Results 131 to 140 of about 1,222,695 (300)

Fetal Cardiac MRI

, 2019
Magnetic resonance imaging (MRI) is an appealing technology for fetal cardiovascular assessment. It can be used to visualize fetal cardiac and vascular anatomy, to quantify fetal blood flow, and to quantify fetal blood oxygen saturation and hematocrit ...
Seed, M., Christopher K. Macgowan, Mike Seed, Christopher W. Roy, Roy, C.W., van Amerom, JFP, Joshua F.P. van Amerom, Davide Marini, Marini, D., Macgowan, C.K.   +9 more
core   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Cardiac MRI is superior to gated blood pool imaging in the assessment of left ventricular function in patients post-cardiac transplantation

, 2010
Background: Gated Blood Pool Imaging (GBPI) has low inter-test variability compared to echocardiography, and is often used when accurate repeated measurements of left ventricular ejection fraction are required such as in the surveillance of post ...
Hamilton-Craig, Christian R., Bartlett, Harry, Strugnell, Wendy E., Hamilton-Craig, Christian, Bartlett, Harold J.G., Parry, Temeeka, Strugnell, Wendy, Parry, Temeeka A., Slaughter, Richard E., Slaughter, Richard   +9 more
core   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Toward Cell‐Specific Molecular MRI: Modulating Chemical Exchange Saturation Transfer Contrast With Manganese

Angewandte Chemie, EarlyView.
Manganese‐modulated chemical exchange saturation transfer (CEST) MRI, Manga CEST, leverages intracellular Mn2+ uptake to selectively perturb CEST contrast. Comparing Z‐spectra before and after Mn reveals compartment‐specific contributions. In vivo, neuron‐enriched Mn accumulation induces frequency‐dependent attenuation (3–4 ppm), enabling cell‐weighted
Eleonora Cavallari, Valeria Bitonto, Morgana Giachello, Angelo Bifone   +3 more
wiley   +2 more sources

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

The BOLD MRI response of the brain to alterations in arterial blood pressure

The impact of blood pressure changes on cerebral blood flow is an important area of investigation. The cerebral autoregulation mechanism acts to maintain blood supply to the brain, despite changes in blood pressure.
Darekar, Angela Anagha
core   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Intravoxel incoherent motion MRI for early detection and assessment of renal injury after cardiac arrest and resuscitation in a rat model

European Radiology Experimental
Objective To investigate the utility of intravoxel incoherent motion (IVIM) magnetic resonance imaging (MRI) for early detection of renal injury 24 h after cardiac arrest and cardiopulmonary resuscitation.
Jie Zhang, Na Zhan, Haoyi Ye, Siqi Liu, Yunke Tan, Jinzhao Zhang, Teng Huang, Zhihua Wu, Zhengfei Yang, Zhifeng Liu   +9 more
doaj   +1 more source