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Full-Text Articles in Medicine and Health Sciences

Bilateral Chylothorax: A Late Complication Of Kawashima Procedure Despite Normal Pulmonary Pressures, Jennifer Adams, Tharak Yarrabolu, Shekhar S. Raj Apr 2022

Bilateral Chylothorax: A Late Complication Of Kawashima Procedure Despite Normal Pulmonary Pressures, Jennifer Adams, Tharak Yarrabolu, Shekhar S. Raj

School of Medicine Publications

Introduction: Chylothorax, a relatively rare congenital heart disease early postoperative complication, is occurring more frequently due to complexity of cardiac surgeries.

Presentation of case: We present a 9-month-old boy who had hypoplastic left heart (HLH) syndrome with interrupted inferior vena cava (IVC) and bilateral superior vena cava (SVC) palliated with left sided modified Blalock-Taussig (MBT) shunt during neonatal period and second stage palliation with left sided bidirectional glen (BDG) procedure and right sided Kawashima procedure develop bilateral chylothorax two weeks after discharge.

Discussion: This is the first reported case in the literature of a patient who developed chylothorax with relatively …


Mendelian Randomization Supports Bidirectional Causality Between Telomere Length And Clonal Hematopoiesis Of Indeterminate Potential, Tetsushi Nakao, Alexander G. Bick, Margaret A. Taub, Seyedeh M. Zekavat, Md M. Uddin, Abhishek Niroula, Juan M. Peralta, Joanne E. Curran, John Blangero Apr 2022

Mendelian Randomization Supports Bidirectional Causality Between Telomere Length And Clonal Hematopoiesis Of Indeterminate Potential, Tetsushi Nakao, Alexander G. Bick, Margaret A. Taub, Seyedeh M. Zekavat, Md M. Uddin, Abhishek Niroula, Juan M. Peralta, Joanne E. Curran, John Blangero

School of Medicine Publications

Human genetic studies support an inverse causal relationship between leukocyte telomere length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL and diverse malignancies. Clonal hematopoiesis of indeterminate potential (CHIP), characterized by expansion of hematopoietic cells bearing leukemogenic mutations, predisposes both hematologic malignancy and CAD. TERT (which encodes telomerase reverse transcriptase) is the most significantly associated germline locus for CHIP in genome-wide association studies. Here, we investigated the relationship between CHIP, LTL, and CAD in the Trans-Omics for Precision Medicine (TOPMed) program (n = 63,302) and UK Biobank (n = 47,080). Bidirectional Mendelian randomization studies …


Brain Charts For The Human Lifespan, R. A. I. Bethlehem, J. Seidlitz, S. R. White, J. W. Vogel, K. Anderson, C. Adamson, S. Adler, G. S. Alexopoulos, E. Anagnostou, John Blangero Apr 2022

Brain Charts For The Human Lifespan, R. A. I. Bethlehem, J. Seidlitz, S. R. White, J. W. Vogel, K. Anderson, C. Adamson, S. Adler, G. S. Alexopoulos, E. Anagnostou, John Blangero

School of Medicine Publications

Over the past few decades, neuroimaging has become a ubiquitous tool in basic research and clinical studies of the human brain. However, no reference standards currently exist to quantify individual differences in neuroimaging metrics over time, in contrast to growth charts for anthropometric traits such as height and weight1. Here we assemble an interactive open resource to benchmark brain morphology derived from any current or future sample of MRI data (http://www.brainchart.io/). With the goal of basing these reference charts on the largest and most inclusive dataset available, acknowledging limitations due to known biases of MRI studies …


Midlife Vascular Factors And Prevalence Of Mild Cognitive Impairment In Late-Life In Mexico, Miguel Arce Renteria, Jennifer J. Manly, Jet M. J. Vonk, Silvia Mejia-Arango, Alejandra Michaels Obregon, Rafael Samper-Ternent, Rebeca Wong, Sandra Barral, Giuseppe Tosto Apr 2022

Midlife Vascular Factors And Prevalence Of Mild Cognitive Impairment In Late-Life In Mexico, Miguel Arce Renteria, Jennifer J. Manly, Jet M. J. Vonk, Silvia Mejia-Arango, Alejandra Michaels Obregon, Rafael Samper-Ternent, Rebeca Wong, Sandra Barral, Giuseppe Tosto

School of Medicine Publications

Objective: To estimate the prevalence of mild cognitive impairment (MCI) and its subtypes and investigate the impact of midlife cardiovascular risk factors on late-life MCI among the aging Mexican population.

Method: Analyses included a sample of non-demented adults over the age of 55 living in both urban and rural areas of Mexico (N = 1807). MCI diagnosis was assigned based on a comprehensive cognitive assessment assessing the domains of memory, executive functioning, language, and visuospatial ability. The normative sample was selected by means of the robust norms approach. Cognitive impairment was defined by a 1.5-SD cut-off per cognitive domain using …


Does Insomnia Increase The Risk Of Suicide In Hospitalized Patients With Major Depressive Disorder? A Nationwide Inpatient Analysis From 2006 To 2015, Zeeshan Mansuri, Abhishek Reddy, Ramu Vadukapuram, Mounica Thootkur, Chintan Trivedi Apr 2022

Does Insomnia Increase The Risk Of Suicide In Hospitalized Patients With Major Depressive Disorder? A Nationwide Inpatient Analysis From 2006 To 2015, Zeeshan Mansuri, Abhishek Reddy, Ramu Vadukapuram, Mounica Thootkur, Chintan Trivedi

School of Medicine Publications

Introduction. nsomnia is an important symptom associated with major depressive disorder (MDD). In addition, it is one of the risk factors for suicide. Studies have shown the relationship be-tween insomnia and suicidal behavior in patients with MDD. However, this association has not been evaluated in a large sample of hospitalized patients.

Objectives. To evaluate the suicidal be-havior in MDD patients with insomnia compared to those without insomnia.

Methods. From the National Inpatient Sample (NIS 2006–2015) database using the ICD-9 code, patients’ data were obtained with the primary diagnosis of MDD and comorbid diagnosis of insomnia disorders (MDD+I). These patients were …


Patients With Chronic Pain Exhibit Individually Unique Cortical Signatures Of Pain Encoding, Astrid Mayr, Pauline Jahn, Anne Stankewitz, Bettina Deak, Anderson M. Winkler, Viktor Witkovsky, Ozan Eren, Andreas Straube, Enrico Schulz Apr 2022

Patients With Chronic Pain Exhibit Individually Unique Cortical Signatures Of Pain Encoding, Astrid Mayr, Pauline Jahn, Anne Stankewitz, Bettina Deak, Anderson M. Winkler, Viktor Witkovsky, Ozan Eren, Andreas Straube, Enrico Schulz

School of Medicine Publications

Chronic pain is characterised by an ongoing and fluctuating intensity over time. Here, we investigated how the trajectory of the patients' endogenous pain is encoded in the brain. In repeated functional MRI (fMRI) sessions, 20 patients with chronic back pain and 20 patients with chronic migraine were asked to continuously rate the intensity of their endogenous pain. Linear mixed effects models were used to disentangle cortical processes related to pain intensity and to pain intensity changes. At group level, we found that the intensity of pain in patients with chronic back pain is encoded in the anterior insular cortex, the …


The Novel Proteomic Signature For Cardiac Allograft Vasculopathy, Dongmei Wei, Sander Trenson, Jan M. Van Keer, Jesus D. Melgarejo, Ella Cutsforth, Lutgarde Thijs, Tianlin He, Agnieszka Latosinska, Agnieszka Ciarka, Thomas Vanassche Apr 2022

The Novel Proteomic Signature For Cardiac Allograft Vasculopathy, Dongmei Wei, Sander Trenson, Jan M. Van Keer, Jesus D. Melgarejo, Ella Cutsforth, Lutgarde Thijs, Tianlin He, Agnieszka Latosinska, Agnieszka Ciarka, Thomas Vanassche

School of Medicine Publications

Aims

Cardiac allograft vasculopathy (CAV) is the major long-term complication after heart transplantation, leading to mortality and re-transplantation. As available non-invasive biomarkers are scarce for CAV screening, we aimed to identify a proteomic signature for CAV.

Methods and results

We measured urinary proteome by capillary electrophoresis coupled with mass spectrometry in 217 heart transplantation recipients (mean age: 55.0 ± 14.4 years; women: 23.5%), including 76 (35.0%) patients with CAV diagnosed by coronary angiography. We randomly and evenly grouped participants into the derivation cohort (n = 108, mean age: 56.4 ± 13.8 years; women: 22.2%; CAV: n = 38) and …


Genetic Variants In Aldh1l1 And Gldc Influence Serine To Glycine Ratio In Hispanic Children, Sergey A. Krupenko, Shelley A. Cole, Ruixue Hou, Karin Haack, Sandra Laston, Nitesh R. Mehta, Anthony G. Comuzzie, Nancy F. Butte, Venkata Saroja Voruganti Apr 2022

Genetic Variants In Aldh1l1 And Gldc Influence Serine To Glycine Ratio In Hispanic Children, Sergey A. Krupenko, Shelley A. Cole, Ruixue Hou, Karin Haack, Sandra Laston, Nitesh R. Mehta, Anthony G. Comuzzie, Nancy F. Butte, Venkata Saroja Voruganti

School of Medicine Publications

Background: Glycine is a proteogenic amino acid that is required for numerous metabolic pathways, including purine, creatine, heme and glutathione biosynthesis. Glycine formation from serine, catalyzed by serine hydroxy methyltransferase, is the major source of this amino acid in humans. Our previous studies in a mouse model have shown a crucial role for the10-formyltetrahydrofolate dehydrogenase (ALDH1L1) enzyme in serine to glycine conversion.

Objectives: To determine the genomic influence on serine-glycine ratio in 803 Hispanic children from 319 families of the Viva La Familia cohort.

Methods: We performed a genome-wide association analysis for plasma serine, glycine, and serine-glycine ratio in SOLAR …


Lactoferrin- And Dendrimer-Bearing Gold Nanocages For Stimulus-Free Dna Delivery To Prostate Cancer Cells, Jamal Almowalad, Partha Laskar, Sukrut Somani, Jitkasem Meewan, Rothwelle J. Tate, Christine Dufès Mar 2022

Lactoferrin- And Dendrimer-Bearing Gold Nanocages For Stimulus-Free Dna Delivery To Prostate Cancer Cells, Jamal Almowalad, Partha Laskar, Sukrut Somani, Jitkasem Meewan, Rothwelle J. Tate, Christine Dufès

School of Medicine Publications

Background: The use of gene therapy to treat prostate cancer is hampered by the lack of effective nanocarriers that can selectively deliver therapeutic genes to cancer cells. To overcome this, we hypothesize that conjugating lactoferrin, a tumor-targeting ligand, and the diaminobutyric polypropylenimine dendrimer into gold nanocages, followed by complexation with a plasmid DNA, would enhance gene expression and anti-proliferation activity in prostate cancer cells without the use of external stimuli.

Methods: Novel gold nanocages bearing lactoferrin and conjugated to diaminobutyric polypropylenimine dendrimer (AuNCs-DABLf) were synthesized and characterized. Following complexation with a plasmid DNA, their gene expression, cellular uptake and antiproliferative …


Clinicians' Perceptions Of The Health Status Of Formerly Detained Immigrants, Kathryn Hampton, Ranit Mishori, Marsha Griffin, Claire Hillier, Elizabeth Pirrotta, Nancy E. Wang Mar 2022

Clinicians' Perceptions Of The Health Status Of Formerly Detained Immigrants, Kathryn Hampton, Ranit Mishori, Marsha Griffin, Claire Hillier, Elizabeth Pirrotta, Nancy E. Wang

School of Medicine Publications

Background: In the past decade, the U.S. immigration detention system regularly detained more than 30,000 people per day; in 2019 prior to the pandemic, the daily detention population exceeded 52,000 people. Inhumane detention conditions have been documented by internal government watchdogs, and news media and human rights groups who have observed over-crowding, poor hygiene and sanitation and poor and delayed medical care, as well as verbal, physical and sexual abuse.

Methods: This study surveyed health professionals across the United States who had provided care for immigrants who were recently released from immigration detention to assess clinician perceptions about the adverse …


Blood-Based Mirna Biomarkers As Correlates Of Brain-Based Mirna Expression, Mark Kos, Sobha Puppala, Dianne Cruz, Jennifer L. Neary, Ashish Kumar, Emma Dalan, Cun Li, Peter Nathanielsz, Melanie A. Carless Mar 2022

Blood-Based Mirna Biomarkers As Correlates Of Brain-Based Mirna Expression, Mark Kos, Sobha Puppala, Dianne Cruz, Jennifer L. Neary, Ashish Kumar, Emma Dalan, Cun Li, Peter Nathanielsz, Melanie A. Carless

School of Medicine Publications

The use of easily accessible peripheral samples, such as blood or saliva, to investigate neurological and neuropsychiatric disorders is well-established in genetic and epigenetic research, but the pathological implications of such biomarkers are not easily discerned. To better understand the relationship between peripheral blood- and brain-based epigenetic activity, we conducted a pilot study on captive baboons (Papio hamadryas) to investigate correlations between miRNA expression in peripheral blood mononuclear cells (PBMCs) and 14 different cortical and subcortical brain regions, represented by two study groups comprised of 4 and 6 animals. Using next-generation sequencing, we identified 362 miRNAs expressed at …


Living Arrangements And Dementia Among The Oldest Old: A Comparison Of Mexicans And Mexican Americans, Phillip A. Cantu, Jiwon Kim, Mariana López-Ortega, Sunshine Rote, Silvia Mejia-Arango, Jacqueline L. Angel Mar 2022

Living Arrangements And Dementia Among The Oldest Old: A Comparison Of Mexicans And Mexican Americans, Phillip A. Cantu, Jiwon Kim, Mariana López-Ortega, Sunshine Rote, Silvia Mejia-Arango, Jacqueline L. Angel

School of Medicine Publications

Background and objectives: The growing population of adults surviving past age 85 in the United States and Mexico raises questions about the living arrangements of the oldest old and those living with dementia. This study compares Mexican and Mexican American individuals aged 85 and older to identify associations with cognitive status and living arrangements in Mexico and the United States.

Research design and methods: This study includes 419 Mexican Americans in 5 southwestern states (Hispanic Established Population for the Epidemiologic Studies of the Elderly) and 687 Mexicans from a nationally representative sample (Mexican Health and Aging Study). It examines characteristics …


Fat As An Adjunct In Nerve Surgery, Allison Podsednik, Raysa Cabrejo, Joseph Rosen Mar 2022

Fat As An Adjunct In Nerve Surgery, Allison Podsednik, Raysa Cabrejo, Joseph Rosen

School of Medicine Publications

No abstract provided.


Ancestral Diversity Improves Discovery And Fine-Mapping Of Genetic Loci For Anthropometric Traits-The Hispanic/Latino Anthropometry Consortium, Lindsay Fernández-Rhodes, Mariaelisa Graff, Victoria L . Buchanan, Anne E. Justice, Heather M. Highland, Xiuqing Guo, Wanying Zhu, John Blangero, Joanne E. Curran, Ravindranath Duggirala Mar 2022

Ancestral Diversity Improves Discovery And Fine-Mapping Of Genetic Loci For Anthropometric Traits-The Hispanic/Latino Anthropometry Consortium, Lindsay Fernández-Rhodes, Mariaelisa Graff, Victoria L . Buchanan, Anne E. Justice, Heather M. Highland, Xiuqing Guo, Wanying Zhu, John Blangero, Joanne E. Curran, Ravindranath Duggirala

School of Medicine Publications

Hispanic/Latinos have been underrepresented in genome-wide association studies (GWAS) for anthropometric traits despite their notable anthropometric variability, ancestry proportions, and high burden of growth stunting and overweight/obesity. To address this knowledge gap, we analyzed densely imputed genetic data in a sample of Hispanic/Latino adults to identify and fine-map genetic variants associated with body mass index (BMI), height, and BMI-adjusted waist-to-hip ratio (WHRadjBMI). We conducted a GWAS of 18 studies/consortia as part of the Hispanic/Latino Anthropometry (HISLA) Consortium (stage 1, n = 59,771) and generalized our findings in 9 additional studies (stage 2, n = 10,538). We conducted a trans-ancestral GWAS …


Impact Of Polygenic Risk For Coronary Artery Disease And Cardiovascular Medication Burden On Cognitive Impairment In Psychotic Disorders, Lusi Zhang, Scot Kristian Hill, Bin Guo, Baolin Wu, Ney Alliey-Rodriguez, Seenae Eum, Paulo Lizano, Elena I. Ivleva, James L. Reilly, Richard S. E. Keefe Mar 2022

Impact Of Polygenic Risk For Coronary Artery Disease And Cardiovascular Medication Burden On Cognitive Impairment In Psychotic Disorders, Lusi Zhang, Scot Kristian Hill, Bin Guo, Baolin Wu, Ney Alliey-Rodriguez, Seenae Eum, Paulo Lizano, Elena I. Ivleva, James L. Reilly, Richard S. E. Keefe

School of Medicine Publications

Background: Cognitive impairment is a core deficit across psychotic disorders, the causes and therapeutics of which remain unclear. Epidemiological observations have suggested associations between cognitive dysfunction in psychotic disorders and cardiovascular risk factors, but an underlying etiology has not been established.

Methods: Neuropsychological performance using the Brief Assessment of Cognition in Schizophrenia (BACS) was assessed in 616 individuals of European ancestry (403 psychosis, 213 controls). Polygenic risk scores for coronary artery disease (PRSCAD) were quantified for each participant across 13 p-value thresholds (PT 0.5-5e-8). Cardiovascular and psychotropic medications were categorized for association analyses. Each PRSCAD was examined in relation to …


The Society Of Vascular And Interventional Neurology (Svin) Mechanical Thrombectomy Registry: Methods And Primary Results, Diogo C. Haussen, Alhamza R. Al-Bayati, Mahmoud H. Mohammaden, Sunil A. Sheth, Sergio Salazar-Marioni, Italo Linfante, Guilherme Dabus, Amy K. Starosciak, Ameer E. Hassan, Wondwossen G. Tekle Mar 2022

The Society Of Vascular And Interventional Neurology (Svin) Mechanical Thrombectomy Registry: Methods And Primary Results, Diogo C. Haussen, Alhamza R. Al-Bayati, Mahmoud H. Mohammaden, Sunil A. Sheth, Sergio Salazar-Marioni, Italo Linfante, Guilherme Dabus, Amy K. Starosciak, Ameer E. Hassan, Wondwossen G. Tekle

School of Medicine Publications

Background

A better understanding of real‐world practice patterns in the endovascular treatment for large vessel occlusion acute ischemic stroke is needed. Here, we report the methods and initial results of the Society of Vascular and Interventional Neurology (SVIN) Registry.

Methods

The SVIN Registry is an ongoing prospective, multicenter, observational registry capturing patients with large vessel occlusion acute ischemic stroke undergoing endovascular treatment since November 2018. Participating sites also contributed pre‐SVIN Registry data collected per institutional prospective registries, and these data were combined with the SVIN Registry in the SVIN Registry+ cohort.

Results

There were 2088 patients treated across 11 US …


Interaction Analysis Of Mrp1 With Anticancer Drugs Used In Ovarian Cancer: In Silico Approach, Absarul Haque, Ghazanfar Ali Baig, Abdulelah Saleh Alshawli, Khalid Hussain Wali Sait, Bilal B. Hafeez, Manish Tripathi, Badrah Saeed Alghamdi, Hani S. H. Mohammed Ali, Mahmood Rasool Mar 2022

Interaction Analysis Of Mrp1 With Anticancer Drugs Used In Ovarian Cancer: In Silico Approach, Absarul Haque, Ghazanfar Ali Baig, Abdulelah Saleh Alshawli, Khalid Hussain Wali Sait, Bilal B. Hafeez, Manish Tripathi, Badrah Saeed Alghamdi, Hani S. H. Mohammed Ali, Mahmood Rasool

School of Medicine Publications

Multidrug resistance (MDR) is one of the major therapeutic challenges that limits the efficacy of chemotherapeutic response resulting in poor prognosis of ovarian cancer (OC). The multidrug resistance protein 1 (MRP1) is a membrane-bound ABC transporter involved in cross resistance to many structurally and functionally diverse classes of anticancer drugs including doxorubicin, taxane, and platinum. In this study, we utilize homology modelling and molecular docking analysis to determine the binding affinity and the potential interaction sites of MRP1 with Carboplatin, Gemcitabine, Doxorubicin, Paclitaxel, and Topotecan. We used AutoDock Vina scores to compare the binding affinities of the anticancer drugs against …


Safety Of Transcatheter Aortic Valve Replacement In Patients With Aortic Aneurysm: A Propensity-Matched Analysis, Justin K. Ugwu, Jideofor K. Ndulue, Khaled A. Sherif, Samson Alliu, Ayman Elbadawi, Tuncay Taskesen, Doha Hussein, Judith N. Ugwu Erugo, Khaled F. Chatila, Ahmed Almustafa Mar 2022

Safety Of Transcatheter Aortic Valve Replacement In Patients With Aortic Aneurysm: A Propensity-Matched Analysis, Justin K. Ugwu, Jideofor K. Ndulue, Khaled A. Sherif, Samson Alliu, Ayman Elbadawi, Tuncay Taskesen, Doha Hussein, Judith N. Ugwu Erugo, Khaled F. Chatila, Ahmed Almustafa

School of Medicine Publications

Introduction

There is a paucity of data regarding the outcomes of transcatheter aortic valve replacement (TAVR) among patients with thoracic or abdominal aortic aneurysms (AA). Using the Nationwide Inpatient Sample (NIS) database, we explored the safety of TAVR among patients with a diagnosis of AA.

Methods

We queried the National Inpatient Sample database (2012–2017) for hospitalized patients undergoing TAVR, using ICD-9 and ICD-10 codes for endovascular TAVR. Reports show that > 95% of endovascular TAVR in the US is via transfemoral access, so our population are mostly patients undergoing transfemoral TAVR. Using propensity score matching, we compared the trends and outcomes …


Combined Oral Contraceptives Bringing To Light May-Thurner Syndrome, Dina Alnabwani, Nagapratap Ganta, Smriti Kochhar, Veera Jayasree Latha Bommu, Reham Majzoub, Sharon Hechter, Priya Patel, Pramil Cheriyath Mar 2022

Combined Oral Contraceptives Bringing To Light May-Thurner Syndrome, Dina Alnabwani, Nagapratap Ganta, Smriti Kochhar, Veera Jayasree Latha Bommu, Reham Majzoub, Sharon Hechter, Priya Patel, Pramil Cheriyath

School of Medicine Publications

May-Thurner syndrome (MTS) is a relatively uncommon clinical condition characterized by venous blockage in the left lower leg. Compression of the left common iliac vein by the right common iliac artery and the underlying vertebral body causes obstruction. We report a case of MTS with extensive venous thrombosis in a 44-year-old female who remained clinically silent until she used combined oral contraceptive pills (OCPs) for more than three years.


Epidemiological Algorithm For Early Detection Of Covid-19 Cases In A Mexican Oncologic Center, Moisés González-Escamilla, Diana Cristina Pérez-Ibave, Carlos Horacio Burciaga-Flores, Vanessa Natali Ortiz-Murillo, Genaro A. Ramírez-Correa, Patricia Rodríguez-Niño, Rafael Piñeiro-Retif, Hazyadee Frecia Rodríguez-Gutiérrez, Fernando Alcorta-Nuñez Mar 2022

Epidemiological Algorithm For Early Detection Of Covid-19 Cases In A Mexican Oncologic Center, Moisés González-Escamilla, Diana Cristina Pérez-Ibave, Carlos Horacio Burciaga-Flores, Vanessa Natali Ortiz-Murillo, Genaro A. Ramírez-Correa, Patricia Rodríguez-Niño, Rafael Piñeiro-Retif, Hazyadee Frecia Rodríguez-Gutiérrez, Fernando Alcorta-Nuñez

School of Medicine Publications

An early detection tool for latent COVID-19 infections in oncology staff and patients is essential to prevent outbreaks in a cancer center. (1) Background: In this study, we developed and implemented two early detection tools for the radiotherapy area to identify COVID-19 cases opportunely. (2) Methods: Staff and patients answered a questionnaire (electronic and paper surveys, respectively) with clinical and epidemiological information. The data were collected through two online survey tools: Real-Time Tracking (R-Track) and Summary of Factors (S-Facts). Cut-off values were established according to the algorithm models. SARS-CoV-2 qRT-PCR tests confirmed the positive algorithms individuals. (3) Results: Oncology staff …


Assessing The Contribution Of Rare Variants To Complex Trait Heritability From Whole-Genome Sequence Data, Pierrick Wainschtein, Deepti Jain, Zhili Zheng, Stella Aslibekyan, Diane Becker, Wenjian Bi, Jennifer Brody, Jenna C. Carlson, Adolfo Correa, John Blangero Mar 2022

Assessing The Contribution Of Rare Variants To Complex Trait Heritability From Whole-Genome Sequence Data, Pierrick Wainschtein, Deepti Jain, Zhili Zheng, Stella Aslibekyan, Diane Becker, Wenjian Bi, Jennifer Brody, Jenna C. Carlson, Adolfo Correa, John Blangero

School of Medicine Publications

Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. However, it is not known whether the remaining heritability is due to the imperfect tagging of causal variants by common SNPs, in particular whether the causal variants are rare, or whether it is overestimated due to bias in inference from pedigree data. Here we estimated heritability for height and body mass index (BMI) from whole-genome sequence data on 25,465 unrelated individuals of European ancestry. The estimated heritability was 0.68 (standard error …


Endovascular Treatment Of Acute Ischemic Stroke With The Penumbra System In Routine Practice: Complete Registry Results, Osama O. Zaidat, Johanna T. Fifi, Ashish Nanda, Benjamin Atchie, Keith Woodward, Arnd Doerfler, Alejandro Tomasello, Inder Paul Singh, Wondwossen G. Tekle, Ameer E. Hassan Mar 2022

Endovascular Treatment Of Acute Ischemic Stroke With The Penumbra System In Routine Practice: Complete Registry Results, Osama O. Zaidat, Johanna T. Fifi, Ashish Nanda, Benjamin Atchie, Keith Woodward, Arnd Doerfler, Alejandro Tomasello, Inder Paul Singh, Wondwossen G. Tekle, Ameer E. Hassan

School of Medicine Publications

Background and purpose: The purpose of the COMPLETE (International Acute Ischemic Stroke Registry With the Penumbra System Aspiration Including the 3D Revascularization Device) registry was to evaluate the generalizability of the safety and efficacy of the Penumbra System (Penumbra, Inc, Alameda) in a real-world setting.

Methods: COMPLETE was a global, prospective, postmarket, multicenter registry. Patients with large vessel occlusion-acute ischemic stroke who underwent mechanical thrombectomy using the Penumbra System with or without the 3D Revascularization Device as frontline approach were enrolled at 42 centers (29 United States, 13 Europe) from July 2018 to October 2019. Primary efficacy end points were …


Schizophrenia Risk Loci From Xmhc Region Were Associated With Antipsychotic Response In Chronic Schizophrenic Patients With Persistent Positive Symptom, Jiang Li, Akane Yoshikawa, Ney Alliey-Rodriguez, Herbert Y. Meltzer Mar 2022

Schizophrenia Risk Loci From Xmhc Region Were Associated With Antipsychotic Response In Chronic Schizophrenic Patients With Persistent Positive Symptom, Jiang Li, Akane Yoshikawa, Ney Alliey-Rodriguez, Herbert Y. Meltzer

School of Medicine Publications

We examined whether common variants from the extended major histocompatibility complex (xMHC) region contribute to the response to antipsychotic drugs (APDs) in patients with schizophrenia with persistent psychosis. Subjects participated in a prospective longitudinal study of the effect of APDs on psychopathology were temporally split into discovery (n = 88) and replication (n = 42) cohorts. The primary endpoint was a change in Brief Psychiatric Rating Scale at 6-week or 6-month after treatment. rs204991 (β = 3.917, p = 3.72 × 10−6), the strongest signal associated with response at 6-week was located near C4A/C4B after a linear …


Blood Biomarkers For Cognitive Decline And Clinical Progression In A Mexican American Cohort, Mitzi M. Gonzales, Chen-Pin Wang, Meghan I. Short, Danielle M. Parent, Tiffany Kautz, Daniel Maccarthy, Claudia L. Satizabal, David Andrés González, Donald R. Royal, Gladys E. Maestre Feb 2022

Blood Biomarkers For Cognitive Decline And Clinical Progression In A Mexican American Cohort, Mitzi M. Gonzales, Chen-Pin Wang, Meghan I. Short, Danielle M. Parent, Tiffany Kautz, Daniel Maccarthy, Claudia L. Satizabal, David Andrés González, Donald R. Royal, Gladys E. Maestre

School of Medicine Publications

Introduction: The clinical translation of biofluid markers for dementia requires validation in diverse cohorts. The study goal was to evaluate if blood biomarkers reflecting diverse pathophysiological processes predict disease progression in Mexican American adults.

Methods: Mexican American adults (n = 745), 50 years of age and older, completed annual assessments over a mean of 4 years. Serum collected at baseline was assayed for total tau, neurofilament light (NFL), ubiquitin carboxyl‐terminal hydrolase LI, glial fibrillary acidic protein (GFAP), soluble cluster of differentiation 14 (sCD14), and chitinase‐3‐like protein 1 (YKL‐40).

Results: Higher GFAP and NFL were associated with global …


Open-Angle Glaucomatous Optic Neuropathy Is Related To Dips Rather Than Increases In The Mean Arterial Pressure Over 24-H, Jesus D. Melgarejo, Jan V. Eijgen, Gladys E. Maestre, Lama A. Al-Aswad, Lutgarde Thijs, Luis J. Mena, Joseph D. Terwilliger, Michele Petitto, Carlos A. Chavez, Miguel Brito Feb 2022

Open-Angle Glaucomatous Optic Neuropathy Is Related To Dips Rather Than Increases In The Mean Arterial Pressure Over 24-H, Jesus D. Melgarejo, Jan V. Eijgen, Gladys E. Maestre, Lama A. Al-Aswad, Lutgarde Thijs, Luis J. Mena, Joseph D. Terwilliger, Michele Petitto, Carlos A. Chavez, Miguel Brito

School of Medicine Publications

Background

Mean arterial pressure (MAP) drives ocular perfusion. Excessive 24-h MAP variability relates to glaucoma, however, whether this is due to dips or increases in the blood pressure (BP) is undocumented. We investigated the association of open-angle glaucoma (OAG) in relation to the five largest MAP dips/increases over 24-h, henceforth called dips/blips.

Methods

In the Maracaibo Aging Study (MAS), 93 participants aged ≥40y (women, 87.1%; mean age, 61.9y) underwent baseline ophthalmological and 24-h ambulatory BP monitoring assessments. OAG was the presence of optic nerve damage and visual field defects. Statistical methods included logistic regression and the generalized R2 statistic. …


Addressing The Disparities In Dementia Risk, Early Detection And Care In Latino Populations: Highlights From The Second Latinos & Alzheimer's Symposium, Yakeel T. Quiroz, Michele Solis, María P. Aranda, Alicia I. Arbaje, Mirna Arroyo-Miranda, Laura Y. Cabrera, Minerva Maria Carrasquillo, Maria M. Corrada, Gladys E. Maestre, Rosa V. Pirela Feb 2022

Addressing The Disparities In Dementia Risk, Early Detection And Care In Latino Populations: Highlights From The Second Latinos & Alzheimer's Symposium, Yakeel T. Quiroz, Michele Solis, María P. Aranda, Alicia I. Arbaje, Mirna Arroyo-Miranda, Laura Y. Cabrera, Minerva Maria Carrasquillo, Maria M. Corrada, Gladys E. Maestre, Rosa V. Pirela

School of Medicine Publications

The Alzheimer's Association hosted the second Latinos & Alzheimer's Symposium in May 2021. Due to the COVID-19 pandemic, the meeting was held online over 2 days, with virtual presentations, discussions, mentoring sessions, and posters. The Latino population in the United States is projected to have the steepest increase in Alzheimer's disease (AD) in the next 40 years, compared to other ethnic groups. Latinos have increased risk for AD and other dementias, limited access to quality care, and are severely underrepresented in AD and dementia research and clinical trials. The symposium highlighted developments in AD research with Latino populations, including advances …


Surgical Stabilization Versus Nonoperative Treatment For Flail And Non-Flail Rib Fracture Patterns In Patients With Traumatic Brain Injury, Jonne T. H. Prins, Esther M. M. Van Lieshout, Francis Ali-Osman, Zachary M. Bauman, Eva-Corina Caragounis, Jeff Choi, D. Benjamin Christie Iii, Peter A. Cole, William B. Devoe, Julie Whitis Feb 2022

Surgical Stabilization Versus Nonoperative Treatment For Flail And Non-Flail Rib Fracture Patterns In Patients With Traumatic Brain Injury, Jonne T. H. Prins, Esther M. M. Van Lieshout, Francis Ali-Osman, Zachary M. Bauman, Eva-Corina Caragounis, Jeff Choi, D. Benjamin Christie Iii, Peter A. Cole, William B. Devoe, Julie Whitis

School of Medicine Publications

Purpose

Literature on outcomes after SSRF, stratified for rib fracture pattern is scarce in patients with moderate to severe traumatic brain injury (TBI; Glasgow Coma Scale ≤ 12). We hypothesized that SSRF is associated with improved outcomes as compared to nonoperative management without hampering neurological recovery in these patients.

Methods

A post hoc subgroup analysis of the multicenter, retrospective CWIS-TBI study was performed in patients with TBI and stratified by having sustained a non-flail fracture pattern or flail chest between January 1, 2012 and July 31, 2019. The primary outcome was mechanical ventilation-free days and secondary outcomes were in-hospital outcomes. …


Dose-Intensified Stereotactic Ablative Radiation For Localized Prostate Cancer, Lily Chen, Bhavani S. Gannavarapu, University Of Texas Southwestern Medical Center At Dallas, Michael R. Folkert, Michael Dohopolski, Ang Gao, Chul Ahn, Jeffrey Cadeddu, Aditya Bagrodia Feb 2022

Dose-Intensified Stereotactic Ablative Radiation For Localized Prostate Cancer, Lily Chen, Bhavani S. Gannavarapu, University Of Texas Southwestern Medical Center At Dallas, Michael R. Folkert, Michael Dohopolski, Ang Gao, Chul Ahn, Jeffrey Cadeddu, Aditya Bagrodia

School of Medicine Publications

Purpose: Stereotactic ablative radiation (SAbR) has been increasingly used in prostate cancer (PCa) given its convenience and cost efficacy. Optimal doses remain poorly defined with limited prospective comparative trials and long-term safety/efficacy data at higher dose levels. We analyzed toxicity and outcomes for SAbR in men with localized PCa at escalated 45 Gy in 5 fractions.

Methods and Materials: This study retrospectively analyzed men from 2015 to 2019 with PCa who received linear-accelerator-based SAbR to 45 Gy in 5 fractions, along with perirectal hydrogel spacer, fiducial placement, and MRI-based planning. Disease control outcomes were calculated from end of treatment. Minimally …


Endovascular Thrombectomy Versus Medical Management In Isolated M2 Occlusions: Pooled Patient-Level Analysis From The Extend-Ia Trials, Inspire And Select Studies, Amrou Sarraj, Mark Parsons, Andrew Bivard, Ameer E. Hassan, Michael G. Abraham, Teddy Wu, Timothy Kleinig, Longting Lin, Chushuang (Amy) Chen, Christopher Levi Feb 2022

Endovascular Thrombectomy Versus Medical Management In Isolated M2 Occlusions: Pooled Patient-Level Analysis From The Extend-Ia Trials, Inspire And Select Studies, Amrou Sarraj, Mark Parsons, Andrew Bivard, Ameer E. Hassan, Michael G. Abraham, Teddy Wu, Timothy Kleinig, Longting Lin, Chushuang (Amy) Chen, Christopher Levi

School of Medicine Publications

Objective: To evaluate functional and safety outcomes of Endovascular thrombectomy(EVT) vs Medical Management(MM) in patients with M2 occlusion and examine their association with perfusion imaging mismatch and stroke severity.

Methods: In a pooled, patient-level analysis of 3 randomized controlled trials(EXTEND-IA, EXTEND-IA-TNK part 1&2) and 2 prospective non-randomized studies(INSPIRE&SELECT), we evaluated EVT association with 90-day functional independence(mRS 0-2) in isolated M2 occlusions as compared to medical management overall and in subgroups by mismatch profile status and stroke severity.

Results: We included 517 patients(EVT=195, MM=322), baseline median(IQR) NIHSS was 13(8-19) in EVT vs 10(6-15) in MM, p

Interpretation: In patients with M2 …


Clinical Symptoms Contributing To Zenker's Diverticulum Repair: A Retrospective Review, Jhon F. Martinez Paredes, Razan Al Fakir, Amy L. Rutt Feb 2022

Clinical Symptoms Contributing To Zenker's Diverticulum Repair: A Retrospective Review, Jhon F. Martinez Paredes, Razan Al Fakir, Amy L. Rutt

School of Medicine Publications

Objective: Zenker's diverticulum (ZD) is usually associated with dysphagia and other symptoms due to the interrelated functions of several systems. Surgical management of ZD is effective for all sizes of diverticula, but not all patients decide to undergo surgery. The purpose of this study was to determine the relationship between clinical presentation and patients' decision to undergo surgical repair.

Subjects and methods: This is a retrospective study including 165 patients with ZD treated over the last 11 years. Data collection includes patients' chief complaints and symptoms, medical history, findings on radiologic swallow evaluations, and patients' decision to undergo surgery. Pearson …