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Conference proceedings: Eine quantitative Analyse zur Veränderung der Ansprechbarkeit der Beckenbodenmuskulatur während der Phasen der Menstruation

Hauser, Friederike / Soeder, Sonja

2023 , Page(s) 34

Event/congress	34. Kongress der Deutschen Kontinenz Gesellschaft; Leipzig; Deutsche Kontinenz Gesellschaft e.V.; 2023
Keywords	Medizin, Gesundheit
Publishing date	2023-10-31
Publisher	German Medical Science GMS Publishing House; Düsseldorf
Document type	Conference proceedings
DOI	10.3205/23dkg34
Database	German Medical Science

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Article ; Online: Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?

Häuser, Friederike / Rossmann, Heidi / Adenaeuer, Anke / Shrestha, Annette / Marandiuc, Dana / Paret, Claudia / Faber, Jörg / Lackner, Karl J / Lämmle, Bernhard / Beck, Olaf

International journal of molecular sciences

2023 Volume 24, Issue 23

Abstract: Congenital defects of the erythrocyte membrane are common in northern Europe and all over the world. The resulting diseases, for example, hereditary spherocytosis (HS), are often underdiagnosed, partly due to their sometimes mild and asymptomatic courses. ...

Abstract	Congenital defects of the erythrocyte membrane are common in northern Europe and all over the world. The resulting diseases, for example, hereditary spherocytosis (HS), are often underdiagnosed, partly due to their sometimes mild and asymptomatic courses. In addition to a broad clinical spectrum, this is also due to the occasionally complex diagnostics that are not available to every patient. To test whether next-generation sequencing (NGS) could replace time-consuming spherocytosis-specific functional tests, 22 consecutive patients with suspected red cell membranopathy underwent functional blood tests. We were able to identify the causative genetic defect in all patients with suspected HS who underwent genetic testing (
MeSH term(s)	Humans ; Child ; Ankyrins/genetics ; Ankyrins/metabolism ; Mutation ; Spherocytosis, Hereditary/diagnosis ; Spherocytosis, Hereditary/genetics ; Spectrin/genetics ; Spectrin/metabolism ; Cytoskeletal Proteins/genetics ; High-Throughput Nucleotide Sequencing
Chemical Substances	Ankyrins ; Spectrin (12634-43-4) ; Cytoskeletal Proteins
Language	English
Publishing date	2023-11-30
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms242317021
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Article ; Online: One fits all: a highly sensitive combined ddPCR/pyrosequencing system for the quantification of microchimerism after hematopoietic and solid organ transplantation.

Häuser, Friederike / Mittler, Jens / Hantal, Misra Simge / Greulich, Lilli / Hermanns, Martina / Shrestha, Annette / Kriege, Oliver / Falter, Tanja / Immel, Uta D / Herold, Stephanie / Schuch, Brigitte / Lackner, Karl J / Rossmann, Heidi / Radsak, Markus

Clinical chemistry and laboratory medicine

2023 Volume 61, Issue 11, Page(s) 1994–2001

Abstract: Objectives: A combined digital droplet PCR (ddPCR)/pyrosequencing assay system was developed that demonstrated advantages applicable to multiple qualitative and quantitative molecular genetic diagnostic applications. Data for characterizing this ... ...

Abstract	Objectives: A combined digital droplet PCR (ddPCR)/pyrosequencing assay system was developed that demonstrated advantages applicable to multiple qualitative and quantitative molecular genetic diagnostic applications. Data for characterizing this combined approach for hematologic stem cell transplantation (HSCT) and allele quantification from graft-derived cell-free (cf) DNA in solid organ transplantation (SOT) is presented. Methods: ddPCR and pyrosequencing assays targeting 32 SNPs/markers were established. ddPCR results from 72 gDNAs of 55 patients after allogeneic HSCT and 107 plasma-cfDNAs of 25 liver transplant recipients were compared with established methods/markers, i.e. short-tandem-repeat PCR and ALT, respectively. Results: The ddPCR results were in good agreement with the established marker. The limit of detection was 0.02 % minor allele fraction. The relationship between ddPCR and STR-PCR was linear with R Conclusions: Combining pyrosequencing for genotyping and ddPCR for minor allele quantification enhances sensitivity and precision for the patient after HSCT and SOT. The assay is designed for maximum flexibility. It is expected to be suitable for other applications (sample tracking, prenatal diagnostics, etc.).
MeSH term(s)	Humans ; Chimerism ; Transplantation Chimera/genetics ; Organ Transplantation ; Polymerase Chain Reaction/methods ; Hematopoietic Stem Cell Transplantation ; DNA/genetics ; High-Throughput Nucleotide Sequencing
Chemical Substances	DNA (9007-49-2)
Language	English
Publishing date	2023-05-11
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-2023-0198
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Book ; Online ; Thesis: Die funktionelle Bedeutung von MSP und Lactadherin im Rahmen der Atherosklerose

Häuser, Friederike [Verfasser]

2011

Author's details	Friederike Häuser
Keywords	Biowissenschaften, Biologie ; Life Science, Biology
Subject code	sg570
Language	German
Publisher	Universitätsbibliothek Mainz
Publishing place	Mainz
Document type	Book ; Online ; Thesis
Database	Digital theses on the web

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Article ; Online: A novel von Willebrand factor multimer ratio as marker of disease activity in thrombotic thrombocytopenic purpura.

Falter, Tanja / Rossmann, Heidi / de Waele, Laure / Dekimpe, Charlotte / von Auer, Charis / Müller-Calleja, Nadine / Häuser, Friederike / Degreif, Adriana / Marandiuc, Dana / Messmer, Xavier / Sprinzl, Martin / Lackner, Karl J / Jurk, Kerstin / Vanhoorelbeke, Karen / Lämmle, Bernhard

Blood advances

2023 Volume 7, Issue 17, Page(s) 5091–5102

Abstract: Immune-mediated thrombotic thrombocytopenic purpura (iTTP), an autoantibody-mediated severe ADAMTS13 deficiency, is caused by insufficient proteolytic processing of von Willebrand factor (VWF) multimers (MMs) and microvascular thrombi. Recurrence of ... ...

Abstract	Immune-mediated thrombotic thrombocytopenic purpura (iTTP), an autoantibody-mediated severe ADAMTS13 deficiency, is caused by insufficient proteolytic processing of von Willebrand factor (VWF) multimers (MMs) and microvascular thrombi. Recurrence of acute iTTP is associated with persistence or reappearance of ADAMTS13 deficiency. Some patients remain in remission despite recurring or persisting severe ADAMTS13 deficiency. In a prospective 2-year observational study, we investigated VWF MM patterns and ADAMTS13 in patients with iTTP in remission and at acute episodes. Of the 83 patients with iTTP, 16 suffered 22 acute episodes whereas 67 remained in clinical remission during follow-up, including 13 with ADAMTS13 <10% and 54 with ADAMTS13 ≥10%. High -molecular weight to low-molecular weight VWF MM ratio based on sodium dodecyl sulfate-agarose gel electrophoresis was compared with ADAMTS13 activity. VWF MM ratio was significantly higher in patients in remission with <10% compared with ≥10% ADAMTS13 activity. Fourteen samples obtained from 13 to 50 days (interquartile range; median, 39) before acute iTTP onset (ADAMTS13 <10% in 9 patients and 10%-26% in 5) showed VWF MM ratios significantly higher than those from 13 patients remaining in remission with ADAMTS13 <10%. At acute iTTP onset, VWF MM ratio decreased significantly and was low in all patients despite <10% ADAMTS13. The VWF MM ratio does not depend exclusively on ADAMTS13 activity. The disappearance of high molecular weight VWF MMs resulting in low VWF MM ratio at iTTP onset may be explained by consumption of larger VWF MMs in the microcirculation. The very high VWF MM ratio preceding acute iTTP recurrence suggests that VWF processing is hampered more than in patients remaining in remission.
MeSH term(s)	Humans ; Purpura, Thrombotic Thrombocytopenic/diagnosis ; von Willebrand Factor/analysis ; Prospective Studies ; von Willebrand Diseases ; ADAMTS13 Protein
Chemical Substances	von Willebrand Factor ; ADAMTS13 Protein (EC 3.4.24.87)
Language	English
Publishing date	2023-06-20
Publishing country	United States
Document type	Observational Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2915908-8
ISSN	2473-9537 ; 2473-9529
ISSN (online)	2473-9537
ISSN	2473-9529
DOI	10.1182/bloodadvances.2023010028
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Article ; Online: Novel

Jurk, Kerstin / Adenaeuer, Anke / Sollfrank, Stefanie / Groß, Kathrin / Häuser, Friederike / Czwalinna, Andreas / Erkel, Josef / Fritsch, Nele / Marandiuc, Dana / Schaller, Martin / Lackner, Karl J / Rossmann, Heidi / Bergmann, Frauke

Cells

2022 Volume 11, Issue 19

Abstract: Germline defects in the transcription factor GATA1 are known to cause dyserythropoiesis with(out) anemia and variable abnormalities in platelet count and function. However, damaging variants closely located to the C-terminal zinc finger domain of GATA1 ... ...

Abstract	Germline defects in the transcription factor GATA1 are known to cause dyserythropoiesis with(out) anemia and variable abnormalities in platelet count and function. However, damaging variants closely located to the C-terminal zinc finger domain of GATA1 are nearly unknown. In this study, a 36-year-old male index patient and his 4-year-old daughter suffered from moderate mucocutaneous bleeding diathesis since birth. Whole exome sequencing detected a novel hemizygous
MeSH term(s)	Anemia ; Anion Exchange Protein 1, Erythrocyte ; GATA1 Transcription Factor/genetics ; Hemorrhage/genetics ; Humans ; Male ; Phenotype ; Platelet Storage Pool Deficiency
Chemical Substances	Anion Exchange Protein 1, Erythrocyte ; GATA1 Transcription Factor ; GATA1 protein, human ; SLC4A1 protein, human
Language	English
Publishing date	2022-09-29
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells11193071
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Article ; Online: Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence.

Adenaeuer, Anke / Barco, Stefano / Trinchero, Alice / Krutmann, Sarah / Nazir, Hanan Fawzy / Ambaglio, Chiara / Rocco, Vincenzo / Pancione, Ylenia / Tomao, Luigi / Ruiz-Sáez, Arlette / Echenagucia, Marion / Alesci, Sonja / Sollfrank, Stefanie / Ezigbo, Eyiuche D / Häuser, Friederike / Lackner, Karl J / Lämmle, Bernhard / Rossmann, Heidi

Journal of thrombosis and haemostasis : JTH

2022 Volume 21, Issue 2, Page(s) 237–254

Abstract: Background: Severe high-molecular-weight kininogen (HK) deficiency is a poorly studied autosomal recessive contact system defect caused by pathogenic, biallelic KNG1 variants.: Aim: We performed the first comprehensive analysis of diagnostic, ... ...

Abstract	Background: Severe high-molecular-weight kininogen (HK) deficiency is a poorly studied autosomal recessive contact system defect caused by pathogenic, biallelic KNG1 variants. Aim: We performed the first comprehensive analysis of diagnostic, clinical, genetic, and epidemiological aspects of HK deficiency. Methods: We collected clinical information and blood samples from a newly detected HK-deficient individual and from published cases identified by a systematic literature review. Activity and antigen levels of coagulation factors were determined. Genetic analyses of KNG1 and KLKB1 were performed by Sanger sequencing. The frequency of HK deficiency was estimated considering truncating KNG1 variants from GnomAD. Results: We identified 48 cases of severe HK deficiency (41 families), of these 47 have been previously published (n = 19 from gray literature). We genotyped 3 cases and critically appraised 10 studies with genetic data. Ten HK deficiency-causing variants (one new) were identified. All of them were truncating mutations, whereas the only known HK amino acid substitution with a relevant phenotype instead causes hereditary angioedema. Conservative estimates suggest an overall prevalence of severe HK deficiency of approximately one case per 8 million population, slightly higher in Africans. Individuals with HK deficiency appeared asymptomatic and had decreased levels of prekallikrein and factor XI, which could lead to misdiagnosis. Conclusion: HK deficiency is a rare condition with only few known pathogenic variants. It has an apparently good prognosis but is prone to misdiagnosis. Our understanding of its clinical implications is still limited, and an international prekallikrein and HK deficiency registry is being established to fill this knowledge gap.
MeSH term(s)	Kininogen, High-Molecular-Weight/genetics ; Kininogen, High-Molecular-Weight/metabolism ; Prekallikrein/genetics ; Prekallikrein/metabolism ; Prevalence ; Blood Coagulation Factors
Chemical Substances	Kininogen, High-Molecular-Weight ; Prekallikrein (9055-02-1) ; Blood Coagulation Factors
Language	English
Publishing date	2022-12-22
Publishing country	England
Document type	Systematic Review ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2112661-6
ISSN	1538-7836 ; 1538-7933
ISSN (online)	1538-7836
ISSN	1538-7933
DOI	10.1016/j.jtha.2022.11.011
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Article ; Online: Platelet Activation by Antiphospholipid Antibodies Depends on Epitope Specificity and is Prevented by mTOR Inhibitors.

Hollerbach, Anne / Müller-Calleja, Nadine / Ritter, Svenja / Häuser, Friederike / Canisius, Antje / Orning, Carolin / Jurk, Kerstin / Lackner, Karl J

Thrombosis and haemostasis

2019 Volume 119, Issue 7, Page(s) 1147–1153

Abstract: Antiphospholipid antibodies (aPL) have been reported to activate platelets. This is considered to be one of the pathogenic properties of aPL. Even though aPL heterogeneity is quite well established, little is known, if the ability to activate platelets ... ...

Abstract	Antiphospholipid antibodies (aPL) have been reported to activate platelets. This is considered to be one of the pathogenic properties of aPL. Even though aPL heterogeneity is quite well established, little is known, if the ability to activate platelets is common to all aPL or depends on antigen specificity. To further study this issue, we analyzed the ability of three human monoclonal aPL with distinctly different antigenic specificities to activate platelets in vitro. The results obtained with human monoclonal aPL were validated with immunoglobulin G (IgG) fractions obtained from patients with antiphospholipid syndrome (APS). A co-factor-independent human monoclonal anticardiolipin aPL had no discernible effect on human platelets. Two monoclonal aPL reactive against β2 glycoprotein I (β2GPI) induced platelet aggregation, integrin αIIbβ3 activation and P-selectin surface expression. These data could be confirmed with patient IgG fractions which could only induce aggregation, if they had anti-β2GPI activity. Anti-β2GPI aPL-induced platelet activation depended on interaction of aPL with the low affinity Fcγ-receptor IIa on the platelet surface. It was completely abolished by pretreatment of platelet-rich plasma with the mechanistic target of rapamycin (mTOR) inhibitors rapamycin or everolimus. This extends previous data showing that mTOR is involved in signaling of anti-β2GPI in monocytes and endothelial cells. In conclusion, anti-β2GPI aPL activate platelets while co-factor-independent anticardiolipin aPL have no effect. mTOR is involved in this signaling process which has implications beyond APS, because so far the role of mTOR signaling in platelets is incompletely explored and requires further study.
MeSH term(s)	Antibodies, Antiphospholipid/metabolism ; Antiphospholipid Syndrome/drug therapy ; Antiphospholipid Syndrome/immunology ; Autoantibodies/metabolism ; Blood Platelets/physiology ; Cells, Cultured ; Epitopes/metabolism ; Epitopes, B-Lymphocyte/metabolism ; Everolimus/pharmacology ; Everolimus/therapeutic use ; Humans ; Platelet Aggregation/drug effects ; Platelet Glycoprotein GPIIb-IIIa Complex/metabolism ; Signal Transduction ; Sirolimus/pharmacology ; Sirolimus/therapeutic use ; TOR Serine-Threonine Kinases/antagonists & inhibitors ; beta 2-Glycoprotein I/immunology
Chemical Substances	Antibodies, Antiphospholipid ; Autoantibodies ; Epitopes ; Epitopes, B-Lymphocyte ; Platelet Glycoprotein GPIIb-IIIa Complex ; beta 2-Glycoprotein I ; Everolimus (9HW64Q8G6G) ; TOR Serine-Threonine Kinases (EC 2.7.1.1) ; Sirolimus (W36ZG6FT64)
Language	English
Publishing date	2019-04-24
Publishing country	Germany
Document type	Journal Article
ZDB-ID	518294-3
ISSN	2567-689X ; 0340-6245
ISSN (online)	2567-689X
ISSN	0340-6245
DOI	10.1055/s-0039-1685453
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Uh III Zs.192: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Evaluation of a laboratory-based high-throughput SARS-CoV-2 antigen assay for non-COVID-19 patient screening at hospital admission.

Häuser, Friederike / Sprinzl, Martin F / Dreis, Kim J / Renzaho, Angelique / Youhanen, Simon / Kremer, Wolfgang M / Podlech, Jürgen / Galle, Peter R / Lackner, Karl J / Rossmann, Heidi / Lemmermann, Niels A

Medical microbiology and immunology

2021 Volume 210, Issue 2-3, Page(s) 165–171

Abstract: Several rapid antigen tests (RATs) for the detection of SARS-CoV-2 were evaluated recently. However, reliable performance data for laboratory-based, high-throughput antigen tests are lacking. Therefore and in response to a short-term shortage of PCR ... ...

Abstract	Several rapid antigen tests (RATs) for the detection of SARS-CoV-2 were evaluated recently. However, reliable performance data for laboratory-based, high-throughput antigen tests are lacking. Therefore and in response to a short-term shortage of PCR reagents, we evaluated DiaSorin's LIAISON SARS-CoV-2 antigen test in comparison to RT-qPCR, and concerning the application of screening non-COVID-19 patients on hospital admission. Applying the manufacturer-recommended cut-off of 200 arbitrary units (AU/mL) the specificity of the LIAISON Test was 100%, the overall analytical sensitivity 40.2%. Lowering the cut-off to 100 AU/mL increased the sensitivity to 49.7% and decreased the specificity to 98.3%. Confining the analysis to samples with an RT-qPCR result < 25 Ct resulted in a sensitivity of 91.2%. The quality of the LIAISON test is very similar to that of good RATs described in the literature with the advantage of high throughput and the disadvantage of relatively long analysis time. It passes the WHO quality criteria for rapid antigen tests and is characterized by particularly high specificity. The LIAISON test can therefore be used for the same applications as recommended for RATs by the WHO. Due to limited sensitivity, the LIAISON test should only be used for screening, if PCR-based assays are not available.
MeSH term(s)	Antigens, Viral/analysis ; Asymptomatic Infections ; COVID-19/diagnosis ; COVID-19 Nucleic Acid Testing ; COVID-19 Serological Testing/standards ; Germany ; Hospitals ; Humans ; Mass Screening ; Reverse Transcriptase Polymerase Chain Reaction ; Sensitivity and Specificity
Chemical Substances	Antigens, Viral
Language	English
Publishing date	2021-04-15
Publishing country	Germany
Document type	Journal Article
ZDB-ID	120933-4
ISSN	1432-1831 ; 0300-8584
ISSN (online)	1432-1831
ISSN	0300-8584
DOI	10.1007/s00430-021-00706-5
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Article ; Online: Hepatitis E virus genotype 3 is a common finding in liver-transplanted patients undergoing liver biopsy for elevated liver enzymes with a low De Ritis ratio and suspected acute rejection: A real-world cohort.

Darstein, Felix / Häuser, Friederike / Straub, Beate K / Wenzel, Jürgen J / Conradi, Roland / Mittler, Jens / Lang, Hauke / Galle, Peter R / Zimmermann, Tim

Clinical transplantation

2018 Volume 32, Issue 11, Page(s) e13411

Abstract: Background: Hepatitis E virus (HEV) infection is a potential reason for elevated liver enzymes after liver transplantation (LT). Our aim was to analyze a real-world cohort of LT patients, who underwent liver biopsy for elevated transaminases and ... ...

Abstract	Background: Hepatitis E virus (HEV) infection is a potential reason for elevated liver enzymes after liver transplantation (LT). Our aim was to analyze a real-world cohort of LT patients, who underwent liver biopsy for elevated transaminases and suspected acute rejection, to evaluate frequency of post-transplant HEV infection. Patients: Data from 160 liver biopsies were analyzed. Seventy-one patients were biopsied on schedule after LT without elevated liver enzymes. A subgroup of 25 patients with elevated liver enzymes and suspected rejection was chosen for further analysis. Patient demographics and data were retrieved from a clinical database, patients' charts, and reports. Results: Hepatitis E virus infection was diagnosed in five of 25 patients with suspected acute rejection (20%). HEV genotype 3 was detected in three of the five HEV-infected patients. Patients with HEV infection showed higher ALT levels (P = 0.014), lower De Ritis ratio (P = 0.021), and more frequent glucocorticoid therapy (P = 0.012) compared to HEV-negative patients. Conclusion: We found a rate of 20% HEV infections in LT patients undergoing liver biopsy for elevated liver enzymes and suspected acute rejection. These data indicate the necessity for HEV testing in all LT patients with elevated liver enzymes and suspected acute rejection.
MeSH term(s)	Adult ; Aged ; Alanine Transaminase/blood ; Aspartate Aminotransferases/blood ; Biomarkers/blood ; Biopsy ; Female ; Follow-Up Studies ; Genotype ; Graft Rejection/blood ; Graft Rejection/diagnosis ; Graft Rejection/enzymology ; Graft Rejection/etiology ; Graft Survival ; Hepatitis E/blood ; Hepatitis E/diagnosis ; Hepatitis E/enzymology ; Hepatitis E/etiology ; Hepatitis E virus/genetics ; Hepatitis E virus/isolation & purification ; Humans ; Liver Diseases/surgery ; Liver Transplantation/adverse effects ; Male ; Middle Aged ; Postoperative Complications ; Prognosis ; Prospective Studies ; Risk Factors
Chemical Substances	Biomarkers ; Aspartate Aminotransferases (EC 2.6.1.1) ; Alanine Transaminase (EC 2.6.1.2)
Language	English
Publishing date	2018-10-27
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	639001-8
ISSN	1399-0012 ; 0902-0063
ISSN (online)	1399-0012
ISSN	0902-0063
DOI	10.1111/ctr.13411
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