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RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease.
Eur J Hum Genet
January 2025
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
The etiology of congenital heart disease (CHD) is complex, comprising both genetic and environmental factors. Despite documented familial occurrences, the genetic etiology remains largely elusive. Trio exome sequencing identified a heterozygous FLT4 splice site variant in two families with respectively tetralogy of Fallot (TOF), and variable CHD comprising both the TOF spectrum and aortic coarctation.
View Article and Find Full Text PDFPreclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency.
Commun Med (Lond)
January 2025
Rare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Background: Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease. There are no available targeted therapies for MSD.
Methods: We engineered a viral vector (AAV9/SUMF1) to deliver working copies of the SUMF1 gene and tested the vector in Sumf1 knock out mice that generally display a median lifespan of 10 days.
19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchs' Endothelial Dystrophy Including the 6th Generation in a Pedigree.
Klin Monbl Augenheilkd
January 2025
Ophthalmology, Talacker Eye Center Zurich (TAZZ), Switzerland.
Background: Nineteen-year follow-up after initial examination on patients with Axenfeld-Rieger anomaly or syndrome (ARAS) and coexisting Fuchs' endothelial dystrophy (FED). All individuals had previously been tested positive for the PITX2 (g.20 913 G>T) mutation.
View Article and Find Full Text PDFThe Portrayal of the Nursing Profession in World-Famous Paintings.
Holist Nurs Pract
January 2025
Author Affiliations: College of Nursing, Shanxi Medical University, Taiyuan City, Shanxi Province, China (Dr L. Wang and Ms Yaru); Peking Union Medical College Hospital, Beijing Province, China (Ms Change); Fenyang College of Shanxi Medical University, Lvliang City, Shanxi Province, China (Ms J. Wang); Department of Nursing, The Second Affiliated Hospital Zhejiang University School of Medicine, Hangzhou City, Zhejiang Province, China (Ms Yang); and Department of Otorhinolaryngology Head and Neck Surgery, The First Hospital of Shanxi Medical University, Taiyuan City, Shanxi Province, China (Dr Zhang).
This study compiled 39 representative world-famous paintings, which depict the images of nurses in different historical periods. According to the sorting results, the paintings were created between 1662 and 1962. The evolution of nursing is delved into by examining depictions of nurses in historical artworks.
View Article and Find Full Text PDFMelatonin influence on miRNA expression in sperm, hypothalamus, pre-frontal cortex and cerebellum of Wistar rats.
PLoS One
January 2025
Laboratory of Developmental Biology, Department of Morphology and Genetics-Paulista Medicine School, Federal University of Sao Paulo (UNIFESP), Sao Paulo, SP, Brazil.
Melatonin is a pineal hormone synthesized exclusively at night, in several organisms. Its action on sperm is of particular interest, since they transfer genetic and epigenetic information to the offspring, including microRNAs, configuring a mechanism of paternal epigenetic inheritance. MicroRNAs are known to participate in a wide variety of mechanisms in basically all cells and tissues, including the brain and the sperm cells, which are known, respectively, to present 70% of all identified microRNAs and to transfer these molecules to the embryo.
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