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)

Studies have shown significant variation in stroke case fatality across Europe. These variations suggest the need to explore whether differences in physiological support in acute stroke exist across Europe. Data were collected in four European centres over 6 months. These included clinical status and management of acute physiology (hydration, oxygenation, nutrition, hypertension, hyperglycaemia and temperature in the first week of ischaemic stroke) and survival at 3 months. Differences in acute supportive care between centres were adjusted for case mix. Patients admitted to centres in London (n = 106), Dijon (n = 95), Erlangen (n = 91) and Warsaw (n = 72) were studied. There were significant differences in incontinence, dysphasia, dysphagia, conscious level, pyrexia, hyperglycaemia and comorbidity between centres. After adjusting for case mix, there were significant differences in intravenous fluid use (P = 0.04), enteral feeding (P = 0.003), initiation of new antihypertensive therapy (P = 0.0006) and insulin therapy (P = 0.004) between centres, with the London centre having the lowest uptake of interventions. Three-month case fatality rates varied from 10 to 28%. This pilot study shows significant variation in acute physiological support in acute stroke across four European centres, which remains unexplained by case mix. Further research is required to link variation in acute care with stroke outcome, to identify which interventions appear to be the most effective.
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PMID:Variation in the management of acute physiological parameters after ischaemic stroke: a European perspective. 1253 89

We observed two families with a dominantly inherited complex neurological syndrome with onset in adulthood. Family F included 9 affected in four generations. One patient showed prominent anticipation of onset age. Onset was with cerebellar signs followed by dementia, psychiatric symptoms, seizures, and extrapyramidal features. Family M included 14 affected individuals in five generations. Presenting symptoms were either psychiatric and cognitive impairment or a cerebellar syndrome. Extrapyramidal features, dysphagia, incontinence, seizures, and myoclonus may occur. In both families magnetic resonance imaging showed marked atrophy of the brain and cerebellum. Molecular analyses demonstrated an expanded CAG/CAA repeat in the in the TATA box-binding protein (TBP) gene (SCA17).
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PMID:Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. 1459 69

An 11-year-old boy was evaluated for progressive ataxia, cognitive deterioration, and ophthalmoplegia. The child initially presented with abnormal eye movements at the age of 2 months and was noted to have developmental delay at 6 months. At the age of 7 years, he developed ataxia and cognitive impairment, and subsequently manifested dysphagia and incontinence. The pertinent family history included gait difficulty in the paternal grandmother. At the age of 11, his general physical examination was normal. On neurological examination, he had bilateral external ophthalmoplegia, ataxic dysarthria, dysmetria and tremor in the upper extremities, and marked gait ataxia. An ophthalmological evaluation showed no evidence of pigmentary retinopathy. Brain MRI demonstrated cerebellar, brainstem, and cerebral atrophy. An ataxia panel showed 62 repeats in one allele of the SCA2 gene. Most cases of spinocerebellar ataxia type 2 (SCA2) present between 20 years and 40 years, and affected individuals typically have between 34 and 57 CAG repeats. Neonatal cases of SCA2 have been reported in individuals with over 200 CAG repeats. Childhood SCA2 has been reported previously in two patients but not described clinically. This case broadens the spectrum of the clinical features of infantile-onset SCA2 and highlights the importance of considering this diagnosis in infants and children.
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PMID:Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. 1473 88

Patients who have had a stroke are susceptible to many complications. These individuals commonly have comorbidities such as hypertension, diabetes, heart disease, or other ailments that increase the risks of systemic medical complications during stroke recovery. However, several complications can arise as a direct consequence of the brain injury itself, from the ensuing disabilities or immobility, or from stroke-related treatments. These events have a substantial effect on the final outcome of patients with stroke and often impede neurological recovery. Cardiac complications, pneumonias, venous thromboembolism, fever, pain, dysphagia, incontinence, and depression are particularly common after a stroke and usually require specific interventions for their prevention and treatment. However, there are few data to guide the management of these complications. Systematic investigations are therefore needed to further study the effects of medical complications on stroke recovery and to improve interventions for the prevention and treatment of these events.
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PMID:Medical complications after stroke. 2008 36

The demographic development will lead to a disproportionate increase of older people and to a significant increase of functional gastrointestinal disorders including dysphagia due to motility and reflux-related disorders, nausea and vomiting by gastrointestinal dysfunction and abdominal and pelvic pain caused by chronic obstipation, stool impaction and incontinence. This implies significant consequences with regard to the development of weight loss, anorexia, social disadvantages and increased mortality with serious socio-economic burden. Ageing processes are determined by differentiated neurogeneration of the myenteric plexus (cholinergic degeneration) through reactive oxygen and nitrogen species and alteration of protective and regenerative processes. Age-related gastrointestinal dysfunctions may be caused by the ageing gastrointestinal tract itself or by other age-related diseases such as tumour, neurological or inflammatory diseases, anatomic changes, therapeutic medication, polymorbidity or malnutrition. Because of the significant therapeutic options, differential diagnostic work-up is mandatory also in elderly patients.
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PMID:[Age-related functional gastrointestinal disorders]. 2122 38

Primary angiitis of the central nervous system is a rare and difficult entity. Here we represented the clinical and pathological features of a patient with little response to steroid before definite diagnosis. The 50-year-old male had a fluctuating disease course for more than 3 years. He presented visual disorders, seizure, cognitive impairment, hypersomnia, unsteady gait, dysphasia, dysphagia, and incontinence. Magnetic resonance imaging showed multiple, supratentorial and infratentorial abnormal signals, while cerebrospinal fluid and cerebral angiography were normal. Magnetic resonance spectrum showed a decrease of N-acetyl-aspartate. Brain biopsy revealed nongranulomatous lymphatic vasculitis with reactive gliosis, cicatrization, demyelination and focal hemorrhages.
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PMID:Primary angiitis of the central nervous system: a case report. 2204 Apr 43

Individuals with acquired brain injuries often present with lifelong health challenges. Trauma to the body directly related to the injury, physical and medical sequelae resulting from the brain injury itself, and an increase in the observed onset of physical aging are among the problems which require consideration throughout their lives. For many rehabilitation professionals, issues related to medical stability and health maintenance are unfamiliar and intimidating. As both hospital stays shorten and an existing population of individuals with brain injuries' survival and life expectancy rates increase, rehabilitation professionals have been increasingly challenged by medical issues. Rehabilitation nurses are positioned to best navigate these issues and facilitate needed care coordination, early intervention, and ongoing education for individuals, their families, and other caregivers. This article describes common medical complications related to the initial and related disability and aging in individuals with brain injury including chronic and late emerging complications involving all body systems including spasticity and changing mobility, aspiration and dysphagia, incontinence, diabetes, and acute and chronic pain. Strategies for successful management of these issues in a home or community setting are also discussed. Special attention is paid to falls and fall prevention, issues specific to aging women, and nutrition and weight control. Ways to promote positive health behaviors to preserve function are also explored. Additionally, patient and family education as part of a lifetime management plan is discussed.
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PMID:Long-term health implications of individuals with TBI: a rehabilitation perspective. 2252 16

Post stroke infections are a significant clinical problem. Dysphagia occurs in approximately half of stroke patients and is associated with respiratory infections; however it is unclear what other factors contribute to an increased risk. This study aimed to determine which factors are most strongly predictive of infections in the first 7 days post stroke admission. A retrospective review of 536 stroke patients admitted to Australian hospitals in 2010 was conducted. Data were collected on 37 clinical and demographic parameters. Univariate and multivariate logistic regression analysis was performed. The overall incidence of infection was 21%. Full assistance with mobility and incontinence on admission were associated with increased odds of general infection. Nil by mouth and presence of a nasogastric tube were significantly associated with patients developing respiratory infections. Urinary incontinence was a significant predictor for a urinary tract infection. Incidence of infection was highest on day two post admission. This study found enteral feeding, requiring full assistance with mobility and incontinence were significantly associated with developing infections in acute stroke. It contributes valuable new data from a large cohort of stroke patients demonstrating a period of susceptibility to infection in the very acute post stroke period.
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PMID:Can't swallow, can't transfer, can't toilet: factors predicting infections in the first week post stroke. 2517 63

The purpose of this study was to determine whether transplantation of umbilical cord blood from unrelated donors before the development of symptoms could halt the progression of early juvenile onset cases of MLD in whom the disease was diagnosed based on the family history. Three asymptomatic children (aged 2 years 4 months, 2 years 8 months and 5 years 5 months, two of whom were sisters) underwent unrelated umbilical cord blood transplantation (UCBT) and two untreated symptomatic siblings were included in the study. In 14-year and 6-year follow-ups after transplantation, clinical examination, ARSA enzyme levels, neurophysiological, neuroimaging, and psychological status were assessed. All three transplanted patients remain well, and the parameters evaluated remain stable. Of the treated patients, the two sisters had ongoing evidence of demyelinating sensorimotor neuropathy on nerve conduction tests, and with a early sensorimotor neuropathy in the older sister , and the other patient has mild intellectual impairment. One of the two un-transplanted controls, 15 years after MLD diagnosis, has relentlessly progressed to full dependency with epilepsy, severe mental retardation, dystonic movements, dysphagia and recurrent respiratory problems. Six years after diagnosis, the other control has a slowly progressive course with spastic dystonic quadriplegia, epilepsy, dysphagia, continual drooling and incontinence. Our data show that, in comparison with their untreated siblings, UCBT significantly slowed the progression of the disease in the treated patients. We conclude that UCBT benefits children with pre-symptomatic early juvenile onset MLD by favourably altering the natural history of the disease.
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PMID:Outcome of Early Juvenile Onset Metachromatic Leukodystrophy After Unrelated Cord Blood Transplantation: A Case Series and Review of the Literature. 2618 19

Neuroleptic malignant syndrome (NMS) is associated with the administration of antipsychotic agents and other drugs such as l-dopa, antidepressants, and antihistaminic agents. Unexpected changes in mental status, new-onset catatonia, episodic tachycardia, tachypnea, hypertension, dysarthria, dysphagia, diaphoresis, sialorrhea, incontinence, low-grade temperature elevations, and rigidity should arouse suspicion. Several lines of evidence provide support for the involvement of dopamine. Most of the drugs implicated in NMS are D2 dopamine receptor antagonists. Central noradrenergic activity is also possibly related to the disorder, as sympathetic hyperactivity is associated with the active phase of NMS. Currently, the definitive role of GABA deficiency in NMS is yet to be established. Differential diagnosis should include malignant hyperthermia, lethal catatonia, lithium toxicity, serotonin syndrome, and heat stroke. A high degree of suspicion and the discontinuation of antipsychotic agents even if the diagnosis is not established are essential for the safety of the patient. Treatment of NMS should be individualized and be based empirically on the character, duration, and severity of the clinical signs and symptoms noted. The initial step in the treatment of NMS is the removal of the offending agent. Full-blown NMS is a serious condition and requires immediate supportive, nutritive, and electrolyte therapies. The administration of drugs that can improve NMS, such as IV dantrolene and/or oral bromocriptine, may also be taken into consideration, based on the severity and nature of the NMS.
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PMID:Neuroleptic malignant syndrome: risk factors, pathophysiology, and treatment. 2698 10


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