Genetic Factors Associated With Pulmonary Vascular Disease Archives - Page 9 of 24

A rare presentation of childhood interstitial lung disease attributed to KDM3B gene mutation: a case report

Zaineb Benslimane, Sinan Yavuz, Nader FrancisAl Qassimi Women and Children Hospital.United Arab Emirates PanAfrican Medical JournalPan Afr Med J 2023; 46DOI: 10.11604/pamj.2023.46.84.41457 AbstractChildhood Interstitial Lung Disease (chILD) encompasses various respiratory conditions affecting children’s lung airspaces and tissues, with diverse causes. One rare cause involves structural vascular changes. We describe a case of a 10-year-old boy diagnosed […]

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Rescuing lung development through embryonic inhibition of histone acetylation

Giangela Stokes, Zhuowei Li, Nicole Talaba, William Genthe, Maria B. Brix, Betty Pham, Mark D. Weihold, Gracia Sandok, Rebecca Hernan, Julia Wynn, Haiyang Tang, Diana M. Tabima, Allison Rodgers, Timothy A. Hacker, Naomi C. Chesler, Pan Zhang, Rabi Murad, Jason X.-J. Yuan, Yufeng Shen, Wendy K. Chung, David J. McCulleyUniversity of California, San Diego. University

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Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature

Elias Edward Lahham, JuhinaJamal Hasassneh, Dua Osamah Adawi, Mohamad Khaled IsmailAugusta Victoria Hospital. Beit-Jala Governmental Hospital.Palestine Oxford Medical Case ReportsOxford Med Case Rep 2023; 11: 407–409DOI: 10.1093/omcr/omad119 AbstractHyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis (HUPRA syndrome) is a rare autosomal recessive mitochondrial disease with a prevalence of <1:1 000 000, due to variations in

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Twins with alveolar capillary dysplasia with misalignment of pulmonary veins: Strategies for diagnosis and management

Sinead Brady, Usha Krishnan, Anjali Saqi, Diane VargasNew York Presbyterian-Morgan Stanley Children’s Hospital and Columbia University Irving Medical CenterUnited States Journal of Neonatal and Perinatal MedicineJ Neonatal Perinatal Med 2024;DOI: 10.3233/NPM-230085 AbstractWe present a case of dichorionic-diamniotic twin females who developed hypoxemic respiratory failure. They were ultimately diagnosed by lung biopsy with alveolar capillary dysplasia with

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Case Report: Stüve-Wiedemann syndrome-a rare cause of persistent pulmonary hypertension of the newborn

Jessica Jin, Paula Rothämel, Johanna Büchel, Birgit Kammer, Theresa Brunet, Joseph Pattathu, Andreas W. Flemmer, Claudia Nussbaum, Sebastian SchroepfDr. von Hauner Children’s Hospital, University Hospital and Ludwig-Maximilians-Universität. University Hospital and Technical University of Munich. Germany Frontiers in PediatricsFront Pediatr 2024;DOI: 10.3389/fped.2023.1329404 AbstractIntroduction: Persistent pulmonary hypertension of the newborn (PPHN) is a life-threatening condition characterized by hypoxemia due

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Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

Alex V. Postma, Christina K. Rapp, Katrin Knoflach, Alexander E. Volk, Johannes R. Lemke, Maximilian Ackermann, Nicolas Regamey, Philipp Latzin, Lucas Celant, Samara M. A. Jansen, Harm J. Bogaard, AhoI lgun, Mariëlle Alders, Karin Y. van Spendonck-Zwarts, Danny Jonigk, Christoph Klein, Stefan Gräf, Christian Kubisch, Arjan C. Houweling, Matthias GrieseAmsterdam University Medical Centre. Dr. von

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Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension

Yi- Yin Tai, Qiujun Yu, Ying Tang, Wei Sun, Neil J. Kelly, Satoshi Okawa, Jingsi Zhao, Tae- Hwi Schwantes-An, Caroline Lacoux, Stephanie Torrino, Yassmin Al Aaraj, Wadih El Khoury, Vinny Negi, Mingjun Liu, Catherine G. Corey, Frances Belmonte, Sara O. Vargas, Brian Schwartz, Bal Bhat, B. Nelson Chau, Jason H. Karnes, Taijyu Satoh, Robert J.

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Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children

Helio V. Neves da Silva, Jason P. Weinman, Erin K. Englund, Robin R. Deterding, D. Dunbar Ivy, Lorna P. BrowneChildren’s Hospital Colorado and University of Colorado School of Medicine, Anschutz Medical Campus. Highland Hospital. United States Pediatric RadiologyPediatr Radiol 2024;DOI: 10.1007/s00247-023-05848-7 AbstractBackground: Mutations in the T-Box 4 (TBX4) gene are a lesser-known cause of heritable pulmonary arterial

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Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant

Beatrice Desnous, Guillaume Carles, Florence Riccardi, Nathalie Stremler, Melissa Baravalle, Fedouah El-Louali, Benoit Testud, Mathieu MilhTimone Enfant, APHM. Sainte Musse Hospital. Aix-Marseille University. France Prenatal DiagnosisPrenat Diagn 2023;DOI: 10.1002/pd.6505 AbstractBackground: Most periventricular nodular heterotopias (PNHs) are associated with a mutation in the filamin A (FLNA) gene in Xq28. This condition is associated with cardiovascular malformations, connective tissue

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