Results 91 to 100 of about 70,766 (259)

Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHLR200W mutation (Chuvash polycythemia)

Haematologica, 2012
Background Patients with Chuvash polycythemia, (homozygosity for the R200W mutation in the von Hippel Lindau gene (VHL)), have elevated levels of hypoxia inducible factors HIF-1 and HIF-2, often become iron-deficient secondary to phlebotomy, and have ...
Craig A. Sable, Zakari Y. Aliyu, Niti Dham, Mehdi Nouraie, Vandana Sachdev, Stanislav Sidenko, Galina Y. Miasnikova, Lydia A. Polyakova, Adelina I. Sergueeva, Daniel J. Okhotin, Vladimir Bushuev, Alan T. Remaley, Xiaomei Niu, Oswaldo L. Castro, Mark T. Gladwin, Gregory J. Kato, Josef T. Prchal, Victor R. Gordeuk   +17 more
doaj   +1 more source

Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy

iNew Medicine, EarlyView.
This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen, Dehuan Huang, Jingcheng Sang, Yiqi Yin, Caiyun Wu, Yan Hao, Dawei Chen, Zhiguo Zhang, Yunxia Cao, Ri‐Cheng Chian, Ping Zhou   +10 more
wiley   +1 more source

Magnetocardiography combined with machine learning for pulmonary hypertension detection and improved short‐term risk assessment

Interdisciplinary Medicine, EarlyView.
Magnetocardiography (MCG) enables non‐invasive mapping of cardiac magnetic fields. In this study, an MCG‐based machine learning model detects pulmonary hypertension with robust performance. Furthermore, MCG features may improve the accuracy of short‐term risk assessment.
Yuankun Qi, Jiaqi Liang, Kai Ma, Xiaoyu Hu, Yu Zhang, Xiaole Han, Dong Xu, Xu Zhang, Xiaopei Cui, Min Xiang, Hongyu Zhang, Jiancheng Fang   +11 more
wiley   +1 more source

Asymptomatic Giant Right Ventricular Myxoma in an Adolescent: A Rare Case Report With Favorable Surgical Outcome

Journal of Clinical Ultrasound, EarlyView.
We report a 13‐year‐old female with a giant right ventricular myxoma extending to the pulmonary trunk. The tumor was diagnosed by multimodal imaging and completely resected, with favorable short‐term outcomes. ABSTRACT Right ventricular (RV) myxomas account for < 5% of cardiac myxomas and are often asymptomatic, easily overlooked.
Aizezi Maihemu, Jin Bai, Chongjun Qi, Jian Liu   +3 more
wiley   +1 more source

Prevalence and clinical significance of fetal tricuspid regurgitation during the third trimester of pregnancy

Revista Brasileira de Saúde Materno Infantil
Objectives: the aim of this study was to determine the prevalence of fetal tricuspid valve regurgitation (TR) during the third trimester of low-risk pregnancies and to assess its clinical significance on neonates.
Karina Reis de Melo Lopes, Emanuela Virginia Vale Cavalcante, Narjara Tiane Lopes de Melo, Susi Araújo Alves, João Guilherme Bezerra Alves, Alex Sandro Rolland Souza   +5 more
doaj   +2 more sources

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, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Echocardiographic evaluation of velocity ratio, velocity time integral ratio, and pulmonary valve area in dogs with pulmonary valve stenosis. [PDF]

, 2018
BackgroundVelocity ratio, velocity time integral (VTI) ratio, and pulmonary valve area indexed to body surface area (iPVA) are methods of assessment of pulmonary valve stenosis (PS) severity that are less dependent on blood flow. Studies evaluating these
Bélanger, Catherine, Gunther-Harrington, Catherine T, Nishimura, Satoko, Oldach, Maureen S, Stern, Joshua A, Visser, Lance C   +5 more
core   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Heart valve disease: investigation by cardiovascular magnetic resonance [PDF]

, 2012
Cardiovascular magnetic resonance (CMR) has become a valuable investigative tool in many areas of cardiac medicine. Its value in heart valve disease is less well appreciated however, particularly as echocardiography is a powerful and widely available ...
Saul G Myerson
core   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source