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

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

Creutzfeldt-Jakob disease (CJD) is a progressive disease that is characterized by the accumulation of abnormal prion-like proteins in the central nervous system. The cerebral cortex is primarily affected in CJD, leading to spongiform changes and dementia. To date, there have been no reported cases of CJD, with local neuroparalysis discovered at an early stage of the disease. Here, we describe a patient who presented unilateral vocal cord and soft palate paralysis before the progression of CJD. After developing forgetfulness 6 months ago, a 76-year-old woman was presented at department of Otorhinolaryngology in a general hospital for recently developed hoarseness and dysphagia. In the oral and laryngeal endoscopic findings, unilateral paralysis of the vocal cord and soft palate was noted. On videofluorography, the larynx failed to elevate straight on swallowing. The right tongue pharyngeal wall was lax, and some contrast agent was retained in the lower right piriform sinus. The paralysis was thought to be due to the glossopharyngeal nerve or vagal nerve damage, which was caused by peripheral nerve injury or infranuclear palsy. Diffusion-weighted magnetic resonance imaging (MRI) revealed high signals in the cerebral cortical area (a signature feature of CJD). The patient died 2.5 years after the onset of illness. The patient was diagnosed as probable sporadic CJD. Since we could not detect any peripheral organic findings that could cause the paralysis, we suspect that CJD is responsible for the paralysis. In treating CJD patients with neurological signs, exclusive investigation is required to obtain a more detailed picture of the disease.
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PMID:Creutzfeldt-Jakob disease with paralysis of the unilateral vocal cord and soft palate. 2209 54

BACKGROUND Meningiomas are slow-growing tumors attached to the dura mater and are composed of neoplastic meningothelial cells. The tumors are most commonly located in convexities, and it is relatively rare to find such a growth in the parietal region such as the one presented in this case report. CASE REPORT Because of its uncommon presentation, we hereby report the case of a 67-year-old, previously healthy, white Lebanese female patient who presented with forgetfulness, unsteady gait, right-sided motor weakness, and dysphagia. She was found to have an anaplastic meningioma located in the left parietal lobe that was treated by surgical resection. The patient had an uneventful postoperative course, and was stable at later follow-ups. CONCLUSIONS This case report describes the clinical presentation, pathological findings, and the prognosis of this mass, which is atypical in this location, and has been rarely reported in the literature. We also review the literature on anaplastic meningiomas.
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PMID:Anaplastic Meningioma Presenting as a Left Parietal Mass: A Case Report. 2910 13

Depot medications have been used for long-term treatment of many different medical conditions (schizophrenia, opioid addiction) and for prevention of pregnancy (birth control). In addition, proposals for depot medication for antidepressants have been made as a possible treatment for chronic depression. For the treatment of chronic epilepsy, there are currently no depot antiepileptic drugs (AEDs). However, there may be a role for them. Depot AEDs could improve medication adherence rates, thereby reducing the morbidity and mortality that are associated with ongoing seizures. This could help to reduce hospital costs for people with epilepsy. Potential patient populations that could benefit from a depot AED include patients with forgetfulness, socioeconomic barriers to access of daily oral medications, impaired gastric absorption or dysphagia, comorbid epilepsy and psychiatric disease, and personal preference to avoid the inconvenience of taking a medication daily or even multiple times per day. In this article, we review reasons to create a depot AED and the outcomes of doing so in the context of the pillars of bioethics: beneficence (to act in a patient's best interest), autonomy (to respect a patient as an individual and honor their preferences), nonmaleficence (to do no harm), and justice (to treat all persons fairly and equally).
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PMID:Future development of a depot antiepileptic drug: What are the ethical implications? 3003 5