Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Exposure to microgravity and space travel produce several neurologic changes, including SAS, ataxia, postural disturbances, perceptual illusions, neuromuscular weakness, and fatigue. Inflight SAS, perceptual illusions, and ocular changes are of more importance. After landing, however, ataxia, perceptual illusions, neuromuscular weakness, and fatigue play greater roles in astronaut health and readaptation to a terrestrial environment. Cardiovascular adjustments to microgravity, bone demineralization, and possible decompression sickness and excessive radiation exposure contribute further to medical problems of astronauts in space. A better understanding of the mechanisms by which microgravity adversely affects the nervous system and more effective treatments will provide healthier, happier, and longer stays in space on the space station Freedom and during the mission to Mars.
 ...
PMID:Neurology of microgravity and space travel. 143 67

Expansion of a CGG.CCG-repeat tract in the 5'-untranslated region of the FMR1 (Fragile X mental retardation 1) gene causes its aberrant transcription. This produces symptoms ranging from premature ovarian failure and Fragile X associated tremor and ataxia syndrome to FMR syndrome, depending on the size of the expansion. The promoter from normal alleles shows four protein-binding regions in vivo. We had previously shown that in mouse brain extracts two of these sites are bound by USF1/USF2 (upstream stimulatory factors 1 and 2) heterodimers and NRF-1 (nuclear respiratory factor-1). We also showed that these sites are involved in the positive regulation of FMR1 transcription in neuronally derived cells. In the present study, we show that Sp1 (specificity protein 1) and Sp3 are also strong positive regulators of FMR1 promoter activity. We also show that, like Sp1 and E-box-binding proteins such as USF1 and USF2, NRF-1 causes DNA bending, in this case producing a bend of 57 degrees towards the major groove. The combined effect of the four protein-induced bends on promoter geometry is the formation of a highly compact arch-like structure in which the 5' end of the promoter is brought in close proximity to the 3' end. We had previously shown that while point mutations in the GC-boxes decrease promoter activity, deletion of either one of them leads to an increase in promoter activity. We can reconcile these observations with the positive effect of Sp1 and Sp3 if protein-induced bending acts, at least in part, to bring together distally spaced factors important for transcription initiation.
 ...
PMID:The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoter. 1547 57

We describe the first case of Weber's Syndrome to present as a manifestation of decompression illness in a recreational scuba diver. Weber's Syndrome is characterized by the presence of an oculomotor nerve palsy and contralateral hemiparesis. The patient was a 55 year-old male with a past medical history of a pulmonary cyst, in whom symptoms developed after a multilevel drift dive to a depth of 89 feet for 53 minutes, exceeding no-decompression limits. Symptom onset was within 30 minutes of surfacing and included the Weber's Syndrome, a sixth nerve palsy, dizziness, nausea, sensory loss, and ataxia. The patient received four U.S. Navy Treatment Tables with complete resolution of all neurological signs and symptoms. The mechanism of injury remains unclear, but may involve aspects of both air gas embolism and decompression sickness. Individuals with pre-existing pulmonary cysts may be at increased risk for dive-related complications.
 ...
PMID:Weber's syndrome and sixth nerve palsy secondary to decompression illness: a case report. 1592 1

Decompression sickness (DCS) is a clinical syndrome occurring usually within 24 hours of a reduction in ambient pressure. DCS occurs most commonly in divers ascending from a minimum depth of 20 feet (6 meters) of sea water, but can also occur during rapid decompression from sea level to altitude (typically > 17,000 feet / 5,200 meters). Manifestations are one or more of the following: most commonly, joint pain, hypesthesia, generalized fatigue or rash; less common but more serious, motor weakness, ataxia, pulmonary edema, shock and death. The cause of DCS is in situ bubble formation in tissues, causing mechanical disruption of tissue, occlusion of blood flow, platelet activation, endothelial dysfunction and capillary leakage. High inspired concentration of oxygen (O2) is recommended as first aid for all cases and can be definitive treatment for most altitude DCS. For most other cases, hyperbaric oxygen is recommended,most commonly 100% O2 breathing at 2.82 atmospheres absolute (U.S.Navy Treatment Table 6 or equivalent). Additional treatments (generally no more than one to two) are used for residual manifestations until clinical stability; some severe cases may require more treatments. Isotonic, glucose-free fluids are recommended for prevention and treatment of hypovolemia. An evidence-based review of adjunctive therapies is presented.
 ...
PMID:Hyperbaric oxygen treatment for decompression sickness. 2485 53