Gamma-Delta (gammadelta) (γδ) T-cell Lymphoma - Another Case Unclassifiable by World Health Organization Classification: a Case Report

BACKGROUND: We present a case of gamma-delta T-cell lymphoma that does not fit the current World Health Organization classifications. CASE PRESENTATION: A 74-year-old Caribbean-American woman presented with lymphocytosis, pruritus, and non-drenching night sweats. Bone marrow and peripheral blood analyses both confirmed the diagnosis of gamma-delta T-cell lymphoma. An axillary lymph node biopsy was negative for lymphoma. Clinically absent hepatosplenomegaly and skin lesions with biopsy-proven gamma-delta T-cell lymphoma suggest that she is unclassifiable within the current classification system. CONCLUSIONS: We believe this is a case of not otherwise specified gamma-delta T-cell lymphoma. Accumulation of these rare not otherwise specified cases will be important for future classification which further defines the biology of this disease

Genetic determinants of hair and eye colours in the Scottish and Danish populations

<p>Abstract</p> <p>Background</p> <p>Eye and hair colour is highly variable in the European population, and is largely genetically determined. Both linkage and association studies have previously been used to identify candidate genes underlying this variation. Many of the genes found were previously known as underlying mutant mouse phenotypes or human genetic disease, but others, previously unsuspected as pigmentation genes, have also been discovered.</p> <p>Results</p> <p>We assayed the hair of a population of individuals of Scottish origin using tristimulus colorimetry, in order to produce a quantitative measure of hair colour. Cluster analysis of this data defined two groups, with overlapping borders, which corresponded to visually assessed dark versus red/light hair colour. The Danish population was assigned into categorical hair colour groups. Both cohorts were also assessed for eye colour. DNA from the Scottish group was genotyped at SNPs in 33 candidate genes, using 384 SNPs identified by HapMap as representatives of each gene. Associations found between SNPs and colorimetric hair data and eye colour categories were replicated in a cohort of the Danish population. The Danish population was also genotyped with SNPs in 4 previously described pigmentation genes. We found replicable associations of hair colour with the <it>KITLG </it>and <it>OCA2 </it>genes. <it>MC1R </it>variation correlated, as expected, with the red dimension of colorimetric hair colour in Scots. The Danish analysis excluded those with red hair, and no associations were found with <it>MC1R </it>in this group, emphasising that <it>MC1R </it>regulates the colour rather than the intensity of pigmentation. A previously unreported association with the <it>HPS3 </it>gene was seen in the Scottish population. However, although this replicated in the smaller cohort of the Danish population, no association was seen when the whole study population was analysed.</p> <p>Conclusions</p> <p>We have found novel associations with SNPs in known pigmentation genes and colorimetrically assessed hair colour in a Scottish and a Danish population.</p

Anomalous Optoelectronic Properties of Chiral Carbon Nanorings...and One Ring to Rule Them All

Carbon nanorings are hoop-shaped, {\pi}-conjugated macrocycles which form the fundamental annular segments of single-walled carbon nanotubes (SWNTs). In a very recent report, the structures of chiral carbon nanorings (which may serve as chemical templates for synthesizing chiral nanotubes) were experimentally synthesized and characterized for the first time. Here, in our communication, we show that the excited-state properties of these unique chiral nanorings exhibit anomalous and extremely interesting optoelectronic properties, with excitation energies growing larger as a function of size (in contradiction with typical quantum confinement effects). While the first electronic excitation in armchair nanorings is forbidden with a weak oscillator strength, we find that the same excitation in chiral nanorings is allowed due to a strong geometric symmetry breaking. Most importantly, among all the possible nanorings synthesized in this fashion, we show that only one ring, corresponding to a SWNT with chiral indices (n+3,n+1), is extremely special with large photoinduced transitions that are most readily observable in spectroscopic experiments.Comment: Accepted by the Journal of Physical Chemistry Letter

Advanced magnetic resonance imaging of cartilage components in haemophilic joints reveals that cartilage hemosiderin correlates with joint deterioration.

IntroductionEvidence suggests that toxic iron is involved in haemophilic joint destruction.AimTo determine whether joint iron deposition is linked to clinical and imaging outcomes in order to optimize management of haemophilic joint disease.MethodsAdults with haemophilia A or haemophilia B (n = 23, ≥ age 21) of all severities were recruited prospectively to undergo assessment with Hemophilia Joint Health Scores (HJHS), pain scores (visual analogue scale [VAS]) and magnetic resonance imaging (MRI) at 3T using conventional MRI protocols and 4-echo 3D-UTE-Cones sequences for one affected arthropathic joint. MRI was scored blinded by two musculoskeletal radiologists using the International Prophylaxis Study Group (IPSG) MRI scale. Additionally, UTE-T2* values of cartilage were quantified. Correlations between parameters were performed using Spearman rank correlation. Two patients subsequently underwent knee arthroplasty, which permitted linking of histological findings (including Perl's reaction) with MRI results.ResultsMRI scores did not correlate with pain scores or HJHS. Sixteen joints had sufficient cartilage for UTE-T2* analysis. T2* values for cartilage correlated inversely with HJHS (rs  = -0.81, P &lt; 0.001) and MRI scores (rs  = -0.52, P = 0.037). This was unexpected since UTE-T2* values decrease with better joint status in patients with osteoarthritis, suggesting that iron was present and responsible for the effects. Histological analysis of cartilage confirmed iron deposition within chondrocytes, associated with low UTE-T2* values.ConclusionsIron accumulation can occur in cartilage (not only in synovium) and shows a clear association with joint health. Cartilage iron is a novel biomarker which, if quantifiable with innovative joint-specific MRI T2* sequences, may guide treatment optimization

Four Levels of Hierarchical Organization, Including Noncovalent Chainmail, Brace the Mature Tumor Herpesvirus Capsid against Pressurization

SummaryLike many double-stranded DNA viruses, tumor gammaherpesviruses Epstein-Barr virus and Kaposi’s sarcoma-associated herpesvirus withstand high internal pressure. Bacteriophage HK97 uses covalent chainmail for this purpose, but how this is achieved noncovalently in the much larger gammaherpesvirus capsid is unknown. Our cryoelectron microscopy structure of a gammaherpesvirus capsid reveals a hierarchy of four levels of organization: (1) Within a hexon capsomer, each monomer of the major capsid protein (MCP), 1,378 amino acids and six domains, interacts with its neighboring MCPs at four sites. (2) Neighboring capsomers are linked in pairs by MCP dimerization domains and in groups of three by heterotrimeric triplex proteins. (3) Small (∼280 amino acids) HK97-like domains in MCP monomers alternate with triplex heterotrimers to form a belt that encircles each capsomer. (4) One hundred sixty-two belts concatenate to form noncovalent chainmail. The triplex heterotrimer orchestrates all four levels and likely drives maturation to an angular capsid that can withstand pressurization

Natural Language Interfaces for Tabular Data Querying and Visualization: A Survey

The emergence of natural language processing has revolutionized the way users interact with tabular data, enabling a shift from traditional query languages and manual plotting to more intuitive, language-based interfaces. The rise of large language models (LLMs) such as ChatGPT and its successors has further advanced this field, opening new avenues for natural language processing techniques. This survey presents a comprehensive overview of natural language interfaces for tabular data querying and visualization, which allow users to interact with data using natural language queries. We introduce the fundamental concepts and techniques underlying these interfaces with a particular emphasis on semantic parsing, the key technology facilitating the translation from natural language to SQL queries or data visualization commands. We then delve into the recent advancements in Text-to-SQL and Text-to-Vis problems from the perspectives of datasets, methodologies, metrics, and system designs. This includes a deep dive into the influence of LLMs, highlighting their strengths, limitations, and potential for future improvements. Through this survey, we aim to provide a roadmap for researchers and practitioners interested in developing and applying natural language interfaces for data interaction in the era of large language models.Comment: 20 pages, 4 figures, 5 tables. Submitted to IEEE TKD