Zobrazeno 1 - 10
of 420
pro vyhledávání: '"Ultrasound findings"'
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
ObjectiveThis study aimed to assess the viability of a multivariate regression model utilizing ultrasound findings and serum markers for predicting thyroid cancer metastasis.MethodsA retrospective analysis of 98 thyroid patients admitted from January
Externí odkaz:
https://doaj.org/article/ace7011ffdac47359a28b2799a54e497
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
ObjectiveThe recurrent 1q21.1 microdeletion syndrome is an autosomal dominant disorder and is characterized by dysmorphic facial features, microcephaly, developmental delay, and congenital defects. However, most studies on the distal deletions in the
Externí odkaz:
https://doaj.org/article/4ba146321c8b48c8b8d33debaca91b9e
Autor:
Meixiang Zhang, Liqiong Hou, Liangyu Guo, Qichang Zhou, Hougang Zhou, Na Sang, Ting Tan, Yan Xie, Yongjun Wang, Xiaoliang Huang, Jing Liu, Chunwang Li, Beilei Huang, Yulin Peng, Yifan Kong, Yingchun Luo
Publikováno v:
BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Background Whether intrauterine transmission of COVID-19 occurs remains uncertain, and it remains unclear whether the disease affects fetuses. We present a case of intrauterine transmission of SARS-CoV-2 infection and the prenatal ultrasonog
Externí odkaz:
https://doaj.org/article/9766c302afb14b1f91bc40509dcd3824
Autor:
Rosita Verteramo, Erica Santi, Francesca Ravennati, Gennaro Scutiero, Pantaleo Greco, Danila Morano
Publikováno v:
Reproductive Medicine, Vol 3, Iss 3, Pp 201-221 (2022)
Infectious diseases during pregnancy are still a major cause of fetal mortality and morbidity worldwide. The most common teratogenic pathogens are cytomegalovirus (CMV), varicella-zoster virus (VZV), rubeovirus, parvovirus B19, herpes simplex virus (
Externí odkaz:
https://doaj.org/article/799e72650355490dabb527b343548498
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Abstract Objective Wolf–Hirschhorn syndrome (WHS) is a congenital malformation syndrome with poor prognosis. It is associated with a heterozygous deletion of chromosome 4p16.3. Adequate knowledge of prenatal phenotypes and proper prenatal counselin
Externí odkaz:
https://doaj.org/article/06d168cd892b4cfba68622144f5b76d6
Autor:
Margot Rosenthal, Vanessa Poliquin
Publikováno v:
Canada Communicable Disease Report, Vol 48, Iss 2-3, Pp 111-114 (2022)
Background: The incidence of syphilis among Canadian women of childbearing age has risen dramatically in the past decade, with a resurgence of infants born with congenital syphilis. While guidelines exist to guide maternal infection during pregnancy,
Externí odkaz:
https://doaj.org/article/16102ade245540c69aa3901754e9889b
Publikováno v:
Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 25-34 (2021)
Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicr
Externí odkaz:
https://doaj.org/article/2cde02bb78454f4ea00edb220190160b
Autor:
Jiasun Su, Huayu Fu, Bobo Xie, Weiliang Lu, Wei Li, Yuan Wei, Qiang Zhang, Shengkai Wei, Qiuli Chen, Yingchi Lu, Tingting Jiang, Jingsi Luo, Zailong Qin
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Background Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental re
Externí odkaz:
https://doaj.org/article/b988669035c5424b99a896023196675a
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-8 (2019)
Abstract Background Pallister-Killian syndrome (PKS) (OMIM:#601803) is a rare sporadic genetic disorder characterized by multi-malformations which is caused by the presence of the extra isochromosome 12p. PKS is featured by the tissue-limited mosaici
Externí odkaz:
https://doaj.org/article/3694885ed48d4389ad2192accd192dde
Autor:
Adriana Serrano Olave, Alba Padín López, María Martín Cruz, Susana Monís Rodríguez, Isidoro Narbona Arias, Jesús S. Jiménez López
Publikováno v:
Diagnostics, Vol 12, Iss 7, p 1535 (2022)
Neu–Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, just eighty-eight cases have been reported. The syndrome is charac
Externí odkaz:
https://doaj.org/article/d3aedad40e7042ef9f21aea8d64c31be