Results 41 to 50 of about 179,448 (258)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Refining a preclinical model of viral myocarditis in accordance with biotech standards

Animal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source

What went wrong? The flawed concept of cerebrospinal venous insufficiency [PDF]

, 2013
In 2006, Zamboni reintroduced the concept that chronic impaired venous outflow of the central nervous system is associated with multiple sclerosis (MS), coining the term of chronic cerebrospinal venous insufficiency ('CCSVI'). The diagnosis of 'CCSVI' is
Schreiber, SJ, Doepp, F, Schreiber, S.J., Paul, F., van Oosten, BW, Wattjes, MP, Paul, F, Valdueza, JM, Doepp, F., Wattjes, M.P., Schmierer, K, Valdueza, J.M., Schmierer, K., van Oosten, B.W.   +13 more
core   +1 more source

A Large Retrospective Study to Evaluate Utility of Zephyr Covered Stent in Transcatheter Closure of Sinus Venosus Defects

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Background Transcatheter closure (TCC) of sinus venosus defects (SVD) using balloon‐expandable covered stents is an emerging alternative to surgery. ZephyrCS (Sahajanand Laser Technologies, Gandhinagar, India) is available in long lengths to suit SVD closure.
Pramod Sagar, Puthiyedath Thejaswi, Kothandam Sivakumar, Praveen Ashok Kumar   +3 more
wiley   +1 more source

Clinical assessment and echocardiography follow-up results of the children with acute rheumatic fever

American Journal of Experimental and Clinical Research, 2016
Acute rheumatic fever (ARF) is an inflammatory collagenous tissue disease which shows its cardinal signs in joints, heart, skin and nervous system while affecting whole connective tissue system more or less.
Ahmet Basturk, Kazim Oztarhan, Sultan Kavuncuoglu, Cemal Polat   +3 more
doaj   +2 more sources

MELD score predicts outcomes in patients with advanced heart failure: A longitudinal evaluation

ESC Heart Failure, Volume 12, Issue 2, Page 839-847, April 2025.
Abstract Aims Advanced heart failure (AHF) is characterized by recurrent episodes of haemodynamic instability and frequent hospitalizations, leading to a progressive decline in quality of life and high mortality rates. The objectives of this study were to evaluate the effect of the model for end‐stage liver disease (MELD) score and its variations in ...
Francesco Curcio, Cristiano Amarelli, Rosaria Chiappetti, Irene Mattucci, Veronica Flocco, Mahmoud Issa Rammal, Ciro Abete, Francesca Mazzella, Ciro Maiello, Pasquale Abete, Francesco Cacciatore   +10 more
wiley   +1 more source

The potential of mitral valve quantification in cardiovascular surgery

Alʹmanah Kliničeskoj Mediciny, 2018
Objective: To identify specifics of mitral valve anatomy in patients with mitral insufficiency of various origin using the Mitral Valve Quantification (MVQ) technique for an optimal choice of mitral valve repair strategy. Materials and methods: The study
A. A. Tolstikhina, T. V. Mashina, D. V. Mrikaev, V. S. Dzhanketova, O. I. Gromova, E. Z. Golukhova   +5 more
doaj   +1 more source

Increasing Temporal Resolution of 3D Transesophageal Ultrasound by Rigid Body Registration of Sequential, Temporally Offset Sequences [PDF]

, 2010
A description of mitral valve function requires both an accurate anatomical description of the three-dimensional (3D) structure as well as a description of the leaflets' rapid motion.
Brady, MaryBeth, Ngo, Tri, Laura Fernandez-de-Manuel, David D. Yuh, Fernández de Manuel, Laura, Daniel A. Herzka, Yuh, David D., Contijoch, Francisco, Tri Ngo, Elliot R. McVeigh, Stearns, Joshua, McVeigh, Elliot R., Andres Santos, Santos Lleo, Andres de, Francisco Contijoch, Kelly L. Grogan, Maria J. Ledesma-Carbayo, Grogan, Kelly L., MaryBeth Brady, Herzka, Daniel A., Joshua Stearns, Philippe M. Burlina, Burlina, Philippe M., Ledesma Carbayo, María Jesús   +23 more
core   +1 more source

Transthyretin amyloid cardiomyopathy: Literature review and red‐flag symptom clusters for each cardiology specialty

ESC Heart Failure, Volume 12, Issue 2, Page 955-967, April 2025.
Abstract Wild‐type transthyretin amyloid cardiomyopathy (ATTRwt‐CM) is a progressive and infiltrative cardiac disorder that may cause fatal consequences if left untreated. The estimated survival time from diagnosis is approximately 3–6 years. Because of the non‐specificity of initial symptom manifestation and insufficient awareness among treating ...
Yasuhiro Izumiya, Toru Kubo, Jin Endo, Seiji Takashio, Masatoshi Minamisawa, Jun Hamada, Tomonori Ishii, Hajime Abe, Hiroaki Konishi, Kenichi Tsujita   +9 more
wiley   +1 more source

Hammock mitral valve: A rare cause of congenital mitral regurgitation – A case report

Indian Heart Journal, 2014
Hammock valve, also known as anomalous mitral arcade is a rare mechanism for congenital mitral insufficiency. We report a case of a two-week-old neonate who presented with features of heart failure and an apical systolic murmur.
Gopalan Nair Rajesh, Kalathingathodika Sajeer, Anishkumar Nair, Chakanalil Govindan Sajeev, Mangalath Narayanan Krishnan   +4 more
doaj   +1 more source