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 Dutch kindred with the Hermansky-Pudlak syndrome (HPS) is described. We show for the first time evidence of a lowered platelet 5-hydroxytryptamine content in obligate heterozygotes. Platelet ATP and ADP levels and ATP/ADP ratio were normal in these patients. Platelet aggregation with ADP, collagen and adrenaline was within the normal range. In contrast to the homozygous HPS patients the heterozygotes are normally pigmented and none has diaphanous irides, nystagmus or a bleeding tendency. All homozygous HPS patients have the typical triad of oculocutaneous albinism, pigmented macrophages in the bone marrow and a bleeding disorder, based on a platelet dysfunction. The platelets showed the typical characteristics of a storage pool deficiency. Their platelet factor 3 availability was decreased and the aggregation patterns showed an absent second wave with ADP, adrenaline and absent collagen aggregation. Platelet ADP levels were strongly decreased in all homozygous HPS patients, whereas ATP was lowered only in 3 out of 6 HPS patients. The 5-hydroxytryptamine content of their platelets was very low (15-20% of normal).
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PMID:The Hermansky-Pudlak syndrome. Evidence for a lowered 5-hydroxytryptamine content in platelets of heterozygotes. 84 98

Patients with transient ischemic attack (TIA) in the vertebrobasilar artery more often complain of disturbance of equilibrium, such as vertigo or dizziness, than of auditory disorders, such as hearing impairment or tinnitus. The author induced TIA in rabbits by injecting adenosine diphosphate (ADP) into the right vertebral artery. Observations of rotatory nystagmus have shown that a peak level of directional preponderance appeared 1 minute after injection of ADP (0.3mg/kg b.w.) and continued for more than 4 minutes. On the other hand, the amplitude of auditory brainstem responses (ABRs) presented no significant changes following the injection of ADP (0.5mg/kg b.w.). However, greater amounts of ADP (1.0 and 2.0 mg/kg b.w.) were found to reduce the amplitude of ABR-waves, although significant reduction was observed for only less than 1 minute. This change was represented by flattening of the later part of the waves, with the first wave much less affected. Electrocochleogram (E. Coch. G.) have also demonstrated a transient reduction in amplitude 10 seconds after injection of ADP (4.0mg/kg b.w.) with correspondingly rapid recovery. In cases of hypertension due to noradrenaline load or trimethaphan-induced hypotension, reduced amplitudes were more profound and continued longer, returning to its normal range within 1 minute. Differences in susceptibility between the equilibrium system and auditory system in TIA of the vertebrobasilar artery are discussed.
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PMID:[Difference in susceptibility between auditory and equilibrium function in rabbits with experimentally-induced transient ischemic attack]. 274 23