Results 281 to 289 of about 345,265 (289)
Prenatal Diagnosis, EarlyView.ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear +6 more
wiley +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal Diagnosis, EarlyView.ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
The Sooner, the Better: Neuroprotective Strategies in Fetuses With Congenital Heart Disease
Prenatal Diagnosis, EarlyView.ABSTRACT Congenital heart disease (CHD) is the most frequent congenital malformation at birth and is associated with neurodevelopmental impairments. Alterations in cardiovascular physiology can lead to reduced cerebral blood perfusion and oxygenation, which negatively affects brain growth and maturation.
Maaike Nijman +7 more
wiley +1 more source
Migrasomes, Matrix‐Bound Nanovesicles, and More: Messengers in the Matrix
PROTEOMICS, EarlyView.ABSTRACT Extracellular vesicles (EVs) and particles (EPs) are diverse micro‐ and nanoparticles that circulate in bodily fluids and can attach to, or be deposited onto, the extracellular matrix (ECM) and other surfaces. To date, the nomenclature and classification of matrix‐bound or matrix‐associated EVs and EPs (MEVPs) have been unclear, largely due to
Anna V. Kolesov +3 more
wiley +1 more source
Pathogenesis of Age‐Related Hearing Loss and Therapeutic Strategies
Sensory Neuroscience, EarlyView.ABSTRACT Age‐related hearing loss (ARHL) is a degenerative disorder of the auditory system, characterized by bilateral symmetrical sensorineural hearing loss that occurs with aging. As a highly prevalent age‐related condition worldwide, ARHL significantly impairs both the quality of life and mental health of the elderly.
Yu Xiao +6 more
wiley +1 more source
Activatable smart contrast agents for photoacoustic imaging
Smart Molecules, EarlyView.This review highlights recent advances in smart activatable photoacoustic imaging (PAI) contrast agents, which dynamically modulate their optical properties in response to external stimuli or microenvironmental cues. It discusses their molecular design, activation mechanisms, biomedical applications, and future prospects for clinically tailored use ...
Donghyeon Oh +5 more
wiley +1 more source