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Biomedical subjects

A Papadimitriou

Publications and source records attributed to A Papadimitriou.

At least 73 records · Page 4Linked to original sources
PubMed1995

Plasma lysosomal enzyme levels in patients with motor neuron disease.

beta-Hexosaminidase and acid-alpha-mannosidase were estimated in 17 adult patients with motor neuron disease. Normal plasma levels of beta-hexosaminidase ((A+B) and A) were found in all patients studied. Plasma acid alpha-mannosidase levels were normal in all but two patients with the spinal muscular atrophy type of the disorder. In addition, altered biochemical properties of acid alpha-mannosidase (i.e. Km, thermal stability) were found in the low-activity cases.

Adult↗
PubMed1994

Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy.

Multiple deletions of mitochondrial DNA (mtDNA) were first identified in patients with mitochondrial encephalomyopathy with a clear mendelian inheritance. We found this genetic alteration in four atypical and sporadic cases of mitochondrial encephalomyopathy, characterized by RRF and partial COX deficiency. One patient was affected by essential hyperCPKemia, 1 by subacute onset flaccid tetraplegia and 2 by parkinsonism. Southern blot and PCR revealed mtDNA multiple deletions in muscle tissue of these patients. These findings indicate that these alterations are not confined to the families with mendelian transmission, but can be present in sporadic cases with heterogeneous phenotypic features.

Aged↗
PubMed1994

Tc-99m-labeled nonspecific polyclonal human immunoglobulin G is taken up by malignant tumors.

A new agent originally introduced for localizing inflammatory lesions is Tc-99m human immunoglobulin G (HIG). Recently, focal uptake of this agent was seen in malignant lesions in a limited number of patients during inflammation imaging studies. In this prospective clinical study, the authors aimed to evaluate the uptake of Tc-99m HIG in malignant lesions. Nineteen patients with histopathologically proven malignant tumors were studied (seven had distant metastases, the primary tumor was surgically removed in two). There was no evidence of inflammation or infection in any patient. The authors imaged patients at 1, 4, and 24 hours after injection. The dose was 15-20 mCi (555-740 MBq). Focal uptake was detected in the primary tumor in six patients and in the metastases in five patients, raising some question about the specificity of Tc-99m HIG imaging for the detection of inflammation and infection.

Female↗
PubMed1993

Ophthalmologic examination in the diagnosis of Proteus syndrome.

PURPOSE: To describe the clinical features of Proteus syndrome, a rare recently recognized hamartoneoplastic malformation, with emphasis on the ocular findings. METHODS: Complete physical and ocular examination of two new patients with Proteus syndrome. RESULTS: The two reported cases illustrate the wide clinical polymorphism of Proteus syndrome and the overlap of its clinical manifestations with those of other overgrowth syndromes. Both patients had periorbital exostoses and epibulbar tumors. The ocular findings are compared with those in the literature. CONCLUSION: Considering the paucity of information in the ophthalmic literature, this article explores the role of the ophthalmologist in diagnosing this rare entity.

Abnormalities, Multiple↗
PubMed1993

Induced in vivo targeted transarterial and transvenous immunostimulation in patients with unresectable pancreatic carcinoma.

On the basis of the preliminary results of this study, in vivo dual immunostimulation in patients with advanced pancreatic cancer appears to be a promising therapeutic alternative. A surgical technique is presented in which the spleen of the patient is used as the target organ for in vivo lymphokine activated killer cell generation. Additionally, applying locoregional transvenous administration of gamma-INF and IL2 in the area of the tumor, tumor infiltrating lymphocytes (TIL) area activated, thus completing the system of dual in vivo immunostimulation.

Aged↗
PubMed1991

Late onset lipid storage myopathy due to multiple acyl CoA dehydrogenase deficiency triggered by valproate.

Late onset Multiple Acyl CoA dehydrogenase (MAD) deficiency myopathy is a rare disorder. Only five cases have been reported. We report one case with MAD deficiency in which the clinical features appeared during valproic acid therapy. A 47-yr-old man taking valproic acid for 4 months presented nocturnal calf cramps, exercise intolerance, difficulty in climbing stairs and shortness of breath. Muscle biopsy revealed ragged red fibres and neutral lipid storage. Electron microscopy showed enlarged abnormal mitochondria with abnormal internal structure. The total and free muscle carnitine was decreased. The activities of all short, medium and long chain acyl CoA dehydrogenases were 40% of the normal. In this case a partial defect of MAD is noted, possibly triggered by valproic acid, causing the clinical manifestations of the pre-existing myopathy. After discontinuation of the drug a clinical improvement was observed while therapy with riboflavin resulted in a total relief of the symptoms.

Acyl-CoA Dehydrogenase↗
PubMed1991

Growth hormone treatment of growth failure secondary to total body irradiation and bone marrow transplantation.

Growth hormone was given to 13 children (nine boys, four girls) with acute leukaemia who had undergone treatment with cyclophosphamide and total body irradiation before bone marrow transplantation. Mean age at total body irradiation and bone marrow transplantation was 9.0 years (range 3.7-15.8). Endocrinological investigation was carried out at a mean of 2.0 years (range 0.4-4.0) after bone marrow transplantation. Peak serum growth hormone responses to hypoglycaemia were less than 10.0 micrograms/l (less than 20.0 mU/l) in 10, 10.5 micrograms/l (21.0 mU/l) in one, greater than 16.0 micrograms/l (greater than 32.0 mU/l) in two patients. Mean age of the patients at the start of growth hormone treatment was 12.2 years (range 5.8-18.2). The mean time between total body irradiation and bone marrow transplantation and the start of growth hormone treatment was 3.2 years (range, 1.1-5.0). Height velocity SD score (SD) increased from a mean pretreatment value of -1.27 (0.65) to + 0.22 (0.81) in the first year, +0.16 (1.11) in the second year, and +0.42 (0.71) in the third year of treatment. Height SD score (SD) changed only slightly from -1.52 (0.42) to -1.50 (0.47) in the first year, to -1.50 (0.46) in the second year, and -1.74 (0.92) in the third year. Measurement of segmental proportions showed no significant increase in subischial leg length from -0.87 (0.67) to -0.63 (0.65) in the first year, to -0.58 (0.70) in the second year, and -0.80 (1.14) in the third year of treatment. Our data indicate that children who have undergone total body irradiation and bone marrow transplantation respond to treatment with growth hormone in either of two dose regimens, with an increase in height velocity that is adequate to restore a normal growth rate but not to 'catch up', and that total body irradiation impairs not only spinal but also leg growth, possibly by a direct effect of irradiation on the epiphyses and soft tissues.

Adolescent↗
PubMed1991

Treatment of constitutional growth delay in prepubertal boys with a prolonged course of low dose oxandrolone.

Forty six prepubertal boys who had constitutional growth delay were treated with oxandrolone. Mean age at the onset of treatment was 11.9 years (range 9.0-14.0) and bone age delay was 1.9 'years'. The dose of oxandrolone used was a mean of 0.05 mg/kg (range 0.03-0.18) for a mean of 0.9 years (range 0.2-3.6). Height velocity increased from a mean (SD) before treatment of 4.0 (1.0) to 7.5 (1.2) cm/year with oxandrolone. Growth rate was sustained at 7.6 (2.2) cm/year in the period after treatment. Those boys who attained a testicular volume of 4 ml or greater at the end of the treatment period had the most pronounced sustained growth acceleration. Height for bone age SD score did not alter significantly from a mean of -1.0 before treatment to -1.2 after treatment. Oxandrolone is a safe and effective treatment for prepubertal boys with constitutional growth delay.

Adolescent↗
PubMed1990

McArdle's disease: two clinical expressions in the same pedigree.

Two patients with McArdle's disease within the same pedigree and with two different clinical forms are presented. The first patient suffered from progressive muscle weakness and atrophy. Muscle morphology was that of myopathy. Residual activity of phosphorylase was 28% and sodium dodecyl sulphate electrophoresis showed decreased protein. The second case was typical of McArdle's disease, clinically and biochemically. It was concluded that the first patient was a heterozygote (residual activity 28% of normal) and the second was a homozygote, the genetic transmission being autosomal recessive.

Adult↗
PubMed1990

Diagnostic significance of the tumour markers CEA, CA 15-3 and CA 125 in malignant effusions in breast cancer.

Concentrations of the tumour-associated antigens CEA, CA 15-3 and CA 125 were determined in serous effusions (EF) from patients (pts) with breast cancer. As controls, serous effusions from patients with benign and other malignant diseases were used. The EF levels were also compared with those of serum. CA 15-3 was elevated (greater than 35 U/ml) in 65.7% of breast cancer EF, in 39.3% of EF in various other malignant diseases and in 0% of benign EF. CEA was elevated (greater than 9 ng/ml) in 37.5% of breast cancer EF, in 17.9% of EF of various other malignant diseases and in 27% of benign EF. CA 125 was elevated (greater than 35 U/ml) in 93.8% of breast cancer EF, in 78.6% of EF of various other malignant diseases and in 58.8% of benign EF. There was a statistically significant correlation between EF and serum values for the markers studied. Sensitivity and specificity for CA 15-3 were 65.7% and 76.6%, for CEA 37.5% and 77.7% and for CA 125 93.8% and 28.7%, respectively. CA 15-3 is a marker with definite diagnostic accuracy compared to CEA and CA 125 in breast cancer EF. CA 125 appears to derive from proliferating mesothelia rather than cancer cells alone and occurs in a broad spectrum of malignant as well as benign EF. The above markers should not be used alone for diagnosis of breast cancer in patients with serous effusions.

Antigens, Tumor-Associated, Carbohydrate↗
PubMed1984

Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain.

We have studied a 17-year-old girl with lactic acidosis (3-18 mEq/liter) and progressive muscle weakness since 9 years of age. Morphological findings in muscle were of a typical ragged red myopathy with multiple collections of bizarre mitochondria, some containing paracrystalline inclusions. The carnitine content of serum and muscle was normal, as were the activities of carnitine palmitoyltransferase, carnitine octanoyltransferase, and carnitine acetyltransferase in the patient's muscle. Measurement of the enzymes of oxidative phosphorylation in both crude muscle homogenates and mitochondrial fractions showed close to normal activities of cytochrome c oxidase, succinate dehydrogenase, and ATPase. In contrast, succinate cytochrome c reductase activity was greatly reduced in the patient, being 0.035 mumol/min/g tissue in whole muscle (controls 1.16 +/- 0.47 mumol/min/g tissue) and 8 nmol/min/mg protein in the mitochondria (control, 340 nmol/min/mg protein). Rotenonesensitive NADH-cytochrome c reductase was also undetectable in the patient's mitochondria. Spectral analysis of cytochromes showed decrease of reducible cytochrome b to 16% of the control. These results indicate a defect of ubiquinol-cytochrome c reductase or the cytochrome bc1 segment (complex III) of the electron transport chain. Antibody-binding studies of the individual components of complex III showed additional deficiencies of core proteins I and II and peptide VI, indicating a more widespread defect of complex III than was evident from spectral analysis and enzyme activity measurements alone. Urine organic acid analysis after fasting and following a medium chain triglyceride load showed unusually high levels of lactate and 3-hydroxybutyrate, lower than expected levels of acetoacetate and dicarboxylic acids, and the presence of several other metabolites suggesting a disturbed citric acid cycle and redox state.(ABSTRACT TRUNCATED AT 250 WORDS)

Acidosis↗
PubMed1984

Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria.

A 3-week-old girl with failure to thrive and cardiomegaly died of cardiac arrest at age 4 weeks. Morphologic studies of the heart showed enlarged muscle fibers with large accumulations of mitochondria, characteristic of histiocytoid cardiomyopathy. Biochemical studies showed markedly decreased succinate-cytochrome c reductase and rotenone-sensitive NADH-cytochrome c reductase activities, while other mitochondrial enzymes were normal. In isolated mitochondria, cytochrome spectra showed a severe defect of reducible cytochrome b and a less marked defect of cytochrome cc1, while the content of cytochrome aa3 (cytochrome c oxidase) was normal. Histiocytoid cardiomyopathy appears to be due to a defect of complex III (reduced coenzyme Q-cytochrome c reductase) in the respiratory chain of heart mitochondria.

Cardiomyopathies↗
PubMed1984

Mitochondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity.

We report two siblings with a mitochondrial encephalomyopathy. The syndrome was characterized by ataxia, intellectual impairment, myoclonic jerks, rare seizures, and small stature. Muscle biopsy specimens showed abnormal accumulations of mitochondria and lipid droplets. Biochemical studies on muscle demonstrated decreased succinate-cytochrome c reductase activity in the mitochondrial respiratory chain.

Brain Diseases↗
PubMed1983

Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate.

A young woman with Kearns-Sayre syndrome and progressive central nervous system deterioration over 15 years had decreased plasma and cerebrospinal fluid folate levels while receiving phenytoin for a seizure disorder. A muscle biopsy showed a "ragged red fiber" myopathy with reduced muscle carnitine and mitochondrial enzymes. Computed tomographic brain scans showed cerebral white matter hypodensities and bilateral calcification of the basal ganglia. The mechanism for the folate deficiency and altered ratio of plasma to cerebrospinal fluid folate is unknown, but the deficiency may be responsive to replacement therapy.

Adolescent↗
PubMed1983

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.

A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. At 33 months of age, he had mild proximal weakness. Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months of age showed excessive mitochondria, lipid, and glycogen; a third biopsy at age 36 months showed only atrophy of scattered fibers. Cytochrome c oxidase stain was positive in fewer than 5% of fibers in the first biopsy, in approximately 60% of fibers in the second biopsy, and in all fibers in the third biopsy. Biochemical analysis showed an isolated defect of cytochrome c oxidase activity, which was only 8% of the lowest control level in the first biopsy; the activity increased to 47% in the second biopsy and was higher than normal in the third. In contrast to that in the fatal infantile form of cytochrome c oxidase deficiency, the enzyme defect in this condition is reversible. The biochemical basis for this difference remains to be explained.

Acidosis↗
PubMed1983

[Myopathy due to carnitine palmitoyltransferase deficiency. Report of 2 cases with enzymatic analyses on muscle tissue].

We describe two brothers, 25 and 19 years-old, with muscle pain and decreased strength after prolonged exercise; these symptoms are worsened by cold whether of fasting. One of the patients developed recurrent myoglobinuria and had one episode of renal failure. Laboratory investigations were normal between the crises, but during myoglobinuria, serum creatine kinase activity increased 100 times. Electromyography was suggestive of denervation. Muscle biopsy showed increased lipid droplets by the "oil red O" stain and increased activity of succinic dehydrogenase histochemical reaction. Lactate production during ischemia was normal. Biochemical analysis showed decreased carnitine-palmityl-transferase activity in muscle (7.23 and 10.58 nmoles/min/gr; normal range 66.7 +/- 17.3), with normal values for carnitine-octanoyl-transferase and carnitine-acetyl-transferase. The metabolic pathway of fatty acid utilization as an energy source for muscle during exercise in normal and in pathological conditions is discussed.

Acyltransferases↗
PubMed1980

A stepped forty-eighty hour manic-depressive cycle.

This paper describes a patient with an almost 48-hour manic-depressive cycle but with a daily shift of the switching time, the latter having itself a cycle of five days. The mood change always occurred gradually and during the day, never at night. Between manic and depressive phases there was a difference in the frequency of the EEG alpha rhythm. The patient showed a good response to lithium treatment.

Aged↗