Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 14-year-old boy with ataxia-telangiectasis died of pneumonia, stomach cancer and its diffuse metastasis. The onset of walding gait was noticed from 3 years of age. Immune globulin including IgA was normal or slightly increased. Main autopsy findings were: old cancerous ulcer of 1.4 X 2.3 cm at the lesser curvature, and diffuse cancer infiltration over ulcer surface to serous membrane. The tumor was diagnosed histologically as adenocarcinoma tabulare mucocellulare.
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PMID:Stomach cancer of a 14-year-old boy with ataxia-telangiectasia. 19 57

Ftorafur is a 5-fluorouracil analogue which is slowly metabolized to 5-FU, resulting in prolonged therapeutic levels of this latter drug. Ninety-one evaluable patients with metastatic breast cancer were treated with Ftorafur, Adriamycin, cyclophosphamide, and BCG (ACFTOR-BCG), in an attempt to increase the effectiveness of the program or decrease its myelosuppressive toxicity. The results of this trial were compared to those previously reported with the combination of 5-FU, Adriamycin, cyclophosphamide, and BCG (FAC-BCG). Overall objective response rates were 65% and 76% for ACFTOR-BCG and FAC-BCG, respectively. Durations of response were 12 months and 14 months for ACFTOR-BCG and FAC-BCG (p = 0.53). The median survival of responders was 22 and 23.9 months, respectively. Substantial toxicity was observed with Ftorafur: nausea and vomiting severe enough to cause weight loss was observed in a substantially higher fraction of the patients treated with this drug than with 5-FU. Other side-effects, which were not observed with the 5-FU combination, were somnolence, dizziness, personality changes, tremor, ataxia, and confusion. No differences in myelosuppressive toxicity were observed between the two combinations, and the incidence of infectious complications was identical. The combination of Ftorafur, Adriamycin, cyclophosphamide and BCG did not offer any advantages with respect to increased effectiveness or reduced toxicity over the FAC-BCG regimen in breast carcinoma.
Cancer 1979 Aug
PMID:Ftorafur, adriamycin, cyclophosphamide and BCG in the treatment of metastatic breast cancer. 38 55

The toxicity of maytansine given by sc administration was studied in 5-week-old mald F344 rats. The LD50 (14-day) was 0.48 mg/kg. A dose response to drug administration was indicated by body weight changes and diarrhea. A single, acutely toxic dose of maytansine was shown to possess marked activity against dividing cells which was regarded as an important factor in the pathogenesis of acute lesions in tissues with a normal high rate of cell division. Histologically, mitotic figues were observed in many tissues from 6 to 24 hours after drug administration. Subsequently, necrotizing lesions led to atrophic changes in gastrointestinal tract mucosa, thymus, spleen, bone marrow, and testis. Maytansine also induced hemorrhagic lesions in parenchymatous organs and brain and perivascular monomuclear infiltration in the meninges, and chromatolysis and vacuolation of dorsal root ganglion cells, accompanied by clinical signs of ataxia. Ulcerative skin lesions were observed at the sc site of drug administration.
Cancer Treat Rep 1977 Oct
PMID:Acute toxicity of maytansine in F344 rats. 56 88

Although an isolated clinical case report was published in 1926 and another in 1941, ataxia-telangiectasia (A-T) was not established as a distinct entity until 1957, when it was first delineated clinicopathologically. Susceptibility to sinopulmonary infection was identified as the main cause of death and as the third major component of the syndrome; its heredofamilial nature was documented, and it was designated "ataxia-telangiectasia." In a later review of 101 published cases, lymphoreticular malignancy emerged as the second most frequent cause of death. Although the thymus was found to be absent in the first reported autopsy in 1957 and the serum IgA deficiency was first recorded in 1961, A-T was not established as an immunodeficiency disease until 1963. Thymic abnormality and dysgammaglobulinemia explain the 2 main causes of death, sinopulmonary and neoplastic, but the immunodeficiency is probably not the central defect. It does not appear to explain either of the 2 main clinical diagnostic keys, the ataxia and the telangiectasia, or any of the other seemingly unrealted multisystemic facets of this complex disorder. Some of our most provocative long-term clinical observations and recent pathologic findings in our series of 9 autopsies are discussed.
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PMID:Ataxia-telangiectasia: some historic, clinical and pathologic observations. 109 82

Among 85 neuropathy patients admitted and studied in the Department of Neurology, University of Occupational and Environmental Health, Japan, from 1979 to 1990, four patients suffering from sensory ataxia are reported with special reference to their etiological and pathological conditions. All of them were classified as having immune-mediated neuropathy. The first patient, a 56-year-old woman, was diagnosed as having chronic progressive ataxic sensory neuropathy. Her symptoms became progressively worse over a nine-year period after onset, but no evidence of cancer has been revealed. The positive rheumatoid factor was the only other feature noted. The second patient, a 63-year-old woman, after extensive laboratory studies, including the biopsy of the lymph node at the bifurcation of the bronchus in search of the cancer, was diagnosed as having subacute sensory neuropathy with small cell carcinoma of the lung. Chemotherapy was completed without subsequent obvious clinical benefits. The clinical diagnosis was confirmed on autopsy 29 months after the onset. The symptoms of the first patient were indistinguishable from those of the second patient, especially in the early clinical stage. In both patients, the proprioceptive sensations were severely affected and the disturbance of the proprioceptive sensations seemed to be almost parallel with the ataxia signs. The main site of the lesion seemed to be the neuron in the dorsal root ganglion in the first patient, as well as in the second patient who showed a marked loss of neurons in the dorsal root ganglion considered to be the primary lesion on autopsy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Sensory ataxia in peripheral neuropathies--etiological and pathological analysis of four cases]. 132 18

The safety of ondansetron has been carefully evaluated through laboratory studies and clinical trials. Preclinical studies demonstrated that there is no end-organ toxicity in rats and dogs administered ondansetron doses 30 to 100 times those used in humans. At near-lethal doses of ondansetron, animals developed subdued activity, ataxia, and convulsions. Modest transient increases in serum transaminase values were observed. Concurrent administration of ondansetron with chemotherapy had no effect on tumor response in animals. The clinical safety of ondansetron has been evaluated in more than 2,500 cancer patients who received intravenous doses as large as 1.5 mg/kg. In adult patients receiving single-day chemotherapy, the incidence of adverse events was 36% with ondansetron (n = 647) and 50% with metoclopramide (n = 498). Diarrhea occurred in 9% of ondansetron patients and 19% of metoclopramide patients. Headache occurred in 14% of ondansetron patients and 8% of metoclopramide patients. Extra-pyramidal symptoms were reported in none of the ondansetron patients and 5% of the metoclopramide patients. The incidence of vascular occlusive events and seizure disorders was nearly identical with ondansetron and metoclopramide and similar to the cancer population in general. In a group of 209 pediatric patients receiving chemotherapy, the incidence of adverse events was 19% with ondansetron. Serum transaminase values increased significantly in 6% to 8% of ondansetron patients and 2% of metoclopramide patients. There was no apparent relationship between the cumulative dose of ondansetron administered and the incidence of increased transaminase values. However, there was an apparent relationship between the cumulative dose of cisplatin administered and the incidence of transaminase abnormalities. These data demonstrate that ondansetron is better tolerated than metoclopramide and is safe for intravenous administration to pediatric and adult patients receiving chemotherapy.
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PMID:Toxicity and side effects of ondansetron. 138 51

Nine patients presented with ataxia as the primary manifestation of epidural spinal cord compression. Eight had known cancer, the ninth an epidural abscess. Lower-extremity dysmetria, gait ataxia, or both, were the only neurologic signs in five patients. An incorrect initial diagnosis led to delay in treatment and subsequent neurologic deterioration in six patients. Failure to recognize isolated, painless ataxia as the initial manifestation of spinal cord compression and appropriately treat the disorder can result in irreversible spinal cord deterioration.
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PMID:Ataxia in epidural spinal cord compression. 824 May 25

Involvement of the central nervous system (CNS) is common in patients with advanced disease due to human immunodeficiency virus (HIV). Symptoms range from lethargy and apathy to coma, incoordination and ataxia to hemiparesis, loss of memory to severe dementia, and focal to major motor seizures. Involvement may be closely associated with HIV infection per se, as in the AIDS dementia complex, but is frequently caused by opportunistic pathogens such as Toxoplasma gondii and Cryptococcus neoformans or malignancies such as primary lymphoma of the CNS. The clinical presentations of attendant and direct CNS involvement are remarkably non-specific and overlapping, yet a correct diagnosis is critical to successful intervention. Toxoplasmic encephalitis is one of the most common and most treatable causes of AIDS-associated pathology of the CNS. A great deal has been learned in the last 10 years about its unique presentation in the HIV-infected patient with advanced disease. Drs. Benjamin J. Luft of the State University of New York at Stony Brook and Jack S. Remington of the Stanford University School of Medicine and Palo Alto Medical Foundation's Research Institute have studied T. gondii for many years and are two of the leading experts in the field. This commentary comprises an update of their initial review (J Infect Dis 1988;157:1-6) and a presentation of the current approaches to diagnosing and managing toxoplasmic encephalitis in HIV-infected patients.
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PMID:Toxoplasmic encephalitis in AIDS. 152 Jul 57

Ataxia-telangiectasia (A-T) is a progressive autosomal recessive disease featuring neurodegeneration, immunodeficiency, chromosomal instability, radiation sensitivity and a highly increased proneness to cancer. A-T is ethnically widespread and genetically heterogeneous, as indicated by the existence of four complementation groups in this disease. Several "A-T-like" genetic diseases share various clinical and cellular characteristics with A-T. By using linkage analysis to study North American and Turkish A-T families, the ATA (A-T, complementation group A) gene has been mapped to chromosome 11q23. A number of Israeli Arab A-T patients coming from large, highly inbred families were assigned to group A. In one of these families, an additional autosomal recessive disease was identified, characterized by ataxia, hypotonia, microcephaly and bilateral congenital cataracts. In two patients with this syndrome, normal levels of serum immunoglobulins and alpha-fetoprotein, chromosomal stability in peripheral blood lymphocytes and skin fibroblasts, and normal cellular response to treatments with X-rays and the radiomimetic drug neocarzinostatin indicated that this disease does not share, with A-T, any additional features other than ataxia. These tests also showed that another patient in this family, who is also mentally retarded, is affected with both disorders. This conclusion was further supported by linkage analysis with 11q23 markers. Lod scores between A-T and these markers, cumulated over three large Arab families, were significant and confirmed the localization of the ATA gene to 11q23. However, another Druze family unassigned to a specific complementation group, showed several recombinants between A-T and the same markers, leaving the localization of the A-T gene in this family open.
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PMID:Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome. 155 65

Clinical characteristics were examined in 5 elderly patients whose brain showed typical features of Wernicke's encephalopathy at the autopsy. All 5 were females with a mean age of 67 +/- 4 years old. The pathological diagnosis of Wernicke's encephalopathy was based on the presence of bleeding or atrophy of bilateral mammilary bodies, proliferation of capillaries and increase of macrophages in mammilary bodies, midbrain periaqueductal gray matter and periventricular area, with relatively intact neurons. Wernicke's encephalopathy was diagnosed clinically only in one case. The remaining four had no clinical diagnosis of Wernicke's encephalopathy. Underlying diseases were varied including neurological, metabolic, gastrointestinal disorders and malignancy. The predominant symptom, consciousness disturbance, was seen in 4 cases. Two of them showed a comatose state. Ocular symptoms and ataxia were observed in 2 cases. Laboratory findings revealed leukocytosis and anemia in 3 cases, hypoproteinemia in 4 cases. One case was alcoholic, but the other four were non-alcoholics and developed the disease after prolonged malnutrition. At the onset of the disease, 4 cases were receiving glucose and electrolyte infusion without vitamins, at the onset of the disease. We propose that in elderly patients with consciousness disturbance of unknown cause, Wernicke's encephalopathy should be taken into consideration even in non-alcoholics, and thiamine infusion should be commenced at once when the disease is suspected even when typical symptoms are lacking.
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PMID:[Clinical characteristics of Wernicke's encephalopathy in the elderly]. 156 Jun 7


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