Genetic Factors Associated With Pulmonary Vascular Disease

Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib

Yu Xia, Yu Sun, Taozi Du, Chengkai Sun, Ying Xu, Wensong Ge, Lili Liang, Ruifang Wang, Manqing Sun, Bing Xiao, Wenjuan QiuXinhua Hospital, Ruijin Hospital and Shanghai Jiao Tong University. China Journal of the American Medical Association Network OpenJAMA Netw Open 2025; 8: DOI: 10.1001/jamanetworkopen.2024.61888 AbstractImportance: Glycogen storage disease type Ib (GSDIb) is a rare metabolic disorder […]

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Extremely rare association: Desbuquois dysplasia type 1 with coronary-cameral fistula

Musa Öztürk, Hayrettin Hakan Aykan, Pelin Özlem Şimşek KiperHacettepe University Hospital.Turkey Cardiology in the YoungCardiol Young 2025; DOI: 10.1017/S1047951125000551 AbstractPurpose: Desbuquois dysplasia type 1 is a rare autosomal recessive chondrodysplasia characterised by distinct skeletal abnormalities and multisystem involvement, including pulmonary, renal, and ocular abnormalities, has also been reported. Cardiac complications, although infrequently discussed in the literature, include

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Growing Up with Developmental Lung Diseases: A Review for the Adult Pulmonologist

Yadira Rivera-Sanchez, Zachary W. Blair, Tyler J. Wall, Kara N. GossUniversity of Texas Southwestern Medical Center.United States ChestChest 2025; DOI: 10.1016/j.chest.2025.02.014 AbstractTopic importance: Improved childhood management strategies have decreased the early life morbidity and mortality of severe developmental lung disorders, such that an increasing number of individuals ultimately transition care to adult pulmonologists for management. Alternatively, individuals

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RNA-Seq and ChIP-Seq Identification of Unique and Overlapping Target Genes and Pathways Regulated by TBX4 in Human Pulmonary Fibroblasts and Pericytes

Ying Cai, Ling Yan, James West, Joy D. Cogan, Lora K. Hedges, Bethany Nunley, Nick Negretti, Jennifer M. S. Sucre, Eric D. Austin, Rizwan HamidVanderbilt University Medical Center Nashville. Biodevelopment Origins of Lung Disease (BOLD) Center. United States Pulmonary CirculationPulm Circ 2025; 15: DOI: 10.1002/pul2.70058 AbstractTranscription factor TBX4 rare variants associate with pulmonary arterial hypertension (PAH), particularly in

RNA-Seq and ChIP-Seq Identification of Unique and Overlapping Target Genes and Pathways Regulated by TBX4 in Human Pulmonary Fibroblasts and Pericytes Read More »

Estrogen and Cyp1b1 Regulate Pparγ in Pulmonary Hypertension Through a Ubiquitin-Dependent Mechanism

Jingyuan Chen, Xinping Chen, Vineet Agrawal, Christy S. Moore, Tom Blackwell, Nivedita Rathaur, Santhi Gladson, Anandharajan Rathinasabapathy, Anna Hemnes, Eric Austin, James WestVanderbilt University Medical Center. Second Xiangya Hospital of Central South University. Wistar Institute.United States and China Pulmonary CirculationPulm Circ 2025; 15: DOI: 10.1002/pul2.70054 AbstractFemale sex increases risk of Group I pulmonary arterial hypertension by

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Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up

Antonia Pascarella, Giuseppe Limongelli, Alessandro De Falco, Elia Marco Paolo Minale, Giangiacomo Di Nardo, Giovanni Maria Di Marco, Geremia Zito Marinosci, Giorgia Olimpico, Paolo Siani, Daniele De BrasiSantobono-Pausilipon Children’s Hospital. University of Campania “Luigi Vanvitelli” and Monaldi Hospital. University “Federico II”. Italy ChildrenChildren 2024; 11: DOI: 10.3390/children11111342 AbstractRASopathies are a group of genetic syndromes caused by

Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up Read More »

Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease

Qianying Li, Lidan Cui, Jun Su, Yuelin ShenChildren’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital and Zhengzhou Children’s Hospital. Beijing Children’s Hospital and Capital Medical University. China Frontiers in PharmacologyFront Pharmacol 2025; DOI: 10.3389/fphar.2024.1510969 AbstractMultisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the ACTA2 gene, resulting in variable clinical manifestation

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Conservative Pulmonary Arteriovenous Malformation Screening in Children: Re-Evaluation of Safety

Fleur ten Berg, Josefien Hessels, Anna Hosman, Sanne Boerman, Marco C. Post, Walter A. F. Balemans, Hans-Jurgen MagerSt. Antonius Hospital. University Medical Centre Utrecht. Netherlands Pediatric PulmonologyPediatr Pulmonol 2025; 60: DOI: 10.1002/ppul.27476 AbstractIntroduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease and screening to detect pulmonary arteriovenous malformations (PAVMs) is important to prevent complications. In

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Siblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges

Sri Meghana Kankipati, Surbhi Dumra, Swati Thareja, Lyluma Ishfaq, Mah N. Zargar, Arghadip Das, Sreya Kongala, Salma YounasAndhra Medical College. Employees’ State Insurance Corporation (ESIC) Medical College and Hospital. The Hans Foundation. Central Michigan University College of Medicine. Fatima Jinnah Medical University. Nilratan Sircar Medical College and Hospital. Osmania Medical College. Punjab University College of

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Survival and Risk Factor for Mortality of Infants with Trisomy-21 and Pulmonary Hypertension: A Population-Based Study from a Middle-Income Country

Mohd Nizam Mat Bah, Norazah Zahari, Noor Adibah Abdullah, Mohd Hanafi Sapian, EmieliyuzaYusnita AliasMinistry of Health Malaysia and Hospital Sultanah Aminah.  University of Malaya.Malaysia Pediatric CardiologyPediatr Cardiol 2024; DOI: 10.1007/s00246-024-03732-1 AbstractLimited studies are available on the outcome of infants with trisomy-21 and pulmonary hypertension (PHT) in lower- and middle-income countries. This population-based cohort study aims to

Survival and Risk Factor for Mortality of Infants with Trisomy-21 and Pulmonary Hypertension: A Population-Based Study from a Middle-Income Country Read More »

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