Paternal Genetic History of the Basque Population of Spain

This study examines the genetic variation in Basque Y chromosome lineages using data on 12 Y-short tandem repeat (STR) loci in a sample of 158 males from four Basque provinces of Spain (Alava, Vizcaya, Guipuzcoa, and Navarre). As reported in previous studies, the Basques are characterized by high frequencies of haplogroup R1b (83%). AMOVA analysis demonstrates genetic homogeneity, with a small but significant amount of genetic structure between provinces (Y-short tandem repeat loci STRs: 1.71%, p 0.0369). Gene and haplotype diversity levels in the Basque population are on the low end of the European distribution (gene diversity: 0.4268; haplotype diversity: 0.9421). Post-Neolithic contribution to the paternal Basque gene pool was estimated by measuring the proportion of those haplogroups with a Time to Most Recent Common Ancestor (TMRCA) previously dated either prior (R1b, I2a2) or subsequent to (E1b1b, G2a, J2a) the Neolithic. Based on these estimates, the Basque provinces show varying degrees of post-Neolithic contribution in the paternal lineages (10.9% in the combined sample)

Autosomal short tandem repeat genetic variation of the Basques in Spain

Aim To examine population genetic structure and hypotheses of the origin of the modern Basque population in Spain using autosomal short tandem repeat (STR) data from individuals living in 27 mountain villages in the provinces of Alava, Vizcaya, Guipuzcoa, and Navarre, by comparing Basque autosomal STR variation with that of neighboring populations in Europe, as well as proposed ancestral populations in North Africa and the Caucasus. Methods Allele frequencies for 9 autosomal STR loci (D3S1358, D5S818, D7S820, D8S1179, D13S317, D18S51, D21S11, FGA, and vWA) and several population genetic parameters were determined for the 4 provinces in the Basque region of Spain (n = 377). Heterozygosity within the Basque population was measured using a locus-by-locus analysis of molecular variance. Relationships between the Basques and other populations were examined using a multidimensional scaling (MDS) plot of Shriver’s DSW distance matrix. Results Heterozygosity levels in the Basque provinces were on the low end of the European distribution (0.805-0.812). The MDS plot of genetic distances revealed that the Basques differed from both the Caucasian and North African populations with respect to autosomal STR variation. Conclusions Autosomal STR analysis does not support the hypotheses of a recent common ancestor between the Basques and populations either from the Caucasus or North Africa.Funding This work is supported in part by National Geographic Society Grant (Project 6935-00) to the University of Kansas Laboratory of Biological Anthropology

In situ three-dimensional reconstruction of mouse heart sympathetic innervation by two-photon excitation fluorescence imaging

Background Sympathetic nerve wiring in the mammalian heart has remained largely unexplored. Resolving the wiring diagram of the cardiac sympathetic network would help establish the structural underpinnings of neurocardiac coupling. New Method We used two-photon excitation fluorescence microscopy, combined with a computer-assisted 3-D tracking algorithm, to map the local sympathetic circuits in living hearts from adult transgenic mice expressing enhanced green fluorescent protein (EGFP) in peripheral adrenergic neurons. Results Quantitative co-localization analyses confirmed that the intramyocardial EGFP distribution recapitulated the anatomy of the sympathetic arbor. In the left ventricular subepicardium of the uninjured heart, the sympathetic network was composed of multiple subarbors, exhibiting variable branching and looping topology. Axonal branches did not overlap with each other within their respective parental subarbor nor with neurites of annexed subarbors. The sympathetic network in the border zone of a 2-week-old myocardial infarction was characterized by substantive rewiring, which included spatially heterogeneous loss and gain of sympathetic fibers and formation of multiple, predominately nested, axon loops of widely variable circumference and geometry. Comparison with Existing Methods In contrast to mechanical tissue sectioning methods that may involve deformation of tissue and uncertainty in registration across sections, our approach preserves continuity of structure, which allows tracing of neurites over distances, and thus enables derivation of the three-dimensional and topological morphology of cardiac sympathetic nerves. Conclusions Our assay should be of general utility to unravel the mechanisms governing sympathetic axon spacing during development and disease

A UV to Mid-IR Study of AGN Selection

We classify the spectral energy distributions (SEDs) of 431,038 sources in the 9 sq. deg Bootes field of the NOAO Deep Wide-Field Survey (NDWFS). There are up to 17 bands of data available per source, including ultraviolet (GALEX), optical (NDWFS), near-IR (NEWFIRM), and mid-infrared (IRAC/MIPS) data, as well as spectroscopic redshifts for ~20,000 objects, primarily from the AGN and Galaxy Evolution Survey (AGES). We fit galaxy, AGN, stellar, and brown dwarf templates to the observed SEDs, which yield spectral classes for the Galactic sources and photometric redshifts and galaxy/AGN luminosities for the extragalactic sources. The photometric redshift precision of the galaxy and AGN samples are sigma/(1+z)=0.040 and sigma/(1+z)=0.169, respectively, with the worst 5% outliers excluded. Based on the reduced chi-squared of the SED fit for each SED model, we are able to distinguish between Galactic and extragalactic sources for sources brighter than I=23.5. We compare the SED fits for a galaxy-only model and a galaxy+AGN model. Using known X-ray and spectroscopic AGN samples, we confirm that SED fitting can be successfully used as a method to identify large populations of AGN, including spatially resolved AGN with significant contributions from the host galaxy and objects with the emission line ratios of "composite" spectra. We also use our results to compare to the X-ray, mid-IR, optical color and emission line ratio selection techniques. For an F-ratio threshold of F>10 we find 16,266 AGN candidates brighter than I=23.5 and a surface density of ~1900 AGN per deg^2.Comment: Submitted to ApJ, 35 pages, 17 figures, 2 table

Factitious Disorders and Cardiothoracic Surgery: The Ongoing Multidisciplinary Challenges of a Complex Case

Chronic factitious disorder, Munchausen's syndrome, can be challenging to manage—particularly when complaints and symptoms suggest medical or surgical emergencies. We present a patient whose problems have spanned many years and a great distance. Hopefully, with a greater awareness of this disease, as this patient continues to seek health care in many different hospitals, the implications of timely access to information, good histories and physical exams, and an index of suspicion can assist in potentially avoiding unnecessary, expensive, and invasive evaluations