Impact of genome build on RNA-seq interpretation and diagnostics.

Transcriptomics is a powerful tool for unraveling the molecular effects of genetic variants and disease diagnosis. Prior studies have demonstrated that choice of genome build impacts variant interpretation and diagnostic yield for genomic analyses. To identify the extent genome build also impacts transcriptomics analyses, we studied the effect of the hg19, hg38, and CHM13 genome builds on expression quantification and outlier detection in 386 rare disease and familial control samples from both the Undiagnosed Diseases Network and Genomics Research to Elucidate the Genetics of Rare Disease Consortium.

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

Purpose: The function of FAM177A1 and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1 to be a critical immune-associated gene. One previous case study has linked FAM177A1 to a neurodevelopmental disorder in 4 siblings.

Increasing equity in science requires better ethics training: A course by trainees, for trainees.

Despite the profound impacts of scientific research, few scientists have received the necessary training to productively discuss the ethical and societal implications of their work. To address this critical gap, we-a group of predominantly human genetics trainees-developed a course on genetics, ethics, and society. We intend for this course to serve as a template for other institutions and scientific disciplines.

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.

Rare structural variants (SVs) - insertions, deletions, and complex rearrangements - can cause Mendelian disease, yet they remain difficult to accurately detect and interpret. We sequenced and analyzed Oxford Nanopore long-read genomes of 68 individuals from the Undiagnosed Disease Network (UDN) with no previously identified diagnostic mutations from short-read sequencing. Using our optimized SV detection pipelines and 571 control long-read genomes, we detected 716 long-read rare (MAF < 0.

Impact of genome build on RNA-seq interpretation and diagnostics.

Transcriptomics is a powerful tool for unraveling the molecular effects of genetic variants and disease diagnosis. Prior studies have demonstrated that choice of genome build impacts variant interpretation and diagnostic yield for genomic analyses. To identify the extent genome build also impacts transcriptomics analyses, we studied the effect of the hg19, hg38, and CHM13 genome builds on expression quantification and outlier detection in 386 rare disease and familial control samples from both the Undiagnosed Diseases Network (UDN) and Genomics Research to Elucidate the Genetics of Rare Disease (GREGoR) Consortium.

Burdens of infection control on healthcare workers: a scoping review.

Introduction: Hospital-acquired infections (HAIs) pose a significant risk to patients, and are a major focus of infection prevention and control policies (IPC). One under-recognized reason for the generally poor compliance with IPC is that it is burdensome for healthcare workers (HCWs).

Aim: To identify the burdens of IPC for HCWs.

Transcriptomics and chromatin accessibility in multiple African population samples.

Mapping the functional human genome and impact of genetic variants is often limited to European-descendent population samples. To aid in overcoming this limitation, we measured gene expression using RNA sequencing in lymphoblastoid cell lines (LCLs) from 599 individuals from six African populations to identify novel transcripts including those not represented in the hg38 reference genome. We used whole genomes from the 1000 Genomes Project and 164 Maasai individuals to identify 8,881 expression and 6,949 splicing quantitative trait loci (eQTLs/sQTLs), and 2,611 structural variants associated with gene expression (SV-eQTLs).

Older Adults' Experiences in a Web-Based Intervention for Loneliness.

Older adults may be vulnerable to loneliness due to natural and age-related transitions. Lonely older adults are at an increased risk of adverse health outcomes due to their loneliness, including cognitive decline, cardiovascular disease, and mortality. The purpose of this study was to explore the experiences of vulnerable older adults in a web-based loneliness intervention.

The impact of COVID-19 on older adults: Results from an annual survey.

Objectives: Assess well-being among older adults through secondary analysis measured during an annual survey in 2018, 2019, and 2020, to determine trends from before and during the COVID-19 pandemic.

Methods: Mailed surveys sent annually included measures related to various psychosocial factors.

Main Findings: Response rates were 29% in 2018, 25% in 2019, and 24% in 2020.

Older Adult Caregivers' Experiences in an Online, Interactive Mindfulness Intervention.

Background: While today's older adults experience longevity, they often manage several chronic conditions and increasingly serve as informal caregivers for aging parents, children with life-long disabilities, and spouses. Older adult caregivers managing personal chronic illness often experience significant psychosocial hardships.

Objective: The primary purpose of this study was to explore the experiences of older adult caregivers in an online, interactive mindfulness intervention.

Robotic Pet Use Among Community-Dwelling Older Adults.

Objective: The primary purpose of this study was to explore the efficacy of robotic pets in alleviating loneliness for older adults.

Method: Self-reported lonely individuals with AARP Medicare Supplement plans insured by UnitedHealthcare who participated in a program with a robotic pet (n = 20) were recruited to participate in semi-structured interviews. Participants were asked to provide feedback about their experiences interacting with a robotic pet, their perceptions about the potential impact on loneliness, and recommendations for improving the program.

Reducing loneliness and improving well-being among older adults with animatronic pets.

Background: Studies consistently demonstrate that older adults who are lonely have higher rates of depression and increased mortality risk. Pet ownership may be a solution for loneliness; however, challenges related to pet ownership exist for older adults. Therefore, researchers and practitioners are examining the use of animatronic pets to reduce loneliness.

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome caused by germline mutations in telomere biology genes. Patients have extremely short telomeres for their age and a complex phenotype including oral leukoplakia, abnormal skin pigmentation, and dysplastic nails in addition to bone marrow failure, pulmonary fibrosis, stenosis of the esophagus, lacrimal ducts and urethra, developmental anomalies, and high risk of cancer. We evaluated a patient with features of DC, mood dysregulation, diabetes, and lack of pubertal development.

Monte Carlo simulations of NaI(Tl) spectra for measurements of semi-infinite plumes.

For the past 10 y Health Canada has operated a Fixed Point Surveillance Network of NaI(Tl) detectors across Canada. Deployed for both emergency response and daily monitoring of airborne radiation in the environment, a spectral stripping method allowed measurement of certain isotopes well below the ambient dose rate. These include (133)Xe, (135)Xe and (41)Ar, typical of emissions from operating nuclear reactors.

Nuclear event zero-time calculation and uncertainty evaluation.

It is important to know the initial time, or zero-time, of a nuclear event such as a nuclear weapon's test, a nuclear power plant accident or a nuclear terrorist attack (e.g. with an improvised nuclear device, IND).

Radiostrontium and radium analysis in low-level environmental samples following a multi-stage semi-automated chromatographic sequential separation.

Strontium isotopes, (89)Sr and (90)Sr, and (226)Ra being radiotoxic when ingested, are routinely monitored in milk and drinking water samples collected from different regions in Canada. In order to monitor environmental levels of activity, a novel semi-automated sensitive method has been developed at the Radiation Protection Bureau of Health Canada (Ottawa, Canada). This method allows the separation and quantification of both (89)Sr and (90)Sr and has also been adapted to quantify (226)Ra during the same sample preparation procedure.

Machine learning for radioxenon event classification for the Comprehensive Nuclear-Test-Ban Treaty.

A method of weapon detection for the Comprehensive nuclear-Test-Ban-Treaty (CTBT) consists of monitoring the amount of radioxenon in the atmosphere by measuring and sampling the activity concentration of (131m)Xe, (133)Xe, (133m)Xe, and (135)Xe by radionuclide monitoring. Several explosion samples were simulated based on real data since the measured data of this type is quite rare. These data sets consisted of different circumstances of a nuclear explosion, and are used as training data sets to establish an effective classification model employing state-of-the-art technologies in machine learning.

Increased environmental gamma-ray dose rate during precipitation: a strong correlation with contributing air mass.

It has long been observed that the environmental gamma-ray dose rate increases noticeably during precipitation intervals. This increase, due to the presence of radon progeny in the rain droplets (or snow flakes), can affect the reliability of the monitoring of artificial radioactivity and long term estimates of exposure to ambient natural radionuclides in surveillance network. Predicting the amplitude of the dose increase has been shown to be surprisingly challenging.

Measurement and modelling of radioxenon plumes in the Ottawa Valley.

Since 2001 a real-time radiation monitoring network of Canadian nuclear facilities and major population centres has been implemented for response to nuclear incidents including a possible terrorist attack. Unshielded NaI(Tl) spectroscopic detectors are employed to measure gamma radiation from airborne radioactivity and radioactivity deposited on the ground. These detectors are composed of a standard 3''x3'' cylindrical NaI(Tl) spectrometers with data storage and integrated telemetry.

Automated radioxenon monitoring for the comprehensive nuclear-test-ban treaty in two distinctive locations: Ottawa and Tahiti.

In preparation for verification of the Comprehensive Nuclear-Test-Ban-Treaty, automated radioxenon monitoring is performed in two distinctive environments: Ottawa and Tahiti. These sites are monitored with SPALAX (Systeme de Prelevement d'air Automatique en Ligne avec l'Analyse des radioXenons) technology, which automatically extracts radioxenon from the atmosphere and measures the activity concentrations of (131m,133m,133,135)Xe. The resulting isotopic concentrations can be useful to discern nuclear explosions from nuclear industry xenon emissions.

Low level noble gas measurements in the field and laboratory in support of the Comprehensive Nuclear-Test-Ban Treaty.

Over 300 daily environmental radioxenon samples were analyzed using French developed SPALAX for automatic sample preparation including high-resolution gamma-spectrometry. The 133Xe sensitivity was significantly better than 1 mBq/m3 (specified criterion for Comprehensive Nuclear-Test-Ban Treaty verification). Radioxenon analysis was extended to include the X-ray region by improved detector window, sample cell design, efficiency calibration, line shape fitting and background analysis.

International Training and Research in Central and Eastern Europe: The University of Iowa model.

In 1995, with support from the Fogarty International Center of the National Institutes of Health, The Center for International Rural and Environmental Health (CIREH) at The University of Iowa began developing the multi-level International Training and Research Program in Occupational and Environmental Health, focusing on countries in Central and Eastern Europe that were formerly under socialist control and have particular occupational and environmental health needs after decades of neglect and mismanagement. The purpose of the program is to prepare health science professionals to return to their home countries with new skills, added confidence, and leadership capabilities in public health to lead their colleagues and institutions in meeting the needs in their respective countries and establish active national and international networks and collaborations. By December 1998, 19 trainees had completed the five-month program and returned home to conduct workshops for others in their countries.

Mouth leak with nasal continuous positive airway pressure increases nasal airway resistance.

Nasal congestion, dry nose and throat, and sore throat affect approximately 40% of patients using nasal continuous positive airway pressure (CPAP). The mechanisms causing nasal symptoms are unclear, but mouth leaks causing high unidirectional nasal airflow may be important. We conducted a study to investigate the effects of mouth leak and the influence of humidification on nasal resistance in normal subjects.

Articular cartilage and intervertebral disc proteoglycans differ in structure: an electron microscopic study.

Articular cartilage and the intervertebral disc tissues have different material and biological properties and different patterns of aging and degeneration. To determine if the proteoglycans of these tissues differ in structure, we used the electron microscopic monolayer technique to compare baboon articular cartilage proteoglycans with baboon annulus fibrosus, transition zone, and nucleus pulposus proteoglycans. Intervertebral disc and articular cartilage proteoglycans differed significantly.

Changes in proteoglycan aggregates during cartilage mineralization.

The dimensions of proteoglycan aggregates, aggregated monomers, and nonaggregated monomers, and the proportion of aggregated monomers found in the different zones of bovine rib growth plate have been defined by the electron microscopic monolayer technique. Growth plates were divided into the following 1 mm thick transverse slices; the hypertrophic zone, the lower proliferative zone, the upper proliferative zone, a transitional zone, and epiphyseal cartilage. Proteoglycans prepared by associative extraction followed by equilibrium density gradient centrifugation under associative conditions were examined by electron microscopy.