Critical congenital heart disease (CCHD) is a heart lesion for which neonates require early surgical intervention to survive. Without intervention, the rates of mortality and survival with significant disability are extremely high. Early diagnosis can potentially improve health outcomes in newborns with CCHD. Until recent years, no routine screening protocol existed. In the last few years, pulse oximetry screening for CCHD in newborns has been added to the list of recommended uniform screening panels and advocated by several health-care authorities. A positive screening test result warrants an echocardiogram to evaluate for CCHD. Newborn screens do not usually require parental consent. However, most of the states mandates in the United States include a statement allowing exemption from the screen on the basis of parental religious or personal beliefs.
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http://dx.doi.org/10.4103/2231-0770.184062 | DOI Listing |
Pharmaceuticals (Basel)
January 2025
Department of Pharmacy Sciences, School of Pharmacy and Health Professions, Creighton University, Omaha, NE 68178, USA.
Inherited retinal disorders (IRDs) represent a group of challenging genetic conditions that often lead to severe visual impairment or blindness. The complexity of these disorders, arising from their diverse genetic causes and the unique structural and functional aspects of retinal cells, has made developing effective treatments particularly challenging. Recent advancements in gene therapy, especially non-viral nucleic acid delivery systems like liposomes, solid lipid nanoparticles, dendrimers, and polymersomes, offer promising solutions.
View Article and Find Full Text PDFBackground/objectives: The failure of physiological left-right (LR) patterning, a critical embryological process responsible for establishing the asymmetric positioning of internal organs, leads to a spectrum of congenital abnormalities characterized by laterality defects, collectively known as "heterotaxy". biallelic variants have recently been associated with heterotaxy syndrome and congenital heart defects (CHD). However, the genotype-phenotype correlations and the underlying pathogenic mechanisms remain poorly understood.
View Article and Find Full Text PDFBiomolecules
December 2024
Department of Immunology (LIH), Institute of Biomedical Sciences, University of São Paulo, Av. Prof. Lineu Prestes, 2415-Butantã, São Paulo 05508-000, SP, Brazil.
In this study, we investigated the role of extracellular vesicles (EVs) in the pathogenesis of Congenital Zika Syndrome (CZS). Previous studies have highlighted the role of EVs in intercellular communication and the modulation of biological processes during viral infections, motivating our in-depth analysis. Our objective was to identify specific molecular signatures in the EVs of patients with CZS, focusing on their potential as biomarkers and on cellular pathways affected by the infection.
View Article and Find Full Text PDFBiomedicines
January 2025
Clinic of Obstetrics and Gynaecology, Faculty of Medicine, Institute of Clinical Medicine, Vilnius University, 03101 Vilnius, Lithuania.
A wide range of syphilis-related pregnancy complications are encountered in clinical practice. Active surveillance of the epidemiological situation in different countries and a series of retrospective data analyses allow for a comprehensive assessment of the feasible consequences of syphilis infection during pregnancy. The negative effects of infection on reproductive health are also described.
View Article and Find Full Text PDFMicrob Pathog
January 2025
Tropical Projects, Hitchin, United Kingdom. Electronic address:
Background: Toxoplasma infections are highly prevalent worldwide and can cause serious complications in immunocompromised individuals and lead to congenital infections in neonates. Despite ongoing efforts to develop T. gondii vaccines, none have been developed.
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