Symptoms and Findings Associated with Pulmonary Vascular Disease

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

Alicia B. Byrne, Pascal Brouillard, Drew L. Sutton, Jan Kazenwadel, Saba Montazaribarforoushi, Genevieve A. Secker, Anna Oszmiana, Milena Babic, Kelly L. Betterman, Peter J. Brautigan, Melissa White, Sandra G. Piltz, Paul Q. Thomas, Christopher N. Hahn, Matthias Rath, Ute Felbor, G. Christoph Korenke, Christopher L. Smith, Kathleen H. Wood, Sarah E. Sheppard, Denise M. Adams, […]

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Congenital Chylothorax of the Newborn: A Systematic Analysis of Published Cases between 1990 and 2018

Bernhard Resch, Gülsen Sever Yildiz, Friedrich ReitererMedical University of GrazAustria RespirationRespiration 2022; 101: 84-96DOI: 10.1159/000518217 AbstractBackground: Congenital chylothorax (CCT) of the newborn is a rare entity but the most common cause of pleural effusion in this age-group. We aimed to find the optimal treatment strategy.Material and methods: A PubMed search was performed according to the PRISMA criteria. All

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Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Viktor Lukacs, Jayanti Mathur, Rong Mao, Pinar Bayrak-Toydemir, Melinda Procter, Stuart M. Cahalan, Helen J. Kim, Michael Bandell, Nicola Longo, Ronald W. Day, David A. Stevenson, Ardem Patapoutian, Bryan L. KrockThe Scripps Research Institute. Genomics Institute of the Novartis Research Foundation. ARUP Institute for Clinical and Experimental Pathology. University of Utah. Stanford University. Children’s Hospital

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Chylothorax in newborns after cardiac surgery: a rare complication?

Alba Perez-Perez, Sara Vigil-Vazquez, Ana Gutierrez-Velez, Gonzalo Solis-Garcia, Maria Lopez-Blazquez, Jose Luis Zunzunegui Martinez, Constancio Medrano Lopez, Juan Miguel Gil-Jaurena, Juan Carlos de Agustin-Asensio, Manuel Sanchez-LunaHospital General Universitario Gregorio Marañón. The Hospital for Sick Children. Spain and Canada European Journal of PediatricsEur J Pediatr 2023; DOI: 10.1007/s00431-023-04808-5 AbstractThe aim of this study was to analyze patients

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Pearls & Oy-sters: Cerebral Abscess Secondary to Pulmonary Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia

Jodie I. Roberts, Kristine Woodward, Adam Kirton, Michael J. EsserUniversity of Calgary; Alberta Children’s Hospital Research Institute.Canada NeurologyNeurology 2022; 98: 292-295DOI: 10.1212/WNL.0000000000013181 AbstractHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition that is linked to a myriad of neurologic complications arising from vascular malformations of the brain, spinal cord, and lungs. Our case describes a previously

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Pulmonary arteriovenous malformations: A case of missed diagnosis in a neonate

Zurina Zainudin, Nadiah Azlisham, Ghee Tiong Koh, Yinn Khurn Ooi, Melissa Anne NunisUniversiti Putra Malaysia. Hospital Pakar Sultanah Fatimah. Hospital Serdang.Malaysia Medical Journal of MalaysiaMed J Malaysia 2022; 77: 274-276DOI: Not available AbstractPulmonary arteriovenous malformation (PAVM) is a congenital vascular abnormality that can cause persistent cyanosis in children. PAVMs can go undetected till adulthood; however,

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Brain Abscess and Stroke in Children and Adults With Hereditary Hemorrhagic Telangiectasia: Analysis of a Large National Claims Database

Andrew J. White, Itay Marmor, Kate M. Peacock, Katelin B. Nickel, Jessica Zavadil, Margaret A. OlsenSaint Louis University School of Medicine. Washington University School of Medicine.United States NeurologyNeurology 2023; DOI: 10.1212/WNL.0000000000207269 AbstractObjective: Hereditary hemorrhagic telangiectasia (HHT) is an inherited disease associated with pathogenic variants in TGF-β signaling pathway-related genes, resulting in abnormal vascular development in various organs.

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Effects of a Long-Term Wearable Activity Tracker-Based Exercise Intervention on Cardiac Morphology and Function of Patients with Cystic Fibrosis

Maria Anifanti, Stavros Giannakoulakos, Elpis Hatziagorou, Asterios Kampouras, John Tsanakas, Asterios Deligiannis, Evangelia KouidiAristotle University of Thessaloniki and Hippokration Hospital. Greece SensorsSensors 2022; 22: DOI: 10.3390/s22134884 AbstractSeveral studies have shown that patients with cystic fibrosis (CF), even at a young age, have pulmonary and cardiac abnormalities. The main complications are cardiac right ventricular (RV) systolic and/or

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Long-Term Study on Therapeutic Strategy for Treatment of Eisenmenger Syndrome Patients: A Case Series Study

Yi-Ching Liu, Yu-Wen Chen, I-Chen Chen, Yen-Hsien Wu, Shih-Hsing Lo, Jui-Sheng Hsu, Jong-Hau Hsu, Bin-Nan Wu, Yi-Fang Cheng, Zen-Kong DaiKaohsiung Medical University Hospital. Taiwan ChildrenChildren 2022; 9: DOI: 10.3390/children9081217 AbstractEisenmenger syndrome (ES) refers to congenital heart diseases (CHD) with reversal flow associated with increased pulmonary pressure and irreversible pulmonary vascular remodeling. Previous reports showed limited therapeutic

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Case Report: A Rare Syncope Case Caused by Abernethy II and a Review of the Literature

Xue-qin Lin, Jing-yi Rao, Yi-fei Xiang, Li-wei Zhang, Xiao-ling Cai, Yan-song Guo, Kai-yang LinShengli Clinical Medical College of Fujian Medical University and Fujian Provincial Hospital. Fujian Clinical Medical Research Center for Cardiovascular Diseases.China Frontiers in Cardiovascular DiseaseFront Cardiovasc Dis 2022; 8: DOI: 10.3389/fcvm.2021.784739 AbstractBackground: Abernethy malformation is an extremely rare anomaly of the splanchnic venous system, and

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