| 1. |
- Theodorsson, Elvar, 1953-, et al.
(författare)
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Röda blodkroppar - erytrocyter
- 2003. - 9
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Ingår i: Laurells Klinisk kemi i Praktisk Medicin. - Lund : Studentlitteratur. - 9789144047874 - 9144007663 ; , s. 161-214
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Klinisk kemi i praktisk medicin används som kurslitteratur för läkare, biomedicinska analytiker och biomedicinare sedan 40 år tillbaka. Den finns på avdelningar, mottagningar och vårdcentraler - överallt där man behöver ta prover för kliniskt kemiska analyser och tolka deras resultat. Nu föreligger den i sin nionde upplaga efter omfattande revision och med nyskrivna kapitel. I denna upplaga har innehållet organiserats med tydlig anknytning till kliniska problemområden. Alla kapitel har grundligt reviderats. Avsnitten om tolkning av analysresultat, allergi och autoimmunitet, hjärtinfarkt och hjärtskademarkörer, digestionsorganens sjukdomar, graviditet, infertilitet och prenataldiagnostik samt läkemedel, förgiftningar och missbruk är helt nyskrivna. Boken kan användas både för att slå upp fakta om specifika analyser och för att förstå de sjukdomsmekanismer som är av betydelse för tolkningen av laboratorieresultat. Modern medicinsk praxis är patientcentrerad och har sitt fundament i ett nära samspel mellan klinik, laboratorier och patienter. Kunskapsfragment inom klinisk kemi är lättillgängliga för alla och envar på nätet, men ger sällan den helhetsbild som behövs för grundlig förståelse och därmed optimal användning av laboratorieanalyser. Denna bok ger sådan helhetsbild
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| 2. |
- Bento, Celeste, et al.
(författare)
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Genetic Basis of Congenital Erythrocytosis : Mutation Update and Online Databases
- 2014
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Ingår i: Human Mutation. - : Wiley-Blackwell. - 1059-7794 .- 1098-1004. ; 35:1, s. 15-26
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Tidskriftsartikel (refereegranskat)abstract
- Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels. Primary congenital familial erythrocytosis is associated with low erythropoietin (Epo) levels and results from mutations in the Epo receptor gene (EPOR). Secondary CE arises from conditions causing tissue hypoxia and results in increased Epo production. These include hemoglobin variants with increased affinity for oxygen (HBB, HBA mutations), decreased production of 2,3-bisphosphoglycerate due to BPGM mutations, or mutations in the genes involved in the hypoxia sensing pathway (VHL, EPAS1, and EGLN1). Depending on the affected gene, CE can be inherited either in an autosomal dominant or recessive mode, with sporadic cases arising de novo. Despite recent important discoveries in the molecular pathogenesis of CE, the molecular causes remain to be identified in about 70% of the patients. With the objective of collecting all the published and unpublished cases of CE the COST action MPN&MPNr-Euronet developed a comprehensive Internet-based database focusing on the registration of clinical history, hematological, biochemical, and molecular data (http://www.erythrocytosis.org/). In addition, unreported mutations are also curated in the corresponding Leiden Open Variation Database.
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| 3. |
- Gravholt, Claus Højbjerg, et al.
(författare)
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Clinical and epidemiological description of aortic dissection in Turner's syndrome.
- 2006
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Ingår i: Cardiology in the young. - 1047-9511. ; 16:5, s. 430-6
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Women with Turner's syndrome have an increased risk of congenital cardiac malformations, ischaemic heart disease, hypertension and stroke. Aortic dissection seems to occur with increased frequency. AIM: To describe in more detail aortic dissection as encountered in Turner's syndrome, giving attention to clinical, histological and epidemiological aspects. MATERIALS AND METHODS: Based on a retrospective study, we describe the clinical, karyotypic, and epidemiological aspects of aortic dissection as encountered in cases of Turner's syndrome seen in Denmark and Sweden. RESULTS: The median age at onset of aortic dissection in 18 women was 35 years, ranging from 18 to 61 years. Fourteen of 18 women had a 45,X karyotype, while 2 patients had 45,X/45,XY, and 2 had the 45,X/46,X+r(X) complement, respectively. Echocardiography was performed in 10 of 18 patients before their acute illness, and showed signs of congenital cardiac disease, with either bifoliate aortic valves, dilation of the aortic root, or previous aortic coarctation evident in most patients. In 5 patients evidence of a bifoliate aortic valve was conclusive. Hypertension was present in 5 of 18 patients, while 10 of the patients died from aortic dissection, of so-called type A in 6, type B in 3, while in the final case the origin of dissection could not be determined. Biochemical analysis showed altered ratio between type I and type III collagen. Histology showed cystic medial necrosis in 3 of 7 cases. We estimated an incidence of dissection of 36 per 100,000 Turner's syndrome years, compared with an incidence of 6 per 100,000 in the general population, and a cumulated rate of incidence of 14, 73, 78, and 50 per 100,000 among 0-19, 20-29, 30-39, and 40+ year olds, respectively. CONCLUSION: Aortic dissection is extremely common in the setting of Turner's syndrome, and occurs early in life. Patients with Turner's syndrome should be offered a protocol for clinical follow-up similar to that provided for patients with Marfan syndrome, and each clinic should embrace a programme for follow-up.
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| 4. |
- Jendle, Johan, 1963-, et al.
(författare)
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När HbA1c inte stämmer : Olika metoder kan ge olika resultat – och ibland kan även resultat som stämmer överens ge fel bild av glukosbalansen
- 2020
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Ingår i: Läkartidningen. - : Läkartidningen Förlag AB. - 0023-7205 .- 1652-7518. ; 117:37
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Forskningsöversikt (refereegranskat)abstract
- Compared to the 1990s when HbA1c was established as a marker for glycemic control, the accuracy of the HbA1c assays has greatly improved and HbA1c is currently used also for the diagnosis of type 2 diabetes. For most patients, the agreement is excellent between glycemic status and HbA1c results achieved by various methods. However, for patients with increased erythrocyte turnover, HbA1c does not reflect the glycemic status. For patients with rare haemoglobin variants the HbA1c value might be falsely decreased or increased, depending on which HbA1c assay has been used. Recently, falsely increased HbA1c results due to aspirin interference in an ion-exchange method were reported. When misleading results are suspected comparison of results from different HbA1c methods using different analytical principles or continuous glucose monitoring might be useful. HbA1c is likely to remain the most important marker for glycemic control, but complementary tests have to be established.
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| 5. |
- Landin, Britta, et al.
(författare)
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A role for hepatic lipase in chylomicron and high density lipoprotein phospholipid metabolism
- 1984
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Ingår i: Journal of Lipid Research. - 0022-2275. ; 25:6, s. 63-559
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Tidskriftsartikel (refereegranskat)abstract
- The rate of removal of phosphatidylethanolamine and phosphatidylcholine from the plasma of rats treated with antiserum to hepatic lipase was measured. The hepatic lipase antiserum was injected intravenously into animals prior to injection of 32P-labeled chylomicrons or 32P-labeled high density lipoproteins. In experiments in which 32P-labeled chylomicrons were injected, antiserum treatment inhibited removal of [32P]phosphatidylethanolamine from chylomicrons, and the unlabeled serum phosphatidylethanolamine levels increased 2-2.5-fold in 30 min. In contrast, hepatic lipase antiserum had no significant effect on the clearance of chylomicron [32P]phosphatidylcholine or on unlabeled phosphatidylcholine concentrations in serum after injection of chylomicrons. In experiments in which 32P-labeled high density lipoproteins were injected, the inhibitory effect of the antiserum on the rapid removal of [32P]phosphatidylethanolamine from the circulation was even more marked than its effect on the removal from chylomicrons. The removal of high density lipoprotein phosphatidylcholine on the other hand was unaffected by the antiserum, although a moderate increase in serum phosphatidylcholine concentration was seen. In antiserum-treated rats injected with 32P-labeled chylomicrons or high density lipoproteins, hepatic [32P]phosphatidylethanolamine radioactivity was decreased. Significantly more [32P]phosphatidylethanolamine was recovered from blood plus liver in the antiserum-treated rats, indicating that the antiserum inhibited the overall degradation of injected [32P]phosphatidylethanolamine. The data suggest that phosphatidylethanolamine is a preferred substrate for hepatic lipase in the metabolism of chylomicron and high density lipoprotein phospholipid.
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| 6. |
- Landin, Britta, et al.
(författare)
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Factors affecting the impaired uptake of chylomicron remnants in the cholestatic rat
- 1987
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Ingår i: Scandinavian Journal of Gastroenterology. - : Informa UK Limited. - 1502-7708 .- 0036-5521. ; 22:2, s. 225-232
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Tidskriftsartikel (refereegranskat)abstract
- We have previously shown that bile duct ligation inhibits the hepatic uptake of chylomicron remnants in rats. In the present study we have investigated different possible causes of this inhibition. Intravenous infusion of bile or sodium taurocholate reduced the hepatic chylomicron remnant uptake. Perfused livers from bile duct-ligated rats metabolized chylomicron remnants at a reduced rate. Rat hepatocyte monolayer cultures metabolized remnants formed in cholestatic rats and those formed in hepatectomized animals equally well, but serum from cholestatic rats inhibited remnant uptake more strongly than control serum. Bile duct ligation did not influence the clearance from plasma of human low-density lipoprotein, and the inhibition of hepatic remnant uptake was not affected by treatment of cholestatic rats with ethinylestradiol. The clearance of 125I-labeled asialofetuin was only slightly impaired by cholestasis, indicating that no strong inhibition of all endocytic processes of the hepatocytes occurred. The reduced hepatic uptake of chylomicron remnants in the cholestatic rat is thus not due to formation of abnormal remnant particles. An increased plasma bile acid concentration rapidly reduced the hepatic remnant uptake without causing any significant hyperlipidemia. However, the pathological lipoproteins accumulating in the cholestatic rat aggravated the hepatic uptake defect even further.
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| 7. |
- Malm, Linus, 1980-, et al.
(författare)
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Metabolomic Quality Assessment of EDTA Plasma and Serum Samples
- 2016
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Ingår i: Biopreservation and Biobanking. - : Mary Ann Liebert Inc. - 1947-5535 .- 1947-5543. ; 14:5, s. 416-423
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Tidskriftsartikel (refereegranskat)abstract
- Handling and processing of blood can significantly alter the molecular composition and consistency of biobank samples and can have a major impact on the identification of biomarkers. It is thus crucial to identify tools to determine the quality of samples to be used in biomarker discovery studies. In this study, a non-targeted gas chromatography/time-of-flight mass spectrometry (GC-TOFMS) metabolomic strategy was used with the aim of identifying quality markers for serum and plasma biobank collections lacking proper documentation of preanalytical handling. The effect of postcentrifugation delay was examined in serum stored in tubes with gel separation plugs and ethylenediaminetetraacetic acid (EDTA) plasma in tubes with or without gel separation plugs. The change in metabolic pattern was negligible in all sample types processed within 3 hours after centrifugation regardless of whether the samples were kept at 4 degrees C or 22 degrees C. After 8 and 24 hours postcentrifugation delay before aliquoting, there was a pronounced increase in the number of affected metabolites, as well as in the magnitude of the observed changes. No protective effect on the metabolites was observed in gel-separated EDTA plasma samples. In a separate series of experiments, lactate and glucose levels were determined in plasma to estimate the effect of precentrifugation delay. This separate experiment indicates that the lactate to glucose ratio may serve as a marker to identify samples with delayed time to centrifugation. Although our data from the untargeted GC-TOFMS analysis did not identify any specific markers, we conclude that plasma and serum metabolic profiles remain quite stable when plasma and serum are centrifuged and separated from the blood cells within 3 hours.
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| 8. |
- Nilsson, Åke, et al.
(författare)
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Absorption and lymphatic transport of exogenous and endogenous arachidonic and linoleic acid in the rat
- 1987
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Ingår i: American Journal of Physiology: Gastrointestinal and Liver Physiology. - 1522-1547. ; 252:6, s. 817-824
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Tidskriftsartikel (refereegranskat)abstract
- [3H]Arachidonic (20:4) and [14C]linoleic acid (18:2) were fed to thoracic duct-cannulated rats in test meals of either tracers alone, cream, Intralipid, pure arachidonic acid, or pure linoleic acid. Less [3H]20:4 than [14C]18:2 was recovered in chyle during the first 5 h. After cream feeding, the proportion of radioactivity found in phospholipids was high and increased during the first 3 h. After the meal (3-5 h) 61 +/- 6% of the 3H and 57 +/- 10% of the 14C was in phosphatidylcholine, and 11 +/- 3% of the 3H and 3.0 +/- 4% of the 14C was in phosphatidylethanolamine. Changing the fat vehicle to Intralipid or pure 18:2 decreased the proportion of label in the phospholipids and increased the 3H and 14C radioactivity in the triacylglycerol fraction, the distribution of 14C being influenced more than that of 3H. After feeding the tracers in 200 microliters of pure 20:4, greater than 90% of both isotopes was in triacylglycerol. During fasting, triacylglycerol transported 56% (0.7 mumol/h), phosphatidylcholine transported 34% (0.4 mumol/h), and phosphatidylethanolamine transported 10% (0.1 mumol/h) of the 20:4 mass. After cream or Intralipid feeding, the output of 20:4-containing phosphatidylcholine and phosphatidylethanolamine increased 2.1- to 2.8-fold, whereas the transport of 20:4 with triacylglycerol remained constant. Phospholipids thus became the predominant transport form for 20:4. After feeding 200 microliters of 20:4, the intestine produced, however, 20:4-rich triacylglycerols that transported 89% of the chyle 20:4
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| 9. |
- Nilsson, Åke, et al.
(författare)
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Hydrolysis och chylomicron arachidonate and linoleate ester bonds by lipoprotein lipase and heaptic lipase
- 1987
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Ingår i: Journal of Lipid Research. - 1539-7262. ; 28:5, s. 510-517
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Tidskriftsartikel (refereegranskat)abstract
- Chylomicrons labeled with [3H]arachidonic and [14C]linoleic acid were incubated with bovine milk lipoprotein lipase or rat postheparin plasma, containing both lipoprotein lipase and hepatic lipase. During incubation with bovine lipoprotein lipase, [3H]arachidonic acid was released from chylomicron triacylglycerols at a slower rate than [14C]linoleic acid. Only small amounts of [14C]linoleic acid were found as 1,2(2,3)-diacylglycerols, whereas a transient accumulation as [14C]monoacylglycerols was observed. In contrast, significantly more [3H]arachidonic acid was found as 1,2(2,3)-diacylglycerols than as monoacylglycerols at all time intervals investigated. The initial pattern of triacylglycerol hydrolysis by postheparin plasma was similar to that of bovine lipoprotein lipase. However, in contrast to the results obtained with bovine lipoprotein lipase, little [3H]1,2(2,3)-diacylglycerol accumulated. The addition of antiserum to hepatic lipase increased the amount of 3H found in 1,2(2,3)-diacylglycerols and inhibited the formation of free [3H]arachidonic acid. The antiserum also caused a significant inhibition of the hydrolysis of [3H]-but not of [14C]triacylglycerol. With regard to chylomicron phospholipids, the rate of hydrolysis of [14C]linoleoyl phosphatidylcholine with milk lipoprotein lipase was twofold higher than that of the [3H]arachidonyl phosphatidylcholine. However, the hepatic lipase of postheparin plasma had similar activity towards the two phosphatidylcholine species. Postheparin plasma rapidly hydrolyzed chylomicron 3H-labeled and 14C-labeled phosphatidylethanolamine to the same degree, and lipoprotein lipase similarly hydrolyzed 3H-labeled and 14C-labeled phosphatidylethanolamine at approximately equal rates. Antiserum to hepatic lipase inhibited the postheparin plasma hydrolysis of phosphatidylethanolamine and 3H-labeled phosphatidylcholine by about 60%, but the 14C-labeled phosphatidylcholine by only 27%.(ABSTRACT TRUNCATED AT 250 WORDS).
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| 10. |
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| 11. |
- Theodorsson, Elvar, et al.
(författare)
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Anemier
- 2012. - 9
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Ingår i: Laurells Klinisk kemi i praktisk medicin. - Lund. - 9789144047874 ; , s. 211-264
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Klinisk kemi i praktisk medicin används som kurslitteratur för läkare, biomedicinska analytiker och biomedicinare sedan 40 år tillbaka. Den finns på avdelningar, mottagningar och vårdcentraler - överallt där man behöver ta prover för kliniskt kemiska analyser och tolka deras resultat. Nu föreligger den i sin nionde upplaga efter omfattande revision och med nyskrivna kapitel. I denna upplaga har innehållet organiserats med tydlig anknytning till kliniska problemområden. Alla kapitel har grundligt reviderats. Avsnitten om tolkning av analysresultat, allergi och autoimmunitet, hjärtinfarkt och hjärtskademarkörer, digestionsorganens sjukdomar, graviditet, infertilitet och prenataldiagnostik samt läkemedel, förgiftningar och missbruk är helt nyskrivna. Boken kan användas både för att slå upp fakta om specifika analyser och för att förstå de sjukdomsmekanismer som är av betydelse för tolkningen av laboratorieresultat. Modern medicinsk praxis är patientcentrerad och har sitt fundament i ett nära samspel mellan klinik, laboratorier och patienter. Kunskapsfragment inom klinisk kemi är lättillgängliga för alla och envar på nätet, men ger sällan den helhetsbild som behövs för grundlig förståelse och därmed optimal användning av laboratorieanalyser. Denna bok ger sådan helhetsbild.
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| 12. |
- Theodorsson, Elvar, et al.
(författare)
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Anemier
- 2012. - 9
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Ingår i: Laurells klinisk kemi i praktisk medicin. - Lund : Studentlitteratur. - 9789144047874 ; , s. 211-280
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Bokkapitel (refereegranskat)
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