Genetic Factors Associated With Pulmonary Vascular Disease

Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant

Yohan Soreze, Nadia Nathan, Julien Jegard, Erik Hervieux, Pauline Clermidi, Chiara Sileo, Camille Louvrier, Marie Legendre, Aurore Coulomb L’HermineTrousseau Hospital and AP-HP – Sorbonne Université. Sorbonne Université and Armand Trousseau Hospital. Nantes University Hospital. France NeonatologyNeonatology 2023; DOI: 10.1159/000534076 AbstractAcinar dysplasia (AcDys) is one of the three main diffuse developmental disorders of the lung. The transcription […]

Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant Read More »

Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations

Elissa R. Engel, Katie Wusik, Philip Bright, Sudhakar Vadivelu, J. Michael Taylor, Adrienne HammelUniversity of Cincinnati College of Medicine and Cincinnati Children’s Hospital Medical Center. University of Kentucky College of Medicine.United States Journal of PediatricsJ Pediatr 2023; DOI: 10.1016/j.jpeds.2023.113761 AbstractObjective: To investigate the prevalence and predictors of hereditary hemorrhagic telangiectasia (HHT) and capillary-malformation arteriovenous malformation (CM-AVM) syndrome

Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations Read More »

Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia

Mordechai Pollak, Dvir Gatt, Michelle Shaw, Sheryl Hewko, Anthony Lamanna, Sara Santos, Felix RatjenHospital for Sick Children and Ruth Rappaport Children’s Hospital.Canada Journal of PediatricsJ Pediatr 2023; DOI: 10.1016/j.jpeds.2023.113665 AbstractObjective: To assess the utility of the Curaçao criteria by age over time in children with hereditary hemorrhagic telangiectasia (HHT).Study design: This was a single-center, retrospective analysis of patients

Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia Read More »

Reduced FOXF1 links unrepaired DNA damage to pulmonary arterial hypertension

Sarasa Isobe, Ramesh V. Nair, Helen Y. Kang, Lingli Wang, Jan-Renier Moonen, Tsutomu Shinohara, Aiqin Cao1, Shalina Taylor, Shoichiro Otsuki, David P. Marciano, Rebecca L. Harper, Mir S. Adil, Chongyang Zhang, Mauro Lago-Docampo, Jakob Körbelin, Jesse M. Engreitz, Michael P. Snyder, Marlene RabinovitchLucile Packard Children’s Hospital and Stanford University School of Medicine. University Medical Center

Reduced FOXF1 links unrepaired DNA damage to pulmonary arterial hypertension Read More »

Causes of death in individuals with trisomy 18 after the first year of life

Justin M. Mehl, Jonathan Gelfond, John C. Carey, Jannine D. CodyUniversity of Texas Health Science Center, San Antonio. University of Utah. The Chromosome 18 Registry and Research Society.United States American Journal of Medical Genetics Part AAm J Med Genet A 2023; DOI: 10.1002/ajmg.a.63436 AbstractMortality in individuals with trisomy 18 has significantly decreased over the past 20

Causes of death in individuals with trisomy 18 after the first year of life Read More »

A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia

Katarzyna Bzdega, Mateusz Biela, Gail H. Deutsch, Joseph A. Kitzmiller, Malgorzata Rydzanicz, Rafal Ploski, Jeffrey A. Whistsett, Robert Smigiel, Justyna A. KarolakPoznan University of Medical Sciences. Wroclaw Medical University. University of Washington School of Medicine. Cincinnati Childrens Hospital Medical Center. Medical University of Warsaw. Poland and United States Clinical GeneticsClin Genet 2023; DOI: 10.1111/cge.14428 AbstractCongenital alveolar

A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia Read More »

BMPR2 variant may be related to pulmonary hypertension after lung irradiation

Masako Harada, Ai Yamada, Shun Nagasawa, Naoto Yamashita, Mariko Kinoshita, Koh-Ichiro Yoshiura, Hiroshi MoritakeUniversity of Miyazaki. Nagasaki University. Japan Pediatrics InternationalPediatr Int 2023; 65DOI: 10.1111/ped.15652 AbstractNo Abstract Available CategoryGenetic Factors Associated with Pulmonary Vascular DiseaseEnvironmental Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease Fresh or Filed Publication:

BMPR2 variant may be related to pulmonary hypertension after lung irradiation Read More »

Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype

Elizabeth S. Doughty, Christian Norvik, Alice Levin, Jenna Bodmer, Karin Tran-Lundmark, Steven H. Abman, Csaba GalambosThe University of Colorado and Children’s Hospital Colorado. Lund University and Wallenberg Center for Molecular Medicine.United States and Sweden Pediatric and Developmental PathologyPediatr and Dev Pathol 2023; DOI: 10.1177/10935266231199933 AbstractTbx4 protein, expressed in mesenchyme of the developing lung, contributes to airway

Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype Read More »

Isogenic pairs of induced-pluripotent stem-derived endothelial cells identify DYRK1A/PPARG/EGR1 pathway is responsible for Down syndrome-associated pulmonary hypertension

Hidehiro Suginobe, Hidekazu Ishida, Yoichiro Ishii, Kazutoshi Ueda, Chika 5 Yoshihara, Atsuko Ueyama, Renjie Wang, Hirofumi Tsuru, Kazuhisa Hashimoto, Masaki Hirose, Ryo Ishii, Jun Narita, Yasuji Kitabatake, Keiichi OzonoOsaka University Graduate School of Medicine. Osaka Children’s and Women’s Hospital. Niigata University School of Medicine.Japan Human Molecular GeneticsHum Mol Genet 2023; DOI: 10.1093/hmg/ddad162 AbstractDown syndrome (DS) is

Isogenic pairs of induced-pluripotent stem-derived endothelial cells identify DYRK1A/PPARG/EGR1 pathway is responsible for Down syndrome-associated pulmonary hypertension Read More »

Factors influencing pulmonary arterial pressure in three related patients with Cantú syndrome: glyburide may provide precision care

Ronald W. Day, Benjamin F. CallUniversity of Utah and Primary Children’s Hospital. Portneuf Cardiology.United States Rare Disease and Orphan Drugs JournalRare Dis Orphan Drugs J 2023; DOI: 10.20517/rdodj.2023.12 AbstractA range of pulmonary arterial pressures was observed in three related patients with Cantú syndrome. The incident patient developed a moderately high pulmonary vascular resistance. Several factors

Factors influencing pulmonary arterial pressure in three related patients with Cantú syndrome: glyburide may provide precision care Read More »

Scroll to Top