Barth syndrome (BTHS) is an X-linked disorder of mitochondrial phospholipid metabolism caused by pathogenic variants in TAFFAZIN, which results in abnormal cardiolipin (CL) content in the inner mitochondrial membrane. To identify unappreciated pathways of mitochondrial dysfunction in BTHS, we utilized an unbiased proteomics strategy and identified that complex I (CI) of the mitochondrial respiratory chain and the mitochondrial quality control protease presenilin-associated rhomboid-like protein (PARL) are altered in a new HEK293-based tafazzin-deficiency model. Follow-up studies confirmed decreased steady state levels of specific CI subunits and an assembly factor in the absence of tafazzin; this decrease is in part based on decreased transcription and results in reduced CI assembly and function.
View Article and Find Full Text PDFAim: To understand which safe sleep recommendations parents find most challenging to implement, identifying common barriers encountered; and investigate whether challenges are associated with practices employed.
Methods: A cross-sectional survey of 3341 Australian families with young infants who birthed a live baby during April-May 2017. Caregivers were asked about infant care practices and family characteristics.
We have previously established induced pluripotent stem cell (iPSC) models of Huntington's disease (HD), demonstrating CAG-repeat-expansion-dependent cell biological changes and toxicity. However, the current differentiation protocols are cumbersome and time consuming, making preparation of large quantities of cells for biochemical or screening assays difficult. Here, we report the generation of immortalized striatal precursor neurons (ISPNs) with normal (33) and expanded (180) CAG repeats from HD iPSCs, differentiated to a phenotype resembling medium spiny neurons (MSN), as a proof of principle for a more tractable patient-derived cell model.
View Article and Find Full Text PDFLimited data exist on the spatial distribution of the colonic bacteria in humans. We collected the colonic biopsies from five segments of 27 polyp-free adults and collected feces from 13 of them. We sequenced the V4 region of the bacterial 16S rRNA gene using the MiSeq platform.
View Article and Find Full Text PDFObjective: To describe the Military Eating Behavior Survey (MEBS), developed, and validated for use in military populations.
Design: Questionnaire development using a 6-phase approach that included item generation, subject matter expert review, cognitive interviewing, factor analysis, test-retest reliability testing, and parallel forms testing.
Setting: US Army soldiers were surveyed at 8 military bases from 2016 to 2019 (n = 1,561).
Background: HIV rapid diagnostic test (RDT) algorithms have been successfully employed worldwide to accelerate critically important HIV testing. Deviations from the algorithm and processing errors have been associated with inaccurate algorithm results. Positive RDT algorithm results should be confirmed prior to HIV clinic enrollment, but compliance varies.
View Article and Find Full Text PDFNegative body image is more often identified in individuals with overweight or obesity. More than 65% of U.S.
View Article and Find Full Text PDFDurable mechanical circulatory support (dMCS) devices can be offered as a bridge-to-transplant (BTT) or as a bridge-to-candidacy (BTC) strategy for candidates with contraindications to transplant listing, including pulmonary hypertension (BTC-PH), morbid obesity (BTC-Obes), social issues (BTC-Soc), or chronic illness (BTC-Illness). An understanding of the trajectory of BTC patients could guide future triage of advanced heart failure patients who are not candidates for transplantation. We performed a retrospective review all patients who underwent dMCS implantation as either BTT (206 patients) or BTC (114 patients) at our center from January 1, 2010, to March 31, 2020.
View Article and Find Full Text PDFAbundant arc-type magmatic and metamorphic rocks exist on Earth today, which provide insights into the equilibrium state of the subduction process. However, magmatic samples generated during the initial stage of subduction is largely unknown. This hinders our understanding of the subduction initiation process and by inference, the onset of plate tectonics as well as the history of crustal formation.
View Article and Find Full Text PDFBackground: Sarcopenia may hasten the risk of mortality in women with breast cancer. Long-chain omega-3 (n-3) polyunsaturated fatty acids (LCn-3PUFAs) may favor muscle mass which, in turn, could enhance resilience of cancer patients toward cancer treatment.
Objectives: The objective of this study was to measure the relation of erythrocyte LCn-3PUFA concentrations with lean mass, grip strength, and postprandial energy metabolism in women with newly diagnosed breast cancer.
Background: Like endemic coronaviruses, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is believed to have emerged in humans from a zoonotic source and may ultimately develop a seasonal pattern. A seasonal pattern, particularly if combined with other seasonal outbreaks of respiratory virus infections, may have significant impacts on the healthcare system. We evaluated the seasonal pattern of existing endemic coronaviruses and several other common respiratory viruses to determine the potential impacts of added burden of respiratory disease should SARS-CoV-2 establish seasonality.
View Article and Find Full Text PDFBackground: Adult substance use contributes to high rates of child maltreatment, adverse parenting, and poor child well-being outcomes. The Children's Bureau in the Administration for Children and Families, U.S.
View Article and Find Full Text PDFOutdoor air pollution, a spatially and temporally complex mixture, is a human carcinogen. However, ambient measurements may not reflect subject-level exposures, personal monitors do not assess internal dose, and spot assessments of urinary biomarkers may not recapitulate chronic exposures. Nucleophilic sites in serum albumin-particularly the free thiol at Cys-form adducts with electrophiles.
View Article and Find Full Text PDFBackground: Undergraduate nursing programs are required to prepare nursing students to care for people across the lifespan, however due to limited paediatric nursing content in undergraduate nursing curricula and limited paediatric clinical placements, nursing graduates may lack competence and experience in caring for children.
Objectives: The aim of this study was to enhance undergraduate nursing students' work readiness and confidence to care for children by immersing them in a mock paediatric ward experience where students could practice using medical play to communicate and engage with children.
Participants: Participants (n = 22) were undergraduate nursing students recruited across all years from a Bachelor of Nursing program.
The relative positioning of cells is a key feature of the microenvironment that organizes cell-cell interactions. To study the interactions between cells of the same or different type, micropatterning techniques have proved useful. DNA Programmed Assembly of Cells (DPAC) is a micropatterning technique that targets the adhesion of cells to a substrate or other cells using DNA hybridization.
View Article and Find Full Text PDFObjective: To investigate primary infant caregiver awareness of the current national public health safe sleep messages and the associations of awareness with care practices.
Design And Setting: A cross-sectional survey in Queensland, Australia. All families with live babies birthed during April-May 2017 were eligible.
Wilson disease (WD) is caused by inactivation of the copper transporter Atp7b and copper overload in tissues. Mice with Atp7b deleted either globally (systemic inactivation) or only in hepatocyte recapitulate various aspects of human disease. However, their phenotypes vary, and neither the common response to copper overload nor factors contributing to variability are well defined.
View Article and Find Full Text PDFObjective: Examine associations between soldiers' eating behaviors, compliance with body composition and fitness standards, and physical performance.
Design: Cross-sectional study.
Setting: Eight Army installations.
A 4-year-old American Quarter Horse gelding was evaluated for acute non-weight-bearing lameness of the right thoracic limb with swelling in the right shoulder region. Physical examination revealed radial nerve paralysis of unknown etiology. The primary differential diagnosis was musculoskeletal trauma.
View Article and Find Full Text PDFBackground: Dietary supplement (DS) use by Army personnel is high and is a safety and readiness issue.
Objective: Our aim was to examine factors motivating use of DSs among US Army personnel and preferred safety education strategies.
Design: This mixed-method study used a validated DS questionnaire and subsequent focus groups that were formed based on questionnaire-identified demographic characteristics.
Mechanical circulatory support has been performed as a bridge to cardiac retransplantation in selected patients with graft failure. However, there is limited published experience on the use and potential benefit of the total artificial heart (TAH) as a bridge to cardiac retransplantation. We report on our institutional experience with 3 patients that received TAH as a bridge to retransplant, with 1 patient surviving post-retransplantation.
View Article and Find Full Text PDFDroplet libraries consisting of many reagents encapsulated in separate droplets are necessary for applications of microfluidics, including combinatorial chemical synthesis, DNA-encoded libraries, and massively multiplexed PCR. However, existing approaches for generating them are laborious and impractical. Here, we describe an automated approach using a commercial array spotter.
View Article and Find Full Text PDFPatients with Parkinson's disease (PD) can have significant cognitive dysfunction; however, the mechanisms for these cognitive symptoms are unknown. Here, we used scalp electroencephalography (EEG) to investigate the cortical basis for PD-related cognitive impairments during interval timing, which requires participants to estimate temporal intervals of several seconds. Time estimation is an ideal task demand for investigating cognition in PD because it is simple, requires medial frontal cortical areas, and recruits basic executive processes such as working memory and attention.
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