Genetic Factors Associated With Pulmonary Vascular Disease

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

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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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Evaluation of newborns with Down syndrome with weight less than 1500 g in the neonatal intensive care unit: A Japanese multicentre study

Shuji Ishida, Hidehiko Nakanishi, Yukako Kosaka, Ayano Yamaguchi, Mari Ooka, the Neonatal Research NetworkKitasato University Hospital. Japan Journal pf Paediatrics and Child HealthJ Paediatr Child Health 2023; DOI: 10.1111/jpc.16418 AbstractAim: This study aimed to clarify the characteristics and their mortality-related factors in very low birthweight infants with Down syndrome (DS) in Japan.Methods: This retrospective case-control study enrolled newborns

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Rapid genetic diagnosis of neonatal persistent pulmonary hypertension with a novel FOXF1 mutation

Jeng-Hung Wu, Yu-Jui Wang, Jay-Yu Liau, Ni-Chung Lee, En-Ting WuNational Taiwan University Hospital and National Taiwan University College of Medicine.Taiwan Pediatrics and NeonatologyPediatr Neonatol 2023; DOI: 10.1016/j.pedneo.2022.12.010 AbstractNo Abstract CategoryClass III. Pulmonary Hypertension Associated with Developmental Diseases of the LungGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication:

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Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study

Maurike Dorothea de Groot‑van der Mooren, Brigitta Catharina Scheerman, Lukas Augustinus Johannes Rammeloo, Hester van Wieringen, Anne‑Marie van Wermeskerken, Roos van der Plas, Peter de Winter, Michel Emile Weijerman, Martina Cornelia Cornel, Anton Hubertus van KaamAmsterdam UMC Location University of Amsterdam. Amsterdam Public Health Research Institute. Amsterdam Reproduction & Development Research Institute. St. Antonius Ziekenhuis. Flevoziekenhuis, Hospitaalweg 1. Spaarne Gasthuis. KU Leuven. Alrijne Hospital. Netherlands and Belgium European Journal of PediatricsEur J Pediatr 2023; 182: 319-328DOI: 10.1007/s00431-022-04686-3 AbstractThe total uptake of prenatal

Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study Read More »

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