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

Sickle Cell Disease

MA Bender, Katie CarlbergUniversity of Washington.United States GeneReviews (Internet)GeneReviews 2023;DOI: Not Available. Bookshelf ID: NBK1377 AbstractExcerptClinical characteristics: Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, including the bones, spleen, […]

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Early Echocardiographic Findings of Pulmonary Hypertension-specific Therapy in Children

Akif Kavgaci, Fatma Sedef Tunaoglu, Serdar Kula, Ayse Deniz Oguz, Semiha Terlemez, Fatma IncedereGazi University Faculty of Medicine.Turkey Medeniyet Medical JournalMedeni Med J 2023; 38: 268-275DOI: 10.4274/MMJ.galenos.2023.06706 AbstractObjective: Echocardiography is a very useful tool for the diagnosis and evaluation of pulmonary hypertension (PH). This study was planned to investigate whether echocardiographic (ECHO) data of patients with PH

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Lung Transplantation for Pulmonary Vascular Disease in Children: A United Network for Organ Sharing Analysis

Hosam F. Ahmed, Amalia Guzman-Gomez, Malika Desai, Alia Dani, David L. S. Morales, Paul J. Critser, Farhan Zafar, Don Hayes JrCincinnati Children’s Hospital Medical Center and University of Cincinnati College of Medicine. United States Pediatric CardiologyPediatr Cardiol 2023;DOI: 10.1007/s00246-023-03356-x AbstractPulmonary vascular disease (PVD) represents an important clinical indication for lung transplant (LTx) in infants, children, and

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Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant

Beatrice Desnous, Guillaume Carles, Florence Riccardi, Nathalie Stremler, Melissa Baravalle, Fedouah El-Louali, Benoit Testud, Mathieu MilhTimone Enfant, APHM. Sainte Musse Hospital. Aix-Marseille University. France Prenatal DiagnosisPrenat Diagn 2023;DOI: 10.1002/pd.6505 AbstractBackground: Most periventricular nodular heterotopias (PNHs) are associated with a mutation in the filamin A (FLNA) gene in Xq28. This condition is associated with cardiovascular malformations, connective tissue

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Current diagnosis and treatment practice for pulmonary hypertension in bronchopulmonary dysplasia-A survey study in Germany (PUsH BPD)

Friederike Häfner, Caroline Johansson, Larissa Schwarzkopf, Kai Förster, Yvonne Kraus, Andreas W. Flemmer, Georg Hansmann, Hannes Sallmon, Ursula Felderhoff‐Müser, Sabine Witt, Lars Schwettmann, Anne HilgendorffHelmholtz Munich. Dr. von Hauner Children’s Hospital and LMU University Hospital. IFT Institute für Therapieforschung Centre for Mental Health and Addiction Research. Hannover Medical School. Medical University of Graz. University Hospital

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Novel Relationship between Mitofusin 2-Mediated Mitochondrial Hyperfusion, Metabolic Remodeling, and Glycolysis in Pulmonary Arterial Endothelial Cells

Manivannan Yegambaram, Xutong Sun, Alejandro Garcia Flores, Qing Lu, Jamie Soto, Jaime Richards, Saurabh Aggarwal, Ting Wang, Haiwei Gu, Jeffrey R. Fineman, Stephen M. BlackFlorida International University. University of California San Francisco.United States International Journal of Molecular SciencesInt J Mol Sci 2023; 24:DOI: 10.3390/ijms242417533 AbstractThe disruption of mitochondrial dynamics has been identified in cardiovascular diseases, including

Novel Relationship between Mitofusin 2-Mediated Mitochondrial Hyperfusion, Metabolic Remodeling, and Glycolysis in Pulmonary Arterial Endothelial Cells Read More »

Surgical outcomes of common arterial trunk repair beyond infancy

Chinnaswamy Reddy, Ameya Kaskar, Govardhan Reddy, Niranjan Soundararajan, S. Satheesh, Viralam S. Kiran, Pujar Venkateshauarya SureshNarayana Health. India Indian Journal of Thoracic and Cardiovascular SurgeryIndian J Thorac Cardiovasc Surg 2024; 40: 9-16DOI: 10.1007/s12055-023-01549-w AbstractBackground: The aim of this study is to analyze the clinical outcomes of common arterial trunk repair beyond infancy in terms of both early-

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Factors associated with the response to postnatal dexamethasone use in very low birthweight infants: a nationwide cohort study

Seung Hwan Baek, Jeong Eun Shin, Jungho Han, In Gyu Song, Joonsik Park, Su Min Lee, Sungbo Shim, Ho Seon Eun, Soon Min Lee, Joohee Lim, So Jin Yoon, Wook Chang, Min Soo ParkSeverance Hospital. Gangnam Severance Hospital. Yongin Severance Hospital. Republic of Korea British Medical Journal Paediatrics OpenBMJ Paediatr Open 2023;DOI: 10.1136/bmjpo-2023-002302 AbstractBackground: Dexamethasone is widely

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Cardiovascular complications of sickle cell disease: A primer for the general clinician

Chibuzo Ilonze, Gift C. Echefu, Alexandria L. Broadnax, Adedoyin Johnson, Aniekeme Etuk, Onyedika J. IlonzeUniversity of Alabama at Birmingham. University of Tennessee Health Science Center. Indiana University School of Medicine. Infirmary Health Thomas Hospital.United States Journal of the National Medical AssociationJ Natl Med Assoc 2023;DOI: 10.1016/j.jnma.2023.11.010 AbstractSickle cell disease (SCD) is the most common hereditary hemoglobinopathy

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LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17

Tariq Al Jabry, Nadia Al-Hashmi, Basem Abdelhadi, Almundher Al-MaawaliSultan Qaboos University Hospital. Royal Hospital.Oman European Journal of Medical GeneticsEir J Med Genet 2023;DOI: 10.1016/j.ejmg.2023.104903 AbstractLRP4 is expressed in many organs. It mediates SOST-dependent inhibition of bone formation and acts as an inhibitor of WNT signaling. It is also a postsynaptic end plate cell surface receptor at

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