Results 11 to 20 of about 311,710 (149)

Analysis of echocardiographic parameters suggestive of pulmonary hypertension in patients with heart failure with preserved ejection fraction and assessment of clinical features favoring development of the PH-phenotype

Annales Academiae Medicae Silesiensis
Introduction: Heart failure with preserved ejection fraction (HFpEF) is characterized by left ventricle (LV) diastolic dysfunction. Impaired diastolic function induces pulmonary congestion and leads to postcapillary pulmonary hypertension (PH), which is ...
Julia Dołęga, Katarzyna Ciekot, Aleksandra Owczarska, Gabriela Majta, Michał Macnar, Klaudia Marcinkiewicz, Katarzyna Mizia-Stec   +6 more
doaj   +1 more source

From thread to yarn, and yarn to thread: a complex case of persistent left superior vena cava

Annales Academiae Medicae Silesiensis
Introduction: Persistent left superior vena cava (PLSVC) is a rare venous anomaly, occurring in 0.3–0.5% of the general population and up to 4.3% of patients with heart defects. It forms from the junction of the left subclavian and internal jugular veins,
Julia Dołęga, Natalia Lekston, Karolina Krzywiecka, Aleksandra Machnik, Katarzyna Mizia-Stec   +4 more
doaj   +1 more source

Prognostic role of exercise intensity in familial Filamin C truncating variants

Open Heart
Background Truncating variants in the Filamin C (FLNCtv) gene are causative of highly arrhythmogenic cardiomyopathies. Guidelines remain controversial concerning competitive and high-intensity sports for FLNCtv carriers.
Flavio Luciano Ribichini, Marta Gigli, Marco Merlo, Gianfranco Sinagra, Luisa Mestroni, Matteo Dal Ferro, Maria Perotto, Irena Tavčar, Martina Setti, Giulio Savonitto, Alessia Paldino, Samuel Furlan   +11 more
doaj   +1 more source

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 more
wiley   +1 more source

Hospitalization Through Families’ Eyes: Comparing Inpatient Care Quality for Children With Sickle Cell Disease and Cystic Fibrosis in Canada

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a chronic, inherited hemoglobinopathy that requires frequent hospitalization for disease‐related complications. Canadian data on inpatient care is limited. This study compared caregiver‐reported hospital experiences of children with SCD to those with cystic fibrosis (CF), a chronic, autosomal recessive ...
Hailey M. Zwicker, Kyle Kemp, Perri Tutelman, Sharon H. J. Hou, Paul Fairie, Maria Santana, Gregory M. T. Guilcher, Taryn Fay‐McClymont, Glenda Bendiak, Wendy Pelletier, Nicola Wright, Fiona Schulte   +11 more
wiley   +1 more source

Serological Benefit of SARS‐CoV‐2 Vaccination Relative to Infection in Children With Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with acute lymphoblastic leukemia (ALL) are at risk of severe outcomes from SARS‐CoV‐2 (SCV2). In the post‐pandemic context, where most children have been infected with SCV2, there are limited data on whether vaccination remains beneficial in children with ALL.
Janna R. Shapiro, Freda Qi, Karen Colwill, Alina D. Dorogy, Ying Liu, Michelle Science, Anne‐Claude Gingras, James M. Rini, Sumit Gupta, Sarah Alexander, Shelly Bolotin, Tania H. Watts   +11 more
wiley   +1 more source

Deep Sequencing of FLT3‐ITD Enables Response Evaluation and Post‐Treatment Monitoring in Childhood AML: An Exploratory Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background An internal tandem duplication in the gene encoding Fms‐like tyrosine kinase 3 (FLT3‐ITD) is associated with high relapse risk and poor prognosis in acute myeloid leukemia (AML) and plays a crucial role in treatment decisions. Measurable residual disease (MRD) analysis of FLT3‐ITD during and after treatment has shown prognostic ...
Sofie Johansson Alm, Bea Tornberg, Erik Delsing Malmberg, Henrik Hasle, Kristian Løvvik Juul‐Dam, Lars Palmqvist, Borhan R. Saeed, Giti Shah Barkhordar, Anastasia Soboli, Anna Staffas, Jonas Abrahamsson, Linda Fogelstrand   +11 more
wiley   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy

Frontiers in Cell and Developmental Biology, 2023
Introduction: LMNA-related muscular dystrophy is a rare entity that produce “laminopathies” such as Emery–Dreifuss muscular dystrophy (EDMD), limb–girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD).
Sergi Cesar, Sergi Cesar, Sergi Cesar, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Jose Cruzalegui, Jose Cruzalegui, Jose Cruzalegui, Victori Fiol, Victori Fiol, Victori Fiol, Isaac Moll, Isaac Moll, Isaac Moll, Estefania Martínez-Barrios, Estefania Martínez-Barrios, Estefania Martínez-Barrios, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Daniel Natera-de Benito, Daniel Natera-de Benito, Carlos Ortez, Carlos Ortez, Laura Carrera, Laura Carrera, Jessica Expósito, Jessica Expósito, Rubén Berrueco, Carles Bautista-Rodriguez, Carles Bautista-Rodriguez, Ivana Dabaj, Marta Gómez García-de-la-Banda, Susana Quijano-Roy, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Andrés Nascimento, Andrés Nascimento, Andrés Nascimento, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada   +47 more
doaj   +1 more source