Results 41 to 50 of about 262,419 (315)

Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

BMC Medical Genomics, 2021
Background Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown.
Meiying Cai, Na Lin, Xuemei Chen, Meimei Fu, Nan Guo, Liangpu Xu, Hailong Huang   +6 more
doaj   +1 more source

Monitoring of circulating tumor DNA allows early detection of disease relapse in patients with operable breast cancer

Molecular Oncology, EarlyView.
Monitoring circulating tumor DNA (ctDNA) in patients with operable breast cancer can reveal disease relapse earlier than radiology in a subset of patients. The failure to detect ctDNA in some patients with recurrent disease suggests that ctDNA could serve as a supplement to other monitoring approaches.
Kristin Løge Aanestad, Marie Austdal, Oddmund Nordgård, Gunnar Mellgren, Satu Oltedal, Marie L. Austbø, Ylva H. Vignes, Thomas Helland, Kristin Jonsdottir, Tone H. Lende, Emilius A. M. Janssen, Bjørnar Gilje, Kjersti Tjensvoll, PBCB study group, Gunnar Mellgren, Tone Hoel Lende, Anette Heie, Kristin Viste, Anita Røyneberg Alvheim, Emiel AM Janssen, Kristin Jonsdottir, Ann Cathrine Kroksveen, Thomas Helland, Einar Gudlaugsson, Oddmund Nordgård, Satu Oltedal, Kristin Løge Aanestad, Jan Terje Kvaløy, Kirsten Lode, Kari Britt Hagen, Marie Austdal, Ylva H. Vignes, Siri Tungland Sola, Nina Egeland Amundsen, Finn Magnus Eliassen, Emeritus Ernst A Lien   +35 more
wiley   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
doaj   +1 more source

Nomogram for predicting the risk of preterm birth in women undergoing in vitro fertilization cycles

BMC Pregnancy and Childbirth, 2023
Background The aim of this study was to develop a nomogram for predicting the risk of preterm birth in women undergoing in vitro fertilization (IVF) cycles.
Mohan Wang, Mengzhe Hao, Ning Liu, Xiao Yang, Yubin Lu, Ruizhi Liu, Hongguo Zhang   +6 more
doaj   +1 more source

The Safety Appliance Act and the FELA: A Plea for Clarification [PDF]

, 1953
The aim of this thesis is to analyse and examine the debate on prenatal testing in Western countries, with a special focus on my own country, Sweden. In the near future it might be possible for a pregnant woman to profile the DNA of her foetus with a ...
Louisell, David W., Anderson, Kenneth M.
core   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Evaluation of the Efficacy and Safety of Satralizumab in a Pregnant NMOSD Patient With AQP4/MOG‐IgG Dual Seropositive: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Neuromyelitis Optica Spectrum Disorder (NMOSD) is a chronic autoimmune neuroinflammatory disease, typically characterized by antibodies against aquaporin 4 (AQP4‐IgG) or myelin oligodendrocyte glycoprotein (MOG‐IgG). Simultaneous seropositivity for both antibodies in a single patient is exceedingly rare.
Yeting Luo, Shuhua Xie, Xianghong Liu
wiley   +1 more source

Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

Basic and Clinical Neuroscience, 2020
Introduction: Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. Methods: We applied WES for a patient presenting 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and ...
Mina Zamani, Tahereh Seifi, Jawaher Zeighami, Neda Mazaheri, Emad Jahangirnezhad, Minoo Gholamzadeh, Alireza Sedaghat, Gholamreza Shariati, Hamid Galehdari   +8 more
doaj  

Parental Substance Abuse As an Early Traumatic Event. Preliminary Findings on Neuropsychological and Personality Functioning in Young Drug Addicts Exposed to Drugs Early. [PDF]

, 2016
open5noParental substance use is a major risk factor for child development, heightening the risk of drug problems in adolescence and young adulthood, and exposing offspring to several types of traumatic events.
Afifi, Aharonovich, Alati, Alati, American Psychiatric Association (APA), American Psychiatric Association (APA), Anda, Bada, Baer, Bailey, Baker, Barnard, Barr, Behnke, Bennett, Best, Bhide, Blagov, Blair, Bornovalova, Brand, Brown, Carmody, Chambers, Chapman, Chassin, Chassin, Chen, Cone, Connor, Cooper, Crean, Cruz, Cyr, Daniel, Day, Day, De Palo, Delaney-Black, Dennis, Derogatis, Derogatis, Dikmen, Edwards, Eiden, Eiden, Eiden, Eiden, El-Sheikh, El-Sheikh, Elkins, Engeland, Enoch, Ersche, European Monitoring Centre for Drugs Drug Addiction (EMCDDA), Evans, Eyler, Fals-Stewart, Farah, Farah, Fishbein, Fisher, Fisher, Ford, Frank, Fried, Giancola, Gibb, Glantz, Goldman, Goldschmidt, Goler, Grant, Griffith, Guttmacher Institute, Hackman, Hans, Hanson, Henry, Hicks, Hinrichs, Hurt, Hurt, Hussong, Hussong, Hussong, Jacobson, Jernigan, Johnston, Jutras-Aswad, Kearney, Kerns, Killinger, Kliewer, Klonoff-Cohen, Kodituwakku, Kokkevi, Konijnenberg, Kopera-Frye, Krueger, Langås, Leech, Lester, Lester, Lewis, Lewis, Li, Lingiardi, Lipina, Mackesy-Amiti, Malone, Marin-Avellan, Mattson, Maurage, May, Mayes, Mayes, McClelland, McGue, McNamee, Melchior, Meyers, Mezzacappa, Minnes, Moilanen, Mondini, Mondini, Morgan, Nigg, Noble, Noble, Noland, Noland, O'Brien, O'Connor, Obot, Olson, Olson, Pears, Posner, Prunas, Putnam, Rao, Rasmussen, Rasmussen, Richardson, Richardson, Riley, Rose-Jacobs, Rose-Jacobs, Rosenkranz, Rubes, Samhsa Office of Applied Studies (SAMHSA), Sarno, Savage, Schmid, Shedler, Shedler, Sheinkopf, Singer, Singer, Smith, Solowij, Stocco, Stone, Strathearn, Tapert, Tapert, Taplin, Tarter, Tarter, Thompson, Tonmyr, van der Kolk, Van Voorst, Vaske, Velez, Verdejo-García, Warner, Warner, Westen, Westen, Westen, Westen, Willford, Willford, Woon, Young   +187 more
core   +2 more sources