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)

Many people with Down's syndrome (DS) experience eating, drinking, and swallowing (EDS) difficulties, which can potentially lead to life-threatening conditions such as malnutrition, dehydration, and aspiration pneumonia. As the life expectancy of people with DS continues to improve, there is an increasing need to examine how the aging process may further affect these conditions. Published research studies have yet to address this issue; therefore, this article draws on the literature in three associated areas in order to consider the dysphagic problems that might develop in aging people with DS. The areas examined are EDS development in children and adolescents with DS, EDS changes associated with aging, and EDS changes associated with dementia of the Alzheimer's type (DAT) because this condition is prevalent in older adults with DS. This article concludes that unlike in the general population, the aging process is likely to cause dysphagic difficulties in people with DS as they get older. Therefore, it is suggested that longitudinal studies are needed to examine the specific aspects of EDS function that may be affected by aging and concomitant conditions in DS.
Dysphagia 2008 Mar
PMID:The impact of aging on eating, drinking, and swallowing function in people with Down's syndrome. 1769 11

Nutrition problems and specificly weight loss are common in older adults with dementia living in the community. Study 1 involved interviews with 14 formal providers to identify the range of nutrition concerns they had experienced. In study 2, 74 Canadian Alzheimer Society chapters were surveyed by e-mail (23% participation rate) to determine nutrition concerns and education resources provided to clients. In all, 26 of these nutrition pamphlets or handouts were rated on content and format by 2 independent researchers using a standardized rating system. Common nutrition concerns identified in older adults with dementia living in the community include safety, weight loss, forgetting or refusing to eat, appetite, dysphagia, and unfavorable eating behaviors. Most resources provided to clients were considered low quality and did not match the nutrition concerns expressed by formal providers. Currently, there is a considerable knowledge translation gap around nutrition and dementia, and this study provides a basis for the future development of nutrition education resources.
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PMID:Nutrition education needs and resources for dementia care in the community. 1827 54

A number of autoimmune disorders have been identified in which IVIg treatment may be beneficial. Evidence for the use of IVIg in inflammatory myopathies comes from controlled trials in dermatomyositis (DM) and sporadic-inclusion body myositis (s-IBM). In DM, muscle strength was increased and neuromuscular scores and skin rashes improved. Results for s-IBM have not been as encouraging as those observed for DM. Subsequently, IVIg should be recommended as a second-line therapy in DM and used for life-threatening dysphagia in s-IBM. Using an animal model of experimental autoimmune myasthenia gravis (MG), studies also indicate that IVIg can significantly improve clinical symptoms and affect pathogenic idiotypic antibodies. In human MG, studies indicate that IVIg exhibited equal efficacy compared to plasmapheresis. IVIg can therefore be recommended for use in an MG crisis or in lieu of plasmapheresis. The role of IVIg in the chronic management of MG has not been studied. IVIg has also been investigated in autoimmune CNS disorders. In a controlled study in patients with stiff person syndrome IVIg was effective, with improvements in the distribution of stiffness index and heightened sensitivity scores. For neurodegenerative diseases such as Alzheimer's disease, post-polio syndrome, pain, fibrosis, and autoimmune sleep disorders, some early promising results for the use of IVIg are emerging, but remain to be fully investigated. In conclusion, IVIg appears to be an effective treatment for a number of autoimmune disorders, however, optimal dosing and pharmacogenetic studies are necessary.
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PMID:IVIg in other autoimmune neurological disorders: current status and future prospects. 1868 21

Patients with dementia develop dysphagia some time during the clinical course of their disease. The aim of this study was to compare the swallowing functions of the 2 most common types of dementia: Alzheimer disease (AD) and vascular dementia (VaD). Videofluoroscopic swallowing studies of the 2 patient groups were analyzed according to various oral, pharyngeal, and laryngeal variables of swallowing. The results indicate that there are some different patterns of swallowing disorders. The AD patients were significantly more impaired in "oral transit delay over 5 seconds" with liquids (chi2=7.065, df=1, P=0.008), whereas the VaD patients showed more deficits in "bolus formation and mastication" of semisolid food (chi2=4.64, df=1, P=0.039), "hyolaryngeal excursion" (chi2=4.102, df=1, P=0.043), "epiglottic inversion" (chi2=4.612, df=1, P=0.032), and "silent aspiration" (chi2=6.258, df=1, P=0.011). These results could indicate that the swallowing disorders of the AD group may result from sensory impairment in relation to dysfunctions in the temporoparietal areas, whereas the swallowing disorders of VaD group may primarily be caused by motor impairments due to disruptions in the corticobulbar tract. This study is noteworthy because it is one of the first attempts to differentiate between the swallowing symptoms of AD and VaD patients. A further study that includes patients with more severe degree of dementia (eg, patients over clinical dementia rating 3) might delineate additional discriminating swallowing patterns between the 2 dementia groups. In addition, a follow-up study exploring various kinematic characteristics of dysphagia would address physiologic issues of swallowing disorders as related to one of the most important clinical variables, laryngeal aspiration in the 2 dementia groups.
Alzheimer Dis Assoc Disord
PMID:Dysphagia in patients with dementia: Alzheimer versus vascular. 1947 73

Variations in the mitochondrial helicase Twinkle (PEO1) gene are usually associated with autosomal dominant chronic progressive external ophthalmoplegia (PEO). We describe five patients from two unrelated Alsatian families with the new R374W variation in the Twinkle linker region who progressively developed an autosomal dominant multisystem disorder with PEO, hearing loss, myopathy, dysphagia, dysphonia, sensory neuropathy, and late-onset dementia resembling Alzheimer's disease. These observations demonstrate that Twinkle variations in the linker domain alter cerebral function and further implicate disrupted mitochondrial DNA integrity in the pathogenesis of dementia.
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PMID:A novel variation in the Twinkle linker region causing late-onset dementia. 1951 67

The spectrum of Lewy body disorders includes not only Parkinson's disease, dementia with Lewy bodies and Parkinson's disease associated dementia but also Lewy body dysphagia and autonomic failure with Lewy bodies. In the last years an increasing number of cases showing Lewy body pathology has been recognised at autopsy. In fact, dementia with Lewy bodies is thought to be the second most frequent degenerative cause of cognitive decline in elderly after Alzheimer's disease, representing about 20% of dementia cases. The clinical diagnosis of dementia with Lewy bodies and of Parkinson's disease dementia is determinant for prognosis and therapeutic management, namely for avoiding increased sensibility to neuroleptics. The recent progress of neuropathology in this field made it possible to define clinical and neuropathological guidelines for the diagnosis. This review briefly describes the most important data of all Lewy body related disorders.
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PMID:Neuropathology of Lewy body disorders. 1957 66

The purpose of this retrospective study of aspiration and the lack of a protective cough reflex at the vocal folds (silent aspiration) was to increase the awareness of nursing staffs of the diagnostic pathology groups associated with silent aspiration. Of the 2,000 patients evaluated in this study, 51% aspirated on the video fluoroscopic evaluation. Of the patients who aspirated, 55% had no protective cough reflex (silent aspiration). The diagnostic pathology groups with the highest rates of silent aspiration were brain cancer, brainstem stroke, head-neck cancer, pneumonia, dementia/Alzheimer, chronic obstructive lung disease, seizures, myocardial infarcts, neurodegenerative pathologies, right hemisphere stroke, closed head injury, and left hemisphere stroke. It is of high concern that the diagnostic groups identified in this research as having the highest risk of silent aspiration be viewed as "red-flag" patients by the nursing staff caring for them. Early nursing dysphagia screens, with close attention to the clinical symptoms associated with silent aspiration, and early referral for formal dysphagia evaluation are stressed.
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PMID:Silent aspiration: results of 2,000 video fluoroscopic evaluations. 1967 3

The goal of this study was to determine whether functional changes in cortical control of swallowing are evident in early Alzheimer's disease (AD), before dysphagia (swallowing impairment) is evident. Cortical function was compared between an early AD group and a group of age-matched controls during swallowing. Swallowing oropharyngeal biomechanics examined from videofluoroscopic recordings were also obtained to more comprehensively characterize changes in swallowing associated with early AD. Our neuroimaging results show that the AD group had significantly lower Blood-Oxygen-Level-Dependent (BOLD) response in many cortical areas that are traditionally involved in normal swallowing (i.e., pre and postcentral gyri, Rolandic and frontal opercula). There were no regions where the AD group showed more brain activity than the healthy controls during swallowing, and only 13% of all active voxels were unique to the AD group, even at this early stage. This suggests that the AD group is not recruiting new regions, nor are they compensating within regions that are active during swallowing. In videofluoroscopic measures, the AD group had significantly reduced hyo-laryngeal elevation than the controls. Although, swallowing impairment is usually noted in the late stages of AD, changes in cortical control of swallowing may begin long before dysphagia becomes apparent.
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PMID:Early deficits in cortical control of swallowing in Alzheimer's disease. 2030 85

Increased morbidity and mortality rates as well as some other manifestations in Alzheimer's disease can be explained by subcortical degeneration. Pathological evidence is scarce but confirmative. We report a 77-year-old patient who presented with a 6-year history of dyspnoea, stridor and dysphagia. Unexpectedly, histopathological examination disclosed extensive degeneration of the medulla by tau pathology. The majority of symptoms and signs could be explained by the medullary tau pathology. Whether the medullary tau pathology in this case was a rare aberrant progression of Alzheimer's disease or a new presentation of tauopathy concomitant with subclinical Alzheimer's disease should be elucidated by additional studies.
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PMID:Isolated bulbar paralysis in a patient with medullar tau pathology: a case report. 2056 53

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


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