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)

Nystagmus signaling vestibular dysfunction was observed after vibratory stimulation with a 100 Hz ABC stimulator in a population of 36 patients with unilateral labyrinthine pathology (ULP) (pre and postoperative neuromas, vestibular neurectomies) and 10 patients with vestibular neuritis. The stimulus was applied on 3 bony points of the skull (vertex and 2 mastoids) and 2 muscular points of the neck (right and left posterior cervical region). These results were compared with those in 95 normal subjects and 19 cases of central disease and were correlated on the same day with results of the caloric test and head shaking test (HST). A consistent nystagmus was found in only 6 % of the normal subjects (specificity 94 %) and in 10 % of the central lesions, but in 94 % of the 36 peripheral ULP. The sensitivity of the test was equivalent to the HST. The signal was optimized in 30 patients: stimulus frequency, amplitude, stimulator mass, form of the contact, patient tolerance. The best results were obtained for a frequency of 100 Hz and an amplitude of 0.5 mm (there was no response under 0.1 mm vibration amplitude). Under videoscopy and 3D videonystagmography, the direction or side of the nystagmus was constant, but its axis (horizontal, oblique or rotational) changed according to the location of the stimulator: on the mastoid (elective location of stimulation with responses in 94 % of cases) the axis was most often horizontal or horizontal rotational. On the vertex location (where nystagmus was observed in 60 % of cases) the axis of nystagmus was most often rotational or oblique and sometimes horizontal-rotational. The nystagmus showed short latency (less than 200 ms). It started and stopped as stimulation was initiated and interrupted. Nystagmus persisted for the duration of patient tolerance. This nystagmus generally signifies unilateral vestibular weakness rather than vestibular predominance. It is a good indicator of unilateral vestibular dysfunction and could serve as a useful test in clinical practice. We discuss the origin of the nystagmus which may originate in muscle proprioception (by propagation of the vibration to neck muscles) or in the labyrinth (simultaneous excitation of 3 canals on each side).
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PMID:[Semiologic value and optimum stimuli trial during the vibratory test: results of a 3D analysis of nystagmus]. 1108 4

In this study we analysed the potential spin-off of magnifier training on the fine-motor skills of visually impaired children. The fine-motor skills of 4- and 5-year-old visually impaired children were assessed using the manual skills test for children (6-12 years) with a visual impairment (ManuVis) and movement assessment for children (Movement ABC), before and after receiving a 12-sessions training within a 6-weeks period. The training was designed to practice the use of a stand magnifier, as part of a larger research project on low-vision aids. In this study, fifteen children trained with a magnifier; seven without. Sixteen children had nystagmus. In this group head orientation (ocular torticollis) was monitored. Results showed an age-related progress in children's fine-motor skills after the training, irrespective of magnifier condition: performance speed of the ManuVis items went from 333.4s to 273.6s on average. Accuracy in the writing tasks also increased. Finally, for the children with nystagmus, an increase of ocular torticollis was found. These results suggest a careful reconsideration of which intervention is most effective for enhancing perceptuomotor performance in visually impaired children: specific 'fine-motor' training or 'non-specific' visual-attention training with a magnifier.
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PMID:Improvement of fine motor skills in children with visual impairment: an explorative study. 2153 36

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare leukoencephalopathy first described by van der Knaap in 2002. Diffuse cerebral hypomyelination and atrophy of the basal ganglia and cerebellum characterize H-ABC. We report a 9-year-old Japanese boy with H-ABC who had been suspected to have Pelizaeus Merzbacher disease. Brain MRI revealed delayed myelination, however, no other remarkable abnormal laboratory findings were found. PLP1 gene mutation was not detected and he had no nystagmus. He was diagnosed as having H-ABC at the age of 8 years because of supratentorial hypomyelination and progressive atrophy of the basal ganglia and cerebellum on the follow-up MRI. This boy's condition was clinically more severe than those with other reported patients with H-ABC.
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PMID:[A boy with hypomyelination with atrophy of the basal ganglia and cerebellum]. 2385 11