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Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review

Nagehan Bilgeça, Mahmut Gökdemirb, Özgür Balasar, Fayize Maden Bedela, Hüseyin ÇaksenNecmettin Erbakan University. Başkent University. Konya City Hospital.Turkey Molecular SyndromologyMol Syndromol 2025; DOI: 10.1159/000545533 AbstractIntroduction: Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is an exceedingly rare multisystemic disease with X-linked dominant inheritance involving meso-ectodermal tissues. FDH is characterized by specific cutaneous lesions, ectodermal findings, craniofacial […]

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The Nutmeg Lung Pattern in a Fetus with Hypoplastic Left Heart Syndrome and Turner Syndrome

Katrin Fricke, Katarina Övermo Tydén, Gunnar Bergman, Erik HedströmSkåne University Hospital and Lund University. Karolinska University Hospital and Karolinska Institutet. Sweden Pediatric CardiologyPediatr Cardiol 2025; DOI: 10.1007/s00246-025-03873-x AbstractThe “nutmeg lung pattern” on fetal magnetic resonance imaging (MRI) indicates pulmonary lymphangiectasia. This is associated with adverse outcomes, particularly in fetuses with congenital heart defects and impaired pulmonary

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Combined extracorporeal membrane oxygenation support and patent ductus arteriosus ligation following surgical correction for congenital diaphragmatic hernia, a case report and literature review

Kun-Yao Hong, Zhi Zheng, Yi-Rong Zheng, Hong Liang, Liang Gao, Yu-Cong Lin, Jin-Xi Huang, Qiang Chen, Xin-Zhu LinWomen and Children’s Hospital, School of Medicine and Xiamen University. Fujian Children’s Hospital (Fujian Branch of Shanghai Children’s Medical Center), College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University.China Respiratory Medicine Case ReportsRespir Med

Combined extracorporeal membrane oxygenation support and patent ductus arteriosus ligation following surgical correction for congenital diaphragmatic hernia, a case report and literature review Read More »

Lethal Neonatal Pulmonary Hypertension in Trisomy 21 (T21) Likely Due to Congenital Portosystemic Shunts

Rachel Guest, Dilshad Dhaliwal, Darryl Kinnear, Debra Kearney, Nahir Cortes-Santiago, Nidhy Varghese, Kalyani R. PatelBaylor College of Medicine and Texas Children’s Hospital.United States Pediatric and Developmental PathologyPediatr Devel Pathol 2025; DOI: 10.1177/10935266251343287 AbstractChildren with Trisomy 21 (T21) have an increased incidence of pulmonary hypertension (PHTN); most commonly due to congenital heart/lung diseases but also in conjunction

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Protective Effects of Bronchopulmonary Sequestration (BPS) on the Prognosis of Neonates with Congenital Diaphragmatic Hernia (CDH)

Sujin Gang, Yong Jae Kwon, Hyunhee Kwon, Suhyun Ha, Jueun Park, Byong Sop Lee, Euiseok Jung, Jiyoon Jeong, Soo Hyun Kim, Jung-Man NamgoongAsan Medical Center Children’s Hospital, Asan Medical Center and Jeonbuk National University Hospital. University of Ulsan College of Medicine. Gangneung Asan Hospital.Republic of Korea BioMedical Central PediatricsBMC Prediatr 2025; 25: DOI: 10.1186/s12887-025-05755-w AbstractBackground: Congenital diaphragmatic

Protective Effects of Bronchopulmonary Sequestration (BPS) on the Prognosis of Neonates with Congenital Diaphragmatic Hernia (CDH) Read More »

Analysis of Late Complications Associated With Hematopoietic Stem Cell Transplantation in Patients With Dyskeratosis Congenita

Takashi Koike, Shohei Yamamoto, Mayuko Shibata, Kohei Otsuka, Yumiko Sugishita, Ryota Kaneko, Naoko Kawabata, Sachio Fujita, Kosuke Akiyama, Daisuke Toyama, Miharu Yabe, Atsushi Uchiyama, Hiromasa YabeTokai University School of MedicineJapan Pediatric Blood and CancerPediatr Blood Canc 2025; DOI: 10.1002/pbc.31757 AbstractBackground: Dyskeratosis congenita (DKC) is a genetic disorder frequently complicated by bone marrow failure (BMF). Hematopoietic stem cell

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Dysregulated Tricarboxylic Acid Cycle Metabolism Is Associated With Right Ventricular Maladaptation in Pulmonary Vascular Disease

Darin T. Rosen, Todd M. Kolb, Stephen C. Mathai, Karthik Suresh, Rachel Damico, Steven Hsu, Ryan J. Tedford, Anna R. Hemnes, Jane A. Leopold, Evelyn M. Horn, Erika S. Berman‐Rosenzweig, Franz Rischard, Robert P. Frantz, Serpil C. Erzurum, Gerald J. Beck, Nicholas S. Hill, John Barnard, Samar Farha, Gabriele Grunig, Christine Jellis, Deborah H. Kwon, Reena Mehra, Margaret M. Park, W. H. Wilson Tang, Paul M. Hassoun, Catherine E. Simpson, the PVDOMICS Study GroupJohns Hopkins University. University of Miami, Medical University of South Carolina. Vanderbilt University. Brigham and Women’s Hospital. Cornell University Medical Center. Westchester Medical Center and New

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Pulmonary hypertension in 2025: next steps?

Kinjal ParikhINOVA Children’s Hospital.United States Current Opinion in CardiologyCurr Opin Cardiol 2025;DOI: 10.1097/HCO.0000000000001228 AbstractPurpose of review: To review recent updates in pediatric pulmonary hypertension with a special focus on recent recommendations from the World Symposium of Pulmonary Hypertension (WSPH).Recent findings: The third pediatric specific WSPH report highlights updated recommendations for pediatric pulmonary hypertension classification, risk stratification, and management

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Single-Cell and Spatial Transcriptomics Identified Fatty Acid-Binding Proteins Controlling Endothelial Glycolytic and Arterial Programming in Pulmonary Hypertension

Bin Liu, Dan Yi, Shuai Li, Karina Ramirez, Xiaomei Xia, Yanhong Cao, Hanqiu Zhao, Ankit Tripathi, Shenfeng Qiu, Mrinalini Kala, Ruslan Rafikov, Haiwei Gu, Vinicio de jesus Perez, Sarah-Eve Lemay, Christopher C. Glembotski, Kenneth S. Knox, Sebastien Bonnet, Vladimir V. Kalinichenko, You-Yang Zhao, Michael B. Fallon, Olivier Boucherat, Zhiyu DaiCollege of Medicine-Phoenix and University of Arizona. Washington University School of Medicine in St. Louis. Guangzhou Medical University. Indiana University College of Medicine. Arizona State University. Stanford University. Laval University. Phoenix Children’s Hospital. Ann & Robert H. Lurie Children’s Hospital of Chicago and Northwestern University Feinberg School of Medicine.United

Single-Cell and Spatial Transcriptomics Identified Fatty Acid-Binding Proteins Controlling Endothelial Glycolytic and Arterial Programming in Pulmonary Hypertension Read More »

Reverse Potts shunt as rescue from venoarterial extracorporeal membrane oxygenation in pulmonary veno-occlusive disease

Emily Davis, Can Yerebakan, John T. BergerUMC Children’s Hospital and University Medical Center of Southern Nevada. Nationwide Children’s Hospital. Children’s National Hospital.United States Cardiology in the YoungCardiol Young 2025; DOI: 10.1017/S1047951125001957 AbstractPulmonary veno-occlusive disease has no definitive cure apart from lung transplant. The reverse Potts shunt can be a palliative bridge to transplant. A post-arrest 14-year-old

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