Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A previously unrecognized autosomal dominant syndrome affecting oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa with cataracts, follicular keratosis, nonscarring alopecia, and terminal lung disease is described in a four-generation kindred of German extraction. Severe photophobia, tearing, and nystagmus in infancy heralds the development of keratitis, corneal vascularization, and lens cataracts. Repeated corneal transplants have failed. Red, periorificial mucosal lesions involving the above structures are noted by 1 year of age and may persist throughout life. Chronic rhinorrhea and repeated upper respiratory infections frequently progress to bilateral pneumonia accompanied by loss of hair, diarrhea, occasional melena, enuresis, pyuria, and hematuria. Spontaneous pneumothorax is frequent, terminating in fibrocystic-type lung disease and cor pulmonale. Women have had repeated abnormal vaginal PAP smears. Histologically the mucosal epithelium shows dyshesion, thinning of the epithelial layer, and dyskeratosis. Mucosal PAP smears show lack of epithelial maturation, cytoplasmic vacuoles and inclusions, and individual cell dyskeratosis. Histochemically there is a lack of cornification and keratinization. Ultrastructural studies show lack of keratohyalin granules, a paucity of desmosomes, intercellular accumulations, cytoplasmic vacuolization, and formation of bands and aggregates of filamentous fibers and structures in the cytoplasm resembling desmosomes and gap junctions. The condition is probably a panepithelial cell defect of desmosomal and gap junction structure most prominently affecting mucosal epithelia associated with an increased susceptibility to a variety of adventitious organisms.
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PMID:Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. 48 50

Bithermal caloric testing was carried out in 57 normal subjects and 374 patients presenting with subjective complaints of vertigo over a 4-year period from December 1984 to December 1988. Responses were quantitatively assessed using a DEC PDP 11/73 laboratory minicomputer. Patients were classified as normal and abnormal according to caloric responses based on standard methods of calculating unilateral hypoexcitability and directional preponderance using the maximum slow component velocity. Results obtained from the slow component velocity for unilateral hypoexcitability and directional preponderance were compared to the same values obtained from the overall positional envelope calculated by an integration of the slow component velocity vs. time curve. Although duration of nystagmus varies extensively in normal subjects and has not proven clinically useful in identifying abnormalities, the integral of response amplitude over time gives a more complete description of the vestibular response. However, when compared to the maximum slow component velocity in abnormal patients, the positional envelope identified only 94 of the total 119 abnormalities (79%). Therefore, maximum slow component velocity is the more sensitive response parameter in identifying vestibular pathology.
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PMID:Positional envelope as a response parameter in caloric testing. 195 May 25

Effects of the ocular fixation upon caloric nystagmus were quantitatively analyzed and compared between normal subjects and patients by using a PDP 11/40 computer. The slow-phase velocity was the best parameter to separate normal from abnormal visual fixation. An analysis of caloric nystagmus with failure of fixation-suppression (FFS) made it possible to classify patterns of FFS into three types. The combination of FFS with impairment of the optokinetic responses provides a useful diagnostic tool with respect to lesions located between the brain stem and the cerebellum.
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PMID:Computer analysis of fixation-suppression of caloric nystagmus. 713 47