Genetic Factors Associated With Pulmonary Vascular Disease Archives - Page 33 of 38

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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Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L

S.E. Mitchell, R. P. Martin, P. Terry, S. E. Drant, D. Valle, H. Dietz, N. SobreiraJohns Hopkins University School of Medicine. Children’s Hospital of Philadelphia. United States American Journal of Medical GeneticsAm J Med Genet 2023; 191: 1250-1260DOI: 10.1002/ajmg.a.63141 AbstractArteriovenous malformations (AVM) are characterized by abnormal vessels connecting arteries and veins resulting in a disruption of

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Congenital lung malformations: Dysregulated lung developmental processes and altered signaling pathways

Fabian Doktor, Lina Antounians, Martin Lacher, Augusto ZaniThe Hospital for Sick Children and University of Toronto. University of Leipzig. Canada and Germany Seminars in Pediatric SurgerySemin Pediatr Surg 2022; 31: DOI: 10.1016/j.sempedsurg.2022.151228 AbstractCongenital lung malformations comprise a diverse group of anomalies including congenital pulmonary airway malformation (CPAM, previously known as congenital cystic adenomatoid malformation or CCAM),

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Morphologic Features in Congenital Pulmonary Airway Malformations and Pulmonary Sequestrations Correlate With Mutation Status: A Mechanistic Approach to Classification

Nya D. Nelson, Feng Xu, William H. Peranteau, Marilyn Li, Jennifer PogorilerHospital of the University of Pennsylvania. The Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania.United States American Journal of Surgical PathologyAm J Surg Pathol 2023; 47: 568-579DOI: 10.1097/PAS.0000000000002025 AbstractCongenital pulmonary airway malformations (CPAMs) have a range of morphologies with

Morphologic Features in Congenital Pulmonary Airway Malformations and Pulmonary Sequestrations Correlate With Mutation Status: A Mechanistic Approach to Classification Read More »

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

Matina Prapa, Mauro Lago-Docampo, Emilia M. Swietlik, David Montani, Melanie Eyries, Marc Humbert, Carrie L. Welch, Wendy K. Chung, Rolf M. F. Berger, Harm Jan Bogaard, Olivier Danhaive, Pilar Escribano-Subıas, Henning Gall, Barbara Girerd, Ignacio Hernandez-Gonzalez, Simon Holden, David Hunt, Samara M. A. Jansen, Wilhelmina Kerstjens-Frederikse, David G. Kiely, Pablo Lapunzina, John McDermott, Shahin Moledina,

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease Read More »

Hospital outcomes in pediatric patients with Prader-Willi syndrome (PWS) undergoing orthopedic surgery: A 12-year analysis of national trends in surgical management and inpatient hospital outcomes

Kade S. McQuivey, Andrew S. Chung, Michael R. Jones, Justin L. Makovicka, Zachary K. Christopher, Joseph C. Brinkman, Mohan BelthurMayo Clinic Arizona. Midwestern University College of Osteopathic Medicine. Phoenix Children Hospital.United States Journal of Orthopaedic ScienceJ Orthop Sci 2022; 27: 1304-1308DOI: 10.1016/j.jos.2021.08.005 AbstractBackground: The incidence of orthopedic disorders amongst patients with Prader-Willi Syndrome (PWS) is high when

Hospital outcomes in pediatric patients with Prader-Willi syndrome (PWS) undergoing orthopedic surgery: A 12-year analysis of national trends in surgical management and inpatient hospital outcomes Read More »