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Articles 14131 - 14160 of 18688

Full-Text Articles in Medical Specialties

Editorial: Identifying Genetics-Based Mechanisms And Treatments For Neurodevelopmental And Psychiatric Disorders Through Data Integration, Kaifang Pang, Li Wang, Suhua Chang Jan 2023

Editorial: Identifying Genetics-Based Mechanisms And Treatments For Neurodevelopmental And Psychiatric Disorders Through Data Integration, Kaifang Pang, Li Wang, Suhua Chang

Faculty, Staff and Students Publications

No abstract provided.


The Current Burden And Future Solutions For Preoperative Cataract-Refractive Evaluation Diagnostic Devices: A Modified Delphi Study, Bonnie An Henderson, Jaime Aramberri, Robin Vann, Adi Abulafia, Margaret Ainslie-Garcia, John Berdahl, Nicole Ferko, Kjell Gunnar Gundersen, So Goto, Preeya Gupta, Samuel Multack, Elizabeth Persaud, Duna Raoof, Giacomo Savini, H John Shammas, Li Wang, Wendy Zhi Wang Jan 2023

The Current Burden And Future Solutions For Preoperative Cataract-Refractive Evaluation Diagnostic Devices: A Modified Delphi Study, Bonnie An Henderson, Jaime Aramberri, Robin Vann, Adi Abulafia, Margaret Ainslie-Garcia, John Berdahl, Nicole Ferko, Kjell Gunnar Gundersen, So Goto, Preeya Gupta, Samuel Multack, Elizabeth Persaud, Duna Raoof, Giacomo Savini, H John Shammas, Li Wang, Wendy Zhi Wang

Faculty, Staff and Students Publications

Purpose: To obtain consensus on the key areas of burden associated with existing devices and to understand the requirements for a comprehensive next-generation diagnostic device to be able to solve current challenges and provide more accurate prediction of intraocular lens (IOL) power and presbyopia correction IOL success.

Patients and methods: Thirteen expert refractive cataract surgeons including three steering committee (SC) members constituted the voting panel. Three rounds of voting included a Round 1 structured electronic questionnaire, Round 2 virtual face-to-face meeting, and Round 3 electronic questionnaire to obtain consensus on topics related to current limitations and future solutions for preoperative …


Healthcare Workers' Well-Being: A Systematic Review Of Positive Psychology Interventions, Alexandra P Townsley, Jenny Li-Wang, Rajani Katta Jan 2023

Healthcare Workers' Well-Being: A Systematic Review Of Positive Psychology Interventions, Alexandra P Townsley, Jenny Li-Wang, Rajani Katta

Faculty, Staff and Students Publications

Given persistent occupational stressors and multiple challenges in the delivery of healthcare, there is an increased focus on the well-being of healthcare workers. Responding to these challenges will require a multipronged approach, focusing on system level, organization, and individual actions. Positive psychology interventions (PPIs) represent a promising area for individual action. This systematic review indicates that PPI, delivered via many methods, holds promise for improving the well-being of healthcare workers, although there is a clear need for additional randomized controlled trials utilizing defined and standardized outcome measures. In this review, the most commonly evaluated PPIs were mindfulness-based or gratitude-based interventions. …


A Guide To Naming Eukaryotic Circular Rnas, Ling-Ling Chen, Albrecht Bindereif, Irene Bozzoni, Howard Y Chang, A Gregory Matera, Myriam Gorospe, Thomas B Hansen, Jørgen Kjems, Xu-Kai Ma, Jun Wei Pek, Nikolaus Rajewsky, Julia Salzman, Jeremy E Wilusz, Li Yang, Fangqing Zhao Jan 2023

A Guide To Naming Eukaryotic Circular Rnas, Ling-Ling Chen, Albrecht Bindereif, Irene Bozzoni, Howard Y Chang, A Gregory Matera, Myriam Gorospe, Thomas B Hansen, Jørgen Kjems, Xu-Kai Ma, Jun Wei Pek, Nikolaus Rajewsky, Julia Salzman, Jeremy E Wilusz, Li Yang, Fangqing Zhao

Faculty, Staff and Students Publications

Alternative splicing of eukaryotic transcripts often leads to production of multiple mature RNAs from a single gene locus. In addition to encoding linear RNAs, genes can produce stable circular RNAs (circRNAs) that are often co-expressed with their cognate linear RNAs. Multiple distinct circRNAs are frequently generated from a gene locus via back-splicing, with each mature transcript having a potentially unique function due to its distinct combination of exons and sometimes retained introns. However, names currently given to circRNAs are often ambiguous and lack consistency across studies. Here, we call on the community to embrace standards for naming circRNAs so that …


Atrial Standstill In The Pediatric Population: A Multi-Institution Collaboration, Taylor S Howard, David Y Chiang, Scott R Ceresnak, Virginie Beausejour Ladouceur, Robert D Whitehill, Richard J Czosek, Timothy K Knilans, Agnethe M Ahnfeldt, Malene Lando Borresen, Edgar Jaeggi, Sharmila Udupa, Robert Gow, Jeremy P Moore, Roberto G Galloti, Doug Y Mah, Jeffrey J Kim, Santiago O Valdes, Dianna M Milewicz, Christina Y Miyake Jan 2023

Atrial Standstill In The Pediatric Population: A Multi-Institution Collaboration, Taylor S Howard, David Y Chiang, Scott R Ceresnak, Virginie Beausejour Ladouceur, Robert D Whitehill, Richard J Czosek, Timothy K Knilans, Agnethe M Ahnfeldt, Malene Lando Borresen, Edgar Jaeggi, Sharmila Udupa, Robert Gow, Jeremy P Moore, Roberto G Galloti, Doug Y Mah, Jeffrey J Kim, Santiago O Valdes, Dianna M Milewicz, Christina Y Miyake

Faculty, Staff and Students Publications

Background: Atrial standstill (AS) is a rare condition characterized by absence of electrical activity within the atria. Studies to date have been limited.

Objectives: The authors sought to describe the clinical characteristics, genetics, and outcomes of patients with AS.

Methods: This was a retrospective multicenter study of patients < 18 years at AS diagnosis, defined as absence of atrial activity documented during an electrophysiology study, device placement, or noninvasive rhythm tracings and confirmed by echocardiogram. Patients with acquired disorders were excluded. Clinical details and genetic variants were recorded and analyzed.

Results: Twenty patients were diagnosed at a median age of 6.6 years (IQR: 2.9-10.8 years). Arrhythmias included 16 (80%) with atrial/supraventricular arrhythmias and 8 (40%) with ventricular tachycardia, including 4 with cardiac arrests. A type 1 Brugada pattern was documented in 4. Pacemakers were implanted in 18 (90%). Although atrial leads were …


Cerebral Microdialysis And Glucopenia In Traumatic Brain Injury: A Review, Himanshu Sharma, John P Mcginnis, Katherine E Kabotyanski, Shankar P Gopinath, Jerry C Goodman, Claudia Robertson, Jovany Cruz Navarro Jan 2023

Cerebral Microdialysis And Glucopenia In Traumatic Brain Injury: A Review, Himanshu Sharma, John P Mcginnis, Katherine E Kabotyanski, Shankar P Gopinath, Jerry C Goodman, Claudia Robertson, Jovany Cruz Navarro

Faculty, Staff and Students Publications

Traditionally, intracranial pressure (ICP) and partial brain tissue oxygenation (PbtO2) have been the primary invasive intracranial measurements used to guide management in patients with severe traumatic brain injury (TBI). After injury however, the brain develops an increased metabolic demand which may require an increment in the oxidative metabolism of glucose. Simultaneously, metabolic, and electrical dysfunction can lead to an inability to meet these demands, even in the absence of ischemia or increased intracranial pressure. Cerebral microdialysis provides the ability to accurately measure local concentrations of various solutes including lactate, pyruvate, glycerol and glucose. Experimental and clinical data demonstrate that such …


Postsurgical Morbidity And Mortality Favorably Informs Deep Brain Stimulation For New Indications Including Schizophrenia And Schizoaffective Disorder, Judith M Gault, Patrick Hosokawa, Daniel Kramer, Elyn R Saks, Paul S Appelbaum, John A Thompson, Ann Olincy, Nicola Cascella, Akira Sawa, Wayne Goodman, Nidal Moukaddam, Sameer A Sheth, William S Anderson, Rachel A Davis Jan 2023

Postsurgical Morbidity And Mortality Favorably Informs Deep Brain Stimulation For New Indications Including Schizophrenia And Schizoaffective Disorder, Judith M Gault, Patrick Hosokawa, Daniel Kramer, Elyn R Saks, Paul S Appelbaum, John A Thompson, Ann Olincy, Nicola Cascella, Akira Sawa, Wayne Goodman, Nidal Moukaddam, Sameer A Sheth, William S Anderson, Rachel A Davis

Faculty, Staff and Students Publications

BACKGROUND: Deep brain stimulation (DBS) shows promise for new indications like treatment-refractory schizophrenia in early clinical trials. In the first DBS clinical trial for treatment refractory schizophrenia, despite promising results in treating psychosis, one of the eight subjects experienced both a symptomatic hemorrhage and an infection requiring device removal. Now, ethical concerns about higher surgical risk in schizophrenia/schizoaffective disorder (SZ/SAD) are impacting clinical trial progress. However, insufficient cases preclude conclusions regarding DBS risk in SZ/SAD. Therefore, we directly compare adverse surgical outcomes for all surgical procedures between SZ/SAD and Parkinson's disease (PD) cases to infer relative surgical risk relevant to …


Engineered Cd4 T Cells Expressing A Membrane Anchored Viral Inhibitor Restrict Hiv-1 Through Cis And Trans Mechanisms, Weiming Wang, Khanghy Truong, Chaobaihui Ye, Suman Sharma, Huan He, Lihong Liu, Michael Wen, Anisha Misra, Paul Zhou, Jason T Kimata Jan 2023

Engineered Cd4 T Cells Expressing A Membrane Anchored Viral Inhibitor Restrict Hiv-1 Through Cis And Trans Mechanisms, Weiming Wang, Khanghy Truong, Chaobaihui Ye, Suman Sharma, Huan He, Lihong Liu, Michael Wen, Anisha Misra, Paul Zhou, Jason T Kimata

Faculty, Staff and Students Publications

HIV-1 infection of target cells can occur through either cell-free virions or cell-cell transmission in a virological synapse, with the latter mechanism of infection reported to be 100- to 1,000-fold more efficient. Neutralizing antibodies and entry inhibitors effectively block cell-free HIV-1, but with few exceptions, they display much less inhibitory activity against cell-mediated HIV-1 transmission. Previously, we showed that engineering HIV-1 target cells by genetically linking single-chain variable fragments (scFvs) of antibodies to glycosyl phosphatidylinositol (GPI) potently blocks infection by cell-free virions and cell-mediated infection by immature dendritic cell (iDC)-captured HIV-1. Expression of scFvs on CD4


Future Directions In Psychiatric Neurosurgery: Proceedings Of The 2022 American Society For Stereotactic And Functional Neurosurgery Meeting On Surgical Neuromodulation For Psychiatric Disorders, Frederick L Hitti, Alik S Widge, Patricio Riva-Posse, Donald A Malone, Michael S Okun, Maryam M Shanechi, Kelly D Foote, Sarah H Lisanby, Elizabeth Ankudowich, Srinivas Chivukula, Edward F Chang, Aysegul Gunduz, Clement Hamani, Ashley Feinsinger, Cynthia S Kubu, Winston Chiong, Jennifer A Chandler, Rafael Carbunaru, Binith Cheeran, Robert S Raike, Rachel A Davis, Casey H Halpern, Nora Vanegas-Arroyave, Dejan Markovic, Sarah K Bick, Cameron C Mcintyre, R Mark Richardson, Darin D Dougherty, Brian H Kopell, Jennifer A Sweet, Wayne K Goodman, Sameer A Sheth, Nader Pouratian Jan 2023

Future Directions In Psychiatric Neurosurgery: Proceedings Of The 2022 American Society For Stereotactic And Functional Neurosurgery Meeting On Surgical Neuromodulation For Psychiatric Disorders, Frederick L Hitti, Alik S Widge, Patricio Riva-Posse, Donald A Malone, Michael S Okun, Maryam M Shanechi, Kelly D Foote, Sarah H Lisanby, Elizabeth Ankudowich, Srinivas Chivukula, Edward F Chang, Aysegul Gunduz, Clement Hamani, Ashley Feinsinger, Cynthia S Kubu, Winston Chiong, Jennifer A Chandler, Rafael Carbunaru, Binith Cheeran, Robert S Raike, Rachel A Davis, Casey H Halpern, Nora Vanegas-Arroyave, Dejan Markovic, Sarah K Bick, Cameron C Mcintyre, R Mark Richardson, Darin D Dougherty, Brian H Kopell, Jennifer A Sweet, Wayne K Goodman, Sameer A Sheth, Nader Pouratian

Faculty, Staff and Students Publications

OBJECTIVE: Despite advances in the treatment of psychiatric diseases, currently available therapies do not provide sufficient and durable relief for as many as 30-40% of patients. Neuromodulation, including deep brain stimulation (DBS), has emerged as a potential therapy for persistent disabling disease, however it has not yet gained widespread adoption. In 2016, the American Society for Stereotactic and Functional Neurosurgery (ASSFN) convened a meeting with leaders in the field to discuss a roadmap for the path forward. A follow-up meeting in 2022 aimed to review the current state of the field and to identify critical barriers and milestones for progress. …


Crossing The Decarbonization Chasm: A Call To Action For Hospital And Health System Leaders To Reduce Their Greenhouse Gas Emissions, Hardeep Singh, Walt Vernon, Terri Scannell, Kathy Gerwig Jan 2023

Crossing The Decarbonization Chasm: A Call To Action For Hospital And Health System Leaders To Reduce Their Greenhouse Gas Emissions, Hardeep Singh, Walt Vernon, Terri Scannell, Kathy Gerwig

Faculty, Staff and Students Publications

No abstract provided.


Photoplethysmography-New Applications For An Old Technology: A Sleep Technology Review, Scott Ryals, Ambrose Chiang, Sharon Schutte-Rodin, Arvind Chandrakantan, Nitun Verma, Steven Holfinger, Fariha Abbasi-Feinberg, Anuja Bandyopadhyay, Kelly Baron, Sumit Bhargava, Ken He, Joseph Kern, Jennifer Miller, Ruchir Patel, Dulip Ratnasoma, Maryann C Deak Jan 2023

Photoplethysmography-New Applications For An Old Technology: A Sleep Technology Review, Scott Ryals, Ambrose Chiang, Sharon Schutte-Rodin, Arvind Chandrakantan, Nitun Verma, Steven Holfinger, Fariha Abbasi-Feinberg, Anuja Bandyopadhyay, Kelly Baron, Sumit Bhargava, Ken He, Joseph Kern, Jennifer Miller, Ruchir Patel, Dulip Ratnasoma, Maryann C Deak

Faculty, Staff and Students Publications

Education is integral to the American Academy of Sleep Medicine (AASM) mission. The AASM Emerging Technology Committee identified an important and evolving piece of technology that is present in many of the consumer and clinical technologies that we review on the AASM #SleepTechnology (https://aasm.org/consumer-clinical-sleep-technology/) resource—photoplethysmography. As more patients with sleep tracking devices ask clinicians to view their data, it is important for sleep providers to have a general understanding of the technology, its sensors, how it works, targeted users, evidence for the claimed uses, and its strengths and weaknesses. The focus in this review is photoplethysmography—a sensor type …


A Pregnant Patient Presents With Leakage Of Vaginal Fluid In The Second Trimester, Alison N Goulding, Jennifer R Mckinney, Diana Crabtree Sokol, Anitra D Beasley Jan 2023

A Pregnant Patient Presents With Leakage Of Vaginal Fluid In The Second Trimester, Alison N Goulding, Jennifer R Mckinney, Diana Crabtree Sokol, Anitra D Beasley

Faculty, Staff and Students Publications

Morning Report is a time-honored tradition where physicians-in-training present cases to their colleagues and clinical experts to collaboratively examine an interesting patient presentation. The Morning Report section seeks to carry on this tradition by presenting a patient’s chief concern and story, inviting the reader to develop a differential diagnosis and discover the diagnosis alongside the authors of the case.

This report examines the story of a 43-year-old (gravida 3, para 2) woman who sought evaluation for leakage of vaginal fluid at 15 weeks of gestation. Using questions, physical examination, and testing, an illness script for the presentation emerges. As her …


Effectiveness Of Elbasvir/Grazoprevir Plus Ribavirin For Hepatitis C Virus Genotype 1a Infection And Baseline Ns5a Resistance, Deanna D Hill, Jennifer R Kramer, Kassie R Chaffin, T Christopher Mast, Michael N Robertson, Fasiha Kanwal, Barbara A Haber Jan 2023

Effectiveness Of Elbasvir/Grazoprevir Plus Ribavirin For Hepatitis C Virus Genotype 1a Infection And Baseline Ns5a Resistance, Deanna D Hill, Jennifer R Kramer, Kassie R Chaffin, T Christopher Mast, Michael N Robertson, Fasiha Kanwal, Barbara A Haber

Faculty, Staff and Students Publications

Introduction and objectives: In clinical trials, patients with hepatitis C virus (HCV) genotype (GT)1a infection and baseline resistance-associated substitutions (RASs) at amino acid positions 28, 30, 31, or 93 receiving elbasvir/grazoprevir for 12 weeks achieved lower rates of sustained virologic response (SVR) than those without baseline RASs. SVR rates in patients with RASs were improved when elbasvir/grazoprevir treatment duration was extended from 12 to 16 weeks and administered concomitantly with ribavirin.

Materials and methods: This was a retrospective, observational analysis using electronic health record abstraction. Patients with HCV GT1a infection and RASs at positions 28, 30, 31, or 93 who …


The Effect Of A Plasma Next-Generation Sequencing Test On Antimicrobial Management In Immunocompetent And Immunocompromised Patients-A Single-Center Retrospective Study, Denise Marie A Francisco, Laila Woc-Colburn, Travis J Carlson, Todd Lasco, Miriam Barrett, Mayar Al Mohajer Jan 2023

The Effect Of A Plasma Next-Generation Sequencing Test On Antimicrobial Management In Immunocompetent And Immunocompromised Patients-A Single-Center Retrospective Study, Denise Marie A Francisco, Laila Woc-Colburn, Travis J Carlson, Todd Lasco, Miriam Barrett, Mayar Al Mohajer

Faculty, Staff and Students Publications

Objective: To describe the use of next-generation sequencing (NGS) and to determine whether NGS leads to changes in antimicrobial management.

Design and setting: This retrospective cohort study included patients aged ≥18 years admitted to a single tertiary-care center in Houston, Texas, with an NGS test performed between January 1, 2017, and December 31, 2018.

Patients: In total, 167 NGS tests were performed. Most patients were of non-Hispanic ethnicity (n = 129), white (n = 106), and male (n = 116), with a mean age of 52 years (SD, 16). Moreover, 61 patients were immunocompromised: solid-organ transplant (n = 30), patients …


Gene-Environment Interactions Underlying The Etiology Of Neural Tube Defects, Carlo Donato Caiaffa, Cristiane Sá Roriz Fonteles, Lei Yunping, Richard H Finnell Jan 2023

Gene-Environment Interactions Underlying The Etiology Of Neural Tube Defects, Carlo Donato Caiaffa, Cristiane Sá Roriz Fonteles, Lei Yunping, Richard H Finnell

Faculty, Staff and Students Publications

Neural tube defects (NTDs) consist of severe structural malformations of the brain and spinal cord and are the second most common structural birth defect in humans, accounting for approximately 2700 affected pregnancies every year in the United States. These numbers are highly significant, considering that birth defects remain a leading cause of infant mortality in the United States, affecting approximately 120,000 babies born annually. Survivors of these congenital malformations face long-term disability and lifelong challenges imposed by severe physical burdens compromising the afflicted individual's overall quality of life. Clearly, birth defects, and especially NTDs remain a global public health challenge, …


Toward More Rigorous And Informative Nutritional Epidemiology: The Rational Space Between Dismissal And Defense Of The Status Quo, Andrew W Brown, Stella Aslibekyan, Dennis Bier, Rafael Ferreira Da Silva, Adam Hoover, David M Klurfeld, Eric Loken, Evan Mayo-Wilson, Nir Menachemi, Greg Pavela, Patrick D Quinn, Dale Schoeller, Carmen Tekwe, Danny Valdez, Colby J Vorland, Leah D Whigham, David B Allison Jan 2023

Toward More Rigorous And Informative Nutritional Epidemiology: The Rational Space Between Dismissal And Defense Of The Status Quo, Andrew W Brown, Stella Aslibekyan, Dennis Bier, Rafael Ferreira Da Silva, Adam Hoover, David M Klurfeld, Eric Loken, Evan Mayo-Wilson, Nir Menachemi, Greg Pavela, Patrick D Quinn, Dale Schoeller, Carmen Tekwe, Danny Valdez, Colby J Vorland, Leah D Whigham, David B Allison

Faculty, Staff and Students Publications

To date, nutritional epidemiology has relied heavily on relatively weak methods including simple observational designs and substandard measurements. Despite low internal validity and other sources of bias, claims of causality are made commonly in this literature. Nutritional epidemiology investigations can be improved through greater scientific rigor and adherence to scientific reporting commensurate with research methods used. Some commentators advocate jettisoning nutritional epidemiology entirely, perhaps believing improvements are impossible. Still others support only normative refinements. But neither abolition nor minor tweaks are appropriate. Nutritional epidemiology, in its present state, offers utility, yet also needs marked, reformational renovation. Changing the status quo …


Editorial: Health Effects And Pathophysiological Mechanisms Of One-Carbon Metabolism Nutrients Intake Throughout The Life Cycle, Jufen Liu, Yunping Lei, Lei Wang, Chao Guo Jan 2023

Editorial: Health Effects And Pathophysiological Mechanisms Of One-Carbon Metabolism Nutrients Intake Throughout The Life Cycle, Jufen Liu, Yunping Lei, Lei Wang, Chao Guo

Faculty, Staff and Students Publications

No abstract provided.


Assessment Of The Cytolytic Potential Of A Multivirus-Targeted T Cell Therapy Using A Vital Dye-Based, Flow Cytometric Assay, Kiriakos Koukoulias, Penelope G Papayanni, Julia Jones, Manik Kuvalekar, Ayumi Watanabe, Yovana Velazquez, Sarah Gilmore, Anastasia Papadopoulou, Ann M Leen, Spyridoula Vasileiou Jan 2023

Assessment Of The Cytolytic Potential Of A Multivirus-Targeted T Cell Therapy Using A Vital Dye-Based, Flow Cytometric Assay, Kiriakos Koukoulias, Penelope G Papayanni, Julia Jones, Manik Kuvalekar, Ayumi Watanabe, Yovana Velazquez, Sarah Gilmore, Anastasia Papadopoulou, Ann M Leen, Spyridoula Vasileiou

Faculty, Staff and Students Publications

Reliable and sensitive characterization assays are important determinants of the successful clinical translation of immunotherapies. For the assessment of cytolytic potential, the chromium 51 (51Cr) release assay has long been considered the gold standard for testing effector cells. However, attaining the approvals to access and use radioactive isotopes is becoming increasingly complex, while technical aspects [i.e. sensitivity, short (4-6 hours) assay duration] may lead to suboptimal performance. This has been the case with our ex vivo expanded, polyclonal (CD4+ and CD8+) multivirus-specific T cell (multiVST) lines, which recognize 5 difficult-to-treat viruses [Adenovirus (AdV), BK virus (BKV), cytomegalovirus (CMV), Epstein Barr …


Structural Basis Of Ferroportin Inhibition By Minihepcidin Pr73, Azaan Saalim Wilbon, Jiemin Shen, Piotr Ruchala, Ming Zhou, Yaping Pan Jan 2023

Structural Basis Of Ferroportin Inhibition By Minihepcidin Pr73, Azaan Saalim Wilbon, Jiemin Shen, Piotr Ruchala, Ming Zhou, Yaping Pan

Faculty, Staff and Students Publications

Ferroportin (Fpn) is the only known iron exporter in humans and is essential for maintaining iron homeostasis. Fpn activity is suppressed by hepcidin, an endogenous peptide hormone, which inhibits iron export and promotes endocytosis of Fpn. Hepcidin deficiency leads to hemochromatosis and iron-loading anemia. Previous studies have shown that small peptides that mimic the first few residues of hepcidin, i.e., minihepcidins, are more potent than hepcidin. However, the mechanism of enhanced inhibition by minihepcidins remains unclear. Here, we report the structure of human ferroportin in complex with a minihepcidin, PR73 that mimics the first 9 residues of hepcidin, at 2.7 …


Brain Monoamine Vesicular Transport Disease Caused By Homozygous Slc18a2 Variants: A Study In 42 Affected Individuals, Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T Pagnamenta, Dana Marafi, Maha S Zaki, Thomas J O'Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gulsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, David Murphy, Natalia Dominik, Hasnaa M Elbendary, Karima Rafat, Sanem Yilmaz, Seda Kanmaz, Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhas, Tamison Jewett, Rachel E Goldberg, Hanan Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gozde Yesil, Esma Sengenc, Serhat Guler, Mariam Hull, Mered Parnes, Dilek Aktas, Banu Anlar, Yavuz Bayram, Davut Pehlivan, Jennifer E Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama Alabdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S Alkuraya, Joseph G Gleeson, Kristin G Monaghan, Katherine G Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André E X Brown, James R Lupski, Henry Houlden, Naomichi Matsumoto Jan 2023

Brain Monoamine Vesicular Transport Disease Caused By Homozygous Slc18a2 Variants: A Study In 42 Affected Individuals, Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T Pagnamenta, Dana Marafi, Maha S Zaki, Thomas J O'Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gulsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, David Murphy, Natalia Dominik, Hasnaa M Elbendary, Karima Rafat, Sanem Yilmaz, Seda Kanmaz, Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhas, Tamison Jewett, Rachel E Goldberg, Hanan Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gozde Yesil, Esma Sengenc, Serhat Guler, Mariam Hull, Mered Parnes, Dilek Aktas, Banu Anlar, Yavuz Bayram, Davut Pehlivan, Jennifer E Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama Alabdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S Alkuraya, Joseph G Gleeson, Kristin G Monaghan, Katherine G Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André E X Brown, James R Lupski, Henry Houlden, Naomichi Matsumoto

Faculty, Staff and Students Publications

Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists were efficient for treating affected individuals from a single large family. To date, only 6 variants have been reported. In this study, we evaluated genotype-phenotype correlations in individuals with biallelic SLC18A2 variants.

Methods: A total of 42 affected individuals with homozygous SLC18A2 variant alleles were identified. We evaluated genotype-phenotype correlations and the missense variants in the affected individuals based on the structural modeling of rat …


Editorial: Insights In Neurogenomics: 2022, Aayushi Gandhi, Sarah H Elsea Jan 2023

Editorial: Insights In Neurogenomics: 2022, Aayushi Gandhi, Sarah H Elsea

Faculty, Staff and Students Publications

No abstract provided.


Genetics In Medicine Open To Us All, Bo Yuan Jan 2023

Genetics In Medicine Open To Us All, Bo Yuan

Faculty, Staff and Students Publications

No abstract provided.


Second Virtual International Symposium On Cellular And Organismal Stress Responses, September 8-9, 2022, Patricija Van Oosten-Hawle, Sarah J Backe, Anat Ben-Zvi, Dimitra Bourboulia, Mara Brancaccio, Jeff Brodsky, Melody Clark, Giorgio Colombo, Marc B Cox, Paolo De Los Rios, Frank Echtenkamp, Adrienne Edkins, Brian Freeman, Pierre Goloubinoff, Walid Houry, Jill Johnson, Paul Lapointe, Wei Li, Valerie Mezger, Len Neckers, Nadinath B Nillegoda, Veena Prahlad, Adam Reitzel, Ruth Scherz-Shouval, Lea Sistonen, Francis T F Tsai, Mark R Woodford, Mehdi Mollapour, Andrew W Truman Jan 2023

Second Virtual International Symposium On Cellular And Organismal Stress Responses, September 8-9, 2022, Patricija Van Oosten-Hawle, Sarah J Backe, Anat Ben-Zvi, Dimitra Bourboulia, Mara Brancaccio, Jeff Brodsky, Melody Clark, Giorgio Colombo, Marc B Cox, Paolo De Los Rios, Frank Echtenkamp, Adrienne Edkins, Brian Freeman, Pierre Goloubinoff, Walid Houry, Jill Johnson, Paul Lapointe, Wei Li, Valerie Mezger, Len Neckers, Nadinath B Nillegoda, Veena Prahlad, Adam Reitzel, Ruth Scherz-Shouval, Lea Sistonen, Francis T F Tsai, Mark R Woodford, Mehdi Mollapour, Andrew W Truman

Faculty, Staff and Students Publications

The Second International Symposium on Cellular and Organismal Stress Responses took place virtually on September 8-9, 2022. This meeting was supported by the Cell Stress Society International (CSSI) and organized by Patricija Van Oosten-Hawle and Andrew Truman (University of North Carolina at Charlotte, USA) and Mehdi Mollapour (SUNY Upstate Medical University, USA). The goal of this symposium was to continue the theme from the initial meeting in 2020 by providing a platform for established researchers, new investigators, postdoctoral fellows, and students to present and exchange ideas on various topics on cellular stress and chaperones. We will summarize the highlights of …


The Role Of Neural And Genetic Processes In Learning To Read And Specific Reading Disabilities: Implications For Instruction, Jessica A Church, Elena L Grigorenko, Jack M Fletcher Jan 2023

The Role Of Neural And Genetic Processes In Learning To Read And Specific Reading Disabilities: Implications For Instruction, Jessica A Church, Elena L Grigorenko, Jack M Fletcher

Faculty, Staff and Students Publications

To learn to read, the brain must repurpose neural systems for oral language and visual processing to mediate written language. We begin with a description of computational models for how alphabetic written language is processed. Next, we explain the roles of a dorsal sublexical system in the brain that relates print and speech, a ventral lexical system that develops the visual expertise for rapid orthographic processing at the word level, and the role of cognitive control networks that regulate attentional processes as children read. We then use studies of children, adult illiterates learning to read, and studies of poor readers …


The Global Prevalence Of Autism Spectrum Disorder: A Three-Level Meta-Analysis, Oksana I Talantseva, Raisa S Romanova, Ekaterina M Shurdova, Tatiana A Dolgorukova, Polina S Sologub, Olga S Titova, Daria F Kleeva, Elena L Grigorenko Jan 2023

The Global Prevalence Of Autism Spectrum Disorder: A Three-Level Meta-Analysis, Oksana I Talantseva, Raisa S Romanova, Ekaterina M Shurdova, Tatiana A Dolgorukova, Polina S Sologub, Olga S Titova, Daria F Kleeva, Elena L Grigorenko

Faculty, Staff and Students Publications

Autism spectrum disorder (ASD) is one the most disabling developmental disorders, imposing an extremely high economic burden. Obtaining as accurate prevalence estimates as possible is crucial to guide governments in planning policies for identification and intervention for individuals with ASD and their relatives. The precision of prevalence estimates can be heightened by summative analyses of the data collected around the world. To that end, we conducted a three-level mixed-effects meta-analysis. A systematic search of the Web of Science, PubMed, EMBASE, and PsycINFO databases from 2000 up to 13 July 2020 was performed, and reference lists of previous reviews and existing …


Clinical Hypoxemia Score For Outpatient Child Pneumonia Care Lacking Pulse Oximetry In Africa And South Asia, Holly B Schuh, Shubhada Hooli, Salahuddin Ahmed, Carina King, Arunangshu D Roy, Norman Lufesi, Asmd Ashraful Islam, Tisungane Mvalo, Nabidul H Chowdhury, Amy Sarah Ginsburg, Tim Colbourn, William Checkley, Abdullah H Baqui, Eric D Mccollum Jan 2023

Clinical Hypoxemia Score For Outpatient Child Pneumonia Care Lacking Pulse Oximetry In Africa And South Asia, Holly B Schuh, Shubhada Hooli, Salahuddin Ahmed, Carina King, Arunangshu D Roy, Norman Lufesi, Asmd Ashraful Islam, Tisungane Mvalo, Nabidul H Chowdhury, Amy Sarah Ginsburg, Tim Colbourn, William Checkley, Abdullah H Baqui, Eric D Mccollum

Faculty, Staff and Students Publications

BACKGROUND: Pulse oximeters are not routinely available in outpatient clinics in low- and middle-income countries. We derived clinical scores to identify hypoxemic child pneumonia.

METHODS: This was a retrospective pooled analysis of two outpatient datasets of 3-35 month olds with World Health Organization (WHO)-defined pneumonia in Bangladesh and Malawi. We constructed, internally validated, and compared fit & discrimination of four models predicting SpO

RESULTS: 12,712 observations were included. The independent and composite LASSO models discriminated moderately (both C-statistic 0.77) between children with a SpO

CONCLUSIONS: In the absence of pulse oximeters, both LASSO models better identified outpatient hypoxemic pneumonia cases …


Clostridioides Difficile Infection In Hospitalized Pediatric Patients: Comparisons Of Epidemiology, Testing, And Treatment From 2013 To 2019, Price T Edwards, Cary W Thurm, Matthew Hall, Jordan D Busing, Stacy A Kahn, Richard Kellermayer, Larry K Kociolek, Maria M Oliva-Hemker, Julia S Sammons, Madison Weatherly, Kathryn M Edwards, Maribeth R Nicholson Jan 2023

Clostridioides Difficile Infection In Hospitalized Pediatric Patients: Comparisons Of Epidemiology, Testing, And Treatment From 2013 To 2019, Price T Edwards, Cary W Thurm, Matthew Hall, Jordan D Busing, Stacy A Kahn, Richard Kellermayer, Larry K Kociolek, Maria M Oliva-Hemker, Julia S Sammons, Madison Weatherly, Kathryn M Edwards, Maribeth R Nicholson

Faculty, Staff and Students Publications

OBJECTIVES: To compare the incidence, epidemiology, testing patterns, treatment, and outcomes of Clostridioides difficile infection (CDI) among hospitalized pediatric patients from 2013 to 2019.

STUDY DESIGN: The Pediatric Health Information System database was queried for patient admissions (age 0-17 years) with International Classification of Diseases, 9th and 10th edition, codes for diagnoses of CDI with a billing code for a CDI-related antibiotic treatment.

RESULTS: We identified 17 142 pediatric patients, representing 23 052 admissions, with CDI. The adjusted annual CDI incidence decreased over the study period from 7.09 cases per 10 000 patient-days (95% CI, 6.15-8.18) in 2013 to 4.89 …


A Systematic Review Of Associations Between Gut Microbiota Composition And Growth Failure In Preterm Neonates, Larissa L Neves, Amy B Hair, Geoffrey A Preidis Jan 2023

A Systematic Review Of Associations Between Gut Microbiota Composition And Growth Failure In Preterm Neonates, Larissa L Neves, Amy B Hair, Geoffrey A Preidis

Faculty, Staff and Students Publications

Growth failure is among the most prevalent and devastating consequences of prematurity. Up to half of all extremely preterm neonates struggle to grow despite modern nutrition practices. Although elegant preclinical models suggest causal roles for the gut microbiome, these insights have not yet translated into biomarkers that identify at-risk neonates or therapies that prevent or treat growth failure. This systematic review aims to identify features of the neonatal gut microbiota that are positively or negatively associated with early postnatal growth. We identified 860 articles, of which 14 were eligible for inclusion. No two studies used the same definitions of growth, …


Emerging Issues In Probiotic Safety: 2023 Perspectives, Daniel Merenstein, Bruno Pot, Gregory Leyer, Arthur C Ouwehand, Geoffrey A Preidis, Christopher A Elkins, Colin Hill, Zachery T Lewis, Andi L Shane, Niv Zmora, Mariya I Petrova, Maria Carmen Collado, Lorenzo Morelli, Gina A Montoya, Hania Szajewska, Daniel J Tancredi, Mary Ellen Sanders Jan 2023

Emerging Issues In Probiotic Safety: 2023 Perspectives, Daniel Merenstein, Bruno Pot, Gregory Leyer, Arthur C Ouwehand, Geoffrey A Preidis, Christopher A Elkins, Colin Hill, Zachery T Lewis, Andi L Shane, Niv Zmora, Mariya I Petrova, Maria Carmen Collado, Lorenzo Morelli, Gina A Montoya, Hania Szajewska, Daniel J Tancredi, Mary Ellen Sanders

Faculty, Staff and Students Publications

Probiotics are used for both generally healthy consumers and in clinical settings. However, theoretical and proven adverse events from probiotic consumption exist. New probiotic strains and products, as well as expanding use of probiotics into vulnerable populations, warrants concise, and actionable recommendations on how to work toward their safe and effective use. The International Scientific Association for Probiotics and Prebiotics convened a meeting to discuss and produce evidence-based recommendations on potential acute and long-term risks, risks to vulnerable populations, the importance for probiotic product quality to match the needs of vulnerable populations, and the need for adverse event reporting related …


Cholestasis Impairs Gut Microbiota Development And Bile Salt Hydrolase Activity In Preterm Neonates, Lauren E Lynch, Amy B Hair, Krishnakant G Soni, Heeju Yang, Laura A Gollins, Monica Narvaez-Rivas, Kenneth D R Setchell, Geoffrey A Preidis Jan 2023

Cholestasis Impairs Gut Microbiota Development And Bile Salt Hydrolase Activity In Preterm Neonates, Lauren E Lynch, Amy B Hair, Krishnakant G Soni, Heeju Yang, Laura A Gollins, Monica Narvaez-Rivas, Kenneth D R Setchell, Geoffrey A Preidis

Faculty, Staff and Students Publications

Cholestasis refers to impaired bile flow from the liver to the intestine. In neonates, cholestasis causes poor growth and may progress to liver failure and death. Normal bile flow requires an intact liver-gut-microbiome axis, whereby liver-derived primary bile acids are transformed into secondary bile acids. Microbial bile salt hydrolase (BSH) enzymes are responsible for the first step, deconjugating glycine- and taurine-conjugated primary bile acids. Cholestatic neonates often are treated with the potent choleretic bile acid ursodeoxycholic acid (UDCA), although interactions between UDCA, gut microbes, and other bile acids are poorly understood. To gain insight into how the liver-gut-microbiome axis develops …