Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder.

We report a 17-year-old male with supravalvular stenosis, initial failure to thrive and delayed early development, short stature, acromelia, dysmorphic facial features, hypertelorism, macrocephaly, syringomyelia, hypertension, and anxiety disorder. Fluorescent in situ hybridization (FISH), chromosomal microarray analysis (CMA), and exome sequencing (ES) were nondiagnostic. Combined optical genome mapping (OGM) and genome sequencing (GS) showed a complex rearrangement including an X chromosome with a 22.

Heat shock protein 70 kDa (HSP70) is involved in the maintenance of pig sperm function throughout liquid storage at 17 °C.

At present, liquid storage is the most efficient method for pig semen preservation. This approach relies upon reducing sperm metabolism, allowing for the maintenance of cell lifespan. In this context, the study of proteins that could protect sperm during liquid storage is of high relevance.

Voltage-dependent anion channels are involved in the maintenance of pig sperm quality during liquid preservation.

Pigs are usually bred through artificial insemination with liquid semen preserved at 15-20 °C. While this method of preservation brings many benefits, including a greater reproductive performance compared to frozen-thawed sperm, the period of storage is a limiting factor. As the mitochondrion regulates many facets of sperm physiology, modulating its activity could have an impact on their lifespan.

Sterol O-Acyltransferase 1 (): A Genetic Modifier of Niemann-Pick Disease, Type C1.

Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular cholesterol transport out of the endolysosomal compartment.. Marked heterogeneity has been observed in individuals with the same genotype, thus suggesting a significant effect of modifier genes.

Exposure Assessment of Pesticides in Surface Waters of Ontario, Canada Reveals Low Probability of Exceeding Acute Regulatory Thresholds.

The objectives of this study were to: (1) characterize the exposure of aquatic ecosystems in Southern Ontario, Canada to pesticides between 2002 and 2016 by constructing environmental exposure distributions (EEDs), including censored data; and (2) predict the probability of exceeding acute regulatory guidelines. Surface water samples were collected over a 15-year period by Environment and Climate Change Canada. The dataset contained 167 compounds, sampled across 114 sites, with a total of 2,213 samples.

Human health and environmental risk assessment of metals in community gardens of Winnipeg, Manitoba, Canada.

Fresh produce is an important component of maintaining cognitive and physical health, particularly for children. A mechanism to increase access to fresh produce is the construction of community gardens in urban centres. While reducing barriers to nutritious food, the soil of the community garden can contain contaminants (e.

Programmed Death-Ligand (PD-L1), Epidermal Growth Factor (EGF), Relaxin, and Matrix Metalloproteinase-3 (MMP3): Potential Biomarkers of Malignancy in Canine Mammary Neoplasia.

Gene expression has been suggested as a putative tool for prognosis and diagnosis in canine mammary neoplasia (CMNs). In the present study, 58 formalin-fixed paraffin-embedded (FFPE) paraffined canine mammary neoplasias from 27 different bitches were included. Thirty-seven tumours were classified as benign, whereas thirty-one were classified as different types of canine carcinoma.

Occurrence and ecological risk assessment of organic UV filters in coastal waters of the Iberian Peninsula.

This study aimed to assess the presence of 21 UVFs and metabolites in coastal regions of the Iberian Peninsula, to evaluate their environmental risk, and identify possible influential factors affecting their measured concentrations. Sampling was carried out in spring and summer to assess possible seasonal variations. UVFs were detected in 43 of the 46 sampling sites.

Inbred SJL mice recapitulate human resistance to infection due to differential immune activation.

Cryptococcosis studies often utilize the common C57BL/6J mouse model. Unfortunately, infection in these mice fails to replicate the basic course of human disease, particularly hampering immunological studies. This work demonstrates that SJL/J mice can recapitulate human infection better than other mouse strains.

Micrococcal nuclease sequencing of porcine sperm suggests enriched co-location between retained histones and genomic regions related to semen quality and early embryo development.

The mammalian spermatozoon has a unique chromatin structure in which the majority of histones are replaced by protamines during spermatogenesis and a small fraction of nucleosomes are retained at specific locations of the genome. The sperm's chromatin structure remains unresolved in most animal species, including the pig. However, mapping the genomic locations of retained nucleosomes in sperm could help understanding the molecular basis of both sperm development and function as well as embryo development.

Improving the design and conduct of aquatic toxicity studies with oils based on 20 years of CROSERF experience.

Laboratory toxicity testing is a key tool used in oil spill science, spill effects assessment, and mitigation strategy decisions to minimize environmental impacts. A major consideration in oil toxicity testing is how to replicate real-world spill conditions, oil types, weathering states, receptor organisms, and modifying environmental factors under laboratory conditions. Oils and petroleum-derived products are comprised of thousands of compounds with different physicochemical and toxicological properties, and this leads to challenges in conducting and interpreting oil toxicity studies.

Canine Mammary Neoplasia Induces Variations in the Peripheral Blood Levels of CD20, CD45RA, and CD99.

The idea of using tumour biomarkers as diagnostic tools is progressively increasing. Of these, serum biomarkers are of particular interest, as they can provide rapid results. In the present study, serum samples from 26 bitches diagnosed with mammary tumours, plus 4 healthy bitches, were obtained.

Chemical Weathering Patterns of Diluted Bitumen Spilled into Freshwater Limnocorrals.

Due to the sudden nature of oil spills, few controlled studies have documented how oil weathers immediately following accidental release into a natural lake environment. Here, we evaluated the weathering patterns of Cold Lake Winter Blend, a diluted bitumen (dilbit) product, by performing a series of controlled spills into limnocorrals installed in a freshwater lake in Northern Ontario, Canada. Using a regression-based design, we added seven different dilbit volumes, ranging from 1.

Radio- and stable carbon isotope analysis reveals minimal assimilation of petrogenic carbon into an oligotrophic freshwater food web after experimental spills of diluted bitumen.

Following an oil spill into water, bacteria can biodegrade petroleum hydrocarbons which could lead to petrogenic carbon assimilation by aquatic biota. We used changes in the isotope ratios of radio- (ΔC) and stable (δC) carbon to examine the potential for assimilation of petrogenic carbon into a freshwater food web following experimental spills of diluted bitumen (dilbit) into a boreal lake in northwestern Ontario, Canada. Different volumes (1.

The Challenges of Characterizing the Zooplankton Community Response Following Simulated Spills of Diluted Bitumen into Boreal Lake Limnocorrals.

We attempted to characterize zooplankton community response following spills of the unconventional crude oil, diluted bitumen (dilbit), into 10-m diameter, ~ 100 m, ~ 1.5-m deep boreal lake limnocorrals, including two controls and seven dilbit treatments ranging from 1.5 to 180 L (1:100,000 to 1:1,000 v/v, dilbit:water).

The effects of red LED light on pig sperm function rely upon mitochondrial electron chain activity rather than on a PKC-mediated mechanism.

While irradiation with red LED light has been reported to modulate sperm function in different mammalian species, the mechanisms underlying their response are poorly understood. This work sought to provide new insights into whether this effect relies on a direct action upon mitochondrial electron chain and/or on PKC-linked mechanisms such as those related to opsins. For this purpose, pig semen was light-stimulated for 1, 5 or 10 min in the presence/absence of antimycin A, an inhibitor of the mitochondrial electron chain, or PKC 20-28 (PKCi), a PKC inhibitor.

Bioaccumulation and toxicokinetics of polycyclic aromatic compounds and metals in giant floater mussels (Pyganodon grandis) exposed to a simulated diluted bitumen spill.

Oil spills constitute a major risk to the environment and the bioaccumulation potential of the derived oil constituents will influence their impact on aquatic biota. Here we determined the bioaccumulation potential and toxicokinetic parameters of polycyclic aromatic compounds (PACs) and various selected metals in the giant floater mussels (Pyganodon grandis) following experimental oil spills in a freshwater lake. Specifically, these mussels were exposed ex situ for 25 days to water contaminated with naturally weathered diluted bitumen (dilbit), a form of oil commonly transported through pipelines.

Combustion of crude oil during in-situ burning can introduce polycyclic aromatic compounds (PACs) into small-scale freshwater systems.

In-situ burning (ISB) is the controlled combustion of an oil slick to remove large quantities of spilled oil from the aquatic environment. Prior to employing ISB as a remediation technique, an oil slick must often be corralled by physical or chemical means to achieve a sufficient thickness (typically >1 mm) for ignition. While ISB is an effective means to remove oil mass, less is known about the potential for ISB to mobilize polycyclic aromatic compounds (PACs) into the aquatic environment.

Responses of Wild Finescale Dace (Phoxinus neogaeus) to Experimental Spills of Cold Lake Blend Diluted Bitumen at the International Institute for Sustainable Development-Experimental Lakes Area, Northwestern Ontario.

Pipelines carrying diluted bitumen (dilbit) traverse North America and may result in dilbit release into sensitive freshwater ecosystems. To better understand the potential effects of a freshwater oil release, the Boreal-lake Oil Release Experiment by Additions to Limnocorrals project at the International Institute for Sustainable Development-Experimental Lakes Area (Ontario, Canada) modeled seven dilbit spills contained within a 10-m diameter of littoral limnocorrals in a boreal lake. Wild finescale dace (Phoxinus neogaeus) were released in the limnocorrals 21 days after oil addition and remained there for 70 days.

Rat age-related benign prostate hyperplasia is concomitant with an increase in the secretion of low ramified α-glycosydic polysaccharides.

This work analysed the expression of prostate polysaccharides in rats with age-related benign prostatic hyperplasia (BPH) for a better understanding of the possible relationship between prostate polysaccharides secretion and BPH onset. For this, prostatic glands from 1 month-old, 3 months-old, 6 months-old and 12 months-old Sprague-Dawley rats were processed in order to identify their overall polysaccharide content. Additionally, serum testosterone was also determined.

Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach.

Polygenic risk scores (PRSs) are useful for predicting breast cancer risk, but the prediction accuracy of existing PRSs in women of African ancestry (AA) remains relatively low. We aim to develop optimal PRSs for the prediction of overall and estrogen receptor (ER) subtype-specific breast cancer risk in AA women. The AA dataset comprised 9235 cases and 10 184 controls from four genome-wide association study (GWAS) consortia and a GWAS study in Ghana.