Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 42-year-old female was admitted to our hospital on October 1, 1990 because of one week history of back pain, weakness of her right lower extremity and sensory disturbance of her left lower extremity. Physical examination revealed swollen hands, Raynaud's phenomenon, sclerodactyly and heliotrope rash. The body temperature was 37.0 degrees C. Neurological findings included weakness in the right lower extremity, left hypalgesia and thermohypesthesia below Th4, hyperreflexia on the right lower extremity and right extensive plantar response. Laboratory data showed leucopenia (3,700/mm3) and hypergammaglobulinemia. Serological examination revealed antinuclear antibodies with a titer of 1:5120 (speckled pattern) and anti-RNP antibody with a titer of 1:32. Neither anti-DNA antibody nor anti-Sm antibody were detected. Serum C3 and C4 were normal. The cerebrospinal fluid (CSF) contained mononuclear cells of 5/mm3, protein 29 mg/dl and glucose 56 mg/dl. Queckenstedt test was negative. Treatment with prednisolone 60 mg daily was started. On the 8th day of therapy, she complained of a burning sensation in the back, then paraplegia and urinary retention developed. MRI examination showed a high intensity area of the spinal cord at the right Th4 on T2-weighted images. Next day the treatment with 1000-mg intravenous daily pulse of methylprednisolone for 3 days was started, followed by prednisolone 40 mg daily. After this pulse therapy, the CSF contained mononuclear cells of 52/mm3, protein 34 mg/dl, glucose 67 mg/dl and IgG 7.6 mg/dl. Her neurological manifestation gradually improved and at six weeks after the pulse therapy neurological examination revealed no abnormality except for painful tonic spasm. Prednisolone was slowly tapered to 15 mg daily.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of mixed connective tissue disease (MCTD) associated with transverse myelitis responding to pulse therapy]. 181 87

An eleven year old boy was referred because of sudden loss of consciousness, muscular weakness, poor general health, severe hypoglycemia with seizures and hepatomegaly. Response to oral glucose and galactose increased blood lactic acid and glucose at different times. Fasting values of blood lactic was normal, but glucose was found at 33 mg/dl. Similar test made up two hours after feeding revealed hyperlactatemia (35-50 mg/dL) and hyperglycemia (129 mg/dL). Glucagon did not result in a rise of glucose at fasting or feeding. Hepatic glycogen content was found 15 gm/100 mg of tissue. The enzyme activities revealed a deficiency of the liver debranching enzyme while leukocytes had normal enzyme activity. Hepatic biopsy showed liver fibrosis. The present case had the clinical characteristics of severe form of glycogen storage disease. A low carbohydrate and high protein diet was indicated in order to increase the gluconeogenic precursors. Although debranching enzyme deficiency is almost always benign a high carbohydrate diet induced a more severe expression of the disease.
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PMID:Diet therapy in severe clinical expression of debrancher deficiency. 184 14

Forty-three patients who had sepsis and multiple organ failure (critical illness) were studied prospectively to determine the incidence and severity of peripheral nerve function and to correlate such function with a number of variables. Electrophysiologic studies indicated a primary axonal degeneration of motor and sensory fibers in 30 (70 percent). Fifteen (30 percent) had the clinical signs of difficulty in weaning from assisted ventilation, weakness of limb muscles, and reduced or absent deep tendon reflexes. Full recovery from the polyneuropathy occurred among the 23 (53 percent) who survived, except three who had a very severe polyneuropathy. A peripheral nerve function index, computed from electrophysiologic measurements, showed statistically significant (p less than 0.01) negative correlations with the time in the critical care unit, and the serum glucose value; the serum albumin level showed a positive correlation. Multiple regression analyses indicated all three factors accounted for 47 percent (r2 = 0.4678) of all potential variables. In a separate analysis, the nerve function index correlated with the amplitude of the diaphragm compound muscle action potential (p less than 0.01). The results were consistent with the polyneuropathy being due to the same mechanisms that are currently postulated to cause dysfunction in this syndrome of other organ systems (including the neuromuscular respiratory system).
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PMID:Peripheral nerve function in sepsis and multiple organ failure. 184 61

A 35-year-old man presented with acute onset of bilateral lower extremity weakness after ingesting a large amount of carbohydrates. Laboratory investigation revealed severe hypokalemia (1.9 mEq/l) and hyperthyroidism. The patient also exhibited primary aldosteronism due to a left adrenal adenoma. As a diagnostic tool, paralysis with hypokalemia (2.8 mEq/l) was induced with a glucose infusion. After treatment with methimazole, there were no further episodes of paralysis and subsequent induction of paralysis with glucose was impossible, though primary aldosteronism persisted. These findings indicate that hyperthyroidism played a major role in the development of periodic paralysis, while primary aldosteronism apparently increased the patient's vulnerability to paralytic attacks.
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PMID:Thyrotoxic periodic paralysis complicated with primary aldosteronism. 192 Sep 61

Diagnostic electrocardiostimulation (ECS) of the right atrium with evaluation of the functional state of the heart conduction system and coronary reserve was carried out in 177 patients. The level of blood catecholamines, activity of cholinesterase and content of destroyed acetylcholine, cortisol, free fatty acids, glucose, insulin, thyroxine, triiodothyronine, renin, testosterone, calcium was determined before and at the height of diagnostic ECS. In cases with a tendency to bradycardia one could note compensatory tension of the sympathetic-adrenal system and mechanisms of general adaptation. In organic weakness of the sinus node with stable bradysystole there were signs of exhaustion of the adrenal reserves of catecholamines and cortisol manifested in paradoxic reduction of them in the blood in response to frequent ECS and corresponding changes of energy provision.
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PMID:[The neurohumoral regulation and energy support of the myocardium in patients with heart rhythm disorders]. 197 44

A 59-year-old female patient was admitted because of muscle weakness in all four limbs for a period of 5 days. She had been found to have Graves' disease 4 years ago previous to this, and had received a subtotal thyroidectomy 1 year later. Hypothyroidism supervened and she had been receiving levothyroxine replacement in recent years. She also had non-insulin-dependent diabetes, which was controlled with diet only. During the 5 days prior to admission, she developed muscle weakness which finally worsened to complete paralysis of all four limbs. Physical examination showed tenderness and weakness of the extremity muscles. Abnormal laboratory data included serum K, 1.6 mEq/L; P, 1.2 mg/dl; uric acid, 1.6 mg/dl; fasting glucose, 267 mg/dl; T3, 36.65 ng/dl; T4, 4.0 micrograms/dl; TSH, 5.35 mu u/ml; free T4, 0.57 ng/dl; and metabolic acidosis with pH, 7.298; PCO2, 27.0 mmHg; and HCO3, 12.8 mEq/L. An EKG showed a prominent U wave, and urinalysis revealed renal glucosuria and massive aminoaciduria. An oral sodium bicarbonate loading test showed an increasing loss of bicarbonate through the urine, while the plasma bicarbonate level was elevated. Clinical manifestations improved after the administration of sodium bicarbonate, potassium chloride and neutral phosphate.
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PMID:Fanconi syndrome: report of a case. 198 86

The human primary carnitine deficiency syndromes are potentially fatal disorders affecting children and adults. The molecular etiologies of these syndromes have not been fully determined. Muscle carnitine deficiency syndrome is characterized by mild to severe muscle weakness, lipid accumulation in muscle, and reduced muscle carnitine concentration. In the present investigation, the hexose transport properties of muscle cells isolated from a patient with suspected muscle carnitine deficiency (MCD) were examined. We have previously shown that myoblasts from normal human subjects possessed at least two hexose transport systems, the low (LAHT) and the high (HAHT) affinity hexose transport systems. Their preferred substrates were 3-O-methyl-D-glucose and 2-deoxyglucose (dGlc), respectively; HAHT, but not LAHT, was sensitive to inhibition by carbonyl cyanide m-chlorophenylhydrazone (CCCP). Here we show that the kinetic properties of HAHT in the MCD myoblasts differ significantly from those of normal myoblasts and that the rates of dGlc transport by MCD myoblasts are restored to normal by growth in 40 microM L-carnitine. We also demonstrate that the kinetic properties of LAHT are quite similar in both normal and MCD myoblasts. It can be inferred from these findings that HAHT and LAHT may be coded or regulated by different genes. Based on the finding that the dGlc transport system in L-carnitine grown cells is no longer sensitive to inhibition by CCCP, it is thought that L-carnitine may play a regulatory role in HAHT, viz., by maintaining the HAHT transporter in a functional state, even in energy-uncoupled cells.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Hexose transport properties of myoblasts isolated from a patient with suspected muscle carnitine deficiency. 208 33

Acid maltase deficiency in adults is associated with progressive muscle weakness and may effect respiratory muscles resulting in respiratory failure. The biochemical and clinical manifestations of acid maltase deficiency arise from a marked deficiency of the lysosomal enzyme alpha-glucosidase (acid maltase), which normally degrades glycogen to free glucose. In the past few years, high-protein diets have provided an alternative energy source for these patients and resulted in improved muscle strength. Recently, we treated a ventilator-dependent acid maltase-deficient patient with a general diet supplemented with branched-chain amino acids. Branched-chain amino acids are the principal amino acids involved in muscle protein synthesis and utilization. While on this diet, the patient had improvement of respiratory function and muscle strength and was able to be weaned from the ventilator during the day. In addition to his nutritional status, levels of serum branched-chain amino acids, showed improvement within 2 months after the diet started. This diet shows potential advantages over a high-protein diet without supplemented branched-chain amino acids for the treatment of acid maltase deficiency. These include theoretical sparing of amino acids required for muscle protein synthesis by providing higher concentrations of postprandial branched-chain amino acids in the circulation. Also, the liquid formula would be better tolerated by a ventilator-dependent or debilitated patient rather than a high-protein general diet. Further experience with branched-chain amino acid formulas will be needed to substantiate their efficacy in the treatment of acid maltase deficiency.
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PMID:Treatment of acid maltase deficiency with a diet high in branched-chain amino acids. 211 30

Lung function was assessed in 35 nonsmoking adults with insulin dependent diabetes mellitus and 34 matched control subjects. The tests included spirometry, lung volumes, CO transfer factor and maximum respiratory pressures. Additionally, in subjects under 35 years of age (20 patients and 18 controls) measurements of CO transfer factor were obtained during exercise at three different workloads. Random blood glucose and glycosylated haemoglobin were measured and each patient's diabetic history was recorded. The total lung capacity (TLC) in the patients was lower than those recorded for the controls (P less than 0.05) but there were no significant differences in respiratory muscle strength between the groups. In the young group of patients (less than 35 years) the transfer factor for CO (TLCO) was similar but the volume corrected transfer coefficient (KCO) was higher at rest than in the controls (P less than 0.02). The KCO remained high in these patients during exercise. The older patients (greater than 35 years) showed a lower TLCO (P less than 0.01) with a similar KCO to the controls. The association of a reduction in TLC and higher KCO in the young patients suggests an extrapulmonary mechanism of lung volume restriction. This is not attributable to muscle weakness but might be due to limited expansion of the rib cage. In older patients any tendency for KCO to rise may be masked by disease-related changes in the pulmonary microvasculature.
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PMID:Lung function in patients with diabetes mellitus. 188 18

Hypoglycemia causes a variety of neurologic symptoms, and yet it is rarely responsible for such a sudden, focal neurologic deficit as hemiplegia. Herein we described a rare case of what was believed to be transient hypoglycemic hemiplegia. An 80-year-old woman was admitted to the hospital on June 10, 1988, following frequent episodes of abnormal behavior and transient weakness of the right extremities. These symptoms, similar to those of cerebrovascular diseases, characteristically occurred early in the morning and disappeared after breakfast. On admission no definite abnormalities were disclosed on neurologic examination. Neuroradiological evaluations by CT, cerebral angiography and single photon emission CT failed to demonstrate abnormalities. The patient remained stable until the following morning, when she suddenly became restless and confused and developed total aphasia and the right hemiplegia. The blood sugar was estimated to be 34 mg/dl and electroencephalogram (EEG) showed continuous slow wave activities involving the bilateral fronto-parietal region. Intravenous injection of glucose solution instantaneously resulted in disappearance of both neurologic symptoms and EEG abnormality. Serum insulin level was found extremely increased ranging from 7000 to 8000 microU, eventually leading to a diagnosis of insulin autoimmune syndrome. Hemiplegia due to hypoglycemic attack was reviewed in the literature, and the pathogenesis and EEG findings were also discussed.
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PMID:[Transient hypoglycemic hemiplegia due to insulin autoimmune syndrome--a case report]. 218 65


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