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  1. Article ; Online: Systematic study of ophthalmological findings in 10 patients with

    Karuntu, Jessica S / Klouwer, Femke C C / Engelen, Marc / Boon, Camiel J F

    Ophthalmic genetics

    2024  , Page(s) 1–12

    Abstract: Purpose: This cross-sectional study describes the ophthalmological and general phenotype of 10 patients from six different families with a comparatively mild form of Zellweger spectrum disorder (ZSD), a rare peroxisomal disorder.: Methods: ... ...

    Abstract Purpose: This cross-sectional study describes the ophthalmological and general phenotype of 10 patients from six different families with a comparatively mild form of Zellweger spectrum disorder (ZSD), a rare peroxisomal disorder.
    Methods: Ophthalmological assessment included best-corrected visual acuity (BCVA), perimetry, microperimetry, ophthalmoscopy, fundus photography, spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) imaging. Medical records were reviewed for medical history and systemic manifestations of ZSD.
    Results: Nine patients were homozygous for c.2528 G > A (p.Gly843Asp) variants in
    Conclusion: This study highlights the ophthalmological phenotype resembling RP with moderate to severe visual impairment in patients with mild ZSD. These findings can aid ophthalmologists in diagnosing, counselling, and managing patients with mild ZSD.
    Language English
    Publishing date 2024-04-25
    Publishing country England
    Document type Journal Article
    ZDB-ID 1199279-7
    ISSN 1744-5094 ; 0167-6784 ; 1381-6810
    ISSN (online) 1744-5094
    ISSN 0167-6784 ; 1381-6810
    DOI 10.1080/13816810.2024.2330389
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1708: Show issues Location:
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  2. Article ; Online: Increased Histological Tumor Pigmentation in Uveal Melanoma Is Related to Eye Color and Loss of Chromosome 3/BAP1.

    Gelmi, Maria Chiara / Wierenga, Annemijn P A / Kroes, Wilma G M / van Duinen, Sjoerd G / Karuntu, Jessica S / Marinkovic, Marina / Bleeker, Jaco C / Luyten, Gregorius P M / Vu, T H Khanh / Verdijk, Robert M / Jager, Martine J

    Ophthalmology science

    2023  Volume 3, Issue 3, Page(s) 100297

    Abstract: Purpose: Heavy pigmentation is known to be a prognostic risk factor in uveal melanoma (UM). We analyzed whether genetic tumor parameters were associated with tumor pigmentation and whether pigmentation should be included in prognostic tests.: Design: ...

    Abstract Purpose: Heavy pigmentation is known to be a prognostic risk factor in uveal melanoma (UM). We analyzed whether genetic tumor parameters were associated with tumor pigmentation and whether pigmentation should be included in prognostic tests.
    Design: Retrospective comparison of clinical, histopathological, and genetic features and survival in UM with different pigmentation.
    Participants: A total of 1058 patients with UM from a White European population with diverse eye colors enucleated between 1972 and 2021.
    Methods: Cox regression and log-rank tests were used for survival analysis; the chi-square test and Mann-Whitney
    Main outcome measures: Uveal melanoma-related survival based on tumor pigmentation and chromosome status, correlation of tumor pigmentation with prognostic factors.
    Results: The 5-year UM-related mortality was 8% in patients with nonpigmented tumors (n = 54), 25% with lightly pigmented tumors (n = 489), 41% with moderately pigmented tumors (n = 333), and 33% with dark tumors (n = 178) (
    Conclusions: Patients with moderately and heavily pigmented tumors showed a significantly higher UM-related mortality than patients with unpigmented and light tumors (
    Language English
    Publishing date 2023-03-11
    Publishing country Netherlands
    Document type Journal Article
    ISSN 2666-9145
    ISSN (online) 2666-9145
    DOI 10.1016/j.xops.2023.100297
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study.

    Karuntu, Jessica S / Nguyen, Xuan-Thanh-An / Talib, Mays / van Schooneveld, Mary J / Wijnholds, Jan / van Genderen, Maria M / Schalij-Delfos, Nicoline E / Klaver, Caroline C W / Meester-Smoor, Magda A / van den Born, L Ingeborgh / Hoyng, Carel B / Thiadens, Alberta A H J / Bergen, Arthur A / van Nispen, Ruth M A / Boon, Camiel J F

    Acta ophthalmologica

    2023  Volume 102, Issue 4, Page(s) 469–477

    Abstract: Purpose: To assess the longitudinal vision-related quality of life among patients with CRB1-associated inherited retinal dystrophies.: Methods: In this longitudinal questionnaire study, the National Eye Institute Visual Function Questionnaire (39 ... ...

    Abstract Purpose: To assess the longitudinal vision-related quality of life among patients with CRB1-associated inherited retinal dystrophies.
    Methods: In this longitudinal questionnaire study, the National Eye Institute Visual Function Questionnaire (39 items, NEI VFQ-39) was applied at baseline, two-year follow-up, and 4-year follow-up in patients with pathogenic CRB1 variants. [Correction added on 20 November 2023, after first online publication: The preceding sentence has been updated in this version.] Classical test theory was performed to obtain subdomain scores and in particular 'near activities' and 'total composite' scores. The Rasch analysis based on previous calibrations of the NEI VFQ-25 was applied to create visual functioning and socio-emotional subscales.
    Results: In total, 22 patients with a CRB1-associated retinal dystrophy were included, […] with a median age of 25.0 years (interquartile range: 13-31 years) at baseline and mean follow-up of 4.0 ± 0.3 years. [Correction added on 20 November 2023, after first online publication: The preceding sentence has been updated in this version.] A significant decline at 4 years was observed for 'near activities' (51.0 ± 23.8 vs 35.4 ± 14.7, p = 0.004) and 'total composite' (63.0 ± 13.1 vs 52.0 ± 12.1, p = 0.001) subdomain scores. For the Rasch-scaled scores, the 'visual functioning' scale significantly decreased after 2 years (-0.89 logits; p = 0.012), but not at 4-year follow-up (+0.01 logits; p = 0.975). [Correction added on 20 November 2023, after first online publication: In the preceding sentence, "…after 4 years…" has been corrected to "…after 2 years…" in this version.] The 'socio-emotional' scale also showed a significant decline after 2 years (-0.78 logits, p = 0.033) and 4 years (-0.83 logits, p = 0.021).
    Conclusion: In the absence of an intervention, a decline in vision-related quality of life is present in patients with pathogenic CRB1 variants at 4-year follow-up. Patient-reported outcome measures should be included in future clinical trials, as they can be a potential indicator of disease progression and treatment efficacy.
    MeSH term(s) Humans ; Quality of Life ; Male ; Female ; Adult ; Adolescent ; Retinal Dystrophies/genetics ; Retinal Dystrophies/physiopathology ; Retinal Dystrophies/diagnosis ; Retinal Dystrophies/psychology ; Young Adult ; Eye Proteins/genetics ; Membrane Proteins/genetics ; Nerve Tissue Proteins/genetics ; Visual Acuity/physiology ; Follow-Up Studies ; Surveys and Questionnaires ; Sickness Impact Profile
    Chemical Substances CRB1 protein, human ; Eye Proteins ; Membrane Proteins ; Nerve Tissue Proteins
    Language English
    Publishing date 2023-09-25
    Publishing country England
    Document type Journal Article
    ZDB-ID 2408333-1
    ISSN 1755-3768 ; 1755-375X
    ISSN (online) 1755-3768
    ISSN 1755-375X
    DOI 10.1111/aos.15769
    Database MEDical Literature Analysis and Retrieval System OnLINE

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