Genetic Factors Associated With Pulmonary Vascular Disease

Characterizing Periprocedural Care for Pediatric Patients With Williams Syndrome Undergoing General Anesthesia at a Tertiary Pediatric Hospital

Laura K. Andrews, Reid C. Chamberlain, Susan Silva, Remi Hueckel, Desi Newberry, Warwick Ames, Emily M. FunkUniversity of North Carolina Southeastern Hospital. Duke Children’s Hospital and Health Center and Duke University.United States American Association of Nurse Anesthesiology JournalAANA J 2025; 93: 273-282DOI: 10.70278/AANAJ/.0000001030 AbstractWilliams syndrome is a rare congenital disorder affecting connective tissue and the cardiovascular […]

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Gene and metabolite changes triggered by downregulation of JUNB and ZNF281 in idiopathic pulmonary arterial hypertension: potential mechanisms revealed by multi-omics study

Yanfang Zong, Wei Liu, Jiahe Tian, Cuilan Hou, Tingting Xiao, Sirui Song, Xunwei JiangShanghai Children’s Hospital School of Medicine and Shanghai Jiao Tong University.China Translational PediatricsTransl Pediatr 2025; 14: 2572-2585DOI: 10.21037/tp-2025-370 AbstractBackground: Pulmonary arterial hypertension (PAH) is a severe pulmonary vascular disease causing right heart failure. Idiopathic PAH (IPAH), a type of PAH with unknown causes, has

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Are NONO Variants Linked to Congenital Heart Disease? Patient Reports and Review

Peiqing He, Sini Zou, Jianxiong Chen, Meiyi Wang, Peng Lin, Jiwu Lou, Zhanying Ma, Zhen Li, Tizhen YanDongguan Maternal and Child Health Care Hospital. China European Journal of Medical GeneticsEur J Med Genet 2025; DOI: 10.1016/j.ejmg.2025.105060 AbstractPathogenic variants in the NONO gene (MIM #300084) are responsible for X-linked syndromic intellectual developmental disorder-34 (MRXS34, MIM #300967) characterized

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De novo variant in RING finger protein 213 causes systemic vasculopathy

Ayako Kashimada, Tomoko Mizuno, Eriko Tanaka, Susumu Hosokawa, Tomohiro Udagawa, Yuichi Hiraoka, Keisuke Uchida, Tomohiro Morio, Kenjiro Kosaki, Masatoshi TakagiInstitute of Science Tokyo. Kyorin University. Keio University.Japan Journal of Clinical Investigation InsightJCI Insight 2025; DOI: 10.1172/jci.insight.190094 AbstractSystemic arterial stenosis, including moyamoya disease (MMD) and middle aortic syndrome (MAS), is a rare condition of unclear etiology. MMD

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One-stage relief of bilateral outflow tract obstruction and left main coronary ostial stenosis in an infant with Williams syndrome: the technique

Ali H. Mashadi, Yasin Essa & Sameh M. SaidMaria Fareri Children’s Hospital and Westchester Medical Center.United States Multimedia Manual of Cardio-Thoracic SurgeryMultimed Man Cardiothorac Surg 2025; DOI: 10.1510/mmcts.2024.117 AbstractA 3-month-old, 5.2-kg infant with Williams syndrome presented with failure to thrive and a systolic murmur. He was taken to the cardiac catheterization laboratory for a planned pulmonary

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Kidney and vascular involvement in Alagille syndrome

Bruno Ranchin, Marie‑Noelle Meaux, Malo Freppel, Mathias Ruiz, Aurelie De MulHôpital Femme Mère Enfant, Hospices Civils de Lyon and Université de Lyon.France Pediatric NephrologyRediatr Nephrol 2025; 40: 891-899DOI: 10.1007/s00467-024-06562-8 AbstractAlagille syndrome (ALGS) is an autosomal dominant, multisystemic disease with a high interindividual variability. The two causative genes JAG1 and NOTCH2 are expressed during kidney development, can

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Congenital Diaphragmatic Hernia – Is there a sex specific severity phenotype?

Angeo Zarfati, Luca Pio, Arimatias Raitio, Ahmed Abu-Zaid, Khadidja Khadir, Alexandra Benachi, Paul D. LostyUniversité Paris-Saclay, Assistance Publique – Hôpitaux de Paris (AP-HP), Bicêtre Hospital. University of Rome Tor Vergata. Centre de Référence Maladie Rare. University of Turku and Turku University Hospital. Alfaisal University. Antoine Béclère Hospital. University of Liverpool. Ramathibodi Hospital, Mahidol, Mahidol University.France,

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Prolidase Deficiency Presenting With Pulmonary Arteriovenous Malformations and Seizures: Report of Two Cases From Iran

Ali Pajouhi, Rouhollah Rohani, Vahid Ziaee, Mohammad Shahrooei, Zeinab Paymani, Bahar Amiri, Mohammadreza ModaresiLorestan University of Medical Sciences. Children’s Medical Center and Tehran University of Medical Sciences. Pediatric Rheumatology Society of Iran. KU Leuven. Dr. Shahrooei Lab.Iran and Belgium Case Reports in PediatricsCase Rep Pediatr 2025; DOI: 10.1155/crpe/9929135 AbstractProlidase deficiency (PD) is a rare autosomal recessive

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Large Airway and Lung Findings in Symptomatic Children and Young Adults With Down Syndrome

Emily DeBoer, Kristine Wolter-Warmerdam, Francis Hickey, JAson WeinmanUniversity of Colorado School of Medicine and Children’s Hospital Colorado.United States Pediatric PulmonologyPediatr Pulmonol 2025; 60: DOI: 10.1002/ppul.71339 AbstractBackground and objectives: Epidemiology studies report pulmonary disease, lung infection, and pneumonia as the largest causes of morbidity and mortality in individuals with Down syndrome (DS), but how significant airway and lung

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Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort

Manon Fleury, Céline Delestrain, Alice Hadchouel, Julie Mazenq, Myriam Benhamida, Anne‐Sophie Bernard, Raphaël Borie, Jacques Brouard, Harriet Corvol, Pierrick Cros, Christophe Delacourt, Tifenn Desroziers, Jean‐Christophe Dubus, Carole Egron, Ralph Epaud, Michael Fayon, Aude Forgeron, Lisa Giovannini‐Chami, Christophe Marguet, Alexandra Masson‐Rouchaud, Hortense Petat, Marie‐Catherine Renoux, Léa Roditis, Caroline Thumerelle, Clémentine Vigier, Aurore Coulomb L’Herminé, Hubert Ducou

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