Results 61 to 70 of about 65,471 (356)

Recollections of My Research in Developing the Heart-Lung Machine at Jefferson Medical College [PDF]

, 2005
A personal memoir written by Dr. Bernard J. Miller about his introduction to and interest in medical research as well as his experiences working on the heart-lung machine. He focuses specifically on his working relationship with John H.
Miller, Bernard J.
core   +1 more source

Building Disease Detection Algorithms with Very Small Numbers of Positive Samples

, 2018
Although deep learning can provide promising results in medical image analysis, the lack of very large annotated datasets confines its full potential.
DJ Penny, HC Shin, L Fei-Fei, O Ronneberger, SM O’Leary, T Geva   +5 more
core   +1 more source

Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. [PDF]

, 2013
We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex ...
Richardson, Randy R, Silverman, Norman H, Solomon, Julia E, Stock, John H   +3 more
core   +2 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Frequency and pattern of Congenital Heart Defects in children with Down’s Syndrome

Gomal Journal of Medical Sciences, 2012
Background: Patients with Down’s syndrome are prone to have congenital heart defects. This study was conducted to evaluate the frequency of various congenital heart defects in children with Down’s syndrome in Khyber Pukhtunkhwa province.
Inayatullah Khan, Taj Muhammad
doaj  

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Impact of \u3cem\u3eMYH6\u3c/em\u3e Variants in Hypoplastic Left Heart Syndrome [PDF]

, 2016
Hypoplastic left heart syndrome (HLHS) is a clinically and anatomically severe form of congenital heart disease (CHD). Although prior studies suggest that HLHS has a complex genetic inheritance, its etiology remains largely unknown.
Benson, D. Woodrow, Goetsch, Mary A., Hidestrand, Mats, Hidestrand, Pip M., Kim, Min-Su, Liang, Huan-Ling, Lough, John, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Tomita-Mitchell, Aoy, Tweddell, James S.   +13 more
core   +2 more sources

Centered Partition Process: Informative Priors for Clustering

, 2019
There is a very rich literature proposing Bayesian approaches for clustering starting with a prior probability distribution on partitions. Most approaches assume exchangeability, leading to simple representations in terms of Exchangeable Partition ...
Dunson, David B., Herring, Amy H., Olshan, Andrew F., Paganin, Sally   +3 more
core   +1 more source

Modeling chronic periodontitis in rats: Persistent alveolar bone loss mediated by periodontal pathogens

Animal Models and Experimental Medicine, EarlyView.
Irrigation of periodontal pockets with human periopathogens, in combination with a 14‐day ligature‐induced periodontitis protocol, significantly enhances alveolar bone loss and sustains bacterial colonization for up to 28 days following ligature removal, thereby more closely replicating the chronic nature of human periodontitis compared to the ligature
Maksym Skrypnyk, Chun Xu, Shlomo Berkovsky, Thilini Jayasinghe, Axel Spahr   +4 more
wiley   +1 more source