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Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature

Virginia Mirra, Margherita Rosa, Cristina Fontanella, Martina Mancuso, Fabio Antonelli, Alice Castaldo, Annalisa Allegorico, Maria Giovanna Russo, Mario Giordano, Alfonsina Tirozzi, Paolo Siani, Daniele De Bras“Santobono-Pausilipon” Children’s Hospital. University of Naples Federico II. AORN Santobono-Pausilipon. University of Campania “Luigi Vanvitelli” and “Ospedali dei Colli”. Italy ChildrenChildren 2025; 12: DOI: 10.3390/children12121701 AbstractHereditary Hemorrhagic Telangiectasia (HHT), also known […]

Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature Read More »

Long-Term Outcomes of Transarterial Embolization for Pulmonary Arteriovenous Malformations in Pediatric Hereditary Hemorrhagic Telangiectasia

Alfredo Páez-Carpio, Adeline Y. L. Lim, Alessandro Gasparetto, Michelle Shaw, Felix Ratjen, João G. AmaralHospital for Sick Children and University of Toronto. Canada Cardiovascular and Interventional RadiologyCardiovasc Intervent Radiol 2025; DOI: 10.1007/s00270-025-04322-1 AbstractPurpose: To assess long-term clinical and radiological outcomes of transarterial embolization (TAE) for pulmonary arteriovenous malformations (PAVMs) in children with hereditary hemorrhagic telangiectasia (HHT).Materials and

Long-Term Outcomes of Transarterial Embolization for Pulmonary Arteriovenous Malformations in Pediatric Hereditary Hemorrhagic Telangiectasia Read More »

Decreased endothelial cell retinoic acid signaling accelerates progression of single ventricle pulmonary arteriovenous malformations

Henry Rousseau, Tina Wan, Nhi Nguyen, Jaime Wendt Andrae, Michael Tschannen, Angela J. Mathison, Victor Jin, Olivia Groh, Xingyan Zhou, Stryder M. Meadows, Ramani Ramchandran,Igor Shmarakov, Amy Y. Pan, Andrew D. SpearmanMedical College of Wisconsin and Children’s Wisconsin. Rutgers University. Tulane University. United States bioRxivbioRxiv 2025; DOI: 10.64898/2025.12.08.693095 AbstractBackground: Pulmonary arteriovenous malformations (PAVMs) are vascular complications that

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Effects of altitude and exercise on pulmonary capillary integrity: evidence for subclinical high-altitude pulmonary edema

Marlowe W. Eldridge, Ruedi K. Braun, Ken Y. Yoneda, William F. WalbyUniversity of Wisconsin.United States Journal of Applied PhysiologyJ Appl Physiol 2006; 100: 972-980 DOI: 10.1152/japplphysiol.01048.2005 AbstractStrenuous exercise may be a significant contributing factor for development of high-altitude pulmonary edema, particularly at low or moderate altitudes. Thus we investigated the effects of heavy cycle ergometer exercise (90%

Effects of altitude and exercise on pulmonary capillary integrity: evidence for subclinical high-altitude pulmonary edema Read More »

Interventions for preventing high altitude illness: Part 2. Less commonly-used drugs

Alejandro G Gonzalez Garay, Daniel Molano Franco, Víctor H Nieto Estrada, Arturo J Martí-Carvajal, Ingrid Arevalo-RodriguezNational Institute of Pediatrics.Mexico Cochrane Database of Systemic ReviewsCochrane Database Syst Rev 2018; 3: DOI: 10.1002/14651858.CD012983 AbstractBackground: High altitude illness (HAI) is a term used to describe a group of mainly cerebral and pulmonary syndromes that can occur during travel to elevations

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Pulmonary hemodynamics in children living at high altitudes

Dante Penaloza, Francisco Sime, Luis RuizUniversity Cayetano Heredia.Peru High Altitude Medicine and BiologyHigh Altit Med Biol 2008; 9: 199-207DOI: 10.1089/ham.2008.1004 AbstractThere are numerous publications on altitude-related diseases in adults. In addition, an International Consensus Statement published in 2001 deals with altitude-related illnesses occurring in lowland children who travel to high altitudes. However, despite the millions of

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Right ventricular adaptation in congenital heart disease: Does the type of right ventricular overload matter?

Renee S. Joosen, Gregor J. Krings, Heleen B. van der Zwaan, Nefise Karaman, Marco Guglielmo, Lucas R. Celant, Marco J. W. G€otte, Michael G. Dickinson, Michiel Voskuil, Marielle C. van de Veerdonk, Johannes M. P. J. BreurUniversity Medical Center Utrecht. Amsterdam University Medical Center and University of Amsterdam. Netherlands Journal of Thoracic and Cardiovascular Surgery

Right ventricular adaptation in congenital heart disease: Does the type of right ventricular overload matter? Read More »

Neonatologist-Performed Echocardiography in Neonatal Pulmonary Hypertension: A Narrative Review of the Literature

Anna Chiara Titolo, Mandy Ferrocino, Eleonora Biagi, Luisa Rizzo, Hajrie Seferi, Valentina Dell’Orto, Serafina Perrone, Susanna EspositoParma University Hospital and University of Parma.Italy DiagnosticsDiagnostics 2025; 15: DOI: 10.3390/diagnostics15243154 AbstractNeonatal pulmonary hypertension (PH) is a major cause of illness and death in newborns. Neonatologist-performed echocardiography (NPE) is increasingly used as a bedside tool to assess heart function,

Neonatologist-Performed Echocardiography in Neonatal Pulmonary Hypertension: A Narrative Review of the Literature Read More »

Construction of an early diagnostic model for pulmonary hypertension based on aging-related signature genes and identification of potential therapeutic targets

MengzeWang, Jiafei Lu, Xinyu Li, Huating Xie, Junjie Liang, Jun Luo, Xishu Deng, Guoquan Pan, Bowen Ji, Xiaojie DingKunming Children’s Hospital. Southern Medical University. Second Affiliated Hospital and Yuying Children’s Hospital of Wenzhou Medical University. Taizhou Central Hospital (Taizhou University Hospital). Second Hospital of Jiaxing and Second Affiliated Hospital of Jiaxing University. Zhejiang Rongjun Hospital.

Construction of an early diagnostic model for pulmonary hypertension based on aging-related signature genes and identification of potential therapeutic targets Read More »

Child health and living at high altitude

Susan Niermeyer, P. Andrade Mollinedo, L. HuichoUniversity of Colorado School of Medicine and Children’s Hospital of Colorado. Caja Nacional de Salud and Clínica del Sur and Clínica Alemana. Universidad Nacional Mayor de San Marcos and Universidad Peruana Cayetano Heredia.United States, Bolivia and Peru Archives of Disease in ChildrenArch Dis Child 2009; 94: 806-811DOI: 10.1136/adc.2008.141838 AbstractThe health of

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