Medicine and Health Sciences Commons^™

Effectiveness Of Resin-Infiltration In Masking White Spot Lesions And Enamel Defects, Color Stability And Inhibition Of Caries Progression: A Systematic Review, Amaradri Sravya, Chandrappa Vinay, Kadidal Uloopi, Peddi Ravigna, Penmatsa Chaitanya, Spandana Cheeli

Journal of Dentistry Indonesia

Objective: The study aims to demonstrate the efficacy of resin-infiltration in masking white spot lesions and enamel defects, color stability, and caries progression inhibition in primary and permanent teeth. Methods: PubMed, Cochrane library, Wiley Online Library, and Google Scholar databases were searched from 2018 to 2022 and only randomized controlled clinical trials (RCT’s) were included. The studies were analyzed regarding the clinical efficacy of resin-infiltration in masking white spot lesions and enamel defects, color stability, and inhibition of caries progression. Results: Of the 14 articles identified, 5 RCTs were included. The quality of the studies was assessed …

Institutionalized Bullying In Tertiary Institutions In Nigeria And Perceived Mental Health Impacts: A Phenomenological Qualitative Study, Chika Bosah, Casey Mace Firebaugh, Tara R. Zolnikov

The Qualitative Report

Institutionalized bullying is when bullying moves beyond individual instances of bullying and is culturally embedded in an institution, such as a school or workplace. This type of bullying has not been thoroughly examined in tertiary school settings in Nigeria. This phenomenological qualitative study examined the experiences of tertiary students (from four different institutions in Nigeria) and their experiences of institutionalized bullying to determine if and to what extent this practice is occurring. There were (n=48) tertiary students engaged in open-ended, semi-structured interviews in Nigeria in 2022. Interviews were transcribed, coded, and thematically analyzed. Overall, this study found that institutionalized bullying …

Biomarkers For The Diagnosis Of Indeterminate Pulmonary Nodules: Are We There Yet?, Kevin C Mcgann, Timothy A Khalil, Michael N Kammer, Edwin J Ostrin, Harvey I Pass, Jun-Chieh James Tsay, Leopoldo N Segal, Melissa Potter, Stephen A Deppen, Fabien Maldonado, Eric L Grogan

Faculty, Staff and Student Publications

Indeterminate pulmonary nodules (IPNs), which are nodules that cannot be classified as definitively benign or malignant at the time of detection, are now diagnosed on the order of millions per year. Management of IPNs remains heavily debated, and routine practice ultimately involves some balance of overall clinical risk assessment and additional diagnostic tests or procedures which may generate significant risk, cost, and worry. Biomarkers are biologically based tests or indicators capable of accurately characterizing the physiologic properties of homeostasis and disease that are not otherwise easily evaluated by the clinician. Accurate biomarkers thereby serve as reliable surrogates for biological aberrancy, …

Expression Graph Network Framework For Biomarker Discovery, Yang Liu, Jason Huse, Kasthuri Kannan

Faculty, Staff and Student Publications

Biomarker discovery for complex diseases, such as cancer, hinges on uncovering molecular signatures that capture intricate, interconnected relationships within biological data-a challenge that traditional statistical and machine learning methods often fail to meet due to the complexity of high-dimensional gene expression profiles. To overcome this, we introduce the expression graph network framework (EGNF). This cutting-edge graph-based approach integrates graph neural networks with network-based feature engineering to enhance the predictive identification of biomarkers. EGNF constructs biologically informed networks by combining gene expression data and clinical attributes within a graph database, utilizing hierarchical clustering to generate dynamic, patient-specific representations of molecular interactions. …

Auprc: A Metric For Evaluating The Performance Of In-Silico Perturbation Methods In Identifying Differentially Expressed Genes, Hongxu Zhu, Amir Asiaee, Leila Azinfar, Jun Li, Han Liang, Ehsan Irajizad, Kim-Anh Do, James P Long

Faculty, Staff and Student Publications

In silico perturbation models, computational methods that can predict cellular responses to perturbations, present an opportunity to reduce the need for costly and time-intensive in vitro experiments. Many recently proposed models predict high-dimensional cellular responses, such as gene or protein expression to perturbations such as gene knockout or drugs. However, evaluating in silico performance has largely relied on metrics such as $R^{2}$, which assess overall prediction accuracy but fail to capture biologically significant outcomes like the identification of differentially expressed (DE) genes. In this study, we present a novel evaluation framework that introduces the AUPRC metric to assess the precision …

Braingenebot: A Framework For Variant Prioritization And Generative Pretrained Transformer-Informed Interpretation Across Polygenic Risk Score Studies, Gang Qu, Nitesh Enduru, Xinyi Liu, Xiaoqian Jiang, Zhongming Zhao

Faculty, Staff and Student Publications

Polygenic risk scores (PRS) are widely used to assess genetic susceptibility in Alzheimer's disease (AD) research. However, the rapid expansion of PRS studies has led to dataset-specific biases-stemming from factors like population makeup, genotyping methods, and analysis pipelines-that result in inconsistent variant prioritization and limit generalizability and reproducibility. To address these challenges, we propose a transductive learning framework that integrates multiple PRS datasets for more robust risk variant prioritization, incorporating genome-wide association study (GWAS) priority scores as biologically informed priors. Additionally, we introduce BrainGeneBot, an AI-driven tool leveraging generative pretrained transformers with retrieval-augmented generation technology to streamline genomic analyses in …

Improving Perioperative Nursing Residency Student Retention: Identifying And Mitigating Factors Causing Attrition In A Nursing Residency Program, Bridgette D. Mangan

Doctor of Nursing Practice Final Manuscripts

Abstract

Background: The nursing workforce decreased by 100,000 nurses from 2021 to 2022. Such a drop has not been seen in the last 40 years of the nursing profession. The frequency of job turnover among newly hired nurse graduates is troublesome. Research reveals 30% to 69% of new graduate nurses voluntarily leave their positions within a year of employment. Nurse residency programs help new graduate nurses’ transition from advanced beginners to competent professionals and focus on areas critical to new graduate success. The cost of training a new graduate nurse to be a competent perioperative nurse may be upwards of …

Assessing Stages Of Objective Memory Impairment And Neuroimaging As Risk Factors Of Incident Cognitive Impairment, Kellen K Petersen, Ali Ezzati, Bhargav T Nallapu, Richard B Lipton, Reisa A Sperling, Kathryn V Papp, Dorene M Rentz, Keith A Johnson, Ellen Grober

2020-Current year OA Pubs

OBJECTIVE: The Stages of Objective Memory Impairment (SOMI) system, based on the Free and Cued Selective Reminding Test (FCSRT), is a potential marker of subtle cognitive impairment in cognitively normal persons defined by a Clinical Dementia Rating (CDR) = 0. We investigated SOMI's ability to predict incident cognitive impairment (CDR >0) in combination with demographic features and neuroimaging biomarkers.

METHODS: Cognitively unimpaired participants (CDR = 0) from the Harvard Aging Brain Study had baseline FCSRT scores, MRI, FDG-PET, and PiB-PET as well as follow-up CDRs for 5 years. Cox proportional hazards models with correction for multiple testing assessed the predictive …

Methodological Insights From Evaluating A Family Member's Voice Reorientation Programme: An Interpretive Descriptive Approach., Johnson U. Gideon, Towell-Barnard Amanda, Mclean Christopher, Robert Glenn, Ewens Beverley

Research outputs 2022 to 2026

Background: Delirium is a prevalent acute brain dysfunction in patients within intensive care units. Delirium is marked by a fluctuating mental state, inattention, and altered consciousness. This condition affects a substantial proportion of patients in intensive care units, and which leads to increased mortality, severe physiological and psychological consequences, and a significant economic burden on healthcare systems. Despite the evidence that supports the use of non-pharmacological interventions to prevent or minimise the impact of delirium such as orientation, sensory stimulation, early mobilisation, and family involvement, their implementation in intensive care units remains inconsistent. The involvement of family members in the …

Bacterial Identification And Antibiotic Sensitivity Profiles From Captive Birds At Taipei Zoo, Younjung Chang, I-Li Liu, Jane-Fang Yu, Lih-Chiann Wang

The Thai Journal of Veterinary Medicine

Bacterial infections are common in zoo birds. They may be caused by pathogenic bacteria or opportunistic bacteria due to trauma or stress-induced immune compromise. Improper use of antibiotics contributes to the development of resistant bacteria, making treatment complicated or ineffective. However, comprehensive clinical investigations into bacterial prevalence and antibiotic susceptibility in zoo-captive birds remain limited. This study identified the bacterial species present in captive diseased birds at the zoo and conducted a 12-year analysis of their antibiotic susceptibility profiles. The specimens from 48 birds at Taipei Zoo from 2006 to 2017 were submitted to a commercial reference laboratory for bacterial …

Medical Students Trained In Emotional Intelligence Seem To Be More Apprehensive Of Artificial Intelligence In Healthcare, Austin P. Runde, Shambhavi Mishra, Marina Feffer, Ramzan Shahid

School of Medicine

The use of artificial intelligence (AI) in healthcare is becoming increasingly widespread. While AI has been touted to reduce burnout and improve outcomes, its potential to undermine the doctor-patient relationship has been recognized. It is not known what future physicians believe regarding AI in healthcare and whether formal training on emotional intelligence and resilience (EIR) affects their opinion. Our medical students were asked to anonymously and voluntarily complete a 12-item survey regarding the potential impact of AI on the doctor-patient relationship (IRB #219038). Results were summarized as means and standard deviations, stratified by whether students did (EIR⁺) or …

Assessment Of The Dietary Supplements Effects On Maternal Underweight In Nigeria, Chukwuebuka Jude Chiobi, Uzoamaka Angela Chiobi, Ambrose Nnaemeka Omeje, Ikechukwu Andrew Mobosi, Michael Okike Ugwu, Nnamdi Simeon Ugwu

Kesmas

Maternal underweight continues to rise and, if not properly managed, will lead to increased mortality. This contradicts the United Nations Sustainable Development Goal of reducing maternal mortality by 2050. Therefore, this study aimed to determine the probable effect of dietary supplements on maternal underweight in Nigeria. This study employed probit estimation using the maximum likelihood technique in 2022, with the 2018 Nigeria Demographic Health Survey data as the basis for analysis. The results showed a statistically significant effect of dietary supplements on maternal underweight in Nigeria. The likelihood of dietary supplements impacting maternal underweight was approximately 0.4% lower, on average, …

Gambaran Kasus Parotitis Anak Sekolah Dasar Di Wilayah Kerja Puskesmas Loa Bakung, Irfansyah Baharuddin Pakki, Resda Herliani, Noorhayaty Noorhayaty, Vicca Yulia Insany, Arista Dian Yuniasih, Ratih Fianni Sigit

Jurnal Epidemiologi Kesehatan Indonesia

Parotitis is a disease caused by mumps virus infection. The infection attacks the parotid glands, causing symptoms such as fever, swelling on the side of the face accompanied by pain. Data from the Samarinda City Health Office shows that there were 380 cases of mumps from September to early October 2024. The increase in cases also occurred among elementary school children, but there is no definitive data yet that illustrates the number and distribution of parotitis cases. The aim of this study is to identify the risk factors for mumps in elementary school children in the Loa Bakung working area. …

Gambaran Faktor Risiko Waktu Terapi Radiasi Yang Berkepanjangan Pada Pasein Kanker Payudara: Studi Cross-Sectional Di Rsup Dr. Kariadi Tahun 2023, Zahra Zetira Muchtar, Asri C. Adisasmita, Dion Firli Bramantyo

Jurnal Epidemiologi Kesehatan Indonesia

In Indonesia, there were more than 58,000 new breast cancer cases with nearly 23,000 deaths in 2020. Radiotherapy is one of the adjuvant therapy modalities for breast cancer. Interruptions of more than five days increase the risk of local recurrence. This study aimed to describe the risk factors associated with prolonged overall treatment time (OTT) in breast cancer patients at Dr. Kariadi General Hospital during 2023. This was a cross-sectional study using bivariate logistic regression analysis to examine the association between national holidays, deterioration of general condition, age, residence, and type of surgery prior to radiation therapy with prolonged OTT. …

Hubungan Kualitas Pemeriksaan Kehamilan Terhadap Kejadian Stunting Pada Anak Usia 6-23 Bulan Di Indonesia (Analisis Ski 2023), Hanna Audila, Helda Helda, Sudarto Ronoatmodjo

Jurnal Epidemiologi Kesehatan Indonesia

Stunting is still a nutritional problem and remains a major public health issue. Especially in Indonesia, the prevalence of stunting among children under two years old (toddlers) remains high, at 18.50%. The annual average rate of reduction of stunting among toddlers has been relatively slow for over the past 10 years. Therefore, optimizing stunting interventions-particularly during the first 1000 days of life is essential, including through antenatal care (ANC). This study aims to analyze the relationship between the quality of antenatal care and the incidence of stunting among children aged 6-23 months-old in Indonesia, after being controlled by the other …

Intervensi Booklet Bermarkah Terhadap Peningkatan Perilaku Pencegahan Leptospirosis Pada Ibu Rumah Tangga, Na'wa Nurmalytasari, Heru Subaris Kasjono, Ibnu Rois, Sugianto Sugianto

Jurnal Epidemiologi Kesehatan Indonesia

Leptospirosis remains a public health concern in Indonesia, including in Bantul Regency. Data from Sewon I Public Health Center (Puskesmas) indicate a high incidence of cases, particularly among housewives who are considered a high-risk group. Effective education is essential to improve leptospirosis prevention behavior. This study aimed to determine the effect of a marked booklet as an innovative health education medium on improving knowledge, attitudes, and preventive actions against leptospirosis among housewives. The study used a quasi-experimental design with a pre-test and post-test control group approach. A total of 60 respondents were divided into two groups, namely the experimental group, …

Safe Steps: Protecting Pediatric Patients From Falls, Sydney Richter, Generra Okello, Adaeze Ndulue, Megan Bauman, Robert Riegler

2024

No abstract provided.

Hubungan Karakteristik Kontak Erat Dengan Pengetahuan, Sikap, Dan Perilaku Pencegahan Tuberkulosis: Studi Potong Lintang Di Puskesmas Kenarilang, Alor, Nusa Tenggara Timur, Hanif Abadi, Ezra Maraben Lily

Jurnal Epidemiologi Kesehatan Indonesia

Indonesia ranks second globally in the number of tuberculosis (TB) cases, accounting for 10% of all global cases. In the working area of Kenarilang Public Health Center, 951 confirmed TB cases were recorded as of October 2024. Close contacts of TB patients are at high risk of infection and may become new sources of transmission if not properly managed. Knowledge, attitudes, and practices (KAP) among close contacts play a crucial role in TB prevention, aligning with the target of TB elimination by 2030. This study aims to determine the relationship between the characteristics of close contacts and their KAP levels …

Analisis Potensial Kejadian Luar Biasa Dbd Berdasarkan Kasus Dbd 5 Tahun Terakhir 2019-2024 : Studi Ekologi Di Kota Lubuklinggau Provinsi Sumatera Selatan, Sely Anggraini, Tri Yunis Miko Wahyono, Fitria Fitria, Nadia Putri

Jurnal Epidemiologi Kesehatan Indonesia

Dengue Hemorrhagic Fever (DHF) is an endemic disease in Indonesia, with a high potential for outbreaks, particularly in tropical and densely populated regions such as Lubuklinggau City. This study aimed to assess the outbreak potential of DHF in Lubuklinggau by analyzing the five-year trend of minimum and maximum case numbers (2019–2023) and comparing them with 2024 data using the epidemic threshold approach. A descriptive ecological study design was employed, with all primary health centers (puskesmas) in the city as units of analysis. Data sources included annual DHF surveillance reports from the District Health Office, field observations, demographic data from the …

An Epidemiological Exploration Of Binge Eating Disorder And Its Emotional Roots Among Youth In Greater Jakarta, Henny Kurniati, Yudha Asy'ari, Tri Amelia Rahmitha Helmi, Tonny Sundjaya

Jurnal Epidemiologi Kesehatan Indonesia

The rising prevalence of mental disorders among youth, including depression, anxiety, stress, and binge eating disorder (BED), has become a major concern in the context of global mental health. BED, as a form of eating disorder, often occurs with psychological conditions such as anxiety and depression, complicating diagnosis and treatment. This study aimed to investigate the prevalence and association between depression, anxiety, stress, and BED among youth in Greater Jakarta. Using a cross-sectional online design, data were collected from 231 participants aged 18-25 years through the Binge Eating Scale (BES) and Depression Anxiety Stress Scale-21 (DASS-21). Statistical analysis involved bivariate …

Exploring Stunting In South Kalimantan Province Using R Programming-Based Data Visualization, Muhammad Hudaya, Wahyudin Nor, Mellani Yuliastina, Muhammad Nordiansyah

Kesmas

South Kalimantan Province continues to face the challenge of relatively high stunting prevalence despite being endowed with abundant coal resources that could serve as a source of funding for public health. Therefore, this study aimed to examine differences in stunting prevalence among cities, mining districts, and non-mining districts in South Kalimantan to raise stakeholder awareness of disparities across these regional types. This study was conducted between April and December 2024, using secondary data obtained from the Indonesian Ministry of Health and the South Kalimantan Provincial Government. R programming was used to process the data, generate visualizations, and perform analysis of …

Determinan Ketidakpatuhan Kunjungan Pengambilan Obat Antiretroviral Pasien Hiv/Aids Di Kabupaten Bekasi Tahun 2023-2024, Intan Ully Athalia Sihombing, Mondastri Korib Sudaryo, Helda Helda, Helwiah Umniyati, Irva Zulviya Hasyim

Jurnal Epidemiologi Kesehatan Indonesia

Non-adherence to scheduled antiretroviral (ARV) medication pickup can reduce treatment effectiveness, increase the risk of drug resistance, and contribute to poor HIV infection control. This study aimed to identify factors associated with missed ARV pickup appointments among people living with HIV/AIDS in Bekasi District. An analytical cross-sectional study was conducted using secondary data from HIV/AIDS patients undergoing ARV therapy in 2023–2024. Data were analyzed descriptively (univariate), using Chi-square tests (bivariate), and log-binomial regression (multivariate). Among 811 patients, 341 (42%) were recorded as non-adherent to their medication pickup schedule. The results showed that having an unsuppressed viral load (>50 copies/ml) …

Biofluid Biomarkers Aid In Diagnosing And Developing Improved Treatments For People With Alzheimer's Disease, Jonatan A. Lopez

University Honors Theses

Dementia is a disease in which daily life is disrupted by a loss of cognitive function. Late-onset Alzheimer's disease (AD) is the most common dementia that largely begins to affect individuals in their mid 60s or older. AD was selected as the focus of this paper because it is the most common form of dementia, accounting for 50-70% of dementia cases. A typical diagnostic approach used by physicians starts with a simple clinical test, the Mini-Mental State Examination (MMSE), when cognitive decline is suspected in a patient. Then if there is enough evidence to suggest AD, a physician would order …

Can Artificial Intelligence Models Provide Reliable Medical Counselling To Fertility Patients?, Idan Alcalay, Ariel Weissman, Hadas Ganer Herman, Avi Tsafrir, Matan Friedman, Eran Weiner, Raoul Orvieto, Nikolaos P. Polyzos, Michael H. Dahan, Alex Polyakov, Robert Fischer, Sandro C. Esteves, Baris Ata, Jason M. Franasiak, Yossi Mizrachi

Department of Obstetrics and Gynecology Faculty Papers

RESEARCH QUESTION: Can generative artificial intelligence (AI) models provide reliable counselling to fertility patients regarding real-world clinical questions?

DESIGN: In this cross-sectional study, 12 clinical questions were developed to reflect common, real-life dilemmas encountered during fertility workup and treatment. Responses to each question were generated by two experienced fertility specialists, and two AI models - ChatGPT and Gemini. Eight leading internationally recognized fertility experts, blinded to the source of each reply, independently rated all the responses on a scale from 1 (strongly disagree) to 10 (strongly agree). Ratings were compared across all four repliers using non-parametric statistical tests.

RESULTS: The …

A Qualitative Analysis Of How Just Stop Oil Protests Are Framed In The Uk Online News Media, Holly Handy

The Plymouth Student Scientist

Previous research has found that when the news media reports on demonstrations, protest groups can be subject to delegitimising coverage. This body of research can be subsumed under Chan & Lee’s “protest paradigm” and is believed to consist of a set of narrative frames that journalists default to in the coverage of protests. Recent research demonstrates how the use of these framing devices may be in decline and advocates for a more integrated approach to protest coverage. However, there is little research that uses analytic frameworks specifically theorised to explore media framing. This study uses Giles and Shaw’s media framing …

Whole-Genome Sequence-Based Association Analysis Of African American Individuals With Bipolar Disorder And Schizophrenia, Runjia Li, Sarah A Gagliano Taliun, Kevin Liao, Matthew Flickinger, Janet L Sobell, Giulio Genovese, Adam E Locke, Rebeca Rothwell Chiu, Jonathon Lefaive, Jiongming Wang, Taylor Martins, Sinéad Chapman, Anna Neumann, Robert E Handsaker, Donna K Arnett, Kathleen C Barnes, Eric Boerwinkle, David Braff, Brian E Cade, Myriam Fornage, Richard A Gibbs, Karin F Hoth, Lifang Hou, Charles Kooperberg, Ruth J F Loos, Ginger A Metcalf, Courtney G Montgomery, Alanna C Morrison, Zhaohui S Qin, Susan Redline, Alexander P Reiner, Stephen S Rich, Jerome I Rotter, Kent D Taylor, Karine A Viaud-Martinez, National Heart, Lung, And Blood Institute Trans-Omics For Precision Medicine (Topmed) Consortium;, Genomic Psychiatry Cohort Investigators, Tim B Bigdeli, Stacey Gabriel, Sebastian Zollner, Albert V Smith, Goncalo Abecasis, Steve A Mccarroll, Michele T Pato, Carlos N Pato, Michael Boehnke, James Knowles, Hyun Min Kang, Roel A Ophoff, Jason Ernst, Laura J Scott

Faculty, Staff and Students Publications

In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is known for individuals of other genetic ancestries or the role of rare non-coding variants in BD and SZ risk. We performed whole-genome sequencing (∼27X) of African American individuals: 1,598 with BD, 3,295 with SZ, and 2,651 unaffected controls (InPSYght study). We increased power by incorporating 14,812 jointly called psychiatrically unscreened ancestry-matched controls from the Trans-Omics for Precision Medicine (TOPMed) Program for a total of …

Predictors Of Perceived Hiv Stigma Among People Who Inject Drugs In The United States, Itunu Sokale, Paige Wermuth, Johnny Wilkerson, Folefac Atem, Salma Khuwaja, Catherine Troisi

Faculty, Staff and Student Publications

Background: HIV stigma is a huge impediment to ending the HIV epidemic. To develop effective HIV interventions, we must determine factors associated with HIV stigma, particularly among high-risk groups like people who inject drugs (PWID). We aimed to identify predictors of perceived HIV stigma (PHS) among a sample of PWID from 23 U.S. cities.

Methods: We analyzed the 2018 National HIV Behavioral Surveillance data on PWID aged ≥ 18 years. PHS was assessed using a validated survey that measured four PHS constructs: perceived unfriendliness, perceived discrimination, perceived punishment, and perceived support. We created a composite PHS index score by summing …

Zika In Infants And Pregnancy (Zip) Study: Results From A Prospective International Cohort Study Of Prenatal Zika Virus Infection And Adverse Fetal And Infant Outcomes, Jill Farnell Lebov, Martha Nason, Kristen B Stolka, Ricardo Ximenes, Marisa M Mussi-Pinhata, Jack Moye, Carmen D Zorrilla, Carmen M Velez Vega, José F Cordero, Deolinda M F Scalabrin, Albert I Ko, Maria Elisabeth Lopes Moreira, Luiz Augusto Galvão, William Britt, Ernesto T A Marques, Angel Balmaseda, Eva Harris, Juan F Arias, Stacey Schultz-Cherry, Ana Lucía Garces, Nancy F Krebs, Theresa J Ochoa, César Augusto Ugarte-Gil, Elizabeth Fogleman, Erin Gabriel, Michael Welton, Carmen M Irizarry, Silvia Biason De Moura Negrini, Conrado Milani Coutinho, Demócrito De Barros Miranda-Filho, Ulisses Ramos Montarroyos, Marli Tenorio Cordeiro, Anna Gajewski, Jorge E Osorio, Lester Figueroa

Faculty, Staff and Student Publications

Background: Before Zika virus (ZIKV) infections were observed in the Americas, an association between ZIKV and microcephaly or other congenital malformations was not well documented. Initial reports suggested strong associations between ZIKV and congenital malformations, but plausible estimates of causal effects from prospective studies with adequate sample size and covariate data were few.

Methods: From 2016-2018, the Zika in Infants and Pregnancy (ZIP) study enrolled pregnant people before 18 weeks gestation or with confirmed symptomatic ZIKV in a prospective cohort across 10 sites in South and Central America, and in Puerto Rico. Pregnancies were followed monthly through delivery and 6 …

Whole-Genome Sequence-Based Association Analysis Of African American Individuals With Bipolar Disorder And Schizophrenia, Runjia Li, Sarah A Gagliano Taliun, Kevin Liao, Matthew Flickinger, Janet L Sobell, Giulio Genovese, Adam E Locke, Rebeca Rothwell Chiu, Jonathon Lefaive, Jiongming Wang, Taylor Martins, Sinéad Chapman, Anna Neumann, Robert E Handsaker, Donna K Arnett, Kathleen C Barnes, Eric Boerwinkle, David Braff, Brian E Cade, Myriam Fornage, Richard A Gibbs, Karin F Hoth, Lifang Hou, Charles Kooperberg, Ruth J F Loos, Ginger A Metcalf, Courtney G Montgomery, Alanna C Morrison, Zhaohui S Qin, Susan Redline, Alexander P Reiner, Stephen S Rich, Jerome I Rotter, Kent D Taylor, Karine A Viaud-Martinez, Tim B Bigdeli, Stacey Gabriel, Sebastian Zollner, Albert V Smith, Goncalo Abecasis, Steve A Mccarroll, Michele T Pato, Carlos N Pato, Michael Boehnke, James Knowles, Hyun Min Kang, Roel A Ophoff, Jason Ernst, Laura J Scott

Faculty, Staff and Student Publications

In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is known for individuals of other genetic ancestries or the role of rare non-coding variants in BD and SZ risk. We performed whole-genome sequencing (∼27X) of African American individuals: 1,598 with BD, 3,295 with SZ, and 2,651 unaffected controls (InPSYght study). We increased power by incorporating 14,812 jointly called psychiatrically unscreened ancestry-matched controls from the Trans-Omics for Precision Medicine (TOPMed) Program for a total of …

Cross-Platform Transcriptomic Data Integration Identifies An Overactive Neuro-Immune Signature In Human Osteoarthritis Synovium, Michael D Newton, Hannah Swahn, Dana E Orange, Joseph B Lesnak, Theodore J Price, Anne-Marie Malfait, Rachel E Miller, Martin K Lotz, Tristan Maerz

Faculty, Staff and Student Publications

Objective: Chronic synovitis is associated with osteoarthritis (OA) pain, but the molecular underpinnings remain unclear. Our objective was to characterize the transcriptional phenotype of OA synovium with a focus on signaling relevant to pain.

Design: Eight publicly-available microarray and RNA-sequencing GEO datasets from human non-OA and OA subjects underwent quality control and re-analysis for differentially-expressed genes (DEGs). Cross-platform statistical integration was performed via a weighted Z-test to combine detection power across datasets. Gene set enrichment, cell type enrichment, and regulon analyses were performed. Human single-cell RNA sequencing data was used to map gene expression to cell types. Ligand-receptor interactions were …