Nidhy P. Varghese, Eric D. Austin, Csaba Galambos, Mary P. Mullen, Delphine Yung, R. Paul Guillerman, Sara O. Vargas, Catherine M. Avitabile, Corey A. Chartan, Nahir Cortes-Santiago, Michaela Ibach, Emma O. Jackson, Jill Ann Jarrell, Roberta L. Keller, Usha S. Krishnan, Kalyani R. Patel, Jennifer Pogoriler, Elise C. Whalen, Kathryn Wikenheiser-Brokamp, Natalie M. Villafranco, Steven […]
Andreas Glenthøj, Rachael F. Grace, Carl Lander, Eduard J. van Beers, Bertil Glader, Kevin H. M. Kuo, Yan Yan, Bryan McGee, Audra N. Boscoe, Junlong Li, Paola BianchiCopenhagen University Hospital – Rigshospitalet. Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and Harvard Medical School. Thrive with PK Deficiency. University Medical Center Utrecht and Utrecht University. Stanford
Naoki Tsuboya, Yoshihide Mitani, Hiroyuki Ohashi, Hirofumi Sawada, Masahiro HirayamaMie University Graduate School of Medicine.Japan European Heart Journal Case ReportsEur Heart J Case Rep 2024; DOI: 10.1093/ehjcr/ytae354 AbstractBackground: In cases of atrial septal defect with pulmonary arterial hypertension (PAH), a treat-and-repair strategy that adopts pulmonary vasodilator therapy and subsequent defect closure is postulated to be effective. However,
Shunya Sugai, Kazufumi Haino, Masako Hayashi, Jun Nirei, Kosuke Yoshihara, Koji NishijimaNiigata University Medical and Dental Hospital.Japan CureusCureus 2024; DOI: 10.7759/cureus.62552 AbstractThis report aims to investigate the association between 47,XXX and fetal hydrops by examining a clinical case and performing a comprehensive review of the relevant literature. A 34-year-old Japanese woman, gravida 2, para 1, was
Fetal Hydrops Associated With 47,XXX: A Case Report and Literature Review Read More »
Eloisa Sassá Carvalho, JulianoGomes Penha, NairYukie Maeda, Kelly Cristina O. Abud, Maria Francilene S. Souza, Claudia R. P. Castro, Johnny X. dos Santos, Juliana Pereira, Antonio Augusto LopesUniversity of São Paulo School of Medicine. Brazil Scientific ReportsSci Rep 2024; 14: DOI: 10.1038/s41598-024-67097-4 AbstractAlthough Down syndrome (DS) is considered a risk factor for hemodynamic instabilities (mainly pulmonary
Taizo A. Nakano, Alexander W. Rankin, Aparna Annam, Ann M. Kulungowski, Leslie M. McCallen, Lauren R. Hill, Kathryn C. ChatfieldUniversity of Colorado Anschutz Medical Campus and Children’s Hospital Colorado. United States Journal of PediatricsJ Pediatr 2022; 248: 81-88DOI: 10.1016/j.jpeds.2022.05.030 AbstractObjective: To evaluate the effect of the RAS-MAPK pathway inhibitor trametinib on medically refractory chylous effusions in 3
Erika K. S. M. Leenders, Lotte E. R. Kleimeier, Lauren C. Weeke, Catelijne H. Coppens, Willemijn M. Klein, Jos M.T. DraaismaRadboud University Medical Center. Amalia Children’s Hospital.Netherlands Clinical Case ReportsClin Case Rep 2024; 12: DOI: 10.1002/ccr3.9164 AbstractWe describe a premature hydropic infant with Noonan syndrome and a therapy refractory chylothorax. This was shown to be due to a central conducting lymphatic anomaly.
Jhasaketan Nayak, Karthik Kumar, Sashi Kant Singh, Gaurav Dhingra, Uttam Kumar NathAll India Institute of Medical Sciences.India Oman Medical JournalOman Med J 2024; 39:DOI: 10.5001/omj.2024.16 AbstractMethemoglobinemia is a rare dyshemoglobin disorder which can either be congenital or acquired. Dyshemoglobin disorders can be asymptomatic or symptomatic. We narrate the case of a 12-year-old girl who presented with
A Rare Case of Familial Methemoglobinemia with Congenital Heart Disease Read More »
Alban Todesco, Julien Grynblat, Kouamé Kan Firmin Akoumia, Damien Bonnet, Pedro Mendes‐Ferreira, Stéphane Morisset, Denis Chemla, Marilyne Levy, Mathilde Méot, Sophie‐Guiti Malekzadeh‐Milani, Birger Tielemans, Benoit Decante, Carine Vastel‐Amzallag, Paul Habert, Maria‐Rosa Ghigna, Marc Humbert, David Montani, David Boulate, Frédéric PerrosNorth Hospital Aix Marseille University, Assistance Publique-Hôpitaux de Marseille. INSERM UMR_S 999 Pulmonary Hypertension: Pathophysiology and Novel Therapies Le Plessis. Hôpital Necker-Enfants malades AP-HP Université de Paris Cité. Le Kremlin-Bicêtre Université Paris-Saclay. Faculty of Medicine of
Guolun Wang, Bingqiang Wen, cMinzhe Guo, Enhong Li, Yufang Zhang, Jeffrey A. Whitsett, Vladimir V. KalinichenkoCincinnati Children’s Research Foundation and University of Cincinnati College of Medicine. University of Arizona, College of Medicine, Phoenix Children’s Research Institute and Phoenix Children’s Hospital.United States Nature CommunicationsNat Commun 2024; 15: DOI: 10.1038/s41467-024-49477-6 Abstract Mutations in the FOXF1 gene, a key
