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Newborn screening in Brazil: realities and challenges.
J Community Genet
January 2025
Laboratório de Hormônios e Genética Molecular-LIM42, Disc de Endocrinologia do Hospital das Clínicas, da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through the analysis of recent data up to 2023, we discuss the coverage and regional efficiencies of the program.
View Article and Find Full Text PDFNup107 contributes to the maternal to zygotic transition by preventing the premature nuclear export of pri-miRNA 427.
Development
January 2025
Pediatric Genomics Discovery Program, Departments of Pediatrics and Genetics, Yale School of Medicine, 333 Cedar Street, New Haven, CT, 06520, USA.
Emerging evidence suggests that the nuclear pore complex can have unique compositions and distinct nucleoporin functions in different cells. Here, we show that Nup107, a key component of the NPC scaffold, varies in expression over development: it is expressed at higher levels in the blastula compared to the gastrula suggesting a critical role prior to gastrulation. We find depletion of Nup107 affects the differentiation of the early germ layers leading to an expansion of the ectoderm at the expense of endoderm and mesoderm.
View Article and Find Full Text PDFIntroduction Mucormycosis is an uncommon fungal infection caused by filamentous fungi of the Mucorales order, namely Rhizopus, Lichthemia, andMucor species. The incidence and prevalence of mucormycosis reached an all-time high during the COVID-19 pandemic due to excessive steroid use and other factors, leading to the coining of the term CAM (COVID Associated Mucormycosis). The diagnosis of mucormycosis is by a combination of histopathology and microbiological techniques, such as KOH mount and culture.
View Article and Find Full Text PDFGallbladder volvulus is a rare but potentially severe condition that requires urgent surgical intervention. This report presents two contrasting cases of gallbladder volvulus with distinct pathogenic mechanisms and degrees of torsion. The first case involves a 97-year-old female who presented with acute symptoms and 270° torsion, leading to complete gallbladder necrosis (Gross type II).
View Article and Find Full Text PDFPrognostic Impact of Aetiology in Adult Hemophagocytic Lymphohistiocytosis: Insights from an Intensive Care Unit Experience.
Eur J Case Rep Intern Med
December 2024
Intensive Care Unit, Pedro Hispano Hospital, Matosinhos Local Health Unit, Matosinhos, Portugal.
Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome marked by excessive immune activation. It can be triggered by various factors, including infections, malignancies, and autoimmune diseases, making the diagnosis challenging due to its overlap with other severe conditions.
Case Reports: We discuss two intensive care unit (ICU) cases illustrating the diverse manifestations of HLH and the critical importance of early recognition and treatment.
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