Filed (PHiled). Greater than 1-2 years since publication

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 »

Omphalocele, Exstrophy of Cloaca, Imperforate Anus, and Spinal Defects Complex: A Case Report

Suraj Singh, Anuj Kayastha, Anupama Thapa, Bijay Thapa, Sulochana DahalKanti Children’s HospitalNepal Journal of the Nepal Medical AssociationJ Nepal Med Assoc 2022; 61: 375-378DOI: 10.31729/jnma.8048 AbstractOmphalocele, exstrophy of cloaca, imperforate anus, and spinal defects complex is a rare malformation complex that includes omphalocele, cloacal exstrophy, imperforate anus and spinal defects with the incidence of 1 in

Omphalocele, Exstrophy of Cloaca, Imperforate Anus, and Spinal Defects Complex: A Case Report Read More »

Impact of premature rupture of membranes on clinical outcomes of extremely premature infants: A propensity score matching study

Jing-Ke Cao, Chang-Geng Liu, Dan Wang, Qiu-Ping LiSouthern Medical University. The Seventh Medical Center of PLA General Hospital.China Frontiers in PediatricsFront Pediatr 2023; 11: DOI: 10.3389/fped.2023.1144373 AbstractBackground: Premature rupture of membranes (PROM) is a common cause of extremely premature infants (EPIs) and also leads to adverse preterm complications. However, the effect of PROM on EPIs remains contradictory.

Impact of premature rupture of membranes on clinical outcomes of extremely premature infants: A propensity score matching study Read More »

The use of milrinone in neonates with persistent pulmonary hypertension of the newborn – a randomised controlled trial pilot study (MINT 1)

Afif EL-Khuffash, Patrick J. McNamara, Colm Breatnach, Neidin Bussmann, Aisling Smith, Oliver Feeney, Elizabeth Tully, Joanna Griffin, Willem P. de Boode, Brian Cleary, Orla Franklin, Eugene DempseyThe Rotunda Hospital. Royal College of Surgeons in Ireland. University of Iowa. Radboud University Medical Center. Our Lady’s Children’s Hospital Crumlin. University College Cork.Ireland, United States and Netherlands Journal

The use of milrinone in neonates with persistent pulmonary hypertension of the newborn – a randomised controlled trial pilot study (MINT 1) Read More »

Impact of a standardized management guideline for infants with CDH: A single-center experience

Katrin Lichtsinn, Paul K. Waltz, Abeer Azzuga, Joseph Church, Jacqueline Graham, Jennifer Troutman, Burhan MahmoodUniversity of Pittsburgh Medical Center. United States Journal of Pediatric SurgeryJ Pediatr Surg 2023; 58: 389-396DOI: 10.1016/j.jpedsurg.2022.07.022 AbstractBackground: Infants with congenital diaphragmatic hernia (CDH) are at high risk of death, even despite extracorporeal membrane oxygenation (ECMO) support. In January 2012 we implemented a

Impact of a standardized management guideline for infants with CDH: A single-center experience Read More »

Paediatric porto-sinusoidal vascular disease: Two different clinical phenotypes with subtle histological differences

Angelo Di Georgio, Lorenza Matarazzo, Aurelio Sonzogni, Emanuele Nicastro, Andrea Pietrobattista, Mara Cananzi, PAola Gaio, Marco Sciveres, Grazia Di Leo, Raffaele, Iorio, Antonio Marseglia, Greta Carioli, Giuseppe Maggiore, Maria Guido, Lorenzo D’AntigaHospital Papa Giovanni XXIII. IRCCS Bambino Gesù, Pediatric Hospital. University Hospital of Padova.  Istituto Mediterraneo per i Trapianti e Terapie. IRCCS Burlo Garofolo. University

Paediatric porto-sinusoidal vascular disease: Two different clinical phenotypes with subtle histological differences 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

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

Case-based discussion: neonates on extracorporeal membrane oxygenation for undiagnosed recalcitrant pulmonary hypertension-management challenges

John A. King, Ajay Desai, Tom Semple, Andrew G. Nicholson, Andrew Bush, Samantha SonnappaRoyal Brompton Hospital. Imperial College London.United Kingdom ThoraxThorax 2023; 78: 107-109DOI: 10.1136/thorax-2021-217857 AbstractWe present two neonates requiring extracorporeal membrane oxygenation for undiagnosed recalcitrant pulmonary hypertension, highlighting the clinical and ethical dilemmas in management of very rare diseases. CategoryClass I. Persistent Pulmonary Hypertension of

Case-based discussion: neonates on extracorporeal membrane oxygenation for undiagnosed recalcitrant pulmonary hypertension-management challenges Read More »

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

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

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