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)

Opsoclonus-myoclonus syndrome is a very rare disorder with onset usually in the second year of life, and the clinical features of opsoclonus, myoclonus, ataxia, irritability, sleep disturbance, and, often but by no means invariably, an associated neuroblastoma. There is no diagnostic test; brain imaging is normal and other investigations produce nonspecific results; the diagnosis is clinical and the condition is not infrequently mistaken for acute cerebellar ataxia. The pathophysiology is thought to be immunological on the basis of the paraneoplasticity and the symptomatic (though often incomplete) response to immunomodulatory therapies; a number of autoantibodies have been identified to a variety of antigens and cerebrospinal fluid B-cell numbers found to be increased but no diagnostic immunological marker has yet been identified. Therapeutic benefit has been described with steroids, intravenous immunoglobulin, cyclophosphamide, azathioprine, and rituximab, but randomized trials are extremely difficult because of the rarity of the condition. Successful treatment of the tumor, when present, does not usually improve neurological outcome. Disease course may be monophasic or chronic relapsing and children are often left with long-term motor, behavioral, and cognitive sequelae.
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PMID:Opsoclonus-myoclonus syndrome. 2362 30

Opsoclonus-myoclonus syndrome (OMS) may be associated with ANNA-1 (anti-Hu) autoantibodies. The standard treatment with IVIG, steroids, and anti-CD20 monoclonal antibody may fail, and optimal therapy is unknown. A patient developed OMS with high-titer ANNA-1 following recovery from neuroblastoma. She failed standard therapy and had only transient response to rituximab. Treatment with the humanized anti-CD20 monoclonal antibody ofatumumab combined with methotrexate resulted in transient neurologic improvement and decrease of ANNA-1. This suggests that ofatumumab combined with methotrexate should further be considered OMS patients, particularly in refractory disease.
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PMID:Ofatumumab for refractory opsoclonus-myoclonus syndrome following treatment of neuroblastoma. 2381 21

Opsoclonus-myoclonus syndrome (OMS) is a rare and primarily immune-mediated disease in children and adults. The main symptoms include opsoclonus, myoclonus and ataxia. In children, the symptoms also include irritability, and, over a long-term course, learning and behavioural disturbances. OMS can be idiopathic, parainfectious or occur as a paraneoplastic (tumour-associated) syndrome. Paraneoplastic OMS in children is almost exclusively associated with neuroblastoma, whereas in adults, small cell lung cancer and breast cancer are the main underlying tumours. An autoimmune pathophysiology is suspected because childhood OMS patients have functionally active autoantibodies, proinflammatory changes in the cytokine network and immunotherapy responses. Children appear to respond regularly to immunosuppressive treatment. However, although the neurological symptoms show a good response, most children continue to show neuropsychological disturbances.
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PMID:Childhood opsoclonus-myoclonus syndrome: diagnosis and treatment. 2709 64

Opsoclonus Myoclonus Syndrome (OMS) is a rare disease in children which is often associated with neuroblastoma and, therefore, requires treatment by pediatric neurologists and oncologists. The ongoing OMS trial investigates questions related to OMS and potentially underlying neuroblastomas. To support this trial with an adequate IT infrastructure, linkage of neuroblastoma research databases with the OMS electronic data capture (EDC) system was required. Therefore, an EDC system for the OMS trial was developed and integrated into the research infrastructure of the European Network for Cancer Research in Children and Adolescents (ENCCA) project. Application of ENNCA's pseudonymization concept enabled linkage of the OMS trial with neuroblastoma trials from two different scientific societies, while being compliant with current data protection regulations. Linkage of the neurological and the oncological domain could successfully be demonstrated and a promising concept for secondary use of the data of both domains has been developed, proofing the broad potential of the concepts for cross-domain research as promoted in the ENCCA project.
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PMID:IT Infrastructure for Merging Data from Different Clinical Trials and Across Independent Research Networks. 2757 89

Opsoclonus-myoclonus syndrome (OMS) is a rare paraneoplastic disorder that is most often seen in association with pediatric neuroblastoma, breast cancer, small cell lung cancer, and prostate cancer. There are only three previously documented cases relating paraneoplastic OMS to ovarian cancer. We present a unique case of OMS related to a stage IIIC high grade serous ovarian carcinoma in a patient with germline BRCA2 mutation, with ten years of clinical follow up. This case report is presented to document the rare association of OMS with epithelial ovarian cancer. Additionally, in this case, OMS and epithelial cancer were successfully treated with medical therapy alone. This is the first report to our knowledge to document ten years of clinical follow up in this context, and to report that the association may not be evident at the time of ovarian cancer recurrence.
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PMID:Paraneoplastic opsoclonus-myoclonus syndrome as a presentation of high grade serous ovarian cancer. 3182 96

Opsoclonus Myoclonus Syndrome (OMS, or Opsoclonus Myoclonus Ataxia) is a rare condition that presents with saccadic movements of the eyes, cerebellar ataxia, and choreiform movements of the limbs. While previous reports have described the use of ultrasound, CT, FDG-PET and traditional focused MRI for localization of OMS-associated masses, whole body MRI has not previously been reported for this purpose. Here we describe a 16-year-old patient who exhibited OMS and underwent whole body MRI to rule out the more commonly associated neuroblastoma. An ovarian mass was discovered, resected, and pathology confirmed benign teratoma - there was subsequent resolution of symptoms after complete surgical resection. Whole body MRI should be considered in pediatric cases of OMS due to the paraneoplastic nature of the disease with associated tumor, high sensitivity of disease detection, lack of ionizing radiation, excellent tissue resolution and demonstrated effectiveness in pediatric imaging.
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PMID:Pediatric whole body MRI detects causative ovarian teratoma in opsoclonus myoclonus syndrome. 3189 69


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