Retinal cone photoreceptor distribution in the American black bear (Ursus americanus)

The distribution of cone photoreceptor subtypes (important for color vision and vision quality) varies widely in different carnivore species, but there have been limited studies on bear (ursid) cone distribution. A previous behavioral study suggests that American black bears (Ursus americanus) are dichromatic, indicating that they possess two cone subtypes, although the retinal distribution of cones is unknown. The purpose of this study was to examine the subtype and topography of cones in American black bear retinas to further predict the nature of their color vision and image resolution. We studied 10 eyes from seven individual legally hunted black bears in northeastern North Carolina. Cryosections and retinal wholemounts were labeled using antibodies targeting two cone opsin subtypes: long/medium (L/M) wavelength sensitive and short (S) wavelength sensitive. Cones in fluorescent microscopy images were counted and density maps were created for retinal wholemounts. The black bear retina contains both cone subtypes and L/M cones outnumber S cones by at least 3:1, a finding confirmed in retinal frozen sections. There are higher concentrations of S cones present than typically seen in other carnivores with some evidence for co-expression of L/M and S cones. A cone-dense area centralis is present dorsotemporal to the optic nerve, similar to other carnivores. These results confirm that American black bears are predicted to have a dichromatic vision with high acuity indicated by the presence of a dorsotemporally located area centralis.     

Physiology of handcycling: A current sports perspective

Handcycling is a mode of mobility, and sport format within Para‐cycling, for those with a lower limb impairment. The exercise modality has been researched extensively in the rehabilitation setting. However, there is an emerging body of evidence detailing the physiological responses to handcycling in the competitive sport domain. Competitive handcyclists utilize equipment that is vastly disparate to that used for rehabilitation or recreation. Furthermore, the transferability of findings from early handcycling research to current international athletes regarding physiological profiles is severely limited. This narrative review aims to map the landscape within handcycling research and document the growing interest at the elite end of the exercise spectrum. From 58 experimental/case studies and four doctoral theses, we provide accounts of the aerobic capacity of handcyclists and the influence training status plays; present research regarding the physiological responses to handcycling performance, including tests of sprint performance; and discuss the finite information on handcyclists’ training habits and efficacy of bespoke interventions. Furthermore, given the wide variety of protocols employed and participants recruited previously, we present considerations for the interpretation of existing research and recommendations for future work, all with a focus on competitive sport. The majority of studies (n = 21) reported aerobic capacity, detailing peak rates of oxygen uptake and power output, with values >3.0 L min^?1 and 240 W shown in trained, male H3‐H4 classification athletes. Knowledge, though, is lacking for other classifications and female athletes. Similarly, little research is available concerning sprint performance with only one from eight studies recruiting athletes with an impairment.     

Metabolomics in postmortem cerebrospinal fluid diagnostics: a state-of-the-art method to interpret central nervous system–related pathological processes

International Journal of Legal Medicine - In the last few years, quantitative analysis of metabolites in body fluids using LC/MS has become an established method in laboratory medicine and...     

Disruption of EXOC6B in a patient with developmental delay,epilepsy, and a de novo balanced t(2;8) translocation

Most balanced chromosomal aberrations are not associated with a clinical phenotype, however, in some patients they may disrupt gene structure. With the development of various next-generation sequencing techniques, fast and specific analyses of the breakpoint regions of chromosomal rearrangements are possible. Here, we report on a 19-year-old woman with a de novo balanced translocation t(2;8)(p13.2;q22.1) and a severe clinical phenotype including intellectual disability, epilepsy, behavioral features resembling autism, and minor dysmorphic features. By next-generation sequencing, we defined the breakpoints and found disruption of the exocyst complex component 6B (EXOC6B) gene in intron 1 on chromosome 2p13.2 involving two Alu elements with a homology of 81%. No gene was found at the respective breakpoint on chromosome 8. Expression analysis of the EXOC6B in blood lymphocytes and buccal smear revealed reduced expression in the patient in comparison with the control. Our findings in combination with one recently published case and one other patient listed in DECIPHER v5.1 indicate EXOC6B as a gene relevant for intellectual development and electrophysiological stability.     

Breakpoint characterization of the der(19)t(11;19)(q13;p13) in the ovarian cancer cell line SKOV‐3

About 20% of ovarian carcinomas show alterations of 19p13 and/or 19q13 in the form of added extra material whose origin often is from chromosome 11. Based on earlier spectral karyotype analysis of the ovarian cancer cell line SKOV‐3, which shows an unbalanced translocation der(19)t(11;19), the aim of this study was to determine the precise breakpoints of that derivative chromosome. After rough delimitation of the breakpoints of microdissected derivative chromosomes by array analysis, we designed a matrix of primers spanning 11q13.2 and 19p13.2 detecting multiple amplicons on genomic and cDNA. Sequencing the amplicons, accurate localization of both breakpoints on both chromosomes was possible and we found that exon 14 of HOOK2 from chromosome 19 and exon 2 of ACTN3 from chromosome 11 were fused in the derivative chromosome. The breakpoint in the HOOK2 gene was in an intrinsic triplet of nucleic acids leading to a shift in the ACTN3 reading frame in the derivative chromosome. This frameshift alteration should give rise to an early stop codon causing a loss of function of ACTN3. Signals in two‐dimensional Western blotting exactly match to calculated molecular mass and the isoelectric point of the fusion protein. © 2013 Wiley Periodicals, Inc.