Results 271 to 280 of about 5,069,987 (401)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Right Ventricular Pressure Waveform Analysis-Clinical Relevance and Future Directions. [PDF]

J Cardiothorac Vasc Anesth
Heerdt PM, Kheyfets VO, Oakland HT, Joseph P, Singh I.   +4 more
europepmc   +1 more source

Clinical Reproducibility of the Visual Echocardiographic Scoring System of the Left Ventricular Filling Pressure [PDF]

Yuka Uruma, Michito Murayama, Wahei Uemura, Nozomu Sakai, Masanori Shimomura, Kazuhiko Nozaki, Yasuyuki Kunieda   +6 more
openalex   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Application of the Left Ventricular Pressure-Strain Loop Technique in Monitoring Improvement Factors of Patients With Heart Failure Reduced Ejection Fraction. [PDF]

Cardiovasc Ther
Li Q, Guo Y, Tang X, Liu C, Wang Z, Gao Q, Li Y, Cao J.   +7 more
europepmc   +1 more source

Validation of Myocardial Acceleration During Isovolumic Contraction as a Novel Noninvasive Index of Right Ventricular Contractility: Comparison With Ventricular Pressure-Volume Relations in an Animal Model

Circulation, 2002
M. Vogel, M. Schmidt, S. Kristiansen, M. Cheung, P. White, K. Sørensen, A. Redington   +6 more
semanticscholar   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Artificial intelligence-enabled reconstruction of the right ventricular pressure curve using the peak pressure value: a proof-of-concept study. [PDF]

Eur Heart J Imaging Methods Pract
Szijártó Á, Nicoara A, Podgoreanu M, Tokodi M, Fábián A, Merkely B, Sárkány A, Tősér Z, Caravita S, Baratto C, Tomaselli M, Muraru D, Badano LP, Lakatos B, Kovács A.   +14 more
europepmc   +1 more source

254 Effects of treatment with erythropoietin on the left ventricular filling pressure in patients with chronic heart failure [PDF]

, 2005
Bernard Cosyns, M. Mantia, P. Lancellotti, Luc Piérard   +3 more
openalex   +1 more source

Chronic right ventricular pressure overload results in a hyperplastic rather than a hypertrophic myocardial response

Journal of Anatomy, 2008
Boudewijn P. J. Leeuwenburgh, W. Helbing, A. Wenink, P. Steendijk, R. de Jong, E. Dreef, A. G. Gittenberger-de Groot, J. Baan, A. van der Laarse   +8 more
semanticscholar   +1 more source