Symptoms and Findings Associated with Pulmonary Vascular Disease

Phenotypic characterisation of SMAD4 variant carriers

Claire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-GirodFemme-Mère-Enfants Hospital and Hospices Civils de Lyon. Hôpital E. Herriot. Université Claude Bernard Lyon 1. France Journal of Medical GeneticsJ Med Genet 2024; DOI: 10.1136/jmg-2023-109632 AbstractBackground: Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known […]

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Sudden pediatric death unveiling pulmonary arteriovenous malformations

Hadeel Abu-El-Rub, Rashed Shatnawi, Yahia I. Abu Zetun, Doaa Ghorab, Ali M. ShotarYarmouk University. Mansoura University. Jordan University of Science and Technology School of Medicine.Jordan Autopsy Case ReportsAutops Case Rep 2024; DOI: 10.4322/acr.2024.489 AbstractPulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between pulmonary arteries and veins, often associated with hereditary hemorrhagic telangiectasia (HHT). Most PAVMs are

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Neonatal pleural effusion associated with pulmonary sequestration: A case report

Sajal Twanabasu, Shiva Prasad Sharma ChalisePatan Academy of Health Sciences. Nepal Clinical Case ReportsClin Case Rep 2024; 12:DOI: 10.1002/ccr3.8956 AbstractPleural effusion is rare during neonatal period with an estimated prevalence of 0.06%. It may sometimes uncommonly be secondary to pulmonary sequestration. Besides common conditions like hydrops fetalis, congenital heart disease, congenital chylothorax, chromosomal abnormalities; pulmonary sequestration

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A Four-Week-Old Infant With Respiratory Distress: An Emergency Department Case Presentation of Congenital Lobar Emphysema

Kimberly L. Moulton, Andrea FangStanford University.United States CureusCureus 2021; 13: DOI: 10.7759/cureus.13814 AbstractCongenital lobar emphysema (CLE) and congenital pulmonary lymphangiectasis (CPL) are rare conditions that are most often identified with prenatal ultrasonography. Occasionally, this disease process is first identified in the emergency department (ED), where the physician should avoid common pitfalls in order to prevent acute

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Case Report: A Relatively Mild Presentation of Unilateral Congenital Pulmonary Lymphangiectasia

Dionne Adair, Raja Rabah, Maria Ladino-Torres, Thomas G. SabaCS Mott Children’s Hospital and Michigan Medicine.United States Frontiers in PediatricsFront Pediatr 2021; 9: DOI: 10.3389/fped.2021.657473 AbstractPulmonary lymphangiectasia (PL) is a rare congenital disorder of pulmonary lymphatic development. Although it was traditionally a fatal disorder of infancy, some cases in later childhood have been reported, suggesting a spectrum

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Case report: Blotchy skin in a puffy neonate: is there a new association?

Chacko J. Joseph, Arijit Lodha, Soumya R. Thomas, Essa Al Awad, Nicola A. M. Wright, Cora Constantinescu, Doan Le, Majeeda KamaluddeenUniversity of Calgary Cumming School of Medicine. University of Alberta. Canada Frontiers in PediatricsFront Pediatr 2023; 11:DOI: 10.3389/fped.2023.1247343 AbstractIntroduction: Purpura fulminans in the neonatal population is a rare but potentially life-threatening condition complicated by thrombosis, resultant vital

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Serial tissue Doppler imaging in the evaluation of bronchopulmonary dysplasia-associated pulmonary hypertension among extremely preterm infants: a prospective observational study

Krishna Revanna Gopagondanahalli, Abdul Alim Abdul Haium, Shrenik Jitendrakumar Vora, Sreekanthan Sundararaghavan, Wei Di Ng, Tze Liang Jonathan Choo, Wai Lin Ang, Nur Qaiyimah Binte Mohamad Taib, Nishanthi Han Ying Wijedasa, Victor Samuel Rajadurai, Kee Thai Yeo, Teng Hong TanKK Women’s and Children’s Hospital. Yong Loo Ling School of Medicine. Lee Kong Chian School of

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Association of elevated tricuspid regurgitation velocity with cerebrovascular and kidney disease in children with sickle cell disease

Chibuzo Ilonze, Parul Rai, Najibah Galadanci, Rima Zahr, Victoria I. Okhomina, Guolian Kang, Dakshin Padmanabhan, Jeffrey Lebensburger, Ammar Saadoon AlishlashUniversity of Alabama at Birmingham. St. Jude Children’s Research Hospital. University of Tennessee Health Science Center.United States Pediatric Blood and CancerPediatr Blood Cancer 2024;DOI: 10.1002/pbc.31002 AbstractBackground: Tricuspid regurgitation velocity (TRV), measured by echocardiography, is a surrogate marker for

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Infarction of torsed extralobar pulmonary sequestration in adolescence

Shin-Ah Son, Young Woo Do, Young Eun Kim, So Mi Lee, Deok Heon LeeKyungpook National University and Kyungpook National University Hospital. Republic of Korea General Thoracic and Cardiovascular SurgeryGen Thorac Cardiovasc Surg 2020; 68: 77-80DOI: 10.1007/s11748-019-01105-7 AbstractTorsion of pulmonary extralobar sequestration is extremely rare in childhood and adolescence, and as it presents with a variety of

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Extralobar pulmonary sequestration with a complication of torsion: A case report and literature review

Lei Yang, Gang YangWest China Hospital and Sichuan University.China MedicineMedicine 2020; 99:DOI: 10.1097/MD.0000000000021104 AbstractRationale: Pulmonary sequestration is a congenital abnormality of the lower airway. It is characterized by a nonfunctioning mass of lung tissue that lacks normal communication with the tracheobronchial tree or pulmonary arteries and always receives its arterial blood supply from the systemic circulation. Most

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