Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Binding and physico-chemical properties of sex steroid-binding protein (SBP) from blood serum and those of estrogen-binding components from liver cytosol of pubertal male and female species of clawed frog Xenopus laevis were studied. It was shown that SBP from both sex species of X. laevis specifically binds estradiol (E2) (Ka=5 . 10(6) M-1). Concentration of SBP binding sites for E2 is 7 . 10(-12) mole per mg of protein. Testosterone 5alpha-dihydrotestosterone and E2 effectively compete with [3H]-E2 for SBP binding sites. Hexestrol, progesterone and corticosterone are weak competitors; estrone and E2-17-hemisuccinate do not compete at all. The Strokes radius of SBP is 4.4 nm; sedimentation coefficient is 4.6S. Molecular weight of SBP is 88000; f/f0 is 1.5 SBP from male frog sera has been purified 8.6-fold with 13% yield. Gel-filtration of [3H]-E2 complexes with liver cytosol proteins shows that the livers of male and female frog X. laevis consol proteins shows that the livers of male and female frog X. laevis contain very low amounts of macromolecular component, which specifically binds E2; this component differs from serum SBP in size and in hormonal specificity. It is assumed that this component is a receptor for estrogens.
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PMID:[Properties of sex steroid-binding protein from Xenopus laevis blood serum and detection of an estradiol-binding component in frog liver cytosol which differs from sex steroid-binding protein]. 21 28

Epidermal Nevus Syndrome (ENS) is characterized by linear verrucous lesions of the skin and congenital anomalies including bone deformities, eye and central nervous system (CNS) malformations. We describe a case of ENS associated with an abnormality of the carotid artery which is considered a risk for stroke.
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PMID:A case of epidermal nevus syndrome with carotid malformation. 238 1

The high capillary density of the hypoxic adapted mole rat may provide an efficient oxygen extraction system that permits the maintenance of a normal metabolic rate during hypoxia. We compared myocardial function and energetics in the isolated working heart of the mole rat with that of the white rat during oxygenation (567 torr O2) and 3 hypoxic periods of 319, 232 and 155 torr O2, each followed by a reoxygenation period. Control hearts were perfused for a similar time but with oxygenated buffer. The control oxygenated mole rat heart had higher coronary flow (CF), systolic pressure and myocardial O2 consumption (VO2) and lower coronary resistance compared with the heart of the white rat. The hypoxic heart of the mole rat had higher CF, aortic flow, stroke volume, VO2, mechanical power and efficiency, and lower coronary resistance compared with the hypoxic heart of the white rat. The better performance of the hypoxic mole rat heart was not due to a more efficient O2 extraction but was associated with a lower coronary resistance. The findings correlate with the known cardiac physiology of the intact mole rat.
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PMID:Evidence for improved myocardial oxygen delivery and function during hypoxia in the mole rat. 324 20

Eicosapentaenoic acid prevents platelet aggregation and inhibits arachidonate conversion into thromboxane A2 and prostaglandins. Consequently eicosapentaenoic acid might protect the brain from the ischemia that follows cerebral arterial occlusion. We studied the effect of eicosapentaenoic acid on cerebral ischemia in anesthetized gerbils. Ischemia was produced by bilateral carotid occlusion for 10 min, followed by reperfusion for 60 min, in gerbils fed either a standard diet (control) or a diet supplemented with menhaden fish oil for 2 months. The menhaden fish oil contained 17 mole % eicosapentaenoic acid. Regional cerebral blood flow was measured by the hydrogen clearance method and brain water by the specific gravity technique. In control animals cerebral blood flow was decreased 30 and 60 min after reperfusion (p less than .001) and brain water was increased (p less than .001). In the experimental group cerebral blood flow did not fall during reperfusion and edema did not appear. Brain prostaglandins and thromboxane were measured by radioimmunoassay. PGF2 alpha, PGE2, 6-keto PGF1 alpha and TXB2 increased after severe ischemia and reperfusion. The synthesis of brain diene prostaglandins was not altered by eicosapentaenoic acid. Our study indicates that eicosapentaenoic acid prevented post-ischemic cerebral edema and hypoperfusion, without affecting the levels of brain diene prostaglandin and thromboxane.
Stroke
PMID:Eicosapentaenoic acid: effect on brain prostaglandins, cerebral blood flow and edema in ischemic gerbils. 632 May 4

Body temperature, oxygen consumption, respiratory and cardiac activity and body mass loss were measured in six females and four males of the subterranean Zambian mole rat Cryptomys sp. (karyotype 2 n = 68), at ambient temperatures between 10 and 35 degrees C. Mean body temperature ranged between 36.1 and 33.2 degrees C at ambient temperatures of 32.5-10 degrees C and was lower in females (32.7 degrees C) than in males (33.9 degrees C) at ambient temperatures of 10 degrees C but did not differ at thermoneutrality (32.5 degrees C). Except for body temperature, mean values of all other parameters were lowest at thermoneutrality. Mean basal oxygen consumption of 0.76 ml O2.g-1.h-1 was significantly lower than expected according to allometric equations and was different in the two sexes (females: 0.82 ml O2.g-1.h-1, males: 0.68 ml O2.g1.h-1) but was not correlated with body mass within the sexes. Basal respiratory rate of 74.min-1 (females: 66.min1, males: 87.min-1) and basal heart rate of 200.min-1 (females: 190.min-1, males: 216.min-1) were almost 30% lower than predicted, and the calculated thermal conductance of 0.144 ml O2.g-1.h1.degrees C-1 (females: 0.153 ml O2.g-1.h-1.degrees C-1, males: 0.131 ml O2.g-1.h-1.degrees C-1) was significantly higher than expected. The body mass loss in resting mole rats of 8.6-14.1%.day-1 was high and in percentages higher in females than in males. Oxygen consumption and body mass loss as well as respiratory and cardiac activity increased at higher and lower than thermoneutral temperatures. The regulatory increase in O2 demand below thermoneutrality was mainly saturated by increasing tidal volume but at ambient temperatures < or = 15 degrees C, the additional oxygen consumption was regulated by increasing frequency with slightly decreasing tidal volume. Likewise, the additional blood transport capacity was mainly effected by an increasing stroke volume while there was only a slight increase of heart frequency. In an additional field study, temperatures and humidity in different burrow systems have been determined and compared to environmental conditions above ground. Constant temperatures in the nest area 70 cm below ground between 26 and 28 degrees C facilitate low resting metabolic rates, and high relative humidity minimizes evaporative water loss but both cause thermoregulatory problems such as overheating while digging. In 13-16 cm deep foraging tunnels, temperature fluctuations were higher following the above ground fluctuations with a time lag.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:The energetics of the common mole rat Cryptomys, a subterranean eusocial rodent from Zambia. 773 32

In acute cerebral ischemia there are severe damages of endothelium which have been recognized as the stimuli to secrete endothelin-1, an endothelium-derived peptide and the most potent vasoconstrictor ever known. This study was to measure plasma endothelin-1 level in patients with cerebral infarction and explore the relationship between endothelin-1 and ischemic stroke. The possible involvement of endothelin-1 in local regulation of cerebral arterioles was also investigated. Plasma levels of endothelin-1 were measured by radioimmunoassay in 21 patients. Using a micro-video system, the endothelin-1 actions were also observed on rat pial arterioles in vivo, and with incomplete cerebral ischemia model (rat), effect of ischemia affects the endothelin-1 action. There was a marked increase in plasma endothelin-1 level in the patients and the elevation persisted during the acute and subacute period of stroke. There was a positive correlation between the peptide concentration and infarct size (r = 0.655, P < 0.01). In rats, endothelin-1 (dose range: 10(-10) mole/L-10(-7) mole/L) induced a dose-dependent arteriole contraction after subdural administration. Arteriole calibers were decreased by 27.7% +/- 3.8% (10(-9) mole/L), 46.8% +/- 4.9% (10(-8) mole/L) and 78.5% +/- 4.7% (10(-7) mole/L), respectively. Cerebral ischemia significantly enhanced the action of endothelin-1 (96.4% +/- 7.2% vs 58.2% +/- 6.8%). Endothelin-1 plays an important role in regulating local circulation of ischemic brain. The notable and lasting increase in plasma level of endothelin-1 are associated with cerebral ischemia and infarction.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Increased plasma endothelin-1 concentration in patients with acute cerebral infarction and actions of endothelin-1 on pial arterioles of rat. 814 9

Abnormal cerebral venous drainage is associated with hypoxia and glucose deprivation, which can account for progressive neurologic deterioration in Sturge-Weber syndrome. Although developmental delay is common in Sturge-Weber syndrome, bihemispheric calcification is uncommon. Computed tomography (CT) and magnetic resonance imaging (MRI) were used to study the neuroanatomy, while single photon emission computed tomography (SPECT) was used concurrently to evaluate perfusion and glucose metabolism using 99mTc hexamethylpropyleneamine oxime (HMPAO) and [18F] fluorodeoxyglucose (FDG), respectively. Ten patients (10 to 22 years of age) with previously diagnosed Sturge-Weber syndrome, port-wine nevi, and clinical evidence of seizures or stroke-like episodes were studied. Five children with onset of seizures in the first year of life had overall clinical severity comparable to that of children with later-onset seizures. Calcification was present in both hemispheres in one patient; six additional patients had other radiologic evidence of bihemispheric disease; SPECT studies detected bihemispheric disease in four cases. Our study is the first to concurrently evaluate structure, perfusion, and glucose metabolism in Sturge-Weber syndrome and to show a mismatch between functional and structural brain imaging in both cerebral hemispheres. Widespread abnormalities of cerebral perfusion and glucose metabolism might explain the high prevalence of developmental delay associated with Sturge-Weber syndrome. Longitudinal studies are needed to define better the natural history of neurologic deterioration and radiologic progression that relates to central nervous system circulatory dysfunction in Sturge-Weber syndrome.
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PMID:High prevalence of bihemispheric structural and functional defects in Sturge-Weber syndrome. 988 30

Sturge-Weber syndrome is characterized by the presence of a port-wine nevus, epilepsy, stroke-like episodes, headache, and developmental delay. We studied 20 cases to test the hypothesis that decreased cerebral blood flow alters neurologic function by affecting cellular glucose metabolism. Group A consisted of 10 patients with a mean age of 1.75 years and early seizure onset (6.8 months), whereas group B was composed of older patients (mean age, 15.3 years) with later onset of seizures (3.7 years). Neurologic disease was more severe in group A, but group B had more widespread structural brain defects - shown on computed tomographic scans and magnetic resonance imaging - and metabolic brain defects shown on hexamethylpropyleneamine oxime and [18F] fluorodeoxyglucose single photon emission computed tomographic scans. Six group A cases had hypoperfusion at baseline and five of nine had worsening of perfusion and glucose metabolism 1 year later. A total of 119 stroke-like episodes occurred in six group A cases and eight group B cases; there were 65% fewer strokes in children treated with aspirin. The data suggest that progressive hypoperfusion and glucose hypometabolism are associated with neurologic deterioration in Sturge-Weber syndrome. Longitudinal studies are needed to better define the natural history of disease and to evaluate the safety and efficacy of aspirin therapy.
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PMID:Central nervous system structure and function in Sturge-Weber syndrome: evidence of neurologic and radiologic progression. 988 31

The extreme anoxia-tolerance of freshwater turtles under cold conditions is well documented, but little is known about their cardiac performance in such situations. Using chronic catheterization techniques, we measured systemic cardiac power output (PO(sys)), systemic cardiac output (Q(.)(sys)), heart rate (fh), systemic stroke volume (V(s,sys)), systemic resistance (R(sys)) and mean arterial pressure (P(sys)) in red-eared sliders (Trachemys scripta). The effects of cold acclimation and anoxic exposure were studied. Turtles were acclimated to either 22 degrees C or 5 degrees C, and the anoxic exposure was either acute (6 h) at 22 degrees C or chronic (3 weeks) at 5 degrees C. Cold acclimation alone decreased PO(sys) by 15-fold, representing a Q(10) of 8.8. In addition, fh and V(s,sys) decreased significantly, while R(sys) increased and moderated the arterial hypotension. Acute and chronic anoxic exposures significantly decreased PO(sys), V(s,sys), fh and P(sys) and increased R(sys). But the changes were qualitatively much larger with chronic anoxia. For example, acute anoxia in 22 degrees C-acclimated turtles decreased PO(sys) by 6.6-fold, whereas chronic anoxia in 5 degrees C-acclimated turtles decreased PO(sys) by 20-fold. The remarkable cardiovascular down-regulation that accompanies long periods of cold anoxia in these turtles was characterized by comparing cardiovascular status during chronic anoxia at 5 degrees C with that during normoxia at 22 degrees C. Cardiac PO(sys) was reduced 330-fold, through decreases in Q(.)(sys) (120-fold), fh (24.2-fold), V(s,sys) (5.7-fold) and P(sys) (2. 2-fold), while R(sys) was increased 64.6-fold. We also compared cardiac glycolytic rates by assuming that PO(sys) was proportional to ATP supply and that glycolysis yielded 18 times less ATP per mole of glucose than oxidative metabolism. At 22 degrees C, the 6.6-fold decrease in PO(sys) with anoxia suggests that a Pasteur effect was needed in cardiac tissues during acute anoxia. However, this would not be so with chronic anoxia at 5 degrees C because of the 22-fold decrease in PO(sys). We propose that the suppression of the Pasteur effect and the large Q(10) values for cold acclimation would conserve glucose stores and enable turtles to withstand anoxia much longer under cold than under warm conditions.
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PMID:The cardiovascular responses of the red-eared slider (Trachemys scripta) acclimated to either 22 or 5 degrees C. I. Effects of anoxic exposure on in vivo cardiac performance. 1107 74

Familial cerebral cavernous malformation (CCM) is an autosomal dominant disorder producing vascular anomalies throughout the central nervous system associated with seizures and hemorrhagic stroke. Linkage analysis has shown evidence for at least three genetic loci underlying this disorder with a founder mutation in the Mexican/Hispanic community. We report the first family of Chinese ethnic origin with CCM having a novel mutation in the CCM1 gene. The mutation in exon 19 causes a premature stop codon (Q698X) predicted to produce a truncated Krev1 interaction-trapped 1 (KRIT1) protein. Members of the family with this mutation have a wide range in age of onset with seizures, ataxia, spinal cord vascular malformation, headaches and skin lesions. An additional unrelated sporadic subject with brain lesions compatible with CCM as well as vascular skin findings suggesting the blue rubber bleb nevus (BRBN) syndrome has no mutation detected in the CCM1 gene. These findings expand the phenotype of and demonstrate further evidence for the heterogeneity in the CCM syndrome.
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PMID:Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity. 1195 62


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