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  1. Article: Initial use of subcutaneous plasma-derived C1 inhibitor in prophylaxis of acute attacks of hereditary angioedema in pregnant patients in Slovakia.

    Hrubišková, Katarína / Jeseňák, Miloš / Payer, Juraj

    Vnitrni lekarstvi

    2023  Volume 69, Issue 4, Page(s) 265–268

    Abstract: Hereditary angioedema (HAE) is a rare, inborn disease manifested with recurrent attacks of angioedema. They can affect the skin and subcutaneous tissue, mucous membranes (gastrointestinal, respiratory, and uropoietic tracts), and submucous tissue. Women ... ...

    Title translation Prvé použitie podkožného C1 inhibítora v profylaxii atakov hereditárneho angioedému u tehotných pacientok na Slovensku.
    Abstract Hereditary angioedema (HAE) is a rare, inborn disease manifested with recurrent attacks of angioedema. They can affect the skin and subcutaneous tissue, mucous membranes (gastrointestinal, respiratory, and uropoietic tracts), and submucous tissue. Women in reproductive age require specific management of the disease regarding both the course of the disease and treatment options. It is not only the treatment in female patients that is specific, but also the situations (pregnancy, breastfeeding). We present a case report of the initial use of a subcutaneous C1 inhibitor in the long-term prophylaxis of HAE attacks in two pregnant patients.
    MeSH term(s) Pregnancy ; Humans ; Female ; Angioedemas, Hereditary/drug therapy ; Angioedemas, Hereditary/prevention & control ; Subcutaneous Tissue ; Slovakia ; Angioedema
    Language English
    Publishing date 2023-06-09
    Publishing country Czech Republic
    Document type Case Reports ; Journal Article
    ZDB-ID 138213-5
    ISSN 1801-7592 ; 0042-773X
    ISSN (online) 1801-7592
    ISSN 0042-773X
    DOI 10.36290/vnl.2023.050
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: What is hiden behind autoinflammation?

    Hrubišková, Katarína / Jeseňák, Miloš / Payer, Juraj

    Vnitrni lekarstvi

    2020  Volume 66, Issue 3, Page(s) 35–43

    Abstract: Autoinflammatory diseases represent a group of disorders that are distinct from autoimmune diseases, infections and malignancies. They are characterised by attacks of unprovoked noninfectious inflammation. A key feature of autoinflammatory diseases is ... ...

    Title translation Čo sa skrýva za autoinflamáciou?
    Abstract Autoinflammatory diseases represent a group of disorders that are distinct from autoimmune diseases, infections and malignancies. They are characterised by attacks of unprovoked noninfectious inflammation. A key feature of autoinflammatory diseases is dysregulation of innate immune system and overproduction of pro-inflammatory cytokines. The best-characterized group of autoinflammatory diseases arises from mutations in single genes. They are typically manifested by recurrent attacks of fever and serositis as well as arthralgia, myalgia and skin exanthema.
    MeSH term(s) Autoimmune Diseases/genetics ; Cytokines ; Fever ; Hereditary Autoinflammatory Diseases/genetics ; Humans ; Inflammation
    Chemical Substances Cytokines
    Language English
    Publishing date 2020-09-25
    Publishing country Czech Republic
    Document type Journal Article
    ZDB-ID 138213-5
    ISSN 1801-7592 ; 0042-773X
    ISSN (online) 1801-7592
    ISSN 0042-773X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in

    Markocsy, Adam / Hrubiskova, Katarina / Hrubisko, Martin / Freiberger, Tomas / Grombirikova, Hana / Dolesova, Lenka / Slivka Vavrova, Ludmila / Lohajova Behulova, Regina / Ondrusova, Martina / Banovcin, Peter / Vorcakova, Karolina / Jesenak, Milos

    The World Allergy Organization journal

    2024  Volume 17, Issue 3, Page(s) 100885

    Abstract: Background: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterised by acute episodes of non-pruritic skin and submucosal swelling caused by increase in vascular permeability.: Objective: Here we present the first ... ...

    Abstract Background: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterised by acute episodes of non-pruritic skin and submucosal swelling caused by increase in vascular permeability.
    Objective: Here we present the first complex analysis of the National HAE Slovakian cohort with the detection of 12 previously un-published genetic variants in
    Methods: In patients diagnosed with hereditary angioedema caused by deficiency or dysfunction of C1 inhibitor (C1-INH-HAE) based on clinical manifestation and complement measurements,
    Results: The Slovakian national cohort consisted of 132 living patients with confirmed HAE. We identified 51 index cases (32 families, 19 sporadic patients/112 adults, 20 children). One hundred seventeen patients had HAE caused by deficiency of C1 inhibitor (C1-INH-HAE-1) and 15 patients had HAE caused by dysfunction of C1 inhibitor (C1-INH-HAE-2). The prevalence of HAE in Slovakia has recently been calculated to 1:41 280 which is higher than average calculated prevalence. The estimated incidence was 1:1360 000. Molecular-genetic testing of the
    Conclusion: The first complex report about epidemiology and genetics of the Slovakian national HAE cohort expands the knowledge of the C1-INH-HAE genetics. Twelve novel causal variants were present in the half of the index cases. A higher percentage of inframe variants comparing to other studies was observed. Heterozygous deletion of exon 3 found in a large C1-INH-HAE-1 family probably causes the dysregulation of the splicing isoforms balance and leads to the decrease of full-length C1-INH level.
    Language English
    Publishing date 2024-03-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2581968-9
    ISSN 1939-4551
    ISSN 1939-4551
    DOI 10.1016/j.waojou.2024.100885
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Weber-Christian disease: a case report.

    Brázdilová, Kristína / Čierny, Daniel / Hrubišková, Katarína / Plank, Lukáš / Killinger, Zdenko / Payer, Juraj

    Vnitrni lekarstvi

    2019  Volume 64, Issue 10, Page(s) 961–965

    Abstract: Weber-Christian disease is a rare disease from the group of chronic fibrosing conditions characterized by inflamma-tion of the adipose tissue - panniculitis and fibrosing with frequent systemic manifestations. Etiopathogenesis of the disease is not fully ...

    Title translation Weberova-Christianova choroba: kazuistika.
    Abstract Weber-Christian disease is a rare disease from the group of chronic fibrosing conditions characterized by inflamma-tion of the adipose tissue - panniculitis and fibrosing with frequent systemic manifestations. Etiopathogenesis of the disease is not fully known, participation of autoimmune mechanisms is anticipated. Here, we report a case of a patient with this rare disease, diagnosed after a long and demanding diagnostic process, including repeated lapa-rotomies. However, after immunosuppressive therapy, clinical and laboratory symptomatology improved rapidly as well as the patients quality of life. Key words: panniculitis - sclerosing mesenteritis - Weber-Christian disease.
    MeSH term(s) Humans ; Panniculitis, Nodular Nonsuppurative/diagnosis ; Panniculitis, Nodular Nonsuppurative/therapy
    Language English
    Publishing date 2019-01-15
    Publishing country Czech Republic
    Document type Case Reports ; Journal Article
    ZDB-ID 138213-5
    ISSN 1801-7592 ; 0042-773X
    ISSN (online) 1801-7592
    ISSN 0042-773X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Recombinant human C1 esterase inhibitor for hereditary angioedema attacks: A European registry.

    Valerieva, Anna / Staevska, Maria T / Grivcheva-Panovska, Vesna / Jesenak, Milos / Kőhalmi, Kinga Viktória / Hrubiskova, Katarina / Zanichelli, Andrea / Bellizzi, Luca / Relan, Anurag / Hakl, Roman / Farkas, Henriette

    The World Allergy Organization journal

    2021  Volume 14, Issue 4, Page(s) 100535

    Abstract: Background: Hereditary angioedema (HAE) due to C1 esterase inhibitor deficiency (C1-INH-HAE) is characterized by recurrent swelling attacks. A European treatment registry was established to review the adverse event profile and efficacy of recombinant ... ...

    Abstract Background: Hereditary angioedema (HAE) due to C1 esterase inhibitor deficiency (C1-INH-HAE) is characterized by recurrent swelling attacks. A European treatment registry was established to review the adverse event profile and efficacy of recombinant human C1 esterase inhibitor (rhC1-INH) for HAE attacks.
    Methods: Individuals with C1-INH-HAE were enrolled following a decision to treat with rhC1-INH and provision of written informed consent. Medical history and baseline HAE information were collected at screening. Healthcare providers entered data on HAE attacks, response to treatment, and adverse events using a web-based questionnaire.
    Results: From July 1, 2011, through December 1, 2019, 71 patients with C1-INH-HAE (30 male/41 female; mean age, 47.3 years; age range, 19-78 years) in 9 countries reported 2356 attacks and were treated with rhC1-INH. Before registry entry, patients, including 20 (28.2%) who were on maintenance therapy/prophylaxis at registry enrollment, experienced a mean of 25 HAE attacks per year (median, 16 [range, 0-185]). Most treated HAE attacks were abdominal (46.1%), followed by peripheral (38.3%), oro-facial-pharyngeal (14.8%), urogenital (3.2%), and laryngeal (2.6%). The mean rhC1-INH dose was 3307 U (43.3 U/kg). Patients reported symptom improvement within 4 h for 97.8% of attacks (2305/2356) with rhC1-INH; most attacks (99.8%; 2351/2356) required only 1 dose. Five attacks were treated with a second dose (total rhC1-INH dose administered for attack, 4200 U). No hypersensitivity, thrombotic/thromboembolic events, or drug-related serious adverse events were reported.
    Conclusion: The rhC1-INH treatment registry provided real-world data on the treatment of 2356 HAE attacks that were consistent with clinical trial data of rhC1-INH in patients with C1-INH-HAE.
    Language English
    Publishing date 2021-04-22
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2581968-9
    ISSN 1939-4551
    ISSN 1939-4551
    DOI 10.1016/j.waojou.2021.100535
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Recombinant human C1 esterase inhibitor as short-term prophylaxis in patients with hereditary angioedema.

    Valerieva, Anna / Staevska, Maria / Jesenak, Milos / Hrubiskova, Katarina / Sobotkova, Marta / Zachova, Radana / Hakl, Roman / Andrejevic, Sladjana / Suiter, Tobias / Grivcheva-Panovska, Vesna / Karadza-Lapic, Ljerka / Soteres, Daniel / Shapiro, Ralph / Rumbyrt, Jeffrey / Tachdjian, Raffi / Mehta, Vinay / Hsu, F Ida / Zanichelli, Andrea

    The journal of allergy and clinical immunology. In practice

    2019  Volume 8, Issue 2, Page(s) 799–802

    MeSH term(s) Angioedemas, Hereditary/drug therapy ; Angioedemas, Hereditary/prevention & control ; Complement C1 Inactivator Proteins ; Complement C1 Inhibitor Protein/therapeutic use ; Esterases ; Humans ; Recombinant Proteins
    Chemical Substances Complement C1 Inactivator Proteins ; Complement C1 Inhibitor Protein ; Recombinant Proteins ; Esterases (EC 3.1.-)
    Language English
    Publishing date 2019-08-19
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2843237-X
    ISSN 2213-2201 ; 2213-2198
    ISSN (online) 2213-2201
    ISSN 2213-2198
    DOI 10.1016/j.jaip.2019.08.011
    Database MEDical Literature Analysis and Retrieval System OnLINE

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