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

Pathologic study was carried out in 125 placentas, of which 25 were from cases of small for gestational age infants (SGA) and 100 from normal pregnancies. Ultrastructural study was done in 5 cases of each group. In the SGA group placenta circumvallata and velamentous insertion of cord were more frequently seen and the percentages of syncytial knots, cytotrophoblastic cells, and fibrinoid necrosis, stromal fibrosis and obliterative endarteritis of chorionic villi were also higher. Deficiency of vasculo-syncytial membranes and unduly thick trophoblastic basement membranes were common features of the SGA placentas. The most significant ultrastructural finding was the spasticity of capillaries of the villous stroma. It is believed that insufficient utero-placental blood flow may lead to the occurrence of SGA infants.
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PMID:[Pathology of placenta from small for gestational age infants]. 228 57

Twenty of 89 consecutive patients with the acquired immunodeficiency syndrome (AIDS) in whom autopsies were performed over a 3 1/2-year period had a vacuolar myelopathy that was most severe in the lateral and posterior columns of the thoracic cord. Light and electron microscopy showed that vacuoles were surrounded by a thin myelin sheath and appeared to arise from swelling within myelin sheaths. Signs and symptoms referable to the spinal-cord lesions, including paraparesis, often accompanied by spasticity or ataxia (or both), were present in all five patients with marked pathological changes, in five of seven patients with moderate changes, and in two of eight patients with mild changes. Fourteen patients were demented. The clinical presentation was sufficiently distinctive to provide a guide for antemortem diagnosis. Possible causes of the vacuolar changes include uncharacterized viral infection or a metabolic derangement related to selective nutritional deficiency.
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PMID:Vacuolar myelopathy pathologically resembling subacute combined degeneration in patients with the acquired immunodeficiency syndrome. 397 73

Reported here are two siblings with sudanophilic leukodystrophy occurring in early infancy. Soon after birth, high fever, distension of the abdomen and spasticity of the extremities were noted. Neurologic disorders, frequent convulsive seizures, and malnutrition caused both siblings to die at the age of 3 and 6 months, respectively. Neuropathologic examination of the brain revealed diffuse demyelination in the cerebral and cerebellar white matter as well as a disturbance of the myelination, especially in the descending pathway. Numerous sudanophilic lipids and glial fibers proliferated in the demyelinated areas. Neurochemically, there was a marked decrease in all lipid components, cholesterol, phospholipids, and glycolipids and an increase in cholesterol ester. Fatty-acid composition of cerebroside and sulfatide, especially that of long-chain acids, was within normal range, unlike the fatty-acid composition found in connatal Pelizaeus-Merzbacher disease. The brain damage in postnatal infant caused by frequent convulsive seizures and the severe demyelination in the cerebral and cerebellar white matter in both patients are discussed. The cases of sudanophilic leukodystrophy and Pelizaeus-Merzbacher disease occurring in children under 5 years of age are reviewed.
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PMID:Postnatal sudanophilic leukodystrophy in two siblings. 402 64

Pressure, hygiene, spasticity and chronic infection are the important local factors in pressure ulceration. Hypoproteinemia, nutritional deficiency and anemia are the systemic factors. Careful attention to local wound care and dietary supplements is required. Muscle and myocutaneous flaps may provide better coverage than the traditional random pattern flaps. Flaps with sensibility have theoretic advantages but need further investigation.
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PMID:Pressure sores. 661 94

Deficiency of liver arginase (AI) is characterized clinically by hyperargininemia, progressive mental impairment, growth retardation, spasticity, and periodic episodes of hyperammonemia. The rarest of the inborn errors of urea cycle enzymes, it has been considered the least life-threatening, by virtue of the typical absence of catastrophic neonatal hyperammonemia and its compatibility with a longer life span. This has been attributed to the persistence of some ureagenesis in these patients through the activity of a second isozyme of arginase (AII) located predominantly in the kidney. We have treated a number of arginase-deficient patients into young adulthood. While they are severely retarded and wheelchair-bound, their general medical care has been quite tractable. Recently, however, two of the oldest (M.U., age 20, and M.O., age 22) underwent rapid deterioration, ending in hyperammonemic coma and death, precipitated by relatively minor viral respiratory illnesses inducing a catabolic state with increased endogenous nitrogen load. In both cases, postmortem examination revealed severe global cerebral edema and aspiration pneumonia. Enzyme assays confirmed the absence of AI activity in the livers of both patients. In contrast, AII activity (identified by its different cation cofactor requirements and lack of precipitation with anti-AI antibody) was markedly elevated in kidney tissues, 20-fold in M.O. and 34-fold in M.U. Terminal plasma arginine (1500 mumols/l) and ammonia (1693 mmol/l) levels of M.U. were substantially higher than those of M.O. (348 mumols/l and 259 mumols/l, respectively). By Northern blot analysis, AI mRNA was detected in M.O.'s liver but not in M.U.'s; similarly, anti-AI crossreacting material was observed by Western blot in M.O. only. These findings indicate that, despite their more long-lived course, patients with arginase deficiency remain vulnerable to the same catastrophic events of hyperammonemia that patients with other urea cycle disorders typically suffer in infancy. Further, unlike those other disorders, an attempt is made to compensate for the primary enzyme deficiency by induction of another isozyme in a different tissue. Such substrate-stimulated induction of an enzyme may be unique in a medical genetics setting and raises novel options for eventual gene therapy of this disorder.
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PMID:Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme. 845 80

Spastic quadriplegic cerebral palsy (SQCP) is a severe disability that is associated with abnormal physical activity, body composition, and food intake and with frequent malnutrition. This study examined the pattern of dietary intake, anthropometry, and energy expenditure in a group of subjects with SQCP aged 2-18 y and a normal control group. The energy expenditure pattern was determined from resting energy expenditure (REE, n = 61 SQCP; n = 37 control group) by using indirect calorimetry and from total energy expenditure (TEE, n = 32 SQCP; n = 32 control group) by using the doubly labeled water method. Physical activity, including the chronic spasticity of SQCP, was estimated from the ratio of TEE to REE. Abnormal growth and body composition were common and dietary intake was markedly overreported in the children with SQCP. Children with SQCP were divided according to body fat stores determined by triceps-skinfold-thickness measurements. The children with low fat stores had a lower REE adjusted for fat-free mass compared with the SQCP and control groups with adequate fat stores. TEE was significantly lower for the SQCP group than for the control group. The ratio of TEE to REE, indicating energy for nonbasal needs, was significantly lower in the SQCP children than in the control group, with the adequately nourished SQCP children having lower ratios than the more poorly nourished SQCP group. The nonbasal energy expenditure, such as for physical activity and spasticity, of children with SQCP was low. The nutrition-related growth failure and abnormal pattern of REE are likely related to inadequate energy intake.
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PMID:Energy expenditure of children and adolescents with severe disabilities: a cerebral palsy model. 883 10

Feeding difficulty and malnutrition are common in disabled children. Intake may be reduced because of anorexia, chewing and swallowing difficulties, or vomiting. Feeding is often time consuming, unpleasant, and may result in aspiration. Malnutrition may result in impaired growth and neurodevelopment, and impaired cardiorespiratory, gastrointestinal, and immune functions. Multidisciplinary assessment is recommended and should include a feeding history, oral-motor examination, and nutritional assessment. The energy requirements of most disabled children are less than those for a normal child of the same age but may be increased by spasticity, athetosis, convulsions, and recurrent infections. Micronutrient deficiencies may occur even in children receiving nutritionally complete feeds if the volume is reduced because of low energy requirements. Oral intake may be improved by a change of posture, special seating, feeding equipment, oral desensitization, mashing or pureeing of lumpy food, thickening of liquids, use of calorie supplements, and treatment of reflux/esophagitis. Non-oral feeding should be considered when oral feeding is unsafe, not enjoyable, inadequate, or very time consuming. Long-term support requires a gastrostomy. This is less obtrusive than a nasogastric tube, less likely to become displaced, less traumatic, and is associated with improved quality of life, but is also associated with significant morbidity. If there is symptomatic reflux a fundoplication may be required, but this is associated with significant mortality and substantial morbidity.
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PMID:Feeding the disabled child. 978 66

This self-directed learning module highlights new advances in the understanding of co-morbid conditions and medical complications of stroke. It is part of the chapter on stroke rehabilitation in the Self-Directed Physiatric Education Program for practitioners and trainees in physical medicine and rehabilitation. This article covers co-morbid conditions of stroke patients, including cardiovascular disease, diabetes, and sleep apnea. It reviews recent information on complications of stroke, including deep venous thrombosis, dysphagia and aspiration, hospital-acquired infections, depression, falls, spasticity, shoulder pain, and seizures. Treatment advances in diabetes, depression, and spasticity are highlighted. Recent information is presented regarding exercise guidelines for the stroke patient with cardiovascular disease, the relationship between stroke and sleep apnea, prophylaxis of deep venous thrombosis, the changing spectrum of hospital-acquired infections, malnutrition in stroke patients, the problem of falls during rehabilitation, the evaluation and management of poststroke shoulder pain, and the risk of seizures after stroke.
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PMID:Stroke rehabilitation. 2. Co-morbidities and complications. 1032 98

To study the phenotypic spectrum and management of holoprosencephaly (HPE), we reviewed the findings of eight children with HPE from 3 to 10 years of age, who underwent intervention programs and rehabilitation at our center. One patient had alobar HPE, three semilobar HPE, and four lobar HPE. All patients had postnatal growth retardation, and seven showed a decreased BMI (< 25% tile). All patients had severe developmental delay and mental retardation (DQ < 40), showing no obvious correlation between their severity and the type of HPE. Neurologically seven patients had spasticity (3 spastic quadriplegia, 2 spastic diplegia, 2 mixed-type), except one patient with a 7q deletion [46,XY,del(7) (q35)] who had generalized hypotonia. Seven had variable types of seizures. All patients had feeding difficulties and were assessed by speech-language therapists. Four patients required tube feeding, four had gastroesophageal reflux disease. Recurrent respiratory tract infection was common. Three patients had abnormal serum sodium concentration (1 diabetes insipidus, 1 idiopathic hypernatremia, 1 hyponatremia). No family history of HPE was elicited. In conclusion, patients with HPE should be followed up closely for complications such as feeding difficulty, malnutrition, seizures, spasticity, infection, and osmoreceptor-hypothalamus-hypophyseal axis abnormalities.
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PMID:[Clinical spectrum and management of holoprosencephaly]. 1091 68

The semiology of the hand after brain damage is really rich. Its clinical evaluation remains quite difficult and must be integrated in the neuro-orthopedic and cognitive context. Deficiency, neuropsychological, analytic and functional status, must be assessed before any surgical decision aiming the improvement of prehension. Neuropsychological evaluation precise the hemispheric specialization: right hemisphere lesions conduct to unilateral spatial neglect while left hemispherical lesions determine language troubles and gesture impairment (apraxia). The analytical evaluation describes motor and sensitive function and assesses spasticity and pain. Concerning the functional assessment, the Enjalbert's score seems to be the most adapted to the upper limb. The assessment of hand deficiency and its origin is necessary to orientate the surgical decision and includes the Zancolli classification for the fingers and wrist and the House classification for the thumb. These classification used for cerebral palsy seems to be insufficient for all the different situations occurring after brain damage. A new classification is proposed based on 3 parameters: fingers extension, thumb abduction and supination. Surgical decision should be examined only after an adapted rehabilitation program.
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PMID:Assessment of hand after brain damage with the aim of functional surgery. 1094 93


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