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  1. Book ; Thesis: Abhängigkeit des Bedarfs an Analgetika und Sedativa bei beatmeten reifen Neugeborenen vom Ausmaß des akuten Lungenversagens als Hinweis für eine schmerzunabhängige, endogen distressbedingte Ätiologie

    Aretz, Stefan

    2001  

    Author's details vorgelegt von Stefan Aretz
    Language German
    Size 166 S. : graph. Darst.
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Köln, Univ., Diss., 2001
    HBZ-ID HT012996341
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2001 D 1004 order for loan Magazin

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  2. Book: Medizinische Genetik für die Praxis

    Aretz, Stefan / Moog, Ute

    Diagnostik, Beratung, Fallbeispiele

    2014  

    Author's details hrsg. von Ute Moog ... Mit Beitr. von Stefan Aretz
    Keywords Humangenetik ; Erbkrankheit ; Risikofaktor ; Genetische Beratung
    Subject Risikofaktoren ; Genetische Krankheit ; Heredopathie ; Genetisch bedingte Krankheit ; Genetisches Syndrom ; Erbkrankheiten ; Medizinische Genetik ; Anthropogenetik ; Mensch ; Medizin ; Humangenetische Beratung ; Prädiktive genetische Beratung ; Prädiktive genetische Diagnostik
    Language German
    Size 418 S. : Ill., graph. Darst.
    Publisher Thieme
    Publishing place Stuttgart u.a.
    Publishing country Germany
    Document type Book
    HBZ-ID HT018333899
    ISBN 978-3-13-172721-3 ; 3-13-172721-7 ; 9783131727312 ; 9783131775214 ; 3131727314 ; 3131775211
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

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    2014 A 2804 available for loan (reading room) Lesesaal EG

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  3. Article ; Online: High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients.

    Biermann, Sabine / Knapp, Michael / Wieacker, Peter / Aretz, Stefan / Steinke-Lange, Verena

    Familial cancer

    2024  

    Abstract: Lynch syndrome (LS; HNPCC) patients carry heterozygous pathogenic germline variants in mismatch repair (MMR) genes, which have also been shown to play an important role in meiosis. Therefore, it was hypothesized, that LS might be associated with a higher ...

    Abstract Lynch syndrome (LS; HNPCC) patients carry heterozygous pathogenic germline variants in mismatch repair (MMR) genes, which have also been shown to play an important role in meiosis. Therefore, it was hypothesized, that LS might be associated with a higher risk for premature ovarian failure (POF) or earlier menopause. Data on medical gynaecological history, cancer diagnoses and therapy were collected from 167 female LS patients and compared to a population-based control cohort. There was no difference between the age of menopause in patients compared to controls and no evidence for a higher risk of POF in LS patients. However, around one third (35%) of the probands have already had premenopausal cancer and mostly cancer-related treatment affecting fertility before the age of 45 years. Therefore, childbearing time might still be limited in these patients, especially due to the premenopausal cancer risk. LS patients should be informed in time about the elevated premenopausal cancer risks and the possible impact on family planning. This is particularly relevant since the average childbearing age has increased during the last decades.
    Language English
    Publishing date 2024-01-27
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 1502496-9
    ISSN 1573-7292 ; 1389-9600
    ISSN (online) 1573-7292
    ISSN 1389-9600
    DOI 10.1007/s10689-024-00357-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6099: Show issues Location:
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  4. Book: Grundlagen der molekularen Medizin

    Aretz, Stefan / Ganten, Detlev

    mit 28 Tabellen

    2008  

    Author's details Detlev Ganten ... (Hrsg.). Mit Beitr. von Stefan Aretz
    Keywords Cells ; Molecular Biology ; Molekulare Medizin ; Medizin ; Cytologie
    Subject Zellbiologie ; Zellenlehre ; Zellforschung ; Zellkunde ; Zelluologie ; Zytologie ; Zelle ; Humanmedizin ; Heilkunst ; Medicine ; Medizin ; Genmedizin
    Language German
    Size XXXVII, 546 S. : Ill., graph. Darst.
    Edition 3., überarb. und erw. Aufl.
    Publisher Springer
    Publishing place Heidelberg
    Publishing country Germany
    Document type Book
    HBZ-ID HT015381779
    ISBN 978-3-540-69412-0 ; 3-540-69412-9
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

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    2007 A 6927 order for loan Magazin
    2008 A 508 order for loan Magazin

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  5. Article: Der diagnostische Blick. 2-jähriger Junge mit Makrozephalie und Leukenzephalopathie

    Rosewich, Hendrik / Aretz, Stefan / Brockmann, Knut

    Kinderärztliche Praxis

    2021  Volume 92, Issue 4, Page(s) 89

    Language German
    Document type Article
    ZDB-ID 209040-5
    ISSN 0023-1495
    Database Current Contents Medicine

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    In stock of ZB MED Cologne/Königswinter

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  6. Article ; Online: The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes.

    Aretz, Stefan

    Deutsches Arzteblatt international

    2010  Volume 107, Issue 10, Page(s) 163–173

    Abstract: Background: Hereditary gastrointestinal polyposis syndromes account for about 1% of all cases of colorectal cancer and are associated with a broad spectrum of extracolonic tumors. The early detection and accurate classification of these syndromes are ... ...

    Abstract Background: Hereditary gastrointestinal polyposis syndromes account for about 1% of all cases of colorectal cancer and are associated with a broad spectrum of extracolonic tumors. The early detection and accurate classification of these syndromes are essential, since effective methods for surveillance and treatment are available.
    Methods: This review article is based on a selective literature search, the author's own work, and evidence-based guidelines and recommendations.
    Results and conclusions: The diagnosis is initially suspected on the basis of the endoscopic findings and polyp histology. Because different syndromes can resemble each other phenotypically, e.g., autosomal dominant familial adenomatous polyposis and autosomal recessive MUTYH-associated polyposis, molecular genetic studies are important for differential diagnosis and for assessing the risk of recurrence. Identification of the familial mutation in an affected patient is a prerequisite for predictive testing in asymptomatic persons at risk and sometimes enables prognostication. In recent years, the rate of detection of mutations has risen by 10% to 30%, and clinically relevant genotype-phenotype correlations have been described for juvenile polyposis syndrome. Except in cases of mild adenomatous polyposis, phenotypic overlap among the hamartomatous polyposes often causes difficulties in differential diagnosis. Thus, in unclear cases, a pathologist with special expertise in gastrointestinal disorders should be consulted for the evaluation of polyp tissue. Aside from the monogenic polyposes, there are many other types of polyposis that are non-hereditary or of unknown cause, including the hyperplastic and mixed polyposis syndromes. Risk-adapted surveillance programs have been established for the more frequently occurring polyposes.
    MeSH term(s) Adenomatous Polyposis Coli/diagnosis ; Adenomatous Polyposis Coli/genetics ; Adenomatous Polyposis Coli/pathology ; Chromosome Aberrations ; DNA Mutational Analysis ; Diagnosis, Differential ; Early Diagnosis ; Endoscopy, Gastrointestinal ; Evidence-Based Medicine ; Genes, Dominant/genetics ; Genes, Recessive/genetics ; Genetic Carrier Screening ; Genetic Testing ; Genotype ; Humans ; Intestinal Mucosa/pathology ; Mass Screening ; Phenotype ; Practice Guidelines as Topic ; Prognosis
    Language English
    Publishing date 2010-03-12
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 2406159-1
    ISSN 1866-0452 ; 1866-0452
    ISSN (online) 1866-0452
    ISSN 1866-0452
    DOI 10.3238/arztebl.2010.0163
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Seltene Tumoren als Leitsymptom hereditärer Tumorsyndrome.

    Perne, Claudia / Steinke-Lange, Verena / Aretz, Stefan / Spier, Isabel

    Der Pathologe

    2020  Volume 41, Issue 5, Page(s) 535–549

    Abstract: Background: Monogenic hereditary tumor syndromes or tumor disposition syndromes (TDS) are based on germline/constitutional mutations in key genes of carcinogenesis. Early onset and a clustering of tumors belonging to a typical spectrum in the personal ... ...

    Title translation Rare tumors as leading symptom of hereditary tumor syndromes.
    Abstract Background: Monogenic hereditary tumor syndromes or tumor disposition syndromes (TDS) are based on germline/constitutional mutations in key genes of carcinogenesis. Early onset and a clustering of tumors belonging to a typical spectrum in the personal or family history are indicators for a hereditary form. In particular, rare specific tumors occur relatively frequently in the context of TDS.
    Methods: Based on a literature search the current article presents information on which TDS should be considered for differential diagnosis (DD) in the presence of a rare tumor.
    Results: The identification of a causal germline mutation in the index patient is important for the DD, the evaluation of recurrence risks, and predictive testing of asymptomatic at-risk family members. In TDS with autosomal dominant inheritance, it is often possible to identify several high-risk individuals in the affected families.
    Conclusion: Early detection and correct classification are of high clinical relevance as the patients and persons at risk can often be offered effective preventive procedures (surveillance, prophylactic operations), and in some cases, special therapeutic options exist. TDS are paradigmatic for an extremely successful concept of preventive oncology and personalized medicine. The introduction of new methods of high-throughput sequencing (next generation sequencing) enables a more effective genetic diagnosis, but also poses a challenge for the interpretation of findings and counseling. Referral to multidisciplinary expert centers is useful for care of the families.
    MeSH term(s) Genetic Predisposition to Disease/genetics ; Genetic Testing ; Germ-Line Mutation ; High-Throughput Nucleotide Sequencing ; Humans ; Neoplastic Syndromes, Hereditary/diagnosis ; Neoplastic Syndromes, Hereditary/genetics
    Language German
    Publishing date 2020-08-11
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 135954-x
    ISSN 1432-1963 ; 0172-8113
    ISSN (online) 1432-1963
    ISSN 0172-8113
    DOI 10.1007/s00292-020-00806-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1543: Show issues Location:
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    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
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  8. Book: Medizinische Genetik für die Praxis

    Aretz, Stefan / Moog, Ute

    Diagnostik, Beratung, Fallbeispiele

    2014  

    Author's details hrsg. von Ute Moog ... Mit Beitr. von Stefan Aretz
    Keywords Risikofaktor ; Humangenetik ; Genetische Beratung ; Erbkrankheit
    Language German
    Size 418 S., Ill., graph. Darst., 240 mm x 170 mm
    Publisher Thieme
    Publishing place Stuttgart u.a.
    Document type Book
    Note Literaturangaben
    ISBN 3131727217 ; 9783131727213 ; 9783131727312 ; 9783131775214 ; 3131727314 ; 3131775211
    Database Former special subject collection: coastal and deep sea fishing

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  9. Article ; Online: Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome.

    Dueñas, Nuria / Klinkhammer, Hannah / Bonifaci, Nuria / Spier, Isabel / Mayr, Andreas / Hassanin, Emadeldin / Diez-Villanueva, Anna / Moreno, Victor / Pineda, Marta / Maj, Carlo / Capellà, Gabriel / Aretz, Stefan / Brunet, Joan

    Journal of medical genetics

    2023  Volume 60, Issue 11, Page(s) 1044–1051

    Abstract: Background: Polygenic risk scores (PRSs) have been used to stratify colorectal cancer (CRC) risk in the general population, whereas its role in Lynch syndrome (LS), the most common type of hereditary CRC, is still conflicting. We aimed to assess the ... ...

    Abstract Background: Polygenic risk scores (PRSs) have been used to stratify colorectal cancer (CRC) risk in the general population, whereas its role in Lynch syndrome (LS), the most common type of hereditary CRC, is still conflicting. We aimed to assess the ability of PRS to refine CRC risk prediction in European-descendant individuals with LS.
    Methods: 1465 individuals with LS (557
    Results: Overall, we did not observe a statistically significant association between PRS and CRC risk in the entire cohort. Nevertheless, PRS was significantly associated with a slightly increased risk of CRC or advanced adenoma (AA), in those with CRC diagnosed <50 years and in individuals with multiple CRCs or AAs diagnosed <60 years.
    Conclusion: The PRS may slightly influence CRC risk in individuals with LS in particular in more extreme phenotypes such as early-onset disease. However, the study design and recruitment strategy strongly influence the results of PRS studies. A separate analysis by genes and its combination with other genetic and non-genetic risk factors will help refine its role as a risk modifier in LS.
    Language English
    Publishing date 2023-06-15
    Publishing country England
    Document type Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg-2023-109344
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 177: Show issues Location:
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  10. Article: Übersicht über die klinischen Merkmale des Li-Fraumeni Syndroms und die aktuelle europäische Leitlinie des ERN GENTURIS

    Kratz, Christian Peter / Steinke-Lange, Verena / Spier, Isabel / Aretz, Stefan / Schröck, Evelin / Holinski-Feder, Elke

    TumorDiagnostik & Therapie

    2023  Volume 44, Issue 02, Page(s) 147–155

    Abstract: Patienten mit einem Tumor-Risiko-Syndrom haben ein deutlich erhöhtes Risiko, im Laufe des Lebens an Krebs zu erkranken. Hinweise auf ein Tumor-Risiko-Syndrom können eine positive Familienanamnese für Tumorerkrankungen oder ein ungewöhnlich frühes ... ...

    Abstract Patienten mit einem Tumor-Risiko-Syndrom haben ein deutlich erhöhtes Risiko, im Laufe des Lebens an Krebs zu erkranken. Hinweise auf ein Tumor-Risiko-Syndrom können eine positive Familienanamnese für Tumorerkrankungen oder ein ungewöhnlich frühes Erkrankungsalter geben. Die Diagnose eines Tumor-Risiko-Syndroms ermöglicht die Empfehlung eines risikoangepassten Tumor-Früherkennungs-Programms für den Patienten und die (asymptomatischen) Risikopersonen in der Familie. Hierdurch können mögliche Tumoren früh erkannt und somit fortgeschrittene Tumorerkrankungen häufig verhindert werden. Das Li-Fraumeni Syndrom geht mit einem deutlich erhöhten Risiko insbesondere für Sarkome und Brustkrebs einher, häufig wird es bei den Betroffenen jedoch klinisch nicht diagnostiziert. Dieser Artikel gibt einen Überblick über das klinische Bild, die genetischen Ursachen sowie die Besonderheiten in der Diagnostik und Versorgung der Patienten mit einem Li-Fraumeni Syndrom. Die Initiative resultiert aus dem europäischen Referenznetzwerk GENTURIS, das sich die Verbesserung der Erfassung und Versorgung von Patienten mit Tumor-Risiko-Syndromen zur Aufgabe gemacht hat. Ein erster Schritt ist die aktuelle Veröffentlichung einer europäischen Leitlinie für das Li-Fraumeni Syndrom, die hier zusammengefasst und im Kontext bestehender Empfehlungen diskutiert wird.
    Keywords Li-Fraumeni Syndrom ; TP53 ; Tumor-Risiko-Syndrome ; Krebsfrüherkennung ; Leitlinie ; Li-Fraumeni syndrome ; TP53 ; tumour risk syndromes ; cancer screening ; guideline
    Language German
    Publishing date 2023-03-01
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 2072365-9
    ISSN 1439-1279 ; 0722-219X
    ISSN (online) 1439-1279
    ISSN 0722-219X
    DOI 10.1055/a-2013-9113
    Database Thieme publisher's database

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