Results 111 to 120 of about 285,383 (314)

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Simulating a multi-level priority triage system for Maternity Emergency [PDF]

, 2014
Nowadays Decision Support Systems are increasingly used in order to help health professionals. An example of this application is the implementation of a triage system in hospital emergency.
Abelha, António, Brandão, Andreia, Machado, José Manuel, Pereira, Eliana, Portela, Filipe, Santos, Manuel Filipe   +5 more
core  

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Resolving the Uncertainty of Preterm Symptoms: Women’s Experiences With the Onset of Preterm Labor [PDF]

, 2002
Objective: To describe expectant women\u27s experiences with the onset of preterm labor. Design: Qualitative, using grounded theory methods. Setting: Southwestern tertiary women\u27s hospital.
Harris, Susan, Saks, Nancy P, Weiss, Marianne E.   +2 more
core   +1 more source

Midwife’s implementation of maternal and neonatal care after cesarean section at obstetric department, national hospital of obstetrics and gynecology in 2018

Tạp chí Nghiên cứu và Thực hành Nhi khoa, 2018
Aim: Description of Midwife’s implementation of maternal and neonatal care after cesarean section atObstetric Department, National Hospital of Obstetrics and Gynecology in 2018.Methodology: A ramdomized, cross sectional study was conducted on 50 midwifes giving care for motherand child care after cesarean section.Result: 86% of midwife implements and ...
Tran Thi Tu Anh, Vu Thi Hoang Lan, Do Manh Hung   +2 more
openaire   +2 more sources

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

Spontaneously Expelled Lippes Loop IUD After 40 Years of Use: A Case Report and Review of the Literature

International Medical Case Reports Journal, 2022
Temesgen Tilahun,1 Asfaw Tadesse,2 Rut Oljira3 1Department of Obstetrics & Gynecology, Institute of Health Sciences, Wollega University, Nekemte, Ethiopia; 2Department of Obstetrics & Gynecology, Nekemte Specialized Hospital, Nekemte, Ethiopia ...
Tilahun T, Tadesse A, Oljira R
doaj  

Characteristics Overview of Mother with Perinatal Death at Dr. Soetomo Hospital in 2015 [PDF]

, 2016
Objectives: to determine the frequency distribution of perinatal mortality and maternal characteristic features in terms of age, parity, gestational age and pregnancy complications in Dr.Soetomo Hospital Surabaya in 2015.
Haslinda, Y. (Yulisa), Prasetyo, B. (Budi)   +1 more
core  

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source