Results 101 to 110 of about 53,825 (265)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Stroke mimic: Hemiplegia in a case of acute aortic dissection

open access: yes
Journal of General and Family Medicine, EarlyView.
Masahiro Biyajima   +3 more
wiley   +1 more source

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup   +4 more
wiley   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang   +21 more
wiley   +1 more source

Rheumatoid arthritis and pericardial effusion – a unique major manifestation

open access: yesEuropean Journal of Case Reports in Internal Medicine
Introduction: Pericardial effusion is common in the setting of rheumatoid arthritis (RA); however, it is rarely its first manifestation. Case description: An 82-year-old male presented with abdominal pain, vomiting and fever.
Isabel Cruz   +4 more
doaj   +1 more source

Conservative management of malignant pericardial effusion [PDF]

open access: bronze, 1974
Frank E. Smith   +2 more
openalex   +1 more source

Pediatric human immunodeficiency virus infection in the modern era: A systematic review of recent advances and their implications

open access: yesPediatric Investigation, EarlyView.
This review discusses how early antiretroviral therapy initiation, long‐acting therapies, and prevention of mother‐to‐child transmission contribute to improved pediatric human immunodeficiency virus outcomes. Despite these advances, treatment complications and challenges in transitioning to adult care remain major barriers to lifelong management ...
Klaudia Nowak   +6 more
wiley   +1 more source

Artificial Intelligence Guided Nonexpert Echocardiogram in the COVID‐19 Health Action Response in Marines 2.0 Study

open access: yesSonography, EarlyView.
ABSTRACT Purpose Echocardiography is a widely utilized cardiac imaging modality, but accessibility can be limited by cost and lack of skilled sonographers. We demonstrate the use of point‐of‐care ultrasound (POCUS) with an embedded deep learning algorithm to guide novice users in obtaining diagnostic‐quality echocardiographic images and ejection ...
Andrew G. Letizia   +10 more
wiley   +1 more source

Pericardial effusion

open access: yes, 2015
Faisal Syed   +3 more
openaire   +2 more sources

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