Search

A growing literature supports the feasibility and validity of telehealth-based assessments for autism spectrum disorder (ASD). Better understanding families' experiences is crucial for sustained use beyond the COVID-19 pandemic. This study qualitatively examines caregiver experiences with the Telehealth Evaluation of Development for Infants (TEDI) protocol to better understand benefits and challenges of telehealth-based evaluations. Caregivers (N = 32) completed an online survey following a telehealth-based evaluation with their 6-12 month-old infants. Open-ended text responses to queries about perceived benefits, challenges, and suggestions for future adaptations were coded. Most caregivers reported positive experiences with minor feedback relating to tailoring of individual needs. Responses suggest the TEDI is a feasible approach and provide guidance for components of successful telehealth evaluations more broadly.

Since domestication, horses have been selectively bred for various coat colors and white spotting patterns. To investigate breed distribution, allele frequencies, and potential lethal variants for recommendations on genetic testing, 29 variants within 14 genes were investigated in 11,281 horses from 28 breeds. The recessive chestnut ea allele in melanocortin 1 receptor (MC1R) (p.D84N) was identified in four breeds: Knabstrupper, Paint Horse, Percheron, and Quarter Horse. After filtering for relatedness, ea allele frequency in Knabstruppers was estimated at 0.035, thus illustrating the importance of testing for mate selection for base coat color. The Rocky Mountain Horse breed had the highest allele frequency for two of the dilution variants under investigation (Za.f. = 0.32 and Cha.f. = 0.026); marker-assisted selection in this breed could aid in the production of horses with desirable dilute coats with less severe ocular anomalies caused by the silver (Z) allele. With regard to white patterning, nine horses homozygous for the paired box 3 (PAX3) splashed white 2 (SW2) allele (p.C70Y) and six horses homozygous for the KIT proto-oncogene, receptor tyrosine kinase (KIT) sabino 1 (SB1) allele (ECA3g.79544206A>T) were identified, thus determining they are rare and confirming that homozygosity for SW2 is not embryonic lethal. The KIT dominant white 20 (W20) allele (p.R682H) was identified in all but three breeds: Arabian (n = 151), Icelandic Horse (n = 66), and Norwegian Fjord Horse (n = 90). The role of W20 in pigmentation across breeds is not well understood; given the different selection regimes of the breeds investigated, these data provide justification for further evaluating the functional role of this allele in pigmentation. Here, we present the largest dataset reported for coat color variants in horses to date, and these data highlight the importance of breed-specific studies to inform on the proper use of marker-assisted selection and to develop hypotheses related to pigmentation for further testing in horses.

American Standardbreds were developed as a harness racing horse breed. The United States Trotting Association closed the studbook in 1973 and implemented a book size cap in 2009. This study aimed to investigate genetic diversity in the American Standardbred after the studbook cap was introduced using short tandem repeats (STRs) and single-nucleotide polymorphisms (SNPs). Sixteen STRs from horses foaled from 2010 to 2015 and their sires and dams (n = 50 621) were utilized to examine allelic richness (Ar), expected heterozygosity (HE), observed heterozygosity (HO), unbiased heterozygosity (HU), inbreeding coefficient (FIS), and fixation index (FST). These analyses found that trotting and pacing sires were less genetically diverse than dams (HEPBonferroni = 0.029 and 6.3 × 10-5, respectively) and their offspring (ArPBonferroni = 0.034 and 6.9 × 10-6, respectively), and pacing offspring were significantly less diverse than their dams (HEPBonferroni = 2 × 10-3). Inbreeding coefficients for trotters (FIS = -0.014) and pacers (FIS = -0.012) suggest that breeding practices have maintained diversity. Moderate levels of genetic differentiation (0.066 < FST < 0.11) were found between pacing and trotting groups. Additionally, 10 of the most prolific trotting sires and their male offspring (n = 84) were genotyped on the 670K Axiom Equine HD Array. HO values higher than HE (P < 0.001), low inbreeding coefficients (mean F = -0.064), and mean FROH = 21% indicate relatively high levels of diversity in this cohort, further supporting the STR data. However, in contrast, HO values were higher for trotting sires (0.41) than their offspring (0.36). This observation warrants further monitoring of diversity over time. These data provide an updated foundation of diversity indices for further, long-term analysis in the breed.

Following the successful creation of a biobank from two adult Thoroughbred mares, this study aimed to recapitulate sample collection in two adult Thoroughbred stallions as part of the Functional Annotation of the Animal Genome (FAANG) initiative. Both stallions underwent thorough physical, lameness, neurologic, and ophthalmic (including electroretinography) examinations prior to humane euthanasia. Epididymal sperm was recovered from both stallions immediately postmortem and cryopreserved. Aseptically collected full thickness skin biopsies were used to isolate, culture and cryopreserve dermal fibroblasts. Serum, plasma, cerebrospinal fluid, urine, and gastrointestinal content from various locations were collected and cryopreserved. Under guidance of a board-certified veterinary anatomic pathologist, 102 representative tissue samples were collected from both horses. Whole tissue samples were flash-frozen and prioritized tissues had nuclei isolated and cryopreserved. Spatially contemporaneous samples of each tissue were submitted for histologic examination. Antemortem and gross pathologic examination revealed mild abnormalities in both stallions. One stallion (ECA_UCD_AH3) had unilateral thoracic limb lameness and bilateral chorioretinal scars. The second stallion (ECA_UCD_AH4) had subtle symmetrical pelvic limb ataxia, symmetrical prostatomegally, and moderate gastrointestinal nematodiasis. DNA from each was whole-genome sequenced and genotyped using the GGP Equine 70K SNP array. The genomic resources and banked biological samples from these animals augments the existing resource available to the equine genomics community. Importantly we may now improve the resolution of tissue-specific gene regulation as affected by sex, as well as add sex-specific tissues and gametes.

Coat color is a trait of economic significance in horses. Variants in seven genes have been documented to cause white patterning in horses. Of the 34 variants that have been identified in KIT proto-oncogene, receptor tyrosine kinase (KIT), 27 have only been reported in a single individual or family and thus not all are routinely offered for genetic testing. Therefore, to enable proper use of marker-assisted selection, determining breed specificity for these alleles is warranted. Screening 19 unregistered all-white Shetland ponies for 16 white patterning markers identified 14 individuals whose phenotype could not be explained by testing results. In evaluating other known dominant white variants, 14 horses were heterozygous for W13. W13 was previously only reported in two quarter horses and a family of Australian miniature horses. Genotyping known white spotting variants in 30 owner-reported white animals (25 Miniature Horses and five Shetland ponies) identified two additional W13/N American Miniature Horses. The estimated allele frequency of W13 in the American Miniature Horse was 0.0063 (79 N/N, 1 W13/N) and the allele was not detected in a random sample (n = 59) of Shetland ponies. No homozygous W13 individuals were identified and W13/N ponies had a similar all-white coat with pink skin phenotype, regardless of the other white spotting variants present, demonstrating that W13 results in a Mendelian inherited dominant white phenotype and homozygosity is likely lethal. These findings document the presence of W13 in the American Miniature Horse and Shetland pony populations at a low frequency and illustrate the importance of testing for this variant in additional breeds.

Congenital stationary night blindness (CSNB) is an ocular disorder characterized by nyctalopia. An autosomal recessive missense mutation in glutamate metabotropic receptor 6 (GRM6 c.533C>T, p.(Thr178Met)), called CSNB2, was previously identified in one Tennessee Walking Horse and predicted to reduce binding affinity of the neurotransmitter glutamate, impacting the retinal rod ON‐bipolar cell signaling pathway. Thus, the first aim was to identify the allele frequency (AF) of CSNB2 in breeds with reported cases of CSNB and breeds closely related to the Tennessee Walking Horse. The second aim was to perform ocular examinations in multiple breeds to confirm the link between genotype and CSNB phenotype. In evaluating 3518 horses from 14 breeds, the CSNB2 allele was identified in nine previously unreported breeds. The estimated AF was highest in pacing Standardbreds (0.17) and lowest in American Quarter Horses (0.0010). Complete ophthalmic examinations and electroretinograms (ERG) were performed on 19 horses from three breeds, including one CSNB2 homozygote from each breed. All three CSNB2/CSNB2 horses had an electronegative ERG waveform under scotopic light conditions consistent with CSNB. The remaining 16 horses (seven CSNB2/N and nine N/N) had normal scotopic ERG results. All horses had normal photopic ERGs. This study provides additional evidence that GRM6 c.533C>T homozygosity is likely causal to CSNB in Tennessee Walking Horses, Standardbreds, and Missouri Fox Trotting Horses. Genetic testing is recommended for breeds with the CSNB2 allele to limit the production of affected horses. This study represents the largest across‐breed identification of CSNB in the horse and suggests that this disorder is likely underdiagnosed. [ABSTRACT FROM AUTHOR]

The baryon acoustic oscillations (BAOs) phenomenon provides a unique opportunity to establish a standard ruler at any epoch in the history of the evolving universe. The key lies in identifying a suitable cosmological tracer to conduct the measurement. In this study, we focus on quantifying the sound horizon scale of BAO in the Local Universe. Our chosen cosmological tracer is a sample of blue galaxies from the Sloan Digital Sky Survey (SDSS), positioned at the effective redshift |$z_{{\rm eff}} = 0.166$|⁠. Utilizing Planck-CMB input values for redshift-to-distance conversion, we derive the BAO scale |$s_{{\rm BAO}} = 100.28 ^{+10.79} _{-22.96}$| Mpc h −1 at the 1 |$\sigma$| confidence level. Subsequently, we extrapolate the BAO signal scale in redshift space: |$\Delta z_{{\rm BAO}}(z_{\rm eff}=0.166)=0.0361^{+0.00262}_ {-0.0055}$|⁠. This measurement holds the potential to discriminate among dark energy models within the Local Universe. To validate the robustness of our methodology for BAO scale measurement, we conduct three additional BAO analyses using different cosmographic approaches for distance calculation from redshifts. These tests aim to identify possible biases or systematics in our measurements of |$s_{{\rm BAO}}$|⁠. Encouragingly, our diverse cosmographic approaches yield results in statistical agreement with the primary measurement, indicating no significant deviations. Conclusively, our study contributes with a novel determination of the BAO scale in the Local Universe, at |$z_{{\rm eff}} = 0.166$|⁠ , achieved through the analysis of the SDSS blue galaxies cosmic tracer. [ABSTRACT FROM AUTHOR]

This is a model-independent analysis that investigates the statistical isotropy in the Local Universe using the Arecibo Legacy Fast ALFA (ALFALFA) survey data (0 < z < 0.06). We investigate the angular distribution of H  i extragalactic sources from the ALFALFA catalogue and study whether they are compatible with the statistical isotropy hypothesis using the two-point angular correlation function (2PACF). Aware that the Local Universe is plenty of clustered structures and large voids, we compute the 2PACF with the Landy–Szalay estimator performing directional analyses to inspect 10 sky regions. We investigate these 2PACF using power-law best-fitting analyses, and determine the statistical significance of the best-fitting parameters for the 10 ALFALFA regions by comparison with the ones obtained through the same procedure applied to a set of mock catalogues produced under the homogeneity and isotropy hypotheses. Our conclusion is that the Local Universe, as mapped by the H  i sources of the ALFALFA survey, is in agreement with the hypothesis of statistical isotropy within |$2\sigma$| confidence level, for small- and large-angle analyses, with the only exception of one region – located near the Dipole Repeller – that appears slightly outlier (⁠|$2.4\sigma$|⁠). Interestingly, regarding the large angular distribution of the H  i sources, we found three regions where the presence of cosmic voids reported in the literature left their signature in our 2PACF, suggesting projected large underdensities there, with number-density contrast δ ≃ −0.7. According to the current literature, these regions correspond, partially, to the sky position of the void structures known as Local Cosmic Void and Dipole Repeller. [ABSTRACT FROM AUTHOR]

Lifestyle changes regarding diet composition and exercise training have been widely used as a non-pharmacological clinical strategy in the treatment of obesity, a complex and difficult-to-control disease. Taking the potential of exercise in the browning process and in increasing thermogenesis into account, the aim of this paper was to evaluate the effect of resistance, aerobic, and combination training on markers of browning of white adipose tissue from rats with obesity who were switched to a balanced diet with normal calorie intake. Different types of training groups promote a reduction in the adipose tissue and delta mass compared to the sedentary high-fat diet group (HS). Interestingly, irisin in adipose tissues was higher in the resistance exercise (RE) and aerobic exercise (AE) groups compared to control groups. Moreover, in adipose tissue, the fibroblast growth factor 21 (FGF21), coactivator 1 α (PGC1α), and peroxisome proliferator-activated receptor gamma (PPARγ) were higher in response to resistance training RE compared with the control groups, respectively. Additionally, uncoupling protein 1 (UCP1) showed higher levels in response to group AE compared to the HS group. In conclusion, the browning process in white adipose tissue responds differently toward different training exercise protocols, with resistance and aerobic training efficient in activating different biomarkers of the browning process, upregulating irisin, FGF21, PGC1α, PPARγ, and UCP1 in WAT, which together may suggest an improvement in the thermogenic process in the adipose tissue. Considering the experimental conditions of the present investigation, we suggest future research to pave new avenues to be applied in clinical practices to combat obesity. [ABSTRACT FROM AUTHOR]