Covid-19 & Healthcare (Re)Privatization? A Comparative Analysis Of High And Medium Per Capita Gdp Countries,
2025
Binghamton University--SUNY
Covid-19 & Healthcare (Re)Privatization? A Comparative Analysis Of High And Medium Per Capita Gdp Countries, Kristina Donders, Kaitlyn Matthews, Brittany Reyes, Frank. H. Rizzo
Working Papers Series
This paper examines whether the COVID-19 pandemic accelerated healthcare privatization in high- and medium-GDP countries. Drawing on political economy theories of path dependence and privatization, we analyze changes in public and private healthcare expenditures in eight countries: Canada, Chile, Denmark, Georgia, Luxembourg, Norway, the Philippines, and South Korea—comparing data from 2019 and 2022. Using World Bank indicators on healthcare financing, GDP, aging populations, and food insecurity, we find that although healthcare expenditures generally increased during the pandemic, this increase was primarily in public, not private, spending. Case studies of Georgia and South Korea reveal that local economic and demographic pressures, …
Maternal Loss Of Mouse Nlrp2 Alters The Transcriptome And Dna Methylome In Gv Oocytes And Impairs Zygotic Genome Activation In Embryos,
2025
The Texas Medical Center Library
Maternal Loss Of Mouse Nlrp2 Alters The Transcriptome And Dna Methylome In Gv Oocytes And Impairs Zygotic Genome Activation In Embryos, Zahra Anvar, Michael D Jochum, Imen Chakchouk, Momal Sharif, Hannah Demond, Alvin K To, Daniel C Kraushaar, Ying-Wooi Wan, Michael C Mari, Simon Andrews, Gavin Kelsey, Ignatia B Van Den Veyver
Center for Medical Ethics and Health Policy Staff Publications
Background: NLRP2 is a subcortical maternal complex (SCMC) protein of mammalian oocytes and preimplantation embryos. SCMC proteins are encoded by maternal effect genes and play a pivotal role in the maternal-to-zygotic transition (MZT), early embryogenesis, and epigenetic (re)programming. Maternal inactivation of genes encoding SCMC proteins has been linked to infertility and subfertility in mice and humans, but the underlying molecular mechanisms for the diverse functions of SCMC proteins, and specifically the role of NLRP2, are incompletely understood.
Results: We profiled the DNA methylome of pre-ovulatory germinal-vesicle (GV) oocytes from Nlrp2-null, heterozygous (Het), and wild-type (WT) female mice and assessed the …
A Novel Cardiomyopathy Phenotype Linked To A Chd7 Missense Variant,
2025
The Texas Medical Center Library
A Novel Cardiomyopathy Phenotype Linked To A Chd7 Missense Variant, In Young Park, Chih-Wei Hsu, Karim Bouazoune, Christina E Espindola, Madeline Hannah Mclaughlin Armond, Cristian Coarfa, Sandra L Grimm, James F Martin, Donna M Martin, Cheryl Lyn Walker
Center for Medical Ethics and Health Policy Staff Publications
Loss of function in the chromatin remodeler CHD7 causes CHARGE syndrome, characterized by variable penetrance and diverse abnormalities. However, establishing genotype-phenotype correlations has been challenging, as most CHD7 inactivating mutations are null alleles. Through CHD7 missense variant analysis at potential phosphorylation sites, we identified T730 (T720 in mice) as a critical residue associated with pathogenesis. Using a CHD7 T730 missense variant (Chd7T720A) and a frameshift null allele (Chd7fs) in a mouse model, we found that Chd7fs/fs mice were non-viable, while Chd7fs/+ mice exhibited haploinsufficiency-related circling behavior. Notably, Chd7fs/T720A mice died before postnatal …
Xbp1s-Edem2 Prevents The Onset And Development Of Hfpef By Ameliorating Cardiac Lipotoxicity,
2025
The Texas Medical Center Library
Xbp1s-Edem2 Prevents The Onset And Development Of Hfpef By Ameliorating Cardiac Lipotoxicity, Oveena Fonseka, Rida Raja, Claire Ross, Sanskruti R Gare, Jiayan Zhang, Susanne S Hille, Katharine King, Andrea Ruiz-Velasco, Namrita Kaur, Xinyi Chen, Jessica M Miller, Riham R E Abouleisa, Qinghui Ou, Zhiyong Zou, Xiangjun Zhao, Cristian Sotomayor-Flores, Derk Frank, Eileithyia Swanton, Martin R Pool, Sara Missaglia, Daniela Tavian, Gabriele G Schiattarella, Tao Wang, Luigi Venetucci, Christian Pinali, Martin K Rutter, Bernard D Keavney, Elizabeth J Cartwright, Tamer M A Mohamed, Oliver J Müller, Wei Liu
Center for Medical Ethics and Health Policy Staff Publications
Background: Morbidity and mortality of heart failure with preserved ejection fraction (HFpEF) is increased in metabolic disorders. However, options for preventing and treating these prevalent outcomes are limited. Intramyocardial lipotoxicity contributes to cardiac dysfunction. Here, we investigate the mechanisms underlying EDEM2 (endoplasmic reticulum degradation-enhancing alpha-mannosidase-like protein 2) regulation of cardiac lipid homeostasis and assess strategies that inhibit the incidence and progression of HFpEF.
Methods: Metabolic stress was induced in C57BL/6 male mice using a high-fat diet and Nω-nitro-L-arginine methyl ester. The recombinant adeno-associated virus 9 delivery system was used for loss- and gain-of-function studies. Palmitic acid and oleic acid …
How Far-Right Populism Harms Ethnic Minorities’ Health: The Case Of The United States,
2025
Rowan University
How Far-Right Populism Harms Ethnic Minorities’ Health: The Case Of The United States, Dina Rosenberg
Working Papers Series
Public health is a political issue, and the health of ethnic minorities is a key component of it. We argue that far-right populism, whether grassroots or elitist, harms the health of immigrants and minorities. Anti-minority attitudes and policies—such as health chauvinism promoted by far-right populists—along with hate rhetoric and ensuing personal and institutional discrimination create a climate of hostility that negatively affects health outcomes in underprivileged communities. We hypothesize that immigrants and ethnic minorities living in such a climate are more likely to experience health problems and underutilize healthcare. To test this, we leverage the significant variation between U.S. states …
Ocular Phenotyping Of Knockout Mice Identifies Genes Associated With Late Adult Retinal Phenotypes,
2025
The Texas Medical Center Library
Ocular Phenotyping Of Knockout Mice Identifies Genes Associated With Late Adult Retinal Phenotypes, Abraham Hang, Andy Shao, Michael Shea, Michel J Roux, Denise M Imai-Leonard, David J Adams, Takanori Amano, Oana V Amarie, Zorana Berberovic, Raphaël Bour, Lynette Bower, Brian C Leonard, Steve D Brown, Soo Young Cho, Sharon Clementson-Mobbs, Abigail J D'Souza, Mary Dickinson, Mohammad Eskandarian, Ann M Flenniken, Helmut Fuchs, Valerie Gailus-Durner, Jason Heaney, Yann Hérault, Martin Hrabe De Angelis, Chih-Wei Hsu, Shundan Jin, Russell Joynson, Yeon Kyung Kang, Haerim Kim, Hiroshi Masuya, Ki-Hoan Nam, Hyuna Noh, Lauryl M J Nutter, Marcela Palkova, Jan Prochazka, Miles Joseph Raishbrook, Fabrice Riet, Jason Salazar, John Richard Seavitt, Radislav Sedlacek, Mohammed Selloum, Kyoung Yul Seo, Je Kyung Seong, Hae-Sol Shin, Toshihiko Shiroishi, Tania Sorg, Michelle Stewart, Masaru Tamura, Heather Tolentino, Uchechukwu Udensi, Sara Wells, Wolfgang Wurst, Atsushi Yoshiki, Hamid Meziane, Glenn Yiu, Paul A Sieving, Louise Lanoue, K C Kent Lloyd, Colin Mckerlie, Ala Moshiri, International Mouse Phenotyping Consortium (Impc)
Center for Medical Ethics and Health Policy Staff Publications
Purpose: Analyze phenotypic data from knockout mice with late-adult retinal pathologic phenotypes to identify genes associated with development of adult-onset retinal diseases.
Methods: The International Mouse Phenotyping Consortium (IMPC) database was queried for genes associated with abnormal retinal phenotypes in the late-adult knockout mouse pipeline (49-80 weeks postnatal age). We identified human orthologs and performed protein-protein analysis and biological pathways analysis with known inherited retinal disease (IRD) and age-related macular degeneration (AMD) genes using Search Tool for the Retrieval of Interacting Genes/Proteins (STRING), PLatform for Analysis of single cell Eye in a Disk (PLAE), Protein Analysis Through Evolutionary Relationships (PANTHER), …
An Assessment Of Maine's Capacity To Support Transitions Of Care Through The Substance Use Disorder Continuum,
2025
University of Southern Maine, Catherine Cutler Institute
An Assessment Of Maine's Capacity To Support Transitions Of Care Through The Substance Use Disorder Continuum, Mary Lindsey Smith Phd, Sarah Mclaughlin Mph, Rachel M. Gallo Mph
Substance Use Research & Evaluation
This report evaluates Maine's capacity to support effective transitions of care across the substance use disorder (SUD) treatment continuum. Using data collected from a statewide survey of 65 SUD providers, conducted from February to April 2025, the study examines organizational practices, inter-provider communication, and coordination strategies related to transitions between levels of care: medically supervised withdrawal, inpatient, and outpatient treatment programs. Key findings reveal strong intra-organizational communication, widespread understanding of ASAM criteria, and a general commitment to patient-centered care. However, gaps persist in coordination between care levels, particularly in withdrawal management programs, which rarely conduct follow-ups or collaborate with outpatient …
Withdrawal Management In Maine: Capacity Challenges And Opportunities For Improvement,
2025
University of Southern Maine, Catherine Cutler Institute
Withdrawal Management In Maine: Capacity Challenges And Opportunities For Improvement, Mary Lindsey Smith Phd, Katie Rosingana Ba, Tyler Egeland Ba, Sarah Mclaughlin Mph
Substance Use Research & Evaluation
This summary report presents findings from healthcare provider interviews conducted in 2024 to assess the current landscape of withdrawal management (WM) services in Maine. Sixteen providers, across eight counties and representing a range of substance use disorder (SUD) service types, were interviewed to evaluate capacity, challenges, and opportunities for improvement across the continuum of care. Thematic analysis identified widespread gaps in withdrawal management capacity, especially in ASAM Levels 1.7 to 4.0, with critical shortages in ambulatory and low-intensity residential services. Key barriers included geographic inequities, insufficient infrastructure, long waitlists, inadequate reimbursement, and workforce shortages exacerbated by stigma and provider discomfort. …
Feedback On Withdrawal Management Services In Maine From Persons With Lived Experience,
2025
University of Southern Maine, Catherine Cutler Institute
Feedback On Withdrawal Management Services In Maine From Persons With Lived Experience, Mary Lindsey Smith Phd, Katie Rosingana Ba
Substance Use Research & Evaluation
This summary report presents findings from interviews with twelve persons with lived experience of substance use disorder (PWLE). The interviews asked persons in recovery about their experiences accessing withdrawal management and broader substance use treatment services across Maine. Participants identified key barriers to treatment including high costs, limited bed availability, long wait times, geographic inaccessibility, and lack of centralized information. Gaps in service infrastructure, particularly for opioid withdrawal management, long-term treatment, and transition supports post-detox, were widely reported. Participants emphasized the critical need for more localized and individualized services, particularly for parents, rural residents, and low-income individuals. Recommendations include expanding …
A Meta-Analysis Of Diagnostic Yield And Clinical Utility Of Genome And Exome Sequencing In Pediatric Rare And Undiagnosed Genetic Diseases,
2025
The Texas Medical Center Library
A Meta-Analysis Of Diagnostic Yield And Clinical Utility Of Genome And Exome Sequencing In Pediatric Rare And Undiagnosed Genetic Diseases, Rajshree Pandey, Noemi Fluetsch Brennan, Kalliopi Trachana, Sarah Katsandres, Olaf Bodamer, John Belmont, David L Veenstra, Siyang Peng
Center for Medical Ethics and Health Policy Staff Publications
Purpose: To systematically evaluate the diagnostic yield and clinical utility of genome sequencing (GS) and exome sequencing (ES; genome-wide sequencing [GWS]) in pediatric patients with rare and undiagnosed genetic diseases.
Methods: We conducted a meta-analysis of studies published between 2011 and 2023. To address study heterogeneity, comparative analyses included within-cohort studies using random-effects models.
Results: We identified 108 studies including 24,631 probands with diverse clinical indications. The pooled diagnostic yield among within-cohort studies (N = 13) for GWS was 34.2% (95% CI: 27.6-41.5; I2: 86%) vs 18.1% (95% CI: 13.1-24.6; I2: 89%) for non-GWS, with 2.4-times odds of diagnosis (95% …
Joint Analysis Of The Npod-Virus Group Data: The Association Of Enterovirus With Type 1 Diabetes Is Supported By Multiple Markers Of Infection In Pancreas Tissue,
2025
The Texas Medical Center Library
Joint Analysis Of The Npod-Virus Group Data: The Association Of Enterovirus With Type 1 Diabetes Is Supported By Multiple Markers Of Infection In Pancreas Tissue, Sarah J Richardson, Teresa Rodriguez-Calvo, Jutta E Laiho, John S Kaddis, Julius O Nyalwidhe, Irina Kusmartseva, Sofia Morfopoulou, Joseph F Petrosino, Vincent Plagnol, Kathrin Maedler, Margaret A Morris, Jerry L Nadler, Mark A Atkinson, Matthias Von Herrath, Richard E Lloyd, Heikki Hyoty, Noel G Morgan, Alberto Pugliese, Npod-Virus Group
Center for Medical Ethics and Health Policy Staff Publications
Aims/hypothesis: Previous pathology studies have associated enterovirus infections with type 1 diabetes by examining the enterovirus capsid protein 1 (VP1) in autopsy pancreases obtained near diabetes diagnosis. The Network for Pancreatic Organ Donors with Diabetes (nPOD) has since obtained pancreases from organ donors with type 1 diabetes (with broad age and disease duration) and donors with disease-associated autoantibodies (AAbs), the latter representing preclinical disease. Two accompanying manuscripts from the nPOD-Virus Group report primary data from a coordinated analysis of multiple enterovirus indices. We aimed to comprehensively assess the association of multiple enterovirus markers with type 1 diabetes.
Methods: The nPOD-Virus …
Detection Of Enterovirus Rna In Pancreas And Lymphoid Tissues Of Organ Donors With Type 1 Diabetes,
2025
The Texas Medical Center Library
Detection Of Enterovirus Rna In Pancreas And Lymphoid Tissues Of Organ Donors With Type 1 Diabetes, Jutta E Laiho, Sami Oikarinen, Sofia Morfopoulou, Maarit Oikarinen, Ashlie Renner, Daniel Depledge, Matthew C Ross, Ivan C Gerling, Judith Breuer, Joseph F Petrosino, Vincent Plagnol, Alberto Pugliese, Antonio Toniolo, Richard E Lloyd, Heikki Hyöty, Npod-Virus Group
Center for Medical Ethics and Health Policy Staff Publications
Aims/hypothesis: The nPOD-Virus group collaboratively applied innovative technologies to detect and sequence viral RNA in pancreas and other tissues from organ donors with type 1 diabetes. These analyses involved the largest number of pancreas samples collected to date. The aim of the current work was to examine the presence of enterovirus RNA in pancreas and lymphoid tissues of organ donors with and without type 1 diabetes.
Methods: We analysed pancreas, spleen, pancreatic lymph nodes and duodenum samples from the following groups: (1) donors with type 1 diabetes (n=71) with (n=35) or without (n=36) insulin-containing islets; (2) donors with single or …
Bridging The Gap: Exploring The Intersection Of Formal Mental Health Services And Informal Social Supports In Bipoc Communities,
2025
National Louis University
Bridging The Gap: Exploring The Intersection Of Formal Mental Health Services And Informal Social Supports In Bipoc Communities, Patrice D. Patton-Campbell
Dissertations
Despite growing awareness of mental health disparities, BIPOC (Black, Indigenous, and People of Color) communities continue to face significant barriers in accessing culturally responsive mental health care. This dissertation explores the intersection between formal mental health services and informal social supports such as family, religious institutions, and community networks to understand which systems are more trusted, accessible, and effective for BIPOC individuals. Grounded in Urban Liberation Psychology and guided by decolonial and culturally responsive care frameworks, this qualitative study draws from focus groups and interviews with 33 participants, including both community members and service providers from the Chicagoland area and …
Moving The Needle: The Policy Of Change On Syringe Access, New York City And State, 1988–2023,
2025
CUNY Graduate Center
Moving The Needle: The Policy Of Change On Syringe Access, New York City And State, 1988–2023, Joyce Rivera
Dissertations, Theses, and Capstone Projects
By the mid-1980s, the HIV/AIDS epidemic breached a longstanding consensus between the political class and its bureaucratic alliances that had relied for decades on attitudes and orientations that championed punitive prohibition toward drugs as a bedrock principle of policy making. This ‘focusing event’ created an opening for HIV/AIDS activists to build a movement that offered an alternative, a more effective and just approach to how government policies and practices can manage illegal drugs and the persons who use drugs.
The dissertation uses several theoretical and methodological tools to address the central research objective that highlights the critical role played by …
Path Dependency And The Politics Of U.S. Health Reform,
2025
CUNY Graduate Center
Path Dependency And The Politics Of U.S. Health Reform, Sophia Spadafore
Dissertations, Theses, and Capstone Projects
This study examines the impact of path dependency on health reform efforts in the United States, specifically analyzing how past policy decisions constrain subsequent reform possibilities. Utilizing the theoretical framework of historical institutionalism, the study investigates two significant cases—the passage of Medicare and Medicaid in 1965 and the The Patient Protection and Affordable Care Act (ACA) in 2010—to illustrate how successful healthcare reforms embed institutional arrangements that limit future policy innovation. Through a comparative case study approach grounded in legislative records, historical texts, and scholarly analyses, the research highlights that major healthcare reforms in the U.S. have consistently been structured …
A Multi-Site Study Of Clinician Perspectives In The Lifecycle Of An Algorithmic Risk Prediction Tool,
2025
The Texas Medical Center Library
A Multi-Site Study Of Clinician Perspectives In The Lifecycle Of An Algorithmic Risk Prediction Tool, Rita Dexter, Kristin Kostick-Quenet, Jennifer Blumenthal-Barby
Center for Medical Ethics and Health Policy Staff Publications
Recent advancements in the performative capacities of artificial intelligence (AI), machine learning (ML), and algorithmic-based tools open up numerous applications in modern medicine. There are, however, few studies that track the whole lifecycle of a digital healthcare tool as it evolves from conception, to design, and deployment in real world settings-especially with a focus on the social dynamics amongst the end-users of the tool: clinicians. In this paper, we present data from a multi-site, 5-year study focused on the development and deployment of an algorithmic risk calculator (HeartMate 3 Risk Score) into a validated and efficacy tested clinical decision support …
International Society For Cell & Gene Therapy Expanded Access Working Group Position Paper: Key Considerations To Support Equitable And Ethical Expanded Access To Investigational Cell- And Gene-Based Interventions,
2025
The Texas Medical Center Library
International Society For Cell & Gene Therapy Expanded Access Working Group Position Paper: Key Considerations To Support Equitable And Ethical Expanded Access To Investigational Cell- And Gene-Based Interventions, Elena Maryamchik, Laertis Ikonomou, Beth E Roxland, Felix Grignon, Bruce L Levine, Bambi J Grilley
Center for Medical Ethics and Health Policy Staff Publications
This position paper reviews the Expanded Access pathway for cell and gene therapies, examining its critical role at the nexus of patient need, regulatory frameworks, and scientific advancement. Spearheaded by the International Society for Cell & Gene Therapy's Expanded Access Working Group, it explores how investigational therapies are accessed outside of clinical trials for patients with serious or life-threatening conditions when no approved alternatives exist. Access to cell and gene therapy products are of specific interest to patients because many times the products are bespoke, being used to treat serious and/or incurable conditions, and are potentially curative. As the field …
Genome-Wide Analyses Identify 30 Loci Associated With Obsessive-Compulsive Disorder,
2025
The Texas Medical Center Library
Genome-Wide Analyses Identify 30 Loci Associated With Obsessive-Compulsive Disorder, Nora I Strom, Zachary F Gerring, Marco Galimberti, Dongmei Yu, Matthew W Halvorsen, Abdel Abdellaoui, Cristina Rodriguez-Fontenla, Julia M Sealock, Tim Bigdeli, Jonathan R Coleman, Behrang Mahjani, Jackson G Thorp, Katharina Bey, Christie L Burton, Jurjen J Luykx, Gwyneth Zai, Silvia Alemany, Christine Andre, Kathleen D Askland, Julia Bäckman, Nerisa Banaj, Cristina Barlassina, Judith Becker Nissen, O Joseph Bienvenu, Donald Black, Michael H Bloch, Sigrid Børte, Rosa Bosch, Michael Breen, Brian P Brennan, Helena Brentani, Joseph D Buxbaum, Jonas Bybjerg-Grauholm, Enda M Byrne, Judit Cabana-Dominguez, Beatriz Camarena, Adrian Camarena, Carolina Cappi, Angel Carracedo, Miguel Casas, Maria Cristina Cavallini, Valentina Ciullo, Edwin H Cook, Jesse Crosby, Bernadette A Cullen, Elles J De Schipper, Richard Delorme, Srdjan Djurovic, Jason A Elias, Xavier Estivill, Martha J Falkenstein, Bengt T Fundin, Lauryn Garner, Christina Gironda, Fernando S Goes, Marco A Grados, Jakob Grove, Wei Guo, Jan Haavik, Kristen Hagen, Kelly Harrington, Alexandra Havdahl, Kira D Höffler, Ana G Hounie, Donald Hucks, Christina Hultman, Magdalena Janecka, Eric Jenike, Elinor K Karlsson, Kara Kelley, Julia Klawohn, Janice E Krasnow, Kristi Krebs, Christoph Lange, Nuria Lanzagorta, Daniel Levey, Kerstin Lindblad-Toh, Fabio Macciardi, Brion Maher, Brittany Mathes, Evonne Mcarthur, Nathaniel Mcgregor, Nicole C Mclaughlin, Sandra Meier, Euripedes C Miguel, Maureen Mulhern, Paul S Nestadt, Erika L Nurmi, Kevin S O'Connell, Lisa Osiecki, Olga Therese Ousdal, Teemu Palviainen, Nancy L Pedersen, Fabrizio Piras, Federica Piras, Sriramya Potluri, Raquel Rabionet, Alfredo Ramirez, Scott Rauch, Abraham Reichenberg, Mark A Riddle, Stephan Ripke, Maria C Rosário, Aline S Sampaio, Miriam A Schiele, Anne Heidi Skogholt, Laura G Sloofman, Jan Smit, María Soler Artigas, Laurent F Thomas, Eric Tifft, Homero Vallada, Nathanial Van Kirk, Jeremy Veenstra-Vanderweele, Nienke N Vulink, Christopher P Walker, Ying Wang, Jens R Wendland, Bendik S Winsvold, Yin Yao, Hang Zhou, Estonian Biobank, 23andme Inc, Arpana Agrawal, Pino Alonso, Götz Berberich, Kathleen K Bucholz, Cynthia M Bulik, Danielle Cath, Damiaan Denys, Valsamma Eapen, Howard Edenberg, Peter Falkai, Thomas V Fernandez, Abby J Fyer, J M Gaziano, Dan A Geller, Hans J Grabe, Benjamin D Greenberg, Gregory L Hanna, Ian B Hickie, David M Hougaard, Norbert Kathmann, James Kennedy, Dongbing Lai, Mikael Landén, Stéphanie Le Hellard, Marion Leboyer, Christine Lochner, James T Mccracken, Sarah E Medland, Preben B Mortensen, Benjamin M Neale, Humberto Nicolini, Merete Nordentoft, Michele Pato, Carlos Pato, David L Pauls, John Piacentini, Christopher Pittenger, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Steven A Rasmussen, Margaret A Richter, David R Rosenberg, Stephan Ruhrmann, Jack F Samuels, Sven Sandin, Paul Sandor, Gianfranco Spalletta, Dan J Stein, S Evelyn Stewart, Eric A Storch, Barbara E Stranger, Maurizio Turiel, Thomas Werge, Ole A Andreassen, Anders D Børglum, Susanne Walitza, Kristian Hveem, Bjarne K Hansen, Christian Rück, Nicholas G Martin, Lili Milani, Ole Mors, Ted Reichborn-Kjennerud, Marta Ribasés, Gerd Kvale, David Mataix-Cols, Katharina Domschke, Edna Grünblatt, Michael Wagner, John-Anker Zwart, Gerome Breen, Gerald Nestadt, Jaakko Kaprio, Paul D Arnold, Dorothy E Grice, James A Knowles, Helga Ask, Karin J Verweij, Lea K Davis, Dirk J Smit, James J Crowley, Jeremiah M Scharf, Murray B Stein, Joel Gelernter, Carol A Mathews, Eske M Derks, Manuel Mattheisen
Center for Medical Ethics and Health Policy Staff Publications
Obsessive-compulsive disorder (OCD) affects ~1% of children and adults and is partly caused by genetic factors. We conducted a genome-wide association study (GWAS) meta-analysis combining 53,660 OCD cases and 2,044,417 controls and identified 30 independent genome-wide significant loci. Gene-based approaches identified 249 potential effector genes for OCD, with 25 of these classified as the most likely causal candidates, including WDR6, DALRD3 and CTNND1 and multiple genes in the major histocompatibility complex (MHC) region. We estimated that ~11,500 genetic variants explained 90% of OCD genetic heritability. OCD genetic risk was associated with excitatory neurons in the hippocampus and the cortex, along …
Promises And Pitfalls Of Preimplantation Genetic Testing For Polygenic Disorders: A Narrative Review,
2025
The Texas Medical Center Library
Promises And Pitfalls Of Preimplantation Genetic Testing For Polygenic Disorders: A Narrative Review, Jaime A Roura-Monllor, Zachary Walker, Joel M Reynolds, Greysha Rivera-Cruz, Avner Hershlag, Gheona Altarescu, Sigal Klipstein, Stacey Pereira, Gabriel Lázaro-Muñoz, Shai Carmi, Todd Lencz, Ruth Bunker Lathi
Center for Medical Ethics and Health Policy Staff Publications
Preimplantation genetic testing for polygenic disorders (PGT-P) has been commercially available since 2019. PGT-P makes use of polygenic risk scores for conditions which are multifactorial and are significantly influenced by environmental and lifestyle factors. If current predictions are accurate, then absolute risk reductions range from about 0.02% to 10.1%, meaning that between 10 and 5,000 in vitro fertilization patients would need to be tested with PGT-P to prevent one offspring from becoming affected in the future, depending on the condition and the number of embryos available. Survey and interview data reveal that patients and the public have largely favorable views …
Availability And Distribution Of Stoma Bags For Colorectal Cancer Patients: A Case Study At National Referral And Private Hospitals,
2025
Universitas Indonesia, Depok
Availability And Distribution Of Stoma Bags For Colorectal Cancer Patients: A Case Study At National Referral And Private Hospitals, Ratna Aryani, Toar Jm Lalisang, Debie Dahlia, Evi Martha, Achir Yani S Hamid, Sukma Wicaturatmashudi, Helen Helen
Kesmas
Stoma bags are essential for colorectal cancer (CRC) patients with stomas. However, access and affordability in Indonesia remain challenging as the National Health Insurance (NHI) does not fully cover these devices. This study aimed to describe the availability and distribution of stoma bags for patients with CRC in national referral and private hospitals, focusing on outpatient access. A qualitative case study was conducted through observations and in-depth interviews with four enterostomal therapy nurses and six patients across three national referral hospitals and one private hospital in the Jakarta Metropolitan Area, Indonesia. Notably, the availability of stoma bags was limited in …
