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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro MussaUniversity of Turin. Regina Margherita Children’s Hospital. […]

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High-Altitude Pulmonary Edema in Two Pediatric Patients with Pre-Existing Lung Disease

Ali Alsuheel Asseri, Marei Assiri, Norah Alshehri, Noha Saad Alyazidi, Ahmed Alasmari, Saud Q. Alshabab, Nada Abdullah AsiriKing Khalid University. Abha Maternity and Children Hospital. Saudi Arabia Pediatric ReportsPediatr Rep 2024; 16: 271-277DOI: 10.3390/pediatric16020023 AbstractBackground: The illnesses associated with changes in barometric pressure can be classified into three types: acute mountain sickness, high-altitude pulmonary edema (HAPE), and

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Improvement in Echocardiographic and Diagnostic Biomarkers after Systemic Glucocorticoid Therapy in Infants with Pulmonary Hypertension

Brian S. Hernandez, Rod M. Shinozaki, R. Mark Grady, Andrea Drussa, Erica Jamro-Comer, Jinli Wang, Manish AggarwalWashington University School of Medicine. Loma Linda University Children’s Hospital. United States Journal of PediatricsJ Pediatr 2024; DOI: 10.1016/j.jpeds.2024.114116 AbstractObjective: To assess the effect of treating pulmonary hypertension (PH) in infants less than 1 year of age with systemic glucocorticoids while

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Echocardiographic assessment of cardiac function abnormalities and related risk factors in Thai overweight and obese children

Darunwan Nimpum, Worawan JitthamNaresuan University.Thailand Annals of Pediatric CardiologyAnn Pediatr Cardiol 2023; 16: 413-421DOI: 10.4103/apc.apc_134_23 AbstractBackground: Childhood obesity has become a global concern, with its prevalence steadily increasing over the past decade. This condition negatively impacts the cardiovascular system, increasing the risk of morbidity and mortality in adulthood. This study aimed to identify cardiac function abnormalities and

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Objective Quantification of Bilateral Bubble Contrast Echocardiography Correlates with Systemic Oxygenation in Patients with Single Ventricle Circulation

Ashley Phimister, Chana Bushee, Monica Merbach, Sai Alekha Challa, Amy Y. Pan, Andrew D. SpearmanMedical College of Wisconsin and Children’s Wisconsin.United States Journal of Cardiovascular Development and DiseaseJ Cardiovasc Dev Dis 2024; 11: DOI: 10.3390/jcdd11030084 AbstractBubble contrast echocardiography is commonly used to diagnose pulmonary arteriovenous malformations (PAVMs) in single ventricle congenital heart disease (CHD), yet previous

Objective Quantification of Bilateral Bubble Contrast Echocardiography Correlates with Systemic Oxygenation in Patients with Single Ventricle Circulation Read More »

Phenotypic characterisation of SMAD4 variant carriers

Claire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-GirodFemme-Mère-Enfants Hospital and Hospices Civils de Lyon. Hôpital E. Herriot. Université Claude Bernard Lyon 1. France Journal of Medical GeneticsJ Med Genet 2024; DOI: 10.1136/jmg-2023-109632 AbstractBackground: Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known

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Angiographic tool to detect pulmonary arteriovenous malformations in single ventricle physiology

Stephen B. Spurgin, Yousef M. Arar, Thomas M. Zellers, Jijia Wang, Nicolas L. Madsen, Surendranath R. Veeram Reddy, Ondine Cleaver, Abhay A. DivekarUniversity of Texas Southwestern Medical Center and Children’s Medical Center.United States Cardiology in the YoungCardiol Young 2024; DOI: 10.1017/S1047951124000933 AbstractObjective: Individuals with single ventricle physiology who are palliated with superior cavopulmonary anastomosis (Glenn surgery) may

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Sudden pediatric death unveiling pulmonary arteriovenous malformations

Hadeel Abu-El-Rub, Rashed Shatnawi, Yahia I. Abu Zetun, Doaa Ghorab, Ali M. ShotarYarmouk University. Mansoura University. Jordan University of Science and Technology School of Medicine.Jordan Autopsy Case ReportsAutops Case Rep 2024; DOI: 10.4322/acr.2024.489 AbstractPulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between pulmonary arteries and veins, often associated with hereditary hemorrhagic telangiectasia (HHT). Most PAVMs are

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Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature

Wedad Alhazmia, Afnan Qurbana, Essa AlrashidiMaternity and Children Hospital in Makkah. King Saud Medical City in Riyadh.Saudi Arabia Respiratory Medicine Case ReportsRespir Med Case Rep 2023; 44:DOI: 10.1016/j.rmcr.2023.101872 AbstractBackground: The newborn malformation of primary lymphatic dysplasia (PLD), developed primarily due to PIEZO1 gene autosomal recessive mutation, is known to hinder with the lymphatic system action, causing chyle or lymph

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