Results 51 to 60 of about 23,027 (232)

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

Quantification of Superficial Venous Reflux by Duplex Ultrasound - Role of Peak Reflux Velocity and Reflux Time in the Assessment of Varicose Vein

Journal of Nepal Health Research Council, 2020
Background: The study compared the peak reflux velocity and reflux time in cases of varicose veins and non-varicose veins with a focus on quantifying the reflux parameters. Methods: This is a hospital based observational comparative study.
Amit Kumar Singh, Robin Man Karmacharya, Satish Vaidya, Pratima Thapa   +3 more
doaj   +1 more source

Venous reflux in symptom-free vascular surgeons [PDF]

Journal of Vascular Surgery, 1995
Work posture and occupation are among the most controversial predisposing factors associated with venous disease. We examined the distribution and extent of venous reflux in the lower extremities of symptom-free vascular surgeons, who were typically classified as leading a life of prolonged standing, in comparison to a group of symptom-free volunteers ...
Labropoulos, Nicos, Delis, Kostas T., Nicolaides, Andrew N.   +2 more
openaire   +2 more sources

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

US duplex findings in chronic venous insufficiency of the lower limbs in 500 Mexican patients

Journal of the Mexican Federation of Radiology and Imaging
Introduction: There are few reports of ultrasound (US) duplex findings in patients with chronic venous insufficiency (CVI). The aims of this study were (1) to describe CVI ultrasound findings of the lower limbs in Mexican patients according to sex and ...
Mauricio Figueroa-Sanchez, M. Fernanda Lopez-Mendoza, Simmons D. Gough, J.M. Ignacio Lopez-Mendez   +3 more
doaj   +1 more source

Avaliação do refluxo venoso superficial ao mapeamento dúplex em portadores de varizes primárias de membros inferiores: correlação com a gravidade clínica da classificação CEAP Evaluation of venous reflux by color duplex scanning in patients with varicose veins of the lower limbs: correlation with clinical severity by CEAP classification

Jornal Vascular Brasileiro, 2009
Contexto: As alterações de pele manifestadas na insuficiência venosa crônica têm como etiologia mais comum o refluxo venoso. Alguns autores relatam que o refluxo venoso superficial é responsável por 40-60% das úlceras de perna nos portadores de varizes ...
Áurea Regina Teixeira de Andrade, Guilherme Benjamin Brandão Pitta, Aldemar Araújo Castro, Fausto Miranda Júnior   +3 more
doaj   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

Comparison of brain vessel imaging from transtemporal and transcondylar approaches using contrast-enhanced transcranial color-coded duplex sonography and Virtual Navigator

Biomedical Papers, 2015
Aims: The transcondylar approach is a new and used for detection of chronic cerebro-spinal venous insufficiency (CCSVI) and intracranial venous reflux in patients with multiple sclerosis.
David Skoloudik, Martin Kuliha, Martin Roubec, Jaroslav Havelka, Katerina Langova, Roman Herzig   +5 more
doaj   +1 more source

Definition of venous reflux in lower-extremity veins [PDF]

Journal of Vascular Surgery, 2003
This prospective study was designed to determine the upper limits of normal for duration and maximum velocity of retrograde flow (RF) in lower extremity veins.Eighty limbs in 40 healthy subjects and 60 limbs in 45 patients with chronic venous disease were examined with duplex scanning in the standing and supine positions.
Labropoulos, Nicos, Tiongson, Jay, Pryor, Landon, Tassiopoulos, Apostolos K, Kang, Steven S, Ashraf Mansour, M, Baker, William H   +6 more
openaire   +2 more sources

A narrow bandgap Schottky heterojunction Fe2N/CeO2 microneedle triggering sonodynamic reactive oxygen species storm for drug‐resistance‐free skin fungal infection

BMEMat, EarlyView.
Inorganic sonosensitizers suffer from inefficient electron‐hole separation, rapid recombination, and wide bandgaps in anti‐fungal applications. We propose MN@Fe2N/CeO2 to directly eliminate fungi without drug resistance. Combining semiconductor CeO2's advantages with Fe2N's high work function and activity enables efficient Schottky heterojunctions ...
Li Wang, Jiayi Yang, Ning Tang, Youbin Zheng, Yichao Hou, Chutong Liu, Lihao Guo, Yingying Liao, Gandong Zhou, Weiwei Wu, Xin Du, Shuxiang Xu, Jie Yin, Miaomiao Yuan   +13 more
wiley   +1 more source