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Articles 1 - 8 of 8
Full-Text Articles in Medicine and Health Sciences
The Diagnosis Of Severe Combined Immunodeficiency: Implementation Of The Pidtc 2022 Definitions, Christopher C. Dvorak, Elie Haddad, Jennifer Heimall, Elizabeth Dunn, Morton J. Cowan, Sung-Yun Pai, Neena Kapoor, Lisa Forbes Satter, Rebecca H. Buckley, Richard J. O'Reilly, Sharat Chandra, Jeffrey J. Bednarski, Olatundun Williams, Ahmad Rayes, Theodore B. Moore, Christen L. Ebens, Blachy J. Davila Saldana, Aleksandra Petrovic, Deepak Chellapandian, Geoffrey D. E. Cuvelier, Mark T. Vander Lugt, Emi H. Caywood, Shanmuganathan Chandrakasan, Hesham Eissa, Frederick D. Goldman, Evan Shereck, Victor M. Aquino, Kenneth B. Desantes, Lolie Yu, Et Al
The Diagnosis Of Severe Combined Immunodeficiency: Implementation Of The Pidtc 2022 Definitions, Christopher C. Dvorak, Elie Haddad, Jennifer Heimall, Elizabeth Dunn, Morton J. Cowan, Sung-Yun Pai, Neena Kapoor, Lisa Forbes Satter, Rebecca H. Buckley, Richard J. O'Reilly, Sharat Chandra, Jeffrey J. Bednarski, Olatundun Williams, Ahmad Rayes, Theodore B. Moore, Christen L. Ebens, Blachy J. Davila Saldana, Aleksandra Petrovic, Deepak Chellapandian, Geoffrey D. E. Cuvelier, Mark T. Vander Lugt, Emi H. Caywood, Shanmuganathan Chandrakasan, Hesham Eissa, Frederick D. Goldman, Evan Shereck, Victor M. Aquino, Kenneth B. Desantes, Lolie Yu, Et Al
School of Medicine Faculty Publications
Background: Shearer et al in 2014 articulated well-defined criteria for the diagnosis and classification of severe combined immunodeficiency (SCID) as part of the Primary Immune Deficiency Treatment Consortium's (PIDTC's) prospective and retrospective studies of SCID. Objective: Because of the advent of newborn screening for SCID and expanded availability of genetic sequencing, revision of the PIDTC 2014 Criteria was needed. Methods: We developed and tested updated PIDTC 2022 SCID Definitions by analyzing 379 patients proposed for prospective enrollment into Protocol 6901, focusing on the ability to distinguish patients with various SCID subtypes. Results: According to PIDTC 2022 Definitions, 18 of 353 …
Mechanisms Of Recovery: Community Perceptions Of Change And Growth Following Multiple Disasters, Howard Osofsky, Joy Osofsky, Leia Y. Saltzman, Estilla Lightfoot, Jule De King, Tonya C. Hansel
Mechanisms Of Recovery: Community Perceptions Of Change And Growth Following Multiple Disasters, Howard Osofsky, Joy Osofsky, Leia Y. Saltzman, Estilla Lightfoot, Jule De King, Tonya C. Hansel
School of Medicine Faculty Publications
Introduction and purpose: The geographic location of the Gulf South leaves communities in continuous threat, response, and recovery disaster cycles. Hurricane Katrina in 2005 provided an opportunity to study disaster mental health. Less than 5 years after the storm, many Hurricane Katrina survivors were impacted again by the Deepwater Horizon Gulf oil spill. Despite adversities impacting Gulf communities, over 90% of participants reported they were resilient. The purpose of this study was to improve the understanding of the mechanisms that contribute to strengths following adversity in communities affected by repeated disasters. Specifically, we focused on survivor perceptions of personal, spiritual, …
The Gain Of Function Scn1a Disorder Spectrum: Novel Epilepsy Phenotypes And Therapeutic Implications, Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart Macleod, Dragan Marjanovic, Amy Mctague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M. Scott Perry, Karen Pysden, Sophie J. Russ-Hall, Ingrid E. Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham
The Gain Of Function Scn1a Disorder Spectrum: Novel Epilepsy Phenotypes And Therapeutic Implications, Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart Macleod, Dragan Marjanovic, Amy Mctague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M. Scott Perry, Karen Pysden, Sophie J. Russ-Hall, Ingrid E. Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham
School of Medicine Faculty Publications
Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are associated with familial hemiplegic migraine type 3. Novel SCN1A-related phenotypes have been described including early infantile developmental and epileptic encephalopathy with movement disorder, and more recently neonatal presentations with arthrogryposis. Here we describe the clinical, genetic and functional evaluation of affected individuals. Thirty-five patients were ascertained via an international collaborative network using a structured clinical questionnaire and from the literature. We performed whole-cell voltage-clamp electrophysiological recordings comparing …
Metabolic Pathways Enriched According To Erg Status Are Associated With Biochemical Recurrence In Hispanic/Latino Patients With Prostate Cancer, Natalia L. Acosta-Vega, Rodolfo Varela, Jorge Andrés Mesa, Jone Garai, Melody C. Baddoo, Alberto Gómez-Gutiérrez, Silvia J. Serrano-Gómez, Marcela Nuñez Lemus, Martha Lucía Serrano, Jovanny Zabaleta, Alba L. Combita, María Carolina Sanabria-Salas
Metabolic Pathways Enriched According To Erg Status Are Associated With Biochemical Recurrence In Hispanic/Latino Patients With Prostate Cancer, Natalia L. Acosta-Vega, Rodolfo Varela, Jorge Andrés Mesa, Jone Garai, Melody C. Baddoo, Alberto Gómez-Gutiérrez, Silvia J. Serrano-Gómez, Marcela Nuñez Lemus, Martha Lucía Serrano, Jovanny Zabaleta, Alba L. Combita, María Carolina Sanabria-Salas
School of Medicine Faculty Publications
Background: The role of ERG-status molecular subtyping in prognosis of prostate cancer (PCa) is still under debate. In this study, we identified differentially expressed genes (DEGs) according to ERG-status to explore their enriched pathways and implications in prognosis in Hispanic/Latino PCa patients. Methods: RNA from 78 Hispanic PCa tissues from radical prostatectomies (RP) were used for RNA-sequencing. ERGhigh/ERGlow tumor groups were determined based on the 1.5-fold change median expression in non-tumor samples. DEGs with a False Discovery Rate (FDR) < 0.01 and a fold change >2 were identified between ERGhigh and ERGlow tumors and submitted to enrichment analysis in MetaCore. Survival and association analyses were performed …
Tachyarrhythmias During Hospitalization For Covid-19 Or Multisystem Inflammatory Syndrome In Children And Adolescents, Audrey Dionne, Kevin G. Friedman, Cameron C. Young, Margaret M. Newhams, Suden Kucukak, Ashley M. Jackson, Julie C. Fitzgerald, Laura S. Smallcomb, Sabrina Heidemann, Gwenn E. Mclaughlin, Katherine Irby, Tamara T. Bradford, Steven M. Horwitz, Laura L. Loftis, Vijaya L. Soma, Courtney M. Rowan, Michele Kong, Natasha B. Halasa, Keiko M. Tarquinio, Adam J. Schwarz, Janet R. Hume, Shira J. Gertz, Katharine N. Clouser, Christopher L. Carroll, Kari Wellnitz, Melissa L. Cullimore, Sule Doymaz, Emily R. Levy
Tachyarrhythmias During Hospitalization For Covid-19 Or Multisystem Inflammatory Syndrome In Children And Adolescents, Audrey Dionne, Kevin G. Friedman, Cameron C. Young, Margaret M. Newhams, Suden Kucukak, Ashley M. Jackson, Julie C. Fitzgerald, Laura S. Smallcomb, Sabrina Heidemann, Gwenn E. Mclaughlin, Katherine Irby, Tamara T. Bradford, Steven M. Horwitz, Laura L. Loftis, Vijaya L. Soma, Courtney M. Rowan, Michele Kong, Natasha B. Halasa, Keiko M. Tarquinio, Adam J. Schwarz, Janet R. Hume, Shira J. Gertz, Katharine N. Clouser, Christopher L. Carroll, Kari Wellnitz, Melissa L. Cullimore, Sule Doymaz, Emily R. Levy
School of Medicine Faculty Publications
BACKGROUND: Cardiac complications related to COVID-19 in children and adolescents include ventricular dysfunction, myocarditis, coronary artery aneurysm, and bradyarrhythmias, but tachyarrhythmias are less understood. The goal of this study was to evaluate the frequency, characteristics, and outcomes of children and adolescents experiencing tachyarrhythmias while hospitalized for acute severe COVID-19 or multisystem inflammatory syndrome in children. METHODS AND RESULTS: This study involved a case series of 63 patients with tachyarrhythmias reported in a public health surveillance registry of patients aged 15, 2020, to December 31, 2021, at 63 US hospitals. Patients with tachyarrhythmias were compared with patients with severe COVID-19–related complications …
Cryptococcal Hsf3 Controls Intramitochondrial Ros Homeostasis By Regulating The Respiratory Process, Xindi Gao, Yi Fu, Shengyi Sun, Tingyi Gu, Yanjian Li, Tianshu Sun, Hailong Li, Wei Du, Chenhao Suo, Chao Li, Yiru Gao, Yang Meng, Yue Ni, Sheng Yang, Tian Lan, Sixiang Sai, Jiayi Li, Kun Yu, Ping Wang, Chen Ding
Cryptococcal Hsf3 Controls Intramitochondrial Ros Homeostasis By Regulating The Respiratory Process, Xindi Gao, Yi Fu, Shengyi Sun, Tingyi Gu, Yanjian Li, Tianshu Sun, Hailong Li, Wei Du, Chenhao Suo, Chao Li, Yiru Gao, Yang Meng, Yue Ni, Sheng Yang, Tian Lan, Sixiang Sai, Jiayi Li, Kun Yu, Ping Wang, Chen Ding
School of Medicine Faculty Publications
Mitochondrial quality control prevents accumulation of intramitochondrial-derived reactive oxygen species (mtROS), thereby protecting cells against DNA damage, genome instability, and programmed cell death. However, underlying mechanisms are incompletely understood, particularly in fungal species. Here, we show that Cryptococcus neoformans heat shock factor 3 (CnHsf3) exhibits an atypical function in regulating mtROS independent of the unfolded protein response. CnHsf3 acts in nuclei and mitochondria, and nuclear- and mitochondrial-targeting signals are required for its organelle-specific functions. It represses the expression of genes involved in the tricarboxylic acid cycle while promoting expression of genes involved in electron transfer chain. In addition, CnHsf3 responds …
Extracorporeal Membrane Oxygenation In The Care Of A Preterm Infant With Covid-19 Infection: Case Report, Jessica Patrick-Esteve, Christy Mumphrey, David Yu, Emily Masoumy, Jeremy Lawson, David Hebert, Brian Barkemeyer
Extracorporeal Membrane Oxygenation In The Care Of A Preterm Infant With Covid-19 Infection: Case Report, Jessica Patrick-Esteve, Christy Mumphrey, David Yu, Emily Masoumy, Jeremy Lawson, David Hebert, Brian Barkemeyer
School of Medicine Faculty Publications
Coronavirus disease 2019 (COVID-19) was first reported to the World Health Organization (WHO) in December 2019 and has since unleashed a global pandemic, with over 518 million cases as of May 10, 2022. Neonates represent a very small proportion of those patients. Among reported cases of neonates with symptomatic COVID-19 infection, the rates of hospitalization remain low. Most reported cases in infants and neonates are community acquired with mild symptoms, most commonly fever, rhinorrhea and cough. Very few require intensive care or invasive support for acute infection. We present a case of a 2-month-old former 26-week gestation infant with a …
Variation In The Hemoglobin Glycation Index, James M. Hempe, Daniel S. Hsia
Variation In The Hemoglobin Glycation Index, James M. Hempe, Daniel S. Hsia
School of Medicine Faculty Publications
A high hemoglobin glycation index (HGI) has been repeatedly associated with greater risk for hypoglycemia in people with diabetes and greater risk for chronic vascular disease in people with or without diabetes. This review explores how different sources of analytical and biological variation in HbA1c and blood glucose individually and collectively affect the clinical information value of HGI. We conclude that HGI is a complex quantitative trait that is a clinically practical biomarker of risk for both hypoglycemia and chronic vascular disease.