Home Sweet Home: A Program Report on Promoting the Uptake of Home Dialysis.

Purpose Of Program: Canada's growing prevalence of people with kidney failure receiving kidney replacement therapy has necessitated the expansion of dialysis programs. Although facility-based hemodialysis is the predominant dialysis modality in Canada, it is substantially costlier than home dialysis (peritoneal or home hemodialysis). Initiatives to increase the uptake of home dialysis typically consist of didactic and experiential education.

Impact of Ramadan fasting on kidney function and related outcomes in chronic kidney disease and kidney transplant recipients: a systematic review and meta-analysis.

Objectives: Ramadan fasting is an Islamic religious practice involving abstinence from food and drink from dawn to sunset. Its consequences on kidney-relevant outcomes in patients with chronic kidney disease (CKD) and kidney transplant recipients remain unclear.

Design: Systematic review and meta-analysis.

Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings.

Homo sapiens and Neanderthals underwent hybridization during the Middle/Upper Paleolithic age, culminating in retention of small amounts of Neanderthal-derived DNA in the modern human genome. In the current study, we address the potential roles Neanderthal single nucleotide polymorphisms (SNP) may be playing in autism susceptibility in samples of black non-Hispanic, white Hispanic, and white non-Hispanic people using data from the Simons Foundation Powering Autism Research (SPARK), Genotype-Tissue Expression (GTEx), and 1000 Genomes (1000G) databases. We have discovered that rare variants are significantly enriched in autistic probands compared to race-matched controls.

Exploring the Impact of In Basket Metrics on the Adoption of a New Electronic Health Record System Among Specialists in a Tertiary Hospital in Alberta: Descriptive Study.

Background: Health care organizations implement electronic health record (EHR) systems with the expectation of improved patient care and enhanced provider performance. However, while these technologies hold the potential to create improved care and system efficiencies, they can also lead to unintended negative consequences, such as patient safety issues, communication problems, and provider burnout.

Objective: This study aims to document metrics related to the In Basket communication hub (time in In Basket per day, time in In Basket per appointment, In Basket messages received per day, and turnaround time) of the EHR system implemented by Alberta Health Services, the province-wide health delivery system called Connect Care (Epic Systems).

Simplified detection of genetic background admixture using artificial intelligence.

Admixture refers to the mixing of genetic ancestry from different populations. Admixture is important for genomic medicine because it can affect how an individual responds to certain medications, how they metabolize drugs, and susceptibility to certain diseases. For example, some genetic variants associated with drug metabolism and response may be more common in certain populations, and individuals with admixed ancestry may have a different frequency of these variants than individuals from the ancestral populations.

The impact of the Starting dialysis on Time, At home on the Right Therapy (START) project on the use of peritoneal dialysis.

Background: Peritoneal dialysis (PD) is actively promoted, but increasing PD utilisation is difficult. The objective of this study was to determine if the Starting dialysis on Time, At Home, on the Right Therapy (START) project was associated with an increase in the proportion of dialysis patients receiving PD within 6 months of starting therapy.

Methods: Consecutive patients over age 18, with end-stage kidney failure, who started dialysis between 1 April 2015 and 31 March 2018 in the province of Alberta, Canada.

The Association of Intra-Abdominal Adhesions with Peritoneal Dialysis Catheter-Related Complications.

Background: This study investigated the association of intra-abdominal adhesions with the risk of peritoneal dialysis (PD) catheter complications.

Methods: Individuals undergoing laparoscopic PD catheter insertion were prospectively enrolled from eight centers in Canada and the United States. Patients were grouped based on the presence of adhesions observed during catheter insertion.

Patient Training and Patient Safety in Home Hemodialysis.

The success of a home hemodialysis program depends largely on a patient safety framework and the risk tolerance of a home dialysis program. Dialysis treatments require operators to perform dozens of steps repeatedly and reliably in a complex procedure. For home hemodialysis, those operators are patients themselves or their care partners, so attention to safety and risk mitigation is front of mind.

Electronic patient-reported outcomes in clinical kidney practice (ePRO Kidney): a process evaluation of educational support for clinicians.

Background: Patient-reported outcomes (PROs) are increasingly mandated in kidney care to incorporate patients' perspectives.

Objectives: We assessed whether educational support for clinicians using electronic (e)PROs could enhance person-centered care.

Design: A process evaluation, using a mixed methods longitudinal comparative concurrent design was undertaken of educational support to clinicians on routine use of ePROs.

Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.

Phelan-McDermid Syndrome (PMS) is caused by deletions at chromosome 22q13.3 or pathogenic/likely pathogenic SHANK3 variants. The clinical presentation is extremely variable and includes global developmental delay/intellectual disability (ID), seizures, neonatal hypotonia, and sleep disturbances, among others.

Distinct Effects of Methamphetamine Isomers on Limbic Norepinephrine and Dopamine Transmission in the Rat Brain.

Methamphetamine (METH) is a psychostimulant that primarily exerts its effects on the catecholamine (dopamine (DA) and norepinephrine (NE)) systems, which are implicated in drug addiction. METH exists as two distinct enantiomers, dextrorotatory (d) and levorotatory (l). In contrast to d-METH, the major component of illicit METH used to induce states of euphoria and alertness, l-METH is available without prescription as a nasal decongestant and has been highlighted as a potential agonist replacement therapy to treat stimulant use disorder.

Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.

Mosaic variants in the PIK3CA gene, encoding the catalytic subunit of phosphoinositide 3-kinase (PI3K), produce constitutive PI3K activation, which causes PIK3CA-related overgrowth spectrum disorders. To date, fewer than 20 patients have been described with germline alterations in PIK3CA. In this study, we describe three unrelated individuals with overgrowth and germline PIK3CA variants.

Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.

Molecular profiling of childhood CNS tumors is critical for diagnosis and clinical management, yet tissue access is restricted due to the sensitive tumor location. We developed a targeted deep sequencing platform to detect tumor driver mutations, copy number variations, and heterogeneity in the liquid biome. Here, we present the sensitivity, specificity, and clinical relevance of our minimally invasive platform for tumor mutation profiling in children diagnosed with CNS cancer.

Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with significantly different allele distributions between ASD-affected and control.

Identification of condition-specific regulatory mechanisms in normal and cancerous human lung tissue.

Background: Lung cancer is the leading cause of cancer death in both men and women. The most common lung cancer subtype is non-small cell lung carcinoma (NSCLC) comprising about 85% of all cases. NSCLC can be further divided into three subtypes: adenocarcinoma (LUAD), squamous cell carcinoma (LUSC), and large cell lung carcinoma.

A new test for autism spectrum disorder: Metabolic data from different cell types.

Experiments employing the Phenotype Mammalian Microarray (PM-M) technology were performed on lymphoblastoid cell lines (LCLs) from individuals with autism spectrum disorder (ASD) and age-matched controls. We used the custom-made PM-M plate designed to assess differential utilization of the amino acid tryptophan. Multiple parameters such as the sample size, incubation time, and cell concentration have been tested, leading to optimized protocols and minimized background noise by variable selection while controlling for false discoveries.

Identification of condition-specific biomarker systems in uterine cancer.

Uterine cancer is the fourth most common cancer among women, projected to affect 66,000 US women in 2021. Uterine cancer often arises in the inner lining of the uterus, known as the endometrium, but can present as several different types of cancer, including endometrioid cancer, serous adenocarcinoma, and uterine carcinosarcoma. Previous studies have analyzed the genetic changes between normal and cancerous uterine tissue to identify specific genes of interest, including TP53 and PTEN.

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.

Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities (e.g.

Starting Dialysis on Time, At Home on the Right Therapy (START): Description of an Intervention to Increase the Safe and Effective Use of Peritoneal Dialysis.

Background: Most of the patients with end-stage kidney failure are treated with dialysis. Jurisdictions around the world are actively promoting peritoneal dialysis (PD) because it is equivalent to hemodialysis in terms of clinical outcomes, but is less costly. Unfortunately, PD penetration remains low.

Named Data Networking for Genomics Data Management and Integrated Workflows.

Advanced imaging and DNA sequencing technologies now enable the diverse biology community to routinely generate and analyze terabytes of high resolution biological data. The community is rapidly heading toward the petascale in single investigator laboratory settings. As evidence, the single NCBI SRA central DNA sequence repository contains over 45 petabytes of biological data.

Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.

SATB2-associated syndrome (SAS) is a multisystemic disorder characterized by developmental delay often with concurrent autistic tendencies. This study aimed to characterize cellular metabolic pathways and energy metabolism from cells derived from individuals with SAS. The cellular production of NADH (nicotinamide adenine dinucleotide, reduced form) as determined by the Phenotype Mammalian MicroArrays was measured in lymphoblastoid cell lines derived from 11 subjects with a molecularly confirmed diagnosis of SAS and compared to a control population of 50 age-matched typically developing individuals.

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Background: Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal long arm of chromosome 22, referred to as 22q13.3 deletion syndrome, including the SHANK3 gene.