Publications by authors named "Harrison Moore"

4 Publications

  • Page 1 of 1

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

Genet Med 2021 Feb 11;23(2):384-395. Epub 2020 Nov 11.

Institute of Human Genetics, Technical University Munich, Munich, Germany.

Purpose: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome).

Methods: Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained through exome or genome sequencing at ten different sequencing centers.

Results: We identified multiple variant types in MSL3 (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, one multi-exon deletion), most proven to be de novo, and clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript. Three-dimensional modeling of missense and splice variants indicated that these have a deleterious effect. The main clinical findings comprised developmental delay and intellectual disability ranging from mild to severe. Autism spectrum disorder, muscle tone abnormalities, and macrocephaly were common as well as hearing impairment and gastrointestinal problems. Hypoplasia of the cerebellar vermis emerged as a consistent magnetic resonance image (MRI) finding. Females and males were equally affected. Using facial analysis technology, a recognizable facial gestalt was determined.

Conclusion: Our aggregated data illustrate the genotypic and phenotypic spectrum of X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome). Our cohort improves the understanding of disease related morbidity and allows us to propose detailed surveillance guidelines for affected individuals.
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http://dx.doi.org/10.1038/s41436-020-00993-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862064PMC
February 2021

Sub-lethal effects of Roundup™ on tadpole anti-predator responses.

Ecotoxicol Environ Saf 2015 Jan 6;111:281-5. Epub 2014 Nov 6.

Department of Biomedical Sciences, WCVM, University of Saskatchewan, 52 Campus Drive, Saskatoon, SK, Canada S7N 5B4. Electronic address:

Roundup™ is a commonly used pesticide applied to agriculture and forest habitats. These areas are generally ideal for amphibians due to the presence of small, ephemeral water bodies. While Roundup™ has been shown to have lethal effects on many species of amphibians, effects on behaviour and sensory perception have yet to be considered. Here, we exposed wood frog tadpoles to a sub-lethal concentration of Roundup™ and showed that the ability of tadpoles to respond to injured conspecific cues, an important source of information regarding local predation risk, was impaired. Subsequent experiments revealed that impaired responses likely result from a chemical reaction between the Roundup™ and the cues and that tadpoles chronically exposed to Roundup™ had reduced basal movement rates compared with unexposed tadpoles. Our data demonstrate that environmentally-relevant concentrations of Roundup™ can drastically alter movement and anti-predator responses of tadpoles, with potential negative consequences for the population.
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http://dx.doi.org/10.1016/j.ecoenv.2014.10.014DOI Listing
January 2015

Comparison of low and intermediate source strengths for (125)I prostate brachytherapy implants.

Brachytherapy 2013 Sep-Oct;12(5):442-8. Epub 2013 May 23.

Division of Radiation Oncology, Cross Cancer Institute, Edmonton, Alberta, Canada; Department of Oncology, University of Alberta, Edmonton, Alberta, Canada. Electronic address:

Purpose: To compare the implant quality and clinical outcomes for patients treated with low and intermediate strength (125)I seeds in prostate brachytherapy implants.

Methods And Materials: This retrospective review included 390 consecutive patients treated with prostate brachytherapy from 1999 to 2006. The first 142 patients were implanted with source strengths lower than 0.415U (0.327mCi), with the subsequent 248 patients implanted with source strengths higher than 0.493U (0.388mCi). Clinical, dosimetric, toxicity, and outcome data were compared between these two cohorts of patients.

Results: Despite having similar prostate volumes, fewer sources (median, 95 vs. 113; p<0.0001) and fewer needles (median, 23 vs. 29; p<0.0001) were implanted in the intermediate strength cohort. The postimplant dosimetry demonstrated better quality implants in patients treated with intermediate strength sources (median D90, 160.0Gy vs. 139.6Gy; p<0.0001), with greater dose inhomogeneity identified in the intermediate strength cohort of patients. A higher incidence of late rectal toxicity was identified in patients treated with intermediate strength sources despite lower rectal doses in this cohort. The biochemical relapse-free survival, prostate cancer survival, and overall survival were not significantly different between the two cohorts.

Conclusions: The transition from low to intermediate strength sources has led to fewer resources being used and improved postoperative dosimetry. Although there were more rectal complications identified in the intermediate strength cohort of patients in this analysis, there were no other significantly worse clinical or biochemical outcomes for patients implanted with intermediate strength sources.
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http://dx.doi.org/10.1016/j.brachy.2013.02.004DOI Listing
May 2014

Regional treatment margins for prostate brachytherapy.

Brachytherapy 2013 Nov-Dec;12(6):596-602. Epub 2013 May 7.

Department of Oncology, University of Alberta, Edmonton, Alberta, Canada.

Purpose: This study quantified the treatment margin (TM) around the prostate that received 100% of the prescribed dose and analyzed postimplant dosimetry in different regions of the prostate for (125)I seed implants.

Methods And Materials: An average target volume (ATV) was created from postoperative MRI scan contours drawn independently by five radiation oncologists in 40 patients. The MRI was fused with the postoperative CT for dosimetry purposes. The TM, defined as the radial distance between the ATV and the 100% isodose line, was measured at 16 points at the base, midgland, and apex. The ATV was divided into four quadrants: anterior-superior, posterior-superior, anterior-inferior, and posterior-inferior quadrants. The values of the dose that covers 90% of the ATV (D90) and the percentage of the ATV receiving the prescribed dose (V100) received by the whole prostate and its four quadrants were documented.

Results: The range of the mean TM, in millimeter, was -8.88 to 3.68, 1.12 to 10.42, and 6.27 to 18.25 at the base, midgland, and apex, respectively. The mean D90 was 135.8, 162.8, 191.0, and 194.6 Gy for the anterior-superior, posterior-superior, anterior-inferior, and posterior-inferior quadrants, respectively.

Conclusions: Despite having a relatively uniform preoperative planning target volume, this study identified variable TMs postoperatively in different regions of the prostate. In particular, the anterior base is most underdosed, whereas the lateral regions of the midgland and apex have generous TMs. Postimplant dosimetric parameters were lowest in the anterior-inferior quadrant.
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http://dx.doi.org/10.1016/j.brachy.2013.04.003DOI Listing
May 2014