Zobrazeno 1 - 10
of 6 022
pro vyhledávání: '"Trisomy 21"'
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 931-934 (2024)
Objective: We present prenatal diagnosis of mosaic trisomy 21 at amniocentesis associated with unbalanced Robertsonian translocation in the fetus and a favorable fetal outcome. Case Report: A 41-year-old, primigravid woman underwent amniocentesis at
Externí odkaz:
https://doaj.org/article/65cf8a3ecaf54f3683ac337e53c9982f
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 927-930 (2024)
Objective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line. Case Report: A 36-year-old, primigravid woma
Externí odkaz:
https://doaj.org/article/bbc751681b434522b15a8dae6125fb92
Publikováno v:
Journal of Cardiothoracic Surgery, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract Both arteriovenous malformation (AVM) and trisomy 21 are rare diseases. Studies have shown that individuals with trisomy 21 may have potential vascular malformations, with the main site of onset being the portal system. This case involved an
Externí odkaz:
https://doaj.org/article/abc2241814c949f6b21f5308fd88cb20
Autor:
Shaimaa Alsulami, Ashjan Alghanem, Renad AlShuraim, Khalid Al Sulaiman, Omer Ahmed Abdelwahab, Sarah Aljohani, Hadeel Alkofide, Mashael AlFaifi, Tarek Hazwani, Ohoud Aljuhani
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-10 (2024)
Abstract Background Down syndrome (DS), or Trisomy 21, is defined by the existence of an additional chromosome 21. Various physiological considerations in DS patients might lead to challenges in adequate pain management and sedation after surgery. Th
Externí odkaz:
https://doaj.org/article/18dc37f0fc0349248f921377327e6164
Autor:
Andrey Marakhonov, Anna Mukhina, Elena Vlasova, Irina Efimova, Natalya Balinova, Yulia Rodina, Dmitry Pershin, Zhanna Markova, Marina Minzhenkova, Nadezhda Shilova, Dzhaina Mudaeva, Djamila Saydaeva, Taisiya Irbaieva, Svetlana Matulevich, Elena Belyashova, Grigoriy Yakubovskiy, Inna Tebieva, Yulia Gabisova, Murat Ikaev, Nataliya Irinina, Liya Nurgalieva, Elena Saifullina, Tatiana Belyaeva, Olga Romanova, Sergey Voronin, Rena Zinchenko, Anna Shcherbina, Sergey Kutsev
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Newborn screening (NBS) for severe combined immunodeficiency (SCID) has been widely implemented to enable early detection and intervention. Trisomy 21, commonly known as Down syndrome (DS), poses unique challenges in NBS due to its frequent associati
Externí odkaz:
https://doaj.org/article/5dfc78da418c415dbb00aa1672da4957
Sex-specific trisomic Dyrk1a-related skeletal phenotypes during development in a Down syndrome model
Autor:
Jonathan M. LaCombe, Kourtney Sloan, Jared R. Thomas, Matthew P. Blackwell, Isabella Crawford, Flannery Bishop, Joseph M. Wallace, Randall J. Roper
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 9 (2024)
Externí odkaz:
https://doaj.org/article/1572a482389742a1848b82c57d5c59f0
Autor:
Vani Krishnamurthy, KR Shouree
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 18, Iss 08, Pp 13-15 (2024)
Transient Abnormal Myelopoiesis (TAM) is a transient haematological condition observed in children with Down syndrome during their neonatal period. Spontaneous resolution without any specific treatment is the rule, and the condition is known to occur
Externí odkaz:
https://doaj.org/article/b2af78e1d834427bbeeedb4e4a55ba9a
Autor:
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Chi Lee, Chien-Ling Chiu, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 3, Pp 394-397 (2024)
Objective: We present low-level mosaic trisomy 21 at amniocentesis in a pregnancy with a favorable fetal outcome. Case Report: A 38-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age.
Externí odkaz:
https://doaj.org/article/2d69f05db1c84d808e140b5c7a167168
Autor:
Dhruv M. Shah, Esther M. Xu, Radhika S. Gholap, Zahur F. Sallman, Taylor Kolosky, Moran R. Levin, Sudhir Vashist, Janet L. Alexander
Publikováno v:
Heliyon, Vol 10, Iss 13, Pp e34118- (2024)
Backgroundobjectives: To compare the structural anatomy of the anterior segment in pediatric Trisomy 21 (T21) subjects with and without cataracts to age-matched controls. Design: Prospective case-control study. Participants: 40 subjects (57 eyes) age
Externí odkaz:
https://doaj.org/article/d2d7a161c66144e2ae3d8e5d549dd133
Autor:
Yu-shan Lu, Ying-ying Chen, Si-yi Ding, Li Zeng, Liang-cheng Shi, Yu-jiao Li, Jing-jing Zhang, Jin Fu, Shi-hao Zhou, Jun He
Publikováno v:
Heliyon, Vol 10, Iss 13, Pp e33437- (2024)
Background: Non-invasive prenatal tests (NIPT) are used to screen for trisomy 21, 18, and 13. This study investigated NIPT performance and the clinical significance of its results. Methods: Pregnant women (n = 282,911) participating in a free NIPT (A
Externí odkaz:
https://doaj.org/article/d431c55aa9c34740a505218bb29fa80a