Publications by authors named "Mullin B"

Background: Polycystic ovary syndrome (PCOS) is a complex multifactorial disorder with a substantial genetic component. However, the clinical manifestations of PCOS are heterogeneous with notable differences between lean and obese women, implying a different pathophysiology manifesting in differential body mass index (BMI). We performed a meta-analysis of genome-wide association study (GWAS) data from six well-characterised cohorts, using a case-control study design stratified by BMI, aiming to identify genetic variants associated with lean and overweight/obese PCOS subtypes.

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Objective: This study aimed to identify risk factors for relapse (psychiatric emergency department visits or hospitalization) and lack of follow-up with outpatient psychiatric care in the 12 months after ending services in an urban safety net coordinated specialty care (CSC) program for first episode psychosis (FEP).

Methods: The study population (n = 143) were individuals with FEP who had any CSC care between 2014 and 2021. To identify risk factors for relapse and follow up after exit, multivariable logistic regression was performed using data from electronic health records and linked insurance claims data.

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Objectives: Osteoarthritis (OA) is a joint disease with a heritable component. Genetic loci identified via genome-wide association studies (GWAS) account for an estimated 26.3% of the disease trait variance in humans.

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Article Synopsis
  • Autoimmune thyroid disease (AITD) includes Graves disease (GD) and Hashimoto disease (HD), with genetic factors contributing significantly to their development, while epigenetics like DNA methylation also plays a role.
  • The study aimed to identify differences in DNA methylation patterns between patients with GD and those with HD using blood samples from Australian and Danish cohorts.
  • Findings revealed specific DNA methylation differences, including 2 significant differentially methylated positions and a differentially methylated region, which could help explain the varying development of GD and HD and suggest the influence of environmental factors.
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There has been a growing interest in the role of the subchondral bone and its resident osteoclasts in the progression of osteoarthritis (OA). A recent genome-wide association study (GWAS) identified 100 independent association signals for OA traits. Most of these signals are led by noncoding variants, suggesting that genetic regulatory effects may drive many of the associations.

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Purpose Of Review: Recent advancements in "omics" technologies and bioinformatics have afforded researchers new tools to study bone biology in an unbiased and holistic way. The purpose of this review is to highlight recent studies integrating multi-omics data gathered from multiple molecular layers (i.e.

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Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes in bone biology, particularly to intramembranous ossification, not captured at other skeletal sites. We perform a genome-wide association meta-analysis (n ~ 43,800) of SK-BMD, identifying 59 loci, collectively explaining 12.5% of the trait variance.

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In the USA, low-income racial/ethnic minority groups experience higher smoking rates and greater smoking-related disease burden than their White counterparts. Despite the adverse effects, racial/ethnic minorities are less likely to access tobacco dependence treatment (TDT). Medicaid is one of the largest payers of TDT in the USA and covers predominantly low-income populations.

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Osteoporosis is a disease that is characterised by reduced bone mineral density (BMD) and can be exacerbated by the excessive bone resorption of osteoclasts (OCs). Bioinformatic methods, including functional enrichment and network analysis, can provide information about the underlying molecular mechanisms that participate in the progression of osteoporosis. In this study, we harvested human OC-like cells differentiated in culture and their precursor peripheral blood mononuclear cells (PBMCs) and characterised the transcriptome of the two cell types using RNA-sequencing in order to identify differentially expressed genes.

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  • A major study involving 580,869 participants identified 1,020 genetic signals linked to lung function impairment, which is crucial in understanding chronic obstructive pulmonary disease (COPD) and predicting mortality.
  • * The research found 559 genes related to lung function that were connected to 29 different biological pathways and demonstrated variations across ancestry, age, and smoking habits.
  • * Findings suggest potential new targets for therapy by highlighting specific genetic variants and proteins, ultimately contributing to better understanding and treatment of COPD.
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Osteoclasts are giant bone-digesting cells that harbor specialized lysosome-related organelles termed secretory lysosomes (SLs). SLs store cathepsin K and serve as a membrane precursor to the ruffled border, the osteoclast's 'resorptive apparatus'. Yet, the molecular composition and spatiotemporal organization of SLs remains incompletely understood.

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Context: Homelessness is a public health crisis affecting millions of Americans every year, with severe consequences for health ranging from infectious diseases to adverse behavioral health outcomes to significantly higher all-cause mortality. A primary constraint of addressing homelessness is a lack of effective and comprehensive data on rates of homelessness and who experiences homelessness. While other types of health services research and policy are based around comprehensive health datasets to successfully evaluate outcomes and link individuals with services and policies, there are few such datasets that report homelessness.

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Abortion is healthcare. Bodily autonomy is a fundamental human right. As chief resident physicians representing family medicine residency programs in the Greater Bay Area and Central California in the University of California San Francisco Family Medicine Alliance, we share a deep commitment to promoting health equity, advancing social justice, and eliminating health disparities.

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Background: Fast-track and enhanced recovery after cardiac surgical procedures have shown reductions in intensive care unit (ICU) and hospital lengths of stay, with unchanged outcomes. However, cost reduction by an ultra-fast-track protocol after minimally invasive cardiac operations, without compromising clinical benefits, has yet to be demonstrated.

Methods: A total of 215 consecutive patients underwent robotic-assisted coronary artery bypass grafting, with 156 preoperatively stratified into conventional ICU recovery vs 59 candidates for a defined ICU-bypass protocol involving recovery room and floor care.

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Objective: Individuals with substance use disorder (SUD) smoke cigarettes at a rate that is more than double the rate of the general population. Tobacco dependence treatment (TDT) is effective at reducing smoking, yet it is unclear whether expanding insurance coverage of these services increases TDT use among Medicaid beneficiaries with SUD.

Data Source: 2009-2013 Medicaid data in all 50 states and Washington DC.

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Despite the high rates of mental illness among youth in the juvenile justice system, many justice-involved youth do not receive adequate behavioral health services. We examined differences in health service utilization outcomes between youth who were diverted through a community-based, precomplaint program (Safety Net; = 41), and youth with juvenile justice involvement in neighboring cities ( = 154). Individual arrest and health care records were combined to evaluate the rate of health care service utilization before and after initial police contact.

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Article Synopsis
  • It's crucial to distinguish primary hyperparathyroidism (PHPT) from familial hypocalciuric hypercalcemia (FHH) in clinical settings, as they can show similar biochemical traits; identifying calcium-sensing receptor gene variants specific to FHH can provide a definitive diagnosis.
  • The study documented three new gene variants (Thr699Asn, Arg701Gly, Thr808Pro) in patients with suspected FHH and applied bioinformatics and functional tests to assess their effects.
  • Results showed that these variants lead to impaired receptor expression and functionality, suggesting they are likely responsible for FHH due to issues with receptor processing and signaling, emphasizing the importance of functional assays in genetic research.
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Despite the widespread availability of effective vaccines, new cases of infection with severe acute respiratory syndrome coronavirus-2, the cause of coronavirus disease 2019 (COVID-19), remain a concern in the settings of vaccine hesitancy and vaccine breakthrough. In this randomized, controlled, phase 2 trial, we hypothesized that high-dose ascorbic acid delivered intravenously to achieve pharmacologic concentrations may target the high viral phase of COVID-19 and thus improve early clinical outcomes. Sixty-six patients admitted with COVID-19 and requiring supplemental oxygen were randomized to receive either escalating doses of intravenous ascorbic acid plus standard of care or standard of care alone.

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Siglec-15, a Siglec family member and type-1 transmembrane protein, is expressed mainly in human macrophages and dendritic cells. It is comprised of a lysine-containing transmembrane domain, two extracellular immunoglobulin (Ig)-like domains and a short cytoplasmic domain. Siglec-15 is highly conserved in vertebrates and acts as an immunoreceptor.

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