Results 121 to 130 of about 38,092 (270)

Cardiovascular Health in Women—Across the Lifespan

Clinical Endocrinology, EarlyView.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar, Jessica Yao, Simone Gong, Madhuka Wijayarathne, Monique Watts, Swati Mukherjee   +5 more
wiley   +1 more source

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, Clémence Vanlerberghe, Anne Dieux, Laura Feyereisen, Florence Jobic, Laurence Lode, Gwenael Le Guyader, Florence Petit, Elise Schaefer, Khaoula Zaafrane‐Khachnaoui, Alban Ziegler, Olivier Patat   +13 more
wiley   +1 more source

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

Clinical Genetics, EarlyView.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini, Maria Pina Concas, Stefania Zampieri, Iris Scala, Claudio Graziano, Anna Maria Innoceta, Marina Trivisano, Angela De Dominicis, Gabriele Trimarchi, Livia Garavelli, Margherita Baldassarri, Ilaria De Maggio, Francesca Mari, Donatella Greco, Paolo Gasparini   +14 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Arrhythmias After Tetralogy of Fallot Repair [PDF]

, 2005
Tetralogy of Fallot is the most common cyanotic congenital heart disease, with a good outcome after total surgical correction. In spite of a low perioperative mortality and a good quality of life, late sudden death remains a significant clinical problem,
Daliento, Luciano, Folino, Antonio Franco   +1 more
core   +1 more source

Role of Histone Deacetylase and Inhibitors in Cardiovascular Diseases

Cell Proliferation, EarlyView.
HDACs play an important role in the occurrence and development of cardiovascular diseases, such as myocardial hypertrophy, hypertension, and atherosclerosis. HDAC inhibitors have broad prospects for the treatment of CVD, and different HDAC subtypes can act through different mechanisms.
Li‐Ying Zhang, Yue‐Yue Wang, Ri Wen, Tie‐Ning Zhang, Ni Yang   +4 more
wiley   +1 more source

Real-time three-dimensional ultrasound : a valuable new tool in preoperative assessment of complex congenital cardiac disease [PDF]

, 2003
Evaluating complex cardiac defects in small children preoperatively requires multiple diagnostic procedures including echocardiography, and also invasive methods such as cardiac catheterisation, computer-tomography and magnetic resonance imaging.
Dalla Pozza, Robert, Kozlik-Feldmann, Rainer, Netz, Heinrich, Romer, U.   +3 more
core  

Collagen XV preserves heart function and protects from pathological remodelling after myocardial infarction

The FEBS Journal, EarlyView.
The damage caused by myocardial infarction is exacerbated in the absence of collagen XV and leads to pathological remodelling and more severe left ventricle dysfunction (left panel) compared with the wild‐type littermates. These changes are accompanied by a wide‐ranging impact, including phenotypical (middle panel) and molecular (right panel) changes ...
Sanna‐Maria Karppinen, Miki Aho, Zoltan Szabo, Johanna Magga, Laura Vainio, Erhe Gao, Paul Janmey, Lauri Eklund, Karolina Rasi, Ilkka Miinalainen, Lynn Y. Sakai, Lasse Pakanen, Heikki Huikuri, Juhani Junttila, Risto Kerkelä, Taina Pihlajaniemi   +15 more
wiley   +1 more source

Challenging right ventricular pacing in a patient with transitional atrioventricular septal defect

Romanian Journal of Cardiology
A 56-year-old woman, known in her past medical history with uncorrected atrioventricular septal defect, secondary pulmonary hypertension, and permanent atrial fibrillation, with repeated hospitalizations for congestive heart failure over the years ...
Stoiculescu Flavia-Mihaela, Hădăreanu Diana-Ruxandra, Ungureanu Adrian, Moise Cristiana Gianina, Florescu Cristina, Donoiu Ionuţ   +5 more
doaj   +1 more source

Associations Between Frailty, Family Functioning, and Quality of Life in Adolescents With Congenital Heart Disease: A Cross‐Sectional Study

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim To examine the relationship between frailty status, family functioning, and quality of life in adolescents with congenital heart disease (CHD). Background Frailty is a rarely assessed health outcome in adolescents. Despite advances in paediatric CHD treatment, potential complications may cause frailty, affecting family dynamics and quality
Chen‐Yan Huang, Ching‐I Chen, Hung‐Tao Chung, Chun‐Wei Lu, Ming‐Tai Lin, Jou‐Kou Wang, Chieh‐Yu Liu, Chi‐Wen Chen   +7 more
wiley   +1 more source