Genetic Factors Associated With Pulmonary Vascular Disease

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 »

Flexible bronchoscopy in pediatric patients with Down syndrome: A case-control study of the indications, findings, and complications

Noga Arwas, Aviv Goldbart, Micha Aviram, Yotam Dizitzer, Itay Pansky, Inbal Golan-TriptoSoroka University Medical Center. Ben-Gurion University of the Negev.Israel Pediatric PulmonologyPediatr Pulmonol 2023; 58: 1658-1664DOI: 10.1002/ppul.26371 AbstractBackground: Children with Down syndrome (DS) often undergo flexible bronchoscopies (FB) due to common respiratory symptoms.Objective: To examine the indications, findings, and complications of FB in pediatric DS patients.Methods: A retrospective case-control

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An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations

Frances O. Flanagan, Alexander M. Holtz, Sara O. Vargas, Casie A. Genetti, Klaus Schmitz-Abe, Alicia Casey, John C. Kennedy, Benjamin A. Raby, Mary P. Mullen, Martha P. Fishman, Pankaj B. AgrawalBoston Children’s Hospital and Harvard Medical School. University of Miami Miller School of Medicine.United States Nature Partner Journals Genomic MedicineNPJ Genom Med 2023; 8: DOI: 10.1038/s41525-023-00350-3

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Descriptive images and features of pulmonary vascular disease in a child with a FOXF1 variant

Ronald W. Day, Khanh V. Lai, Hailey N. Baisch, Isabel C. LauUniversity of Utah and Primary Children’s Hospital. St. Luke’s Children’s Treasure Valley Pediatrics. Mountainstar Ogden Pediatrics.United States Pediatric PulmonologyPediatr Pulmonol 2023; DOI: 10.1002/ppul.26480 AbstractNo abstract CategoryClass III. Pulmonary Hypertension Associated with Developmental Diseases of the LungGenetic Factors Associated with Pulmonary Vascular DiseaseDiagnostic Testing for Pulmonary

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