Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027497 (nausea)
 23,468 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied the clinical, biochemical, and genetic features of eight patients with the autosomal recessive mitochondrial syndrome mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). MNGIE is clinically characterized by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms (recurrent nausea, vomiting, or diarrhea) with intestinal dysmotility, and histologically abnormal mitochondria in muscle. Brain MRI scans were consistent with leukodystrophy in seven patients examined. Nerve conduction and EMG studies were compatible with a sensorimotor neuropathy; quantitative EMG of two patients suggested a myogenic process. Muscle mitochondrial enzyme analysis revealed a partial defect of cytochrome c oxidase activity in five patients; three had additional respiratory chain enzyme defects. Two patients had isolated complex I defects, and one had normal respiratory chain function. Southern blot analysis revealed multiple deletions of mitochondrial DNA in four of eight patients.
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PMID:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. 816 33

We report a 64-year-old man with recurrent bouts of blurred vision who died after developing an abdominal mass. He was well until June of 1985 when he was 59-years-old when he had an acute onset of loss of vision in his right eye. He was treated by prednisolone with a complete remission. In August of 1986, he had another bout of blurring of vision in his left eye. Once he lost his left vision completely, from which he showed slow recovery. In January of 1987, he developed blurring of his right eye and loss of pain and touch sensation in his right leg. Since then he repeated loss of vision in his right or left eye five times, and he was admitted to our hospital in May of 1990. On admission, he was alert and oriented. General physical examination was unremarkable. Neurologic examination revealed bilateral optic nerve atrophy. He could not discriminate light or dark by either eye. Other cranial nerves were unremarkable. He could walk in a wide-base only with support; spasticity was noted in his left leg. Muscle strength was preserved. Deep reflexes were exaggerated in both legs with extensor plantar reflex bilaterally. Pain and touch sensation was decreased in the left leg by 30%, and vibration was diminished in both feet. Position sense was preserved. Routine blood counts and chemistries were unremarkable. Cranial MRI scans revealed multiple high-signal intensity lesions in both pontine bases, basal ganglia, thalami, and in the deep cerebral white matters. He was treated with oral prednisolone, plasmapheresis, lymphocytapheresis, and then immuran. His vision showed only slight recovery to discriminate light and dark. In October of 1990, slight weakness appeared in his both legs. In December of that year, he developed nausea, and a fiber colonoscopic study revealed a stenosis in the transverse colon. In March of 1991, he developed anemia and liver dysfunction. In July of that year, jaundice appeared, and his serum bilirubin was increased. In October, his leg weakness became more prominent, and his cranial CT scans at that time revealed a low density change in the right cerebellum in the right superior cerebellar artery territory; in addition, multiple low density spots were scattered to be seen in both cerebral hemispheres including the basal ganglia and thalamic areas with ventricular dilatation and cortical atrophy.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[A 64-year-old man with recurrent blurred vision and an abdominal mass]. 816 57

We treated 13 patients with progressive MS with mitoxantrone. All patients received a standard IV dose of mitoxantrone (8 mg/m2) every 3 weeks for a total of seven infusions, with dosage adjustments depending on the hematologic profile at the nadir. The treatment was well tolerated, with the most common side effect being mild nausea. Four of seven women developed transient secondary amenorrhea. The postenrollment clinical behavior of these patients was generally more favorable than during the 18 months prior to enrollment (only three of 13 patients developed an increase in the Expanded Disability Status Scale of more than 0.5 points), suggesting a possible treatment effect, but comparison with two historical control groups (both the active and placebo groups from the Canadian Cooperative Trial of Cyclophosphamide and Plasma Exchange) does not suggest that mitoxantrone was efficacious. Eight of 12 patients had evidence of MRI activity on 13 of 29 follow-up visits. This small, open-labeled pilot study did not provide strong support for proceeding with a randomized, controlled trial of this dosage regimen of mitoxantrone in patients with progressive MS.
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PMID:An open-trial evaluation of mitoxantrone in the treatment of progressive MS. 832 45

We report a case of basilar artery migraine with transient MRI and EEG abnormalities. A 25-year-old male medical student developed a right occipital throbbing headache one hour after the abrupt onset of vertigo, nausea, left-sided homonymous hemianopsia and nystagmus. All of his complaints subsided the following day. He had suffered from attacks of headache accompanied by the same type of aural symptoms almost every ten days. He was therefore diagnosed as having basilar artery migraine. CT scans during the period of recurrent migraine demonstrated no abnormalities, while T2-weighted MR images revealed a high signal intensity region in the right occipital cortex and adjacent white matter perfused by rami temporales of the right posterior cerebral artery. Cerebral hypoperfusion was detected by a SPECT scanner in the right posterior region, where EEG recorded during the migraine attack demonstrated paroxysmal-localized sharp waves. MRI and EEG performed two months after the last attack showed no obvious abnormalities along with clinical disappearance of the migraine attacks. We found few reports of transient MRI changes associated with migraine. This case suggests that transient changes in MR images reflect vasogenic edema caused by migraine.
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PMID:[Basilar artery migraine with transient MRI and EEG abnormalities]. 833 77

A 34-year-old woman was admitted to our hospital in 1991, because of progressive headache, nausea and generalized edema. She was diagnosed as Crow-Fukase syndrome associated with plasma cell dyscrasia (IgA lambda type) in 1987, presenting with polyneuropathy, edema, and dermatologic changes. Those manifestations were improved with irradiation and corticosteroids, but headache, nausea and generalized edema gradually developed after the discontinuation of corticosteroid therapy in 1991. On admission, marked bilateral papilledema was noted but fever and meningeal irritation signs were absent. A spinal tap showed a clear cerebrospinal fluid (CSF) with an open pressure of more than 400 mmH2O, normal cell count, total protein level of 87 mg/dl, and IgG level of 12.3 mg/dl. The CSF culture for microorganisms was negative and the cytological study of CSF also was normal. De novo synthesis rate of CSF IgG was markedly elevated (35.3 mg/day). MRI of the head using Gd-DTPA revealed diffuse hypertrophic dura mater, which made the diagnosis of chronic pachymeningitis. Cerebral angiographies were normal. An RI cisternography demonstrated delayed absorption of the CSF without ventricular reflux. Gallium and bone scintigrams did not show any pathological accumulation of the isotopes in the head. The lack of abnormalities causing chronic pachymeningitis in this case suggests that the chronic pachymeningitis might be associated with Crow-Fukase syndrome. The development of increased intracranial pressure is not rare in Crow-Fukase syndrome but the etiology remained unknown in most cases. We therefore suggest that MRI study with contrast enhancement should be performed in cases of this condition with increased intracranial pressure.
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PMID:[A case of Crow-Fukase syndrome associated with chronic pachymeningitis]. 837 Feb 4

Previous work has demonstrated the importance of the Protein Kinase C (PKC) signal transduction system in regulating the growth rate of malignant gliomas in vitro. Tamoxifen inhibits PKC in a minority of malignant gliomas within the micromolar concentration range in vitro, a property distinct from its estrogen receptor blockade effect. Tamoxifen was administered orally in very high dosages to 11 patients (9 males:2 females, age range 26-73, mean 45 years) with malignant gliomas (anaplastic astrocytoma or glioblastoma multiforme) who had failed treatment with external beam radiation therapy (and additional chemotherapy in 2). The dosage administered was estimated to be that necessary to achieve tissue concentrations within the low micromolar range, shown necessary to inhibit PKC in these tumors in vitro, and is approximately 5 times that used for standard antiestrogen therapy. Tumor reduction on radiographic images (MRI and PET [18FdG uptake]) with clinical improvement occurred in 3 patients; halting of tumor progression clinically and radiographically occurred in an additional patient. Of the remaining seven patients, three patients had marked and rapid progression of their disease despite treatment (dead after 3, 4, and 6 months respectively). Complications of treatment included a deep venous thrombosis requiring anticoagulation in one patient, nausea in one patient, and "hot-flashes" in a third patient. Tumor biopsy and measurement of tamoxifen and its active metabolite within the tumor of one patient (non-responder) showed levels within the middle of the in vitro therapeutic range. Follow-up of alive patients ranges from 4-18 months (mean 10 months). These encouraging preliminary results in a minority of these patients suggests some potential for this type of therapy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Clinical and radiographic response in a minority of patients with recurrent malignant gliomas treated with high-dose tamoxifen. 838 28

A 21-year-old man was hospitalized with complaints of headache, nausea, polyuria, reduced body hair and reduced libido. Plain CT scan and MRI revealed multiple tumors in the pineal and suprasellar regions, and in the dorsal aspect of the medulla oblongata. Endocrinological examination showed hypopituitarism due to hypothalamic dysfunction. Replacement therapy with hydrocortisone was started preoperatively. Suprasellar tumor was explored. Postoperative CT scan and MRI showed marked diminishment of not only suprasellar tumor, but also tumors in the two other regions. These tumors were supposed to be sensitive to corticosteroid hormone. Histopathological diagnosis was T cell type malignant lymphoma. The patient was followed up for 10 months post-operatively with no recurrence on CT scan. Primary intracranial malignant lymphoma is not a rare disease today. However, primary intracranial T cell type lymphoma is extremely rare. Hypopituitarism due to suprasellar malignant lymphoma is also rare, and only 3 such cases have been reported previously. In our case, the tumor was located in the pineal and suprasellar regions, and the dorsal aspect of the medulla oblongata. Such disseminated malignant lymphoma as ours shows radiological resemblance to germ cell tumor. No such diseminated malignant lymphoma has been reported previously. We think that, in its radiological and clinical features, our case is very suggestive of primary intracranial malignant lymphoma.
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PMID:[A case of primary intracranial T cell type malignant lymphoma, radiologically resembling germ cell tumor and presenting hypopituitarism]. 839 52

We examined 111 consecutive patients with primary or metastatic brain tumors identified by CT or MRI to characterize brain tumor headache. The median age was 44 years; 34% had primary and 66% metastatic tumors. Headaches were present in 48%, equally for primary and metastatic brain tumors. Headaches were similar to tension-type in 77%, migraine-type in 9%, and other types in 14%. The typical headache was bifrontal but worse ipsilaterally, and was the worst symptom in only 45% of patients. Unlike true tension-type headaches, brain tumor headaches were worse with bending over in 32%, and nausea or vomiting was present in 40% of patients. The "classic" early morning brain tumor headache is uncommon. Nausea, vomiting, an abnormal neurologic examination, or a significant, change in prior headache pattern suggest that the headache may be caused by a tumor.
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PMID:Headaches in patients with brain tumors: a study of 111 patients. 841 11

Headache, nausea, ataxia and diplopia are leading symptoms of brain tumors in children. We report of 3 children with unusual symptoms and findings. Patient 1 complained of occasional headaches. Clinical examination showed neurological deficits and uveitis. Lumbar puncture revealed a pleocytosis and the oligoclonal banding study was positive. Cranial MRI demonstrated an enlarged pons. Under treatment with cortisone a clinical improvement was seen, but no change of the abnormalities in MRI. Several weeks later a biopsy was performed, which verified an astrozytoma. The second child developed a torticollis, following an accident, and later a refractory constipation was noted. A clinical evaluation was within normal limits. Several weeks later the patient complained of bladder disturbances. Patient 3 had a lateralized tic disorder without any neurologic deficits. CT showed an infratentorial tumor above the 4th ventricle. The tic disorder vanished only after the tumor was completely resected in the second operation. The reported cases demonstrate the fact that in an individual patient a brain tumor can cause unusual symptoms and findings which do not make the diagnosis obvious.
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PMID:[Unusual symptoms in brain tumors in childhood]. 845 15

Seventy-nine patients with known or suspected central nervous system lesions were studied with MRI in a phase III double-blind study. Forty were given gadopentetate dimeglumine (Gd-DTPA) and 39 gadodiamide injection (Gd-DTPA BMA), a new low-osmolar nonionic contrast enhancing medium. The dosage was 0.1 mmol/kg body weight, corresponding to 0.2 ml/kg. Spin-echo sequences were performed before and immediately after injection. The safety and efficacy of the two contrast media were assessed. No changes were observed in blood pressure, heart rate or neurological status. Five adverse effects (two episodes of headaches, two of nausea and one of dizziness) were reported by 2 patients who received gadodiamide injection and 1 who received gadopentetate dimeglumine. All events were mild and their relationship to the contrast media was uncertain. For both contrast media statistically significant changes in serum iron were observed 24 h after injection. More than 70% of the patients had abnormal findings on MRI, and in 56% of these contrast enhancement of the abnormal structure or lesion was seen. Contrast enhancement provided the diagnosis in about 50%, changed it in 40% and increased diagnostic confidence in 95%.
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PMID:A double-blind, comparative study of gadodiamide injection and gadopentetate dimeglumine in MRI of the central nervous system. 845 13


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