is the most common cause of fungal meningitis and the top-ranked W.H.O.
View Article and Find Full Text PDFObjective: The aim of this study is to define a comprehensive and repeatable contrast-enhanced ultrasound (CEUS) imaging protocol and analysis method to quantitatively assess lesional blood flow. Easily repeatable CEUS evaluations are essential for longitudinal treatment monitoring. The quantification method described here aims to provide a structure for future clinical studies.
View Article and Find Full Text PDFBackground: Bloom Syndrome (BSyn) is an autosomal recessive disorder caused by biallelic germline variants in which functions to maintain genomic stability. BSyn patients have poor growth, immune defects, insulin resistance, and a significantly increased risk of malignancies, most commonly hematologic. The malignancy risk in carriers of pathogenic variants in ( variant carriers) remains understudied.
View Article and Find Full Text PDFOver three percent of people carry a dominant pathogenic variant, yet only a fraction of carriers develop disease. Disease phenotypes from carriers of variants in the same gene range from mild to severe. Here, we investigate underlying mechanisms for this heterogeneity: variable variant effect sizes, carrier polygenic backgrounds, and modulation of carrier effect by genetic background (marginal epistasis).
View Article and Find Full Text PDFArboleda-Tham Syndrome (ARTHS) is a rare genetic disorder caused by heterozygous, truncating mutations in . ARTHS is clinically heterogeneous and characterized by several common features including intellectual disability, developmental and speech delay, hypotonia and affects multiple organ systems. is highly expressed in early development and plays a key role in cell-type specific differentiation.
View Article and Find Full Text PDFBackground: Asian American and Pacific Islander (AAPI) melanoma patients have higher mortality than non-Hispanic White (NHW) patients. Treatment delays may contribute, but whether AAPI patients have longer time from diagnosis to definitive surgery (TTDS) is unknown.
Objectives: Investigate TTDS differences between AAPI and NHW melanoma patients.
Background: Pathogenic mutations in genes that control chromatin function have been implicated in rare genetic syndromes. These chromatin modifiers exhibit extraordinary diversity in the scale of the epigenetic changes they affect, from single basepair modifications by DNMT1 to whole genome structural changes by PRM1/2. Patterns of DNA methylation are related to a diverse set of epigenetic features across this full range of epigenetic scale, making DNA methylation valuable for mapping regions of general epigenetic dysregulation.
View Article and Find Full Text PDFThe phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a.
View Article and Find Full Text PDFImportance: According to the National Residency Matching Program's biennial Charting Outcomes in the Match (NRMP ChOM) reports, the mean number of research items of matched allopathic dermatology applicants has nearly tripled since 2007, rising from 5.7 to 14.7.
View Article and Find Full Text PDFCell sheet morphogenesis is essential for metazoan development and homeostasis of animal form - it contributes to developmental milestones including gastrulation, neural tube closure, heart and palate formation and to tissue maintenance during wound healing. Dorsal closure, a well-characterized stage in embryogenesis and a model for cell sheet morphogenesis, is a remarkably robust process during which coordination of conserved gene expression patterns and signaling cascades regulate the cellular shape changes and movements. New 'dorsal closure genes' continue to be discovered due to advances in imaging and genetics.
View Article and Find Full Text PDFWe found evidence of late-onset Alzheimer disease (LOAD)-associated genetic polymorphism within an exon of Mucin 6 (MUC6) and immediately downstream from another gene: Adaptor Related Protein Complex 2 Subunit Alpha 2 (AP2A2). PCR analyses on genomic DNA samples confirmed that the size of the MUC6 variable number tandem repeat (VNTR) region was highly polymorphic. In a cohort of autopsied subjects with quantitative digital pathology data (n = 119), the size of the polymorphic region was associated with the severity of pTau pathology in neocortex.
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