Genetic Factors Associated With Pulmonary Vascular Disease

Multiomics endotyping of preterm infants with bronchopulmonary dysplasia and pulmonary hypertension-A pilot study

Roopa Siddaiah, Christiana Oji‐Mmuo, Vincent P. R. Aluquin, Yuka Imamura Kawasawa, Ann Donnelly, Dustin Rousselle, Nathalie Fuentes, Eric D. Austin, Patricia SilveyraPenn State Health and Children’s Hospital. Indiana University School of Public Health. Vanderbilt University.United States Pulmonary CirculationPulm Circ 2023; 13: DOI: 10.1002/pul2.12232 Abstract Pulmonary hypertension associated with bronchopulmonary dysplasia is a severe complication of preterm […]

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RASA3 is a candidate gene in sickle cell disease-associated pulmonary hypertension and pulmonary arterial hypertension

Clare C. Prohaska, Xu Zhang, Tae‐Hwi L. Schwantes‐An, Robert S. Stearman, Stanley Hooker, Rick A. Kittles, Micheala A. Aldred, Katie A. Lutz, Michael W. Pauciulo, William C. Nichols, Ankit A. Desai, Victor R. Gordeuk, Roberto F. MachadoIndiana University. University of Illinois at Chicago. City of Hope. Morehouse School of Medicine. Cincinnati Children’s Hospital Medical Center

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Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study

Jessie W. Swarts, Lotte E. R. Kleimeier, Erika K. S. M. Leenders, Tuula Rinne, Willemijn M. Klein, Jos M. T. DraaismaAmalia Children’s Hospital, Radboud Institute for Health Sciences and Radboud University Medical CenterNetherlands American Journal of Medical Genetics AAm J Med Genet A 2022; 188: 3242-3261DOI: 10.1002/ajmg.a.62955 AbstractNoonan syndrome (NS) has been associated with an increased

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Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

Alicia B. Byrne, Pascal Brouillard, Drew L. Sutton, Jan Kazenwadel, Saba Montazaribarforoushi, Genevieve A. Secker, Anna Oszmiana, Milena Babic, Kelly L. Betterman, Peter J. Brautigan, Melissa White, Sandra G. Piltz, Paul Q. Thomas, Christopher N. Hahn, Matthias Rath, Ute Felbor, G. Christoph Korenke, Christopher L. Smith, Kathleen H. Wood, Sarah E. Sheppard, Denise M. Adams,

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema Read More »

MR lymphangiography of lymphatic abnormalities in children and adults with Noonan syndrome

C. C. Pieper, J. Wagenpfeil, A. Henkel, S. Geiger, T. Köster, K. Hoss, J. A. Luetkens, C. Hart, U. I. Attenberger, A. MüllerUniversity of Bonn and Children’s Hospital.Germany Scientific ReportsSci Rep 2022; 12: DOI: 10.1038/s41598-022-13806-w AbstractNoonan syndrome is associated with complex lymphatic abnormalities. We report dynamic-contrast enhanced MR lymphangiography (DCMRL) findings in children and adults with

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Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy

Lotte E. R. Kleimeier, Carolinevan Schaik, Erika Leenders, Maxim Itkin, Willemijn M. Klein, Jos M. T. DraaismaRadboudumc Amalia Children’s Hospital and Radboud University Medical Center. University of Pennsylvania.Netherlands and United States Journal of Clinical MedicineJ Clin Med 2022; 11: DOI: 10.3390/jcm11113128 AbstractDysregulation of the Ras/Mitogen-activated protein kinase (MAPK) signaling pathway is suggested to play a pivotal

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Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review

Julia Sleutjes, Lotte Kleimeier, Erika Leenders, Willemijn Klein, Jos DraaismaRadboud University Medical Center and Amalia Children’s Hospital.Netherlands Molecular SyndromologyMol Syndromol 2022; DOI: 10.1159/000517605 AbstractNoonan syndrome spectrum disorders are a group of phenotypically related conditions, resembling Noonan syndrome, caused by germline pathogenic variants in genes within the Ras/mitogen-activated protein kinase (Ras/MAPK) signalling pathway. Lymphatic dysplasia with a

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Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Viktor Lukacs, Jayanti Mathur, Rong Mao, Pinar Bayrak-Toydemir, Melinda Procter, Stuart M. Cahalan, Helen J. Kim, Michael Bandell, Nicola Longo, Ronald W. Day, David A. Stevenson, Ardem Patapoutian, Bryan L. KrockThe Scripps Research Institute. Genomics Institute of the Novartis Research Foundation. ARUP Institute for Clinical and Experimental Pathology. University of Utah. Stanford University. Children’s Hospital

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Investigation into the genetics of fetal congenital lymphatic anomalies

Daniella Rogerson, Anna Alkelai, Jessica Giordano, Madhulatha Pantrangi, Meng-Chang Hsiao, Chia-Ling Nhan-Chang, Joshua E. Motelow, Vimla Aggarwal, David Goldstein, Ron Wapner, Carrie J. ShawberColumbia University Vagelos College of Physicians and Surgeons. Columbia University Irving Medical Center.United States Prenatal DiagnosisPrenat Diagn 2023; DOI: 10.1002/pd.6345 AbstractObjective: Congenital lymphatic anomalies (LAs) arise due to defects in lymphatic development and often

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Pearls & Oy-sters: Cerebral Abscess Secondary to Pulmonary Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia

Jodie I. Roberts, Kristine Woodward, Adam Kirton, Michael J. EsserUniversity of Calgary; Alberta Children’s Hospital Research Institute.Canada NeurologyNeurology 2022; 98: 292-295DOI: 10.1212/WNL.0000000000013181 AbstractHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition that is linked to a myriad of neurologic complications arising from vascular malformations of the brain, spinal cord, and lungs. Our case describes a previously

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