Twice-Weekly Outpatient Rehabilitation Intervention for Young Children With Spinal Muscular Atrophy Treated With Genetic-Based Therapies: Protocol for a Feasibility Study.

Background: Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder that causes muscle weakness and is the leading genetic cause of infant mortality worldwide. While no definitive cure exists, the approval of 3 genetic-based therapies in Canada since 2018 has led to significant improvements in muscle function for children with SMA. With that, there are no evidence-based rehabilitation interventions and minimal evidence on the combined effects of genetic-based therapies and rehabilitation.

Tough transitions: Family caregiver experiences with a pediatric long-term ventilation discharge pathway.

Objectives: Discharging a child home on long-term ventilation (LTV) via tracheostomy is complex and involves multiple healthcare providers across healthcare sectors. To date, there has been a paucity of data with respect to the experiences of families transitioning a child home on LTV. Our objective was to explore the perceptions of family caregivers (FCs) who have completed a newly developed LTV discharge pathway as they transitioned home.

Association Analysis of a Microsatellite Repeat in the Gene With Prostate Cancer Risk, Aggressiveness and Survival.

With an estimated 1.1 million men worldwide diagnosed with prostate cancer yearly, effective and more specific biomarkers for early diagnosis could lead to better patient outcome. As such, novel genetic markers are sought for this purpose.

Children with medical complexities: Addressing the gaps in respite care during transition from paediatrics to adult health care in Ontario.

Respite care is one integral component of the transition process from paediatric to adult health care, and is of particular importance to individuals with medical complexities. Numerous gaps that exist within the current system limit a child and family's ability to access quality respite care during a time when it is often most needed. Identifying and addressing these gaps in a systematic and collaborative way presents an opportunity to improve the quality of life for this vulnerable, ever growing population and their families.

A microsatellite repeat in PCA3 long non-coding RNA is associated with prostate cancer risk and aggressiveness.

Short tandem repeats (STRs) are repetitive sequences of a polymorphic stretch of two to six nucleotides. We hypothesized that STRs are associated with prostate cancer development and/or progression. We undertook RNA sequencing analysis of prostate tumors and adjacent non-malignant cells to identify polymorphic STRs that are readily expressed in these cells.

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Clinical mutation screening of the cancer susceptibility genes BRCA1 and BRCA2 generates many unclassified variants (UVs). Most of these UVs are either rare missense substitutions or nucleotide substitutions near the splice junctions of the protein coding exons. Previously, we developed a quantitative method for evaluation of BRCA gene UVs-the "integrated evaluation"-that combines a sequence analysis-based prior probability of pathogenicity with patient and/or tumor observational data to arrive at a posterior probability of pathogenicity.

Fusion transcript loci share many genomic features with non-fusion loci.

Background: Fusion transcripts are found in many tissues and have the potential to create novel functional products. Here, we investigate the genomic sequences around fusion junctions to better understand the transcriptional mechanisms mediating fusion transcription/splicing. We analyzed data from prostate (cancer) cells as previous studies have shown extensively that these cells readily undergo fusion transcription.

Chronic Pain Assessment Tools for Cerebral Palsy: A Systematic Review.

Background And Objective: Chronic pain in children with cerebral palsy (CP) is underrecognized, leading to detriments in their physical, social, and mental well-being. Our objective was to identify, describe, and critique pediatric chronic pain assessment tools and make recommendations for clinical use for children with CP. Secondly, develop an evidence-informed toolbox to support clinicians in the assessment of chronic pain in children with disabilities.

How long does it take to initiate a child on long-term invasive ventilation? Results from a Canadian pediatric home ventilation program.

Objective: To assess the length of stay required to initiate long-term invasive ventilation at the authors' institution, which would inform future interventional strategies to streamline the in-hospital stay for these families.

Methods: A retrospective chart review of children initiated on invasive long-term ventilation via tracheostomy at the authors' acute care centre between January 2005 and December 2013 was performed.

Results: Thirty-five children were initiated on long-term invasive ventilation via tracheostomy at the acute care hospital; 19 (54%) were male.

Factors impacting same-day cancellation of outpatient pediatric magnetic resonance imaging under anesthesia.

Background: Studies of elective surgical procedures indicate that cancellation is common and preventable. Little is known about cancellation of anesthesia-supported elective diagnostic imaging.

Objective: To describe the reasons for same-day cancellation of MRI studies performed under sedation or anesthesia and identify patient characteristics associated with cancellations.

Nucleotide binding to the human multidrug resistance protein 3, MRP3.

We used a spin-labeled ATP analog, SL-ATP, to study nucleotide binding to highly purified human multidrug resistance protein 3, MRP3, which had been expressed in the yeast Pichia pastoris. SL-ATP was shown to be a good substrate analog and is hydrolyzed by MRP3 at about 10% of the Vmax for normal ATP. ESR titrations showed that 2 mol of SL-ATP readily bound per mole of MRP3 with a dissociation constant of about 100 microM in the presence of Mg(2+) ions.

Conformational changes in the Escherichia coli ATP synthase b-dimer upon binding to F(1)-ATPase.

Conformational changes within the subunit b-dimer of the E. coli ATP synthase occur upon binding to the F(1) sector. ESR spectra of spin-labeled b at room temperature indicated a pivotal point in the b-structure at residue 62.