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  1. Book: Klinische Chemie und Hämatologie

    Dörner, Klaus / Deufel, Thomas

    2013  

    Title variant Taschenlehrbuch klinische Chemie und Hämatologie
    Author's details Klaus Dörner. Unter Mitarb. von T. Deufel
    Keywords Klinische Chemie ; Hämatologie
    Language German
    Size 689 S. : Ill., graph. Darst.
    Edition 8., überarb. Aufl.
    Publisher Thieme
    Publishing place Stuttgart u.a.
    Publishing country Germany
    Document type Book
    HBZ-ID HT017748514
    ISBN 978-3-13-129718-1 ; 3-13-129718-2 ; 9783131519283 ; 9783131677587 ; 3131519282 ; 3131677589
    Database Catalogue ZB MED Medicine, Health

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  2. Book: Klinische Chemie und Hämatologie

    Dörner, Klaus / Deufel, Thomas

    69 Tabellen

    2009  

    Title variant Taschenlehrbuch klinische Chemie und Hämatologie
    Author's details Klaus Dörner. Unter Mitarb. von T. Deufel
    Keywords Chemistry, Clinical ; Hematology ; Klinische Chemie ; Hämatologie
    Language German
    Size XXII, 632 S. : Ill., graph. Darst.
    Edition 7., vollst. überarb. Aufl.
    Publisher Thieme
    Publishing place Stuttgart u.a.
    Publishing country Germany
    Document type Book
    HBZ-ID HT015987701
    ISBN 978-3-13-129717-4 ; 3-13-129717-4
    Database Catalogue ZB MED Medicine, Health

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    2006 A 7087 order for loan Magazin
    2009 A 4948 order for loan Magazin

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  3. Book ; Thesis: Definition des Mutationsspektrums in seltenen hereditären Erkrankungen

    Jahić, Amir / Deufel, Thomas / Hübner, Christian / Clemen, Christoph Stephan

    2021  

    Institution Friedrich-Schiller-Universität Jena
    Author's details von Dr. med. Dr. med. univ. Amir Jahić
    Keywords Erbkrankheit ; Mutation
    Subject Genetische Krankheit ; Heredopathie ; Genetisch bedingte Krankheit ; Genetisches Syndrom ; Erbkrankheiten
    Language German
    Size circa 100 Seiten, Illustrationen, Diagramme, 30 cm
    Publishing place Jena
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Habilitationsschrift, Friedrich-Schiller-Universität Jena, 2021
    Note Kumulative Habilitationsschrift, enthält Zeitschriftenaufsätze. - Tag der Verteidigung: 17.06.2021
    HBZ-ID HT021156162
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
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  4. Book ; Thesis: Klinisch-biochemische Untersuchung zum Carnitinstoffwechsel des Menschen und zur Diagnostik von Carnitinmangel-Syndromen

    Deufel, Thomas

    1981  

    Size 90 S.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Muenchen, Univ., Diss., 1981
    HBZ-ID HT002624012
    Database Catalogue ZB MED Medicine, Health

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  5. Book: Klinische Chemie und Hämatologie

    Deufel, Thomas / Dörner, Klaus

    73 Tabellen

    (Taschenlehrbuch)

    2013  

    Title variant Taschenlehrbuch Klinische Chemie und Hämatologie
    Author's details Klaus Dörner. Unter Mitarb. von T. Deufel
    Series title Taschenlehrbuch
    Keywords Klinische Chemie ; Hämatologie
    Language German
    Size 689 S., Ill., graph. Darst., 19 cm
    Edition 8., überarb. Aufl.
    Publisher Thieme
    Publishing place Stuttgart u.a.
    Document type Book
    Note Literaturangaben S. 28
    ISBN 9783131297181 ; 9783131519283 ; 9783131677587 ; 3131297182 ; 3131519282 ; 3131677589
    Database Former special subject collection: coastal and deep sea fishing

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  6. Article: Workflow restrictions on hematology analyzers XE-2100 and XS-800 when assaying pediatric samples with limited volume.

    Böer, Klas / Deufel, Thomas

    Clinical chemistry and laboratory medicine

    2009  Volume 47, Issue 5, Page(s) 607–611

    Abstract: Background: Samples with limited volume is a common problem in laboratories receiving samples from pediatric patients. Also, pediatric samples may contain nucleated red blood cells (NRBC) which distorts the white blood cell (WBC) count and which can ... ...

    Abstract Background: Samples with limited volume is a common problem in laboratories receiving samples from pediatric patients. Also, pediatric samples may contain nucleated red blood cells (NRBC) which distorts the white blood cell (WBC) count and which can only be measured by some automated cell counting systems. Differential counts are sometimes required, posing the question of validity of flagging depending on age of the patients and on predilutions.
    Methods: We evaluated the hematology analyzers XE-2100 and XS-800 for their suitability in measuring hematological parameters in such samples.
    Results: With the exception of the MCHC and partly the MCH, we observed very good agreement between complete blood counts (CBC) in diluted and undiluted samples. Dilution did not impair sensitivity in the clinically relevant range nor, accuracy of the NRBC count on XE-2100. Flagging was ineffective in undiluted samples from children<1 year of age and in all diluted samples when measuring differential counts.
    Conclusions: In summary, while automated measurement of CBC and NRBC is possible in diluted samples, measurement of differential counts is restricted by loss of flagging efficiency. In addition, flagging is also ineffective in children<1 year of age using the analyzers evaluated and should, for diagnostic purposes, be performed manually.
    MeSH term(s) Blood Cell Count/instrumentation ; Blood Cell Count/methods ; Blood Cell Count/standards ; Child ; Humans ; Infant, Newborn ; Reproducibility of Results ; Specimen Handling/instrumentation ; Specimen Handling/methods ; Specimen Handling/standards
    Language English
    Publishing date 2009
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1418007-8
    ISSN 1437-4331 ; 1434-6621 ; 1437-8523
    ISSN (online) 1437-4331
    ISSN 1434-6621 ; 1437-8523
    DOI 10.1515/CCLM.2009.135
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 121: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  7. Article ; Online: Quantitation of serum free light chains does not compensate for serum immunofixation only when screening for monoclonal gammopathies.

    Böer, Klas / Deufel, Thomas

    Clinical chemistry and laboratory medicine

    2009  Volume 47, Issue 9, Page(s) 1109–1115

    Abstract: Background: Detection of plasma cell dyscrasias (PCD) requires screening of serum and urine for monoclonal proteins. Several studies have demonstrated increased sensitivity and specificity when measurement of serum free light chain (SFLC) is part of the ...

    Abstract Background: Detection of plasma cell dyscrasias (PCD) requires screening of serum and urine for monoclonal proteins. Several studies have demonstrated increased sensitivity and specificity when measurement of serum free light chain (SFLC) is part of the screening protocol. In addition, omission of immunofixation (IFE) in the standard work-up that includes SFLC assay has been proposed. This study attempts to define the role of the SFLC assay in a screening strategy limited to serum only. It compares outcomes to a serum-only screening strategy that omits serum IFE.
    Methods: Serum from 691 patients was analysed for the presence of monoclonal protein using standard serum IFE, serum protein electrophoresis (SPE) and measurement of SFLC. Data were analysed retrospectively.
    Results: Specificity and sensitivity of abnormal SFLC-ratios for the detection of monoclonal protein using IFE were 96% and 41%, respectively. Eighteen patients with negative monospecific and Bence Jones IFE, but abnormal SFLC-ratios were identified. In most cases, this could be attributed to kidney and inflammatory disease or haematological disorders. In four cases, this resulted in further diagnostic investigation and light chain disease was later detected in two cases. Light chain disease was confirmed in one case but not confirmed in the other patient. In 14 patients, Bence Jones IFE was negative, although the concentrations of SFLC suggested the presence of monoclonal Bence Jones protein at concentrations detectable by IFE. Thus, either the anti-serum failed at detection, there was polymerisation of the free light chains or the SFLC assay overestimated protein concentrations. Simulating a work-up that included IFE only if abnormalities were detected by SPE or the SFLC assay would have resulted in 26% fewer IFEs being performed, but three patients with monoclonal proteins by IFE would have been missed.
    Conclusions: Abnormal SFLC concentrations are neither sensitive nor specific for the detection of monoclonal proteins by IFE. Not all PCD are accompanied by excessive production of SFLC, and several other conditions, such as renal disease are associated with increased SFLC concentrations. An abnormal SFLC-ratio is a specific marker for PCD, and occurs primarily in patients with haematological disease. If renal and inflammatory diseases are excluded, this should prompt further diagnostic investigation. Screening of serum without performing an IFE as a standard procedure leads to a reduction of sensitivity when compared to screening of serum that includes IFE.
    MeSH term(s) Aged ; Bence Jones Protein/analysis ; Female ; Humans ; Immunoglobulin kappa-Chains/analysis ; Immunoglobulin kappa-Chains/blood ; Immunoglobulin kappa-Chains/urine ; Immunoglobulin lambda-Chains/analysis ; Immunoglobulin lambda-Chains/blood ; Immunoglobulin lambda-Chains/urine ; Male ; Middle Aged ; Paraproteinemias/diagnosis ; Sensitivity and Specificity
    Chemical Substances Immunoglobulin kappa-Chains ; Immunoglobulin lambda-Chains ; Bence Jones Protein (9006-99-9)
    Language English
    Publishing date 2009
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1418007-8
    ISSN 1437-4331 ; 1434-6621 ; 1437-8523
    ISSN (online) 1437-4331
    ISSN 1434-6621 ; 1437-8523
    DOI 10.1515/CCLM.2009.254
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 121: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  8. Article ; Online: A polymorphic Alu insertion that mediates distinct disease-associated deletions.

    Jahic, Amir / Erichsen, Anne K / Deufel, Thomas / Tallaksen, Chantal M / Beetz, Christian

    European journal of human genetics : EJHG

    2016  Volume 24, Issue 9, Page(s) 1371–1374

    Abstract: Large deletions that are associated with insertions of Alu-derived sequence represent a rare, but potentially unique class of alterations. Whether they form by a one-step mechanism or by a primary insertion step followed by an independent secondary ... ...

    Abstract Large deletions that are associated with insertions of Alu-derived sequence represent a rare, but potentially unique class of alterations. Whether they form by a one-step mechanism or by a primary insertion step followed by an independent secondary deletion step is not clear. We resolved two disease-associated SPAST deletions, which involve distinct exons by long range PCR. Alu-derived sequence was observed between the breakpoints in both cases. The intronic regions that represent the targets of potentially involved Alu retrotransposition events overlapped. Microsatellite- and SNP-based haplotyping indicated that both deletions originated on one and the same founder allele. Our data suggest that the deletions are best explained by two-step insertion-deletion scenarios for which a single Alu retrotransposition event represents the shared primary step. This Alu then mediated one of the deletions by non-homologous end joining and the other by non-allelic homologous recombination. Our findings thus strongly argue for temporal separation of insertion and deletion in Alu insertion-associated deletions. They also suggest that certain Alu integrations confer a general increase in local genomic instability, and that this explains why they are usually not detected during the probably short time that precedes the rearrangements they mediate.
    MeSH term(s) Adenosine Triphosphatases/genetics ; Alleles ; Alu Elements/genetics ; Chromosome Breakpoints ; Exons ; Gene Deletion ; Homologous Recombination ; Humans ; Mutagenesis, Insertional ; Paraplegia/diagnosis ; Paraplegia/genetics ; Polymorphism, Genetic ; Spastic Paraplegia, Hereditary/diagnosis ; Spastic Paraplegia, Hereditary/genetics ; Spastin
    Chemical Substances Adenosine Triphosphatases (EC 3.6.1.-) ; Spastin (EC 3.6.4.3) ; SPAST protein, human (EC 5.6.1.1)
    Language English
    Publishing date 2016-03-02
    Publishing country England
    Document type Journal Article
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2016.20
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3589: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  9. Article ; Online ; Conference proceedings: Putting science to work: novel diagnostic strategies in laboratory medicine.

    Deufel, Thomas / Kiehntopf, Michael

    Expert review of molecular diagnostics

    2006  Volume 6, Issue 1, Page(s) 9–14

    MeSH term(s) Animals ; Biological Specimen Banks ; Biomedical Research/trends ; Clinical Laboratory Techniques/methods ; Clinical Laboratory Techniques/trends ; Diagnostic Techniques and Procedures/trends ; Gene Expression Profiling ; Genome/genetics ; Germany ; Humans ; Molecular Diagnostic Techniques/methods ; Molecular Diagnostic Techniques/trends ; Pharmacokinetics ; Proteome/analysis ; Proteome/genetics
    Chemical Substances Proteome
    Language English
    Publishing date 2006-01
    Publishing country England
    Document type Congresses
    ZDB-ID 2112530-2
    ISSN 1744-8352 ; 1473-7159
    ISSN (online) 1744-8352
    ISSN 1473-7159
    DOI 10.1586/14737159.6.1.9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6073: Show issues Location:
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  10. Book: Klinische Chemie und Hämatologie

    Deufel, Thomas / Dörner, Klaus / Dörner, Renate / Haschke-Becher, Elisabeth / Heppner, Hans Jürgen

    (Taschenlehrbuch)

    2013  

    Title variant Taschenlehrbuch Klinische Chemie und Hämatologie
    Author's details Klaus Dörner ; unter Mitarbeit von T. Deufel, R. Dörner, E. Haschke-Becher, H. J. Heppner [und 8 andere]
    Series title Taschenlehrbuch
    Keywords Klinische Chemie ; Hämatologie
    Language German
    Size 689 Seiten, 192 Illustrationen, Diagramme, 19 cm
    Edition 8., überarbeitete Auflage
    Publisher Georg Thieme Verlag
    Publishing place Stuttgart ; New York
    Document type Book
    Note "73 Tabellen" -Titelblatt ; Literaturangaben: Seite 28
    ISBN 9783131297181 ; 9783131519283 ; 9783131677587 ; 3131297182 ; 3131519282 ; 3131677589
    Database Federal Institute for Risk Assessment

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