Genetic Factors Associated With Pulmonary Vascular Disease

The evaluation of the SMAD1 rs1016792 polymorphism and gene expression on pulmonary hypertension due to congenital heart disease in children: a preliminary study

Adnan Selim Kimyon, Aysegul Cetinkaya, Oglu Hallioglu Kilinc, Nurcan ArasMersin University and Forum Yasam Hospital.Turkey Nucleosides Nucleotides and Nucleic AcidsNucleosides Nucleotides Nucleic Acids 2024; 26:DOI: 10.1080/15257770.2024.2322109 AbstractSmad Family Member (SMAD), a protein family responsible for transducing the signal induced by TGF-β into the nucleus, is thought to play a role in the pathology of many heart […]

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First locus for primary pulmonary vein stenosis maps to chromosome 2q

Ingrid van de Laar, Marja Wessels, Ingrid Frohn-Mulder, Michiel Dalinghaus, Bianca de Graaf, Marianne van Tienhoven, Paul van der Moer, Margreet Husen-Ebbinge, Maarten Lequin, Dennis Dooijes, Ronald de Krijger, Ben A. Oostra, Aida M. Bertoli-AvellaErasmus Medical Center. Medical Center Rijnmond-Zuid. Netherlands European Heart JournalEur Heart J 2009; 30: 2485–2492DOI: 10.1093/eurheartj/ehp271 AbstractAims: Primary pulmonary vein stenosis (PVS) is

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Successful treatment of pulmonary arterial hypertension in a 2-month-old female infant with incontinentia pigmenti: A case report

Marta Marcia, Paola Coppo, Giuseppe Alberto Annoni, Gaetana Ferraro, Gabriella Agnoletti, Giuseppe Antonio MazzaCity of Health and Science Hospital.Italy Annals of Pediatric CardiologyAnn Pediatr Cardiol 2023; 16: 297-300DOI: 10.4103/apc.apc_75_23 AbstractIncontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia affecting almost exclusively females. It is caused by loss-of-function mutations in the inhibitor of kappa light polypeptide

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Emerging Epigenetic Targets and Their Molecular Impact on Vascular Remodeling in Pulmonary Hypertension

A. Dushani, C. U. Ranasinghe, T. M. Parinda B. Tennakoon, Margaret A. SchwarzBoston Children’s Hospital and Harvard Medical School. Indiana University School of Medicine.United States CellsCells 2024; 13:DOI: 10.3390/cells13030244 AbstractPulmonary Hypertension (PH) is a terminal disease characterized by severe pulmonary vascular remodeling. Unfortunately, targeted therapy to prevent disease progression is limited. Here, the vascular cell populations

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Transient abnormal myelopoiesis requiring advanced neonatal intensive care treatment

Maria Chalia, Emilie Seager, Anupama Rao, Simon HannamGreat Ormond Street Hospital for Children.United Kingdom Acta PaediatricaActa Paediatr 2024; DOI: 10.1111/apa.17142 AbstractAim: Five to thirty percent of neonates with trisomy 21 develop transient abnormal myelopoiesis (TAM) with a high mortality rate. The aim of the study was to identify contributing factors that determine mortality and need for chemotherapy

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[Clinical and genetic analysis of a patient with HUPRA syndrome due to missense variants of SARS2 gene and literature review]

J. Huang, Q. Y. Li. W. Ji, X.F. Guo, X. H. HuFujian Children’s Hospital. Beijing Anzhen Hospital and Capital Medical University. Shanghai Jiaotong University School of Medicine and Shanghai Children’s Medical Center. Fujian Provincial Maternity and Children’s Hospital. Xinhua Hospital.China Zhonghua Xin Xue Guan Bing Za Zhi 2024; 52: 172-179DOI: 10.3760/cma.j.cn112148-20231009-00268 Abstract (English)Objective: To explore the clinical

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A rare presentation of childhood interstitial lung disease attributed to KDM3B gene mutation: a case report

Zaineb Benslimane, Sinan Yavuz, Nader FrancisAl Qassimi Women and Children Hospital.United Arab Emirates PanAfrican Medical JournalPan Afr Med J 2023; 46DOI: 10.11604/pamj.2023.46.84.41457 AbstractChildhood Interstitial Lung Disease (chILD) encompasses various respiratory conditions affecting children’s lung airspaces and tissues, with diverse causes. One rare cause involves structural vascular changes. We describe a case of a 10-year-old boy diagnosed

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Rescuing lung development through embryonic inhibition of histone acetylation

Giangela Stokes, Zhuowei Li, Nicole Talaba, William Genthe, Maria B. Brix, Betty Pham, Mark D. Weihold, Gracia Sandok, Rebecca Hernan, Julia Wynn, Haiyang Tang, Diana M. Tabima, Allison Rodgers, Timothy A. Hacker, Naomi C. Chesler, Pan Zhang, Rabi Murad, Jason X.-J. Yuan, Yufeng Shen, Wendy K. Chung, David J. McCulleyUniversity of California, San Diego. University

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Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature

Elias Edward Lahham, JuhinaJamal Hasassneh, Dua Osamah Adawi, Mohamad Khaled IsmailAugusta Victoria Hospital. Beit-Jala Governmental Hospital.Palestine Oxford Medical Case ReportsOxford Med Case Rep 2023; 11: 407–409DOI: 10.1093/omcr/omad119 AbstractHyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis (HUPRA syndrome) is a rare autosomal recessive mitochondrial disease with a prevalence of <1:1 000 000, due to variations in

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Twins with alveolar capillary dysplasia with misalignment of pulmonary veins: Strategies for diagnosis and management

Sinead Brady, Usha Krishnan, Anjali Saqi, Diane VargasNew York Presbyterian-Morgan Stanley Children’s Hospital and Columbia University Irving Medical CenterUnited States Journal of Neonatal and Perinatal MedicineJ Neonatal Perinatal Med 2024;DOI: 10.3233/NPM-230085 AbstractWe present a case of dichorionic-diamniotic twin females who developed hypoxemic respiratory failure. They were ultimately diagnosed by lung biopsy with alveolar capillary dysplasia with

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