Histiocytoses constitute a group of heterogeneous disorders characterized by involvement of variable organs by neoplastic macrophage or dendritic cells. They may affect both adults and children with a predilection to the skin, bone, lungs, lymph nodes, and CNS. The coexistence of different types of histiocytoses in the same patient is an extremely rare phenomenon.
View Article and Find Full Text PDFBackground: Latino populations, especially those of Mexican ancestry, face higher rates of both cardiometabolic diseases and food insecurity, compounding negative health outcomes. Food insecurity is associated with poor dietary choices, which not only worsen cardiometabolic health but also contribute to various health complications, making it a critical public health issue in these communities. The aim of this study was to investigate the prevalence of food insecurity and its associations with diet, cardiometabolic risk factors, and glycemic control among Latino individuals of Mexican ancestry.
View Article and Find Full Text PDFObjectives: Dilated cardiomyopathy (DCM) is often hereditary, with 20% to 40% of nonischemic cases showing familial linkage, yet genetic testing is underused. This report describes an unreported pathogenic nonsense variant in the Titin (TTN) gene (NM_001267550.2:c.
View Article and Find Full Text PDFSplenic biopsies for cytology remain challenging due to the inherent difficulty in obtaining adequate samples and the paucity of literature on rare entities arising in the spleen. Among these, are tumors arising from blood vessels, lymphomas and rarely, mesenchymal dendritic cell neoplasms. An important but rarely considered entity primarily arising in the spleen is Epstein-Barr virus-positive inflammatory follicular dendritic cell sarcoma (EBV+ IFDCS).
View Article and Find Full Text PDFPremise: Increasingly complete phylogenies underpin studies in systematics, ecology, and evolution. Myrteae (Myrtaceae), with ~2700 species, is a key component of the exceptionally diverse Neotropical flora, but given its complicated taxonomy, automated assembling of molecular supermatrices from public databases often lead to unreliable topologies due to poor species identification.
Methods: Here, we build a taxonomically verified molecular supermatrix of Neotropical Myrteae by assembling 3909 published and 1004 unpublished sequences from two nuclear and seven plastid molecular markers.
The melanopsin-expressing, intrinsically photosensitive retinal ganglion cells (ipRGCs) comprise a subset of the ∼40 retinal ganglion cell types in the mouse retina and drive a diverse array of light-evoked behaviors from circadian photoentrainment to pupil constriction to contrast sensitivity for visual perception. Central to the ability of ipRGCs to control this diverse array of behaviors is the distinct complement of morphophysiological features and gene expression patterns found in the M1-M6 ipRGC subtypes. However, the genetic regulatory programs that give rise to subtypes of ipRGCs are unknown.
View Article and Find Full Text PDFBackground: The COVID-19 pandemic caused societal disruption in the United States and most of the world, affecting many aspects of life, including healthcare and health-related behaviors such as diet, food security, and physical activity. Communities with economic and health disparities may have been particularly affected. This study was undertaken to determine how conditions in the early pandemic (January, 2021-February, 2022) affected Latino patients of Mexican Ancestry at high risk of type 2 diabetes mellitus who participated in El Banco por Salud biobank project in Tucson, Arizona.
View Article and Find Full Text PDFAn original kinetic model is proposed for the direct production of light olefins by hydrogenation of CO/CO (CO) mixtures over an InO-ZrO/SAPO-34 tandem catalyst, quantifying deactivation by coke. The reaction network comprises 12 individual reactions, and deactivation is quantified with expressions dependent on the concentration of methanol (as coke precursor) and HO and H (as agents attenuating coke formation). The experimental results were obtained in a fixed-bed reactor under the following conditions: InO-ZrO/SAPO-34 mass ratio, 0/1-1/0; 350-425 °C; 20-50 bar; H/CO ratio, 1-3; CO/CO ratio, 0-1; space time, 0-10 g h mol, 0-20 g h mol; time, up to 500 h; HO and CHOH in the feed, up to 5% vol.
View Article and Find Full Text PDFIntroduction: There are limited data on the outcome of acute ischemic stroke oldest old women. We assessed clinical risk factors for in-hospital mortality in women aged 85 years or more with acute ischemic stroke.
Methods: This single-center retrospective cohort study included 506 women aged ≥ 85 years collected from a total of 4,600 patients with acute cerebral infarction registered in an ongoing 24-year hospital stroke database.
Dynamic regulation of gene expression plays a key role in establishing the diverse neuronal cell types in the brain. Recent findings in genome biology suggest that three-dimensional (3D) genome organization has important, but mechanistically poorly understood functions in gene transcription. Beyond local genomic interactions between promoters and enhancers, we find that cerebellar granule neurons undergoing differentiation in vivo exhibit striking increases in long-distance genomic interactions between transcriptionally active genomic loci, which are separated by tens of megabases within a chromosome or located on different chromosomes.
View Article and Find Full Text PDFBackground: Immunohistochemistry-based protein biomarkers can provide useful prognostic information in cutaneous melanoma. The independent prognostic value of Ki-67 has been studied with variable results. PReferentially expressed Antigen in MElanoma (PRAME) immunohistochemistry is a useful new ancillary tool for distinguishing cutaneous nevi from melanoma; however, its prognostic value has not been well studied.
View Article and Find Full Text PDFHealth literacy (HL) is associated with short- and long-term health outcomes, and this is particularly relevant in Hispanics, who are disproportionally affected by lower HL. Hispanics have become the largest minority population in the United States. Also, Hispanics experience higher burdens of chronic diseases such as type 2 diabetes mellitus (T2DM) than non-Hispanic whites.
View Article and Find Full Text PDFPremise: To date, phylogenetic relationships within the monogeneric Brunelliaceae have been based on morphological evidence, which does not provide sufficient phylogenetic resolution. Here we use target-enriched nuclear data to improve our understanding of phylogenetic relationships in the family.
Methods: We used the Angiosperms353 toolkit for targeted recovery of exonic regions and supercontigs (exons + introns) from low copy nuclear genes from 53 of 70 species in Brunellia, and several outgroup taxa.
Background: Poromas, and their malignant counterparts, porocarcinomas, harbor recurrent translocations involving YAP1-MAML2, YAP1-NUTM1, and infrequently WWTR1-NUTM1; YAP1-NUTM1 being the most common in porocarcinomas. NUT immunohistochemistry (IHC) can be used to identify NUTM1-translocated tumors. This study sought to investigate potential novel NUTM1-fusion partners among NUT IHC-positive poromas and porocarcinomas.
View Article and Find Full Text PDFAdherence to dietary and physical activity recommendations has been associated with reductions in morbidity and mortality. The association between baseline adherence to fruit, vegetable, and physical activity guidelines and metabolic syndrome (MetS) in El Banco por Salud (El Banco) was examined. El Banco is a wellness biobank for Latino individuals affiliated with partnered Federally Qualified Health Centers in southern Arizona.
View Article and Find Full Text PDFUnderserved Latino communities experience a greater burden of type 2 diabetes mellitus (T2DM) than the general population. Predictors of glycemic control are likely to include both biological/genetic and social determinants of health (SDOH). A variety of approaches have been used with cohorts of Latino patients to study aspects of this health disparity, and those are reviewed briefly here.
View Article and Find Full Text PDFBackground: Subungual melanoma can be diagnostically challenging. We evaluated the potential of PReferentially expressed Antigen for MElanoma (PRAME) immunoreactivity for differentiating benign from malignant nail melanocytic lesions.
Methods: Sixty cases were identified (10 invasive melanomas, 8 melanomas in situ, 14 nevi, 12 cases of lentigo, and 16 of melanocytic activation).
"Cutaneous melanocytic tumor with fusion" (CMTCT) is a recently described entity belonging to the family of superficial tumors displaying melanocytic differentiation. Thirteen cases have been reported so far, on the head and neck, extremities, and trunk of adults of all ages (12 cases) and one in an 11-year-old child. Histopathologically, it is a nodular or multilobulated tumor composed of spindle and epithelioid cells arranged in nests, fascicles, or bundles that are surrounded by thin collagenous septa.
View Article and Find Full Text PDFPrimary cutaneous Ewing sarcoma (EWS) is a very rare neoplasm that shares similar morphologic, immunohistochemical, and molecular features with its osseous counterpart. Herein, we present an extraordinarily rare case of PAX7-positive cutaneous EWS in a 9-year-old girl that was also diffusely positive for SOX10 and S100-protein. Next generation sequencing detected the EWSR1-FLI1 fusion supporting the diagnosis, which was further validated by break-apart EWSR1 fluorescence in situ hybridization.
View Article and Find Full Text PDFBackground: We and others have noticed consistent staining of sebaceous glands with PReferentially expressed Antigen in MElanoma (PRAME). We aimed to determine whether PRAME was as sensitive, specific, and interpretable as adipophilin for distinguishing sebaceous neoplasms (SNs) from other neoplasms.
Methods: Twenty SNs and 32 control cases were stained for PRAME and adipophilin.
The most recent World Health Organization classification for skin tumors (2018) categorizes melanomas and their precursor lesions, benign or intermediate, into nine pathways based not only on their clinical and histomorphologic characteristics but also on their molecular profile and genetic fingerprint. In an index case of a partially sampled atypical spitzoid lesion, which proved to be an 11p-amplified Spitz nevus with HRASQ61R mutation, we observed cross-reactivity with the NRASQ61R antibody (clone SP174). Overall, we assessed the status of HRAS and NRAS genes and their immunoreaction to NRASQ61R antibody in 16 cases of 11p-amplified Spitz nevi/atypical Spitz tumors.
View Article and Find Full Text PDFJ Geriatr Cardiol
January 2021
Patent foram ovale (PFO) is the most common anatomical cause of an interarterial shunt. It is usually asymptomatic but may cause paradoxical embolism and is a risk factor for non-lacunar cryptogenic cerebral ischemia in young adults. Although the first clinical trials did not show a significant superiority of PFO closure in the secondary prevention of cerebral ischemia as compared with standard antithrombotic treatment, six subsequent randomized clinical trials (CLOSURE I, PC Trial, RESPECT, CLOSE, REDUCE, and DEFENSE-PFO) performed in a sample of cryptogenic stroke in patients aged 60 years or younger provided evidence of a significant reduction of recurrent cerebral ischemia after percutaneous PFO closure.
View Article and Find Full Text PDFEosinophilic hyaline inclusions (EHIs) or globules have been reported in various cutaneous tumors including vascular lesions, myoepithelial neoplasms, and basal cell carcinoma. In basal cell carcinoma, the presence of intracytoplasmic inclusions is reportedly associated with myoepithelial differentiation. In this regard, EHI has not been conclusively documented in a cutaneous lesion of genuine squamous cell lineage without aberrant differentiation.
View Article and Find Full Text PDF"Cutaneous melanocytic tumor with CRTC1-TRIM11 fusion" (CMTCT) is a newly described, potentially novel entity that typically presents as a dermal nodule on the head and neck, extremities, and trunk of adults. Histopathologically, it is reported as a nodular or multinodular tumor composed of epithelioid and spindle cells that are variably immunoreactive for S100-protein, SOX10, and MITF along with more specific melanocytic markers such as MelanA and HMB45. With only 11 cases reported in the English literature so far, the neoplasm appears to behave in a relatively indolent fashion.
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