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  1. Article ; Online: A cross-sectional study of erythromelalgia in patients with pachyonychia congenita.

    McCarthy, Rebecca L / Schwartz, Janice / Oldham, Jaimie / Bodemer, Christine / Greco, Celine / Hovnanian, Alain / Hansen, C David / O'Toole, Edel A

    The British journal of dermatology

    2024  

    Language English
    Publishing date 2024-04-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 80076-4
    ISSN 1365-2133 ; 0007-0963
    ISSN (online) 1365-2133
    ISSN 0007-0963
    DOI 10.1093/bjd/ljae143
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma.

    Del Caño, Laura Ramos / South, Andrew P / O'Toole, Edel A / Kelsell, David P / Blaydon, Diana C

    The Journal of investigative dermatology

    2024  

    Language English
    Publishing date 2024-03-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80136-7
    ISSN 1523-1747 ; 0022-202X
    ISSN (online) 1523-1747
    ISSN 0022-202X
    DOI 10.1016/j.jid.2024.02.028
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Cathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: a case report.

    McCarthy, Rebecca L / Gnanappiragasam, Dushyanth / Scorer, Matthew / Taylor, Marisa / O'Toole, Edel A

    Clinical and experimental dermatology

    2023  Volume 48, Issue 11, Page(s) 1298–1300

    MeSH term(s) Humans ; Cathepsin C/genetics ; Papillon-Lefevre Disease/genetics ; Acro-Osteolysis ; Mutation
    Chemical Substances Cathepsin C (EC 3.4.14.1)
    Language English
    Publishing date 2023-07-25
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 195504-4
    ISSN 1365-2230 ; 0307-6938
    ISSN (online) 1365-2230
    ISSN 0307-6938
    DOI 10.1093/ced/llad241
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration.

    Schwartz, Janice N / Evans, Holly A / O'toole, Edel A / Hansen, C David

    The Keio journal of medicine

    2023  

    Abstract: Pachyonychia Congenita Project (PC Project) is an international patient advocacy organization dedicated to patients who suffer from pachyonychia congenita (PC). This condition is a painful and debilitating skin disorder caused by a mutation in one of ... ...

    Abstract Pachyonychia Congenita Project (PC Project) is an international patient advocacy organization dedicated to patients who suffer from pachyonychia congenita (PC). This condition is a painful and debilitating skin disorder caused by a mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16,or KRT17. Through two primary programs, namely the International Pachyonychia Congenita Consortium (IPCC) and the International Pachyonychia Congenita Research Registry (IPCRR), PC Project provides comprehensive patient support and diagnostics while uniting patients, researchers, physicians, and industry partners on a global level to advance research and drug development for meaningful treatments and, ultimately, a cure for PC.
    Language English
    Publishing date 2023-12-08
    Publishing country Japan
    Document type Journal Article
    ZDB-ID 390981-5
    ISSN 1880-1293 ; 0022-9717
    ISSN (online) 1880-1293
    ISSN 0022-9717
    DOI 10.2302/kjm.2023-0015-IR
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Dermatology Quality of Life Index scores in Bangladeshi patients with atopic eczema and their families in East London.

    Tawfik, Soha S / Thomas, Bjorn R / Kelsell, David P / Grigg, Jonathan / O'Toole, Edel A

    The British journal of dermatology

    2023  Volume 188, Issue 4, Page(s) 524–532

    Abstract: Background: Atopic eczema (AE) is a chronic relapsing, pruritic disease that greatly affects the child and family's quality of life (QoL). It is usually common and severe among children of Bangladeshi ethnicity.: Objectives: This is a cross-sectional ...

    Abstract Background: Atopic eczema (AE) is a chronic relapsing, pruritic disease that greatly affects the child and family's quality of life (QoL). It is usually common and severe among children of Bangladeshi ethnicity.
    Objectives: This is a cross-sectional quantitative study in patients with AE of Bangladeshi origin, which aims to analyse different components of the family, children and adult quality-of-life indices and their relationship to patient age, sex, eczema severity and distribution, other allergic associations, parental education and socioeconomic level.
    Methods: Children and young adults of Bangladeshi origin aged 0-30 years, clinically diagnosed with AE were recruited as part of the Tower Hamlets Eczema Assessment project, a clinical phenotyping study of AE in the Bangladeshi population living in East London. Questionnaires completed by children/parents included the Family Dermatology Life Quality Index (FDLQI), Infant's Dermatology Quality of Life (IDQOL) and the Children's Dermatology Life Quality Index (CDLQI). Young adults completed the Dermatology Life Quality Index (DLQI). The disease severity was assessed objectively using the Eczema Area Severity Index (EASI). Patients and parents who did not read or speak English were aided by Bengali/Sylheti-speaking research assistants.
    Results: Overall, 460 Bangladeshi children and 98 adults with AE were recruited. Burden of care, extra housework and emotional distress were the highest affected domains in parental QoL, while itching and sleep were the highest for children. Significant factors influencing FDLQI score were EASI [marginal effect (ME) 1.01, 95% confidence interval (CI) 1.00-1.03; P = 0.004], age (ME 0.98, 95% CI 0.97-0.99; P = 0.004), extensor eczema distribution (ME 1.25, 95% CI 1.03-1.52; P = 0.023), parental English fluency (ME 1.29, 95% CI 1.10-1.52; P = 0.002) and atopic comorbidities (ME 1.10, 95% CI 1.04-1.17; P = 0.001). Parental socioeconomic class was a nonsignificant factor. IDQOL/CDLQI was influenced significantly by the child's age (ME 0.99, 95% CI 0.97-1.00, P = 0.023), 'nonclear' eczema distribution clusters especially the 'severe extensive' cluster (ME 1.46, 95% CI 1.15-1.84; P = 0.002) and nonsignificantly by EASI and parental English literacy and socioeconomic levels. DLQI was affected significantly by nonclear eczema distribution groups especially 'severe extensive' (ME 2.49, 95% 1.76-3.53; P < 0.001) and nonsignificantly by patient age, and female sex.
    Conclusions: AE is a chronic disease where many external factors other than disease severity affect QoL of patients and their families, -especially in under-represented minority groups who face different linguistic and cultural barriers.
    MeSH term(s) Child ; Infant ; Young Adult ; Humans ; Female ; Dermatitis, Atopic/psychology ; Quality of Life ; Dermatology ; Cross-Sectional Studies ; London/epidemiology ; Severity of Illness Index ; Eczema ; Pruritus
    Language English
    Publishing date 2023-02-03
    Publishing country England
    Document type Journal Article
    ZDB-ID 80076-4
    ISSN 1365-2133 ; 0007-0963
    ISSN (online) 1365-2133
    ISSN 0007-0963
    DOI 10.1093/bjd/ljac131
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  6. Article ; Online: Diagnosis and Management of Inherited Palmoplantar Keratodermas.

    Thomas, Bjorn R / O'Toole, Edel A

    Acta dermato-venereologica

    2020  Volume 100, Issue 7, Page(s) adv00094

    Abstract: Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin. Palmoplantar keratodermas are grouped depending on the morphology of the keratoderma into ... ...

    Abstract Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin. Palmoplantar keratodermas are grouped depending on the morphology of the keratoderma into diffuse, focal/striate or papular/punctate. Some palmoplantar keratodermas just affect the skin of the palms and soles and others have associated syndromic features which include changes in hair, teeth, nails, hearing loss or cardiomyopathy. Next generation sequencing has helped discover genes involved in many of these conditions and has led to reclassification of some palmoplantar keratodermas. In this review, we discuss the diagnostic features of palmoplantar keratodermas and management options.
    MeSH term(s) Humans ; Keratoderma, Palmoplantar/diagnosis ; Keratoderma, Palmoplantar/genetics ; Keratoderma, Palmoplantar/therapy ; Keratoderma, Palmoplantar, Epidermolytic/diagnosis ; Keratoderma, Palmoplantar, Epidermolytic/genetics ; Keratoderma, Palmoplantar, Epidermolytic/therapy ; Mutation ; Phenotype
    Language English
    Publishing date 2020-03-25
    Publishing country Sweden
    Document type Journal Article ; Review
    ZDB-ID 80007-7
    ISSN 1651-2057 ; 0001-5555
    ISSN (online) 1651-2057
    ISSN 0001-5555
    DOI 10.2340/00015555-3430
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  7. Article ; Online: The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family.

    Steele, Lloyd / Tawfik, Soha S / O'Toole, Edel A

    The Journal of investigative dermatology

    2020  Volume 140, Issue 11, Page(s) 2111–2113

    Abstract: Mohamad et al. (2020) describe loss-of-function mutations in SERPINA12 as a cause of diffuse, transgradient palmoplantar keratoderma (PPK). This disorder shares similar clinical features with other PPKs caused by protease overactivity, including erythema, ...

    Abstract Mohamad et al. (2020) describe loss-of-function mutations in SERPINA12 as a cause of diffuse, transgradient palmoplantar keratoderma (PPK). This disorder shares similar clinical features with other PPKs caused by protease overactivity, including erythema, peeling, and exacerbation on water exposure. Understanding this disorder may shed further light on the role of proteases and their inhibitors in epidermal physiology.
    MeSH term(s) Epidermis ; Humans ; Keratoderma, Palmoplantar/genetics ; Mutation ; Peptide Hydrolases/genetics ; Proteolysis ; Serpins/genetics
    Chemical Substances SERPINA12 protein, human ; Serpins ; Peptide Hydrolases (EC 3.4.-)
    Language English
    Publishing date 2020-10-21
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 80136-7
    ISSN 1523-1747 ; 0022-202X
    ISSN (online) 1523-1747
    ISSN 0022-202X
    DOI 10.1016/j.jid.2020.06.031
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  8. Article ; Online: Prevalence and Characterization of Itch in Pachyonychia Congenita.

    Steele, Lloyd / Schwartz, Janice / Hansen, C David / O'Toole, Edel A

    JAMA dermatology

    2021  Volume 157, Issue 11, Page(s) 1378–1380

    MeSH term(s) Humans ; Pachyonychia Congenita/complications ; Pachyonychia Congenita/diagnosis ; Pachyonychia Congenita/epidemiology ; Prevalence ; Pruritus/epidemiology ; Pruritus/etiology
    Language English
    Publishing date 2021-09-01
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 2701761-8
    ISSN 2168-6084 ; 2168-6068
    ISSN (online) 2168-6084
    ISSN 2168-6068
    DOI 10.1001/jamadermatol.2021.3335
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  9. Article ; Online: Safety outcomes for topical corticosteroid use in eczema herpeticum: a single-centre retrospective cohort study.

    Steele, Lloyd / Innes, Stuart / Oldham, Jaimie / Cunningham, Malvina / Dhoat, Sasha / McDonald, Bryan / O'Toole, Edel A

    The British journal of dermatology

    2023  Volume 188, Issue 2, Page(s) 295–297

    MeSH term(s) Humans ; Kaposi Varicelliform Eruption/drug therapy ; Retrospective Studies ; Hospitalization ; Adrenal Cortex Hormones/adverse effects ; Glucocorticoids/adverse effects ; Dermatologic Agents ; Eczema/drug therapy
    Chemical Substances Adrenal Cortex Hormones ; Glucocorticoids ; Dermatologic Agents
    Language English
    Publishing date 2023-02-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 80076-4
    ISSN 1365-2133 ; 0007-0963
    ISSN (online) 1365-2133
    ISSN 0007-0963
    DOI 10.1093/bjd/ljac051
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  10. Article ; Online: Flooding and Climate Change and its Effect on Skin Disease.

    Junejo, Muhammad H / Khan, Sidra / Larik, Ehsan A / Akinkugbe, Ayesha / O'Toole, Edel A / Sethi, Aisha

    The Journal of investigative dermatology

    2023  Volume 143, Issue 8, Page(s) 1348–1350

    MeSH term(s) Humans ; Climate Change ; Floods ; Skin Diseases/epidemiology ; Skin Diseases/etiology
    Language English
    Publishing date 2023-04-08
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80136-7
    ISSN 1523-1747 ; 0022-202X
    ISSN (online) 1523-1747
    ISSN 0022-202X
    DOI 10.1016/j.jid.2023.02.024
    Database MEDical Literature Analysis and Retrieval System OnLINE

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