Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344232 (blurred vision)
 2,072 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical efficacy of the trihexyphenidyl was investigated in 100 patients with movement disorders. The study group consisted of 54 women and 46 men. Their ages ranged from 18 to 70 years, and their duration of illness varied from a few months to 36 years. Each patient had a videotape of the movements and a neurological examination, before administration of the drug, at the time of maximum or effective dosage, and one week after withdrawal from trihexyphenidyl. The drug was administered at an initial total daily dose of 2 mg and gradually increased to a total daily dose of 60 mg over a period of 4-6 weeks. Improvements were rated both clinically and from the videotapes. Three groups of movement disorders demonstrated a significant response to trihexyphenidyl: (1) dystonia 37%; tonic torticollis demonstrated a significantly better response than the clonic variant (80% vs. 22%). (2) rhythmic-oscillatory movements of brainstem-cerebellar origin (palatal myoclonus, pendular nystagmus, facial myokymia) 90%; (3) cerebellar tremor 75%. Among 32 responders, 17 (56%) continued taking trihexyphenidyl beyond 24 months. Side effects consisted of dryness of the mouth, jitteriness, stomatitis, blurred vision, and forgetfulness.
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PMID:Treatment of movement disorders with trihexyphenidyl. 277 91

We report a case of Creutzfeldt-Jakob disease in a 38-year-old man, transmitted by a cadaveric dural graft. In August 1985, he underwent cranial nerve decompression for hemifacial spasm and received a cadaveric dural graft for dural closure. He had been well until he began to complain of blurred vision and headache in May, 1990. He developed dementia, myoclonus and urinary incontinence over the subsequent 3 months. He was admitted to our hospital in August, 1990. On admission, he was somnolent and showed gait disturbance, myoclonus in extremities and elevated deep tendon reflexes symmetrically. The results of analysis of blood, urinary and cerebrospinal fluid were normal. The initial computed tomography (CT) and magnetic resonance imaging detected no abnormality. Electroencephalography showed typical periodic synchronous discharge (PSD). There was progressive worsening of his neurological symptoms, and this developed into mutism in September, 1990. CT, 11 months after clinical onset, showed marked enlargement of the ventricles and the sulci. In view of his rapid worsening clinical course, PSD findings on electroencephalography, and delayed progressive changes of CT findings, the diagnosis of CJD disease was made. The cadaveric dural graft was suspected as the cause of the patient's condition. Since Thadani et al reported the first case of CJD transmitted by cadaveric dural graft in 1988, 3 other cases have been reported. This is most likely the 5th reported case of Creutzfeldt-Jakob disease transmitted by cadaveric dural graft.
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PMID:[Creutzfeldt-Jakob disease transmitted by cadaveric dural graft: a case report]. 845 5

A case of Creutzfeldt-Jakob disease (CJD) is reported in a 48-year-old woman who had received a cadaveric dural graft after a clipping procedure of a cerebral artery aneurysm in September 1985. In November 1994, she noticed unsteady gait and blurred vision at first. She successively developed ataxic gait, dementia and myoclonus, and became mute. Serial CT scans revealed no abnormal findings, and serial EEGs showed diffuse slow activity without periodic discharge. The patient died in March 1996, 17 months after the initial symptoms. A brain autopsy demonstrated extensive spongiform degeneration in the cerebral neocortex, thalamus, striatum, and cerebellum especially in the granular layer, with associated astrocytosis and marked neuronal loss. Immunohistochemically, PrP plaques, so called kuru-type plaques, were extensively distributed throughout the cerebrum and cerebellum. Moreover, some of these plaques resembled "florid" plaques, which were surrounded by a zone of spongiform change. The PrP gene analysis of her blood and brain tissue revealed no mutations with homozygosity, Met/Met, at codon 129. The unusual features of this case, that is the absence of PSD on EEG and the widespread presence of kuru-type plaques including "florid" plaques, may be similar to the features of "new variant" CJD.
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PMID:[Creutzfeldt-Jakob disease with a widespread presence of kuru-type plaques after cadaveric dural graft replacement. An autopsy case]. 943 Sep 98

Corneal clouding is uncommon in infants and children but when present in this age group, it is often associated with mucopolysaccharidoses or Fabry disease. This report describes the case of an 11-year-old male who demonstrated poor weight gain, short stature, segmental myoclonus, and learning problems from 5 years of age followed by general weakness and extremely poor balance. Corneal clouding was evident as a result of a blurred vision complaint at 9 years of age. Both urine metabolic screening for mucopolysaccharidoses and analysis of lysosomal enzymes displayed negative findings. Clinical conditions worsened, including ptosis, progressive weakness, and positive Gowers' sign. Oral glucose lactate stimulation test was positive, therefore a muscle biopsy was performed at 11 years of age. Light microscopy of muscle biopsy disclosed abundant ragged red fibers; electron microscopy revealed abnormal mitochondria in terms of tubular cristae, concentrated cristae, stacking cristae, and round granular patterns of inclusion bodies in the matrix. Thus mitochondrial disease was diagnosed. We conclude that mitochondrial disease should be added to the list of differential diagnosis of corneal clouding in children, especially in cases with normal urine metabolic screening for mucopolysaccharidoses or when assays of lysosomal enzymes appear normal.
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PMID:Corneal clouding: An infrequent ophthalmic manifestation of mitochondrial disease. 1676 25

Here, we report a Chinese case of Creutzfeldt-Jakob disease (CJD) with a rare mutation in the prion protein gene (PRNP) leading to an exchange of amino acid from valine (Val) to isoleucine (I) at codon 203 (V203I). The 80-y-old male presented with sudden memory loss, rapid loss of vocabulary, inattention and slow responses, accompanied by dizziness, blurred vision and ataxia. Two weeks after admission, he exhibited tremor, myoclonus and bilateral Babinski signs. At the end of the clinical course, he developed severe akinetic mutism. The cerebrospinal fluid (CSF) was positive for 14-3-3 protein. Increased bilateral signal intensity in the frontal and parietal lobes was seen on diffusion-weighted imaging (DWI); periodic activity was recorded on an electroencephalogram (EEG). There was no family history of similar symptoms. The total clinical course was approximately two months.
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PMID:Rare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease. 2376 40

The purpose of this study was to develop the Glasgow Antipsychotic Side effects Scale for Clozapine Japanese version (GASS-C-J) and examine its reliability to assess clozapine-related side effects. We developed the GASS-C-J using forward and backward translation. Semantic equivalence of the GASS-C-J to the GASS-C was confirmed by the original author. We then administered the GASS-C-J twice to 109 patients on clozapine treatment at two psychiatric hospitals in Japan. We assessed the internal consistency and test-retest reliability of the GASS-C-J using Cronbach's alpha and weighted kappa coefficient, respectively. We also examined if discrepancies in each GASS-C-J item score between the first and second rating were correlated with items of the Brief Evaluation of Psychosis Symptom Domains (BE-PSD). The Cronbach's alpha coefficient of the GASS-C-J at the first and second rating was 0.78 (95% CI: 0.72 to 0.84) and 0.82 (95% CI: 0.76 to 0.88), respectively. The weighted kappa coefficient of individual and total GASS-C-J item scores ranged from 0.45 to 0.88. Some symptom domains were correlated with discrepancies in specific items of the GASS-C-J: psychotic symptoms and nausea/vomiting (rs = 0.27), thirst (rs = 0.31), and appetite/weight gain (rs = 0.27); disorganized thinking and urinary incontinence (rs = 0.26); depression/anxiety and myoclonus (rs = 0.25), hypersalivation (rs = -0.27), and blurred vision (rs = -0.22). These findings demonstrate that the GASS-C-J can be used in clinical and research settings as a reliable scale to assess clozapine-related side effects.
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PMID:Reliability of the Glasgow Antipsychotic Side-effects Scale for Clozapine Japanese version (GASS-C-J). 3255 6