Zobrazeno 1 - 10
of 703
pro vyhledávání: '"Genetic study"'
Publikováno v:
Khyber Medical University Journal, Vol 16, Iss 3, Pp 201-6 (2024)
OBJECTIVE: To conduct clinical and genetic analysis in a patient with severe combined immunodeficiency disease (SCID). METHODS: A 3.5-year-old female patient with chronic diarrhea, fever, and failure to thrive was examined at the Pakistan Institute
Externí odkaz:
https://doaj.org/article/d6555fd8d36d490684d3325faa5385e4
Autor:
Ruslan N. Trushkin, Teymur K. Isaev, Pavel E. Medvedev, Nikolai E. Shcheglov, Valerii V. Variasin, Mariana A. Lysenko, Ilya V. Dmitriev, Aslan G. Balkarov, Laura A. Kesaeva
Publikováno v:
BMC Nephrology, Vol 25, Iss 1, Pp 1-6 (2024)
Abstract Introduction Kidney transplantation is the optimal treatment modality for patients with end-stage chronic kidney disease. The long-term mortality of kidney recipients is 48–82% lower than that of patients on the waiting list. However, the
Externí odkaz:
https://doaj.org/article/c12e8f676f334782adc80ef9689f22d6
Autor:
Miquel Blasco, Borja Quiroga, José M. García-Aznar, Roser Torra, Alberto Ortiz, Patricia de Sequera
Publikováno v:
Nefrología, Vol 44, Iss 4, Pp 568-575 (2024)
Resumen: Introducción: La enfermedad renal crónica (ERC) de etiología no filiada es una de las principales causas de tratamiento sustitutivo renal en nuestro medio. Estudios previos en otros territorios sugieren que las enfermedades hereditarias p
Externí odkaz:
https://doaj.org/article/d56c9c45e81d413d895d453e6cead0ad
Autor:
O. V. Kurbatova, A. A. Zhuzhula, S. V. Lapin, M. A. Snovskaya, D. I. Kozlova, S. V. Petrichuk, D. G. Kuptsova, D. A. Kuznetsova, G. B. Movsisyan, A. D. Komarova, T. V. Radygina, A. B. Guslev, I. V. Kholopova, E. L. Semikina, S. G. Makarova, A. S. Potapov, A. P. Fisenko
Publikováno v:
Аллергология и Иммунология в Педиатрии, Vol 0, Iss 1, Pp 48-52 (2024)
Externí odkaz:
https://doaj.org/article/cbb8bda3f34e44b08ad41033cf2671da
Autor:
Erik Chávez-Vélez, Francisco Álvarez-Nava, Alisson Torres-Vinueza, Thalía Balarezo-Díaz, Kathya Pilataxi, Camila Acosta-López, Ivonne Z. Peña, Katherin Narváez
Publikováno v:
Frontiers in Cellular and Infection Microbiology, Vol 14 (2024)
COVID-19 has a broad clinical spectrum, ranging from asymptomatic-mild form to severe phenotype. The severity of COVID-19 is a complex trait influenced by various genetic and environmental factors. Ethnic differences have been observed in relation to
Externí odkaz:
https://doaj.org/article/85c49a84bdcf4ddbaf24dfa4953e94be
Autor:
Anna A. Mikhelson, Evgenia V. Lugovykh, Maria V. Lazukina, Tatiana B. Tretyakova, Anatoly N. Varaksin, Ekaterina D. Konstantinova
Publikováno v:
Гинекология, Vol 25, Iss 3, Pp 353-359 (2023)
Aim. To identify the molecular genetic determinants of stress urinary incontinence (UI) in women. Materials and methods. A comparative study involving 120 women was conducted. Group 1 (main group) included 80 women with UI. Group 2 (comparison gro
Externí odkaz:
https://doaj.org/article/7b1a7e50480e42dba95106d989fae77f
Autor:
Tatiana V. Kirsanova, Alina I. Balakireva, Tatiana A. Fedorova, Aleksei V. Pyregov, Oleg V. Rogachevskiy
Publikováno v:
Терапевтический архив, Vol 95, Iss 6, Pp 511-515 (2023)
We report a case of atypical hemolytic uremic syndrome (aHUS) that occurred after childbirth in a patient with a history of numerous recurrent episodes of TMA with nephrotic proteinuria and impaired renal function. At 33 weeks of the first spontaneou
Externí odkaz:
https://doaj.org/article/b9701495f3664e2ba45f919dbc4ac64f
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
BackgroundBrugada syndrome (BrS) is a channelopathy that can lead to sudden cardiac death in the absence of structural heart disease. Patients with BrS can be asymptomatic or present with symptoms secondary to polymorphic ventricular tachycardia or v
Externí odkaz:
https://doaj.org/article/4a804055a8e04162826031758d9a82d2
Autor:
Marta Araujo-Castro, Paola Parra, Patricia Martín Rojas-Marcos, Miguel Paja Fano, Marga González Boillos, Eider Pascual-Corrales, Ana María García Cano, Jorge Gabriel Ruiz-Sanchez, Almudena Vicente Delgado, Emilia Gómez Hoyos, Rui Ferreira, Iñigo García Sanz, Mònica Recasens Sala, Rebeca Barahona San Millan, María José Picón César, Patricia Díaz Guardiola, Carolina M. Perdomo, Laura Manjón-Miguélez, Rogelio García Centeno, Ángel Rebollo Román, Paola Gracia Gimeno, Cristina Robles Lázaro, Manuel Morales-Ruiz, María Calatayud, Simone Andree Furio Collao, Diego Meneses, Miguel Sampedro Nuñez, Verónica Escudero Quesada, Elena Mena Ribas, Alicia Sanmartín Sánchez, Cesar Gonzalvo Diaz, Cristina Lamas, María del Castillo Tous, Joaquín Serrano Gotarredona, Theodora Michalopoulou Alevras, Eva María Moya Mateo, Felicia A. Hanzu
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
PurposeTo compare the clinical and hormonal characteristics of patients with familial hyperaldosteronism (FH) and sporadic primary aldosteronism (PA).MethodsA systematic review of the literature was performed for the identification of FH patients. Th
Externí odkaz:
https://doaj.org/article/525c4e3568b1411abf8da82879163541
Publikováno v:
КардиоСоматика, Vol 14, Iss 1, Pp 59-66 (2023)
The WolfParkinsonWhite (WPW) syndrome is a condition with early excitation of the heart ventricles due to the conduction of an electrical pulse along the atrioventricular pathway, such as the Kent, James bundle, and Mahaim fibers; the pulse is usuall
Externí odkaz:
https://doaj.org/article/88ec603f865a40828fe5a91be5557b8b