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  1. 1661
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    Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy by Joanna Wanat, Wojciech Homa, Aleksandra Warunek, Gabriela Gronowicz, Izabela Dzikowska, Agata Siejka, Daria Stefaniak, Weronika Zielińska, Michał Chról

    Published 2025-02-01
    “…Among the promising new treatments are: blood-brain barrier (BBB)-penetrable enzyme replacement therapy (ERT), substrate reduction therapy, nonsense suppression therapy, and mRNA engineering. However, the most advanced treatments, that are currently under investigation are in-vivo and ex-vivo gene therapy. …”
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  3. 1663

    Perceptions and reflections of embryo donation recipients: a qualitative follow-up study by Seungho Lee, Salomeh Salari, Mona El-Gayar, Joshua Mangels, Rebecca Flyckt, Jody Madeira, Susan Klock, Steven R Lindheim

    Published 2025-01-01
    “…As respondents identified largely as Christian/Catholic, further studies are warranted to assess the perceptions of a more diverse and generalisable population of recipients and children born via embryo donation.…”
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  4. 1664

    Fabrication of Cu: ZnO thin film sensor for ethanol vapor detection by Robin Simkhada, Dalton R. Gibbs, Soma Dhakal, Dipak Oli, Rishi Ram Ghimire, Deependra Das Mulmi, Leela Pradhan Joshi

    Published 2025-01-01
    “… For a long time, metal oxide semiconductor (MOS) based gas sensors have been widely used in domestic, commercial, and industrial sectors to detect harmful gases. …”
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    Article
  5. 1665

    Outcomes following immunosuppressive therapy withdrawal after complete renal response in proliferative lupus nephritis by Javier Narváez, Francesca Mitjavila, Joan M Nolla, Paola Vidal-Montal, Montserrat Gomà, Xavier Fulladosa, Olga Capdevila, Joan Torras

    Published 2025-01-01
    “…In contrast, an IST duration exceeding 48 months prior to discontinuation (HR: 0.26), maintaining CRR for at least 48 months (HR: 0.32), achieving complete remission per DORIS (definition of remission in systemic lupus erythematosus) criteria at IST withdrawal (HR: 0.21) and gradual IST tapering (HR: 0.09) were associated with a reduced risk of RR.Following reintroduction of IST, 20 out of 29 patients (68.9%) achieved CRR, 5 (17.2%) achieved a partial response and 4 (13.8%) did not respond; of these, 3 patients (10.3%) progressed to end-stage renal disease.Conclusions Successful withdrawal of IST is possible in carefully selected patients with proliferative LN. If an RR occurs, most patients are able to remain in remission after resuming IST.…”
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  6. 1666

    Quinoline and Quinazoline Alkaloids against COVID-19: An In Silico Multitarget Approach by Esraa M. O. A. Ismail, Shaza W. Shantier, Mona S. Mohammed, Hassan H. Musa, Wadah Osman, Ramzi A. Mothana

    Published 2021-01-01
    “…Although, recently, vaccines have been approved for the prevention of COVID-19, there is still an urgent need for the discovery of more efficacious and safer drugs especially from natural sources. …”
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  7. 1667

    Biological effectiveness of combined exposure to neutrons and gamma radiation applied in two orders of sequence: Relevance for biological dosimetry after nuclear emergencies by Tomas Palmqvist, Milagrosa Lopez-Riego, Martin Bucher, Ursula Oestreicher, Stefan Pojtinger, Ulrich Giesen, Iuliana Toma-Dasu, Andrzej Wojcik

    Published 2025-02-01
    “…Methods: Whole blood from 3 human donors was exposed to neutrons with an energy spectrum similar to that of the Hiroshima uranium bomb, to gamma radiation from a 60Co source and to a 50:50 combination of both radiations, given in two orders of sequence. …”
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  8. 1668

    Invasive Pulmonary Aspergillosis with Disseminated Infection in Immunocompetent Patient by Gabriel Moreno-González, Antoni Ricart de Mesones, Rachid Tazi-Mezalek, Maria Teresa Marron-Moya, Antoni Rosell, Rafael Mañez

    Published 2016-01-01
    “…Here, we report a case of a 56 yr old previously healthy woman who was found unconscious at home and admitted to the emergency room with mild respiratory insufficiency. …”
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  9. 1669

    Immunodeficiency, Centromeric Instability, and Facial Dysmorphism (ICF) Syndrome: How HSCT alters the impairment of the DNA methylation process by Wojciech Homa, Joanna Wanat, Izabela Dzikowska, Agata Siejka, Daria Stefaniak, Aleksandra Warunek, Gabriela Gronowicz, Michał Chról, Weronika Zielińska

    Published 2025-02-01
    “…Advances in molecular biology and genetics enabled insights into the DNA methylation machinery, which allowed us to gain a more precise understanding of the pathogenesis of ICF and also opened up opportunities for the development of new therapeutic options. …”
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  11. 1671

    Intracranial pressure monitoring in patients with spontaneous onset of orthostatic headache by Linda D’Antona, Sanjay Cheema, Dwij Mehta, Fion Bremner, Laurence Dale Watkins, Ahmed Kassem Toma, Manjit Singh Matharu

    Published 2025-02-01
    “…Obvious CSF dynamics disturbances were excluded in the remaining 29 patients (76.3%, mean of the median 24-hour ICP 3 mmHg ± 3SD). The only clinical feature that was more common in patients with abnormal ICP compared to patients with normal ICP results was audiovestibular disturbance, namely aural fullness or muffled hearing (67% versus 17%, p = 0.015). …”
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  12. 1672

    Results of work of the maternal child program. University Pediatric Hospital of Cienfuegos, 2021 by Lairi García Ríos, Fernando de la Mora Martín, Milenys Acosta Fonseca, Antonio Masot Rangel, Claudia Beatríz Surí García

    Published 2022-07-01
    “…Hospital mortality increases by six more deaths compared to 2020, responding to the main cause of emergency care followed by Sepsis. …”
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  13. 1673

    Bacterial, fungal and parasitic co-infections in leprosy: A scoping review. by Luis Alberto Ribeiro Fróes, Tereza Setsuko Toma, Marie Jachiet, Laurie Rousset, Rosana Evangelista Poderoso, Maria Angela Bianconcini Trindade

    Published 2023-05-01
    “…<h4>Background</h4>In leprosy patients, the most commonly reported non-viral co-infections are Tuberculosis, Leishmaniasis, Chromoblastomycosis and Helminths. …”
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  15. 1675

    Fabrication of Cu: ZnO thin film sensor for ethanol vapor detection by Robin Simkhada, Dalton R. Gibbs, Soma Dhakal, Dipak Oli, Rishi Ram Ghimire, Deependra Das Mulmi, Leela Pradhan Joshi

    Published 2025-01-01
    “… For a long time, metal oxide semiconductor (MOS) based gas sensors have been widely used in domestic, commercial, and industrial sectors to detect harmful gases. …”
    Get full text
    Article
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  20. 1680

    Niños y adolescentes con enfermedades raras atendidos en consulta provincial de nutrición by Elsy Roxana Geroy Moya, María Elena Quiñones Hernández, María Dolores García Suárez, Leidy Sosa Águila, María Ocaña Gil

    Published 2019-02-01
    “…Los pacientes con las formas severas de desnutrición presentan una mayor expresividad de la sintomatología. …”
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