Genetic Factors Associated With Pulmonary Vascular Disease Archives - Page 6 of 39

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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Adrenomedullin Overexpression Protects Mice from Experimental Bronchopulmonary Dysplasia and Associated Pulmonary Hypertension

Shyam Thapa, Poonam Sarkar, M. Waleed Gaber, Roberto Barrios, Madhulata Chauhan, Chandrasekhar Yallampalli, Binoy ShivannaTexas Children’s Hospital and Baylor College of Medicine. Houston Methodist HospitalUnited States American Journal of Physiology Lung Cellular and Molecular PhysiologyAm J Physiol Lung Cell Mol Physiol 2025; DOI: 10.1152/ajplung.00234.2025 AbstractBronchopulmonary dysplasia (BPD) associated pulmonary hypertension (PH) or BPD-PH is a lung

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Molecular targeted treatment in infants with central conducting lymphatic anomalies

Vera C. van den Brink, Lotte E. R. Kleimeier, Erika K. S. M. Leenders, Willemijn M. Klein, Willem P. de Boode, Joris Fuijkschot, Sabine L. A. G. VranckenAmalia Children’s Hospital, Radboud University Medical Center. Netherlands European Journal of PediatricsEur J Pediatr 2025; 184: DOI: 10.1007/s00431-025-06376-2 AbstractCentral conducting lymphatic anomaly (CCLA) is a rare and potentially life-threatening

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Clinico-epidemiological Characteristics of Children with Cystic Fibrosis: a Tertiary Care Experience

Probir K. Sarker, N. Akand, S. Tahura. M. Kamruzzaman, J. Akter, K. A. Zaman, T. Farhana, M. M. Hossain, M. J. Alam, M. A. S. Khan, M. J. HasanBangladesh Shishu Hospital & Institute. Bangladesh Mymensingh Medical Journal Mymensingh Med J 2025; 34: 1070-1080DOI Not Available AbstractTo describe the clinico-epidemiological characteristics of pediatric cystic fibrosis (CF)

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