Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two new cases of infantile myoclonic encephalopathy are reported and a survey of literature is given. The disease is characterized by generalised myoclonic jerks in all striated muscles, by cerebellar ataxia and by fast, jerking, mostly conjugated irregular eye movements (opsoclonus). The disease develops mostly during late infancy and early childhood. The pathogenesis is unknown, probably it is caused by immunological reactions to various agents. Treatment with ACTH or corticosteroids leads to rapid remission of the initial neurological symptoms, but it is suggested that therapy does not prevent frequent sequelae of psychomotor retardation and speech distubances. Remarkably, there is the high coincidence of infantile myoclonic encephalopathy and neuroblastoma. Therefore it is necessary to keep in mind the possibility of a causative neuroblastoma in all children with myoclonic encephalopathy and to control repeatly radiological findings and urin-excretion of catecholamines as well as their metabolic products.
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PMID:[Myoclonic encephalopathy in childhood (author's transl)]. 19 87

Children with neuroblastoma whose opsomyoclonus recurs or persists after initial surgery should be carefully evaluated for tumor. If no tumor is detectable, therapy with ACTH should be considered in patients whose symptomatology is severe enough to compromise normal development.
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PMID:Opsomyoclonus and neuroblastoma. Response to ACTH. 22 27

The case of a two year-old boy is described with dancing eyes syndrome (DES) together with ganglioneuroblastoma. Surgical removal of the tumour and ACTH therapy resulted in rapid improvement, and an almost symptome-free condition. The literature is reviewed. Need of vigorous search for an occult neuroblastoma in DES is pointed out, since the early diagnosis and tumour's surgery can significantly improve the outcome.
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PMID:[Childhood dancing eye syndrome in occult neuroblastoma]. 132 37

Insulin function in the nervous system is still poorly understood. Possible roles as a neuromodulator and as a growth factor have been proposed (Baskin et al., 1987, Ann. Rev. Physiol. 49, 335-347). Stable cell lines may provide an appropriate experimental system for the analysis of insulin action on the various cellular components of the central nervous system. We report here a study to investigate the presence and the properties of insulin specific binding sites in the murine neuroblastoma line, N18TG2, together with insulin action on cell growth and metabolism. Also, receptor internalization has been studied. Binding experiments, carried out in standard conditions at 20 degrees C, enabled us to demonstrate that these cells bind insulin in a specific manner, thus confirming previous findings on other cell lines. Saturation curves showed the presence of two binding sites with Kd 0.3 and 9.7 nM. Competition experiments with porcine and bovine insulin showed an IC50 of 1 and 10 nM, respectively. Competition did not occur in the presence of the unrelated hormones ACTH and FSH. Dissociation experiments indicated the existence of an internalization process of the ligand-receptor complex; this was confirmed by an ultrastructural study using gold conjugated insulin. As far as the insulin action in N18TG2 cells is concerned, physiological concentrations stimulate cell proliferation, whereas no stimulation of glucose uptake was observed, indicating that insulin action in these cells is not mediated by general metabolic effects. On the basis of these data, N18TG2 line appears to be a very suitable model for further studies of the neuronal type insulin receptors, and possibly insulin specific action on the nervous system.
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PMID:Insulin receptor in mouse neuroblastoma cell line N18TG2: binding properties and visualization with colloidal gold. 141 41

Molecular characterization of neuroendocrine (Merkel cell) carcinoma of the skin. Review of the literature and report of three cases. Although neuroendocrine carcinoma of the skin (NECS) is comparatively a rare clinical-histological entity, numerous morphological and ultrastructural studies have been carried out since the tumor was identificated by Toker (1972). Recently immunocytochemistry has allowed a better molecular characterization (immunophenotype) of this tumor and a more exact diagnosis. The main problem for the pathologist is the differential diagnosis between NECS and skin neoplasms--both primitive and metastatic--which require a more aggressive treatment. Often the classical morphological criteria do not distinguish NECS from non-Hodgkin's lymphoma, amelanotic melanomas, cutaneous metastases of lung small cell carcinoma or of neuroblastoma. The co-expression of cytokeratins and neurofilaments constantly found in NECS, is surely the best differential criterion from non-neuroendocrine carcinomas. Furthermore, the typical paranuclear location of both the intermediate filaments in NECS is a distinctive peculiarity as opposed to lung microcytoma, where cytokeratins and neurofilaments, when present, show widespread perinuclear positivity. Chromogranin A is found only in a small percentage of tumor cells, whilst synthesis of calcitonin, somatostatin, gastrin, ACTH, is very rare. Finally, the lack of common leukocyte antigen (CLA), S-100 protein and vimentin in NECS rules out the diagnoses of lymphoma, melanoma and sarcoma respectively.
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PMID:[Molecular characterization of cutaneous neuroendocrine (Merkel cell) carcinoma. Review of the literature and presentation of a caseload]. 209 Oct 10

Acute cerebellar encephalopathy (ACE)--ataxia often associated with opsoclonus, polymyoclonus, and irritability--may be associated with neuroblastoma and should be suspected in a child who presents with ACE. The survival in ten children with ACE associated with neuroblastoma was 100%. Most of the tumors were ganglioneuroblastomas. The abdomen was the most common location for the tumor in this study although it also can be found in the mediastinum. All patients with this syndrome had a localized tumor. With ACTH therapy, ACE may resolve early postoperatively, but it tends to recur in most patients, continuing for as long as 3 years after the initial operation. Treatment with ACTH or prednisone modifies and rapidly clears the symptoms during the acute episode of recurrent ACE as well as helps to resolve subsequent neurologic sequelae. Significant neurologic sequelae persisted in seven of ten patients and included deficits in cognition or intellect, hyperactivity, impulsivity, emotional lability, and mild motor deficits. Seizures were seen in one patient.
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PMID:Clinical outcome in children with acute cerebellar encephalopathy and neuroblastoma. 272 81

Kinsbourne's syndrome (ataxia--opsoclonus--myoclonus) is described. The characteristics of this syndrome are: infections of the upper respiratory tract and enteric system and behavioural disturbances leading to the typical symptomatological triad. Various tests were carried out to determine the presence of neuroblastoma which is often associated (46%) to this syndrome. These tests resulted negative. Differential diagnosis was considered in relation to other conditions which present a characteristic symptomatology similar to Kinsbourne's syndrome. Synthetic ACTH (Synacthen) treatment produced a regression of the clinical symptoms. Based on the examinations carried out, which always resulted negative even after 36 months, and on the drug dependence, the present case was diagnosed as primitive opsoclonus.
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PMID:[Opsoclonic encephalopathy in childhood (Kinsbourne syndrome)]. 383 5

Substance P stimulated the uptake of guanidinium in neuroblastoma X glioma hybrid cells and neuroblastoma cells but not in polyploid glioma cells. Guanidinium has previously been shown to pass the action potential Na+ channel in the two neuronal cell lines. Half-maximal stimulation was reached at 3 microM substance P and, with the hybrid cells, a saturation was seen above 10 microM. The analogue (D-Pro2,D-Trp7,9)-substance P, recently described as a substance P antagonist, caused a stimulation of guanidinium uptake comparable to that seen in the presence of substance P and did not inhibit the stimulation exerted by substance P. The pharmacological properties of the substance P-activated ion channel were investigated. Tubocurarine, phentolamine and propranolol blocked the substance P-stimulated guanidinium uptake with half-maximal inhibitory concentrations of 0.5, 5 and 50 microM. A similar characteristics has been found previously with the veratridine-activated Na+ channel in the cell lines investigated here. Peptides structurally related to substance P such as physalaemin and eledoisin, or others such as neurotensin, bradykinin, D-Ala2, Met5-enkephalinamide and ACTH(1-24) did not affect guanidinium uptake. In view of the high concentrations of substance P required for eliciting an effect in the cell lines, the involvement of specific receptors is questioned. A direct interaction of the peptide with the action potential Na+ channel is discussed.
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PMID:Substance P enhances cation permeability of neuronal cell lines. 618 89

The ataxia-opsoclonus-myoclonus syndrome that was well individualized by Kinsbourne is mostly observed in young children (less than three years old in 90 percent of the cases). From six personal cases, and from a review of ninety cases of the literature, the clinical and etiological features, as well as the evolution of the syndrome, are studied. Prodromes (infectious and digestive manifestations) and comportmental changes usually precede the sudden onset of the clinical triad. Neurologic complementary investigations are typically normal during the acute phase. The frequent association (46 percent of the cases) of this syndrome to a neuroblastoma (usually thoracic) makes it very particular from the etiological point of view. The evolution is identical whatever the type ("isolated" or "tumoral"). Corticotherapy (ACTH or corticoids) is efficient in 60 percent of the cases. But recurrences and cerebral sequelae (mental deficiency and speech disorders) are frequent.
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PMID:[Ataxia-opsoclonus-myoclonus syndrome]. 626 94

Two cases of infantile myoclonic encephalopathy with opsoclonus and neuroblastoma are reported. One of them was observed in a 16-month-old boy and the remaining one in a 13-month-old girl. In both cases the tumour was a stade III abdominal neuroblastoma. Urinary catecolamine excretion was increased in the girl and that of VMA in both patients. Treatment of the tumour with surgery, radiotherapy and chemotherapy resulted in a immediate disappearance of the neurologic picture in the girl. The same measures were equally successful in the boy implemented with a course of ACTH. Both children are free of tumour three years later, and they do not bear any psychomotor sequelae. The main features of this rare association are briefly commented.
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PMID:[Infantile myoclonic encephalopathy with opsoclonus and neuroblastoma. Apropos of 2 cases]. 688 34


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