Results 121 to 130 of about 1,813,312 (309)

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +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

Outcomes after cryoablation vs. radiofrequency in patients with paroxysmal atrial fibrillation: impact of pulmonary veins anatomy.

Europace, 2016
Z. Khoueiry, J. Albenque, R. Providência, S. Combes, N. Combes, F. Jourda, P. Sousa, C. Cardin, J. Pasquié, T. Cung, F. Massin, E. Marijon, E. Marijon, S. Boveda   +13 more
semanticscholar   +1 more source

Regional gas exchange evaluation during ex vivo lung perfusion in a swine model of localized lung dysfunction

Animal Models and Experimental Medicine, EarlyView.
Abstract Background Ex vivo lung perfusion (EVLP) allows the evaluation of lungs that do not meet standard transplantation criteria. Current procedures do not permit the identification of regional functional deficits. We investigated the feasibility of assessing lobar gas exchange during EVLP in a swine model.
Giulia Maria Ruggeri, Elena Chiodaroli, Matteo Montoli, Sara Pieropan, Alessandro Santini, Gianluca Lopez, Michele Battistin, Luigi Vivona, Sebastiano Maria Colombo, Jacopo Fumagalli, Eleonora Carlesso, Stefano Ferrero, Lorenzo Rosso, Stefano Gatti, Antonio Maria Pesenti, Giacomo Grasselli, Alberto Zanella   +16 more
wiley   +1 more source

Age‐associated immune dysregulation links to disease severity in macrolide‐resistant Mycoplasma pneumoniae pneumonia: Insights from a comparative juvenile–adult mouse model

Animal Models and Experimental Medicine, EarlyView.
Macrolide‐resistant Mycoplasma pneumoniae (MRMP) infected both juvenile and adult mice, with results compared to normal juvenile mice. The findings revealed comparable bacterial loads between juvenile and adult mice, yet juvenile mice exhibited more severe lung damage and elevated levels of inflammatory cytokines.
Xuejun Li, Yudong Wang, Liyong Liu, Mengmeng Gong, Jinlong Wang, Yuqing Cao, Zhixin Sun, Fanliang Meng, Qiuyan Wang, Hongji Wu, Fei Zhao, Yan Ma, Yibai Xiong   +12 more
wiley   +1 more source

Initiation of atrial fibrillation by ectopic beats originating from the pulmonary veins: electrophysiological characteristics, pharmacological responses, and effects of radiofrequency ablation.

Circulation, 1999
Shih-Ann Chen, M. Hsieh, C. Tai, C. Tsai, V. Prakash, W. Yu, T. Hsu, Y. Ding, M. Chang   +8 more
semanticscholar   +1 more source

A novel rat model of pulmonary artery embolism and the application value of lung ultrasound B‐lines in early‐stage pulmonary embolism

Animal Models and Experimental Medicine, EarlyView.
We report a novel embolus‐induced PE rat model prepared via the inferior vena cava under ultrasound guidance. The embolus employed featured a tubular plastic casing filled with thrombus. By minimizing the contact surface between plasmin and thrombus, it effectively restrains the elevated plasmin activity in rats.
Huide Ma, Shuangrui Wang, Honghui Li, Yaxing Zhang, Yuman Gao, Jie Zhou, Xia Xu, Rong Wu   +7 more
wiley   +1 more source

Analysis of energy expenditure and behavioral characteristics in different mouse strains under normal and disease conditions

Animal Models and Experimental Medicine, EarlyView.
Mouse metabolic and behavioral phenotypes are tightly linked to strain, age and disease state, with distinct dysregulation in each disease model, underscoring the need for standardized preclinical experimental conditions. Abstract Background Metabolic and behavioral traits in mice exhibit substantial variability across strains, ages, and disease states,
Jiacheng Zeng, Yuanjun Ji, Yan Zou, Jing Tan, Teng Wu, Conghui Shen, Tongsheng Huang, Shijie Xiong, Mengying Liu, Maoquan Yang, Jingwei Lai, Jiangwei Ma, Junhong Wan, Xinlu Fu, Jiang Qian, Hui Li, Ludong Yuan, Weibin Cai   +17 more
wiley   +1 more source

Cryoballoon ablation of pulmonary veins for paroxysmal atrial fibrillation: first results of the North American Arctic Front (STOP AF) pivotal trial.

Journal of the American College of Cardiology, 2013
D. Packer, R. Kowal, K. Wheelan, J. Irwin, J. Champagne, P. Guerra, M. Dubuc, V. Reddy, Linda Nelson, R. Holcomb, John W. Lehmann, J. Ruskin   +11 more
semanticscholar   +1 more source