Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia.

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated plasma low-density lipoprotein cholesterol and accelerated atherosclerosis. Accurate identification of patients with HoFH is essential as they may be eligible for specialized treatments. We hypothesized that a subset of patients with clinically diagnosed heterozygous FH (HeFH) may in fact have HoFH, and this could be identified by genetic diagnosis.

Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction.

Spontaneous coronary artery dissection (SCAD) is a non-atherosclerotic cause of myocardial infarction (MI), typically in young women. We undertook a genome-wide association study of SCAD (N = 270/N = 5,263) and identified and replicated an association of rs12740679 at chromosome 1q21.2 (P = 2.

Ascertainment Bias in the Association Between Elevated Lipoprotein(a) and Familial Hypercholesterolemia.

Background: Lipoprotein(a) is an atherogenic low-density lipoprotein-like particle and circulating levels are largely determined by genetics. Patients with familial hypercholesterolemia (FH) have elevated lipoprotein(a); however, it remains unclear why.

Objectives: This study compared the levels of lipoprotein(a) and associated genetic factors between individuals that were ascertained for FH clinically versus genetically.

Reporting on patients living with HIV "disengaging from care". Who is actually "lost to follow-up"?

Retention in care remains an important concern for health care providers. However, accurately identifying who is or is not retained in care can be problematic. Not all patients believed to be engaged in care are actually in care, and not all patients believed to be disengaged are truly disengaged.

Dental Students' Intent to Practice in Rural Communities Before and After Community-Based Rotations in a Rural Area.

Community-based dental education (CBDE) has the potential to positively impact the educational process in a manner that both contributes to educational outcomes and shapes the learner's behavior. The aim of this study was to determine the correlation between dental students' intended practice location and the size of their hometown and to assess any impact their CBDE rotation in a rural location had on practice location intention. From March 7, 2016, to August 12, 2018, fourth-year students at one U.

Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia.

Background: A pathogenic variant in LDLR, APOB, or PCSK9 can be identified in 30% to 80% of patients with clinically-diagnosed familial hypercholesterolemia (FH). Alternatively, ∼20% of clinical FH is thought to have a polygenic cause. The cardiovascular disease (CVD) risk associated with polygenic versus monogenic FH is unclear.

In-Service Education: Evolving Internationally to Meet Nurses' Lifelong Learning Needs.

In-service education (ISE) in nursing is teaching that occurs in the workplace. Internationally, ISE activities have been evident in nursing for many years because it has been seen as a convenient and cost-effective way to deliver education to nurses with minimal disruption to staffing levels and the delivery of patient care. ISE-related literature was sought to address the aim of tracing development and focus of nursing ISE in New Zealand.

Generation of Native Chromatin Immunoprecipitation Sequencing Libraries for Nucleosome Density Analysis.

We present a modified native chromatin immunoprecipitation sequencing (ChIP-seq) experimental protocol compatible with a Gaussian mixture distribution based analysis methodology (nucleosome density ChIP-seq; ndChIP-seq) that enables the generation of combined measurements of micrococcal nuclease (MNase) accessibility with histone modification genome-wide. Nucleosome position and local density, and the posttranslational modification of their histone subunits, act in concert to regulate local transcription states. Combinatorial measurements of nucleosome accessibility with histone modification generated by ndChIP-seq allows for the simultaneous interrogation of these features.

Lactation Skills Workshop: A Collaboration of the City of Dallas WIC and Local Hospitals.

The Baby-Friendly Hospital Initiative, a global endeavor of the World Health Organization and the United Nations Children's Fund, is an evidence-based program identifying 10 interventions that when hospitals implement them, breastfeeding (BF) rates improve. It recognizes the powerful role that health care workers have in successful BF and the need for competent hands-on skills to support lactation. The City of Dallas, TX, Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) program collaborated with 3 urban hospitals and developed a training of practical techniques and information for staff to use while working with BF patients.

Characterization of pathogenic human monoclonal autoantibodies against GM-CSF.

The origin of pathogenic autoantibodies remains unknown. Idiopathic pulmonary alveolar proteinosis is caused by autoantibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF). We generated 19 monoclonal autoantibodies against GM-CSF from six patients with idiopathic pulmonary alveolar proteinosis.

A pilot study comparing ESO-2 capsule endoscopy with conventional upper endoscopy for the assessment of uncomplicated heartburn and dyspepsia.

Background: ESO-2 video capsule endoscopy provides images of the oesophageal mucosa and continues to transmit gastric, and often small bowel images, for up to 30 min. This study compares ESO capsule endoscopy capsule oesophago-gastro-duodenoscopy (Cap-OGD) with conventional endoscopy (OGD).

Methods: 50 outpatients with uncomplicated dyspepsia underwent Cap-OGD followed by OGD which was recorded on DVD.

The Upside of Videogame Playing.

In our research on the relationship between videogame playing and cognitive outcomes we found that children (n=481, 12 year olds) who played videogames more were more creative than those who played them less. Here we summarize these findings and propose new research to identify mediating cognitive factors influenced by videogame playing.

A simplified method for the efficient refolding and purification of recombinant human GM-CSF.

Human granulocyte macrophage colony-stimulating factor (hGM-CSF) is a haematopoietic growth factor and proinflammatory cytokine. Recombinant hGM-CSF is important not only as a research tool but also as a biotherapeutic. However, rhGM-CSF expressed in E.

Optimization and structure-activity relationships of a series of potent inhibitors of methicillin-resistant Staphylococcus aureus (MRSA) pyruvate kinase as novel antimicrobial agents.

A novel series of hydrazones were synthesized and evaluated as inhibitors of methicillin-resistant Staphylococcus aureus (MRSA) pyruvate kinase (PK). PK has been identified as one of the most highly connected 'hub proteins' in MRSA. PK has been shown to be critical for bacterial survival which makes it a potential target for development of novel antibiotics and the high degree of connectivity implies it should be very sensitive to mutations and thus less able to develop resistance.

Cheminformatics-driven discovery of selective, nanomolar inhibitors for staphylococcal pyruvate kinase.

We have recently mapped the protein interaction network of methicillin-resistant Staphylococcus aureus (MRSA), which revealed its scale-free organization with characteristic presence of highly connected hub proteins that are critical for bacterial survival. Here we report the discovery of inhibitors that are highly potent against one such hub target, staphylococcal pyruvate kinase (PK). Importantly, the developed compounds demonstrate complete selectivity for the bacterial enzyme compared to all human orthologues.

Identification of pyruvate kinase in methicillin-resistant Staphylococcus aureus as a novel antimicrobial drug target.

Novel classes of antimicrobials are needed to address the challenge of multidrug-resistant bacteria such as methicillin-resistant Staphylococcus aureus (MRSA). Using the architecture of the MRSA interactome, we identified pyruvate kinase (PK) as a potential novel drug target based upon it being a highly connected, essential hub in the MRSA interactome. Structural modeling, including X-ray crystallography, revealed discrete features of PK in MRSA, which appeared suitable for the selective targeting of the bacterial enzyme.

Mapping the protein interaction network in methicillin-resistant Staphylococcus aureus.

Mortality attributable to infection with methicillin-resistant Staphylococcus aureus (MRSA) has now overtaken the death rate for AIDS in the United States, and advances in research are urgently needed to address this challenge. We report the results of the systematic identification of protein-protein interactions for the hospital-acquired strain MRSA-252. Using a high-throughput pull-down strategy combined with quantitative proteomics to distinguish specific from nonspecific interactors, we identified 13,219 interactions involving 608 MRSA proteins.

Self-concept, self-esteem, gender, race, and information technology use.

This research addressed two fundamental questions regarding self-concept, self-esteem, gender, race, and information technology use. First, is technology use related to dimensions of self-concept and/or to self-esteem? Second, are there gender and/or race differences in self-concept, self-esteem, and technology use? Five hundred youth, average age 12 years old, one third African American and two thirds Caucasian American, completed multidimensional measures of self-concept, the Rosenberg Self-Esteem scale, and measures of frequency of Internet use, Internet use for communication (e-mail and instant messaging), video game playing, and cell phone use. Findings indicated that technology use predicted dimensions of self-concept and self-esteem, with video game playing having a negative influence and Internet use having a positive influence on self-concept dimensions.

Information technology (IT) use and children's psychological well-being.

The relationship between four types of information technology use and eight dimensions of psychological well-being were examined in a sample of 500 African American and Anglo-American girls and boys. Both parent and child ratings of well-being were considered. Findings indicated that greater IT use, but especially greater videogame use, was associated with lower psychological well-being, with one exception: greater Internet use for purposes other than communication was associated with greater psychological well-being.

Race, gender, and information technology use: the new digital divide.

This research examined race and gender differences in the intensity and nature of IT use and whether IT use predicted academic performance. A sample of 515 children (172 African Americans and 343 Caucasian Americans), average age 12 years old, completed surveys as part of their participation in the Children and Technology Project. Findings indicated race and gender differences in the intensity of IT use; African American males were the least intense users of computers and the Internet, and African American females were the most intense users of the Internet.

Cultural differences in morality in the real and virtual worlds: a comparison of Chinese and U.S. youth.

In this research, we examined cultural differences in morality in the real and virtual worlds and the relationship between the two. Approximately 600 Chinese and 600 U.S.