Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 44-year-old man suffered from repeated impairment of consciousness associated with flapping tremor, myoclonus and generalized convulsions, and died in coma 6 months after admission. He had had a psychosomatically underdeveloped childhood, with a propensity for legumes without a family history of the same or a record of consanguinity. On admission, he had disturbed consciousness and emaciation without other physical abnormalities. The EEG revealed diffuse slow waves with occasional appearance of triphasic waves. A high level of serum citrulline (534.7 nmol/ml) was recognized and the assay of urea cycle enzymes in the liver demonstrated decreased argininosuccinate synthetase (ASS) activity (0.062 U/g liver, 7.4% of that in normal liver), although no kinetic abnormality was found. Accordingly he was diagnosed as having type II citrullinemia. In addition, this case could be classified as cluster type of localization of the ASS in the liver by immunohistochemical study. There were characteristic findings concerning his clinical picture and laboratory data, such as a significant correlation between the grade of disturbed consciousness and arterial blood gas pH (r = 0.61, p less than 0.01). However, the blood ammonia level did not always correlate with the severity of disturbed consciousness. Oral treatment with sodium citrate and sodium benzoate was very effective, though transiently, for disturbed consciousness in this case. Pathological findings of the autopsied liver were fatty change and fibrosis. Neuropathologically, characteristic findings were brain edema with cerebellar tonsilar herniation, laminar necrosis with spongy formation in cerebral cortex, and Alzheimer type II glia. The relationship between citrullinemia and other hepatic encephalopathy was also discussed.
 ...
PMID:[An autopsied case of type II citrullinemia--transient effectiveness with either citrate or benzoate to the consciousness disturbance]. 269 30

The authors report the development of a rapidly progressive encephalopathy marked by confusion, myoclonus, seizures, coma, and death in a group of women with renal failure who received an oral solution of citrate and aluminum hydroxide gel concurrently. Two patients were documented as having marked hyperaluminemia far exceeding blood aluminum levels encountered in the chronic state of aluminum intoxication. We ascribe the toxicity to enhanced gastrointestinal absorption of aluminum when complexed with citrate.
 ...
PMID:Acute aluminum toxicity associated with oral citrate and aluminum-containing antacids. 291 1

We studied the effect of seizures and myoclonus following cardiopulmonary resuscitation (CPR) on the outcome of all comatose adult survivors of CPR over an 8-year period. Either seizures or myoclonus occurred in 50 of 114 patients (44%): seizures in 41 patients (36%) and myoclonus in 40 (35%). Status epilepticus or status myoclonus occurred in 36 patients (32%), and 19 (17%) had myoclonic status epilepticus (MSE). Seizures and myoclonus per se were not significantly related to outcome, but status epilepticus, status myoclonus, and, particularly, MSE were predictive of poor outcome as judged by survival and recovery of consciousness.
 ...
PMID:Outcome from coma after cardiopulmonary resuscitation: relation to seizures and myoclonus. 334 43

Electroencephalographic (EEG) and brainstem auditory evoked response (BAER) findings have not been previously described and correlated with the pathological findings in an autopsied case of neonatal nonketotic hyperglycinemia (NKH). A 38 week gestation male infant presented within two hours of age with stimulus-evoked myoclonus and seizures in the context of progressive coma. Electrographic studies demonstrated cortical myoclonus and electrical seizures exquisitely localized to the midline region as well as a suppression-burst background disturbance. These vertex spike discharges were elicited after tactile stimulation. Prolonged intra-axial latencies for waves III and V were recorded on the BAER on the second day of life. Spongy leukodystrophy was noted on gross and microscopic examination of the brain involving all myelinated tracts especially in the reticular activating system, cerebellar peduncles and optic tracts. Neuropathological confirmation of brainstem involvement emphasizes the role of the nonspecific diffuse somatosensory projection system in the generation of myoclonus and stimulus-evoked seizures in the comatose patient with NKH.
 ...
PMID:Neurophysiological and anatomical correlations in neonatal nonketotic hyperglycinemia. 376 70

Irrespective of the etiology, a water and electrolyte imbalance provoking a hypo- or hyperosmolar state causes metabolic encephalopathy, as may occur with any metabolic disturbance. The pathophysiology of metabolic encephalopathy relies on a diffuse neuronal dysfunction which occasionally shows a focal maximum. To the clinician it presents in the form of nonspecific symptoms or signs, such as altered level of alertness or awareness of the environment, or impaired attention, cognition or orientation. When the onset of hypo- or hyperosmolality is rapid, delirium may develop or the level of consciousness can decrease to the point of coma. Myoclonic jerks, gait disturbance and focal or generalized fits are additional nonspecific signs. When the water and electrolyte imbalance coincides with or is caused by brain disease, the signs of the two conditions are added. On the other hand, complicating hemorrhages, sinus thrombosis, or brainstem herniation or compression may be taken for a primary structural brain lesion, and the water and electrolyte imbalance may easily be overlooked. Pathophysiology, symptoms and signs, and therapy of hypo- and hyperosmolar states are discussed. Central pontine myelinolysis is considered separately.
 ...
PMID:[Neurologic manifestations of osmolality disorders]. 389 13

Cardiopulmonary arrest is a test of the brain's tolerance to global ischemia. New insights into the pathophysiology of global ischemia have led to the potential use of early prophylactic anticonvulsants, hypothermia, barbiturate coma, glucose manipulations, calcium-blocking agents, and hemodilution. A wide spectrum of neurologic sequelae may follow global ischemia, ranging from brain death, vegetative states, and impairment of higher intellectual function to syndromes of amnesia and cortical blindness, post-anoxic myoclonus, delayed leukoencephalopathy, and spinal stroke. The distinctive features of these sequelae and their pathophysiologic aspects are discussed. Special attention is given to brain death and prognostication.
 ...
PMID:Cardiopulmonary arrest. Pathophysiology and neurologic complications. 390 62

Among patients with renal failure, there have been impressive modifications of both the duration and quality of life as a result of dialysis, renal transplantation, and improved medical management. However, patients who have renal failure continue to manifest a variety of neurologic disorders. Patients with chronic renal failure who have not yet received dialytic therapy may develop a symptom complex progressing from mild sensorial clouding to delirium and coma, with tremor, asterixis, multifocal myoclonus, and seizures. Even after the institution of otherwise adequate maintenance dialysis therapy, patients may continue to be afflicted with more subtle nervous system dysfunction, including impaired mentation, generalized weakness, and peripheral neuropathy. The central nervous system disorders of both untreated renal failure and that persisting despite dialysis are referred to as uremic encephalopathy. The dialytic treatment of end stage renal disease has itself been associated with the emergence of two distinct, new disorders of the central nervous system: Dialysis dysequilibrium and dialysis dementia. The dialysis disequilibrium syndrome consists of headache, nausea, muscle cramps, obtundation and seizures, and is a consequence of the initiation of dialysis therapy in some patients. Dialysis dementia is a progressive, generally fatal encephalopathy which affects patients on chronic hemodialysis. This disease also appears to be a complication of the therapy for renal failure.
 ...
PMID:Pathogenesis of dialysis encephalopathy. 636 3

Patients with renal failure may manifest a variety of neurologic disorders. Patients with chronic renal failure who have not yet received dialytic therapy may develop a symptom complex progressing from mild sensorial clouding to delirium and coma, with tremor, asterixis, multifocal myoclonus, and seizures. After the institution of adequate maintenance dialysis therapy, patients may continue to be afflicted with more subtle nervous dysfunction, including impaired mentation, generalized weakness, and peripheral neuropathy. These central nervous system disorders are referred to as uremic encephalopathy. The dialytic treatment of end-stage renal disease has itself been associated with the emergence of two distinct, new disorders of the central nervous system; dialysis dysequilibrium and dialysis dementia. The dialysis disequilibrium syndrome consists of headache, nausea, muscle cramps, obtundation, and seizures, and is a consequence of the initiation of dialysis therapy in some patients. Dialysis dementia is a progressive, generally fatal encephalopathy which affects patients on chronic hemodialysis. There are at least three different forms of dialysis encephalopathy: sporadic, epidemic; and that associated with renal disease in children. In addition to the foregoing neurologic diseases which are specifically related to uremia and/or dialysis, a number of other neurologic disorders occur with increased frequency in patients with end-stage renal disease on chronic hemodialysis. These include subdural hematoma, electrolyte disorders, vitamin deficiencies, drug intoxication, hypertensive encephalopathy, and acute trace element intoxication. Renal transplantation is associated with a variety of central nervous system infections, reticulum cell sarcoma, and central pontine myelinosis. The present manuscript will review the clinical, structural, and biochemical components of those neurologic disorders which are peculiar to the uremic state and its treatment with dialysis.
 ...
PMID:Uremic encephalopathies: clinical, biochemical, and experimental features. 675 30

The diagnostic value of the EEG in Creutzfeldt-Jakob disease is based not only on the presence of a typical pattern of periodic discharges but also on the appearance of cyclic changes in the EEG. The pattern of the cyclic EEG changes was analysed in 9 patients with Creutzfeldt-Jakob disease. The changes appear when the level of wakefulness is reduced. The alternating pattern rate increases as the disease progresses and accounts for as much as 100 per cent of the tracing when the patient is in coma. During the cyclic changes the cardiorespiratory rate is always higher in phase A than in phase B. Hypertonic fits and most myoclonic jerks are present only in the A-phase, whereas partial myoclonus and fasciculations are present in both phases. The cyclic change pattern in Creutzfeldt-Jakob disease reveals a progressive. The cyclic change pattern in Creutzfeldt-Jakob disease reveals a progressive, serious involvement of the waking system.
 ...
PMID:The significance of cyclic EEG changes in Creutzfeldt-Jakob disease: prognostic value of their course in 9 patients. 704 44

Four patients with an acute overdose of carbamazepine were examined with serial blood level determinations. The clinical spectrum consisted of coma, respiratory depression, seizures, myoclonus, nystagmus, hyperreflexia, hyporeflexia, delayed gastric emptying with cyclic coma, ataxia, sinus tachycardia, and atrioventricular conduction delay. Carbamazepine elimination half-lives varied from 10 to 29 hours, and in one case carbamazepine-10,11-epoxide was measured and had a half-life of 24 hours.
 ...
PMID:Acute carbamazepine toxicity resulting from overdose. 719 79


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>