Genetic Factors Associated With Pulmonary Vascular Disease

Neurological manifestations and vasculopathy in PLCG2-associated antibody deficiency and immune dysregulation (APLAID): a case series

Kosar Asna Ashari, Rebecca MacRae, David P. Hoytema van Konijnenburg, Craig D. Platt, Maryam Ashoor, Alfred P. See, Agnieszka Kielian, Amy Danehy, Riten Kumar, Elliot James, Kristin Houghton, Sheri Harder, Mark P. Gorman, Stacy A. Kahn, Ankana Daga, Sadaf H. Hussain, Alicia M. Johnston, Alicia Casey, Jodie D. Ouahed, Wai Wong, Kathy Jenkins, Susan Prockop,

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Case Report: A pediatric case of multifocal Streptococcus intermedius brain abscesses as the initial manifestation of SMAD4-associated juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome

Nala Al-Khatib, Patricia Martin, Katherine Sinchek, Colleen Buhrfiend, Lubov Romantseva, Edith Chernoff, David C. NguyenRush University Medical Center. Ann & Robert H. Lurie Children’s Hospital of Chicago. University of Chicago. United States Frontiers in PediatricsFront Pediatr 2026; 14: DOI: 10.3389/fped.2026.1866003 AbstractHereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease characterized by epistaxis, telangiectasias, and arteriovenous

Case Report: A pediatric case of multifocal Streptococcus intermedius brain abscesses as the initial manifestation of SMAD4-associated juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome Read More »

Rare Coding Variants in FOXF1 are Associated with Pulmonary Arterial Hypertension

Jose Gomez-Arroyo, Arjan C. Houweling, Alex V. Postma, Tushar Ganjawala, Dennis Dooijes, Harm Jan Bogaard, Jurjan Aman, Rob Zwart, Joseph A. Kizmiller, Gabriëla G. Edel, Aleksey Porollo, Lilian J. Meijboom, Nidhy P. Varghese, Philip Hale, Jason Hong, Na Zhu, Carrie L. Welch, Yufeng Shen, Francis X. McCormack, Micheala A. Aldred, Matthew T. Weirauch, Robbert J.

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Variant Class-Specific Phenotypes and Outcomes in Pediatric TBX4-Associated Pulmonary Hypertension

Cara Morgan, Alistair Calder, Matina Prapa, Thivya Sekar, Andrew Constantine, Tomas Woodgate, Annabelle Barnes, Eimear McGovern, Paul Aurora, Rossa Brugha, Sadia Quyam, Andrew Bush, Shahin MoledinaUK National Paediatric Pulmonary Hypertension Service. Great Ormond Street Hospital for Children. St George’s University Hospitals NHS Foundation Trust. Queen Elizabeth Hospital Birmingham and University of Birmingham. University College London.

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Severe fat embolism syndrome following minor trauma in a child with Duchenne muscular dystrophy: A case report

R. Montero-Yéboles, J. L. López-Prats, A. Barrés-Fernández, B. Guzman-Morais, L. Tarongi-Marco, P. Rosello-MilletHospital Clínico Universitario de Valencia. Universitat de València.Spain Molecular Genetics and Metabolism ReportsMol Genet Metab Rep 2026; 49:DOI: 10.1016/j.ymgmr.2026.101361 AbstractBackground Fat embolism syndrome (FES) is a rare but potentially life-threatening complication classically associated with long-bone fractures and orthopedic procedures. Patients with Duchenne muscular

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Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds

Hai-Juan Zhi, Yi Ding, Yu-Xin Deng, Ting Chen, Yue Cao, Si-Yu Chang, Xia Zhan, Feng Xu, Li-Li Hao, Li-Li Liang, Wen-Juan Qiu, Hui-Wen Zhang, Xue-Fan Gu, Lian-Shu HanXinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiaotong University School of Medicine.China American Chemical Society OmegaACS Omega 2026; 11: 56235-56250DOI: 10.1021/acsomega.6c06980 AbstractMethylmalonic acidemia (MMA) is a rare

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Non-HLA Antibody-Associated Hyperacute Allograft Rejection Following Lung Transplantation

Justyna A. Karolak, Ernestina Melicoff, Nidhy P. Varghese, Przemyslaw Szafranski, Esra Yıldız Bölükbaşı, Erin E. McHugh, Sarah Nicholas, Peter Jindra, John Hicks, Eric D. Austin, Paweł Stankiewicz, George B. MalloryPoznan University of Medical Sciences. Baylor College of Medicine and Texas Children’s Hospital. University of Minnesota. Vanderbilt University.Poland and United States Pediatric TransplantationPediatr Transplant 2026; 30:

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Beyond Heritable PAH: Pulmonary Hypertension in Genetic Syndromes

Julien Grynblat, Florence Coulet, Thomas Lacoste-Palasset, Xavier Jais, Eric Austin, Dunbar Ivy, Maria-Rosa Ghigna, Antoine Beauvais, Etienne-Marie Jutant, Athénaïs Boucly, Mathilde Meot, Sophie-Guiti Malekzadeh-Milani, Marilyn LevyUniversité Paris-Saclay and Hôpital Bicêtre. Hôpital Necker-Enfants malades and AP-HP, Université Paris Cité. Sorbonne Université, Assistance Publique-Hôpitaux de Paris and Hôpital Pitié-Salpêtrière. Vanderbilt University Medical Center and Monroe Carell Jr.

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Pulmonary Lymphangiectasis in a Case With Down Syndrome

Jun Okamura, Takeshi Sahashi, Kousei NakajimaIchinomiya Municipal Hospital.Japan Pediatrics InternationalPediatr Int 2026; 68: DOI: 10.1111/ped.70523 AbstractAbstract Not Available CategoryPrimary Pulmonary Lymphatic DiseaseGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication Article Access Free PDF File or Full Text Article Available

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The Value of Lung Biopsy in Infants up to 3 Months With Diffuse Lung Disease in a Resource-Limited Setting

Pierre Goussard, Pawel Schubert, Lizelle van Wyk, Lynn Booysen, André Gie, Michael Urban, Jacques Janson, Savvas Andronikou, Ernst EberStellenbosch University and Tygerberg Hospital. University of the Witwatersrand. Children’s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine. Medical University of GrazSouth Africa, United States and Austria Canadian Respiratory JournalCan Respir J 2026; DOI: 10.1155/carj/1509295

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