Jizz and the joy of pattern recognition:virtuosity, discipline and the agency of insight in UK naturalists’ arts of seeing

Approaches to visual skilling from anthropology and STS have tended to highlight the forces of discipline and control in understanding how shared visual accounts of the world are created in the face of potential differences brought about by multi-sensorial perception. Drawing upon a range of observational and interview material from an immersion in naturalist training and biological recording activities between 2003 and 2009, I focus upon jizz, a distinct form of gestalt perception much coveted by naturalist communities in the UK. Jizz is described as a tacit and embodied way of seeing that instantaneously reveals the identity of a species, relying upon but simultaneously suspending the arduous and meticulous study of an organism’s diagnostic characteristics. I explore the potential and limitations of jizz to allow for both visual precision and an enchanted and varied form of encounter with nature. In so doing, I explore how the specific characteristics of wild, intangible and irreverent virtuoso performance work closely together with disciplining taxonomic standards. As such, discipline and irreverence work together, are mutually enabling, and allow for an accommodation rather than a segregation of potential difference brought about by perceptual variety

Validation of Two Portable Instruments to Measure Iron Concentration in Groundwater in Rural Bangladesh

Iron is ubiquitous in natural water sources used around the world for drinking and cooking. The health impact of chronic exposure to iron through water, which in groundwater sources can reach well above the World Health Organization's defined aesthetic limit of 0.3 mg/L, is not currently understood. To quantify the impact of consumption of iron in groundwater on nutritional status, it is important to accurately assess naturally-occurring exposure levels among populations. In this study, the validity of iron quantification in water was evaluated using two portable instruments: the HACH DR/890 portable colorimeter (colorimeter) and HACH Iron test-kit, Model IR-18B (test-kit), by comparing field-based iron estimates for 25 tubewells located in northwestern Bangladesh with gold standard atomic absorption spectrophotometry analysis. Results of the study suggest that the HACH test-kit delivers more accurate point-of-use results across a wide range of iron concentrations under challenging field conditions

Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5

Meningiomas are a diverse group of tumors with a broad spectrum of histologic features. There are over 12 variants of meningioma, whose genetic features are just beginning to be described. Angiomatous meningioma is a World Health Organization (WHO) meningioma variant with a predominance of blood vessels. They are uncommon and confirming the histopathologic classification can be challenging. Given a lack of biomarkers that define the angiomatous subtype and limited understanding of the genetic changes underlying its tumorigenesis, we compared the genomic characteristics of angiomatous meningioma to more common meningioma subtypes. While typical grade I meningiomas demonstrate monosomy of chromosome 22 or lack copy number aberrations, 13 of 14 cases of angiomatous meningioma demonstrated a distinct copy number profile – polysomies of at least one chromosome, but often of many, especially in chromosomes 5, 13, and 20. WHO grade II atypical meningiomas with angiomatous features have both polysomies and genetic aberrations characteristic of other atypical meningiomas. Sequencing of over 560 cancer-relevant genes in 16 cases of angiomatous meningioma showed that these tumors lack common mutations found in other variants of meningioma. Our study demonstrates that angiomatous meningiomas have distinct genomic features that may be clinically useful for their diagnosis

MusMorph, a database of standardized mouse morphology data for morphometric meta-analyses.

Complex morphological traits are the product of many genes with transient or lasting developmental effects that interact in anatomical context. Mouse models are a key resource for disentangling such effects, because they offer myriad tools for manipulating the genome in a controlled environment. Unfortunately, phenotypic data are often obtained using laboratory-specific protocols, resulting in self-contained datasets that are difficult to relate to one another for larger scale analyses. To enable meta-analyses of morphological variation, particularly in the craniofacial complex and brain, we created MusMorph, a database of standardized mouse morphology data spanning numerous genotypes and developmental stages, including E10.5, E11.5, E14.5, E15.5, E18.5, and adulthood. To standardize data collection, we implemented an atlas-based phenotyping pipeline that combines techniques from image registration, deep learning, and morphometrics. Alongside stage-specific atlases, we provide aligned micro-computed tomography images, dense anatomical landmarks, and segmentations (if available) for each specimen (N = 10,056). Our workflow is open-source to encourage transparency and reproducible data collection. The MusMorph data and scripts are available on FaceBase ( www.facebase.org , https://doi.org/10.25550/3-HXMC ) and GitHub ( https://github.com/jaydevine/MusMorph )

Countries with delayed COVID-19 introduction - characteristics, drivers, gaps, and opportunities.

BACKGROUND: Three months after the first reported cases, COVID-19 had spread to nearly 90% of World Health Organization (WHO) member states and only 24 countries had not reported cases as of 30 March 2020. This analysis aimed to 1) assess characteristics, capability to detect and monitor COVID-19, and disease control measures in these 24 countries, 2) understand potential factors for the reported delayed COVID-19 introduction, and 3) identify gaps and opportunities for outbreak preparedness, particularly in low and middle-income countries (LMICs). We collected and analyzed publicly available information on country characteristics, COVID-19 testing, influenza surveillance, border measures, and preparedness activities in these countries. We also assessed the association between the temporal spread of COVID-19 in all countries with reported cases with globalization indicator and geographic location. RESULTS: Temporal spreading of COVID-19 was strongly associated with countries' globalization indicator and geographic location. Most of the 24 countries with delayed COVID-19 introduction were LMICs; 88% were small island or landlocked developing countries. As of 30 March 2020, only 38% of these countries reported in-country COVID-19 testing capability, and 71% reported conducting influenza surveillance during the past year. All had implemented two or more border measures, (e.g., travel restrictions and border closures) and multiple preparedness activities (e.g., national preparedness plans and school closing). CONCLUSIONS: Limited testing capacity suggests that most of the 24 delayed countries may have lacked the capability to detect and identify cases early through sentinel and case-based surveillance. Low global connectedness, geographic isolation, and border measures were common among these countries and may have contributed to the delayed introduction of COVID-19 into these countries. This paper contributes to identifying opportunities for pandemic preparedness, such as increasing disease detection, surveillance, and international collaborations. As the global situation continues to evolve, it is essential for countries to improve and prioritize their capacities to rapidly prevent, detect, and respond, not only for COVID-19, but also for future outbreaks

The Role of Genetic Variation Near Interferon-Kappa in Systemic Lupus Erythematosus

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by increased type I interferons (IFNs) and multiorgan inflammation frequently targeting the skin. IFN-kappa is a type I IFN expressed in skin. A pooled genome-wide scan implicated the IFNK locus in SLE susceptibility. We studied IFNK single nucleotide polymorphisms (SNPs) in 3982 SLE cases and 4275 controls, composed of European (EA), African-American (AA), and Asian ancestry. rs12553951C was associated with SLE in EA males (odds ratio = 1.93, P = 2.5 × 10−4), but not females. Suggestive associations with skin phenotypes in EA and AA females were found, and these were also sex-specific. IFNK SNPs were associated with increased serum type I IFN in EA and AA SLE patients. Our data suggest a sex-dependent association between IFNK SNPs and SLE and skin phenotypes. The serum IFN association suggests that IFNK variants could influence type I IFN producing plasmacytoid dendritic cells in affected skin

ABIN1 dysfunction as a genetic basis for lupus nephritis

The genetic factors underlying the pathogenesis of lupus nephritis associated with systemic lupus erythematosus are largely unknown, although animal studies indicate that nuclear factor (NF)-?B is involved. We reported previously that aknockin mouse expressinganin active form of ABIN1 (ABIN1[D485N]) develops lupus-like autoimmune disease and demonstrates enhanced activation of NF-?B and mitogen-activated protein kinases in immune cells after toll-like receptor stimulation. In the current study, we show that ABIN1[D485N] mice develop progressive GN similar to class III and IV lupus nephritis in humans. To investigate the clinical relevance of ABIN1 dysfunction, we genotyped five single-nucleotide polymorphisms in the gene encoding ABIN1, TNIP1, in samples from European-American, African American, Asian, Gullah, and Hispanic participants in the Large Lupus Association Study 2. Comparing cases of systemic lupus erythematosus with nephritis and cases ofsystemic lupus erythematosus without nephritis revealed strong associations with lupus nephritis at rs7708392 in European Americans and rs4958881 in African Americans. Comparing cases of systemic lupus erythematosus with nephritis and healthy controls revealed a stronger association at rs7708392 in European Americans but not at rs4958881 in African Americans. Our data suggest that variants in the TNIP1 gene are associated with the risk for lupus nephritis and could be mechanistically involved in disease development via aberrant regulation of NF-?B and mitogen-activated protein kinase activity. Copyright © 2013 by the American Society of Nephrology

Palmitoylation Regulates Epidermal Homeostasis and Hair Follicle Differentiation

Palmitoylation is a key post-translational modification mediated by a family of DHHC-containing palmitoyl acyl-transferases (PATs). Unlike other lipid modifications, palmitoylation is reversible and thus often regulates dynamic protein interactions. We find that the mouse hair loss mutant, depilated, (dep) is due to a single amino acid deletion in the PAT, Zdhhc21, resulting in protein mislocalization and loss of palmitoylation activity. We examined expression of Zdhhc21 protein in skin and find it restricted to specific hair lineages. Loss of Zdhhc21 function results in delayed hair shaft differentiation, at the site of expression of the gene, but also leads to hyperplasia of the interfollicular epidermis (IFE) and sebaceous glands, distant from the expression site. The specific delay in follicle differentiation is associated with attenuated anagen propagation and is reflected by decreased levels of Lef1, nuclear β-catenin, and Foxn1 in hair shaft progenitors. In the thickened basal compartment of mutant IFE, phospho-ERK and cell proliferation are increased, suggesting increased signaling through EGFR or integrin-related receptors, with a parallel reduction in expression of the key differentiation factor Gata3. We show that the Src-family kinase, Fyn, involved in keratinocyte differentiation, is a direct palmitoylation target of Zdhhc21 and is mislocalized in mutant follicles. This study is the first to demonstrate a key role for palmitoylation in regulating developmental signals in mammalian tissue homeostasis

The future of medical diagnostics: Review paper

While histopathology of excised tissue remains the gold standard for diagnosis, several new, non-invasive diagnostic techniques are being developed. They rely on physical and biochemical changes that precede and mirror malignant change within tissue. The basic principle involves simple optical techniques of tissue interrogation. Their accuracy, expressed as sensitivity and specificity, are reported in a number of studies suggests that they have a potential for cost effective, real-time, in situ diagnosis. We review the Third Scientific Meeting of the Head and Neck Optical Diagnostics Society held in Congress Innsbruck, Innsbruck, Austria on the 11th May 2011. For the first time the HNODS Annual Scientific Meeting was held in association with the International Photodynamic Association (IPA) and the European Platform for Photodynamic Medicine (EPPM). The aim was to enhance the interdisciplinary aspects of optical diagnostics and other photodynamic applications. The meeting included 2 sections: oral communication sessions running in parallel to the IPA programme and poster presentation sessions combined with the IPA and EPPM posters sessions. © 2011 Jerjes et al; licensee BioMed Central Ltd