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Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.
Am J Med Genet A
January 2025
Department of Pediatrics, University of Connecticut School of Medicine, Farmington, Connecticut, USA.
P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous missense variant in PAK2, NM_002577.
View Article and Find Full Text PDFPrevalence and Types of Congenital Anomalies in Singleton Pregnancies at a Tertiary Care Hospital.
Cureus
December 2024
Obstetrics and Gynecology, Shalamar Medical and Dental College, Lahore, PAK.
Introduction Congenital malformations are a major cause of perinatal morbidity and mortality in developing countries and are assuming greater importance than ever before. They affect a variety of organ systems and various etiologies have been identified in literature including Toxoplasmosis, Other (syphilis, varicella-zoster, parvovirus B19), Rubella, Cytomegalovirus, Herpes Simplex (TORCH) infections, exposure to pollutants, consumption of tobacco and alcohol, and advanced maternal age. In developing countries, diagnosis is frequently delayed which leads to poorer outcomes.
View Article and Find Full Text PDFUnlabelled: During vertebrate development, the heart primarily arises from mesoderm, with crucial contributions from cardiac neural crest cells that migrate to the heart and form a variety of cardiovascular derivatives. Here, by integrating bulk and single cell RNA-seq with ATAC-seq, we identify a gene regulatory subcircuit specific to migratory cardiac crest cells composed of key transcription factors and . Notably, we show that cells expressing the canonical neural crest gene are essential for proper cardiac regeneration in adult zebrafish.
View Article and Find Full Text PDFNeonatal and Pediatric Pulmonary Vascular Disease.
Radiol Clin North Am
March 2025
Department of Radiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Pediatric patients are affected by a wide variety of pulmonary vascular diseases ranging from congenital anomalies diagnosed at birth to acquired diseases that present later in childhood and into adolescence. While some pulmonary vascular diseases present similarly to those seen in adults, other forms are unique to children. Knowledge of the characteristic imaging features of these diseases is essential to facilitate prompt diagnosis and guide clinical management.
View Article and Find Full Text PDFDynamics search of highly magnetized blood laden with copper-gold-titania nanoparticles in a ciliary artery with catheterization and entropy.
Electromagn Biol Med
January 2025
Department of Mathematics, University of Gour Banga, Malda, India.
Article Synopsis
- Biomagnetic fluid dynamics (BFD) focuses on the behavior of bio-fluids, like blood, impacted by magnetic fields, which is important for medical applications such as targeted medication delivery and tumor treatment.
- This study examines blood flow dynamics using trihybrid nanoparticles in a catheterized artery, factoring in various electromagnetic influences and propulsion mechanisms.
- Key findings include that increasing Hall and ion-slip parameters boosts blood velocity, modifies entropy generation, and shows that modified hybrid nano-blood forms smaller, more manageable clumps compared to pure blood, with longer cilia enhancing recovery of these clumps.
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