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)

Statistically identified information on the relationships between the sites of lesions in intracerebral hemorrhage (ICH), risk factors such as a smoking or drinking habit, anamnesis, and biochemical data through blood tests will extend assistance to neuromedical clinicians on their daily clinical duties. It will provide them with a useful guide to determine the method of treatment. Also, it will be a basic research material for their clinical studies on diagnosis, progress, or prognosis in ICH. In order to obtain such statistics with the help of the computer, we need to have a computationally effective image database system. As is generally known, medical image data especially requires a great amount of storage; high-speed processing techniques are therefore also needed to deal with such data effectively. In addition, it is desired that we have outputs from the analysis edited with well-visualized effect, using 3D computer graphics, etc. These are why most existing image processing systems have been designed to work on comparatively large-scale computers. So far as we know, it is hard to find a practical and inexpensive personal computer-based application system for visualized statistical analysis of lesional images in ICH. We have developed a desk top computer-based program for statistical analysis of lesional image data of ICH. With this system, we can organize a medical image database that consists of the personal data of patients with ICH (sex, age, occupation, diagnosis, symptoms, part of physical disorder, etc.), risk factors, anamnesis (cerebral apoplexy, hypertension, hypotension, corpulence, diabetes, hyperlipidemia, atrial fibrillation, valvular endocarditis, etc.), biochemical data of blood, and lesional image data from CT or MRI. This system consists of the following components: 1) database management, 2) information retrieval (IR), 3) lesional image processing, 4) statistical analysis, and 5) prognostic prediction. The images are drawn manually on prescribed data sheets by tracing CT or MRI films and are read through the image scanner; then the compressed data of the digitized images is recorded in the database. Each recorded image data consists of the following two components: the frame image that corresponds to the contour of tissues of interest on the corresponding sliced section, and the actual image that corresponds to the lesion itself. In our system, these two images are separately stored and managed so that we can effectively perform subsequent image analysis. Other variables in the database (risk factors, anamnesis, etc.) are mainly used as search keys for making the aggregate of image data by the IR subsystem. In any aggregate, its elements, namely image data, have common medical background descriptions with the search keys. These aggregates can be used as input for the lesional image processing subsystem. With this subsystem, we can obtain the accumulated distribution of frequencies within a specified range of any sliced section, display planar color maps and profiles associated with the distribution, reconstruct it in 3D form, perform transformations of 3D images (zooming, enhancement, rotation, etc.), and test the significant difference of frequencies between any two different sites. We have been making practical use of this system to find the neurological relationship between the symptom (dysarthria, and paralysis of upper/lower limbs) and the site of lesion with cerebral infarction in pons. This study is quite important since the distributions of pyramidal tract related to the above symptom in pons are not well-known compared to those in cerebral cortex, internal capsule, or cerebral peduncle. With our system, we have obtained several findings expected to be helpful for this study. However, since this study is still in the initial phases, we will only present the outcome as a working example of our system. Our system was originally developed for analyzing lesional images with ICH. However, it could
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PMID:A desk top computer program for visualized statistical analysis of lesional images in intracerebral hemorrhage. 859 83

The onset of Friedreich ataxia (FA) was before 10 years of age in 36 out of 95 personally observed patients. We studied the clinical and laboratory findings of these childhood onset patients. Mean onset age +/- SD was 6.3 +/- 2.4 years. Gait and stance ataxia and lower limb areflexia were constant, dysmetria, dysarthria, Babinski sign, pes cavus, scoliosis and decreased vibration sense were present in the majority of patients. Higher occurrence of diabetes in childhood onset cases (25%) was the only statistical difference in comparison with later onset patients. Mean onset age of diabetes was 21.1 +/- 6.9 years and all patients required insulin. ECG was abnormal in 72% of the patients and echocardiographic evidence of hypertrophic cardiomyopathy was found in 43%. Linkage analysis, performed in 10 families, showed no recombination between the polymorphic markers of the 9q13-21.1 region and the disease locus with a peak lod score of 4.21 at a recombination fraction = 0.00.
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PMID:Childhood onset of Friedreich ataxia: a clinical and genetic study of 36 cases. 867 22

We report here on the characterization of a mutation in the ceruloplasmin gene in a 45 year old woman with insulin-dependent diabetes mellitus who presented with the recent onset of gait disturbance and dysarthria. Physical examination revealed an ataxic gait, scanning speech and retinal degeneration. Magnetic resonance imaging of the brain was consistent with increased basal ganglia iron content and laboratory studies revealed a low serum iron concentration and no detectable serum ceruloplasmin. Nucleotide sequence analysis of the ceruloplasmin gene from this patient revealed a G to A substitution in exon 15 resulting in a nonsense mutation at amino acid 858 (Trp858ter). The patient's younger, neurologically asymptomatic brother was also found to be homozygous for this mutation. Taken together the clinical and genetic data support the concept of an essential and unique role for ceruloplasmin in human iron metabolism. Identification of this kindred extends the spectrum of ceruloplasmin gene mutations resulting in this autosomal recessive, late-onset neurodegenerative disease and highlights the importance of recognizing aceruloplasminemia as a genetic cause of diabetes and neurologic disease.
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PMID:Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. 878 43

A 60-year-old diabetic male presented with transient ischemic attacks. Initial neurological examination and head CT were normal. Dysarthria, ataxia, delirium, and lethargy developed. A diagnosis of cryptococcal meningitis was made after lumbar puncture and treatment with intravenous amphotericin B and 5-fluorcytosine was begun. A repeat head CT showed an anterior cerebral artery territory infarct. His condition worsened and he died of associated complications three weeks after admission. The case is used to discuss the association between cryptococcal meningitis and diabetes, transient ischemic attacks, and vasculitis with cerebral infarction.
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PMID:Case of the month: July 1997--diabetic male with transient ischemic attacks. 945 81

We describe clinical, biochemical, and molecular studies on a Taiwanese family with X-linked recessive bulbospinal neuronopathy. There were three probands and five female carriers among the 23 members examined. The clinical manifestations included progressive muscle weakness, diffuse fasciculation, postural tremor, muscle cramps, dysarthria, dysphagia, diabetes, and gynecomastia. Phenotypic expression varied among the affected subjects. Two carriers also had postural tremor and perioral fasciculation. Endocrine tests were normal except for a mild increase in serum testosterone and/or growth hormone in one patient and one carrier. Type IV hyperlipoproteinemia was observed in two patients, one carrier, and one healthy offspring. Molecular genetic studies confirmed elongation of the CAG triplet repeat in exon 1 of the gene for the androgen receptor. Sequence analysis showed that there were 42 to 43 CAG repeats in the three probands and 42 to 45 in the five carriers. The mutant allele had a tendency to increase by one or two repeats from one generation to the next. The length of CAG repeats at which the mutant allele became unstable was shorter in our family than in previous reports. The normal allele was also unstable and had a tendency to shrink by one of five repeats during transmission. These findings suggest that the number of CAG triplet repeats is variable in both the mutant and normal alleles.
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PMID:X-linked recessive bulbospinal neuronopathy: clinical and molecular studies in a Taiwanese family. 961 61

Eighty-four adult patients were recruited from four centres in Spain to evaluate the efficacy and safety of low-dose (0.1 mg/kg per day) oral tacrolimus plus corticosteroid immunosuppression in liver transplantation. The median daily dose of tacrolimus was increased during the first 3 weeks of therapy from an initial dose of 0.1 mg/kg per day to a maximum of 0.145 mg/kg per day and was subsequently decreased gradually to a minimum of 0.076 mg/kg per day at 1 year. At 7 days posttransplantation, 87.7% of patients had trough whole blood levels of tacrolimus within the therapeutic range (5-20 ng/ml), and the median levels remained fairly constant during the rest of the year (10.1-11.8 ng/ml). None of the patients required intravenous administration of tacrolimus. At 1 year, Kaplan-Meier estimates showed that 73.8% of the patients were receiving tacrolimus monotherapy without the need for corticosteroids. One-year patient and graft survival were 75.9% and 72.3%, respectively. The incidence of acute rejection was 51.2%; 9.5% of cases resolved spontaneously without antirejection therapy and 10.7% were corticosteroid resistant. Only 1 patient (1.2%) developed chronic rejection. The most important adverse events were hypertension (45.2%), tremor (44.0%), diabetes mellitus (33.3%), diarrhoea (31%) and nephrotoxicity (29.8%). Severe neurotoxicity-like convulsions (4.8%), dysarthria (9.5%), delirium (1.2%), coma (1.2%) and the need for haemodialysis (3 patients) were uncommon. In conclusion, low-dose oral tacrolimus immunosuppression is associated with low toxicity without compromising efficacy.
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PMID:Efficacy and safety of oral low-dose tacrolimus treatment in liver transplantation. 966 92

Epidemiology of stroke in the elderly in Thailand was conducted from August 1994 to October 1996. The total of 3,036 Thai elderly were included in this study. They represented the elderly population from four regions; Central Region (615 elderly, Nakhon Pathom Province), Northern Region (840 elderly, Lampang Province), North-Eastern Region (706 elderly, Sakon Nakhon Province), and Southern Region (857 elderly, Ranong Province). All elderly in these selected areas received general physical examinations and complete neurological examinations from neurologists. Demographic data concerning each individual was recorded by specially trained nurses. Data included age, sex, occupation, education, drug usage, alcohol, smoking and pre-existing diseases. Blood was taken from each subject for complete blood count, fasting blood sugar, cholesterol, triglyceride, high density lipoprotein cholesterol and VDRL. Data on physical examinations were recorded with particular attention to blood pressure, carotid bruit, cardiac murmurs, cardiac arrhythmia, speech, posture, gait, frontal lobe releasing signs, Babinski sign and focal neurological deficit. Thirty-four stroke patients were identified from 3,036 elderly (prevalence rate of 1.12 per cent). There were 12 stroke patients from Central Region (prevalence rate of 1.99 per cent), 5 from Northern Region (0.6 per cent), 4 from North-Eastern Region (0.6 per cent) and 13 from Southern Region (1.5 per cent). Hypertension was the main risk factor for stroke in this study whereas diabetes mellitus, smoking, alcohol consumption, hyperlipidemia and underlying heart diseases were insignificant risk factors. The prevalence of hypertension in Thai elderly was ranging from 16.7 to 47.2 per cent (criteria over 140/90 mmHg) or 6.1 to 24.8 per cent (criteria over 160/90 mmHg). Prevalence of smoking and alcohol consumption in Thai elderly ranged from 19.5 per cent (Sakon Nakhon) to 62.1 (Lampang) and 16.75 per cent (Nakhon Pathom) to 33.70 per cent (Lampang) respectively. Data from physical examinations revealed that dysarthria, hemiplegic gait and Babinski sign were the significant signs for diagnosis of stroke in the community setting. The prevalence of carotid bruit, cardiac murmur and cardiac arrhythmia were ranging from 1.3 to 1.8 per cent, 3.1-7.1 per cent and 0.8-1.4 per cent respectively. From this study, it can be concluded that stroke prevention is the best policy for stroke management. Stroke prevention measures should thus be aimed at the high risk elderly group. This is best achieved by identifying risk factors among them and then controlling these risk factors properly.
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PMID:Epidemiology of stroke in the elderly in Thailand. 967 86

Friedreich's ataxia (FRDA) is the most frequent cause of recessive ataxias. Neurological examination shows oculo-motor ataxia, dysarthria, limbs ataxia, tendon areflexia, pyramidal signs and sensory deficits. Extra-neurological involvement consists in osteoarticular deformities, cardiomyopathy and diabetes mellitus. Neurological deficits and osteoarticular deformities both contribute to the gait disorder, which is the main disabling deficit. In 98% of the cases, a trinucleotide repeat is found in chromosome 9. Gene implicated in FRDA codes for a protein called frataxin. Experimental studies have revealed iron accumulation in mitochondria of neurons and cardiomyocytes, suggesting that frataxin plays a determinant role in intramitochondrial iron homeostasis. These discoveries are now considered as a clue for new strategies of treatment in this hereditary disease.
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PMID:[Friedreich's ataxia: recent developments and prospects for treatment]. 1033

We report a 49-year-old female with hereditary ceruloplasmin deficiency with hemosiderosis. There was a family history of the same symptoms; her brother showed hypoceruloplasminemia and decrease of the serum copper content. On physical examinations, dementia, dysarthria, downbeat nystagmus, sensorineural hearing disturbance, orthostatic hypotension, retinitis pigmentosa, diffuse goiter, and cerebellar ataxia were noted. Laboratory examinations disclosed leukopenia, diabetes mellitus, hypothyroidism, decrease of copper content in the serum and urine. Serum ferritin concentration was remarkably increased. Serum ceruloplasmin could not be detected. Biopsy of the liver showed that iron content in the liver was increased. On MRI study, dentate nucleus of the cerebellum, basal ganglia, and the liver showed low intensity in both T1 and T2 weighted images. A nonsense mutation in the ceruloplasmin gene was found in this patient. Systemic iron deposition and tissue damage were considered as caused by deficiency of function of ceruloplasmin as ferroxidase. To our knowledge, the characteristic combination of the clinical signs in this patient has not been reported.
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PMID:[A case of hereditary ceruloplasmin deficiency with hemosiderosis]. 1039 Oct 79

We describe two sisters with early onset gait ataxia, rapid disease progression, absent or very mild dysarthria and upper limb dysmetria, retained knee jerks in one, slight to moderate peripheral nerve involvement, and diabetes. Molecular analysis showed that they are compound heterozygotes for GAA expansion and a novel exon 5a missense mutation (R165P). This mutation appears to be associated with an atypical but not milder Friedreich ataxia phenotype.
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PMID:Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene. 1066 23


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