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)

In a case of suspected homicide death due to natural causes--cardiac death (SCD)--was found at autopsy. Despite an extensive replacement of myocardial tissue by sarcoid granulomata there was no history of cardiac dysfunction or preceding symptoms. The transmurally infiltrating granulomata and the concomitant fibrosis were predominantly confluent. They occupied vast areas within the interventricular septum and the adjacent posterior wall of the left ventricle. The only other organs involved were mediastinal lymph nodes, which appeared macroscopically normal.
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PMID:Sudden death due to cardiac sarcoidosis in a case of suspected homicide. 821 72

Despite recent therapeutic advances, SCD remains the leading cause of mortality in industralized nations. The most frequent cause of SCD is ventricular tachyarrhythmias in the setting of advanced structural heart disease due to chronic coronary heart disease or idiopathic dilated cardiomyopathy. Although high-risk groups can be prospectively identified, attempts at primary prevention have been largely unsuccessful. Effective treatment strategies for SCD survivors include antiarrhythmic drug therapy guided by programmed stimulation, endocardial resection, and ICDs. Device therapy has proven extremely effective in preventing recurrent sudden death from ventricular tachyarrhythmias. Widespread application of ICD therapy, perhaps even to include members of high-risk populations that have not experienced cardiac arrest, will depend on many factors including the demonstration that device therapy improves total mortality, not just arrhythmia-related mortality, reduction in cost, and improvements in the devices themselves. Some of the important characteristics of the optimal ICD of the future are nonthoracotomy lead placement; subpectoral generator placement; multiprogrammable, tiered therapy; improved diagnostic specificity, whether based on electrogram or hemodynamic-sensing algorithms; improved integration of brady- and tachy-sensing systems; and enhanced electrogram storage capability with trans-telephonic retrieval of electrogram recordings. The creation of this ideal ICD will obviously require continued technological advances; however, given the tremendous improvements realized over the first three generations of ICD systems, optimism for the future seems warranted.
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PMID:Future developments in implantable cardioverter defibrillators: the optimal device. 823 76

The effect of riboflavin supplementation (5mg twice daily for 8 weeks) on reduced blood glutathione (GSH) and iron status was assessed in 18 patients with sickle cell disease (SCD-HbSS). Twelve SCD patients and 13 normal (Hb-AA) subjects served as the control. The total iron binding capacity (TIBC) and serum ferritin (SF) were significantly higher (p < 0.01), but GSH level, haemoglobin and transferrin saturation (TS) were significantly lower (p < 0.001) in SCD patients than in normal subjects. The administration of riboflavin elicited a significant increase (p < 0.01) in serum iron and TS but a non significant increase in SF and circulating Hb. The GSH level varied little in riboflavin supplemented but decreased significantly in unsupplemented SCD. The disparity in GSH concentration might reflect availability of FAD for regeneration of GSH from glutathione. Likewise, the haematological improvement in the supplemented group supports the assertion that riboflavin enhances erythropoiesis. For an effective management of SCD in Africa, a closer attention should be directed to the riboflavin status in haemolytic disorders.
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PMID:Clinical trial of riboflavin in sickle cell disease. 829

During the last two decades compelling evidence has been provided for the existence of a tight relation between brain activation of unbalanced autonomic function and arrhythmias ending in SCD. Insular and infralimbic cortex exert direct and indirect effects on hypothalamus and other brain stem nuclei in modulating cardiac sympathetic-parasympathetic interactions. Specifically, sympathetic hyperactivity favors the onset of life-threatening cardiac arrhythmias, whereas vagal activation usually exerts relatively protective and antifibrillatory effects. Epileptic activation of cortical brain sites can turn this system on and probably is responsible partially for the increased incidence of unexpected death in this patient population. The role of environmental stress in arrhythmogenesis and SCD is of great importance in the outcome of heart disease.
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PMID:Sudden death. A neurocardiologic phenomenon. 831 87

Values of area per lipid A ranging from 56 to 72 A 2 have been reported from essentially the same SCD data from DPPC in the L alpha phase. The differences are due primarily to three separate binary choices in interpretation. It is argued that one particular combination is best; this yields A = 62 +/- 2 A 2 for DPPC at 50 degrees C. Each preceding interpretation agrees with at least one of the three present choices and disagrees with at least one.
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PMID:Area/lipid of bilayers from NMR. 832 84

Fifteen S/S children with severe SCD were transplanted with marrow from HLA identical siblings. All developed frequent (> 3/y) vaso-occlusive crises (VOC) associated with recurrent acute chest syndrome episodes (n = 10), osteitis (n = 3), osteonecrosis (n = 3), strokes (n = 3) or frequent massive deglobulisation (n = 2). Two children undergone splenectomy, two were chelated and two had an erythroid allo-immunization. Ethnic origins were from various countries in Africa (n = 11), North-Africa (n = 3) or West Indies (n = 1). At BMT, they were 2y 3m to 14y 9m old (mean: 8y 7m). Donors were AS (n = 11) or AA (n = 4). At first, various conditioning regimens were used consisting of busulfan (BU) plus Cyclophosphamide (CY) at different doses: CY:200 mg/kg (n = 13) or 260 mg/kg (n = 2); BU: 14 mg/kg (n = 1), 16 mg/kg (n = 9), > 16 mg/kg (n = 5); one patient received also TLI and the last two anti-thymoglobulin (ATG): 20 mg/kg. GVHD prophylaxis was CSA alone (n = 4) or CSA plus short-term MTX (n = 11). Median follow-up is 28 months (5 m to 53 m). All patients had an engraftment (d12 to d32) with a stable total chimerism in 10/14 patients. In the 4 others, partial chimerism was observed: one patient had a early and progressive rejection of his graft but is doing very well (35 m follow-up) without any manifestation of SCD, with a high stable 22% Hb F level.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Treatment of severe forms of sickle cell anemia with bone marrow allograft: French experience (15 cases). SFGM]. 833 53

Fourteen S/S children with severe SCD were transplanted with marrow from HLA identical siblings. All developed frequent (> 4/y) vasoocclusive crises (VOC) and recurrent acute chest syndrome episodes (n:10), osteitis (n:3), osteonecrosis (n:3), strokes (n:3) or frequent massive deglobulisation (n:2). Two children undergone splenectomy, 2 were chelated and 2 had erythroid allo-immunization. Ethnic origins were from various countries in Africa (n:10), North-Africa (n:3) or West Indies (n:1). At BMT, they were 2y 3m to 14y 9m old (mean:8y 7m). Donors were AS (n:11) or AA (n:3). At first, various conditioning regimens were used consisting of busulfan (BU) plus Cyclophosphamide (CY) at different doses: CY:200 mg/kg (n:12) or 260 mg/kg (n:2); BU:14 mg/kg (n:1), 16 mg/kg (n:9), > 16 mg/kg (n:4); 1 patient received also TLI and one other antithymoglobulin (ATG): 20 mg/kg. GVHD prophylaxis was CSA alone (n:4) or CSA plus short-term MTX (n:10). Median follow-up was 23 months (8 m. to 48 m.). All patients had an engraftment (d13 to d32) with a stable total chimerism in 10/14 patients who are cured. In the 4 others, partial chimerism was observed: one patient had a early and progressive rejection of his graft but is doing very well (28 m. follow-up) without any manifestation of SCD, with a high stable 22% Hb F level. One patient developed an aplastic anaemia 15 m after BMT: a second BMT was achieved 21 m after the first one with engraftment and total chimerism. Two patients have a relatively stable partial chimerism with still undergoing CSA therapy (11 m. and 23 m. follow-up).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Bone marrow transplantation (BMT) in 14 children with severe sickle cell disease (SCD): the French experience. GEGMO. 837 51

The glycosphingolipid, galactosyl ceramide (GalCer), was studied by 2H nuclear magnetic resonance (NMR) in fluid phospholipid bilayer membranes, with regard to arrangement of its acyl chain. For this purpose, species with perdeuterated 18-carbon fatty acid (18:0[d35]GalCer) or with perdeuterated 24-carbon fatty acid (24:0[d47] GalCer) were dispersed in bilayers of the 18-carbon phospholipid, 1-stearoyl-2-oleoyl-phosphatidylcholine (SOPC). For 18:0[d35] GalCer, smoothed profiles of the order parameter, SCD, were found to be very similar to one another over the range of glycolipid concentration, 5-40 mol%. In addition, they were very similar to orientational order parameter profiles well known from the literature on phospholipid and glycolipid acyl chains (which deals in general with membranes of homogeneous chain length in the range 14-18 carbons). Corresponding order parameter profiles for the long-chain species, 24:0[d47] GalCer, were also similar to one another for glycolipid concentrations between 5 and 40 mol%. Their shapes, however, were distinctly different from those of the shorter chain analogues. SCD profiles for the two species were quantitatively similar to a membrane depth of C15. SCD values at C16 and C17 were approximately 20 and 30%, respectively, higher for the long-chain glycosphingolipid than for its short-chain analogue in SOPC. Nitroxide spin labels attached rigidly to C16 of the long-chain glycolipid in SOPC gave electron paramagnetic resonance (EPR) order parameters that were twice as high as for a spin label at C16 on the shorter chain glycolipid. Comparison was made between spectra of 24:0[d47] GalCer in SOPC and fully hydrated bilayers of the pure 24:0[d47] GalCer, a system that is considered to be partially interdigitated in fluid and gel phases. The resultant 2H NMR order parameter profiles displayed similar features, indicating that related organizational properties exist in these fluid systems. Effective chain length of 24:0[d47] GalCer within the SOPC membrane was calculated using the method of Schindler and Seelig (1975. Biochemistry, 14:2283-2287). The result suggested that the long-chain fatty acid should protrude roughly one third of the host matrix chain length across the bilayer midplane. However, a treatment of the same order parameters making very few assumptions about chain conformation indicated a high degree of orientational flexibility for the "extra" length of the long chain fatty acid. It seems likely that a realistic treatment of the long-chain fatty acidin a shorter chain fluid host matrix considers interdigitation as a subset of the conformational possibilities, many of which are rapidly interconverting on the NMR timescale of 10-4_10-5 s and longer lived on the EPR timescale of 10-8_10-9 s.
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PMID:Glycosphingolipid acyl chain orientational order in unsaturated phosphatidylcholine bilayers. 847 18

In the multiple-dose bleomycin-hamster model of pulmonary fibrosis, combined treatment with taurine and niacin blocks the increase in lung collagen deposition. We investigated the effects of taurine and niacin on lung lysyl oxidase and type I collagenase activities in this model. Hamsters were intratracheally instilled with three weekly doses of saline or bleomycin sulfate. Animals were fed either a diet containing 2.5% niacin and 2.5% taurine, or a control diet throughout the experiment. The four groups were saline-instilled with the control diet (BCD), bleomycin-instilled with the diet containing taurine and niacin (BTN), and saline-instilled with the diet containing taurine and niacin (STN). Animals were sacrificed at 1, 4, and 8 weeks after the last bleomycin instillation. Hydroxyproline per lung in the BCD group was significantly elevated by 38, 56, and 60% over the SCD group at 1, 4, and 8 weeks, respectively. Lysyl oxidase activity per lung in the BCD group was significantly elevated by 57.5 and 91.4% over the SCD controls at 1 and 4 week time periods, respectively. Type I collagenase activity per lung in the BCD group was significantly elevated by 65 and 80% over the SCD controls at 1 and 4 weeks, respectively. The combined treatment with taurine and niacin abolished the bleomycin-induced increases in the lung hydroxyproline content and lysyl oxidase and collagenase activities. It was postulated that one of the mechanisms for the antifibrotic effect of taurine and niacin may be the blockage of bleomycin-induced increases in the lung lysyl oxidase and collagenase activities.
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PMID:Mechanism of antifibrotic effect of taurine and niacin in the multidose bleomycin-hamster model of lung fibrosis: inhibition of lysyl oxidase and collagenase. 856 34

Most probably common in emergency departments, but still not well studied in this context, the disorders formerly called "hysteria" are now included in the group "Somatization, undifferentiated somatoform, conversion and dissociative disorders" (SSCD disorders) DSM IV. Their common presentation is that of idiopathic somatic symptoms linked with mental disorders. In the emergency department these symptoms confront physicians who generally do not have extensive psychiatric training. The symptoms occur, and disappear, undetermined by the patients, who are genuinely ill and not malingering. Aside from the somatisation disorder, which by definition is chronic, invalidating and rare, the other disorders (SCD) can: be contingent on the picture of another acute, easily recognisable mental disorder; or, on the other hand, be highly reactional and transient; or constitute the "somatic presentation" of an anxious disorder, the panic attack, well known in somatic emergencies. Management is based on diagnostic considerations and by the difficulties of the patient to accept a psychic cause of the symptoms whereas he is experiencing an organic disorder. The possibilities of discussing such psychogenesis in the context of the emergency department are slight, and the best course is often to adopt a pragmatic and prudent medical approach. An essential point is respect of the patient and his ideas. The legal provision, which already exists, for the presence of psychiatrists in emergency departments should lead to physician-psychiatrist cooperation that would be beneficial for these patients.
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PMID:[Hysterical emergencies]. 857 51


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