Genetic Factors Associated With Pulmonary Vascular Disease

PKD1L1 Is Involved in Congenital Chylothorax

Jonathan B. Whitchurch, Sophia Schneider, Alina C. Hilger, Ricarda Köllges, Jil D. Stegmann, Lea Waffenschmidt, Laura Dyer, Holger Thiele, Bhanupriya Dhabhai, Tikam Chand Dakal, Andreas Müller, Dominic P. Norris, Heiko M. ReutterHarwell Campus. University Hospital Bonn. University Hospital Erlangen. University of Cologne. Mohanlal Sukhadia University.United Kingdom, Germany and India CellsCells 2024; 13:DOI: 10.3390/cells13020149 AbstractBesides visceral heterotaxia, Pkd1l1 null […]

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Causal association of depression, anxiety, cognitive performance, the brain cortical structure with pulmonary arterial hypertension: A Mendelian randomization study

Zeying Zhang, Shelby Kutty, Wei Peng, Gaoming Zeng, Haiyan Luo, Zhenghui Xiao, Qiming Liu, Yunbin XiaoSecond Xiangya Hospital of Central South University. Johns Hopkins School of Medicine. Hunan Children’s Hospital. China Journal of Affective DisordersJ Affect Dis 2024;DOI: 10.1016/j.jad.2024.01.276 AbstractBackground: Patients with pulmonary arterial hypertension (PAH) often present with anxiety, depression and cognitive deterioration. Structural changes in

Causal association of depression, anxiety, cognitive performance, the brain cortical structure with pulmonary arterial hypertension: A Mendelian randomization study Read More »

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant

Kyung Hee Kim, Ji Yoon Han, Joonhong Park, Jung Sun ChoThe Catholic University of Korea. Jeonbuk National University Medical School and Hospital. Republic of Korea International Journal of Molecular SciencesInt J Mol Sci 2024; 25:DOI: 10.3390/ijms25073701 AbstractTRAF7-related disorders represent some of the rarest inherited disorders, exhibiting clinical features that overlap with cardiac, facial, and digital anomalies

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant Read More »

Viewing Pulmonary Hypertension Through a Pediatric Lens

Stuti Agarwal, Jeffrey Fineman, David N. Cornfield, Cristina M. Alvira, Roham T. Zamanian, Kara Goss, Ke Yuan, Sebastien Bonnet, Olivier Boucherat, Soni Pullamsetti, Miguel A. Alcázar, Elena Goncharova, Tatiana V. Kudryashova, Mark R. Nicolls, Vinicio de Jesús PérezStanford University. University of California, San Francisco. University of Texas Southwestern. Boston Children’s Hospital. University of Laval. Max-Planck-Institute

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Cardiac phenotypic spectrum of KCNT1 mutations

Utkarsh Kohli, Chitra Ravishankar, Douglas NordliComer Children’s Hospital and Pritzker School of Medicine of the University of Chicago. he Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania. United States Cardiology in the YoungCardiol Young 2020; 30: 1935-1939DOI: 10.1017/S1047951120002735 AbstractWe report a 10-month-old girl with KCNT1 (c1420C > T; p. Arg474Cys,

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Digital Spatial Profiling Identifies Distinct Molecular Signatures of Vascular Lesions in Pulmonary Arterial Hypertension

Rubin M. Tuder, Aneta Gandjeva, Sarah Williams, Sushil Kumar, Vitaly O. Kheyfets, Kyle Matthew Hatton-Jones, Jacqueline R. Starr, Jeong Yun, Jason Hong, Nicholas R. West, Kurt R. StenmarkUniversity of Colorado Anschutz Medical Campus School of Medicine. University of Colorado. Griffith University. Brigham and Women’s Hospital and Harvard Medical School. University of California, Los Angeles.United States

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ABCA3 mutation-induced congenital pulmonary surfactant deficiency: A case report

Chunxia Lei, Chunhui Wan, Caixia LiuWuhan Children’s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College and Huazhong University of Science and Technology. Taihe Hospital and Hubei University of Medicine.China MedicineMedicine 2024; 103: DOI: 10.1097/MD.0000000000037622 AbstractIntroduction: Congenital surfactant deficiency, often caused by mutations in genes involved in surfactant biosynthesis such as ABCA3, presents a significant challenge

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Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement

Ali Alsuheel Asseri, Ahmad A. Alzoani, Mohammed Almahdi, Hussein Almahdi, Nouf Almushayt, Noha Saad Alyazidi, Basmah Mohammed Al MufarrihKing Khalid University. Abha Maternity and Children Hospital and Ministry of Health. Saudi Arabia International Medical Case Reports JournalInt Med Case Rep J 2024; 17: 209-214DOI: 10.2147/IMCRJ.S447466 AbstractJeune syndrome, or asphyxiating thoracic dystrophy (JATD), is a rare autosomal

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement Read More »

Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure

Dana R. Tower, Ronald W. Day, Tighe Marrone, Rachel Palmquist, Lincoln D. Nadauld, Joshua L. Bonkowsky, Sabrina Malone JenkinsUniversity of Utah School of Medicine and Primary Children’s Hospital. Intermountain Precision Genomics. United States Cold Spring Harbor Molecular Case StudiesCold Spring Harb Mol Case Stud 2024; 9:DOI: 10.1101/mcs.a006292 AbstractAlveolar capillary dysplasia (ACD) is a fatal disorder that

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Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infants with unexplained severe pulmonary hypertension: The roles of clinical, pathological, and genetic testing

Tetsuo Onda, Takuma Akimoto, Itaru Hayasaka, Masahiko Ikeda, Yuta Furuse, Akiko Ando, Yuichi Nakamura, Ryota Honjo, Atsushi Manabe, Itsuko Furuta, Kazutoshi ChoHokkaido University Hospital. Japan Early Human DevelopmentEarly Hum Dev 2021; 155:DOI: 10.1016/j.earlhumdev.2021.105323 AbstractBackground: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare and fatal disorder that occurs in the developing fetal lungs; at

Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infants with unexplained severe pulmonary hypertension: The roles of clinical, pathological, and genetic testing Read More »

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