Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The bone inducing factor derived from BF osteosarcoma was purified in the following manner. Step 1. The sarcoma, grown in CBA mice, was excised and lyophilized. Step 2. The powder was washed with chilled acetone. Step 3. The acetone-treated powder was then homogenized with chilled distilled water. Step 4. Washing with 0.15M KCl. Step 5. The precipitate was incubated in in 0.2 N NH2OH, pH7.0, for 48 H at 25 degrees. After Step 5, the bone-forming activity showed a slight increase; however, the factor remained insoluble. The properties of the factor were as follows. The factor is relatively relatively heat stable; the osteogenic activity survived the treatment at 75 degrees for 15 min or at 55 degrees for 19 h. The activity was easily lost by mechanical shaking. Incubation with DNase, RNase, neuraminidase, chondroitinase ABC and beta-galactosidase left the osteogenic activity intact, but treatment with either pronase or collagnease destroyed this activity. The results suggest that the factor may be a protein. The activity was seen with the lyophilized BF osteosarcoma cells (without matrix), and it is probable that the factor was exclusively synthesized in the cells. The bone formation, observed across a millipore filter when living BF osteosarcoma enclosed in a millipore chamber was implanted in mice, suggests the synthesis and secretion of the factor from the cells.
 ...
PMID:Studies on a factor responsible for new bone formation from osteosarcoma in mice. 105 58

To accomplish an objective quantification of tremor in conscious unrestrained rats, a registration device based on accelerometry was developed. Tremor intensity was continuously recorded by a small piezoresistive accelerometer (Egal 125-10D, Entran Devices) mounted on the back of the freely moving rat. The accelerometer was connected to a Grass Polygraph, where the analog signal was quantified as arbitrary marks/min by a 7P10 integrating unit. The integrated signals were then further analyzed by a desk-top computer (Luxor ABC-80). By analyzing tremor response to central serotonergic system activation, the reproductibility as well as the advantages and limitations of this recording system were demonstrated.
 ...
PMID:Objective quantification of tremor in conscious unrestrained rats, exemplified with 5-hydroxytryptamine-mediated tremor. 387 79

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).
 ...
PMID:[Semiologic value and optimum stimuli trial during the vibratory test: results of a 3D analysis of nystagmus]. 1108 4

Recent consensus on the definition, phenomenology and classification of dystonia centres around phenomenology and guides our diagnostic approach for the heterogeneous group of dystonias. Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as 'isolated dystonia', while 'combined dystonia' refers to dystonias with other accompanying movement disorders. This review highlights recent advances in the genetics of some isolated and combined dystonic syndromes. Some genes, such as ANO3, GNAL and CIZ1, have been discovered for isolated dystonia, but they are probably not a common cause of classic cervical dystonia. Conversely, the phenotype associated with TUBB4A mutations expanded from that of isolated dystonia to a syndrome of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). Similarly, ATP1A3 mutations cause a wide phenotypic spectrum ranging from rapid-onset dystonia-parkinsonism to alternating hemiplegia of childhood. Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 mutations); dopa-responsive dystonias; young-onset parkinsonism (PARKIN, PINK1 and DJ-1 mutations); PRKRA mutations; and X-linked TAF1 mutations, which rarely can also manifest in women. Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations. Thus, new genes are being recognized for isolated dystonia, and the phenotype of known genes is broadening and now involves different combined dystonia syndromes.
...
PMID:Isolated and combined dystonia syndromes - an update on new genes and their phenotypes. 2564 88

Tubulinopathies are a group of recently described diseases characterized by mutations in the tubulin genes. Mutations in TUBB4A produce diseases such as dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), which are clinically diagnosed by magnetic resonance imaging (MRI). We propose the taiep rat as the first animal model for tubulinopathies. The spontaneous mutant suffers from a syndrome related to a central leukodystrophy and characterized by tremor, ataxia, immobility, epilepsy, and paralysis. The pathological signs presented by these rats and the morphological changes we found by our longitudinal MRI study are similar to those of patients with mutations in TUBB4A. The diffuse atrophy we found in brain, cerebellum and spinal cord is related to the changes detectable in many human tubulinopathies and in particular in H-ABC patients, where myelin degeneration at the level of putamen and cerebellum is a clinical trademark of the disease. We performed Tubb4a exon analysis to corroborate the genetic defect and formulated hypotheses about the effect of amino acid 302 change on protein physiology. Optical microscopy of taiep rat cerebella and spinal cord confirmed the optical density loss in white matter associated with myelin loss, despite the persistence of neural fibers.
 ...
PMID:MRI Features in a Rat Model of H-ABC Tubulinopathy. 3258 92