Genetic Factors Associated With Pulmonary Vascular Disease

Longer Exposure to Left-to-Right Shunts Is a Risk Factor for Pulmonary Vein Stenosis in Patients with Trisomy 21

Connie Choi, Kimberlee Gauvreau, Philip Levy, Ryan Callahan, Kathy J. Jenkins, Minghui ChenHarvard Medical School and Boston Children’s Hospital.United States ChildrenChildren 2021; 8: DOI: 10.3390/children8010019 AbstractWe conducted a study to determine whether patients born with Trisomy 21 and left-to-right shunts who develop pulmonary vein stenosis (PVS) have a longer exposure to shunt physiology compared to those […]

Longer Exposure to Left-to-Right Shunts Is a Risk Factor for Pulmonary Vein Stenosis in Patients with Trisomy 21 Read More »

Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis

Abbas H. Zaidi, Jessica M. Yamada, David T. Miller, Kerry McEnaney, Christina Ireland, Amy E. Roberts, Kimberlee Gauvreau, Kathy J. Jenkins, Ming Hui ChenBoston Children’s Hospital and Harvard Medical School.United States ChildrenChildren 2021; 8: DOI: 10.3390/children8020128 AbstractPulmonary vein stenosis (PVS) is a rare, frequently lethal disease with heterogeneous phenotypes and an unclear etiology. Limited studies have

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Characterizing the Spatiotemporal Transcriptomic Response of the Right Ventricle to Acute Pressure Overload

Vitaly O. Kheyfets, Sushil Kumar, Paul M. Heerdt, Kenzo Ichimura, R. Dale Brown, Melissa Lucero, Ilham Essafri, Sarah Williams, Kurt R. Stenmark, Edda SpiekerkoetterUniversity of Colorado. Yale School of Medicine. Stanford University. he University of Queensland.United States and Australia International Journal of Molecular SciencesInt J Mol Sci 2023; 24: DOI: 10.3390/ijms24119746 AbstractThis study analyzed microarray data

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Unusual presentation of alveolar capillary dysplasia with misalignment of the pulmonary veins in a child with respiratory syncytial virus pneumonia: A case report

Kantisa Sirianansopa, Pharsai Prasertsan, Kanokpan Ruangnapa, Kantara Saelim, Phawin Kor-anantakulFaculty of Medicine Prince of Songkla University. Thailand Respirology Case ReportsRespirol Case Rep 2023; 11: DOI: 10.1002/rcr2.1089 AbstractAlveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare congenital diffuse lung disorder, with a fatal course during the neonatal period. We describe an 18-month-old boy

Unusual presentation of alveolar capillary dysplasia with misalignment of the pulmonary veins in a child with respiratory syncytial virus pneumonia: A case report Read More »

Endothelin-1 gene polymorphism (G8002A) and endothelial monocyte-activating polypeptide II: Role in vascular dysfunction in pediatric patients with β-thalassemia major

Azza Abdel Gawad Tantawy, Mourad Alfy Ramzy Tadros, Amira Abdel Moneam Adly, Eman Abdel Rahman Ismail, Fatma A. Ibrahim, Nanis Mohammed Salah Eldin, Mahitab Morsy Hussein, Mervat Abdalhameed Alfeky, Sarah Mohammed Ibrahim, Marwa Adel Hashem, Fatma Soliman, Elsayed EbeidAin Shams University. Military Medical Services and Military Medical Academy. National Research Center. Egypt CytokineCytokine 2023; DOI: 10.1016/j.cyto.2022.156048

Endothelin-1 gene polymorphism (G8002A) and endothelial monocyte-activating polypeptide II: Role in vascular dysfunction in pediatric patients with β-thalassemia major Read More »

Demonstration of Safety in Wild Type Mice of npFOXF1, a Novel Nanoparticle-Based Gene Therapy for Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins

Fatemeh Kohram, Zicheng Deng, Yufang Zhang, Abid Al Reza, Enhong Li, Olena A Kolesnichenko, Samriddhi Shukla, Vladimir Ustiyan, Jose Gomez-Arroyo, Anusha Acharya, Donglu Shi, Vladimir V. Kalinichenko, Alan P. KennyUniversity of Cincinnati and Cincinnati Children’s Hospital Medical Center and University of Cincinnati.United States BiologicsBiologics 2023; 17: 43-55DOI: 10.2147/BTT.S400006 AbstractIntroduction: Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins (ACDMPV)

Demonstration of Safety in Wild Type Mice of npFOXF1, a Novel Nanoparticle-Based Gene Therapy for Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Read More »

Pearls & Oy-sters: Late-Onset Cobalamin C Deficiency Presenting With Subacute Combined Degeneration

Christopher Goyne, Leena KansalUniversity of California San Diego.United States NeurologyNeurology 2023; 100: 486-489DOI: 10.1212/WNL.0000000000201695 AbstractCobalamin C (CblC) deficiency is a rare inborn error in cobalamin (vitamin B12) metabolism which results in impaired intracellular processing of dietary vitamin B12. This leads to a wide range of clinical manifestations including cognitive impairment, psychiatric symptoms, myelopathy, thrombotic events, glomerulonephritis,

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Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome

Irina N. Artamonova, Anna M. Zlotina, Olga R. Ismagilova, Tatyana A. Levko, Natalia Yu Kolbina, Aleksandr V. Bryzzhin, Andrey P. Smorodin, Alexandr V. Borodin, Ekaterina A. Mamaeva, Anna A. Sukhotskaya, Ilya M. Kagantsov, Daria A. Malysheva, Elena S. Vasichkina, Tatiana M. Pervunina, Natalia A. PetrovaAlmazov National Medical Research Centre. Research Centre for Medical Genetics. Russia

Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome Read More »

Genome-wide association study identifies WWC2 as a possible locus associated with persistent pulmonary hypertension of the newborn in the Thai population

Narongsak Nakwan, Punna Kunhapan, Tassamonwan Chaiyasung, Nusara Satproedprai, Kamonnut Singkhamanan, Surakameth Mahasirimongkol, Chariyawan CharalsawadiPrince of Songkla University. Hat Yai Hospital. Ministry of Public Health. Thailand Translational PediatricsTransl Pediatr 2023; DOI: 10.21037/tp-22-280 AbstractBackground: There is known to be significant genetic involvement in persistent pulmonary hypertension of the newborn (PPHN), but to date there is not a clear understanding

Genome-wide association study identifies WWC2 as a possible locus associated with persistent pulmonary hypertension of the newborn in the Thai population Read More »

Neonatal Diagnosis of Alveolar Capillary Dysplasia via Rapid Genomic Sequencing: A New Gold Standard?

Whitney S. Thompson, Ellen M. Bendel-Stenzel, Brendan C. Lanpher, Grace M. Arteaga, Raymond C. Stetson, Stephanie C. MavisMayo Clinic.United States NeonatologyNeonatology 2023; DOI: 10.1159/000529439 AbstractClassic alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare congenital lung disorder presenting in the early neonatal period with refractory hypoxemic respiratory failure and pulmonary hypertension. No curative

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