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  1. Article: Einleitungsinterview zu Adipositas in der Frauenheilkunde: "Ich rate zu guter Aufklärung und Dokumentation". Redaktion: I. Bartmann. Im Interview: J. Ott

    Bartmann, I. / Ott, J.

    Gyn-aktiv

    2023  Volume -, Issue 1, Page(s) 16

    Language German
    Document type Article
    ZDB-ID 2213296-X
    ISSN 1605-8828
    Database Current Contents Medicine

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  2. Article: Polycystic Ovary Syndrome: Familiar to Millions?

    Ott, Johannes

    Journal of clinical medicine

    2020  Volume 10, Issue 1

    Abstract: Often, articles about polycystic ovary syndrome (PCOS) start with information about the condition's high prevalence, the basic characteristics that define this endocrine disorder, and the manifold somatic and/or psychological consequences [ ... ]. ...

    Abstract Often, articles about polycystic ovary syndrome (PCOS) start with information about the condition's high prevalence, the basic characteristics that define this endocrine disorder, and the manifold somatic and/or psychological consequences [...].
    Language English
    Publishing date 2020-12-23
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm10010001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Book ; Online: Models and Methods for the Genetic Analysis of Pedigree Data

    Ott, J.

    1992  

    Keywords Genetics
    Language English
    Size 1 Online-Ressource (92 S.)
    Publisher S. Karger
    Publishing place Basel
    Document type Book ; Online
    HBZ-ID HT019541723
    ISBN 978-3-318-04947-3 ; 3-318-04947-6
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  4. Article: Overview of frequent pattern mining.

    Ott, Jurg / Park, Taesung

    Genomics & informatics

    2022  Volume 20, Issue 4, Page(s) e39

    Abstract: Various methods of frequent pattern mining have been applied to genetic problems, specifically, to the combined association of two genotypes (a genotype pattern, or diplotype) at different DNA variants with disease. These methods have the ability to come ...

    Abstract Various methods of frequent pattern mining have been applied to genetic problems, specifically, to the combined association of two genotypes (a genotype pattern, or diplotype) at different DNA variants with disease. These methods have the ability to come up with a selection of genotype patterns that are more common in affected than unaffected individuals, and the assessment of statistical significance for these selected patterns poses some unique problems, which are briefly outlined here.
    Language English
    Publishing date 2022-12-30
    Publishing country Korea (South)
    Document type Journal Article
    ZDB-ID 2802682-2
    ISSN 2234-0742 ; 1598-866X
    ISSN (online) 2234-0742
    ISSN 1598-866X
    DOI 10.5808/gi.22074
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Machine learning approaches to explore digenic inheritance.

    Okazaki, Atsuko / Ott, Jurg

    Trends in genetics : TIG

    2022  Volume 38, Issue 10, Page(s) 1013–1018

    Abstract: Some rare genetic disorders, such as retinitis pigmentosa or Alport syndrome, are caused by the co-inheritance of DNA variants at two different genetic loci (digenic inheritance). To capture the effects of these disease-causing variants and their ... ...

    Abstract Some rare genetic disorders, such as retinitis pigmentosa or Alport syndrome, are caused by the co-inheritance of DNA variants at two different genetic loci (digenic inheritance). To capture the effects of these disease-causing variants and their possible interactive effects, various statistical methods have been developed in human genetics. Analogous developments have taken place in the field of machine learning, particularly for the field that is now called Big Data. In the past, these two areas have grown independently and have started to converge only in recent years. We discuss an overview of each of the two fields, paying special attention to machine learning methods for uncovering the combined effects of pairs of variants on human disease.
    MeSH term(s) Humans ; Inheritance Patterns/genetics ; Machine Learning ; Multifactorial Inheritance ; Mutation ; Pedigree
    Language English
    Publishing date 2022-05-14
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 619240-3
    ISSN 1362-4555 ; 0168-9525 ; 0168-9479
    ISSN (online) 1362-4555
    ISSN 0168-9525 ; 0168-9479
    DOI 10.1016/j.tig.2022.04.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Premature ovarian insufficiency and autoimmune profiles: a prospective case-control study.

    Beitl, K / Ott, J / Rosta, K / Holzer, I / Foessleitner, P / Steininger, J / Panay, N

    Climacteric : the journal of the International Menopause Society

    2023  Volume 27, Issue 2, Page(s) 187–192

    Abstract: Objective: Autoimmunity seems to be present in a large proportion of women with spontaneous premature ovarian insufficiency (POI). Whether these women are at increased risk for autoimmune disease has not been determined to date. Therefore, the aim of ... ...

    Abstract Objective: Autoimmunity seems to be present in a large proportion of women with spontaneous premature ovarian insufficiency (POI). Whether these women are at increased risk for autoimmune disease has not been determined to date. Therefore, the aim of this study was to investigate a large series of antibodies in order to shed more light into the autoimmune risk of POI women.
    Methods: In a prospective case-control study, blood samples from 66 patients with spontaneous POI and 66 healthy controls were analyzed for a series of autoimmune antibodies.
    Results: POI women revealed significantly increased thyroglobulin antibodies (TGAb) (
    Conclusion: A high prevalence of autoimmunity in POI women compared to a healthy young collective could be demonstrated. Thyroid antibodies were significantly increased in POI women. Our data highlight the increased risk for autoimmune diseases, especially for thyroid disorders.
    MeSH term(s) Humans ; Female ; Case-Control Studies ; Autoantibodies ; Primary Ovarian Insufficiency ; Menopause, Premature ; Autoimmune Diseases ; Autoimmunity
    Chemical Substances Autoantibodies
    Language English
    Publishing date 2023-12-18
    Publishing country England
    Document type Journal Article
    ZDB-ID 1469153-x
    ISSN 1473-0804 ; 1369-7137
    ISSN (online) 1473-0804
    ISSN 1369-7137
    DOI 10.1080/13697137.2023.2287631
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Funktionelle hypothalamische Amenorrhö

    Hager, M. / Ott, J.

    Gyn-aktiv

    2021  Volume -, Issue 3, Page(s) 36

    Language German
    Document type Article
    ZDB-ID 2213296-X
    ISSN 1605-8828
    Database Current Contents Medicine

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  8. Article: A multi-threaded approach to genotype pattern mining for detecting digenic disease genes.

    Zhang, Qingrun / Bhatia, Muskan / Park, Taesung / Ott, Jurg

    Frontiers in genetics

    2023  Volume 14, Page(s) 1222517

    Abstract: To locate disease-causing DNA variants on the human gene map, the customary approach has been to carry out a genome-wide association study for one variant after another by testing for genotype frequency differences between individuals affected and ... ...

    Abstract To locate disease-causing DNA variants on the human gene map, the customary approach has been to carry out a genome-wide association study for one variant after another by testing for genotype frequency differences between individuals affected and unaffected with disease. So-called digenic traits are due to the combined effects of two variants, often on different chromosomes, while individual variants may have little or no effect on disease. Machine learning approaches have been developed to find variant pairs underlying digenic traits. However, many of these methods have large memory requirements so that only small datasets can be analyzed. The increasing availability of desktop computers with large numbers of processors and suitable programming to distribute the workload evenly over all processors in a machine make a new and relatively straightforward approach possible, that is, to evaluate all existing variant and genotype pairs for disease association. We present a prototype of such a method with two components,
    Language English
    Publishing date 2023-08-24
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2023.1222517
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Association of delirium and spatial neglect in patients with right-hemisphere stroke.

    Ott, Jamie / Oh-Park, Mooyeon / Boukrina, Olga

    PM & R : the journal of injury, function, and rehabilitation

    2023  Volume 15, Issue 9, Page(s) 1075–1082

    Abstract: Background: Delirium, an acute and fluctuating decline in cognitive functioning, increases mortality and length of hospital stays (LOS) and adversely affects functional outcomes. Previous studies suggested that the incidence of delirium may be increased ...

    Abstract Background: Delirium, an acute and fluctuating decline in cognitive functioning, increases mortality and length of hospital stays (LOS) and adversely affects functional outcomes. Previous studies suggested that the incidence of delirium may be increased in right-hemisphere strokes. Similarly, spatial neglect, a disabling deficit in unilateral spatial processing, is more common and more severe following a right-sided stroke. Spatial neglect has been established as a risk factor for delirium.
    Objective: It was hypothesized that functionally relevant spatial neglect and delirium are associated in patients with right-hemisphere stroke during acute inpatient rehabilitation. Data were examined from consecutive unilateral stroke patients evaluated with the 3-minute diagnostic interview for confusion assessment method (3D-CAM) and the Catherine Bergego Scale (CBS) via the Kessler Foundation Neglect Assessment Process (KF-NAP).
    Design: A retrospective, cohort study.
    Setting: Data collected in an acute inpatient rehabilitation facility.
    Participants: Six hundred twenty six patients with stroke were included.
    Main outcome measures: The measures were the relative risk of patients with right-hemisphere stroke having delirium when also positive for spatial neglect compared to patients with right-hemisphere stroke without spatial neglect, the incidence of 3D-CAM positive results by stroke hemisphere, and the effect of spatial neglect and delirium on functional outcomes for patients with right-brain stroke patients.
    Results: There was a significantly higher risk of delirium in patients with right-hemisphere stroke with spatial neglect compared to patients with right-hemisphere stroke without spatial neglect. The rates of 3D-CAM positive results were not statistically different for left- compared to right-hemisphere strokes. Both delirium and spatial neglect had significant adverse effects on right-hemisphere stroke patients' functional independence.
    Conclusions: The results demonstrate an association between spatial neglect and delirium in patients with right hemisphere stroke in the acute inpatient rehabilitation setting. Because of the negative effect of these impairments on functional outcomes after stroke, prevention, early detection, and targeted treatments should be prioritized for these patients.
    MeSH term(s) Humans ; Stroke Rehabilitation ; Cohort Studies ; Retrospective Studies ; Disability Evaluation ; Stroke/complications ; Perceptual Disorders/epidemiology ; Perceptual Disorders/etiology ; Perceptual Disorders/diagnosis ; Delirium/epidemiology ; Delirium/etiology ; Functional Laterality
    Language English
    Publishing date 2023-02-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2608988-9
    ISSN 1934-1563 ; 1934-1482
    ISSN (online) 1934-1563
    ISSN 1934-1482
    DOI 10.1002/pmrj.12922
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Primary aldosteronism without hypertension:A case report and review of the literature

    Dimitrov, Yves / Ott, Julien / Beguin, Lisa / Muller, Brieuc

    Nephrologie & therapeutique

    2023  Volume 19, Issue 7, Page(s) 591–593

    Abstract: We describe the case of a patient who presented with hyperaldosteronism without arterial hypertension. She had been referred for consultation for persistent severe hypokalaemia despite oral KCl supplementation. The absence of hypertension had been proven ...

    Title translation Hyperaldostéronisme primaire sans hypertension artérielle : à propos d’un cas et revue de la littérature
    Abstract We describe the case of a patient who presented with hyperaldosteronism without arterial hypertension. She had been referred for consultation for persistent severe hypokalaemia despite oral KCl supplementation. The absence of hypertension had been proven by repeated clinical measurements and by ABPM. Hyperaldosteronism had been demonstrated by hormonal assays and catheterization of the adrenal veins. Abdominal CT revealed a left adrenal adenoma. Finally, the anatomopathological examination of the surgical specimen confirmed the adenoma. After the intervention, serum potassium normalized. The clinical case is completed by a review of the literature of hyperaldosteronisms without arterial hypertension.
    MeSH term(s) Female ; Humans ; Adrenal Gland Neoplasms/complications ; Adrenal Gland Neoplasms/diagnosis ; Adrenal Gland Neoplasms/surgery ; Adenoma/complications ; Adenoma/diagnosis ; Adenoma/surgery ; Hyperaldosteronism/complications ; Hyperaldosteronism/diagnosis ; Hypertension/complications ; Hypokalemia/etiology ; Aldosterone
    Chemical Substances Aldosterone (4964P6T9RB)
    Language French
    Publishing date 2023-12-11
    Publishing country France
    Document type Review ; Case Reports ; Journal Article
    ZDB-ID 2229575-6
    ISSN 1872-9177 ; 1769-7255
    ISSN (online) 1872-9177
    ISSN 1769-7255
    DOI 10.1684/ndt.2023.53
    Database MEDical Literature Analysis and Retrieval System OnLINE

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