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 report a 56-year old female with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), presenting with protein-losing gastroenteropathy and serum copper deficiency. There was no neuromuscular disease in her family members. Three years prior to admission, she developed severe gastrointestinal symptoms including diarrhea, nausea, vomiting and ascites, and was diagnosed as having protein-losing gastroenteropathy based on alpha(1)-antitrypsin clearance and other tests. She was referred to our department when neurological symptoms were apparent. Neurological examinations revealed bilateral ptosis, ophthalmoplegia, hearing loss, facial and limb muscle weakness, mild sensory deficit of vibration on her feet and hypoactive deep tendon reflexes. Pigmentary retinopathy, cerebellar ataxia and heart block were not seen. Serum copper level was decreased to 45 micrograms/dl (normal: 83-155). Chronic intestinal pseudo-obstruction was proven by X-ray studies, and diffuse leukoencephalopathy demonstrated on brain MRI. On EMG, motor nerve conduction velocities were prolonged with temporal dispersion. Her muscle biopsy from biceps brachii muscle showed both neuropathic and myopathic changes, scattered ragged-red fibers and focal cytochrome c oxidase deficiency. Southern blot and polymerase chain reaction analysis on mitochondrial DNA showed no deletions nor point mutations. The clinical and pathologic findings of the present patient fulfilled the diagnostic criteria of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) proposed by Hirano et al. There are few reported patients with MNGIE in Japan, but none presented with protein-losing gastroenteropathy and serum copper deficiency. Since the copper is a cofactor of cytochrome c oxidase, decreased serum copper level may aggravate the respiratory chain enzyme metabolism in mitochondria. Therefore, treatment for gastrointestinal tract disturbance and copper administration may be necessary to prevent disease progression.
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PMID:[Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report]. 949 Sep 4

We described early features of MRI diffusion weighted images (DWIs) in three patients with lateral medullary infarction. Patient 1. A 65-year-old woman who complained of vertigo was admitted. Then, DWIs showed a high signal intensity in the right lateral medulla, though T2 weighted images (T2WIs) did not show any abnormalities. On the next day, when the typical symptoms and signs of lateral medullary infarction appeared, the lesion was recognized on both DWIs and T2WIs. Patient 2. A 48-year-old man was admitted 9 hours after he had dizziness, nausea, and repeated vomitings. When a diagnosis of Wallenberg syndrome was made on the neurological examination, MRI DWIs demonstrated a high signal intensity in the right lateral medulla. The lesion became apparent on T2WIs 82 hours after the onset. Patient 3. A 71-year-old man was admitted for nausea, dizziness, and repeated vomitings. A diagnosis of Wallenberg syndrome was made fifty eight hours after the onset, a lesion with high signal intensity in the right lateral medulla was evident on DWIs, but it was faint on T2WIs. We concluded that DWIs is useful in early diagnosis of lateral medullary infarction presenting Wallenberg syndrome.
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PMID:[Features of MRI diffusion weighted image in early stage of lateral medullary infarction presenting Wallenberg syndrome]. 961 82

Two siblings (one man, one woman), presenting with diarrhea, severe weight loss peripheral neuropathy, ophthalmoparesis, asymptomatic leukoencephalopathy were diagnosed as a new cases of Mitochondrial Neuro Gastro Intestinal Encephalomyopathy syndrome (MNGIE). Hirano (1994) defined four criteria for the diagnostic: peripheral neuropathy, ophthalmoparesis, gastro intestinal dysmotility, muscle biopsy with histologic features of mitochondrial myopathy (ragged-red fibers, muscle fibers with increased succinate deshydrogenase stain or ultra structurally abnormal mitochondria). In a review of the literature, we found 31 cases with MNGIE. With our two cases, we study this group of 33 patients. First symptoms begin about 13.5 years with a median of 10 years and extremes for 1 to 32 years. The first signs are gastro intestinal symptoms (recurrent nausea, vomiting or diarrhea with intestinal dysmotility) in 22 cases, an ophthalmoparesia in 4 cases, intestinal and ocular signs in 1 case, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 case, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 case. During the evolution, besides the cardinal signs, the following features have been observed with a variable frequency: hearing loss, short stature, facial palsy, dysphonia, dysarthria, sweating, orthostatic hypotension, bladder dysfunction, hepatomegalia, The laboratory features are: abnormal Nerve Condition Studies/EMG compatible with a sensory motor neuropathy, lactic acidosis, mitochondrial respiratory chain defect (essentially complex IV deficiency, complex I deficiency or multiple complex defect), MRI leukodystrophy, elevated CSF protein, heart block, ragged-red fibers or increased SDH stain. The prognosis is poor, due to a severe weight loss bordering on cachexia 13 patients died with a mean age of 28.5 years (median 24 years, extreme 3 years to 51 years). The prognosis seems to be worsened by a young age of onset. The 33 patients belong to 19 families with 7 cases of consanguinity. 25 patients had a brother, a sister or a cousin affected. The study of these families is compatible with an autosomic recessive transmission, suggesting a pathology of the nuclear genomi, probably impliying the control of the mitochondrial DNA replication. In fact, in 13 cases, a study of the mt DNA was realized: multiple deletions were founded in 6 cases, multiples mutations in one case, unique mutation in 1 case. In 5 cases ther was no evidence of abnormality. These precise etiology and pathophysiologic significance of the mt DNA deletions, and the heterogeneity of the modifications of the mt DNA remain unknown. However, the possibility of various phenotypes for a same genotype or inversely is known in mitochondriopathies.
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PMID:[MNGIE syndrome in 2 siblings]. 968 18

We have treated 14 patients with glomus tumor during the 4 years (of 1993 to 1997) using Leksell Gamma Knife radiosurgery. The male: female ratio was 1:3.7, and the mean age 48.6 years (range 22-75 years). The mean tumor volume was 5.5 cm3 (range 0.7-11.3 cm3). The mean maximum dose was 37.4 Gy (range 20-44 Gy). The mean margin dose was 19.4 Gy (range 10-25 Gy). In 3 patients, infrabasal spread of the tumor could not be delineated on peroperative stereotactic CT scans. As a result, this portion of the tumor was treated in 2 patients at a second stage using stereotactic MRI. Follow-up in 11 patients ranged from 6 to 42 months (mean 20.5 months). Hearing on the affected side was further impaired in 3 patients. Tinnitus, vertigo and ataxia improved in 3 patients, headache and nausea in 2 patients. Angiography after radiosurgery was performed in 3 patients. In one patient 12 months after the radiosurgery, pathological vascularisation had completely disappeared. In another patient pathological vascularisation was still present 22 months after the first stage, despite two-stage radiosurgery, although the tumor volume decreased 30%. In the last patient, vascularisation and tumor volume partially decreased 12 months after radiosurgery. The volume of the tumor decreased in 4 patients. No change in tumor volume has been observed in any of the other patients to date. Radiosurgery proves to be a safe treatment for glomus tumor with no acute morbidity. Because of its naturally slow growth rate, up to 10 years follow-up will probably be necessary to establish the therapeutic effectiveness of radiosurgery for glomus tumor.
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PMID:Leksell gamma knife radiosurgery of the tumor glomus jugulare and tympanicum. 978 46

Masses in the posterior fossa may be divided into extra-axial and intra-axial lesions. Because of its multiplanar capabilities, improved soft-tissue resolution and contrast, and the absence of scanning artifacts related to the osseous skull base, which are frequently present on CT, MRI is the imaging modality of choice in evaluating lesions arising in the posterior fossa. It is the best means of critically localizing lesions and determining the extent of disease. Analysis of the signal characteristics of a lesion on multiple different imaging sequences (T1-weighted, T2-weighted, and enhanced images) may provide information about the tissue constituents within a mass/neoplasm, such as the presence of cellularity, necrosis, and hemorrhage. MRI is also useful in guiding localization for brain tumor biopsies and assists in planning radiation therapy. However, CT also plays an important role. CT is frequently the first imaging study performed in patients with posterior fossa masses who often present with nausea, vomitting, ataxia, and other signs of increased intracranial pressure. It is a quick, available, and relatively inexpensive study to assess neurological emergencies including hydrocephalus, hemorrhage, and herniation syndromes. In addition, it frequently provides complimentary information, such as the presence of calcification or bony remodeling (osteosclerosis or osteolysis), which MRI is less sensitive in detecting.
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PMID:Imaging features of posterior fossa neoplasms in children and adults. 1023 5

Prolactinomas are the most common pituitary tumors. Hyperprolactinemia is characterized by increased production of prolactin, often leading to reproductive dysfunction and galactorrhea. Prolactinomas may also cause male-factor infertility by producing hypogonadism. In addition, if large, they can produce neurologic symptoms by mass effect in the sellar area. The diagnostic evaluation first requires exclusion of other causes of hyperprolactinemia, such as pregnancy, primary hypothyroidism, numerous medications, and miscellaneous causes. The second step in the diagnostic evaluation is to perform a head scan, preferably an MRI. This is essential in order to exclude a "pseudoprolactinoma" which would require surgery. Following diagnostic evaluation, the next step is to determine whether a patient with hyperprolactinemia has an indication for therapy, such as a macroprolactinoma (tumor >1 cm), hypogonadism (risk of osteoporosis), infertility, significant galactorrhea, acne, hirsutism, or headache. The treatment of choice for nearly all patients with hyperprolactinemic disorders is medical. In most cases, dopamine agonists (bromocriptine, pergolide, cabergoline) are extremely effective in lowering serum prolactin, restoring gonadal function, decreasing tumor size, and improving visual fields. The main limitation is side effects, particularly nausea or orthostatic dizziness. The newest dopamine agonist, cabergoline, can be given just once or twice a week, is more effective in normalizing prolactin and restoring menses than bromocriptine, and is significantly better tolerated. However, it is not yet recommended as first-line therapy for patients seeking fertility, because adequate safety data in pregnancy are not available. For the infrequent patient unable to tolerate, or resistant to, medical therapy, neurosurgical transsphenoidal resection may be necessary, particularly if the patient has a large lesion jeopardizing the optic chiasm. Hyperprolactinemia is a rewarding disorder to manage because patients typically respond well to medication, with restoration of menses and fertility.
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PMID:Hyperprolactinemia. 1033 64

Recent advances in neuroradiology have enabled us to approach cavernous angioma in the brain stem. A case of large cavernous angioma, which was located in the pontomedullary junction, was removed surgically. A 24-year-old female was admitted with occipitalgia, dizziness, nausea, gait disturbance. On neurologic examination, the patient had right hemiparesis, slight right facial palsy and paresthesia, right hemiparesthesia, dysphagia. T1 weighted Gd enhanced MRI revealed a mixed intensity lesion. These findings were thought to be consistent with a cavernous angioma. Follow up MRI findings demonstrated progressive increase in cavernous angioma. Vertebral angiograms showed a mass sign and a venous angioma in the midline of the pontomedullary junction. Therefore, the operation was performed in an attempt to remove the cavernous angioma through the midline of the fouth ventricle. The operation was performed under monitoring of electromyogram of facial muscle and external ocular muscle. The cavernous angioma was removed totally, and addition neurogical deficits were minimal.
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PMID:[Surgical removal of large cavernous angioma in the pontomedullary junction: a case report]. 1034 54

We report two patients with spontaneous intracranial hypotension (SIH) showing bilateral subdural hematoma. One of the two patients was a 32-year-old woman, and the other was a 27-year-old healthy woman. Both patients presented chronic, intractable, orthostatic headache with dizziness and nausea. In both patients, both general and neurological examinations were normal, and routine laboratory tests were all normal, except for dry taps of the lumbar puncture. Brain CT scans and MRI revealed thin, bilateral subdural hematomas. RI-cisternography and CT-myelography disclosed multiple extraspinal CSF leakages along the nerve root sheathes of the cervical segments and early bladder filling of the radionucleotides in both patients. These findings support an emerging hypothesis that the extraspinal CSF leakage may play a role for inducing SIH. Anatomical fragility around the nerve sheath, especially that of the lower cervical segments, may contribute to the pathophysiological mechanism underlying SIH. For making a prompt diagnosis of SIH and for the better understanding of the pathophysiological mechanism of SIH, RI-cisternography of the whole spinal segments is important.
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PMID:[Clinical and neuroradiological features of spontaneous intracranial hypotension: report of two cases]. 1036 70

An 18-year-old woman with extensive cerebral venous thrombosis is described. The symptoms were fever, headache, nausea, vomiting and focal deficits. The diagnosis was confirmed by CT and MRI. Anticoagulation was given. Full restitution was achieved within three months. Possible predisposing factors were use of oral contraceptive, smoking and anticardiolipin antibodies. The causes, symptoms, investigations and possible modes of therapy are discussed.
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PMID:[Cerebral venous thrombosis]. 1037 56

Cabergoline (CAB) treatment is an effective, safe and well tolerated approach for hyperprolactinemia. We investigated the efficacy of 24-month treatment with CAB in 37 patients with previously untreated PRL-secreting pituitary adenoma and evaluated the hormonal and neuroradiological changes after the discontinuation of long-term therapy. Eleven patients with macroprolactinoma (1M/10F) and 26 with microprolactinoma (4M/22F) started treatment taking 0.25 mg CAB twice a week for 4 weeks. The dose was increased stepwise in 0.5 mg increments until reaching lowest maximally effective and tolerated dose. CAB was withdrawn before the end of the study in 6 women who became pregnant and in one patient who showed a slight increase of the macroadenoma at MRI. During treatment, PRL levels decreased significantly in macro (11.1+/-1.1 vs 407.8+/-98.3 microg/l, p<0.001) and microprolactinomas (11.1+/-1.6 vs 193.8+/-23.4 microg/l, p<0.05) and normalized in all macro and in 23/26 microprolactinomas. In 3 cases PRL levels decreased but did not normalize because the appearance of side effects, such as nausea or hypotension, prevented the increase of the dose of CAB. The effective dose of drug correlated significantly with basal serum PRL levels (p<0.05) and with the pituitary tumor size (p<0.05). A significant decrease of the mean adenoma size was evident for macro (6.9+/-1.8 vs 16.0+/-1.8 mm, p<0.001) and microprolactinomas (3.0+/-0.5 vs 6.5+/-0.4 mm, p<0.001) at MRI. The tumor disappeared in 4 macroadenomas and in 11 microadenomas after 12 months of treatment. CAB withdrawal was followed by serum PRL increase in 13 cases after 3 months, in 6 after 6 months, in 2 after 9 months, and in one patient at the 12th month. Five patients showed normoprolactinemia with negative MRI after one year. Regular menses were restored in 7/10 macroprolactinomas and in all oligo-amenorrhoic patients with microadenoma; serum testosterone levels normalized in 2/3 hypogonadic men. Five out of 6 women become pregnant and had uneventful pregnancies which resulted in deliveries of normal babies. In conclusion, this study confirms the effectiveness and safety of CAB for patients with PRL-secreting pituitary adenoma and suggests that it can be considered a first choice treatment.
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PMID:Cabergoline: a first-choice treatment in patients with previously untreated prolactin-secreting pituitary adenoma. 1040 9


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