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

Twelve healthy male volunteers were treated double-blind and cross-over with 4-(3-indolyl-2-ethyl)piperidine (indalpine), a selective 5-hydroxytryptamine uptake inhibitor with antidepressant and anxiolytic properties, and placebo for two weeks. Soon after starting the treatment with indalpine (50 mg/d) they felt subjectively mild sedative-like effects which were abolished when retested after two weeks' maintenance (150 mg/d). Objectively measured psychomotor performance (coordinative and reactive skills, standing steadiness, nystagmus, flicker recognition) was not, however, affected by indalpine. The only adverse effect attributable to indalpine was ejaculatory dysfunction which was spontaneously reported by 67% of the subjects. When alcohol (1 g/kg) was administered during the treatment periods most tests showed impairment. However, indalpine neither enhanced nor counteracted the effects of alcohol in this trial.
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PMID:Effects of the novel 5-hydroxytryptamine reuptake inhibitor indalpine and ethanol on psychomotor performance. 336 83

The effects on human psychomotor performance of femoxetine (FEMO), a 5-hydroxytryptamine-selective antidepressant, alone and in combination with alcohol (EtOH) were compared with those of amitriptyline (AMI) and placebo in a controlled double-blind crossover trial in 11 student volunteers. Objective measurements (body sway, choice reaction, flicker fusion, tracking, nystagmus, digit symbol substitution, backwards recall) and subjective self-assessment (visual analogue scales, reporting of side-effects) were done after single doses of FEMO, AMI and placebo, and subacute administration of FEMO and placebo. Single doses of 200 mg FEMO did not impair psychomotor performance, but 50 mg AMI did so in several respects. AMI but not FEMO increased the objective and subjective effects of EtOH. After FEMO 600 mg/d for 10 days almost no objective difference from placebo was noted, although mild sedation at home was reported as a side-effect. FEMO either did not increase or slightly decreased the effect of EtOH on reactive and co-ordination skills. The plasma concentrations of FEMO varied widely from 0 to 156 ng/ml, as in previous clinical trials but reduced a blood 5-hydroxytryptamine concentration in each subject indicating an effect of FEMO on serotoninergic mechanisms.
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PMID:Acute and subacute effects on psychomotor performance of femoxetine alone and with alcohol. 406 88