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Surviving trisomy 18: A case report of a 5-year-old girl

Mohamad A. Banat, Ramzi Mujahed, Sama S. Yaseen, Nada A. Makhalfeh, Shahed O. Rajabi, Baraa Abu Aisheh, Rama N. BasheerPalestine Polytechnic University. Princess Alia Governmental Hospital.Palestine MedicineMedicine 2025; 104: DOI: 10.1097/MD.0000000000044225 AbstractRationale: Trisomy 18, often known as Edwards syndrome. It is a common chromosomal disorder characterized by the presence of an extra chromosome 18. Unfortunately, survival past

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Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder

Riya Mary Tharakan, Sanjay Rajwal, Bernd C. SchwahnSt Mary’s Hospital Manchester University NHS Foundation Trust. Leeds Children’s Hospital. Medicine and Health University of Manchester. United Kingdom Journal of Inherited Metabolic Disorders ReportsJIMD Rep 2025; DOI: 10.1002/jmd2.70026 AbstractWe report the case of an 11-year-old girl who developed hepatopulmonary syndrome (HPS) as a rare complication of Zellweger spectrum

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Premature monozygotic twins with congenital diaphragmatic hernia: a case report

Muhammet Zahit Koyuncu, Ayşegül Aşkın, Hüseyin Altunhan, Nuriye Emiroğlu, Canan KocaoğluNecmettin Erbakan University. Turkey Sudanese Journal of PaediatricsSudan J Paediatr 2025; 25: 66-70DOI: 10.24911/SJP.106-1746615665 AbstractCongenital diaphragmatic hernia (CDH) is a severe developmental anomaly with variable clinical outcomes, influenced by factors such as liver herniation, pulmonary hypertension and associated anomalies. While familial clustering of CDH has been

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Cardiac magnetic resonance in systemic sclerosis: imaging features and potential prognostic implications. A literature review

Giovanni Vitale, Matteo Colina, Domenico Attinà, Fabio Niro, Paolo OrtolaniOspedale Santa Maria della Scaletta. IRCCS Azienda Ospedaliero-Universitaria di Bologna.Italy Frontiers in MedicineFront Med 2025; 12: DOI: 10.3389/fmed.2025.1606593 AbstractSystemic sclerosis (SSc) is a chronic, multisystem disorder characterized by vascular dysfunction, immune dysregulation with production of autoantibodies, fibroblasts dysfunction and consequent abnormal collagen production, leading to progressive fibrosis

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Outcomes for Congenital Diaphragmatic Hernia in Three Decades: A Report From a UK Surgical Centre

Wan Teng Lee, Paul D. LostyUniversity of Liverpool. Alder Hey Children’s Hospital Liverpool. Ramathibodi Hospital and Mahidol University.United Kingdom and Thailand Acta PaediatricaActa Paediatr 2025; DOI: 10.1111/apa.70295 AbstractAims: Congenital diaphragmatic hernia (CDH) is associated with lung hypoplasia, pulmonary hypertension and high mortality. Three decades experience from a UK centre is reported.Methods: Medical records of CDH newborns between February

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Nebulized nitroglycerin as an adjuvant drug in management of persistent pulmonary hypertension of newborns: a randomized controlled trial

Marwa Mohammed Farag, Hesham Abd El‑Rahim Ghazal, Aly Mohamed Abdel‑Mohsen, Moataz Ahmed RezkAlexandria University Hospital, Alexandria. Egypt European Journal of PediatricsEur J Pediatr 2025; 184: DOI: 10.1007/s00431-025-06381-5 AbstractThe objective was to evaluate the effect of nebulized nitroglycerin (NNG) in neonates with persistent pulmonary hypertension (PPHN). The study focused on assessing changes in echocardiographic and clinical parameters

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Supravalvular aortic stenosis – Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood

Sini Keskinen, Jussi Niemelä, Hannele Koillinen, Talvikki Boldt, Anita ArolaTurku University Hospital and University of Turku. New Children’s HospitalFinland Cardiovascular Revascularization MedicineCardiovasc Revasc Med 2025; DOI: 10.1016/j.carrev.2025.04.027 AbstractBackground: Supravalvular aortic stenosis (SVAS) is an autosomal dominantly inherited congenital cardiovascular disease caused by disruption of elastin gene (ELN), encoding elastin, an essential component of elastic arteries. It usually

Supravalvular aortic stenosis – Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood Read More »

Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY)

Bita Salamat, Sara B. Stephens, Jolie J. Britt, Taylor Beecroft-Dawson, Andrea Taylor, Laura Muiño Mosquera, Bert Callewaert, Aude Beyens, Alexandra Channing, Michael P. Dilorenzo, Justin Weigand, Benjamin Jacob, Eudice Fontenot, Shaine A. MorrisTexas Children’s Hospital and Baylor College of Medicine. University of Texas Health Science Center. A Twist of Fate. Ghent University Hospital and Ghent

Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY) Read More »

Global Burden of Pediatric Pulmonary Arterial Hypertension, 1990-2021: A Systematic Analysis from the Global Burden of Disease Study 2021

Taixiang Liu, Xiaoliang Liu, Chenhong Wang, Jinxin Zheng, Liping Shi, Zheng ChenChildren’s Hospital, Zhejiang University School of Medicine. West China Second University Hospital, Sichuan University. Shanghai Jiao Tong University School of Medicine. China Pediatric CardiologyPediatr Cardiol 2025; DOI: 10.1007/s00246-025-04009-x AbstractPediatric pulmonary arterial hypertension (PAH) remains a critical global health threat characterized by disparities in burden driven

Global Burden of Pediatric Pulmonary Arterial Hypertension, 1990-2021: A Systematic Analysis from the Global Burden of Disease Study 2021 Read More »

What is the role of echocardiography in newborns with CDH?

María V. Fraga, Gabriel Altit, Bradley A. Yoder, Shazia BhombalChildren’s Hospital of Philadelphia, Perelman School of Medicine and University of Pennsylvania. McGill University. University of Utah School of Medicine. Children’s Healthcare of Atlanta/Emory University.United States and Canada Seminars in Fetal and Neonatal MedicineSemin Fetal Neonatal Med 2025;DOI: 10.1016/j.siny.2025.101657 AbstractCongenital diaphragmatic hernia (CDH) is associated with high

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