Advancing Health Equity: A Collaborative Framework to Address HIV Disparities in Georgia and Louisiana through Data, Education, and Policy Initiatives.

The United States grapples with over 30,000 new HIV infections annually, a challenge exacerbated by delayed diagnosis and treatment. HIV stigma hinders data collection and contributes to health disparities. High-quality data and a community-driven approach are critical to reducing these disparities.

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem.

People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases. These challenges can result in long diagnostic journeys and inadequate care. Over 30 years ago, the Rare Disease Registries for Gaucher, Fabry, Mucopolysaccharidosis type I and Pompe diseases were established to address knowledge gaps in disease natural history, clinical manifestations of disease and treatment outcomes.

Automated Screening to Enhance Proactive Consultation-Liaison Psychiatry Services in Acute Medicine Units: Evaluation of Service Outcomes.

Proactive consultation-liaison (C-L) psychiatry aims to meet the mental health needs of medical-surgical populations-many of which go unmet by the conventional C-L model-through systematic screening and integrated care. We implemented an automated screening list to enhance case identification of an existing proactive C-L service and evaluated service metrics along with clinician- and patient-reported outcomes. Service outcomes were evaluated using historical and contemporary comparison data.

Genomic attributes of airway commensal bacteria and mucosa.

Microbial communities at the airway mucosal barrier are conserved and highly ordered, in likelihood reflecting co-evolution with human host factors. Freed of selection to digest nutrients, the airway microbiome underpins cognate management of mucosal immunity and pathogen resistance. We show here the initial results of systematic culture and whole-genome sequencing of the thoracic airway bacteria, identifying 52 novel species amongst 126 organisms that constitute 75% of commensals typically present in heathy individuals.

Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency.

Background: Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinase. Olipudase alfa, an enzyme replacement therapy, was recently approved in several countries for the treatment of the non-neurologic manifestations of ASMD. Studies demonstrate improvement in organomegaly, pulmonary function and lipid profiles with olipudase alfa, yet little is known about its impact on quality of life (QoL) for patients and caregivers.

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).

Background: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There are no published national or international consensus guidelines for the diagnosis and management of patients with ASMD.

Health insurance literacy and health services access barriers in Niemann-Pick disease: the patient and caregiver voice.

Background: Major challenges to health care access include low health insurance literacy, prohibitive costs, and insurance barriers. Niemann-Pick disease (NPD), comprising acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C (NPC), is a group of rare, autosomal recessive, highly heterogeneous, neurovisceral, life-threatening, relentlessly progressive lysosomal disorders. Patients experience debilitating systemic and neurological symptoms and substantial emotional and financial stress.

Vitamin D and COVID-19-Revisited.

Vitamin D, when activated to 1,25-dihydroxyvitamin D, is a steroid hormone that induces responses in several hundred genes, including many involved in immune responses to infection. Without supplementation, people living in temperate zones commonly become deficient in the precursor form of vitamin D, 25-hydroxyvitamin D, during winter, as do people who receive less sunlight exposure or those with darker skin pigmentation. Studies performed pre-COVID-19 have shown significant but modest reduction in upper respiratory infections in people receiving regular daily vitamin D supplementation.

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective.

Acid sphingomyelinase deficiency (ASMD), historically known as Niemann-Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes. Little is known about how ASMD symptoms affect the lives of patients and their caregivers. In a cross-sectional qualitative study conducted in the US and UK, and in collaboration with the National Niemann-Pick Disease Foundation (US) and Niemann-Pick UK, we investigated the symptom experience of patients with ASMD types B and A/B and explored how the disease impacts their and their caregivers' lives.

Proactive Integration of Mental Health Care in Hospital Medicine: PRIME Medicine.

Background: Proactive consultation-liaison (C-L) psychiatry has been shown to reduce hospital length of stay (LOS), increase psychiatric C-L consult rate, and improve hospital staff satisfaction. Nursing attrition has not been studied in relation to proactive C-L.

Objective: Our primary aim in evaluating the proactive C-L service called Proactive Integration of Mental Health Care in Medicine (PRIME Medicine) is to analyze change in LOS over 10 months using historical and contemporary comparison cohorts.

Perspective: Vitamin D supplementation prevents rickets and acute respiratory infections when given as daily maintenance but not as intermittent bolus: implications for COVID-19.

The value of vitamin D supplementation in the treatment or prevention of various conditions is often viewed with scepticism as a result of contradictory results of randomised trials. It is now becoming apparent that there is a pattern to these inconsistencies. A recent large trial has shown that high-dose intermittent bolus vitamin D therapy is ineffective at preventing rickets - the condition that is most unequivocally caused by vitamin D deficiency.

Vitamin D and COVID-19: evidence and recommendations for supplementation.

Vitamin D is a hormone that acts on many genes expressed by immune cells. Evidence linking vitamin D deficiency with COVID-19 severity is circumstantial but considerable-links with ethnicity, obesity, institutionalization; latitude and ultraviolet exposure; increased lung damage in experimental models; associations with COVID-19 severity in hospitalized patients. Vitamin D deficiency is common but readily preventable by supplementation that is very safe and cheap.

Preventing vitamin D deficiency during the COVID-19 pandemic: UK definitions of vitamin D sufficiency and recommended supplement dose are set too low.

There is growing evidence linking vitamin D deficiency with risk of COVID-19. It is therefore distressing that there is major disagreement about the optimal serum level for 25-hydroxyvitamin D (25(OH)D) and appropriate supplement dose. The UK Scientific Advisory Committee for Nutrition has set the lowest level for defining sufficiency (10 ng/ml or 25 nmol/L) of any national advisory body or scientific society and consequently recommends supplementation with 10 micrograms (400 IU) per day.

An epigenome-wide association study of total serum IgE in Hispanic children.

Background: Total IgE is a therapeutic target in patients with allergic diseases. DNA methylation in white blood cells (WBCs) was associated with total IgE levels in an epigenome-wide association study of white subjects. Whether DNA methylation of eosinophils explains these findings is insufficiently understood.

Human Rabies - Wyoming and Utah, 2015.

In September 2015, a Wyoming woman was admitted to a local hospital with a 5-day history of progressive weakness, ataxia, dysarthria, and dysphagia. Because of respiratory failure, she was transferred to a referral hospital in Utah, where she developed progressive encephalitis. On day 8 of hospitalization, the patient's family told clinicians they recalled that, 1 month before admission, the woman had found a bat on her neck upon waking, but had not sought medical care.

Laryngeal Desiccation Challenge and Nebulized Isotonic Saline in Healthy Male Singers and Nonsingers: Effects on Acoustic, Aerodynamic, and Self-Perceived Effort and Dryness Measures.

Objectives: This study examined the effects of a laryngeal desiccation challenge and nebulized isotonic saline on voice production in young, healthy male singers and nonsingers.

Study Design: This is a prospective, double-blind, within-subjects experimental design.

Methods: Participants included 10 male university-trained singers and 10 age-matched nonsingers (mean age, 21.

Prolonged Exposure Dermatosis: Reporting High Incidence of an Undiagnosed Facial Dermatosis on a Winter Wilderness Expedition.

Objective: Previously unclassified inflammatory skin lesions referred to as sun bumps have been observed throughout the year on participants of wilderness trips; however, the underlying cause and diagnosis remain unclear. The purpose of this prospective observational study was to document the incidence, characteristics, and risk factors associated with these skin lesions as they occurred on a winter wilderness expedition.

Methods: For this study, the lesions were defined as pruritic or erythematous skin lesions occurring while in the wilderness.

An epigenome-wide association study of total serum immunoglobulin E concentration.

Immunoglobulin E (IgE) is a central mediator of allergic (atopic) inflammation. Therapies directed against IgE can alleviate hay fever and allergic asthma. Genetic association studies have not yet identified novel therapeutic targets or pathways underlying IgE regulation.

The politics of Piketty: what political science can learn from, and contribute to, the debate on Capital in the twenty-first century.

Thomas Piketty's imposing volume has brought serious economics firmly into the mainstream of public debate on inequality, yet political science has been mostly absent from this debate. This article argues that political science has an essential contribution to make to this debate, and that Piketty's important and powerful book lacks a clear political theory. It develops this argument by first assessing and critiquing the changing nature of political science and its account of contemporary capitalism, and then suggesting how Piketty's thesis can be complemented, extended and challenged by focusing on the ways in which politics and collective action shape the economy and the distribution of income and wealth.

The effects of emotional expression on vibrato.

Objectives/hypothesis: The purpose of this study was to investigate the effect of emotional expression on several acoustic measures of vibrato, including its rate, extent, and steadiness. We hypothesized that singing a passage with emotional content would influence these variables.

Study Design: This study used a within-subjects, repeated-measures design.

Development of pre-clinical models for evaluating the therapeutic potential of candidate siRNA targeting STAT6.

Developing siRNA therapeutics poses technical challenges including appropriate molecular design and testing in suitable pre-clinical models. We previously detailed sequence-selection and modification strategies for siRNA candidates targeting STAT6. Here, we describe methodology that evaluates the suitability of candidate siRNA for respiratory administration.

Interactive effect of STAT6 and IL13 gene polymorphisms on eczema status: results from a longitudinal and a cross-sectional study.

Background: Eczema is a prevalent skin disease that is mainly characterized by systemic deviation of immune response and defective epidermal barrier. Th2 cytokines, such as IL-13 and transcription factor STAT6 are key elements in the inflammatory response that characterize allergic disorders, including eczema. Previous genetic association studies showed inconsistent results for the association of single nucleotide polymorphisms (SNPs) with eczema.

Evaluation of nasal epithelium sampling as a tool in the preclinical development of siRNA-based therapeutics for asthma.

The development of siRNA-based asthma therapeutics is currently hampered by a paucity of relevant biomarkers and the need to ascertain tissue-specific gene targeting in the context of active disease. Epithelial STAT6 expression is fundamental to asthma pathogenesis in which inflammatory changes are found throughout the respiratory tract. Therefore, to improve preclinical evaluation, we tested the efficacy of STAT6-targeting siRNA within nasal epithelial cells (NEC's) obtained from asthmatic and non-asthmatic donors.