Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with severe pyruvate carboxylase deficiency presented at age 11 weeks with metabolic decompensation after routine immunization. She was comatose, had severe lactic acidemia (22 mM) and ketosis, low aspartate and glutamate, elevated citrulline and proline, and mild hyperammonemia. Head magnetic resonance imaging showed subdural hematomas and mild generalized brain atrophy. Biotin-unresponsive pyruvate carboxylase deficiency was diagnosed. To provide oxaloacetate, she was treated with high-dose citrate (7.5 mol/kg(-1)/day(-1)), aspartate (10 mmol/kg(-1)/day(-1)), and continuous drip feeding. Lactate and ketones diminished dramatically, and plasma amino acids normalized, except for arginine, which required supplementation. In the cerebrospinal fluid (CSF), glutamine remained low and lysine elevated, showing the treatment had not normalized brain chemistry. Metabolic decompensations, triggered by infections or fasting, diminished after the first year. They were characterized by severe lactic and ketoacidosis, hypernatremia, and a tendency to hypoglycemia. At age 3(1/2) years she has profound mental retardation, spasticity, and grand mal and myoclonic seizures only partially controlled by anticonvulsants. The new treatment regimen has helped maintain metabolic control, but the neurological outcome is still poor.
 ...
PMID:Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate. 1058 40

Heterotopic ossification, or myositis ossificans, denotes true bone in an abnormal place. The pathogenic mechanism is still unclear. A total of 643 patients (mean age, 9.1 years) admitted for neuropediatric rehabilitation were analyzed retrospectively with respect to the existence of neurogenic heterotopic ossification. The purpose of this study was to obtain information about incidence, etiology, clinical aspect, and consequences for diagnosis and therapy of this condition in childhood and adolescence. Heterotopic ossification was diagnosed in 32 patients (mean age, 14.8 years) with average time of onset of 4 months after traumatic brain injury, near drowning, strangulation, cerebral hemorrhage, hydrocephalus, or spinal cord injury. The sex ratio was not significant. In contrast to what has been found in adult studies, serum alkaline phosphatase was not elevated during heterotopic ossification formation. A persistent vegetative state for longer than 30 days proved to be a significant risk factor for heterotopic ossification. The incidence of neurogenic heterotopic ossification in children seems to be lower than in adults. A genetic predisposition to heterotopic ossification is suspected but not proven. As a prophylactic regimen against heterotopic ossification we use salicylates for those patients in a coma or persistent vegetative state with warm and painful swelling of a joint and consider continuous intrathecal baclofen infusion and botulinum toxin injection for those patients with severe spasticity. We prefer to wait at least 1 year after trauma before excision of heterotopic ossification.
 ...
PMID:Heterotopic ossification in childhood and adolescence. 1086 85

A 36-year-old woman without overt coronary risk factors was admitted to hospital with coma about 9 hours after mass self-injection of insulin (1,500 units). Laboratory investigation revealed severe hypoglycemia and hyperinsulinemia. During the treatment of her hypoglycemia, circulatory collapse occurred. The ECG, echocardiogram, and elevation in troponin T suggested a diagnosis of myocardial infarction. Although the patient became apallic and developed systemic spasticity due to hypoglycemic brain damage, her hemodynamics improved with supportive care alone. Coronary angiography and myocardial scintigraphy performed later demonstrated a broad area of myocardial damage despite intact coronary artery circulation. The authors hypothesize that temporary coronary arterial narrowing or coronary arterial vasospasm induced by severe hyperinsulinemia contributed to the pathogenesis of the myocardial infarction. The possibility of myocardial infarction should be considered in patients with acute insulin poisoning.
 ...
PMID:Myocardial infarction with acute insulin poisoning--a case report. 1126 89

The authors report the case of a young man who suffered multiple injuries in a motor vehicle accident, the most significant of which arose in the brain, creating an unusual clinical syndrome. After experiencing an initial coma for several days, the patient was found to have a right-sided homonymous hemianopsia and a right hemiparesis, which was more marked at the shoulder and was accompanied by preservation of finger movement. Dystonic movements appeared 2 months later and progressed, along with increased spasticity on volition, to severe uncontrolled arm movements at 2 years postinjury. This motor disorder continued to worsen during the following 6 years prior to the patient's death. At autopsy, the left side of the brain was observed to have marked atrophy of the optic tract, a partial lesion of the posterior portion of the medial segment of the globus pallidus (GP), and a reduction in the size of the internal capsule at the level of the GP, suggesting impaired circulation to these areas at the time of injury. The isolated lesion of the internal segment of the GP was the presumed cause of the dystonia, acting through an alteration in thalamic inhibition. The atrophic subthalamic nucleus was the probable cause of the hemiballismus. The authors speculate that this and other delayed and progressive features of this case were the result of an active, but disordered, adaptive process that failed to compensate and, instead, caused even greater problems than the original injury.
 ...
PMID:Delayed onset of hemidystonia and hemiballismus following head injury: a clinicopathological correlation. Case report. 1121 70

Patients surviving severe traumatic brain injury (TBI) often suffer from residual impairments in motor control, communication skills, cognition and social behaviour. These distinctly hamper their capability to return to their 'pre-trauma' activity. Comprehensive and integrated rehabilitation programmes initiate, during the acute phase, a prolonged treatment process which starts at the most sophisticated medical systems. There is no clear end point for the treatment of these patients, since the recovery process and the rehabilitation activity may continue for years, even after patients return home to live with their families. The inherent inability to make a firm early prediction regarding outcome of patients and the late appearance of additional symptoms stress the need for a comprehensive close long-term follow-up. The following presentation concerns the description of the treatment strategy and long-term improvement of a 22-year-old male who suffered from very severe TBI. On admission to the emergency room, he was in the decerebrated position and his Glasgow Coma Scale (GCS) was at the lowest (3). The focus of this presentation is on the recovery of motor function. The initial motor disabilities included weakness in all four limbs, in particular left hemiplegia, and right hemiparesis with severe bilateral ataxic elements and a marked tremor of the right arm. Range of motion was limited in hips, and he suffered from stiff trunk and neck. Goals of physiotherapy were directed towards improving range of motion (ROM) and active movement. Casting, use of orthoses, biofeedback, hydrotherapy, hippotherapy, medication and nerve blocks for reducing spasticity were timely applied during the process. The motor improvement in this very severe TBI patient who is now over 3 years post-injury still continues and has a functional meaning. He has succeeded in being able to stand up by himself from a chair and is able to walk unaided and without orthoses for very short distances--up to five steps. He is able to drink soup without assistance and play a few notes on the piano. Marked cognitive improvement occurred as well. It is concluded that motor improvement may be evident over long periods of time and various timely interventions may assist in the process.
 ...
PMID:Combined motor disturbances following severe traumatic brain injury: an integrative long-term treatment approach. 1142 91

Severely brain-injured patients often suffer from disabilities and psycho-social handicaps. Early rehabilitation aims at improving their motor and functional recovery while preventing or treating complications as soon as possible. In this review we look at some issues encountered in early rehabilitation. We illustrate our discussion with data from 876 French traumatic brain injury patients admitted over the course of 1 year at 18 rehabilitation units that were asked for details of their current practice. Preservation of vital functions follows standardized protocols, but rehabilitation is more controversial. Few controlled trials are available. Good agreement exists among clinicians about prevention of orthopedic complications and treatment for spasticity. However, little consensus exists concerning treatment of non-pyramidal hypertonia and spasms or about procedures that can be undertaken to improve arousal from a coma or vegetative state. Finally, we look at other specific issues of early rehabilitation, namely prediction of outcome, psychological difficulties of patients and their families, efficiency and cost-effectiveness.
 ...
PMID:Early rehabilitation after severe brain injury: a French perspective. 1148 56

Peripheral nerve blockade is one of the therapeutic options for spasticity of various muscles. Percutaneous nerve stimulation allows accurate location of nerves and neurolysis can be performed using intraneural injection of 65% ethanol or 5 to 12% phenol. Spastic contraction of various muscle groups is a common source of pain and disability which prevents efficient rehabilitation. Neurolytic blocks are possible in most of motor nerves of the upper and lower limbs and main indications are spastic sequelae of stroke and spinal trauma but also of multiple sclerosis, cerebral palsy and chronic coma. The use of percutaneous nerve stimulation allows accurate location and four nerves are more frequently treated: pectoral nerve loop, median, obturator and tibial nerves. In patients with spasticity of the adductor thigh muscles, nerve blocks are performed via a combined approach using fluoroscopy and nerve stimulation to identify the obturator nerve. No complications occur and minor side effects are transient painful phenomena during injection. These approaches have proved to be accurate, fast, simple, highly successful and reproducible. Percutaneous neurolytic procedures, should be performed as early as possible, as soon as spasticity becomes painful and disabling in patients with neurological sequelae of stroke, head trauma or any lesion of the motor neurons.
 ...
PMID:[Alcohol neurolytic blocks for pain and muscle spasticity]. 1274

Intrathecal baclofen has been successfully used for control of severe spasticity. Baclofen, an agonist of GABA-B receptor, has other potential effects on pain and recovery from coma. Sporadic episodes of dramatic recovery from persistent vegetative state are reported after intrathecal administration of baclofen. There are also reports on the use of baclofen for neuropathic pain including post-stroke central pain syndrome. Baclofen is also used for control of dystonia due to cerebral palsy or reflex sympathetic dystrophy. On the other hand, epidural spinal cord stimulation has been used for pain, spasticity, dystonia, or attempt to improve deteriorated consciousness, though the effects seem variable and modest. Similarity between baclofen and spinal cord stimulation is interesting in that both involves in spinal GABAergic system. The GABAergic system in the spinal cord plays a pivotal role in various clinical effects of these procedures.
 ...
PMID:Clinical application of drug pump for spasticity, pain, and restorative neurosurgery: other clinical applications of intrathecal baclofen. 1451 20

Leukoencephalopathy with vanishing white matter can be diagnosed on the basis of distinct clinical and magnetic resonance imaging (MRI) findings. It is a recessively inherited disorder, most often presenting in young children. The clinical symptoms include a slowly progressive cerebellar ataxia, spasticity, variable optic atrophy, and relatively preserved mental capacities. In addition, there are episodes of rapid and major deterioration following infections with fever and minor head trauma. These episodes can end in unexplained coma. MRI findings suggest that over time there is a progressive vanishing of the abnormal white matter, which is replaced by cerebrospinal fluid. We performed a genome-wide search and localized a gene for vanishing white matter on chromosome 3q27. We demonstrated that mutations in the gene EIF2B5 cause the disease. This gene encodes one of the five subunits of the translation factor eIF2B. Patients without mutations in the EIF2B5 gene were found to be mutated in one of the other genes that encode eIF2B subunits: EIF2B1 to EIF2B4.
 ...
PMID:Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes. 1457 43

A 25-year-old man, a field operator in a petroleum refinery was found unconscious. He was exposed to hydrogen sulfide and presented with Glasgow Coma Score of 5, severe hypoxemia on arterial blood gas analysis, normal chest radiography, and normal blood pressure. On hospital day 7, his mental state became clear, and neurologic examination showed quadriparesis, profound spasticity, increased tendon reflexes, abnormal Babinski response, and bradykinesia. He was also found to have decreased memory, attention deficits and blunted affect, which suggested general cognitive dysfunction, but which improved soon. MRI scan showed abnormal signals in both basal ganglia and motor cortex, compatible with clinical findings of motor dysfunction.
 ...
PMID:Neurologic sequela of hydrogen sulfide poisoning. 1496 23


<< Previous 1 2 3 4 5 6 7 Next >>