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This review of the literature was conducted to define avoidant restrictive food intake disorder (ARFID) and provide the current evidence-based treatment modalities and implications for Nurse Practitioners. A specific case is used to illustrate the daily struggles of a pediatric patient with ARFID that include bullying, self-doubt, and anxiety related to eating. There is a need for increased awareness of the disorder to increase identification of the disorder, enhance the research on treatment modalities for the disorder, and most importantly, to increase the quality of life for those with the disorder and their family members.

Multiple source apportionment approaches were employed to investigate PAH sources which contribute to small craft harbor (SCH) sediments in Nova Scotia (NS), Canada. A total of 580 sediment samples were analyzed using PAH diagnostic ratios, Unmix Optimum receptor modeling, and by assessment of the composition of the PAH profile. PAH diagnostic ratios suggest PAHs are primarily of pyrogenic (thermal) origin, while UnmixO modeling identifies four individual sources which best describe surficial sediments and suggests contributions from both pyrogenic and petrogenic origins. These include coal combustion, automobile exhaust, and biomass incineration. PAH profile assessment determined an overwhelming contribution of high molecular weight PAHs, which exhibited a strong correlation with total PAH concentrations.

Ecological risk assessment of metals (As, Cd, Cr, Cu, Hg, Ni, Pb and Zn) in surface sediments from 31 small craft harbours (SCHs) in Nova Scotia, Canada was conducted using multiple risk assessment approaches. Approaches used were contamination factor, pollution load index, geoaccumulation index, potential ecological risk factor for individual metals, comprehensive potential ecological risk index, mean probable effect level quotient and mean effects range median quotient. Results indicated most SCHs exhibited low ecological risk from sediment metal concentrations, except for two harbours. Metal contamination was highest in Canso Harbour, followed by Clarks Harbour. SCH sediments were only slightly contaminated with low probability of pollution according to mean probable effect level and mean effects range median quotients. However, pollution load and geoaccumulation indexes indicated Cd and Hg had the highest metal contamination across SCH sediments. Cadmium and Hg had the highest potential ecological risk, respectively compared to other metals.

Polycyclic aromatic hydrocarbons (PAHs) have been widely studied in sediments due to their ubiquity and persistence in aquatic environments and potential for impairment to biota. Small craft harbour (SCH) sediments in Nova Scotia (NS), Canada, have yet to be studied comprehensively. SCHs are essential to the fishing industry, which is important for the Canadian economy. This spatiotemporal characterization study evaluated thirty-one SCHs across NS between 2001 and 2017 by analyzing sediment reports (secondary data). Sediment PAH concentrations varied widely across all SCHs. Few SCHs exhibited sediment PAH concentrations likely to impair biota based on comparison to sediment quality guidelines. Sediments in the Gulf region of NS were least impacted by PAHs, while the Southwest region was most impacted. Distribution of individual PAHs in sediments follows global trends, with high molecular weight PAHs dominating samples.

Missense DNA variants have variable effects upon protein function. Consequently, interpreting their pathogenicity is challenging, especially when they are associated with disease variability. To determine the degree to which functional assays inform interpretation, we analyzed 48 CFTR missense variants associated with variable expressivity of cystic fibrosis (CF). We assessed function in a native isogenic context by evaluating CFTR mutants that were stably expressed in the genome of a human airway cell line devoid of endogenous CFTR expression. 21 of 29 variants associated with full expressivity of the CF phenotype generated 25% WT-CFTR function; two were higher than 75% WT-CFTR. As expected, 14 of 19 variants associated with partial expressivity of CF had >25% WT-CFTR function; however, four had minimal to no effect on CFTR function (>75% WT-CFTR). Thus, 6 of 48 (13%) missense variants believed to be disease causing did not alter CFTR function. Functional studies substantially refined pathogenicity assignment with expert annotation and criteria from the American College of Medical Genetics and Genomics and Association for Molecular Pathology. However, four algorithms (CADD, REVEL, SIFT, and PolyPhen-2) could not differentiate between variants that caused severe, moderate, or minimal reduction in function. In the setting of variable expressivity, these results indicate that functional assays are essential for accurate interpretation of missense variants and that current prediction tools should be used with caution.

We developed a variant-annotation method that combines sequence-based machine-learning classification with a context-dependent algorithm for selecting splice variants. Our approach is distinctive in that it compares the splice potential of a sequence bearing a variant with the splice potential of the reference sequence. After training, classification accurately identified 168 of 180 (93.3%) canonical splice sites of five genes. The combined method, CryptSplice, identified and correctly predicted the effect of 18 of 21 (86%) known splice-altering variants in CFTR, a well-studied gene whose loss-of-function variants cause cystic fibrosis (CF). Among 1,423 unannotated CFTR disease-associated variants, the method identified 32 potential exonic cryptic splice variants, two of which were experimentally evaluated and confirmed. After complete CFTR sequencing, the method found three cryptic intronic splice variants (one known and two experimentally verified) that completed the molecular diagnosis of CF in 6 of 14 individuals. CryptSplice interrogation of sequence data from six individuals with X-linked dyskeratosis congenita caused by an unknown disease-causing variant in DKC1 identified two splice-altering variants that were experimentally verified. To assess the extent to which disease-associated variants might activate cryptic splicing, we selected 458 pathogenic variants and 348 variants of uncertain significance (VUSs) classified as high confidence from ClinVar. Splice-site activation was predicted for 129 (28%) of the pathogenic variants and 75 (22%) of the VUSs. Our findings suggest that cryptic splice-site activation is more common than previously thought and should be routinely considered for all variants within the transcribed regions of genes.

Spartina alterniflora Loisel. plants have been transported across great distances for use in wetland restoration and creation projects. However, little information exists on the geographic genetic structure of S. alterniflora, such as the relatedness of populations within a region and the genetic similarity of imported populations to native populations. A high-resolution tool for assessing genetic similarity and diversity of S. alterniflora populations would be an important step toward understanding these relationships. We optimized a bead beater extraction and amplified fragment length polymorphism (AFLP) protocol for S. alterniflora and evaluated its usefulness in distinguishing plants from adjacent marshes in addition to marshes planted with imported stock. Two primer sets were used in AFLP analysis of four to five plants from each of seven populations. These primer sets generated 372 scoreable loci, of which 235 were polymorphic. High genetic diversity was observed in all populations studied, with nucleotide diversities ranging from 0.0363 to 0.0651. Results from analysis of molecular variance (AMOVA) in this exploratory analysis indicated that intrapopulation genetic diversity was high (59.8% of total variation). The contribution of regional differences was weak. Geographical distances between planting stock origin and native marshes did not correlate with genetic diversity. This study demonstrated the procedure could be used to rapidly and reproducibly generate high-resolution genetic profiles of individual plants. The data produced with this method will be used to further our understanding of the structure of S. alterniflora communities and their function in salt marshes.