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  1. Article ; Online: Alzheimer’s Disease Risk Variant rs3865444 in the CD33 Gene

    Juraj Javor / Mária Bucová / Vladimíra Ďurmanová / Dominika Radošinská / Zuzana Párnická / Daniel Čierny / Egon Kurča / Daniela Čopíková-Cudráková / Karin Gmitterová / Ivana Shawkatová

    Life, Vol 12, Iss 7, p

    A Possible Role in Susceptibility to Multiple Sclerosis

    2022  Volume 1094

    Abstract: ... The aims of the study were to (1) investigate the association between Alzheimer’s disease-linked variant ...

    Abstract Polymorphisms in genes encoding receptors that modulate the activity of microglia and macrophages are attractive candidates for participation in genetic susceptibility to multiple sclerosis (MS). The aims of the study were to (1) investigate the association between Alzheimer’s disease-linked variant rs3865444:C>A in the CD33 gene and MS risk, (2) assess the effect of the strongest MS risk allele HLA-DRB1*15:01 on this association, and (3) analyze the correlation of rs3865444 with selected clinical phenotypes, i.e., age of onset and disease severity. CD33 rs3865444 was genotyped in a cohort of 579 patients and 1145 controls and its association with MS risk and clinical phenotypes was analyzed by logistic and linear regression analysis, respectively. Statistical evaluation revealed that rs3865444 reduces the risk of MS in the HLA-DRB1*15:01 -positive subpopulation but not in the cohort negative for HLA-DRB1*15:01 . A significant antagonistic epistasis between rs3865444 A and HLA-DRB1*15:01 alleles in the context of MS risk was detected by the interaction synergy factor analysis. Comparison of allele and genotype distribution between relapsing-remitting MS, secondary progressive MS, and control groups revealed that rs3865444 C to A substitution may also be associated with a decreased risk of transition of MS to its secondary progressive form, irrespective of the HLA-DRB1*15:01 carrier status. On the other hand, no correlation could be found between rs3865444 and the age of disease onset or MS severity score. Future studies are required to shed more light on the role of CD33 in MS pathogenesis.
    Keywords association ; CD33 ; multiple sclerosis ; polymorphism ; rs3865444 ; severity ; Science ; Q
    Subject code 610
    Language English
    Publishing date 2022-07-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Frequency-specific network activity predicts bradykinesia severity in Parkinson’s disease

    Muthuraman Muthuraman / Marcell Palotai / Borbála Jávor-Duray / Andrea Kelemen / Nabin Koirala / László Halász / Loránd Erőss / Gábor Fekete / László Bognár / Günther Deuschl / Gertrúd Tamás

    NeuroImage: Clinical, Vol 32, Iss , Pp 102857- (2021)

    2021  

    Abstract: ... in the basal ganglia-thalamo-cortical circuit in Parkinson’s disease. In this present cross-sectional study, we aimed ...

    Abstract Objective: Bradykinesia has been associated with beta and gamma band interactions in the basal ganglia-thalamo-cortical circuit in Parkinson’s disease. In this present cross-sectional study, we aimed to search for neural networks with electroencephalography whose frequency-specific actions may predict bradykinesia. Methods: Twenty Parkinsonian patients treated with bilateral subthalamic stimulation were first prescreened while we selected four levels of contralateral stimulation (0: OFF, 1–3: decreasing symptoms to ON state) individually, based on kinematics. In the screening period, we performed 64-channel electroencephalography measurements simultaneously with electromyography and motion detection during a resting state, finger tapping, hand grasping tasks, and pronation-supination of the arm, with the four levels of contralateral stimulation. We analyzed spectral power at the low (13–20 Hz) and high (21–30 Hz) beta frequency bands and low (31–60 Hz) and high (61–100 Hz) gamma frequency bands using the dynamic imaging of coherent sources. Structural equation modelling estimated causal relationships between the slope of changes in network beta and gamma activities and the slope of changes in bradykinesia measures. Results: Activity in different subnetworks, including predominantly the primary motor and premotor cortex, the subthalamic nucleus predicted the slopes in amplitude and speed while switching between stimulation levels. These subnetwork dynamics on their preferred frequencies predicted distinct types and parameters of the movement only on the contralateral side. Discussion: Concurrent subnetworks affected in bradykinesia and their activity changes in the different frequency bands are specific to the type and parameters of the movement; and the primary motor and premotor cortex are common nodes.
    Keywords Beta oscillation ; Gamma oscillation ; Bradykinesia ; Parkinson disease ; Deep brain stimulation ; Computer applications to medicine. Medical informatics ; R858-859.7 ; Neurology. Diseases of the nervous system ; RC346-429
    Language English
    Publishing date 2021-01-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
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  3. Article ; Online: Xanthine Derivatives as Agents Affecting Non-dopaminergic Neuroprotection in Parkinson`s Disease.

    Kasabova-Angelova, Alexandra / Tzankova, Diana / Mitkov, Javor / Georgieva, Maya / Tzankova, Virginia / Zlatkov, Alexander / Kondeva-Burdina, Magdalena

    Current medicinal chemistry

    2018  Volume 27, Issue 12, Page(s) 2021–2036

    Abstract: Parkinson's Disease (PD) is a neurodegenerative and debilitating disease that affects 1% of the elderly population. Patient's motor disability results in extreme difficulty to deal with daily activities. Conventional treatment is limited to dopamine ... ...

    Abstract Parkinson's Disease (PD) is a neurodegenerative and debilitating disease that affects 1% of the elderly population. Patient's motor disability results in extreme difficulty to deal with daily activities. Conventional treatment is limited to dopamine replacement therapy, which fails to delay disease's progression and is often associated with a number of adverse reactions. Recent progress in understanding the mechanisms involved in PD has revealed new molecular targets for therapeutic approaches. Among them, caffeine and xanthine derivatives are promising drug candidates, because of the possible symptomatic benefits in PD. In fact, consumption of coffee correlates with a reduced risk of PD. Over the last decades, a lot of efforts have been made to uncover the therapeutic potential of xanthine structures. The substituted xanthine molecule is used as a scaffold for the synthesis of new compounds with protective effects in neurodegenerative diseases, including PD, asthma, cancer and others. The administration of the xanthines has been proposed as a non-dopaminergic strategy for neuroprotection in PD and the mechanisms of protection have been associated with antagonism of adenosine A2A receptors and Monoamine Oxidase type B (MAO-B) inhibition. The current review summarizes frequently suspected non-dopaminergic neuroprotective mechanisms and the possible beneficial effects of the xanthine derivatives in PD, along with some synthetic approaches to produce perspective xanthine derivatives as non-dopaminergic agents in PD treatment.
    MeSH term(s) Disabled Persons ; Humans ; Monoamine Oxidase Inhibitors ; Motor Disorders ; Neuroprotection ; Neuroprotective Agents ; Parkinson Disease ; Xanthines
    Chemical Substances Monoamine Oxidase Inhibitors ; Neuroprotective Agents ; Xanthines
    Language English
    Publishing date 2018-08-20
    Publishing country United Arab Emirates
    Document type Journal Article
    ZDB-ID 1319315-6
    ISSN 1875-533X ; 0929-8673
    ISSN (online) 1875-533X
    ISSN 0929-8673
    DOI 10.2174/0929867325666180821153316
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  4. Article: Hypomelanotyc Basomelanocytic Tumor.

    Massone, Cesare / Javor, Sanja / Chiodi, Stefano / Sola, Simona

    Dermatology practical & conceptual

    2023  Volume 13, Issue 2

    Language English
    Publishing date 2023-04-01
    Publishing country Austria
    Document type Letter
    ZDB-ID 2685397-8
    ISSN 2160-9381
    ISSN 2160-9381
    DOI 10.5826/dpc.1302a68
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  5. Article: Anisakis simplex

    Javor, Sanja / Bignardi, Donatella / Borro, Matteo / Massone, Cesare

    Dermatology reports

    2023  Volume 16, Issue 1, Page(s) 9819

    Abstract: Acute or chronic infections have been described among causes of chronic urticaria (CU). Anisakidosis is a human disease caused by the ingestion of larval nematodes of the family Anisakidae. The infestation is acquired by eating raw seafood or undercooked ...

    Abstract Acute or chronic infections have been described among causes of chronic urticaria (CU). Anisakidosis is a human disease caused by the ingestion of larval nematodes of the family Anisakidae. The infestation is acquired by eating raw seafood or undercooked fish and squid. There are considerable variations in the frequency of underlying causes in the different studies and in different countries, such as differences in diets and the prevalence of infections.
    Language English
    Publishing date 2023-08-29
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2568735-9
    ISSN 2036-7406 ; 2036-7392
    ISSN (online) 2036-7406
    ISSN 2036-7392
    DOI 10.4081/dr.2023.9819
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  6. Article ; Online: Should we abandon the patient-specific instrumentation ship in total knee arthroplasty? Not quite yet!

    Török, László / Jávor, Péter / Hartmann, Petra / Bánki, László / Varga, Endre

    BMC musculoskeletal disorders

    2021  Volume 22, Issue 1, Page(s) 730

    Abstract: ... of the surgeon(s) should be taken into consideration, since PSI may not provide benefits for expert surgeons ...

    Abstract Patient-specific Instrumentation (PSI) is an innovative technique aiding the precise implementation of the preoperative plan during total knee arthroplasty (TKA) by using patient-specific guides and cutting blocks. Despite of the theoretical advantages, studies have reported contradictory results, thus there is no consensus regarding the overall effectiveness of PSI. Through the critical assessment of a meta-analysis published lately, this correspondence aims to highlight the complexity of comparing the efficacy of PSI to standard instrumentation (SI). The accuracy of component alignment, patient-reported outcome measures (PROMs), surgery time, blood loss, transfusion rate, and postoperative complications are commonly used outcomes for investigating the efficacy of PSI-aided TKA. By assessing component alignment, the expertise of the surgeon(s) should be taken into consideration, since PSI may not provide benefits for expert surgeons but might improve accuracy and patient safety during the learning curve of novice surgeons. With respect to PROMs and postoperative complications, PSI may not improve short-term results; however, long-term follow up data is missing. Regarding transfusion rates, favorable trends can be observed, but further studies utilizing recent data are needed for a clear conclusion. When assessing surgery time, we suggest focusing on operating room turnover instead of procedure time.
    MeSH term(s) Arthroplasty, Replacement, Knee/adverse effects ; Humans ; Knee Prosthesis ; Operative Time ; Patient Reported Outcome Measures ; Ships
    Language English
    Publishing date 2021-08-24
    Publishing country England
    Document type Journal Article ; Meta-Analysis
    ISSN 1471-2474
    ISSN (online) 1471-2474
    DOI 10.1186/s12891-021-04581-2
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  7. Article ; Online: Why not consider an endothelin receptor antagonist against SARS-CoV-2?

    Javor, S / Salsano, A

    Medical hypotheses

    2020  Volume 141, Page(s) 109792

    MeSH term(s) Anti-Inflammatory Agents/pharmacology ; Anti-Inflammatory Agents/therapeutic use ; Antiviral Agents/pharmacology ; Antiviral Agents/therapeutic use ; Betacoronavirus/physiology ; Bosentan/pharmacology ; Bosentan/therapeutic use ; COVID-19 ; Cells, Cultured ; Coronavirus Infections/drug therapy ; Coronavirus Infections/prevention & control ; Coronavirus Infections/virology ; Cytokines/metabolism ; Drug Evaluation, Preclinical ; Drug Therapy, Combination ; Endothelin A Receptor Antagonists/pharmacology ; Endothelin A Receptor Antagonists/therapeutic use ; Humans ; Models, Biological ; Pandemics/prevention & control ; Pneumonia, Viral/drug therapy ; Pneumonia, Viral/prevention & control ; Pneumonia, Viral/virology ; RNA, Viral/analysis ; Receptor, Endothelin A/physiology ; SARS-CoV-2 ; Valsartan/pharmacology ; Valsartan/therapeutic use ; Virus Diseases/drug therapy
    Chemical Substances Anti-Inflammatory Agents ; Antiviral Agents ; Cytokines ; Endothelin A Receptor Antagonists ; RNA, Viral ; Receptor, Endothelin A ; Valsartan (80M03YXJ7I) ; Bosentan (Q326023R30)
    Keywords covid19
    Language English
    Publishing date 2020-04-25
    Publishing country United States
    Document type Letter
    ZDB-ID 193145-3
    ISSN 1532-2777 ; 0306-9877
    ISSN (online) 1532-2777
    ISSN 0306-9877
    DOI 10.1016/j.mehy.2020.109792
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  8. Article ; Online: Dipropylamine for 9-Fluorenylmethyloxycarbonyl (Fmoc) Deprotection with Reduced Aspartimide Formation in Solid-Phase Peptide Synthesis.

    Personne, Hippolyte / Siriwardena, Thissa N / Javor, Sacha / Reymond, Jean-Louis

    ACS omega

    2023  Volume 8, Issue 5, Page(s) 5050–5056

    Abstract: Herein, we report dipropylamine (DPA) as a fluorenylmethyloxycarbonyl (Fmoc) deprotection reagent to strongly reduce aspartimide formation compared to piperidine (PPR) in high-temperature (60 °C) solid-phase peptide synthesis (SPPS). In contrast to PPR, ... ...

    Abstract Herein, we report dipropylamine (DPA) as a fluorenylmethyloxycarbonyl (Fmoc) deprotection reagent to strongly reduce aspartimide formation compared to piperidine (PPR) in high-temperature (60 °C) solid-phase peptide synthesis (SPPS). In contrast to PPR, DPA is readily available, inexpensive, low toxicity, and nonstench. DPA also provides good yields in SPPS of non-aspartimide-prone peptides and peptide dendrimers.
    Language English
    Publishing date 2023-01-23
    Publishing country United States
    Document type Journal Article
    ISSN 2470-1343
    ISSN (online) 2470-1343
    DOI 10.1021/acsomega.2c07861
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  9. Article: Genetic analysis of the Hungarian draft horse population using partial mitochondrial DNA D-loop sequencing.

    Csizmár, Nikolett / Mihók, Sándor / Jávor, András / Kusza, Szilvia

    PeerJ

    2018  Volume 6, Page(s) e4198

    Abstract: Background: The Hungarian draft is a horse breed with a recent mixed ancestry created in the 1920s by crossing local mares with draught horses imported from France and Belgium. The interest in its conservation and characterization has increased over the ...

    Abstract Background: The Hungarian draft is a horse breed with a recent mixed ancestry created in the 1920s by crossing local mares with draught horses imported from France and Belgium. The interest in its conservation and characterization has increased over the last few years. The aim of this work is to contribute to the characterization of the endangered Hungarian heavy draft horse populations in order to obtain useful information to implement conservation strategies for these genetic stocks.
    Methods: To genetically characterize the breed and to set up the basis for a conservation program, in the present study a hypervariable region of the mitochrondial DNA (D-loop) was used to assess genetic diversity in Hungarian draft horses. Two hundred and eighty five sequences obtained in our laboratory and 419 downloaded sequences available from Genbank were analyzed.
    Results: One hundred and sixty-four haplotypes and thirty-six polymorphic sites were observed. High haplotype and nucleotide diversity values (
    Discussion: Our samples showed a large intra- and interbreed variation. There was no clear clustering on the median joining network figure. The overall information collected in this work led us to consider that the genetic scenario observed for Hungarian draft breed is more likely the result of contributions from 'ancestrally' different genetic backgrounds. This study could contribute to the development of a breeding plan for Hungarian draft horses and help to formulate a genetic conservation plan, avoiding inbreeding while.
    Language English
    Publishing date 2018-01-31
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2703241-3
    ISSN 2167-8359
    ISSN 2167-8359
    DOI 10.7717/peerj.4198
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  10. Article ; Online: Overcoming Protein Orientation Mismatch Enables Efficient Nanoscale Light-Driven ATP Production.

    Amati, Andrea Marco / Moning, Stefan Urs / Javor, Sacha / Schär, Sandra / Deutschmann, Sabina / Reymond, Jean-Louis / von Ballmoos, Christoph

    ACS synthetic biology

    2024  Volume 13, Issue 4, Page(s) 1355–1364

    Abstract: Adenosine triphosphate (ATP)-producing modules energized by light-driven proton pumps are powerful tools for the bottom-up assembly of artificial cell-like systems. However, the maximum efficiency of such modules is prohibited by the random orientation ... ...

    Abstract Adenosine triphosphate (ATP)-producing modules energized by light-driven proton pumps are powerful tools for the bottom-up assembly of artificial cell-like systems. However, the maximum efficiency of such modules is prohibited by the random orientation of the proton pumps during the reconstitution process into lipid-surrounded nanocontainers. Here, we overcome this limitation using a versatile approach to uniformly orient the light-driven proton pump proteorhodopsin (pR) in liposomes. pR is post-translationally either covalently or noncovalently coupled to a membrane-impermeable protein domain guiding orientation during insertion into preformed liposomes. In the second scenario, we developed a novel bifunctional linker,
    MeSH term(s) Liposomes/metabolism ; Adenosine Triphosphate/metabolism ; Light ; Proton Pumps/metabolism ; Membrane Proteins/metabolism
    Chemical Substances Liposomes ; Adenosine Triphosphate (8L70Q75FXE) ; Proton Pumps ; Membrane Proteins
    Language English
    Publishing date 2024-04-03
    Publishing country United States
    Document type Journal Article
    ISSN 2161-5063
    ISSN (online) 2161-5063
    DOI 10.1021/acssynbio.4c00058
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