Results 61 to 70 of about 323,196 (317)

Evaluation of left atrial volume and function using single-beat real-time three-dimensional echocardiography in atrial fibrillation patients

BMC Medical Imaging, 2017
Background This study was aimed to evaluate the feasibility and accuracy of real-time three-dimensional echocardiography (RT-3DE) measurement of left atrial (LA) volume and function in comparison with two-dimensional echocardiography (2DE) measurements ...
Qian Zhang, Ju-fang Wang, Qing-qing Dong, Qing Yan, Xiang-hong Luo, Xue-ying Wu, Jian Liu, Ya-ping Sun   +7 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Left ventricular systolic function changes in hypertrophic cardiomyopathy patients detected by the strain of different myocardium layers and longitudinal rotation

BMC Cardiovascular Disorders, 2017
Background Impairment of left ventricular (LV) longitudinal function has an important role in hypertrophic cardiomyopathy (HCM). This research investigated an association between the longitudinal strain of different myocardial layers, longitudinal ...
Jun Huang, Zi-Ning Yan, Li Fan, Yi-Fei Rui, Xiang-Ting Song   +4 more
doaj   +1 more source

Layer-specific speckle tracking analysis of left ventricular systolic function and synchrony in maintenance hemodialysis patients

BMC Cardiovascular Disorders, 2020
Background This study investigated the value of layer-specific strain analysis by two-dimensional speckle tracking echocardiography (2D-STE) for evaluating left ventricular (LV) systolic function and synchrony in maintenance hemodialysis (MHD) patients ...
Chang Liu, Zi-Ning Yan, Li Fan, Jun Huang, Dan Shen, Xiang-Ting Song   +5 more
doaj   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Knockdown of DVL2 inhibits vascular smooth muscle cell proliferation and migration

Scientific Reports
Despite advancements in drug-eluting stent technology, the incidence of in-stent restenosis (ISR) remains around 5–10%. The complex mechanisms of ISR are primarily based on the proliferation and migration of vascular smooth muscle cells (VSMCs).
Lei Li, Yujuan Yao, Yao Wang, Jing Dong, Pingyang Zhang   +4 more
doaj   +1 more source

Impact of age on pulmonary artery systolic pressures at rest and with exercise

Echo Research and Practice, 2016
Aim: It is not well known if advancing age influences normal rest or exercise pulmonary artery pressures. The purpose of the study was to evaluate the association of increasing age with measurements of pulmonary artery systolic pressure at rest and with ...
Garvan C Kane, Arun Sachdev, Hector R Villarraga, Naser M Ammash, Jae K Oh, Michael D McGoon, Patricia A Pellikka, Robert B McCully   +7 more
doaj   +1 more source

Advances in Echocardiography

Veterinary Clinics of North America: Equine Practice, 1991
Before the development of echocardiography, cardiac disease in the horse was diagnosed if a loud heart murmur (grade III-IV/VI or louder) and clinical signs of congestive heart failure (coughing, edema, venous distention, jugular pulsations) were detected on physical examination.
openaire   +2 more sources