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  1. Article ; Online: Misdiagnosis of polymyositis in a young female patient with occult limb-girdle muscular dystrophy.

    Valor-Méndez, Lara / Türk, Matthias / Schett, Georg / Manger, Bernhard / Knitza, Johannes

    Rheumatology advances in practice

    2023  Volume 7, Issue 2, Page(s) rkad061

    Language English
    Publishing date 2023-07-11
    Publishing country England
    Document type Case Reports
    ISSN 2514-1775
    ISSN (online) 2514-1775
    DOI 10.1093/rap/rkad061
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  2. Article ; Online: Rare meets rarer: anti-synthetase syndrome in a patient with facio-scapulo-humeral muscular dystrophy.

    Valor-Méndez, Larissa / Manger, Bernhard / Winterholler, Martin / Schett, Georg / Türk, Mattias / Knitza, Johannes

    Rheumatology (Oxford, England)

    2022  Volume 61, Issue 12, Page(s) e368–e370

    MeSH term(s) Humans ; Muscular Dystrophies ; Musculoskeletal System ; Syndrome ; Humerus
    Language English
    Publishing date 2022-06-06
    Publishing country England
    Document type Journal Article
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/keac328
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  3. Article ; Online: A Glimpse of Molecular Biomarkers in Huntington’s Disease

    Silvia Martí-Martínez / Luis M. Valor

    International Journal of Molecular Sciences, Vol 23, Iss 5411, p

    2022  Volume 5411

    Abstract: Huntington’s disease (HD) is a devastating neurodegenerative disorder that is caused by an abnormal expansion of CAG repeats in the Huntingtin ( HTT ) gene. Although the main symptomatology is explained by alterations at the level of the central nervous ... ...

    Abstract Huntington’s disease (HD) is a devastating neurodegenerative disorder that is caused by an abnormal expansion of CAG repeats in the Huntingtin ( HTT ) gene. Although the main symptomatology is explained by alterations at the level of the central nervous system, predominantly affecting the basal ganglia, a peripheral component of the disease is being increasingly acknowledged. Therefore, the manifestation of the disease is complex and variable among CAG expansion carriers, introducing uncertainty in the appearance of specific signs, age of onset and severity of disease. The monogenic nature of the disorder allows a precise diagnosis, but the use of biomarkers with prognostic value is still needed to achieve clinical management of the patients in an individual manner. In addition, we need tools to evaluate the patient’s response to potential therapeutic approaches. In this review, we provide a succinct summary of the most interesting molecular biomarkers that have been assessed in patients, mostly obtained from body fluids such as cerebrospinal fluid, peripheral blood and saliva.
    Keywords polyglutamine ; huntingtin ; CSF ; plasma ; saliva ; NF-L ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Subject code 610
    Language English
    Publishing date 2022-05-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article: Successful treatment of refractory palmoplantar psoriasis in a psoriatic arthritis patient with the JAK inhibitor tofacitinib.

    Valor-Méndez, Larissa / Sticherling, Michael / Kleyer, Arnd / Schett, Georg

    Clinical and experimental rheumatology

    2020  Volume 39, Issue 1, Page(s) 228

    MeSH term(s) Arthritis, Psoriatic/drug therapy ; Humans ; Janus Kinase Inhibitors ; Piperidines ; Protein Kinase Inhibitors/adverse effects ; Psoriasis/drug therapy ; Pyrimidines/adverse effects ; Pyrroles/adverse effects
    Chemical Substances Janus Kinase Inhibitors ; Piperidines ; Protein Kinase Inhibitors ; Pyrimidines ; Pyrroles ; tofacitinib (87LA6FU830)
    Language English
    Publishing date 2020-08-05
    Publishing country Italy
    Document type Letter
    ZDB-ID 605886-3
    ISSN 1593-098X ; 0392-856X
    ISSN (online) 1593-098X
    ISSN 0392-856X
    DOI 10.55563/clinexprheumatol/xdcraa
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  5. Article ; Online: Acceptable risks of treatments to prevent rheumatoid arthritis among first-degree relatives: demographic and psychological predictors of risk tolerance.

    Simons, Gwenda / Janssen, Ellen M / Veldwijk, Jorien / DiSantostefano, Rachael L / Englbrecht, Matthias / Radawski, Christine / Valor-Méndez, Larissa / Humphreys, Jennifer H / Bruce, Ian N / Hauber, Brett / Raza, Karim / Falahee, Marie

    RMD open

    2023  Volume 8, Issue 2

    Abstract: Objectives: To quantify tolerance to risks of preventive treatments among first-degree relatives (FDRs) of patients with rheumatoid arthritis (RA).: Methods: Preventive treatments for RA are under investigation. In a preference survey, adult FDRs ... ...

    Abstract Objectives: To quantify tolerance to risks of preventive treatments among first-degree relatives (FDRs) of patients with rheumatoid arthritis (RA).
    Methods: Preventive treatments for RA are under investigation. In a preference survey, adult FDRs assumed a 60% chance of developing RA within 2 years and made choices between no treatment and hypothetical preventive treatment options with a fixed level of benefit (reduction in chance of developing RA from 60% to 20%) and varying levels of risks. Using a probabilistic threshold technique, each risk was increased or decreased until participants switched their choice. Perceived risk of RA, health literacy, numeracy, Brief Illness Perception Questionnaire and Beliefs about Medicines Questionnaire-General were also assessed. Maximum acceptable risk (MAR) was summarised using descriptive statistics. Associations between MARs and participants' characteristics were assessed using interval regression with effects coding.
    Results: 289 FDRs (80 male) responded. The mean MAR for a 40% reduction in chance of developing RA was 29.08% risk of mild side effects, 9.09% risk of serious infection and 0.85% risk of a serious side effect. Participants aged over 60 years were less tolerant of serious infection risk (mean MAR ±2.06%) than younger participants. Risk of mild side effects was less acceptable to participants who perceived higher likelihood of developing RA (mean MAR ±3.34%) and more acceptable to those believing that if they developed RA it would last for a long time (mean MAR ±4.44%).
    Conclusions: Age, perceived chance of developing RA and perceived duration of RA were associated with tolerance to some risks of preventive RA therapy.
    MeSH term(s) Adult ; Humans ; Male ; Middle Aged ; Aged ; Arthritis, Rheumatoid/epidemiology ; Arthritis, Rheumatoid/etiology ; Arthritis, Rheumatoid/prevention & control ; Antirheumatic Agents/therapeutic use ; Demography
    Chemical Substances Antirheumatic Agents
    Language English
    Publishing date 2023-01-03
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2812592-7
    ISSN 2056-5933 ; 2056-5933
    ISSN (online) 2056-5933
    ISSN 2056-5933
    DOI 10.1136/rmdopen-2022-002593
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  6. Article ; Online: Contrary immediate effect of abatacept on skin and joint manifestations in psoriatic arthritis.

    Valor-Méndez, Larissa / Kleyer, Arnd / Schett, Georg / Manger, Bernhard / Sticherling, Michael

    Rheumatology (Oxford, England)

    2021  Volume 60, Issue 9, Page(s) e312–e313

    MeSH term(s) Abatacept/administration & dosage ; Abatacept/adverse effects ; Antirheumatic Agents/administration & dosage ; Arthritis, Psoriatic/drug therapy ; Dermatitis, Exfoliative/chemically induced ; Dermatitis, Exfoliative/drug therapy ; Humans ; Male ; Middle Aged ; Symptom Flare Up
    Chemical Substances Antirheumatic Agents ; Abatacept (7D0YB67S97)
    Language English
    Publishing date 2021-02-17
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/keab206
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  7. Article ; Online: Retinal dysfunction in Huntington's disease mouse models concurs with local gliosis and microglia activation.

    Cano-Cano, Fátima / Martín-Loro, Francisco / Gallardo-Orihuela, Andrea / González-Montelongo, María Del Carmen / Ortuño-Miquel, Samanta / Hervás-Corpión, Irati / de la Villa, Pedro / Ramón-Marco, Lucía / Navarro-Calvo, Jorge / Gómez-Jaramillo, Laura / Arroba, Ana I / Valor, Luis M

    Scientific reports

    2024  Volume 14, Issue 1, Page(s) 4176

    Abstract: Huntington's disease (HD) is caused by an aberrant expansion of CAG repeats in the HTT gene that mainly affects basal ganglia. Although striatal dysfunction has been widely studied in HD mouse models, other brain areas can also be relevant to the ... ...

    Abstract Huntington's disease (HD) is caused by an aberrant expansion of CAG repeats in the HTT gene that mainly affects basal ganglia. Although striatal dysfunction has been widely studied in HD mouse models, other brain areas can also be relevant to the pathology. In this sense, we have special interest on the retina as this is the most exposed part of the central nervous system that enable health monitoring of patients using noninvasive techniques. To establish the retina as an appropriate tissue for HD studies, we need to correlate the retinal alterations with those in the inner brain, i.e., striatum. We confirmed the malfunction of the transgenic R6/1 retinas, which underwent a rearrangement of their transcriptome as extensive as in the striatum. Although tissue-enriched genes were downregulated in both areas, a neuroinflammation signature was only clearly induced in the R6/1 retina in which the observed glial activation was reminiscent of the situation in HD patient's brains. The retinal neuroinflammation was confirmed in the slow progressive knock-in zQ175 strain. Overall, these results demonstrated the suitability of the mouse retina as a research model for HD and its associated glial activation.
    MeSH term(s) Mice ; Animals ; Humans ; Huntington Disease/pathology ; Mice, Transgenic ; Gliosis/genetics ; Gliosis/pathology ; Microglia/metabolism ; Neuroinflammatory Diseases ; Disease Models, Animal ; Corpus Striatum/metabolism ; Huntingtin Protein/genetics ; Huntingtin Protein/metabolism
    Chemical Substances Huntingtin Protein
    Language English
    Publishing date 2024-02-20
    Publishing country England
    Document type Journal Article
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-024-54347-8
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  8. Article ; Online: VEXAS syndrome mimicking lupus-like disease.

    Valor-Méndez, Larissa / Sticherling, Michael / Zeschick, Martin / Atreya, Raja / Schmidt, F Daniela / Waldfahrer, Frank / Saake, Marc / Hüffmeier, Ulrike / Schett, Georg / Rech, Jürgen

    Rheumatology (Oxford, England)

    2023  Volume 62, Issue 9, Page(s) e271–e272

    MeSH term(s) Humans ; Skin Diseases, Genetic/diagnosis ; Myelodysplastic Syndromes/diagnosis ; Diagnosis, Differential
    Language English
    Publishing date 2023-02-15
    Publishing country England
    Document type Case Reports ; Letter
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/kead076
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  9. Article ; Online: PRECORSE study: Seroprevalence of severe acute respiratory syndrome coronavirus 2 in the first trimester of pregnancy during the first wave of the COVID-19 pandemic and subsequent pregnancy complications-A cohort study.

    Aquise, Adriana / Rayo, Nieves / Fernández-Buhigas, Irene / Alfonso, Ana / Pagola, Natalia / Rodriguez, Miguel / de Miguel, Laura / Santacruz, Irene / Valor, Santiago / Poon, Liona C / Gil, María M / Santacruz, Belén

    International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics

    2023  Volume 163, Issue 1, Page(s) 326–328

    MeSH term(s) Female ; Pregnancy ; Humans ; SARS-CoV-2 ; COVID-19 ; Cohort Studies ; Pregnancy Trimester, First ; Seroepidemiologic Studies ; Pandemics ; Antibodies, Viral
    Chemical Substances Antibodies, Viral
    Language English
    Publishing date 2023-08-08
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80149-5
    ISSN 1879-3479 ; 0020-7292
    ISSN (online) 1879-3479
    ISSN 0020-7292
    DOI 10.1002/ijgo.15027
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  10. Article ; Online: Massive nodulous lesions on hands and feet in a RA patient and improvement under baricitinib treatment.

    Valor-Méndez, Larissa / Hagen, Melanie / Kleyer, Arnd / Manger, Bernhard / Schett, Georg

    RMD open

    2020  Volume 6, Issue 3

    MeSH term(s) Arthritis, Rheumatoid/drug therapy ; Azetidines/therapeutic use ; Humans ; Purines/therapeutic use ; Pyrazoles/therapeutic use ; Sulfonamides/therapeutic use
    Chemical Substances Azetidines ; Purines ; Pyrazoles ; Sulfonamides ; baricitinib (ISP4442I3Y)
    Language English
    Publishing date 2020-11-19
    Publishing country England
    Document type Journal Article
    ZDB-ID 2812592-7
    ISSN 2056-5933 ; 2056-5933
    ISSN (online) 2056-5933
    ISSN 2056-5933
    DOI 10.1136/rmdopen-2020-001493
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