Genetic Factors Associated With Pulmonary Vascular Disease Archives - Page 20 of 24

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 […]

Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L Read More »

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),

Congenital lung malformations: Dysregulated lung developmental processes and altered signaling pathways Read More »

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 »

Relationship between impaired BMP signalling and clinical risk factors at early-stage vascular injury in the preterm infant

Motaharehsadat Heydarian, Prajakta Oak, Xin Zhang, Nona Kamgari, Alida Kindt, Markus Koschlig, Tina Pritzke, Erika Gonzalez- Rodriguez, Kai Förster, Rory E Morty, Friederike Häfner, Christoph Hübener, Andreas W Flemmer, Ali Oender Yildirim, Deepti Sudheendra, Xuefei Tian, Agnese Petrera, Holger Kirsten, Peter Ahnert, Nick Morrell, Tushar J Desai, Jennifer Sucre, Edda Spiekerkoetter, Anne HilgendorffHelmholtz Zentrum München.

Relationship between impaired BMP signalling and clinical risk factors at early-stage vascular injury in the preterm infant Read More »

Vascular Reactions of the Diving Reflex in Men and Women Carrying Different ADRA1A Genotypes

Tatyana Baranova, Ekaterina Podyacheva, Tatyana Zemlyanukhina, Dmitrii Berlov, Maria Danilova, Oleg Glotov, Andrey GlotovSaint Petersburg State University. D.O. Ott’s Institute of Obstetrics. Pediatric Research and Clinical Center for Infectious Diseases.Russia International Journal of Molecular SciencesInt J Mol Sci 2022; 23: DOI: 10.3390/ijms23169433 AbstractThe diving reflex is an oxygen-saving mechanism which is accompanied by apnea, reflex bradycardia

Vascular Reactions of the Diving Reflex in Men and Women Carrying Different ADRA1A Genotypes Read More »

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li, Yao Zhang, Yanling YangPeking University First Hospital. Peking University People’s Hospital. Beijing Children’s Hospital Affiliated to Capital Medical University. China-Japan Friendship Hospital. First

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment Read More »