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Liver Disease And Transplantation In Telomere Biology Disorders: An International Multicenter Cohort, Sharon A Savage, Alison A Bertuch Jan 2025

Liver Disease And Transplantation In Telomere Biology Disorders: An International Multicenter Cohort, Sharon A Savage, Alison A Bertuch

Faculty, Staff and Students Publications

Rare germline pathogenic variants (GPVs) in genes essential in telomere length maintenance and function have been implicated in two broad classes of human disease. The telomere biology disorders (TBDs) are a spectrum of life-threatening conditions, including bone marrow failure, liver and lung disease, cancer and other complications caused by GPVs in telomere maintenance genes that result in short and/or dysfunctional telomeres and reduced cellular replicative capacity. In contrast, cancer predisposition with long telomeres (CPLT) is a disorder associated with elevated risk of a variety of cancers, primarily melanoma, thyroid cancer, sarcoma, glioma and lymphoproliferative neoplasms caused by GPVs in shelterin …


Multidisciplinary Approach To Treating Complex Immune Dysregulation Disorders: An Adaptive Model For Institutional Implementation, Lauren A Henderson, Roshini S Abraham, Aisha Ahmed, Lindsey Blount, Scott W Canna, Natalia S Chaimowitz, Shanmuganathan Chandrakasan, Bria Coates, James A Connelly, Megan A Cooper, Christine N Duncan, Anthony French, Melissa Hazen, Michelle L Hermiston, Brian Nolan, Anish Ray, Melissa J Rose, Lisa Forbes Satter, Grant Schulert, Sara Kristen Sexson Tejtel, Tiphanie Vogel, Kelly Walkovich, Matt S Zinter, Edward M Behrens Jan 2025

Multidisciplinary Approach To Treating Complex Immune Dysregulation Disorders: An Adaptive Model For Institutional Implementation, Lauren A Henderson, Roshini S Abraham, Aisha Ahmed, Lindsey Blount, Scott W Canna, Natalia S Chaimowitz, Shanmuganathan Chandrakasan, Bria Coates, James A Connelly, Megan A Cooper, Christine N Duncan, Anthony French, Melissa Hazen, Michelle L Hermiston, Brian Nolan, Anish Ray, Melissa J Rose, Lisa Forbes Satter, Grant Schulert, Sara Kristen Sexson Tejtel, Tiphanie Vogel, Kelly Walkovich, Matt S Zinter, Edward M Behrens

Faculty, Staff and Students Publications

Patients with immune dysregulation may present with varying combinations of autoimmunity, autoinflammation, immunodeficiency, atopy, lymphoproliferation, and/or malignancy, often with multisystem involvement. Recognizing specific patterns of immune dysregulation, coordinating and interpreting complex diagnostic testing, and choosing initial (often empiric) treatment can be challenging. Centers are increasingly assembling multidisciplinary teams (MDTs) to standardize evaluation and optimize treatment of patients with complex immune dysregulation (immune dysregulation MDTs [immMDTs]). However, published information on the composition and function of immMDTs is sparse, and there is little guidance for those seeking to establish or optimize an immMDT. To inform this review, we assembled a panel of …


Hypertriglyceridemia In New-Onset Type 1 Pediatric Diabetes, Colleen A Macke, Iman Al-Gadi, Nidhi Bansal, Sarah K Lyons, Aikaterini A Nella Jan 2025

Hypertriglyceridemia In New-Onset Type 1 Pediatric Diabetes, Colleen A Macke, Iman Al-Gadi, Nidhi Bansal, Sarah K Lyons, Aikaterini A Nella

Faculty, Staff and Students Publications

Hypertriglyceridemia (HTG) in the setting of newly diagnosed diabetes is common in both adult and pediatric populations, as insulin deficiency promotes lipolysis and impairs triglyceride (TG) clearance. Severe HTG (defined as TG levels above 1000 mg/dL) in pediatric patients with new-onset type 1 diabetes mellitus (T1D) is rare; the true incidence and sequela of this phenomenon have not been well characterized. We present a single-center experience on severe HTG in pediatric patients with new-onset T1D between 2013 and 2022 and summarize the cases previously reported in the literature. Our cases display variability in their presentation and in their association with …


Resilience Of The Gut Microbiome To Short Proton Pump Inhibitor Therapy With Or Without High-Dosage L Reuteri In H Pylori-Infected Adults, Stefano Bibbò, Gustav Ahlström, Giovanni Mario Pes, David Y Graham, Lars Engstrand, Elettra Merola, Maria Pina Dore Jan 2025

Resilience Of The Gut Microbiome To Short Proton Pump Inhibitor Therapy With Or Without High-Dosage L Reuteri In H Pylori-Infected Adults, Stefano Bibbò, Gustav Ahlström, Giovanni Mario Pes, David Y Graham, Lars Engstrand, Elettra Merola, Maria Pina Dore

Faculty, Staff and Students Publications

Background: Helicobacter pylori eradication therapy typically consists of a combination of antibiotics and an antisecretory drug. Probiotics may be added to reduce side effects and possibly improve outcomes.

Materials and methods: We conducted a double-blind, randomized trial of pantoprazole plus either Lactobacillus reuteri (Gastrus) (high dose) or a matching placebo to assess the impact on the gut microbiota of H. pylori-positive adults. Fecal samples were collected at baseline and after one and 2 months for shotgun metagenomic sequencing.

Results: A total of 26 patients were recruited and completed therapy. L. reuteri was only detected in the group that received supplemental …


Recessive Loss-Of-Function Variants In Dph1 Identified As The Molecular Cause In A Sibling Pair Previously Diagnosed With Fine-Lubinsky Syndrome, Emily R Waskow, Lisa T Emrick, Jill A Rosenfeld, Shamika Ketkar, Lindsay C Burrage, Daryl A Scott Jan 2025

Recessive Loss-Of-Function Variants In Dph1 Identified As The Molecular Cause In A Sibling Pair Previously Diagnosed With Fine-Lubinsky Syndrome, Emily R Waskow, Lisa T Emrick, Jill A Rosenfeld, Shamika Ketkar, Lindsay C Burrage, Daryl A Scott

Faculty, Staff and Students Publications

Fine-Lubinsky syndrome is a rare clinically defined syndrome sometimes referred to as brachycephaly, deafness, cataract, microstomia, and impaired intellectual development syndrome. Here we provide a clinical and molecular update for a sibling pair diagnosed with Fine-Lubinsky syndrome. An extensive genetic work-up, including chromosomal microarray analysis and quad exome sequencing, was nondiagnostic. However, a research reanalysis of their exome sequencing data revealed that both were homozygous for an intronic c.749+39G>A [NM_001383.6] variant in DPH1. RNAseq analysis performed on RNA from fibroblasts revealed significantly reduced expression of DPH1 transcripts suggestive of abnormal splicing followed by nonsense mediated mRNA decay. Since the …


Deletions In The Cdkl5 5′ Untranslated Region Lead To Cdkl5 Deficiency Disorder, Isabel Haviland, Ralph D Hector, Lindsay C Swanson, Aubrie Soucy Verran, Emma Sherrill, Zoë Frazier, Annemarie M Denny, Jenna Lucash, Bo Zhang, Holly A Dubbs, Eric D Marsh, Judith L Weisenberg, Helen Leonard, Milena Crippa, Francesca Cogliati, Silvia Russo, Bernhard Suter, Rajsekar Rajaraman, Alan K Percy, John M Schreiber, Scott Demarest, Timothy A Benke, Maya Chopra, Timothy W Yu, Heather E Olson Jan 2025

Deletions In The Cdkl5 5′ Untranslated Region Lead To Cdkl5 Deficiency Disorder, Isabel Haviland, Ralph D Hector, Lindsay C Swanson, Aubrie Soucy Verran, Emma Sherrill, Zoë Frazier, Annemarie M Denny, Jenna Lucash, Bo Zhang, Holly A Dubbs, Eric D Marsh, Judith L Weisenberg, Helen Leonard, Milena Crippa, Francesca Cogliati, Silvia Russo, Bernhard Suter, Rajsekar Rajaraman, Alan K Percy, John M Schreiber, Scott Demarest, Timothy A Benke, Maya Chopra, Timothy W Yu, Heather E Olson

Faculty, Staff and Students Publications

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. Deletions affecting the 5' untranslated region (UTR) of CDKL5, which involve the noncoding exon 1 and/or alternatively spliced first exons (exons 1a-e), are uncommonly reported. We describe genetic and phenotypic characteristics for 15 individuals with CDKL5 partial gene deletions affecting the 5' UTR. All individuals presented characteristic features of CDD, including medically refractory infantile-onset epilepsy, global developmental delay, and visual impairment. We performed RNA sequencing on fibroblast samples from three individuals with small deletions involving exons 1 …


Syndromic Forms Of Inherited Retinal Dystrophies: A Comprehensive Molecular Diagnosis Of Consanguineous Pakistani Families Using Capture Panel Sequencing, Aleesha Asghar, Sumbal Wazir, Shehzeen Fatima, Hussan Bilal, Muhammad Shoaib, Saqib Ur Rehman, Sumaira Altaf, Yumei Li, Kiran Afshan, Rui Chen, Sabika Firasat Jan 2025

Syndromic Forms Of Inherited Retinal Dystrophies: A Comprehensive Molecular Diagnosis Of Consanguineous Pakistani Families Using Capture Panel Sequencing, Aleesha Asghar, Sumbal Wazir, Shehzeen Fatima, Hussan Bilal, Muhammad Shoaib, Saqib Ur Rehman, Sumaira Altaf, Yumei Li, Kiran Afshan, Rui Chen, Sabika Firasat

Faculty, Staff and Students Publications

Background: Inherited retinal dystrophies (IRDs) represent a clinically and genetically heterogeneous group of genetic disorders that involve photoreceptors and/or retinal pigment epithelium degeneration. IRDs may occur as an isolated condition or may represent an ocular manifestation of a multisystemic disorder referred as syndromic IRD. To increase the understanding of the molecular determinants of syndromic IRD-related genes in the Pakistani population, we revealed the genetic profile of 13 consanguineous Pakistani families using capture panel sequencing.

Methods: We performed comprehensive molecular testing on 72 IRD segregating Pakistani families using targeted capture panel sequencing of 344 known genes. The pathogenicity of candidate variants …


Comparing Guillain-Barré Syndrome Outcomes Between Rural And Urban Hospitals In The United States: A Retrospective Cohort Study, Anudeep Surendranath, Rahul Damani, Anushareddy Muddasani, Anupam Kumar Gupta Jan 2025

Comparing Guillain-Barré Syndrome Outcomes Between Rural And Urban Hospitals In The United States: A Retrospective Cohort Study, Anudeep Surendranath, Rahul Damani, Anushareddy Muddasani, Anupam Kumar Gupta

Faculty, Staff and Students Publications

Background and purpose: Rural-urban disparities in neurological care have been well documented, but limited data exist regarding Guillain-Barré Syndrome (GBS). This study examines differences in patient demographics, hospital characteristics, and outcomes among GBS admissions to rural versus urban hospitals in the United States.

Methods: Using the 2021 National Inpatient Sample, we conducted a retrospective cohort study of adult hospitalizations with a principal diagnosis of GBS. Hospitals were classified as rural or urban based on U.S. census designations. Multivariate logistic and linear regression models were used to assess associations between hospital location and outcomes, adjusting for demographic, clinical, and hospital-level factors. …


Validation Of The Polish Version Of The Movement Disorder Society Non-Motor Rating Scale (Mds-Nms), Joanna Siuda, Mateusz Toś, Tomasz Chmiela, Andrzej Bogucki, Barbara Borodziuk, Sławomir Budrewicz, Marek Dąbrowski, Marceli Gacan, Agata Gajos, Justyna Gawryluk, Piotr Janik, Justyna Kaczyńska, Ewa Koziorowska-Gawron, Jakub Malkiewicz, Ewa Papuć, Paulina Kaczmarska, Monika Rudzińska-Bar, Jarosław Sławek, Magdalena Wójcik-Pędziwiatr, Luowen Yu, Sheng Luo, Christopher Goetz, Glenn Stebbins, Pablo Martinez-Martin, Tiago Mestre, Alvaro Sanchez-Ferro, Monika Kurtis, Michelle Hyczy De Siqueira Tosin, Roberta Balestrino, Chi-Ying Roy Lin, Carmen Gasca-Salas Jan 2025

Validation Of The Polish Version Of The Movement Disorder Society Non-Motor Rating Scale (Mds-Nms), Joanna Siuda, Mateusz Toś, Tomasz Chmiela, Andrzej Bogucki, Barbara Borodziuk, Sławomir Budrewicz, Marek Dąbrowski, Marceli Gacan, Agata Gajos, Justyna Gawryluk, Piotr Janik, Justyna Kaczyńska, Ewa Koziorowska-Gawron, Jakub Malkiewicz, Ewa Papuć, Paulina Kaczmarska, Monika Rudzińska-Bar, Jarosław Sławek, Magdalena Wójcik-Pędziwiatr, Luowen Yu, Sheng Luo, Christopher Goetz, Glenn Stebbins, Pablo Martinez-Martin, Tiago Mestre, Alvaro Sanchez-Ferro, Monika Kurtis, Michelle Hyczy De Siqueira Tosin, Roberta Balestrino, Chi-Ying Roy Lin, Carmen Gasca-Salas

Faculty, Staff and Students Publications

Aim of the study: We aimed to translate and validate the Polish version of the MDS-NMS and compare it with the original English version.

Clinical rationale for the study: Non-motor symptoms (NMS) affect a significant portion of the Parkinson's disease (PD) patient population and may negatively impact their quality of life. Non-motor symptoms may contribute to an increased sense of illness among patients and to a greater burden upon their caregivers. It is therefore advisable to develop a Polish validation of a reference scale for diagnosing and assessing the severity of NMS.

Material and methods: The MDS-NMS was translated into …


Technical Considerations In The Tcd Evaluation Of Cerebral Circulatory Arrest In Death By Neurological Criteria, Alexandra S Reynolds, Jimmy Suh, Ahmedyar Hasan, Parth Upadhyaya, Venkatakrishna Rajajee, Mohammad I Hirzallah, David M Greer, Aarti Sarwal Jan 2025

Technical Considerations In The Tcd Evaluation Of Cerebral Circulatory Arrest In Death By Neurological Criteria, Alexandra S Reynolds, Jimmy Suh, Ahmedyar Hasan, Parth Upadhyaya, Venkatakrishna Rajajee, Mohammad I Hirzallah, David M Greer, Aarti Sarwal

Faculty, Staff and Students Publications

Background and purpose: Ancillary testing is essential for diagnosing brain death/death by neurologic criteria (BD/DNC) when clinical determination (neurologic exam and apnea testing) cannot be fully or safely performed. Transcranial Doppler ultrasound (TCD) has been recommended as an ancillary test; however, the technical descriptions have been heterogeneous. We aimed to consolidate the technical considerations related to the use of TCD as an ancillary test in the evaluation of BD/DNC.

Methods: We performed a scoping review of the available literature from inception to December 2024. Articles describing TCD as an ancillary test for BD/DNC were included using appropriate Medical Subject Headings …


Pregnancy In Dystonia Or Tourette's Patients With Dbs Fourteen News Cases And A Review Of The Literature, Raja Mehanna, Arjun Tarakad, Lisa Yutong Taneff, Erin Furr Stimming Jan 2025

Pregnancy In Dystonia Or Tourette's Patients With Dbs Fourteen News Cases And A Review Of The Literature, Raja Mehanna, Arjun Tarakad, Lisa Yutong Taneff, Erin Furr Stimming

Faculty, Staff and Students Publications

Background: Deep Brain Stimulation (DBS) has been demonstrated to improve quality of life in patients with refractory dystonia and Tourette's syndrome (TS). Because of the young age at onset of these disorders, and the marked benefit from DBS, pregnancy in patients who have received DBS is becoming a more frequent clinical occurrence, although clear management guidelines are lacking.

Cases: We report 14 new pregnancies in patients with dystonia or TS and DBS.

Literature review: Upon review of the literature, 23 pregnancies in patients with dystonia or TS were previously reported in seven articles.

Conclusion: Based on the available data from …


Clues To Transcription/Replication Collision-Induced Dna Damage: It Was Rnap, In The Chromosome, With The Fork, Matthew B Cooke, Christophe Herman, Priya Sivaramakrishnan Jan 2025

Clues To Transcription/Replication Collision-Induced Dna Damage: It Was Rnap, In The Chromosome, With The Fork, Matthew B Cooke, Christophe Herman, Priya Sivaramakrishnan

Faculty, Staff and Students Publications

DNA replication and RNA transcription processes compete for the same DNA template and, thus, frequently collide. These transcription-replication collisions are thought to lead to genomic instability, which places a selective pressure on organisms to avoid them. Here, we review the predisposing causes, molecular mechanisms, and downstream consequences of transcription-replication collisions (TRCs) with a strong emphasis on prokaryotic model systems, before contrasting prokaryotic findings with cases in eukaryotic systems. Current research points to genomic structure as the primary determinant of steady-state TRC levels and RNA polymerase regulation as the primary inducer of excess TRCs. We review the proposed mechanisms of TRC-induced …


Recognition And Management Of Persistent Chylomicronemia: A Joint Expert Clinical Consensus By The National Lipid Association And The American Society For Preventive Cardiology, Seyedmohammad Saadatagah, Miriam Larouche, Mohammadreza Naderian, Vijay Nambi, Diane Brisson, Iftikhar J Kullo, P Barton Duell, Erin D Michos, Michael D Shapiro, Gerald F Watts, Daniel Gaudet, Christie M Ballantyne Jan 2025

Recognition And Management Of Persistent Chylomicronemia: A Joint Expert Clinical Consensus By The National Lipid Association And The American Society For Preventive Cardiology, Seyedmohammad Saadatagah, Miriam Larouche, Mohammadreza Naderian, Vijay Nambi, Diane Brisson, Iftikhar J Kullo, P Barton Duell, Erin D Michos, Michael D Shapiro, Gerald F Watts, Daniel Gaudet, Christie M Ballantyne

Faculty, Staff and Students Publications

Extreme hypertriglyceridemia, defined as triglyceride (TG) levels ≥1000 mg/dL, is almost always indicative of chylomicronemia. The current diagnostic approach categorizes individuals with chylomicronemia into familial chylomicronemia syndrome (FCS; prevalence 1-10 per million), caused by the biallelic combination of pathogenic variants that impair the lipolytic action of lipoprotein lipase (LPL), or multifactorial chylomicronemia syndrome (MCS, 1 in 500). A pragmatic framework should emphasize the severity of the phenotype and the risk of complications. Therefore, we endorse the term "persistent chylomicronemia (PC)" defined as TG ≥1000 mg/dL in more than half of the measurements to encompass patients with the highest risk for …


Lipoprotein(A) Levels In A Population With Clinical Atherosclerotic Cardiovascular Disease In The United States: A Subanalysis From The Lp(A)Heritage Study, Michael D Shapiro, Tariq M Haddad, Howard S Weintraub, Seth J Baum, Khaled Abdul-Nour, Samiha Sarwat, Vadim Paluy, Wess Boatwright, Auris Browne, Imran Ayaz, Cheryl A Abbas, Christie M Ballantyne Jan 2025

Lipoprotein(A) Levels In A Population With Clinical Atherosclerotic Cardiovascular Disease In The United States: A Subanalysis From The Lp(A)Heritage Study, Michael D Shapiro, Tariq M Haddad, Howard S Weintraub, Seth J Baum, Khaled Abdul-Nour, Samiha Sarwat, Vadim Paluy, Wess Boatwright, Auris Browne, Imran Ayaz, Cheryl A Abbas, Christie M Ballantyne

Faculty, Staff and Students Publications

Background: Elevated lipoprotein(a) (Lp[a]) is the most common inherited dyslipidemia that is independently and causally associated with increased atherosclerotic cardiovascular disease (ASCVD) risk. However, data from diverse populations with ASCVD are lacking.

Objective: To evaluate Lp(a) levels in a diverse, contemporary United States (US) population with ASCVD, stratified by race, ethnicity, and sex.

Methods: Lp(a)HERITAGE (NCT03887520) was a multicenter study that estimated the prevalence of elevated Lp(a) in adults (18-80 years) with ASCVD. US participants with Lp(a) measured in nmol/L pre- or post-enrollment were included in this subanalysis. This study was descriptive; therefore, no statistical comparisons were made. …


Sodium-Glucose Cotransporter-2 Inhibitor And Glucagon-Like Peptide-1 Receptor Agonist Discontinuation In Patients With Ckd, L Parker Gregg, Peter A Richardson, Vijay Nambi, Laura A Petersen, Michael E Matheny, Salim S Virani, Sankar D Navaneethan Jan 2025

Sodium-Glucose Cotransporter-2 Inhibitor And Glucagon-Like Peptide-1 Receptor Agonist Discontinuation In Patients With Ckd, L Parker Gregg, Peter A Richardson, Vijay Nambi, Laura A Petersen, Michael E Matheny, Salim S Virani, Sankar D Navaneethan

Faculty, Staff and Students Publications

Key Points:

  1. Treatment discontinuation is common among patients with CKD prescribed sodium-glucose cotransporter-2 (SGLT2) inhibitors (discontinued in 37%) or glucagon-like peptide-1 receptor agonists (GLP-1 RA; discontinued in 47%).

  2. Discontinuation of SGLT2 inhibitors and GLP-1 RA was associated with recent hospitalizations, Black race, Hispanic ethnicity, and vascular disease.

  3. Discontinuation of both agents was associated with death and cardiovascular events.

Background: Little is known about the association of discontinuation of sodium-glucose cotransporter-2 (SGLT2) inhibitors and glucagon-like peptide-1 receptor agonists (GLP-1 RA) with outcomes in patients with CKD.

Methods: We identified adults with CKD stages 3–4 from 2005 to 2022 in the Veterans …


Association Between Parathyroid Hormone Concentration And Incident Atrial Fibrillation In Older Persons With Kidney Failure Initiating Dialysis, Pascale Khairallah, Sai Liu, Maria E Montez-Rath, Kevin F Erickson, Tara I Chang, Wolfgang C Winkelmayer Jan 2025

Association Between Parathyroid Hormone Concentration And Incident Atrial Fibrillation In Older Persons With Kidney Failure Initiating Dialysis, Pascale Khairallah, Sai Liu, Maria E Montez-Rath, Kevin F Erickson, Tara I Chang, Wolfgang C Winkelmayer

Faculty, Staff and Students Publications

Introduction: Atrial fibrillation (AF) is common in persons with kidney failure on hemodialysis. In the general population, higher intact parathyroid hormone (iPTH) levels were found to be associated with presence of AF. Whether iPTH associates with AF in patients on hemodialysis is unknown.

Methods: Using merged USRDS-DaVita data (2006-2011), we selected persons aged 67+ years who initiated hemodialysis and survived 120 days. Eligible persons had continuous Medicare A + B coverage from 2 years prior to kidney failure and no diagnosis of AF. Sociodemographic, comorbidity, and clinical information were abstracted from Medicare forms, billing claims, and electronic health records. iPTH …


Med12 Loss-Of-Function Variants As A Cause Of Congenital Diaphragmatic Hernia In Females With Hardikar Syndrome And Nonspecific Intellectual Disability, Eric C Kao, Elizabeth A Mizerik, Carlos A Bacino, Hongzheng Dai, Liesbeth Vossaert, Daryl A Scott Jan 2025

Med12 Loss-Of-Function Variants As A Cause Of Congenital Diaphragmatic Hernia In Females With Hardikar Syndrome And Nonspecific Intellectual Disability, Eric C Kao, Elizabeth A Mizerik, Carlos A Bacino, Hongzheng Dai, Liesbeth Vossaert, Daryl A Scott

Faculty, Staff and Students Publications

Mediator complex subunit 12 (MED12) is required for the assembly of the kinase module of Mediator, a regulatory complex that controls the formation of the RNA polymerase II-mediated preinitiation complex. MED12-related disorders display unique gender-specific genotype-phenotype associations and include X-linked recessive Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Ohdo syndrome, and nonspecific intellectual disability in males predominantly carrying missense variants, and X-linked dominant Hardikar syndrome and nonspecific intellectual disability in females known to predominantly carry de novo nonsense/frameshift and nonsense/missense variants, respectively. MED12 was previously identified as a low-penetrance candidate gene for non-isolated congenital diaphragmatic hernia (CDH+). At the time, however, there was …


Refinement Of A Published Gene-Physical Activity Interaction Impacting Hdl-Cholesterol: Role Of Sex And Lipoprotein Subfractions, Kenneth E Westerman, Tuomas O Kilpeläinen, Magdalena Sevilla-Gonzalez, Margery A Connelly, Alexis C Wood, Michael Y Tsai, Kent D Taylor, Stephen S Rich, Jerome I Rotter, James D Otvos, Amy R Bentley, Samia Mora, Hugues Aschard, D C Rao, Charles Gu, Daniel I Chasman, Alisa K Manning Jan 2025

Refinement Of A Published Gene-Physical Activity Interaction Impacting Hdl-Cholesterol: Role Of Sex And Lipoprotein Subfractions, Kenneth E Westerman, Tuomas O Kilpeläinen, Magdalena Sevilla-Gonzalez, Margery A Connelly, Alexis C Wood, Michael Y Tsai, Kent D Taylor, Stephen S Rich, Jerome I Rotter, James D Otvos, Amy R Bentley, Samia Mora, Hugues Aschard, D C Rao, Charles Gu, Daniel I Chasman, Alisa K Manning

Faculty, Staff and Students Publications

Large-scale gene-environment interaction (GxE) discovery efforts often involve analytical compromises for the sake of data harmonization and statistical power. Refinement of exposures, covariates, outcomes, and population subsets may be helpful to establish often-elusive replication and evaluate potential clinical utility. Here, we used additional datasets, an expanded set of statistical models, and interrogation of lipoprotein metabolism via nuclear magnetic resonance (NMR)-based lipoprotein subfractions to refine a previously discovered GxE modifying the relationship between physical activity (PA) and HDL-cholesterol (HDL-C). We explored this GxE in the Women’s Genome Health Study (WGHS; N=23,294; the strongest cohort-specific signal in the original meta-analysis), the UK …


General Kernel Machine Methods For Multi-Omics Integration And Genome-Wide Association Testing With Related Individuals, Amarise Little, Ni Zhao, Anna Mikhaylova, Angela Zhang, Wodan Ling, Florian Thibord, Andrew D Johnson, Laura M Raffield, Joanne E Curran, John Blangero, Jeffrey R O'Connell, Huichun Xu, Jerome I Rotter, Stephen S Rich, Kenneth M Rice, Ming-Huei Chen, Alexander Reiner, Charles Kooperberg, Thao Vu, Lifang Hou, Myriam Fornage, Ruth J F Loos, Eimear Kenny, Rasika Mathias, Lewis Becker, Albert V Smith, Eric Boerwinkle, Bing Yu, Timothy Thornton, Michael C Wu Jan 2025

General Kernel Machine Methods For Multi-Omics Integration And Genome-Wide Association Testing With Related Individuals, Amarise Little, Ni Zhao, Anna Mikhaylova, Angela Zhang, Wodan Ling, Florian Thibord, Andrew D Johnson, Laura M Raffield, Joanne E Curran, John Blangero, Jeffrey R O'Connell, Huichun Xu, Jerome I Rotter, Stephen S Rich, Kenneth M Rice, Ming-Huei Chen, Alexander Reiner, Charles Kooperberg, Thao Vu, Lifang Hou, Myriam Fornage, Ruth J F Loos, Eimear Kenny, Rasika Mathias, Lewis Becker, Albert V Smith, Eric Boerwinkle, Bing Yu, Timothy Thornton, Michael C Wu

Faculty, Staff and Student Publications

Integrating multi-omics data may help researchers understand the genetic underpinnings of complex traits and diseases. However, the best ways to integrate multi-omics data and use them to address pressing scientific questions remain a challenge. One important and topical problem is how to assess the aggregate effect of multiple genomic data types (e.g. genotypes and gene expression levels) on a phenotype, particularly while accommodating routine issues, such as having related subjects' data in analyses. In this paper, we extend an existing composite kernel machine regression model to integrate two multi-omics data types, while accommodating for general correlation structures amongst outcomes. Due …


Molecular Evidence Of Brucella Abortus Circulating In Cattle, Goats, And Humans In Central Equatoria State, South Sudan, Emmanuel Philip Lasuba Lita, Ernatus M. Mkupas, Erneo B. Och, Gerald Misinzo, Henriette Van Heerden, Robab Katani, Jacques Godfroid, Coletha Mathew Jan 2025

Molecular Evidence Of Brucella Abortus Circulating In Cattle, Goats, And Humans In Central Equatoria State, South Sudan, Emmanuel Philip Lasuba Lita, Ernatus M. Mkupas, Erneo B. Och, Gerald Misinzo, Henriette Van Heerden, Robab Katani, Jacques Godfroid, Coletha Mathew

All Rsif Scholars' Publications

Brucellosis is a neglected zoonotic disease in most developing countries, including South Sudan. Precise identification of Brucella species is crucial for addressing public health and epidemiological concerns associated with brucellosis. The study aimed to identify Brucella species using real-time polymerase chain reaction (qPCR) from seropositive samples that were acquired from an earlier investigation. A total of 143 genomic DNA samples were extracted from brucellosis Rose Bengal plate test (RBPT) seropositive samples from humans (n=7), cattle (n=103) and goats (n=33). The samples were collected from Terekeka and Juba counties, Central Equatoria State (CES), South Sudan. The qPCR targeting the Brucella-specific IS711 …


Sustaining Substance Use Recovery Housing For People Taking Medications For Opioid Use Disorder: Diverse Funding, Strategic Partnerships, And Charging Rent, I Niles Zoschke, Kathryn R Gallardo, Danielle Gillespie, Hannah L N Stewart, Serena A Rodriguez, Sheryl A Mccurdy, J Michael Wilkerson Jan 2025

Sustaining Substance Use Recovery Housing For People Taking Medications For Opioid Use Disorder: Diverse Funding, Strategic Partnerships, And Charging Rent, I Niles Zoschke, Kathryn R Gallardo, Danielle Gillespie, Hannah L N Stewart, Serena A Rodriguez, Sheryl A Mccurdy, J Michael Wilkerson

Faculty, Staff and Student Publications

Introduction: Opioid use disorder is a U.S. epidemic, and recovery housing plays a critical role by providing stable, supportive environments that promote long-term recovery. However, little is known about the sustainability of recovery homes, particularly those serving people taking medications for opioid use disorder.

Methods: We applied thematic analysis to interviews with 29 staff and operators from 10 recovery homes serving people taking medications for opioid use disorder across five Texas cities.

Results: Operators relied on diverse funding sources, leveraged strategic partnerships and professional certifications, and planned to charge rent when public funding ended. Staff and operators balanced financial sustainability …


Dental Care Trajectories Among Formerly Incarcerated Older Adults In The United States, Alexander Testa, Luis Mijares, Mateus Renno Santos, Vahed Maroufy, Dylan B Jackson, Rafael Samper-Ternent, Rahma Mungia, Ana C Neumann Jan 2025

Dental Care Trajectories Among Formerly Incarcerated Older Adults In The United States, Alexander Testa, Luis Mijares, Mateus Renno Santos, Vahed Maroufy, Dylan B Jackson, Rafael Samper-Ternent, Rahma Mungia, Ana C Neumann

Faculty, Staff and Student Publications

A growing body of research has documented an association between prior incarceration and lower dental care use, yet the longitudinal impact of prior incarceration on dental care patterns over time among older adults remains unexplored. This study aims to investigate whether prior incarceration is associated with differing trajectories of dental care use among older adults in the United States. Data were drawn from the 2012-2020 waves of the Health and Retirement Study (HRS), a nationally representative longitudinal survey of older adults in the United States (n =  5,893). Group-based trajectory modeling was used to estimate dental care use patterns over …


Assessing Sun Protection Policies In Texas School Districts Located In Counties With The Lowest And Highest Melanoma Risk: Content Analysis And Cross-Sectional Study, Nabeel Ahmad, Brooke Bartley, Stephanie Zhang, Madison M Taylor, Karl Schrader, Kehe Zhang, Hung Quoc Doan, Cici Bauer, Kelly C Nelson, Jennifer Cofer Jan 2025

Assessing Sun Protection Policies In Texas School Districts Located In Counties With The Lowest And Highest Melanoma Risk: Content Analysis And Cross-Sectional Study, Nabeel Ahmad, Brooke Bartley, Stephanie Zhang, Madison M Taylor, Karl Schrader, Kehe Zhang, Hung Quoc Doan, Cici Bauer, Kelly C Nelson, Jennifer Cofer

Faculty, Staff and Student Publications

Introduction

School policy can encourage sun safe habits, such as wearing hats and applying sunscreen. However, sun safety policies (SSP) have not been formally assessed for Texas independent school districts (ISDs), particularly in counties with the highest melanoma incidence relative risk (RR). This study aims to assess the presence, strength, and intent of SSPs across Texas ISDs located in counties with the highest and lowest melanoma incidence. We also identify factors correlated with stronger SSP.

Methods

Eleven components of SSPs from 102 ISDs were evaluated in this cross-sectional study by examining school district websites, official documents, social media, media appearances, …


Impact Of Pre-Transplant Immune Checkpoint Inhibitor Use On Post-Transplant Outcomes In Hcc: A Systematic Review And Individual Patient Data Meta-Analysis, Mohammad Saeid Rezaee-Zavareh, Yee Hui Yeo, Tielong Wang, Zhiyong Guo, Parissa Tabrizian, Stephen C Ward, Fatma Barakat, Tarek I Hassanein, Shravan Dave, Veeral Ajmera, Sherrie Bhoori, Vincenzo Mazzaferro, David M H Chascsa, Margaret C Liu, Elizabeth S Aby, John R Lake, Miguel Sogbe, Bruno Sangro, Maen Abdelrahim, Abdullah Esmail, Andreas Schmiderer, Yasmina Chouik, Mark Rudolph, Davendra Sohal, Heloise Giudicelli, Manon Allaire, Mehmet Akce, Jessica Guadagno, Clara Y Tow, Hatef Massoumi, Paolo De Simone, Elise Kang, Robyn D Gartrell, Mercedes Martinez, Ricardo Paz-Fumagalli, Beau B Toskich, Nguyen H Tran, Gabriela Azevedo Solino, Dra Mariana Poltronieri Pacheco, Richard S Kalman, Vatche G Agopian, Neil Mehta, Neehar D Parikh, Amit G Singal, Ju Dong Yang Jan 2025

Impact Of Pre-Transplant Immune Checkpoint Inhibitor Use On Post-Transplant Outcomes In Hcc: A Systematic Review And Individual Patient Data Meta-Analysis, Mohammad Saeid Rezaee-Zavareh, Yee Hui Yeo, Tielong Wang, Zhiyong Guo, Parissa Tabrizian, Stephen C Ward, Fatma Barakat, Tarek I Hassanein, Shravan Dave, Veeral Ajmera, Sherrie Bhoori, Vincenzo Mazzaferro, David M H Chascsa, Margaret C Liu, Elizabeth S Aby, John R Lake, Miguel Sogbe, Bruno Sangro, Maen Abdelrahim, Abdullah Esmail, Andreas Schmiderer, Yasmina Chouik, Mark Rudolph, Davendra Sohal, Heloise Giudicelli, Manon Allaire, Mehmet Akce, Jessica Guadagno, Clara Y Tow, Hatef Massoumi, Paolo De Simone, Elise Kang, Robyn D Gartrell, Mercedes Martinez, Ricardo Paz-Fumagalli, Beau B Toskich, Nguyen H Tran, Gabriela Azevedo Solino, Dra Mariana Poltronieri Pacheco, Richard S Kalman, Vatche G Agopian, Neil Mehta, Neehar D Parikh, Amit G Singal, Ju Dong Yang

Faculty, Staff and Student Publications

Background & aims: Treatment with immune checkpoint inhibitors (ICIs) for hepatocellular carcinoma (HCC) prior to liver transplantation (LT) has been reported; however, ICIs may elevate the risk of allograft rejection and impact other clinical outcomes. This study aims to summarize the impact of ICI use on post-LT outcomes.

Methods: In this individual patient data meta-analysis, we searched databases to identify HCC cases treated with ICIs before LT, detailing allograft rejection, HCC recurrence, and overall survival. We performed Cox regression analysis to identify risk factors for allograft rejection.

Results: Among 91 eligible patients, with a median (IQR) follow-up of 690.0 (654.5) …


Risk Of Post-Acute Symptoms Among Adults: A Comparison Study Of Severe Covid-19, Pneumonia, And Influenza, Caroline M Schaefer, Trudy Millard Krause, George L Delclos, Raymond S Greenberg Jan 2025

Risk Of Post-Acute Symptoms Among Adults: A Comparison Study Of Severe Covid-19, Pneumonia, And Influenza, Caroline M Schaefer, Trudy Millard Krause, George L Delclos, Raymond S Greenberg

Faculty, Staff and Student Publications

Background: A retrospective cohort study was undertaken to assess the relationship between initial disease severity of COVID-19 and the risk of post-acute symptoms. The COVID-19 cohort was compared against influenza and pneumonia cohorts to assess whether risk of post-acute symptoms differed.

Methods: Administrative health claims data were obtained for commercially insured and Medicare Advantage covered adults (≥ 18 years) with symptomatic laboratory-confirmed COVID-19 diagnosed in 2020 (n=121,205), and similar cohorts of influenza (n=20,844) and pneumonia (n=29,052) patients diagnosed prior to the pandemic. Post-acute symptoms were assessed at four weeks, three and six months following initial diagnosis.

Results: Among the patients …


Protocol For The Houston Hospital-Based Violence Intervention Program, Alexander Testa, Eresha Bluth, Latanya Monroe, Karlton Harris, Sarah Beth Abbott, Mary E Aitken, Erin E Fox, Brian Heckler, Lillian S Kao, Ruosha Li, Susannah Meg Michael, Heidi M Mcpherson, Marisol Nieves, Christian P Owen, Kevin Rix, Hema Sarvani Jalaparthi, Vanessa Schick, Shreela V Sharma, Carlie Stratemann, Anne Marie V Thompson, Jack Tsai, Zixi Yang, Sandra Mckay Jan 2025

Protocol For The Houston Hospital-Based Violence Intervention Program, Alexander Testa, Eresha Bluth, Latanya Monroe, Karlton Harris, Sarah Beth Abbott, Mary E Aitken, Erin E Fox, Brian Heckler, Lillian S Kao, Ruosha Li, Susannah Meg Michael, Heidi M Mcpherson, Marisol Nieves, Christian P Owen, Kevin Rix, Hema Sarvani Jalaparthi, Vanessa Schick, Shreela V Sharma, Carlie Stratemann, Anne Marie V Thompson, Jack Tsai, Zixi Yang, Sandra Mckay

Faculty, Staff and Student Publications

Firearm violence is a leading cause of injury and mortality in the United States. Hospital-based violence intervention programs (HVIPs) are a promising public health strategy designed to reduce recurrent violence by engaging patients during hospitalization and connecting them to support services after discharge. This protocol describes the design and implementation of the Houston Hospital-Based Violence Intervention Program (Houston-HVIP), which will be evaluated by a randomized controlled trial conducted at a Level 1 trauma center in Houston, Texas. The study plans to enroll individuals aged 16-35 who present with gunshot wounds (GSW) at the Level 1 trauma center. Participants are randomized …


Hazardous Work Exposures And Working Conditions And The Risk Of Serious Injury Among Latino Day Laborers In Houston, Texas (2014–2021), Maria Eugenia Fernandez-Esquer, Cesar Leonardo Pinzon-Gomez, Celeste Monforton, Yuan Li, Vahed Maroufy, Martha Ojeda, Anabel Rodriguez Jan 2025

Hazardous Work Exposures And Working Conditions And The Risk Of Serious Injury Among Latino Day Laborers In Houston, Texas (2014–2021), Maria Eugenia Fernandez-Esquer, Cesar Leonardo Pinzon-Gomez, Celeste Monforton, Yuan Li, Vahed Maroufy, Martha Ojeda, Anabel Rodriguez

Faculty, Staff and Student Publications

Introduction: Latino day laborers (LDLs) are frequently exposed to workplace hazards that increase their risk of an injury. The purpose of this study was to assess the relative influence of worker and workplace characteristics on serious injuries reported by LDLs at four different time points. We examined the influence of demographic characteristics, hazardous chemical exposures and working conditions using data from four cross-sectional surveys conducted between 2014 and 2021.

Methods: A total of 740 LDL were randomly recruited from public job hiring locations (known as "corners") in Houston Texas to participate in surveys conducted as part of injury risk reduction …


Improved Depression Symptoms Among Low-Income Mexican Americans Participating In A Community-Clinical Diabetes Intervention, Minjae Lee, Joseph H Conroy, Zihan Yang, Sein Lee, Paul G Yeh, Juliana Z Lopez, Natalia I Heredia, Lisa A Mitchell-Bennett, Maribel Sifuentes, Belinda M Reininger Jan 2025

Improved Depression Symptoms Among Low-Income Mexican Americans Participating In A Community-Clinical Diabetes Intervention, Minjae Lee, Joseph H Conroy, Zihan Yang, Sein Lee, Paul G Yeh, Juliana Z Lopez, Natalia I Heredia, Lisa A Mitchell-Bennett, Maribel Sifuentes, Belinda M Reininger

Faculty, Staff and Student Publications

Background: Adults with type 2 diabetes mellitus and comorbid depression face complex disease management. Salud y Vida, a diabetes management intervention for Mexican Americans in the Rio Grande Valley of Texas, may mitigate depression through social support and community-clinic referrals.

Methods: In a cohort study, 292 Salud y Vida participants completed the patient health questionnaire (PHQ-9) at baseline, month 6, and month 12. A PHQ-9 score of ≥5 indicated mild depression and activated a mental health referral. Using SAS 9.4 with significance set at < .05, we conducted multivariable longitudinal negative binomial regression to assess changes in depression level.

Results: The proportion of participants with a PHQ-9 ≥5 decreased from 36% at baseline to 18% …


Effects Of Cognitive Dual-Tasking On Biomechanics And Muscle Activity During Gait Initiation And Sit-To-Walk In Young Adults, Angeloh Stout, Kaye Mabbun, Ke'vaughn Waldon, Marvin Alvarez, Stacy Nguyen, Miguel Barcellano, Sandra Cuenca, Chuan-Fa Tang, Aanand D Naik, Gu Eon Kang Jan 2025

Effects Of Cognitive Dual-Tasking On Biomechanics And Muscle Activity During Gait Initiation And Sit-To-Walk In Young Adults, Angeloh Stout, Kaye Mabbun, Ke'vaughn Waldon, Marvin Alvarez, Stacy Nguyen, Miguel Barcellano, Sandra Cuenca, Chuan-Fa Tang, Aanand D Naik, Gu Eon Kang

Faculty, Staff and Student Publications

The purpose of this study was to investigate the effects of cognitive dual-tasking on gait initiation and sit-to-walk. Twenty-eight healthy young adults performed gait initiation and sit-to-walk under two conditions: while engaging in serial subtraction (dual-task) and without any additional task (single-task). Motion data were collected using a 10-camera optoelectronic motion capture system, synchronized with force plates and surface electromyography. We analyzed spatiotemporal parameters, center of mass displacement, center of pressure trajectory, and lower limb muscle activation patterns. We found that dual-task conditions significantly affected both gait initiation and sit-to-walk patterns, increasing the duration of transitions and mediolateral center of …


A Comparison Of The Effect Of Remimazolam And Midazolam On Recovery And Preserved Memory Function For Patients With Dental Extraction Anxiety, Quan Jing, Weijia Wang, Limeng Wu, Lejunzi Wang, Boru Yuan, Yan Wang, Chengbin Wang, Lin Liu, Lei Guan, Riyue Yu, Yuelun Zhang, Daniel I Sessler, Yuguang Huang, Kuo Wan, Lijian Pei Jan 2025

A Comparison Of The Effect Of Remimazolam And Midazolam On Recovery And Preserved Memory Function For Patients With Dental Extraction Anxiety, Quan Jing, Weijia Wang, Limeng Wu, Lejunzi Wang, Boru Yuan, Yan Wang, Chengbin Wang, Lin Liu, Lei Guan, Riyue Yu, Yuelun Zhang, Daniel I Sessler, Yuguang Huang, Kuo Wan, Lijian Pei

Faculty, Staff and Student Publications

Purpose: Remimazolam is an ultrashort-acting benzodiazepine, which has been indicated to be effective in endoscopic surgery and general anaesthesia. Research on its use in outpatient dental procedures remains limited. This triple-blinded randomized clinical trial was designed to determine whether the quality of postoperative recovery is better with continuous intravenous remimazolam administration compared with midazolam administration for impacted wisdom tooth extraction in patients with dental anxiety.

Patients and methods: This study was a randomized, parallel triple-blinded, superiority trial conducted between 30 April 2022 and 24 June 2024. Participants aged ≥18 years who exhibited dental anxiety and who were eligible for impacted …