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Biomedical subjects

A Hays

Publications and source records attributed to A Hays.

32 records · Page 2Linked to original sources
PubMed1979

Muscle carnitine deficiency. Genetic heterogeneity.

Two types of lipid storage myopathy have been associated with decreased content of carnitine in muscle. In "muscle carnitine deficiency", carnitine concentration is normal in serum, but reduced in muscle. In "systemic carnitine deficiency", apparently due to imparied synthesis of carnitine in the liver, carnitine content is low in both serum and muscle. We studied a woman with a corticosteroid-responsive, probably autosomal recessive, lipid storage myopathy. Carnitine therapy was ineffective and carnitine failed to correct the impaired fatty acid oxidation in muscle homogenates, in contrast to a previous case. Carnitine transport into skeletal muscle was normal. These observations suggest that ll cases of "muscle carnitine deficiency are not the same.

Adult↗
PubMedDate not supplied

Cerebral CT scan abnormalities in cholestatic and hepatocellular disease and their relationship to neuropsychologic test performance.

Forty-nine nonalcoholic cirrhotic patients, on whom cranial CT scans were available, were administered a battery of neuropsychological tests. Although none of the subjects exhibited clinical signs or symptoms of hepatic encephalopathy, quantification of the CT scan image implicated cerebral edema and cortical atrophy. In addition numerous significant correlations were observed between the CT variables and neuropsychological test performance. The findings are conjectured to reflect previously unrecognized cerebral morphologic changes associated with chronic subclinical portal-systemic encephalopathy.

Adolescent↗
PubMedDate not supplied

The possible occurrence of "alcoholic hepatitis" in a patient with bulimia in the absence of diagnosable alcoholism.

A case of a 20-yr-old female with possible "alcoholic hepatitis" and a mixed micro/macronodular cirrhosis occurring in association with overt bulimia and a history of anorexia nervosa, but without any objective evidence of either alcoholism or alcohol abuse, is reported. The possible factors that may have contributed, either alone or in combination, to produce this unusual occurrence are discussed.

Adult↗
PubMedDate not supplied

Lipid storage myopathy, ichthyosis, and steatorrhea.

A 41-year-old man had ichtyrosis, ectropion, steatorrhea, and slowly progressive proximal limb weakness. Biopsies showed abnormal lipid accumulation in muscle, liver skin, leukocytes, and gastric mucosa. Lipid storage was particularly marked in cultures of skin and muscle, and it increased in subsequent cell generations. By electron microscopy, the lipid globules showed no limiting membranes. The stored lipid was identified by thin-layer chromatography as triglyceride; there was no excess of cholesterol or cholesteryl esters. Muscle carnitine concentration and activities of carnitine palmityltransferase and acid lipase were normal; 14CO2 production from labeled palmitate in leukocytes was not impaired. The excessive accumulation of triglyceride in different tissues and in the progeny of cells in tissue culture suggests a genetic error of lipid metabolism.

Adult↗
PubMedDate not supplied

Disorders of lipid metabolism in muscle.

At rest and during sustained exercise, lipids are the main source of energy for muscle. Free fatty acids become available to muscle from plasma free fatty acids and triglycerides, and from intracellular triglycride lipid droplets. Transport of long-chain fatty acyl groups into the mitochondria requires esterification and de-esterification with carnitine by the "twin" enzymes carnitine palmityltransferase (CPT) I and II, bound to the outer and inner faces of the inner mitochondrial membrane. Carnitine deficiency occurs in two clinical syndromes. (1) In the myopathic form, there is weakness; muscle biopsy shows excessive accumulation of lipid droplets; and the carnitine concentration is markedly decreased in muscle but normal in plasma. (2) In the systemic form, there are weakness and recurrent episodes of hepatic encephalopathy; muscle biopsy shows lipid storage; and the carnitine concentration is decreased in muscle, liver, and plasma. The etiology of carnitine deficiency is not known in either the myopathic or the systemic form, but administration of carnitine or corticosteroids has been beneficial in some patients. "Secondary" carnitine deficiency may occur in patients with malnutrition, liver disease, chronic hemodialysis, and, possibly, mitochondrial disorders. CPT deficiency causes recurrent myoglobinuria, usually precipitated by prolonged exercise or fasting. Muscle biopsy may be normal or show varying degrees of lipid storage. Genetic transmission is probably autosomal recessive, but the great male predominance (20/21) remains unexplained. In many cases, lipid storage myopathy is not accompanied by carnitine or CPT deficiency, and the biochemical error remains to be identified.

Acyl Coenzyme A↗
PubMedDate not supplied

Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein.

Two patients with phosphofructokinase (PFK) deficiency had exercise intolerance and increased serum activity of creatine kinase; one presented with hemolytic anemia, hyperuricemia, and gouty arthritis. The glycogen concentration in the muscle of these patients was about twice normal. PFK activity was virtually absent in muscle, but antibodies against the M subunits of the normal human PFK showed cross-reacting material in muscle from both patients. The PFK level in red blood cells, studied in one case, was lower than normal in the patient and both parents. Morphologically, there was extensive deposition of normal glycogen underneath the sarcolemma and in the intermyofibrillar space. In addition, 2% to 3% of the myofibers contained hyaline, PAS-positive, diastase-resistant inclusions that had a filamentous fine structure; histochemical reactions suggested an insoluble form of glycogen. Similar inclusions have not been described previously in PFK deficiency. Accumulation of an abnormal polysaccharide in muscle may be due to a second undiscovered enzymatic defect or may be a metabolic consequence of PFK deficiency.

Adult↗
PubMedDate not supplied

Unsung heroes.

This article describes learning modules developed by faculty to assist community health nursing students to care for patients with Alzheimer's disease and their caregivers. These modules were problem based using the protocol format PACES (Problem Identification, Assessment, Creative Problem Solving, Emphasis and Simplicity) to assist students and caregivers to individualize care planning. Caring theory provided the unifying thread for the project.

Aged↗
PubMedDate not supplied

Intracranial dissecting aneurysms in childhood.

Children presenting after trauma with headache, seizures, hemiplegia and coma may have an intracranial dissecting aneurysm. Specific angiographic findings provide confirmation of this diagnosis. The dissection occurs subintimally and differs clinically and pathologically from dissecting aneurysms of extracranial arteries. The course in children beyond infancy is catastrophic, justifying consideration of potentially life saving surgical intervention.

Aortic Dissection↗
PubMedDate not supplied

Primary melanocytomas of the spinal cord: a report of seven cases.

Seven cases of primary intramedullary melanocytomas of the spinal cord are reported with clinical features, light microscopy, immunohistochemistry, and ploidy analysis. The patients ranged in age from 24 to 74 years. The tumors were composed predominately of spindle cells with focal aggregates of epithelioid cells. The nuclei were round to oval with variably prominent nucleoli. The tumors contained variable amounts of melanin pigment. Immunohistochemical staining with HMB 45 was positive in 5 cases and negative in 2. None of the tumors was immunoreactive for epithelial membrane antigen (EMA). The clinical outcome ranged from death at 9 days following surgery to 4-year survival without recurrence. The tumors were compared with 5 metastatic melanomas and were found to have a markedly different histology, S phase fractions, and proliferation indices. The categorization of the primary pigmented lesions of the CNS is further discussed in the context of dermatopathologic nomenclature. These 7 tumors appear to be a type of primary central nervous system neoplasm which lacks markedly anaplastic features and exhibits locally aggressive behavior.

Adult↗