Suchergebnisse - "наследственные заболевания"

Quelle: World of Medicine : Journal of Biomedical Sciences; Vol. 2 No. 7 (2025): World of Medicine : Journal of Biomedical Sciences; 63-68 ; 2960-9356

Schlagwörter: Наследственные заболевания сетчатки, генотерапия, CRISPR/Cas9

Dateibeschreibung: application/pdf

Relation: https://wom.semanticjournals.org/index.php/biomed/article/view/493/427; https://wom.semanticjournals.org/index.php/biomed/article/view/493

Verfügbarkeit: https://wom.semanticjournals.org/index.php/biomed/article/view/493

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7

Overview of International Neonatal Screening Programs ; Обзор международных программ неонатального скрининга

Autoren: Sergey V. Voronin Vitaly V. Omelyanovskiy Polina A. Mukhortova et al.

Weitere Verfasser: Sergey V. Voronin Vitaly V. Omelyanovskiy Polina A. Mukhortova et al.

Quelle: Pediatric pharmacology; Том 22, № 4 (2025); 395-405 ; Педиатрическая фармакология; Том 22, № 4 (2025); 395-405 ; 2500-3089 ; 1727-5776

Schlagwörter: общественное здравоохранение, hereditary diseases, enhanced neonatal screening, diagnosis, public healthcare, наследственные заболевания, расширенный неонатальный скрининг, диагностика

Dateibeschreibung: application/pdf

Relation: https://www.pedpharma.ru/jour/article/view/2673/1731; Донников М.Ю. Эффективность ранней диагностики муковисцидоза у детей на региональном уровне (на примере ХМАО — Югры): автореф. дис. . канд. мед. наук. — Пермь; 2020. — 22 с.; Малиевский О.А., Мурзабаева С.Ш., Климентьева М.М. Экономические аспекты неонатального скрининга на гипотиреоз // Проблемы эндокринологии. — 2006. — Т. 52. — № 5. — С. 1–5. — doi: https://doi.org/10.14341/probl20065251-5; Матулевич С.А. Массовый скрининг новорожденных на наследственные болезни обмена как часть системы медикогенетической помощи населению: дис. . докт. мед. наук. — М.; 2009. — 211 с.; Печатникова Н.Л. Захарова Е.Ю., Ижевская В.Л. Оценка клинико-экономической эффективности программ неонатального скрининга на наследственные болезни обмена веществ // Медицинская генетика. — 2020. — Т. 19. — № 10. — С. 4–9. — doi: https://doi.org/10.25557/2073-7998.2020.10.4-9; Александр Беглов: В Петербурге впервые в России запустят неонатальный скрининг новорожденных по редкой наследственной болезни обмена веществ // Администрация СанктПетербурга: официальный сайт. Доступно по: https://www.gov.spb.ru/press/governor/297739. Ссылка активна на 25 мая 2025.; Free newborn screening program. In: The State Support Programs Information Platform: Official website (In Arm). Available online: https://irazekum.am/event/view/213. Accessed on May 3, 2025.; Красовский И. Маленькие радости: в Минске запустили новый скрининг новорожденных // Точка: вебсайт. Доступно по: https://tochka.by/articles/life/malenkie_radosti_v_minske_zapustili_novyy_skrining_novorozhdennykh. Ссылка активна на 3 мая 2025.; О важности неонатального скрининга // 1-я городская клиническая больница: официальный сайт. [Доступно по: https://1gkb.by/home/information/vrachi-informiruyut/informiruet-vrach-ginekolog/o-vazhnostineonatalnogo-skrininga. Ссылка активна на 3 мая 2025.; Неонатальный скрининг: зачем он нужен и как проводится, рассказали в Алматы // Управление общественного здравоохранения города Алматы: официальный сайт. Доступно по: https://www.gov.kz/memleket/entities/almaty-densaulyk/press/news/details/951304. Ссылка активна на 3 мая 2025.; В Кыргызстане начали массовый скрининг детей на наследственные заболевания // SPUTNIK Кыргызстан: вебсайт. Доступно по: https://ru.sputnik.kg/20231027/kyrgyzstan-deti-zabolevaniyaskrining-1079933975.html. Ссылка активна на 3 мая 2025.; Newborn screening. In: Medical University of Vienna: Official website. Available online: https://kinder-jugendheilkunde.meduniwien.ac.at/en/about-us/newborn-screening. Accessed on May 25, 2025.; Österreichisches Neugeborenen-Screening. In: Medical University of Vienna: Official website. Available online: https://kinder-jugendheilkunde.meduniwien.ac.at/fileadmin/content/OE/Kinder_und_Jugendheilkunde/neugeborenenscreening/NGS_Folder_2022-v17.pdf. Accessed on May 25, 2025.; What is screened in the program. In: Australian Government Department of Health and Aged Care: Official website. Available online: https://www.health.gov.au/our-work/newborn-bloodspotscreening/what-is-screened. Accessed on May 25, 2025.; Newborn screening. In: NHS: Official website. Available online: https://www.nhs.uk/baby/newborn-screening. Accessed on May 25, 2025.; Neugeborenen-Screening auf angeborene Stoffwechselstörungen. In: AWMF: Official website. Available online: https://register.awmf.org/assets/guidelines/024-012l_S2k_Neugeborenenscreening_2022-02-abgelaufen.pdf. Accessed on May 25, 2025.; Neugeborenen-Screening zur Erkennung von Stoffwechselerkrankungen. In: Deutscher Bundestag: Official website. Available online: https://www.bundestag.de/resource/blob/1031516/52fe55e8a6663c9a3a628faa96080661/WD-8-075-24-pdf. Accessed on May 25, 2025.; ADA-SCID: in Abruzzo quasi 5.000 neonati già sottoposti a screening. In: Osservatorio Screening: Official website. Available online: https://www.osservatorioscreening.it/ada-scid-deficit-diaadc-e-sindrome-adrenogenitale-in-abruzzo-quasi-5-000-neonatigia-sottoposti-a-screening. Accessed on May 25, 2025.; Screening neonatale malattie metaboliche lisosomiali. In: Osservatorio Screening: Official website. Available online: https://www.osservatorioscreening.it/screening-neonatale-malattielisosomiali. Accessed on May 25, 2025.; Verso l’introduzione dello screening neonatale. In: Osservatorio Screening: Official website. Available online: https://www.osservatorioscreening.it/verso-lintroduzione-dello-screeningneonatale-per-la-leucodistrofia-metacromatica-in-emilia-romagna. Accessed on May 25, 2025.; Pannello patologie screening metabolico allargato. In: Osservatorio Screening: Official website. Available online: https://www.osservatorioscreening.it/pannello-malattie. Accessed on May 25, 2025.; Screening neonatale SMA. In: Osservatorio Screening: Official website. Available online: https://www.osservatorioscreening.it/screening-neonatale-sma-gia-attivo-in-sette-regioni-italianee-in-via-di-introduzione-in-altre-quattro. Accessed on May 25, 2025.; Newborn blood spot screening in the Netherlands. Monitor 2023. In: RIVM: Official website. Available online: https://www.pns.nl/sites/default/files/2025-02/HielprikMon2023-EN.pdf. Accessed on May 25, 2025.; Clinical picture %7C Pre- and neonatal screenings. In: RIVM: Official website. Available online: https://www.pns.nl/en/heel-prick/clinical-picture. Accessed on May 25, 2025.; Expansion of the heel prick. In: RIVM: Official website. Available online: https://www.pns.nl/hielprik/professionals/uitbreiding. Accessed on May 25, 2025.; Toward a Future Pan-Canadian Coordinated Approach for Newborn Screening. In: Canadian Medical Association: Official website. Available online: https://www.cda-amc.ca/sites/default/files/DRD/HC0079-NBS_Recommendations_Report.pdf. Accessed on May 25, 2025.; Newborn screening for spinal muscular atrophy. In: Haute Autorité de Santé: Official website. Available online: https://www.has-sante.fr/jcms/p_3451353/en/newbornscreening-for-spinal-muscular-atrophy-advance-assessmentof-extension-of-screening-to-the-general-population-in-france. Accessed on May 25, 2025.; Health Technology Assessment of the addition of SCID screening. In: Haute Autorité de Santé: Official website. Available online: https://www.hassante.fr/upload/docs/application/pdf/2022-04/summary_preliminary_assessment_of_universal_newborn_screening_for_severe_combined_immunodeficiency_by_trecs_quantification_i.pdf. Accessed on February 3, 2025.; Diseases and defects detected in screening tests. In: Polish Institute of Mother and Child: Official website. Available online: https://przesiew.imid.med.pl/choroby.html. Accessed on May 25, 2025.; Recommended Uniform Screening Panel. In: HRSA: Official website. Available online: https://newbornscreening.hrsa.gov/about-newborn-screening/recommended-uniform-screening-panel. Accessed on May 25, 2025.; Newborn Screening and Its Target Diseases. In: Japanese Society for Neonatal Screening: Official website. Available online: https://www.jsms.gr.jp/contents04-02.html. Accessed on May 25, 2025.; Explanation of Newborn Screening. In: Ministry of Health, Labour and Welfare (Japan): Official website. Available online: https://www.mhlw.go.jp/seisakunitsuite/bunya/kenkou_iryou/iryou/kokusai/setsumeisiryo/dl/en49.pdf. Accessed on May 25, 2025.; Status of Expanded Screening by Prefecture. In: Japanese Society for Neonatal Screening: Official website. Available online: https://www.jsms.gr.jp/download/3.Exp_Screening_list_241003(revised250226).pdf. Accessed on May 25, 2025.; https://www.pedpharma.ru/jour/article/view/2673

Verfügbarkeit: https://www.pedpharma.ru/jour/article/view/2673
https://doi.org/10.15690/pf.v22i4.2942

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RECKLINGHAUSEN'S DISEASE IN А PREGNANT WOMAN: A CLINICAL CASE ; БОЛЕЗНЬ РЕКЛИНГХАУЗЕНА У БЕРЕМЕННОЙ: КЛИНИЧЕСКИЙ СЛУЧАЙ

Autoren: Чайка, Владимир Кириллович Говоруха, Ирина Тихоновна Вустенко, Виталина Васильевна et al.

Quelle: Mother and Baby in Kuzbass; № 2 (2025): март; 114-120 ; Мать и Дитя в Кузбассе; № 2 (2025): март; 114-120 ; 2542-0968 ; 1991-010X

Schlagwörter: Recklinghausen's disease, neurofibromatosis, pregnancy, hereditary diseases, clinical case, болезнь Реклингхаузена, нейрофиброматоз, беременность, наследственные заболевания, клинический случай

Dateibeschreibung: application/pdf; text/html

Verfügbarkeit: http://mednauki.ru/index.php/MD/article/view/1244

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HEREDITARY DISEASES OCCURRING WITH LIVER DAMAGE (LECTURE)

Autoren: Elena Anatolievna Tkachuk Igor Zhanovich Seminsky

Quelle: Байкальский медицинский журнал, Vol 3, Iss 1, Pp 78-95 (2024)

Schlagwörter: наследственные заболевания печени, синдромы поражения печени, орфанные болезни, наследственные гепатопатии, Medicine (General), R5-920

Dateibeschreibung: electronic resource

Relation: https://www.bmjour.ru/jour/article/view/201; https://doaj.org/toc/2949-0715

Zugangs-URL: https://doaj.org/article/5471be350226442fa4eb8f0507ef9d35

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Изучение в школьном курсе биологии генных мутаций как причин наследственных заболеваний человека

Weitere Verfasser: Филинкова, Т. Н.

Schlagwörter: ШКОЛЬНЫЙ КУРС БИОЛОГИИ, ГЕННЫЕ МУТАЦИИ, НАСЛЕДСТВЕННЫЕ ЗАБОЛЕВАНИЯ, СТАРШИЕ ШКОЛЬНИКИ

Zugangs-URL: https://elar.uspu.ru/handle/ru-uspu/64009

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11

Virtual diagnosis of a combined pathology of the thyroid gland in a child with prolonged febrility ; Виртуальная диагностика сочетанной патологии щитовидной железы у ребенка с длительным фебрилитетом

Autoren: A. N. Putintsev M. P. Safonova D. A. Nikolsky et al.

Weitere Verfasser: A. N. Putintsev M. P. Safonova D. A. Nikolsky et al.

Quelle: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 4 (2024); 116-121 ; Российский вестник перинатологии и педиатрии; Том 69, № 4 (2024); 116-121 ; 2500-2228 ; 1027-4065

Schlagwörter: дистанционное обучение, rare diseases, hereditary diseases, virtual diagnosis, case based learning, e-learning, редкие болезни, наследственные заболевания, виртуальная диагностика, кейс-метод

Dateibeschreibung: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/2038/1522; Crowe S., Cresswell K., Robertson A., Huby G., Avery A., Sheikh A. The case study approach. BMC Med Res Methodol 2011; 11: 100. DOI:10.1186/1471–2288–11–100; Международный медицинский портал Univadis. Онлайн обучение [Электронный ресурс]. http://www.univadis.ru/e-learning#?f1=-1 / Ссылка активна на 15. 02. 2024; Interactive cases. University of Minnesota Medical School [Электронный ресурс]. https://med.umn.edu/dom/education/global-medicine/courses-certificates/online/interactive-cases / Ссылка активна на 15. 02. 2024.; Interactive Medical Case: The New England Journal of Medicine [Электронный ресурс]. http://www.nejm.org/multimedia/interactive-medical-case / Ссылка активна на 15. 02. 2024.; Путинцев А.Н., Воинова В.Ю., Горчханова З.К., Никольский Д.А., Гусев К.Я. Виртуальная диагностика в педиатрии: интерактивный клинический случай сочетания двух наследственных заболеваний. Российский вестник перинатологии и педиатрии 2022; 67(5): 103–108. DOI:10.21508/1027–4065–2022–67–5–103–108; Петеркова В.А., Безлепкина О.Б., Ширяева Т.Ю. и др. Клинические рекомендации «Врожденный гипотиреоз». Проблемы эндокринологии 2022; 68(2): 90–103. DOI:10.14341/probl12880; Интерактивный клинический случай. [Электронный ресурс]. http://edu.pedklin.ru/free_case/c010 / Ссылка активна на 20. 06. 2024.

Verfügbarkeit: https://www.ped-perinatology.ru/jour/article/view/2038
https://doi.org/10.21508/1027-4065-2024-69-4-116-121

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The results of the cross-sectional study of platelet aggregative function in children with hemorrhagic syndrome ; Результаты одномоментного исследования агрегационной функции тромбоцитов у детей с геморрагическим синдромом

Autoren: Olga B. Gordeeva Albina V. Dobrotok Mariia V. Volkova et al.

Weitere Verfasser: Olga B. Gordeeva Albina V. Dobrotok Mariia V. Volkova et al.

Quelle: Pediatric pharmacology; Том 21, № 1 (2024); 6-14 ; Педиатрическая фармакология; Том 21, № 1 (2024); 6-14 ; 2500-3089 ; 1727-5776

Schlagwörter: наследственные заболевания, children, pediatrics, aggregation, aggregometry, hemorrhage, hereditary diseases, дети, педиатрия, агрегация, агрегатометрия, кровотечения

Dateibeschreibung: application/pdf

Relation: https://www.pedpharma.ru/jour/article/view/2411/1563; Тавпуева Е.В., Ярковская А.П., Алексеенко А.В. и др. Уровень провоспалительных маркеров у больных инфарктом миокарда при разных видах двойной антитромбоцитарной терапии // Комплексные проблемы сердечно-сосудистых заболеваний. — 2017. — Т. 6. — № 4. — С. 27–35. — https://doi.org/10.17802/2306-1278-2017-6-4-27-3S; Aliotta A, Bertaggia Calderara D, Zermatten MG, et al. Thrombocytopathies: Not Just Aggregation Defects — The Clinical Relevance of Procoagulant Platelets. J Clin Med. 2021;10(5):894. https://doi.org/10.3390/jcm10050894; Кумскова М.А., Яструбинецкая О.И., Лихачева Е.А. и др. Особенности диагностики Бернара-Сулье // Гематология и трансфузиология. — 2016. — Т. 61. — № 4. — С. 217–221. — doi: https://doi.org/10.18821/0234-5730/2016-61-4217-221; Фёдорова Д.В., Жарков П.А., Плясунова С.А. и др. Диагностика врожденных нарушений функций тромбоцитов: современное состояние вопроса // Вопросы гематологии/ онкологии и иммунопатологии в педиатрии. — 2017. — Т. 16. — № 1. — С. 83–95. — doi: https://doi.org/10.24287/1726-17082017-16-1-83-95; Исаева Б.Э., Макимбетов Э.К. Тромбоцитопатии у детейс нарушением адгезии и агрегации тромбоцитов // Научное образование. Медицинские науки. — 2020. — № 2.—С. 26–29. — doi:https://doi.org/10.17513/srms.1100; Ярец Ю.И., Ромашевская И.П.,ХодулеваС.А.идр.Агрегатометриявдиагностикетромбоцитопатий у детей // Гематология. Трансфузиология. Восточная Европа. — 2021. — Т. 7. — № 4. — С. 507–511. — doi: https://doi.org/10.34883/PI.2021.7.4.013; Soliman M, Hartmann M. Multiplate Platelet Aggregation Findings Are Dependent on Platelet Count but Can Be Corrected by Use of a Ratio. Appl Sci. 2020;10(22):7971. https://doi.org/10.3390/app10227971; Baglin T, Gray E, Greaves M, et al. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol. 2010;149(2):209–220. https://doi.org/10.1111/j.1365-2141.2009.08022.x; Baglin T, Gray E, Greaves M, et al. Clinical guidelines for testing for heritable thrombophilia. Thrombophilia, clinical factors, and recurrent venous thrombotic events. JAMA. 2005;293(19):2352– 2361. https://doi.org/10.1001/jama.293.19.2352; Гордеева О.Б., Карасева М.С., Бабайкина М.А.и др. Исследование агрегационной функции тромбоцитов у детей для определения нормативных значений в различных возрастных группах // Лечащий Врач. — 2022. — Т. 25. — № 4. — С. 27–32. — https://doi.org/10.51793/OS.2022.25.4.005; https://www.pedpharma.ru/jour/article/view/2411

Verfügbarkeit: https://www.pedpharma.ru/jour/article/view/2411
https://doi.org/10.15690/pf.v21i1.2658

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Molecular-genetic study of SMN1 and SMN2 genes associated with spinal muscular atrophy in individuals with infertility prior to in vitro fertilization ; Молекулярно-генетическое исследование ассоциированных со спинальной мышечной атрофией генов SMN1 и SMN2 у лиц с бесплодием, направленных на проведение экстракорпорального оплодотворения

Autoren: E. V. Kudryavtseva O. V. Lagutina V. V. Kovalev et al.

Quelle: Obstetrics, Gynecology and Reproduction; Vol 17, No 6 (2023); 707-717 ; Акушерство, Гинекология и Репродукция; Vol 17, No 6 (2023); 707-717 ; 2500-3194 ; 2313-7347

Dateibeschreibung: application/pdf

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Adeno-associated virus vector-based gene therapy for hereditary diseases: current problems of application and approaches to solve them ; Генная терапия наследственных заболеваний на основе аденоассоциированных вирусных векторов: современные проблемы применения и пути их решения

Autoren: T. V. Egorova A. A. Piskunov D. A. Poteryaev et al.

Weitere Verfasser: T. V. Egorova A. A. Piskunov D. A. Poteryaev et al.

Quelle: Biological Products. Prevention, Diagnosis, Treatment; Том 24, № 2 (2024); 123-139 ; БИОпрепараты. Профилактика, диагностика, лечение; Том 24, № 2 (2024); 123-139 ; 2619-1156 ; 2221-996X ; 10.30895/2221-996X-2024-24-2

Schlagwörter: очистка вирусных частиц AAV, gene therapy product, adeno-associated virus, AAV, adeno-associated virus vectors, hereditary diseases, haemophilia, Duchenne muscular dystrophy, gene therapy efficacy, gene therapy safety, AAV production technology, AAV modification, triple-plasmid transfection, AAV-particle purification, генотерапевтический лекарственный препарат, аденоассоциированный вирус, ААV, аденоассоциированные вирусные векторы, наследственные заболевания, гемофилия, миодистрофия Дюшенна, эффективность генной терапии, безопасность генной терапии, технология производства AAV, модификация AAV, трехплазмидная технология

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Verfügbarkeit: https://www.biopreparations.ru/jour/article/view/572
https://doi.org/10.30895/2221-996X-2024-24-2-123-139

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БОЛЕЗНЬ РЕКЛИНГХАУЗЕНА У БЕРЕМЕННОЙ: КЛИНИЧЕСКИЙ СЛУЧАЙ

Schlagwörter: наследственные заболевания, neurofibromatosis, clinical case, болезнь Реклингхаузена, Recklinghausen's disease, hereditary diseases, pregnancy, клинический случай, нейрофиброматоз, беременность

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16

CONGENITAL ICHTHYOSIS (CLINICAL CASE)

Autoren: Ольга Борисовна Зарубина Юлия Валерьевна Васютинская Анна Николаевна Денисова et al.

Quelle: Медицина в Кузбассе, Vol 20, Iss 2, Pp 65-68 (2021)

Schlagwörter: новорожденный, врожденный ихтиоз, заболевания кожи, наследственные заболевания, Medicine

Dateibeschreibung: electronic resource

Relation: https://mednauki.ru/index.php/MK/article/view/587; https://doaj.org/toc/1819-0901; https://doaj.org/toc/2588-0411

Zugangs-URL: https://doaj.org/article/8201c3fb15c44cc8abd05391e3af377a

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17

Modern concept of generalized neurofibromatosis type I: diagnosis, treatment: Современная концепция генерализованного нейрофиброматоза I типа: диагностика, лечение

Autoren: Zarichansky, V.A. Chkadua, T.Z. Egiazaryan, A.K. et al.

Quelle: Head and neck. Russian Journal. 11

Schlagwörter: neurofibromatosis, болезнь Реклингхаузена, узелки Лиша, nervous system, генерализованный нейрофиброматоз 1 типа, 3. Good health, neurofibroma, нейрофиброма, наследственные заболевания, сutaneous neurofibroma, neurofibromatosis type I, нервная система, NF-1 gene, Recklinghausen's disease, ген НФ-1, Lisch nodules, кожная нейрофиброма, inherited diseases, нейрофиброматоз

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18

Duchenne Muscular Dystrophy: Modern Approaches in Patient Management ; Мышечная дистрофия Дюшенна: современные подходы к ведению и лечению пациентов

Autoren: Inga V. Anisimova Svetlana B. Artemyeva Elena D. Belousova et al.

Weitere Verfasser: Inga V. Anisimova Svetlana B. Artemyeva Elena D. Belousova et al.

Quelle: Pediatric pharmacology; Том 20, № 5 (2023); 427-453 ; Педиатрическая фармакология; Том 20, № 5 (2023); 427-453 ; 2500-3089 ; 1727-5776

Schlagwörter: дети, hereditary diseases, cardiomyopathies, pathogenetic therapy, rehabilitation, children, наследственные заболевания, кардиомиопатии, патогенетическая терапия, реабилитация

Dateibeschreibung: application/pdf

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