Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Linkage relationships between DNA polymorphism metH/TaqI as well as KM19/PstI and the mutation causing cystic fibrosis (CF) were analyzed in 48 families from Slovakia with th occurrence of CF. The polymorphism metH/TaqI did not show linkage disequilibrium with CF mutation. A pronounced allelic association was however found between CF mutation and KM19/PstI polymorphism. Of the 83 CF chromosomes analyzed, the given mutation was associated with the 6.6 kb allele in 82% of cases, while the rate of this allele in chromosomes without the mutation amounts only to 24%. The value of the standardized disequilibrium coefficient SCD = 0.58. Delta F508 deletion was addressly studied in 25 patients (i.e. 50 CF chromosomes). Of the 50 CF mutations, the given deletion was in 64% (32), while the remaining 36% (18) of mutations were of other, closely not identified types. Delta F508 deletion is in marked allelic association with the 6.6 kb allele of KM19/PstI polymorphism (SCD = 0.68). Between the given allele of KM19/PstI polymorphism and CF mutation no other allelic association was found but with delta F508. (Tab. 6, Fig. 1, Ref. 18).
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PMID:[The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population]. 135 71

One hundred and sixty two Holtzman rats of both sexes were malnourished during suckling and post-weaning periods. Some of them received periodic injections of growth hormone. After sampling, at 56 days of age, skulls were cleaned and measured. Differences within and between sexes were estimated by Mahalanobis D2 distances. Normal cranial differentiation between sexes (SCD) was decreased by malnutrition and restored by growth hormone treatment. The effect of the growth hormone on skull size was larger in malnourished males than females. This differential increment between sexes explains how growth hormone acted on the restoration of SCD.
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PMID:Sexual cranial dimorphism in malnourished rats treated with growth hormone. 142 18

A retrospective study was conducted in 20 Canadian hospitals to assess peritonitis rates of CAPD patients utilizing the SCD 210 patient assist device during a 30 month study period. A total of 175 patients having a cumulative SCD experience of 1,494 patient months were included in the survey. Sixty-eight patients experienced 116 episodes of peritonitis, i.e., one episode every 12.9 patient months (pt mo). Patients that had used the SCD for their entire CAPD experience had a significantly lower peritonitis rate (1/15.2 pt mo) compared to patients who had used other CAPD systems (1/10.1 pt mo). Peritonitis rates for diabetic study patients or patients with impaired vision and/or dexterity were not significantly greater than non-diabetic or non-impaired study patients. Staphylococcus epidermidis and Staphylococcus aureus were the most frequent causative microorganisms, accounting for 27.7% and 16.0% of peritonitis episodes caused by single organisms, respectively. The proportion of peritonitis caused by skin commensals was consistent across all study patients, regardless of impairment of vision and/or dexterity. The study results demonstrate the successful application of this patient assist device in a CAPD population that consisted of a large proportion of high risk patients.
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PMID:Peritonitis rates for CAPD patients using the SCD 210 (Inpersol sterile connecting device): a Canadian survey. 168 Apr 25

Insulin and tumor necrosis factor alpha (TNF alpha) produce potent and opposing physiological signals in adipocytes. However, genes that are co-regulated by the hormone and cytokine during and after adipocyte differentiation have not been characterized. Using 3T3-L1 cells, we have studied the regulation of the expression of genes encoding acyl-CoA synthetase (ACS), and stearoyl CoA desaturase-1 (SCD-1), two enzymes that play key roles in the metabolism of long chain fatty acids. Insulin is required for triggering the transcriptional activation of the ACS and SCD-1 genes at an early stage in adipocyte differentiation. In mature adipocytes insulin elicits a 4-fold increase in the rates of transcription of the two genes. However, when 3T3-L1 adipocytes are treated with TNF alpha the cytokine causes a 75-90% decrease in the levels of ACS and SCD-1 mRNAs. The decline in mRNA content is associated with similar decrements in the rates of transcription of the ACS and SCD-1 genes. Thus, the ACS and SCD-1 genes are subject to stimulation and counter-regulation (at the transcriptional level) by insulin and TNF alpha, respectively. The opposing effects of insulin and TNF alpha are observed in developing and terminally differentiated adipocytes. Unlike the ACS and SCD-1 genes, the genes that encode the lipogenic enzymes lipoprotein lipase and malic enzyme are not subject to counter-regulation by insulin and TNF alpha at the transcriptional level in 3T3-L1 adipocytes. These observations on the control of ACS and SCD-1 expression suggest possible mechanisms by which adipocytes can markedly adjust their capacity for long chain fatty acid metabolism in response to external stimuli.
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PMID:Regulation of gene expression by insulin and tumor necrosis factor alpha in 3T3-L1 cells. Modulation of the transcription of genes encoding acyl-CoA synthetase and stearoyl-CoA desaturase-1. 168 80

Anti-Siphon devices need a siphon length of about 25 cm H2O to activate them. SCD and ASD show a dependence on the prepressure. The subcutaneous pressure can obstruct Anti-Siphon devices.
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PMID:Therapeutic risks of anti-siphon devices. 180 91

Complete sequence-specific assignments of the 1H NMR spectrum of HPr protein from Staphylococcus aureus were obtained by two-dimensional NMR methods. Important secondary structure elements that can be derived from the observed nuclear Overhauser effects are a large antiparallel beta-pleated sheet consisting of four strands, A, B, C, D, a segment SAB consisting of an extended region around the active-center histidine (His-15) and an alpha-helix, a half-turn between strands B and C, a segment SCD which shows no typical secondary structure, and the alpha-helical, C-terminal segment S(term). These general structural features are similar to those found earlier in HPr proteins from different microorganisms such as Escherichia coli, Bacillus subtilis, and Streptococcus faecalis.
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PMID:Two-dimensional 1H NMR studies on HPr protein from Staphylococcus aureus: complete sequential assignments and secondary structure. 193 39

The neuromuscular blocking and respiratory depressing actions of the new insecticide sodium ammonium dimethyl-2-(propano-1,3-dithiosulfate) monohydrate (SCD) were investigated. In peroneal-tibialis anterior nerve-muscle preparations of urethane anesthetized rabbit, SCD 6.5 mg/kg iv completely depressed the indirectly elicited twitch tension but not the directly elicited one. This compound also caused initial potentiation of the indirectly elicited twitch tension. In the partially paralyzed preparations, potentiation of contractions occurred following a brief period of indirectly tetanic stimulation. Nereistoxin but not SCD blocked the indirectly elicited twitch tension of isolated rat diaphragm. The neuromuscular blockade induced by SCD and nereistoxin was antagonized by neostigmine and 4-aminopyridine. SCD and nereistoxin had little or no effect on arterial blood pressure and phrenic nerve discharge of rabbits. The results indicated that SCD-poisoned rabbits died of respiratory paralysis following the neuromuscular blockade.
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PMID:[Neuromuscular blocking and respiratory depressing actions of sodium ammonium dimethyl-2-(propano-1,3-dithiosulfate) monohydrate]. 196 89

Isolinoleic acid (18:2 delta 6,9) deuterated at 10 different positions was esterified to form 1-palmitoyl-2-isolinoleoyl-sn-glycero-3-phosphocholine (PiLPC), and the average structural and motional properties of the diunsaturated chain, in aqueous dispersions of PiLPC, were examined by 2H NMR spectroscopy. For each sample, 2H spectra were acquired over a temperature range of 1-40 degrees C and the quadrupolar splittings interpreted in terms of carbon-deuterium bond order parameters, SCD. Furthermore, definition of the average orientation of the C8 methylene unit with respect to the bilayer normal [Baenziger, J. E., Smith, I. C. P., Hill, R. J., & Jarrell, H. C. (1988) J. Am. Chem. Soc. 110, 8229-8231] provided sufficient information to calculate both the average orientations and the molecular order parameters, Smol (which reflects the amplitudes of motion), for the C6-C7 and the C9-C10 double bonds. The results indicate that both the motional freedom (reflected in the order profile) and the average structure (reflected in the orientation of carbon segments with respect to the bilayer normal) are strongly affected by the presence of two cis-unsaturated double bonds. The data were interpreted in terms of two possible models whereby, in each case, the chain adopts a conformation consistent with the low-energy conformation of 1,4-pentadiene [Applegate, K. R., & Glomset, J. A. (1986) J. Lipid Res. 27, 658-680] but undergoes a two-site jump between the conformations. The jump motion arises mainly from rotations about the C7-C8 and the C8-C9 single bonds that disorder the C8 and the C9-C10 segments (Smol = 0.15 and 0.08, respectively) but leave the C6-C7 double bond relatively immobile (Smol = 0.55; all at 40 degrees C). It is suggested that acyl chains containing three or more double bonds could not undergo a similar jump motion and therefore would be highly ordered and not "fluid" as is generally thought.
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PMID:Average structural and motional properties of a diunsaturated acyl chain in a lipid bilayer: effects of two cis-unsaturated double bonds. 198 84

The packing of hydrocarbon chains in the bilayers of lamellar (L alpha) phases of soap/water and phospholipid/water mixtures has been studied by deuterium NMR spectroscopy and X-ray diffraction. A universal correlation is shown to exist between the average C-D bond order parameter SCD of hydrocarbon chains and the average area per chain ach, irrespective of the chemical structure of the surfactant (hydrophilic group, number of chains per molecule, and chain length), composition, and temperature. The practical utility of the correlation is illustrated by its application to the characterization of the distribution of various hydrophobic and amphiphilic solutes in bilayers. The distribution of hydrocarbons within a bilayer is shown to depend upon their molecular structure in a manner which highlights the nature of the molecular interactions involved. For example, benzene is shown to be fairly uniformly distributed across the bilayer with an increasing tendency to distribute into the center at high concentrations. In contrast, the more complex hydrocarbon tetradecane preferentially distributes into the center of the bilayer at low concentrations, while at higher concentrations it intercalates between the surfactant chains. Alcohols such as benzyl alcohol, octanol, and decanol all interact similarly with the bilayer in so far as they are pinned to the polar/apolar interface, presumably by involvement of the hydroxyl group in a hydrogen bond. But the response of the surfactant chains to the void volume created in the center of the bilayer is dependent upon the distance of penetration of the alcohol into the bilayer. For benzyl alcohol, the shortest molecule, this void volume is taken up by the disordering of the chains, while for decanol, the longest molecule, it is absorbed by interdigitation of the chains of apposing monolayers. For octanol, the chain interdigitation mechanism is dominant at low concentrations, but there is a transition to chain disordering at high concentrations. Finally, it is shown that the correlation provides a useful test for statistical mechanical models of chain ordering in lipid bilayers.
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PMID:On the use of deuterium nuclear magnetic resonance as a probe of chain packing in lipid bilayers. 199 75

We describe a new method for the preparation of standardised therapeutic doses of leukocyte depleted platelets. The first step is to remove the buffy-coat from whole blood units drawn on triple Siamese ACD/SAGM bags (Maco-Pharma) by means of a Compomat (NPBI). The second step is to connect (SCD Haemonetics) six buffy-coats and one plasma to a special kit (Maco-Pharma) including a PALL PL 100 filter; after centrifugation, the supernatant platelet concentrate is extracted, filtered and recovered in a 2 litre TOTM PVC bag. The volume, the number of platelets and leukocytes of these pools are measured. A comparison of these parameters is made with therapeutic doses prepared in the same way without filtration. Besides, pH measurements up to the 6th day of storage and bacteriological checks are carried out. The results show: no platelet loss related to filtration; a synergy between the preparation process out of buffy-coats and the filtration: so each dose contains less than 10(6) leukocytes; a good pH level allowing the storage for five days as it is associated to the bacteriological safety of the functionally closed system. This technique makes it possible to transfuse only leukocyte depleted platelet concentrates. In addition, it offers new prospects for standardisation and quality improvement.
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PMID:[Preparation of leukocyte-depleted human platelet concentrates by centrifugation and filtration of a pool of sterilely connected buffy-coats]. 201 38


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