Genetic Factors Associated With Pulmonary Vascular Disease

Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings

Gioia Mastromoro, Daniele Guadagnolo, Antonella Giancotti, Maria Grazia Di Gregorio, Enrica Marchionni, Flaminia Vena, Francesca Romana Lepri, Lavinia Bargiacchi, Flavia Ventriglia, Cira Di Gioia, Antonio Novelli, Antonio PizzutiSapienza University of Rome. Ospedale San Pietro Fatebenefratelli. Bambino Gesù Children’s Hospital. University of Rome.Italy European Journal of Medical Genetics Eur J Med Genet 2021; 64: DOI: 10.1016/j.ejmg.2020.104106 AbstractGeneralized […]

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A case of refractory chylothorax treated with Eppikajutsuto

Juma Obayashi, Shigeyuki Furuta, Yukitsugu Nakamura, Kunihide Tanaka, Hiroaki KitagawaSt. Marianna University School of Medicine. Japan Pediatrics InternationalPediatr Int 2022; 64: DOI: 10.1111/ped.14707 AbstractNo Abstract Available CategoryPrimary Pulmonary Lymphatic DiseaseGenetic Factors Associated with Pulmonary Vascular DiseaseMedical Therapy. Efficacy or Lack of Efficacy Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication: Filed (PHiled). Greater than

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Congenital Chylothorax and Hydrops Fetalis: A Novel Neonatal Presentation of RASA1 Mutation

Alessia Gallipoli, Gillian MacLean, Jagdeep S. Walia, Anupam SehgalQueen’s University.Canada PediatricsPediatrics 2021; 147: DOI: 10.1542/peds.2020-011601 AbstractMutations in the RASA1 gene are known to cause arteriovenous malformations (AVMs), with evidence of associated lymphatic malformations. We report for the first time, to the best of our knowledge, an infant with RASA1 mutation presenting with hydrops fetalis and chylothorax, but without an associated

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Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4

Ignacio Hernandez-Gonzalez, Jair Tenorio, Julian Palomino-Doza, Amaya Martinez Meñaca, Rafael Morales Ruiz, Mauro Lago-Docampo, Marı´a Valverde Gomez, Javier Gomez Roman, Ana Bele´n Enguita Valls, Carmen Perez-Olivares, Diana Valverde, Joan Gil Carbonell, Elvira Garrido-Lestache Rodrı´guez-Monte, Maria Jesus del Cerro, Pablo Lapunzina, Pilar Escribano-SubiasHospital Universitario Río Hortega. Hospital Universitario La Paz. Centro de Investigación Biomédica en Red

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Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension

Jair Antonio Tenorio Castaño, Ignacio Hernández-Gonzalez, Natalia Gallego, Carmen Pérez-Olivares, Nuria Ochoa Parra, Pedro Arias, Elena Granda, Gonzalo Gómez Acebo, Mauro Lago-Docampo, Julian Palomino-Doza, Manuel López Meseguer, María Jesús del Cerro, Spanish PAH Consortium, Diana Valverde, Pablo Lapunzina, Pilar Escribano-SubíasHospital Universitario La Paz-UAM Paseo de La Castellana. Centro de Investigación Biomédica en Red de Enfermedades

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Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

Alejandro Cruz-Utrilla1, Natalia Gallego-Zazo, Jair Antonio Tenorio-Castaño, Inmaculada Guillén, Alba Torrent-Vernetta, Amparo Moya-Bonora, Carlos Labrandero, María Elvira Garrido-Lestache Rodríguez-Monte, Alejandro Rodríguez-Ogando, María del Mar Rodríguez Vázquez Del Rey, Juana Espín, Beatriz Plata-Izquierdo, María Álvarez-Fuente, Antonio Moreno-Galdó, Pilar Escribano-Subias, María Jesús Del Cerro MarínHospital Universitario 12 de Octubre. Hospital Universitario La Paz. Instituto de Salud Carlos

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Genetic cause of pulmonary veno-occlusive disease

Kaustubh Mohite, Anil Kumar SapareNarayana Health City.India Lung IndiaLung India 2022; 39: 191-194DOI: 10.4103/lungindia.lungindia_252_21 AbstractPulmonary veno-occlusive disease (PVOD) is an important cause of pulmonary arterial hypertension (PAH) and is classified under idiopathic cause of PAH. Over a period of time, PVOD has been studied in detail in the western countries and various diagnostic criteria are formulated.

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Pediatric pulmonary veno-occlusive disease associated with a novel BMPR2 variant

Wataru Takemori, Kenichiro Yamamura, Yoshitaka Tomita, Naoki Egami, Hazumu Nagata, Hiromitsu Shirouzu, Yuichi Ishikawa, Daisuke Nakajima, Akihiko Yoshizawa, Hiroshi Date, Shouichi OhgaKyushu University. Fukuoka Children’s Hospital. Kyoto University Graduate School of Medicine, Kyoto and Kyoto University Hospital.Japan Pediatric PulmonologyPediatr Pulmonol 2022; 57: 1366-1369DOI: 10.1002/ppul.25877 AbstractPulmonary veno-occlusive disease (PVOD) and idiopathic/heritable pulmonary arterial hypertension (I/HPAH) cause progressive

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Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene

Ben Kang, Su-Kyeong Hwang, Sujin Choi, Eun Soo Kim, Sang Yub Lee, Chang-Seok Ki, Eun-Hae Cho, Ji-Hyuk Lee, Byung-Ho ChoeKyungpook National University. GC Genome. Chungbuk National University College of Medicine.Republic of Korea Translational PediatricsTransl Pediatr 2021; 10: 1369-1376DOI: 10.21037/tp-21-12 AbstractJuvenile polyposis/hereditary hemorrhagic telangiectasia (JPS/HHT) syndrome is a rare, autosomal dominant disorder caused by mutations in the SMAD4 gene,

Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene Read More »

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT-like” syndrome in children

Joshua Hodgson, Lidia Ruiz- Llorente, Jamie McDonald, Oliver Quarrell, Kelechi Ugonna, James Bentham, Rebecca Mason, Jennifer Martin, David Moore, Katie Bergstrom, Pinar Bayrak- Toydemir, Whitney Wooderchak-Donahue, Nicholas W. Morrell, Robin Condliffe, Carmelo Bernabeu, Paul D. UptonUniversity of Cambridge. Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras. University of Alcalá, Madrid. University of Utah. Sheffield Children’s Hospital. Leeds

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT-like” syndrome in children Read More »

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