Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 11-year-old boy developed occlusion of the left internal carotid artery (ICA) following surgical correction of atypical coarctation of the aorta. The patient was admitted to our hospital after presenting with severe hypertension secondary to abdominal aortic hypoplasia and renal artery stenosis. Reconstruction of the abdominal aorta with bypass grafting was performed without complication. However, in the postoperative period, the patient experienced recurrent transient ischemic attacks manifesting as paresthesia of the right upper limbs, dysarthria, and right-sided weakness. Cerebral angiography revealed occlusion of the C(2) portion of the left ICA and decreased resting cerebral blood flow in the left hemisphere. Extracranial-intracranial arterial bypass was performed, and the patient suffered no further adverse neurological events. Coarctation of the aorta is an uncommon congenital condition that may result in cerebral ischemic disease. The cerebrovascular circulation should be evaluated, even in patients without a pre-existing history of cerebral ischemic symptoms.
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PMID:Internal carotid artery occlusion following correction of atypical aortic coarctation-- case report--. 1619 49

Basilar-type migraine (BTM) is a type of migraine with aura symptoms resulting from brain stem or bi-hemispheric structures but without motor elements. There are no precise data on the frequency of BTM. The main cohort of the patients includes young people and children with female predomination. The onset of the disease usually occurs before the age of 25. The diagnosis of BTM is based on the finding of two migraine attacks accompanied by a specific aura, with dysarthria, vertigo, tinnitus, impaired hearing, double vision, visual aura elements, ataxia of a cerebellar type, loss of consciousness, and bilateral paresthesias. In the differential diagnosis one should consider the pathology of posterior fossa, diseases with recurrent vertigo, complex epileptic seizures, CADASIL and MELAS syndromes, and alternative hemiplegic migraine with cerebellar symptoms and signs. In the prophylaxis sodium valproate and calcium-entry blockers and, especially in the prophylaxis of vertigo, betahistine chloride are used.
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PMID:[Basilar-type migraine: pathophysiology, symptoms and signs, and treatment]. 1641 73

A 79-year old man noticed paresthesia in all 4 limbs, quadriplegia and dysarthria, and then developed respiratory arrest requiring mechanical ventilation. After level of consciousness was improved, vertical gaze palsy, left hemifacial palsy (central type) and quadriplegia were noted. Brain magnetic resonance imaging (MRI) on day 9 revealed bilateral upper medial medullary infarction. In general, the vertical gaze center is thought to be present in the midbrain, including the rostral interstitial nucleus of the medial longitudinal fasciculus, posterior commissure and interstitial nucleus of Cajal. Few reports have described vertical gaze palsy due to medullary lesions. The upper medial medullary lesions, particularly the paramedian tract in the medulla, may have been responsible for vertical gaze palsy in this patient.
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PMID:[Bilateral medial medullary infarction presenting as vertical gaze palsy]. 1654 94

A 36-year-old woman presented with acute-onset right lower extremity paresthesias, dysarthria, right facial droop, and right hemiparesis. CT and MR imaging of the brain revealed extensive white matter disease and left basal ganglia infarction with dural and leptomeningeal enhancement. Differential considerations included vasculitis, granulomatous disease, and neoplasm. Chest, abdomen, and pelvis CTs were normal. Right temporal lobe biopsy revealed noncaseating granulomatous inflammation consistent with neurosarcoidosis.
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PMID:Neurosarcoidosis presenting as acute infarction on diffusion-weighted MR imaging: summary of radiologic findings. 1721 30

Deep brain stimulation of ventral intermediate nucleus (VIM-DBS) has become an established therapy for severe essential tremor (ET). The technique is however limited in some ET patients by relevant side effects such as paresthesia, dysarthria, and gait disturbances. To our knowledge, this is the first report of VIM-DBS-induced reversible hypogeusia along with retroinsular cortical deactivation under effective VIM stimulation measured with 18-fluorodexoglucose positron emission tomography. This case demonstrates that gustatory dysfunction should be considered in the pre- and postsurgical management of patients with VIM-DBS. Moreover it provides direct evidence that the thalamus acts as an important relay station in the human cerebral gustatory pathway.
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PMID:[Reversible hypogeusia during bilateral thalamic stimulation for essential tremor]. 1822 99

Prions are normal proteins present in all mammals, especially in the central nervous system (CNS) and lymphoreticular tissue. Their transformation into a highly infectious molecule gives rise to a group of diseases known as transmissible spongiform encephalopathies (TSEs), which cause vacuolar degeneration of gray matter and produce a fatal neurodegenerative disorder. Prion diseases have attracted considerable attention in recent years, and this review of the literature was designed to determine their implications for dentistry, studying the possibility of cross-transmission in the dental office and describing their oral manifestations. The main oral manifestations are dysphagia, dysarthria, paresthesias, dysesthesias, and dysgeusia. The most frequently involved oral tissues are the trigeminal ganglion, posterior third of the tongue, tonsils, and, much less commonly, alveolar nerves, gingiva, and salivary glands. Although no contagion has been reported in the dental setting to date, prions resist the usual dental sterilization systems and transmission of this type of disease remains a potential risk. It is therefore important for dentists to be aware of these diseases, to identify high-risk patients by obtaining an adequate clinical history, and to know the appropriate procedures to be followed.
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PMID:Implications of prion diseases for dentistry: an update. 1828 Sep 65

Progressive external ophthalmoplegia (PEO) can be caused by a disorder characterized by multiple mitochondrial DNA (mtDNA) deletions due to mutations in the TWINKLE gene, encoding a mtDNA helicase. We describe a 71-year-old woman who had developed PEO at age 55 years. She had cataracts, diabetes, paresthesias, cognitive defects, memory problems, hearing loss, and sensory ataxia. She had muscle weakness with ragged red fibers on biopsy. MRI showed static white matter changes. A c.908G>A substitution (p.R303Q) in the TWINKLE gene was identified. Multiple mtDNA deletions were detected in muscle but not blood by a PCR-based method, but not by Southern blot analysis. MtDNA copy number was maintained in blood and muscle. A systematic literature search was used to identify the genotypic and phenotypic spectrum of dominant TWINKLE-related disease. Patients were adults with PEO and symptoms including myopathy, neuropathy, dysarthria or dysphagia, sensory ataxia, and parkinsonism. Diabetes, cataract, memory loss, hearing loss, and cardiac problems were infrequent. All reported mutations clustered between amino acids 303 and 508 with no mutations at the N-terminal half of the gene. The TWINKLE gene should be analyzed in adults with PEO even in the absence of mtDNA deletions in muscle on Southern blot analysis, and of a family history for PEO. The pathogenic mutations identified 5' beyond the linker region suggest a functional role for this part of the protein despite the absence of a primase function in humans. In our patient, the pathogenesis involved multiple mtDNA deletions without reduction in mtDNA copy number.
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PMID:Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. 1935 76

Hemifacial spasm (HFS) is a chronic movement disorder which presents as clonic and/or tonic facial muscle contractions frequently accompanied by many other sensory (visual or auditory disturbances, pain), motor (facial weakness, trismus, bruxism, dysarthria) and/or autonomic (lacrimation, salivation) symptoms. The aim of the study was to assess the occurrence of HFS non-motor and motor-related symptoms and their responsiveness to botulinum toxin type A (BTX-A) therapy. 56 HFS patients were included in the open-label design study. Patients were examined three times: before BTX-A injection, and 2 and 12 weeks later. The occurrence of non-motor and motor-related symptoms was assessed by a special questionnaire, and the severity of HFS was rated by the Clinical Global Impression-Severity scale (CGI-S) and depression symptoms by the Beck Depression Inventory (BDI). Over 81% of the patients before BTX-A therapy reported HFS non-motor and motor-related symptoms. Almost 50% of the patients reported more than three symptoms. The most frequent symptoms were: tearing (44.5%), eye irritation (39.3%), facial paraesthesia (26.8%) and hearing of a "clicking" sound (25.0%). 2 weeks after BTX-A injection 75% of the patients did not report any symptoms and 20% reported only one or two. 3 months later the number of symptoms had increased again, with 57% of patients reporting at least one. The number of HFS non-motor and other symptoms did not correlate with the patients' age, disease duration and the presence of neuro-vascular conflict, but were positively correlated with the CGI-S and BDI scores. This study showed that muscle contractions in HFS patients are commonly accompanied by non-motor and other motor-related symptoms and most of them are reduced following BTX-A treatment.
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PMID:Hemifacial spasm non-motor and motor-related symptoms and their response to botulinum toxin therapy. 2046 63

Intravascular large B-cell lymphoma (IVL) is a rare form of diffuse large B cell lymphoma (DBCL) frequently presenting with skin and/or central nervous system (CNS) involvement. IVL involves CNS in 75 - 85% of patients and neurological symptoms include sensory and motor deficits or neuropathies, meningoradiculitis, paresthesia, hypostenia, aphasia, dysarthria, hemiparesis, seizures, transient visual loss, vertigo and impaired cognitive function. Neuroimaging discloses CNS involvement only in half of patients with neurological symptoms because there are no pathognomonic neuroradiological findings for IVL; ischemic foci are the most common presentation pattern and therefore vasculitis is the most common differential diagnosis. According to all mentioned data, diagnosis of CNS IVL requires a histopathological confirmation. Brain biopsy is absolutely indicated in patients with progressive neurological deterioration with unclear abnormalities in cerebral MR imaging. A general policy is that patients with IVL should be considered to have disseminated disease and should be treated with systemic chemotherapy. In younger patients with unfavorable features the high-dose chemotherapy with autologous stem cell transplantation should be used. Nevertheless, the course of IVL is rapidly progressive and ultimately fatal.
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PMID:Intravascular large B-cell lymphoma of central nervous system - a report of two cases and literature review. 2056 74

Mexiletine is a class IB antiarrhythmic agent. Although it is primarily used in treating ventricular arrhythmias, recent indications for use of mexiletine include chronic and neuropathic pains. At high doses, mexiletine causes drowsiness, confusion, nausea, hypotension, sinus bradycardia, paresthesia, seizures, bundle branch block, atrioventricular heart block, ventricular arrhythmias, asystole, cardiovascular collapse, and coma. A 23-year-old male patient presented to the emergency department with intentional ingestion of high-dose mexiletine. Despite decontamination and supportive treatment, his vitals deteriorated during the observation period; and he developed stupor and dysarthria. Patient then underwent hemodialysis. His vital signs and overall condition improved rapidly following hemodialysis treatment. In this case report, we aimed to emphasize hemodialysis as a useful alternative therapy for severe mexiletine intoxications.
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PMID:Hemodialysis as an alternative treatment of mexiletine intoxication. 2097 96


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