Huntington Disease (HD) is an inherited movement disorder caused by expanded CAG repeats in the Huntingtin gene. We have used single nucleus RNASeq (snRNASeq) to uncover cellular phenotypes that change in the disease, investigating single cell gene expression in cingulate cortex of patients with HD and comparing the gene expression to that of patients with no neurological disease. In this study, we focused on astrocytes, although we found significant gene expression differences in neurons, oligodendrocytes, and microglia as well. In particular, the gene expression profiles of astrocytes in HD showed multiple signatures, varying in phenotype from cells that had markedly upregulated metallothionein and heat shock genes, but had not completely lost the expression of genes associated with normal protoplasmic astrocytes, to astrocytes that had substantially upregulated glial fibrillary acidic protein (GFAP) and had lost expression of many normal protoplasmic astrocyte genes as well as metallothionein genes. When compared to astrocytes in control samples, astrocyte signatures in HD also showed downregulated expression of a number of genes, including several associated with protoplasmic astrocyte function and lipid synthesis. Thus, HD astrocytes appeared in variable transcriptional phenotypes, and could be divided into several different "states", defined by patterns of gene expression. Ultimately, this study begins to fill the knowledge gap of single cell gene expression in HD and provide a more detailed understanding of the variation in changes in gene expression during astrocyte "reactions" to the disease.

Huntington Disease (HD) is an inherited movement disorder caused by expanded CAG repeats in the Huntingtin gene. We have used single nucleus RNASeq (snRNASeq) to uncover cellular phenotypes that change in the disease, investigating single cell gene expression in cingulate cortex of patients with HD and comparing the gene expression to that of patients with no neurological disease. In this study, we focused on astrocytes, although we found significant gene expression differences in neurons, oligodendrocytes, and microglia as well. In particular, the gene expression profiles of astrocytes in HD showed multiple signatures, varying in phenotype from cells that had markedly upregulated metallothionein and heat shock genes, but had not completely lost the expression of genes associated with normal protoplasmic astrocytes, to astrocytes that had substantially upregulated GFAP and had lost expression of many normal protoplasmic astrocyte genes as well as metallothionein genes. When compared to astrocytes in control samples, astrocyte signatures in HD also showed downregulated expression of a number of genes, including several associated with protoplasmic astrocyte function and lipid synthesis. Thus, HD astrocytes appeared in variable transcriptional phenotypes, and could be divided into several different “states”, defined by patterns of gene expression. Ultimately, this study begins to fill the knowledge gap of single cell gene expression in HD and provide a more detailed understanding of the variation in changes in gene expression during astrocyte “reactions” to the disease.

Introduction Hepatitis B vaccination among healthcare workers (HCWs) in Ghana has not been actively pursued despite the endemicity of the infection. This study measures the hepatitis B vaccine uptake among HCWs at the University of Ghana Hospital, Legon (UGHL) and identifies the factors associated with vaccination. Methods An analytical cross-sectional study involving all staff who have direct contact with patients was conducted. Self-administered questionnaires were used to collect data on vaccination status, age, sex, type of staff, duration of work in the facility, exposure to blood or blood products, blood stained linens/waste, sharp instruments and performance of invasive procedures. Data was analysed using STATA 14. Continuous variables were described using median values and interquartile ranges (IQR) and categorical variables as proportions. Bivariate and multivariate analysis were conducted to identify the factors associated with hepatitis B vaccination status. Results Of the 161 participants interviewed, 63.4% were females with median age 35 years (IQR: 27-45). Eighty-six (53.4%) of the respondents had taken the hepatitis B vaccine with 79.1% of them having completed the vaccination schedule. Factors associated with vaccination were working for more than 16 years (OR: 3.8, CI: 1.02-12.72), daily exposure to blood/blood products (OR: 4.1, CI: 1.43-11.81) and sharp instruments (OR: 4.45, CI: 1.39- 14.24), performing invasive procedures daily (OR: 3.0, CI: 1.07-8.45) and frequent exposure to blood stained linens/waste (OR: 6.1, CI: 1.41-26.51). Conclusion The lack of hepatitis B vaccination among some HCWs at UGHL puts them at risk of contracting hepatitis B infection.

Objectives Laboratory testing and the measurement of appropriate biomarkers play a critical role in managing patients with coronavirus disease 2019 (COVID-19), allowing for disease diagnosis, monitoring progression, prognostication, prediction of treatment response, and risk stratification. We sought to characterize these effects on a more detailed, mechanistic level. Methods We reviewed the literature and identified a multitude of reports that describe the unique effects of this virus and its devastating consequences to multiple organ systems in COVID-19 patients. Results There are specific alterations in biomarkers related to coagulation, depopulation of T-cell subtypes, the cytokine storm and inflammation, and kidney and cardiac dysfunction. Conclusions Laboratory measurement of specific parameters and the use of appropriate prognostic, predictive, and monitoring biomarkers afford clinicians the ability to make informed medical decisions and guide therapy for patients afflicted with this dreaded disease.

Benign metastasizing leiomyoma (BML) is a rare benign smooth muscle neoplasm that originates in the uterus and metastasizes to distant sites—most commonly the lungs. BMLs are often found incidentally in patients with a history of uterine leiomyoma(s) and tend to be indolent. Occasionally they may be symptomatic and rarely follow an aggressive clinical course. We report an unusual case of BML presenting in a 46-year-old woman as a miliary nodular pattern bilaterally in the lungs and progressive respiratory failure. Her past medical history was significant for uterine “leiomyomas” of at least 9 years' duration. Post mortem histologic evaluation of the uterine and lung lesions revealed benign smooth muscle neoplasms (leiomyomas and BMLs, respectively), and molecular analyses demonstrated identical clonal MED12 mutation, though with greater mutant allelic frequency in the uterus. We document a rare aggressive clinical course in a patient with BML, which presented as a miliary radiologic pattern mimicking an infectious etiology or interstitial lung disease.