182 research outputs found
Enlarging neck masses in the elderly – Histological and surgical considerations
AbstractINTRODUCTIONAnaplastic carcinoma of the thyroid is a rare but aggressive malignancy which can present with a rapidly enlarging neck mass or compressive sequelae of cough, dyspnoea, dysphagia and hoarseness. Treatment of such tumours is commonly palliative however they occasionally represent surgical challenges due to their rapid growth, diagnostic difficulty and locoregional spread.PRESENTATION OF CASEA 75 year-old retired veterinary surgeon was referred with a 2 month history of a painless, enlarging neck mass. The patient denied any secondary compressive symptoms or general symptoms of malignancy. On examination a large right-sided neck mass measuring 7cm×5cm was appreciated which was fixed, hard and irregular with associated adenopathy.DISCUSSIONWe discuss the diagnostic challenges posed by anaplastic carcinoma of the thyroid and the difficulties in selecting the appropriate intervention in this aggressive disease process.CONCLUSIONAnaplastic carcinoma of the thyroid is encountered infrequently in clinical practice and can generate diagnostic and therapeutic challenges
The Five Factor Model of personality and evaluation of drug consumption risk
The problem of evaluating an individual's risk of drug consumption and misuse
is highly important. An online survey methodology was employed to collect data
including Big Five personality traits (NEO-FFI-R), impulsivity (BIS-11),
sensation seeking (ImpSS), and demographic information. The data set contained
information on the consumption of 18 central nervous system psychoactive drugs.
Correlation analysis demonstrated the existence of groups of drugs with
strongly correlated consumption patterns. Three correlation pleiades were
identified, named by the central drug in the pleiade: ecstasy, heroin, and
benzodiazepines pleiades. An exhaustive search was performed to select the most
effective subset of input features and data mining methods to classify users
and non-users for each drug and pleiad. A number of classification methods were
employed (decision tree, random forest, -nearest neighbors, linear
discriminant analysis, Gaussian mixture, probability density function
estimation, logistic regression and na{\"i}ve Bayes) and the most effective
classifier was selected for each drug. The quality of classification was
surprisingly high with sensitivity and specificity (evaluated by leave-one-out
cross-validation) being greater than 70\% for almost all classification tasks.
The best results with sensitivity and specificity being greater than 75\% were
achieved for cannabis, crack, ecstasy, legal highs, LSD, and volatile substance
abuse (VSA).Comment: Significantly extended report with 67 pages, 27 tables, 21 figure
The Mathematical Universe
I explore physics implications of the External Reality Hypothesis (ERH) that
there exists an external physical reality completely independent of us humans.
I argue that with a sufficiently broad definition of mathematics, it implies
the Mathematical Universe Hypothesis (MUH) that our physical world is an
abstract mathematical structure. I discuss various implications of the ERH and
MUH, ranging from standard physics topics like symmetries, irreducible
representations, units, free parameters, randomness and initial conditions to
broader issues like consciousness, parallel universes and Godel incompleteness.
I hypothesize that only computable and decidable (in Godel's sense) structures
exist, which alleviates the cosmological measure problem and help explain why
our physical laws appear so simple. I also comment on the intimate relation
between mathematical structures, computations, simulations and physical
systems.Comment: Replaced to match accepted Found. Phys. version, 31 pages, 5 figs;
more details at http://space.mit.edu/home/tegmark/toe.htm
Towards a quantum universe
In this short review we study the state of the art of the great problems in
cosmology and their interrelationships. The reconciliation of these problems
passes undoubtedly through the idea of a quantum universe.Comment: 7 pages, Accepted for publication in Astrophysics & Space Scienc
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/ ), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation. RESULTS: Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 × 10(-9)), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 × 10(-5)), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 × 10(-4)) identified in the general populations, and rs113824616 (P = 7 × 10(-5)) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05. CONCLUSION: This study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk.UK funding includes Cancer Research UK and NIH.This is the final version of the article. It first appeared from BioMed Central via http://dx.doi.org/10.1186/s13058-016-0718-
- …