Results 101 to 110 of about 734,643 (308)

Chinese Expert Consensus on the Diagnosis and Treatment of Adult Fabry Disease Cardiomyopathy

罕见病研究
Fabry disease (FD) is an X-linked genetic disorder caused by mutations in the GLA gene. It leads to reduced or complete deficiency of the activity of α-galactosidase A (α-Gal A), resulting in an accumulation of the metabolic substrate ...
Chinese Society of Cardiology, Chinese Medical Association, Editorial Board of Chinese Journal of Cardiology   +1 more
doaj   +1 more source

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

Right Internal Jugular Vein Access for Micra Leadless Pacemaker Implantation in a High-Risk Patient with Severe Iliac Vein Stenosis: A Case Report

International Medical Case Reports Journal
Haixiang Xu, Jianfeng Qian, Wen Pan, Jianhua Fan Department of Cardiology, Kunshan Hospital of Traditional Chinese Medicine Affiliated to Yangzhou University, Suzhou, People’s Republic of ChinaCorrespondence: Jianhua Fan, Department of Cardiology ...
Xu H, Qian J, Pan W, Fan J
doaj  

Congenital Cardiology Today

, 2005
The mission of the monthly newsletter, Congenital Cardiology Today (CCT), "is to provide reliable and timely information on devices and procedures, patient therapy, drug therapy, supporting technologies, products and services, as well as training ...

core  

Cardiologie [Cardiology]

, 2013
The present review provides a selected choice of clinical research in the field of interventional cardiology, heart failure and cardiac imaging.
Vincenti, G., Schwitter, J., Yarol, N., Muller, O., Tapponnier, M., Hullin, R.   +5 more
core   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Time-Weighted Cumulative High-Sensitivity C-Reactive Protein and Risk of Cardiac Conduction Block: Findings from a Prospective Cohort

Journal of Inflammation Research
Mo Zhang,1,2,* Dou Shi,1,* Yixiu Chen,2,3 Yicheng Liao,2,3 Zhihui Liu,2,3 Renjie Fu,2,3 Yufeng Bian,2,3 Shuohua Chen,2 Haiyan Zhao,2 Honghong He,2 Changhao Zu,2 Chunlu Liu,2 Hongqiu Huo,2 Shouling Wu,2 Yuntao Wu2 1Graduate School, Hebei ...
Zhang M, Shi D, Chen Y, Liao Y, Liu Z, Fu R, Bian Y, Chen S, Zhao H, He H, Zu C, Liu C, Huo H, Wu S, Wu Y   +14 more
doaj  

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

Predictive Value of Uric Acid-to-Albumin Ratio for Left Atrial Thrombus or Spontaneous Echo Contrast in Patients with Non-Valvular Atrial Fibrillation

Journal of Inflammation Research
Xiangzhu Meng,1,* Yuhang Wen,1,* Xiangying Wang,2,* Tesfaldet Habtemariam Hidru,1 Yuqi Tang,1 Yunlong Xia,1 Xiaolei Yang,1 Lianjun Gao1 1Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital
Meng X, Wen Y, Wang X, Hidru TH, Tang Y, Xia Y, Yang X, Gao L   +7 more
doaj  

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source