Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013911 (emaciation)
 1,059 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 10-month-old boy with the clinical features of the diencephalic syndrome of emaciation due to a suprasellar spongioblastoma is described. The patient showed high basal levels of growth hormone (GH greater than 80 muU/ml on several occasions). In addition, elevated concentration of plasma testosterone (125.5 ng/100ml) was combined with a relatively high LH-increase to LHRH (45.6 mU/ml). After completion of irradiation basal GH-levels had been normalized, and GH responses to insulin induced hypoglycemia (IIH) and propranolol-glucagon (PG) were adequate. Complete clinical remission of emaciation occurred soon after radiation therapy and went parallel with the normalization of GH-regulation.
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PMID:Endocrine dysfunction in the diencephalic syndrome of emaciation in infancy. 71

Two cases of idiopathic hypothalamic dysfunction (one boy and one girl) are reported. Symptoms of hypothalamic dysfunction were noted by the age of 2 years: initial polyphagia and obesity with subsequent anorexia and emaciation were observed in one patient. Thermoregulation and thirst disorders, recurrent accesses of hypernatremia, acrocyanosis and profuse sweating were present. Impaired growth and delayed puberty in one case, and in the other hypogonadism, absence of growth hormone and gonadotrophins release in response to provocative stimuli were observed as well as abnormal thyroid stimulating hormone response to thyrotropin releasing hormone with hyperprolactinemia. Magnetic resonance imaging showed structural lesion in the lateral part of the lentiform nucleus in one case. Treatment with naltrexone, an opiate antagonist, had little if any effect.
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PMID:[Hypothalamic dysfunction. 2 cases: the contribution of nuclear magnetic resonance, therapeutic trial of naltrexone]. 266 35

The Russel's syndrome is characterized by emaciation and hyperactivity in children and is caused by hypothalamic expansive process. This report presents the typical signs of the syndrome associated with growth hormone secretion disorders and precocious puberty pattern appearing at the age of four. The pathogenesis of the disorder is discussed and related to the hypothalamus-pituitary axis dysfunction caused by the tumor growth.
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PMID:[Russel's syndrome. Report of a case with development of precocious puberty]. 360 39

Recent studies suggest that some of the DSM III criteria for anorexia nervosa require revision. In particular exclusion for onset beyond 25, and a requirement for 25 per cent weight loss appear inappropriate, whereas amenorrhoea correlates better with anorectic psychology than weight. Although an increased incidence of affective disturbance among the relatives of anorectics and bulimics has been shown, the precise relationship with affective disorder remains unclear. Cortisol non-suppression and low MHPG excretion are related to weight loss. However, some areas of hypothalamic dysfunction cannot be explained by emaciation or diet. Pre-pubertal LH secretion patterns, absence of estrogen positive feedback on LH, and failure of LH response to clomiphene can persist despite normalisation of weight. Furthermore 1-dopa fails to induce the normal growth hormone response in weight restored anorectics, suggesting impairment at post-synaptic dopamine receptors. Body image studies have been varied, suggesting heterogeneity of body image distortion among anorectic subgroups. The role of family environment in the pathogenesis of anorexia nervosa has not been fully elucidated, although such a role in the relationship between bulimic symptomatology and personality disturbance have been suggested. Of the behavioral therapies, operant positive reinforcement that restores weight in a hospital setting has had the best results. Successful pharmacological approaches have included cyproheptadine (a serotonin antagonist), chlorpromazine and metoclopramide.
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PMID:The state of research in anorexia nervosa and bulimia. 636 10

Three children with diencephalic tumours are described. In these cases, the main clinical features are extreme emaciation and nystagmus. Ultrasonography and computed tomography demonstrated the tumour. In one case, high levels of growth hormone were observed. In the three cases, the tumour was a glioma.
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PMID:[Diencephalic cachexia (A. Russel's syndrome). Apropos of 3 cases. Importance of transfontanelle ultrasonography]. 666 47

Three cases of diencephalic syndrome, associated with brain tumors, are reported in this paper. Case 1. A 2-2/12-year old boy was initially admitted to our hospital because of failure to thrive which began at the age of three months. Physical examination revealed emaciation (weight, 7.8 kg), irritability and pallor without anemia. Horizontal nystagmus was seen. Laboratory studies were normal except for abnormally high plasma growth hormone (p-GH) which was incompletely suppressed by hyperglycemia (induced by glucose) and was not elevated by hypoglycemia (induced by insulin). A low grade astrocytoma of the optic nerve compression the hypothalamus was partially removed. After the operation followed by irradiation, p-GH returned to normal both in its basal level and in its reaction to insulin loading, then his gain of weight was accelerated. He was readmitted, however, at the age of 6 8/12 years with headache and vomiting. Since subtotal removal of the recurrent tumor and irradiation, preoperative symptoms have disappeared up to the present (7 9/12 years old). Case 2. A 3-9/12-year old girl was initially admitted because of failure to thrive since the age of 2 years. Examination on admission revealed emaciation (10.5 kg), irritability and right hemiparesis. Laboratory studies were normal except for high serum cholesterol (290 mg/dl). (p-HG was not measured) The patient had been well after the subtotal removal of the hypothalamic astrocytoma except occasional headache until the age of 6 years. She was readmitted at the age of 9 years with progressive emaciation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Diencephalic syndrome--report of three cases]. 671 44

Immunodeficient dwarfism in Weimaraner dogs was characterized by failure to grow, emaciation, growth hormone (GH) deficiency, decreased lymphocyte blastogenic responsiveness to mitogens, lack of thymus cortex, and recurrent infections usually resulting in death. Affected pups did not respond to conventional supportive therapy, but did respond to treatment with thymosin fraction 5. Response to therapy with bovine GH was monitored by clinical observation, histopathologic examination of thymic biopsy material, lymphocyte blastogenic responsiveness to nonspecific mitogens, and radioimmunoassay of thymosin alpha 1 concentration in the serum. Growth hormone therapy (0.1 mg/kg of body weight/dose, 14 doses) during a 1-month period in 2 immunodeficient dwarf pups resulted in clinical improvement and a marked increase in the thickness and cellularity of the cortex of the thymus. Immunodeficient dwarf pups were not deficient in serum thymosin alpha 1 before GH therapy. Growth hormone therapy was not associated with a consistent increase in serum thymosin alpha 1 concentration or lymphocyte blastogenic responsiveness to mitogens.
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PMID:Improvement in clinical condition and thymus morphologic features associated with growth hormone treatment of immunodeficient dwarf dogs. 674 75

Diencephalic syndrome of emaciation (Russell's syndrome) characteristically presents with the symptoms of marked emaciation in spite of normal linear growth and marked increased of serum growth hormone in infancy and early childhood. It is usually caused by a low-grade glioma, most often an astrocytoma, of the anterior third ventricle including the optic nerve and chiasm. Usually it is not associated with von Recklinghausen's neurofibromatosis. We describe two unusual cases of diencephalic syndrome; one case was caused by a low-grade astrocytoma involving the anterior third ventricle associated with neurofibromatosis, and the other by a malignant astrocytoma of the anterior third ventricle.
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PMID:Diencephalic syndrome of emaciation (Russell's syndrome). 680 75

The present study was performed to clarify the possibility of IGF-I as an early indicator of malnutrition in patients with end-stage renal disease. Thirty-two patients (19 males, 13 females; mean age 49.6 +/- 10.0 years) undergoing dialysis were enrolled in the study. Body weight, skinfold thickness, and midarm muscle circumferences (MAMCs) were measured for anthropometric nutritional indices. Blood samples were collected to measure the following endocrinological, biochemical and hematological indices: IGF-I, growth hormone, (GH), total protein, prealbumin, albumin, transferrin, hematocrit, and lymphocyte count. Nutritional indices were measured again 1 month later to calculate the percent difference among them. Moreover, 2 patients who showed a decrease in IGF-I and suffered from malnutritional complications, such as hypoproteinemia and emaciation, which could not be successfully treated by conventional therapies were selected in order to confirm the nutritional role of IGF-I mediated by recombinant human GH (r-hGH). The serum IGF-I concentration distribution ranged from 22 to 225 ng/ml. In 15 patients (10 males, 5 females), it fell from 22 to 82 ng/ml below the normal range. Partial correlation coefficient analysis demonstrated that baseline IGF-I and the percent difference of each the body weight, MAMC, prealbumin and albumin were highly significantly correlated (r = 0.431, 0.641, 0.624 and 0.348, respectively; p = 0.014, 0.001, 0.001 and 0.028, respectively). The percent difference of IGF-I did not correlate significantly with that of any other nutritional index during the 1-month observation without administration of r-hGH.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:IGF-I as an early indicator of malnutrition in patients with end-stage renal disease. 805 72

The case of a 39-year-old man with von Recklinghausen's disease, presenting with emaciation and a marked increase in serum growth hormone concentration, is presented. Neuroradiological and histological examination confirmed anaplastic astrocytoma in the optic chiasm-hypothalamic region. This is a rare case of diencephalic syndrome and von Recklinghausen's occurring together in an adult.
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PMID:von Recklinghausen's disease with diencephalic syndrome in an adult. Case report. 811 71


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