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  1. Article: Serum concentration of angiopoietin-like protein 4 in patients with systemic sclerosis.

    Żółkiewicz, Jakub / Stochmal, Anna / Zaremba, Michał / Hoffmann, Aleksandra / Czuwara, Joanna / Rudnicka, Lidia

    Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego

    2021  Volume 49, Issue 289, Page(s) 28–31

    Abstract: Systemic sclerosis (SSc) is a connective tissue disease characterized by endothelial cell damage, perivascular inflammation and tissue hypoxia. Angiopoietin-like protein 4 (ANGPTL4) has been demonstrated to affect vascular permeability, inflammation and ... ...

    Abstract Systemic sclerosis (SSc) is a connective tissue disease characterized by endothelial cell damage, perivascular inflammation and tissue hypoxia. Angiopoietin-like protein 4 (ANGPTL4) has been demonstrated to affect vascular permeability, inflammation and oxidative stress, thus may contribute to SSc pathogenesis.
    Aim: The aim of the study was to evaluate serum ANGPTL4 in systemic sclerosis and correlate it with disease subtype (localized and diffuse, lcSSc and dcSSc respectively), disease duration, skin fibrosis and internal organ involvement.
    Materials and methods: Twenty-two patients with systemic sclerosis (15 lcSSc, 7 dcSSc) and thirteen healthy controls were analyzed. Clinical and laboratory data were collected including modified Rodnan Skin Score (mRSS), Raynaud's phenomenon, disease duration, digital pitting scars, oesophageal involvement and interstitial lung disease. ANGPTL4 sera concentrations were measured by ELISA.
    Results: Patients with systemic sclerosis had lower ANGPTL4 serum levers in comparison to healthy controls, however without statistical significance (160.15 ± 117.53 vs. 127.15 ± 83.58 ng/ml; p=0.64). No association between ANGPTL4 levels and disease subtype, disease duration, severity of skin involvement (mRSS) and Raynaud's phenomenon onset was found.
    Conclusions: This is the first study evaluating the serum concentration of ANGPTL4 in patients with systemic sclerosis. This study contributes to still undetermined role of ANGPTL4 in the development or progression of systemic sclerosis. Therefore the role of ANGPTL4 in hypoxia-related diseases such as systemic sclerosis needs further research.
    MeSH term(s) Angiopoietin-Like Protein 4 ; Humans ; Lung Diseases, Interstitial ; Raynaud Disease/etiology ; Scleroderma, Diffuse ; Scleroderma, Systemic ; Skin
    Chemical Substances Angiopoietin-Like Protein 4
    Language English
    Publishing date 2021-03-09
    Publishing country Poland
    Document type Journal Article
    ZDB-ID 1388406-2
    ISSN 1426-9686
    ISSN 1426-9686
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.

    Hoffmann, Aleksandra / Waśkiel-Burnat, Anna / Żółkiewicz, Jakub / Blicharz, Leszek / Rakowska, Adriana / Goldust, Mohamad / Olszewska, Małgorzata / Rudnicka, Lidia

    Journal of clinical medicine

    2021  Volume 10, Issue 17

    Abstract: Pili torti is a rare condition characterized by the presence of the hair shaft, which is flattened at irregular intervals and twisted 180° along its long axis. It is a form of hair shaft disorder with increased fragility. The condition is classified into ...

    Abstract Pili torti is a rare condition characterized by the presence of the hair shaft, which is flattened at irregular intervals and twisted 180° along its long axis. It is a form of hair shaft disorder with increased fragility. The condition is classified into inherited and acquired. Inherited forms may be either isolated or associated with numerous genetic diseases or syndromes (e.g., Menkes disease, Björnstad syndrome, Netherton syndrome, and Bazex-Dupré-Christol syndrome). Moreover, pili torti may be a feature of various ectodermal dysplasias (such as Rapp-Hodgkin syndrome and Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome). Acquired pili torti was described in numerous forms of alopecia (e.g., lichen planopilaris, discoid lupus erythematosus, dissecting cellulitis, folliculitis decalvans, alopecia areata) as well as neoplastic and systemic diseases (such as cutaneous T-cell lymphoma, scalp metastasis of breast cancer, anorexia nervosa, malnutrition, cataracts, and chronic graft-vs.-host disease). The condition may also be induced by several drugs (epidermal growth factor receptor inhibitors, oral retinoids, sodium valproate, and carbamide perhydrate). The diagnosis of pili torti is based on trichoscopic or microscopic examination. As pili torti is a marker of numerous congenital and acquired disorders, in every case, the search for the signs of underlying conditions is recommended.
    Language English
    Publishing date 2021-08-30
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm10173901
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Polymorphisms in the interleukin 4, interleukin 4 receptor and interleukin 13 genes and allergic phenotype: A case control study.

    Narożna, Beata / Hoffmann, Aleksandra / Sobkowiak, Paulina / Schoneich, Natalia / Bręborowicz, Anna / Szczepankiewicz, Aleksandra

    Advances in medical sciences

    2015  Volume 61, Issue 1, Page(s) 40–45

    Abstract: Purpose: Interleukin 4 (IL4), interleukin 4 receptor (IL4R) and interleukin 13 (IL13) play a key role in the pathogenesis of allergy and asthma development. IL4 and IL13 strongly influence bronchial hyperreactivity in response to allergen, airway ... ...

    Abstract Purpose: Interleukin 4 (IL4), interleukin 4 receptor (IL4R) and interleukin 13 (IL13) play a key role in the pathogenesis of allergy and asthma development. IL4 and IL13 strongly influence bronchial hyperreactivity in response to allergen, airway remodeling, airway inflammation and airway smooth muscle proliferation. Both IL4 and IL13 exert biologic effect via interleukin 4 receptor. The aim of this study was to evaluate the impact of the polymorphisms within interleukin 4 (rs2243250, rs2227284), interleukin 4 receptor α chain (rs1805010, rs1805011) and interleukin 13 (rs20541) genes on the incidence of allergic phenotype in Polish pediatric population.
    Material/methods: We compared 177 asthmatic pediatric patients with 194 healthy children. Five polymorphisms within IL4, IL13 and IL4Rα genes were analyzed. Genotypes of four polymorphisms (rs2243250, rs2227284, rs1805011, rs20541) were assigned by TaqMan SNP Genotyping Assays (Applied Biosystems), whereas rs18050100 polymorphism was established using PCR-RFLP method.
    Results: We observed an association of rs1805011 polymorphism of IL4Rα gene with allergy (p=0.021), mild asthma (p=0.00005) and atopic dermatitis (p=0.0056). Significant correlation was found between rs20541 in IL-13 gene and the positive skin prick test results (p=0.029), along with rs2243250 polymorphism with clinical atopy (p=0.033) and rs2227284 with total IgE levels (p=0.00047). No associations were found for rs1805010.
    Conclusions: Our results indicate that rs1805011 polymorphism of IL4Rα gene seems to influence allergy risk, especially mild asthma and atopic dermatitis predisposition in Polish children. Subgroup analysis of three other SNPs revealed possible influence on allergy development.
    MeSH term(s) Adolescent ; Case-Control Studies ; Child ; Female ; Gene Frequency/genetics ; Genetic Predisposition to Disease ; Humans ; Hypersensitivity/blood ; Hypersensitivity/genetics ; Immunoglobulin E/blood ; Interleukin-13/blood ; Interleukin-13/genetics ; Interleukin-4/genetics ; Interleukin-4 Receptor alpha Subunit/genetics ; Male ; Phenotype ; Polymorphism, Single Nucleotide/genetics
    Chemical Substances IL13 protein, human ; IL4 protein, human ; IL4R protein, human ; Interleukin-13 ; Interleukin-4 Receptor alpha Subunit ; Interleukin-4 (207137-56-2) ; Immunoglobulin E (37341-29-0)
    Language English
    Publishing date 2015-08-08
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2273668-2
    ISSN 1898-4002 ; 1896-1126
    ISSN (online) 1898-4002
    ISSN 1896-1126
    DOI 10.1016/j.advms.2015.07.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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