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  1. Book ; Thesis: Vergleich verschiedener protektiver Maßnahmen im akuten ischämischen Nierenversagen

    Butzeck, Barbara M.

    experimentelle Untersuchungen an der Ratte

    1988  

    Author's details vorgelegt von Barbara Marianne Butzeck
    Size 62 Bl. : Ill., graph. Darst.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Bochum, Univ., Diss., 1989
    HBZ-ID HT003424273
    Database Catalogue ZB MED Medicine, Health

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  2. Article: Analysis of Natural Killer cell functions in patients with hereditary hemochromatosis.

    Bönnemann, Vivian / Claus, Maren / Butzeck, Barbara / Collette, Daniela / Bröde, Peter / Golka, Klaus / Watzl, Carsten

    EXCLI journal

    2020  Volume 19, Page(s) 430–441

    Abstract: Hereditary hemochromatosis (HH) is an autosomal-recessive disorder of the iron metabolism. Patients are typically affected by dysregulated iron levels, which can lead to iron accumulation within essential organs, such as liver, heart and pancreas. ... ...

    Abstract Hereditary hemochromatosis (HH) is an autosomal-recessive disorder of the iron metabolism. Patients are typically affected by dysregulated iron levels, which can lead to iron accumulation within essential organs, such as liver, heart and pancreas. Furthermore, many HH patients are also afflicted by several immune defects and increased occurrence of autoimmune diseases that are linked to human homeostatic iron regulator protein (HFE) in the immune response. Here we examined immune cell phenotype and function in 21 HH patients compared to 21 healthy controls with a focus on Natural Killer (NK) cells. We observed increased basal and stimulated production of pro-inflammatory cytokines such as IL-1β or IL-18 in HH patients compared to healthy controls. However, we did not find major changes in the phenotype, the amount or the cytotoxic function of NK cells in HH patients. Instead, our data show a general decrease in the total number of granulocytes in HH patients (2774 ± 958 per μl versus 3457 ± 1122 per μl in healthy controls). These data demonstrate that NK cells of HH patients are not significantly affected and that the patients' treatment by regular phlebotomy is sufficient to avoid systemic iron overload and its consequences to the immune system.
    Language English
    Publishing date 2020-03-25
    Publishing country Germany
    Document type Journal Article
    ISSN 1611-2156
    ISSN 1611-2156
    DOI 10.17179/excli2020-1116
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Haemochromatosis patients' research priorities: Towards an improved quality of life.

    Romero-Cortadellas, Lídia / Venturi, Veronica / Martín-Sánchez, Juan Carlos / Toska, Ketil / Prince, Dianne / Butzeck, Barbara / Porto, Graça / Milman, Nils Thorm / Committee, Hi/Efaph Survey / Sánchez, Mayka

    Health expectations : an international journal of public participation in health care and health policy

    2023  Volume 26, Issue 6, Page(s) 2293–2301

    Abstract: Background: Chronic diseases are associated with a range of functional and psychosocial consequences that can adversely affect patients' quality of life (QoL). Haemochromatosis (HC) is a genetically heterogeneous disorder characterized by chronic iron ... ...

    Abstract Background: Chronic diseases are associated with a range of functional and psychosocial consequences that can adversely affect patients' quality of life (QoL). Haemochromatosis (HC) is a genetically heterogeneous disorder characterized by chronic iron overload that can ultimately lead to multiple organ dysfunction. Clinical diagnosis remains challenging due to the nonspecificity of symptoms and a lack of confirmatory genotyping in a substantial proportion of patients. Illness perception among HC patients has not been extensively investigated, lacking relevant information on how to improve their QoL.
    Methods: We present the results of the first worldwide survey conducted in nearly 1500 HC respondents, in which we collected essential demographic information and identified the aspects that concern HC patients the most.
    Results: Out of all the participants, 45.3% (n = 676) voiced their concern about physical and psychological consequences such as HC-related arthropathies, which can ultimately affect their social functioning. A similar proportion of patients (n = 635, 42.5%) also consider that better-informed doctors are key for improved HC disease management. Taking a patient-centred approach, we expose differences in patients' disease perspective by social and economic influences.
    Conclusions: We identify potential targets to improve patients' health-related QoL and reflect on strategic measures to foster gender equity in access to health resources. Finally, we make a call for a highly coordinated effort across a range of public policy areas to empower participants in the HC research process and design.
    Patient or public contribution: Nearly 1500 patients with hereditary HC responded to an anonymized online survey in which research and clinical priorities were addressed regarding this chronic and rare disease.
    MeSH term(s) Humans ; Quality of Life/psychology ; Hemochromatosis/genetics ; Hemochromatosis/therapy ; Surveys and Questionnaires ; Research
    Language English
    Publishing date 2023-07-28
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2119434-8
    ISSN 1369-7625 ; 1369-6513
    ISSN (online) 1369-7625
    ISSN 1369-6513
    DOI 10.1111/hex.13830
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Conference proceedings: Hämochromatose – eine wichtige, selten frühzeitig gestellte Differentialdiagnose in der Allgemeinmedizin

    Golka, Klaus / Collette, Daniela / Müller, Jill Imogen / Claus, Maren / Niedner, Hartmut / Römer, Hermann Caspar / Butzeck, Barbara

    2021  , Page(s) P–01–03

    Event/congress 55. Kongress für Allgemeinmedizin und Familienmedizin; Lübeck; Deutsche Gesellschaft für Allgemeinmedizin und Familienmedizin; 2021
    Keywords Medizin, Gesundheit
    Publishing date 2021-09-17
    Publisher German Medical Science GMS Publishing House; Düsseldorf
    Document type Conference proceedings
    DOI 10.3205/21degam179
    Database German Medical Science

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  5. Article ; Online: Diagnosis of hereditary hemochromatosis in the era of genetic testing.

    Trieß, Christiane / von Figura, Guido / Stuhrmann, Manfred / Butzeck, Barbara / Krayenbuehl, Pierre A / Strnad, Pavel / Kulaksiz, Hasan

    Digestive diseases and sciences

    2012  Volume 57, Issue 11, Page(s) 2988–2994

    Abstract: Background: Homozygous C282Y mutation in HFE gene is responsible for the majority of hereditary hemochromatosis cases. Since 1996 this mutation can be identified by a simple genetic test.: Aims: To determine the clinical presentations in patients ... ...

    Abstract Background: Homozygous C282Y mutation in HFE gene is responsible for the majority of hereditary hemochromatosis cases. Since 1996 this mutation can be identified by a simple genetic test.
    Aims: To determine the clinical presentations in patients with homozygous HFE C282Y mutation and the impact of genetic testing on the time needed for diagnosis.
    Methods: A total of 414 patients diagnosed with C282Y homozygous hereditary hemochromatosis before and after the introduction of genetic testing were evaluated regarding symptoms and clinical findings at diagnosis as well as first hemochromatosis-related clinical features in their past medical history.
    Results: At the time of diagnosis, the predominant symptom was joint pain, in particular of the hands/wrists. Those patients presenting with hand/wrist arthralgia had significantly higher ferritin levels than patients without this joint involvement (p = 0.0005 for males and p < 0.0001 for females). After the introduction of the HFE genetic test an earlier diagnosis after first onset of hemochromatosis-associated clinical features was observed between 2006 and 2009 vs. 2000-2005 p = 0.01).
    Conclusions: Arthralgia, in particular of the hands/wrists, is a hallmark of hereditary hemochromatosis and its presence is associated with higher ferritin levels. Despite the availability of a genetic test, it often takes more than 6 years from the first onset of clinical features to diagnose hereditary hemochromatosis. This underlines the importance of raising the awareness of hemochromatosis and its typical clinical presentations.
    MeSH term(s) Adult ; Comorbidity ; Female ; Genetic Testing/methods ; Hemochromatosis/diagnosis ; Hemochromatosis/genetics ; Histocompatibility Antigens Class I/genetics ; Homozygote ; Humans ; Male ; Middle Aged ; Mutation ; Retrospective Studies ; Statistics, Nonparametric ; Time Factors
    Chemical Substances Histocompatibility Antigens Class I
    Language English
    Publishing date 2012-06-07
    Publishing country United States
    Document type Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 304250-9
    ISSN 1573-2568 ; 0163-2116
    ISSN (online) 1573-2568
    ISSN 0163-2116
    DOI 10.1007/s10620-012-2243-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Book ; Thesis: Vergleich verschiedener protektiver Massnahmen im akuten ischämischen Nierenversagen

    Butzeck, Barbara Marianne

    experimentelle Untersuchungen an der Ratte

    1988  

    Author's details Barbara Marianne Butzeck
    Language Undetermined
    Size 62 Bl, Ill., graph. Darst, 30 cm
    Document type Book ; Thesis
    Thesis / German Habilitation thesis @Bochum, Univ., Diss. : 1988
    Database Former special subject collection: coastal and deep sea fishing

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  7. Article ; Online: The importance of the general practitioner as an information source for patients with hereditary haemochromatosis.

    Teixeira, Emerência / Borlido-Santos, Júlio / Brissot, Pierre / Butzeck, Barbara / Courtois, Françoise / Evans, Robert W / Fernau, Janet / Nunes, João Arriscado / Mullett, Margaret / Paneque, Milena / Pineau, Brigitte / Porto, Graça / Sorrill, Robert / Sanchez, Mayka / Swinkels, Dorine W / Toska, Ketil / Varkonyi, Judit

    Patient education and counseling

    2014  Volume 96, Issue 1, Page(s) 86–92

    Abstract: Objective: To explore hereditary haemochromatosis (HH) patients' perspectives on genetic information, namely the types of sources used, preferred or trusted.: Methods: A survey online was conducted by the European Federation of Associations of ... ...

    Abstract Objective: To explore hereditary haemochromatosis (HH) patients' perspectives on genetic information, namely the types of sources used, preferred or trusted.
    Methods: A survey online was conducted by the European Federation of Associations of Patients with Haemochromatosis (EFAPH) and applied to members of nine National Associations.
    Results: From a total of 1019 validated questionnaires, 895 respondents had performed a genetic testing for HH. From these, 627 self-declared that they were sufficiently informed about the implications of the genetic test to their health. The majority (66%) obtained the information from a specialist doctor, but would like to obtain it from the family doctor. However, the specialist was still the one they trusted more (69%). Regarding the 298 respondents who did not feel sufficiently informed, the majority (78%) also would like to have information from the family doctor although they also trusted the specialist more (75%). A different perspective was reported when patients were asked about the implications of the genetic testing to their family members, where the majority of respondents preferred obtaining information from a specialist (69%).
    Conclusion: This study elucidates the patients' needs for information and identifies the general practitioner (GP) as the preferred source to obtain information about HH.
    Practice implications: These results may have important implications in future strategies for HH awareness, giving a special emphasis on GPs as the main players.
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Communication ; Female ; General Practitioners ; Genetic Testing ; Health Knowledge, Attitudes, Practice ; Hemochromatosis/diagnosis ; Hemochromatosis/genetics ; Humans ; Information Seeking Behavior ; Internet ; Male ; Middle Aged ; Patient Education as Topic ; Surveys and Questionnaires ; Young Adult
    Language English
    Publishing date 2014-07
    Publishing country Ireland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 605590-4
    ISSN 1873-5134 ; 0738-3991
    ISSN (online) 1873-5134
    ISSN 0738-3991
    DOI 10.1016/j.pec.2014.04.017
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype.

    Adams, Paul / Altes, Albert / Brissot, Pierre / Butzeck, Barbara / Cabantchik, Ioav / Cançado, Rodolfo / Distante, Sonia / Evans, Patricia / Evans, Robert / Ganz, Tomas / Girelli, Domenico / Hultcrantz, Rolf / McLaren, Gordon / Marris, Ben / Milman, Nils / Nemeth, Elizabeta / Nielsen, Peter / Pineau, Brigitte / Piperno, Alberto /
    Porto, Graça / Prince, Dianne / Ryan, John / Sanchez, Mayka / Santos, Paulo / Swinkels, Dorine / Teixeira, Emerência / Toska, Ketil / Vanclooster, Annick / White, Desley

    Hepatology international

    2018  Volume 12, Issue 2, Page(s) 83–86

    Abstract: Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of ... ...

    Abstract Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. This final version was approved at the Hemochromatosis International meeting on 12th May 2017 in Los Angeles.
    MeSH term(s) Female ; Humans ; Male ; Chelation Therapy/methods ; Diet ; Hemochromatosis/genetics ; Hemochromatosis/therapy ; Hemochromatosis Protein/genetics ; Homozygote ; Phlebotomy/methods
    Chemical Substances Hemochromatosis Protein
    Language English
    Publishing date 2018-03-27
    Publishing country United States
    Document type Journal Article ; Practice Guideline
    ZDB-ID 2270316-0
    ISSN 1936-0541 ; 1936-0533
    ISSN (online) 1936-0541
    ISSN 1936-0533
    DOI 10.1007/s12072-018-9855-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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