSP, including argyrophilic and tau-positive tufted astrocytes, neurofibrillary tangles, coiled bodies, and thread-like processes in the motor cortex and superior frontal gyrus, and to a lesser degree, in the basal ganglia and brain stem nuclei. In addition, severe fibrillary gliosis was noted in the precentral gyrus and corticospinal tract, being consistent with upper motor neuron syndrome observed in this case. No TAR-DNA binding protein 43-positive lesion, FUS pathology, Bunina body, or Lewy body-like hyaline inclusion was noted in the motor cortex or lower motor neurons. These findings suggest that when tau pathology is prominent in the motor cortex but is minimal in the basal ganglia and brain stem nuclei, a PSP case can lack all classic clinical features of PSP and show only slowly progressive upper motor syndrome, consistent with clinical picture of primary lateral sclerosis.
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PMID:Progressive supranuclear palsy presenting as primary lateral sclerosis but lacking parkinsonism, gaze palsy, aphasia, or dementia. 2357 Sep 81

Motor impairment, dysphagia, aphasia, and visual impairment are common disabling residual deficits experienced by stroke survivors. Recently, many novel rehabilitative modalities have been investigated for their potential to ameliorate such deficits and to improve functional outcomes. Noninvasive brain stimulation techniques, such as transcranial direct current stimulation (tDCS), have emerged as a promising tool to facilitate stroke recovery. tDCS can alter cortical excitability to induce brain plasticity by modulating the lesioned, contralesional, or bilateral hemispheres with various stimulation modalities. Along with peripheral therapies, tDCS can lead to subsequent sustained behavioral and clinical gains in patients with stroke. In this review, we summarize characteristics of tDCS (method of stimulation, safety profile, and mechanism) and its application in the treatment of various stroke-related deficits, and we highlight future directions for tDCS in this capacity.
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PMID:Review of transcranial direct current stimulation in poststroke recovery. 2334 73

Dieffenbachia is a common domestic plant. Oral contact with the plant generally causes slight effects, but when chewed it may result in painful oropharyngeal edema. Even though the mechanism through which this plant causes toxicity is not known, calcium oxalate crystals (rhaphides) and protease in the idioblast of the plant are considered to be the causes. Our aim was to show the lethal effects of a common domestic plant named Dieffenbachia.A 70-year-old male patient applied to our clinic with aphasia, dysphagia, sialorrhea, wounds on the lips and tongue, and swelling on the face. There was edema on his tongue, soft palate, uvula, anterior pharyngeal plica, epiglottis and aryepiglottic fold, and ulceration on the right side of his tongue, the right cheek mucosa, right-lower gingival, soft palate, tongue base, epiglottis anterior surface, and free edge.Dieffenbachia toxicity presents both minimal and serious problems, which can be life threatening, as in our case. Toxic cases resulting in serious clinical pictures due to Dieffenbachia are rare.
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PMID:Severe destruction of the upper respiratory structures after brief exposure to a dieffenbachia plant. 2371 78


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