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Full-Text Articles in Medical Specialties

Sphingolipids In Neurodegenerative Diseases, Xueyang Pan, Debdeep Dutta, Shenzhao Lu, Hugo J Bellen Jan 2023

Sphingolipids In Neurodegenerative Diseases, Xueyang Pan, Debdeep Dutta, Shenzhao Lu, Hugo J Bellen

Faculty, Staff and Students Publications

Neurodegenerative Diseases (NDDs) are a group of disorders that cause progressive deficits of neuronal function. Recent evidence argues that sphingolipid metabolism is affected in a surprisingly broad set of NDDs. These include some lysosomal storage diseases (LSDs), hereditary sensory and autonomous neuropathy (HSAN), hereditary spastic paraplegia (HSP), infantile neuroaxonal dystrophy (INAD), Friedreich’s ataxia (FRDA), as well as some forms of amyotrophic lateral sclerosis (ALS) and Parkinson’s disease (PD). Many of these diseases have been modeled in Drosophila melanogaster and are associated with elevated levels of ceramides. Similar changes have also been reported in vertebrate cells and mouse models. Here, we …


Chromosomal Microarray Analysis Supplements Exome Sequencing To Diagnose Children With Suspected Inborn Errors Of Immunity, Breanna J Beers, Morgan N Similuk, Rajarshi Ghosh, Bryce A Seifert, Leila Jamal, Michael Kamen, Michael R Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Andrew J Oler, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibiana Bielekova, Pamela Frischmeyer-Guerrerio, An Dang Do, Laryssa A Huryn, Kenneth N Olivier, Helen C Su, Jonathan J Lyons, Christa S Zerbe, V Koneti Rao, Michael D Keller, Alexandra F Freeman, Steven M Holland, Luis M Franco, Magdalena A Walkiewicz, Jia Yan Jan 2023

Chromosomal Microarray Analysis Supplements Exome Sequencing To Diagnose Children With Suspected Inborn Errors Of Immunity, Breanna J Beers, Morgan N Similuk, Rajarshi Ghosh, Bryce A Seifert, Leila Jamal, Michael Kamen, Michael R Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Andrew J Oler, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibiana Bielekova, Pamela Frischmeyer-Guerrerio, An Dang Do, Laryssa A Huryn, Kenneth N Olivier, Helen C Su, Jonathan J Lyons, Christa S Zerbe, V Koneti Rao, Michael D Keller, Alexandra F Freeman, Steven M Holland, Luis M Franco, Magdalena A Walkiewicz, Jia Yan

Faculty, Staff and Students Publications

PURPOSE: Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. We sought to determine the diagnostic contribution of CNVs using genome-wide chromosomal microarray analysis (CMA) in children with IEI.

METHODS: We performed exome sequencing (ES) and CMA for 332 unrelated pediatric probands referred for evaluation of IEI. The analysis included primary, secondary, and incidental findings.

RESULTS: Of the 332 probands, 134 (40.4%) received molecular diagnoses. Of these, 116/134 (86.6%) were diagnosed by ES alone. An additional 15/134 (11.2%) were diagnosed by …


Impact Of Covid-19 In Patients Hospitalized With Stress Cardiomyopathy: A Nationwide Analysis, Adrija Hajra, Aaqib Malik, Dhrubajyoti Bandyopadhyay, Akshay Goel, Ameesh Isath, Rahul Gupta, Suraj Krishnan, Devesh Rai, Chayakrit Krittanawong, Salim S Virani, Gregg C Fonarow, Carl J Lavie Jan 2023

Impact Of Covid-19 In Patients Hospitalized With Stress Cardiomyopathy: A Nationwide Analysis, Adrija Hajra, Aaqib Malik, Dhrubajyoti Bandyopadhyay, Akshay Goel, Ameesh Isath, Rahul Gupta, Suraj Krishnan, Devesh Rai, Chayakrit Krittanawong, Salim S Virani, Gregg C Fonarow, Carl J Lavie

Faculty, Staff and Students Publications

Stress cardiomyopathy was noted to occur at a higher incidence during coronavirus disease of 2019 (COVID-19) pandemic. This database analysis has been done to compare the in-hospital outcomes in patients with stress cardiomyopathy and concurrent COVID-19 infection with those without COVID-19 infection. The National Inpatient Sample database for the year 2020 was queried to identify all admissions diagnosed with stress cardiomyopathy. These patients were then stratified based on whether they had concomitant COVID-19 infection or not. A 1:1 propensity score matching was performed. Multivariate logistic regression analysis was done to identify predictors of mortality. We identified 41,290 hospitalizations for stress …


Malignant Insulinoma Arising From Nonfunctioning Pancreatic Neuroendocrine Tumor, Ritodhi Chatterjee, Basim Ali, Son H Nguyen, Rui Chen, Yvonne H Sada Jan 2023

Malignant Insulinoma Arising From Nonfunctioning Pancreatic Neuroendocrine Tumor, Ritodhi Chatterjee, Basim Ali, Son H Nguyen, Rui Chen, Yvonne H Sada

Faculty, Staff and Students Publications

Pancreatic neuroendocrine tumors are rare neoplasms characterized into nonfunctioning (NF-PNET) and functioning (F-PNET) subtypes. F-PNETs typically involve overt symptoms related to excessive hormone secretion but may rarely present first as NF-PNETs with delayed transformation. We present a patient with known NF-PNET with liver metastases who developed hypoglycemia 2 years after initial diagnosis due to malignant insulinoma. Hypoglycemia was refractory to continuous dextrose but improved temporarily after diazoxide and hepatic artery embolization. Malignant insulinomas are usually metastatic at presentation and portend poor prognosis. Hypoglycemia may be medically managed with steroids, somatostatin analogues, and diazoxide, along with therapies to reduce tumor burden.


Editorial: Tumor Metabolism: From Molecular Mechanisms To Clinical Application, Chunming Cheng, Si Zhang, Dongyin Guan, Yi Wang, Nidhi Jyotsana Jan 2023

Editorial: Tumor Metabolism: From Molecular Mechanisms To Clinical Application, Chunming Cheng, Si Zhang, Dongyin Guan, Yi Wang, Nidhi Jyotsana

Faculty, Staff and Students Publications

No abstract provided.


Corrigendum: Clinical And Immunological Effects Of P53-Targeting Vaccines, Shan Zhou, Chunmei Fan, Zhaoyang Zeng, Ken H Young, Yong Li Jan 2023

Corrigendum: Clinical And Immunological Effects Of P53-Targeting Vaccines, Shan Zhou, Chunmei Fan, Zhaoyang Zeng, Ken H Young, Yong Li

Faculty, Staff and Students Publications

[This corrects the article DOI: 10.3389/fcell.2021.762796.].


Predictive Factors And Prognosis Of Upper Gastrointestinal Bleeding In Gastric Cancer: A Large Population-Based Study (Ugib-Gc Trial), Anya Kiattiweerasak, Phubordee Bongkotvirawan, Natsuda Aumpan, Yoshio Yamaoka, Muhammad Miftahussurur, Ratha-Korn Vilaichone Jan 2023

Predictive Factors And Prognosis Of Upper Gastrointestinal Bleeding In Gastric Cancer: A Large Population-Based Study (Ugib-Gc Trial), Anya Kiattiweerasak, Phubordee Bongkotvirawan, Natsuda Aumpan, Yoshio Yamaoka, Muhammad Miftahussurur, Ratha-Korn Vilaichone

Faculty, Staff and Students Publications

Background: Gastric cancer remains the fourth leading cause of cancer-related death worldwide. Significant number of gastric cancer patients presented with bleeding.

Objective: This study aimed to identify risk factors and overall survival rates of bleeding gastric cancer patients.

Methods: This retrospective cohort study was conducted between 2007-2022 at tertiary care center in Thailand. Clinical information, endoscopic findings and histological type were extensively reviewed and were compared between bleeders and non-bleeders. Patients were monitored for at least 5 years.

Results: There were 20,981 patients who underwent upper gastrointestinal endoscopy during study period. Total of 201 gastric cancer patients were included in …


Perspective: Developing Future Veterans Affairs Scientists Through A Diversity, Equity, And Inclusion Program, Darius B Dawson, Valerie Lewis, Terri L Fletcher, Robert Hal Scofield Jan 2023

Perspective: Developing Future Veterans Affairs Scientists Through A Diversity, Equity, And Inclusion Program, Darius B Dawson, Valerie Lewis, Terri L Fletcher, Robert Hal Scofield

Faculty, Staff and Students Publications

For >95 years, the Department of Veterans Affairs Office of Research and Development (ORD) has been improving the lives of Veterans and all Americans through health care discovery and innovation. Scientists and trainees from diverse backgrounds and life experiences bring different perspectives and creativity to address complex health-related problems, which helps to foster scientific innovation, improve quality of research, and advance the likelihood that underserved populations participate in and benefit from clinical and health services research. In this study, we will discuss our experiences in developing future scientists through mentored research supplements supported by ORD.


Stereo-Eeg-Guided Network Modulation For Psychiatric Disorders: Surgical Considerations, Sameer A Sheth, Ben Shofty, Anusha Allawala, Jiayang Xiao, Joshua A Adkinson, Raissa K Mathura, Victoria Pirtle, John Myers, Denise Oswalt, Nicole R Provenza, Nisha Giridharan, Angela M Noecker, Garrett P Banks, Ron Gadot, Ricardo A Najera, Adrish Anand, Ethan Devara, Huy Dang, Eleonora Bartoli, Andrew Watrous, Jeffrey Cohn, David Borton, Sanjay J Mathew, Cameron C Mcintyre, Wayne Goodman, Kelly Bijanki, Nader Pouratian Jan 2023

Stereo-Eeg-Guided Network Modulation For Psychiatric Disorders: Surgical Considerations, Sameer A Sheth, Ben Shofty, Anusha Allawala, Jiayang Xiao, Joshua A Adkinson, Raissa K Mathura, Victoria Pirtle, John Myers, Denise Oswalt, Nicole R Provenza, Nisha Giridharan, Angela M Noecker, Garrett P Banks, Ron Gadot, Ricardo A Najera, Adrish Anand, Ethan Devara, Huy Dang, Eleonora Bartoli, Andrew Watrous, Jeffrey Cohn, David Borton, Sanjay J Mathew, Cameron C Mcintyre, Wayne Goodman, Kelly Bijanki, Nader Pouratian

Faculty, Staff and Students Publications

BACKGROUND: Deep brain stimulation (DBS) and other neuromodulatory techniques are being increasingly utilized to treat refractory neurologic and psychiatric disorders.

OBJECTIVE: /Hypothesis: To better understand the circuit-level pathophysiology of treatment-resistant depression (TRD) and treat the network-level dysfunction inherent to this challenging disorder, we adopted an approach of inpatient intracranial monitoring borrowed from the epilepsy surgery field.

METHODS: We implanted 3 patients with 4 DBS leads (bilateral pair in both the ventral capsule/ventral striatum and subcallosal cingulate) and 10 stereo-electroencephalography (sEEG) electrodes targeting depression-relevant network regions. For surgical planning, we used an interactive, holographic visualization platform to appreciate the 3D anatomy …


5-Aminolevulinic Acid, Fluorescein Sodium, And Indocyanine Green For Glioma Margin Detection: Analysis Of Operating Wide-Field And Confocal Microscopy In Glioma Models Of Various Grades, Evgenii Belykh, Liudmila Bardonova, Irakliy Abramov, Vadim A Byvaltsev, Talgat Kerymbayev, Kwanha Yu, Debbie R Healey, Ernesto Luna-Melendez, Benjamin Deneen, Shwetal Mehta, James K Liu, Mark C Preul Jan 2023

5-Aminolevulinic Acid, Fluorescein Sodium, And Indocyanine Green For Glioma Margin Detection: Analysis Of Operating Wide-Field And Confocal Microscopy In Glioma Models Of Various Grades, Evgenii Belykh, Liudmila Bardonova, Irakliy Abramov, Vadim A Byvaltsev, Talgat Kerymbayev, Kwanha Yu, Debbie R Healey, Ernesto Luna-Melendez, Benjamin Deneen, Shwetal Mehta, James K Liu, Mark C Preul

Faculty, Staff and Students Publications

INTRODUCTION: Surgical resection remains the first-line treatment for gliomas. Several fluorescent dyes are currently in use to augment intraoperative tumor visualization, but information on their comparative effectiveness is lacking. We performed systematic assessment of fluorescein sodium (FNa), 5-aminolevulinic acid (5-ALA)-induced protoporphyrin IX (PpIX), and indocyanine green (ICG) fluorescence in various glioma models using advanced fluorescence imaging techniques.

METHODS: Four glioma models were used: GL261 (high-grade model), GB3 (low-grade model), and an

RESULTS: Our systematic analysis showed that wide-field imaging of highly malignant gliomas is equally efficient with 5-ALA, FNa, and ICG, although FNa is associated with more false-positive staining of …


Primary Spinal Intramedullary Anaplastic Ganglioglioma In A Pediatric Patient, Huy Dang, Abdul Basit Khan, Nisha Gadgil, Marc Prablek, Frank Y Lin, Melissa M Blessing, Guillermo Aldave, David Bauer Jan 2023

Primary Spinal Intramedullary Anaplastic Ganglioglioma In A Pediatric Patient, Huy Dang, Abdul Basit Khan, Nisha Gadgil, Marc Prablek, Frank Y Lin, Melissa M Blessing, Guillermo Aldave, David Bauer

Faculty, Staff and Students Publications

BACKGROUND: Gangliogliomas (GGs) are rare tumors of the central nervous system composed of neoplastic neural and glial cells and are typically low-grade. Intramedullary spinal anaplastic GGs (AGG) are rare, poorly understood, and often aggressive tumors that can result in widespread progression along the craniospinal axis. Due to the rarity of these tumors, data are lacking to guide clinical and pathologic diagnosis and standard of care treatment. Here, we present a case of pediatric spinal AGG to provide information on our institutional approach to work-up and to highlight unique molecular pathology.

CASE DESCRIPTION: A 13-year-old female presented with signs of spinal …


Linked-Read Based Analysis Of The Medulloblastoma Genome, Melissa Zwaig, Michael J Johnston, John J Y Lee, Hamza Farooq, Marco Gallo, Nada Jabado, Michael D Taylor, Jiannis Ragoussis Jan 2023

Linked-Read Based Analysis Of The Medulloblastoma Genome, Melissa Zwaig, Michael J Johnston, John J Y Lee, Hamza Farooq, Marco Gallo, Nada Jabado, Michael D Taylor, Jiannis Ragoussis

Faculty, Staff and Students Publications

INTRODUCTION: Medulloblastoma is the most common type of malignant pediatric brain tumor with group 4 medulloblastomas (G4 MBs) accounting for 40% of cases. However, the molecular mechanisms that underlie this subgroup are still poorly understood. Point mutations are detected in a large number of genes at low incidence per gene while the detection of complex structural variants in recurrently affected genes typically requires the application of long-read technologies.

METHODS: Here, we applied linked-read sequencing, which combines the long-range genome information of long-read sequencing with the high base pair accuracy of short read sequencing and very low sample input requirements.

RESULTS: …


Inotropic Score And Vasoactive Inotropic Score As Predictors Of Outcomes In Congenital Diaphragmatic Hernia: A Single Center Retrospective Study, Srirupa Hari Gopal, Cynthia L Toy, Morcos Hanna, Betul Yilmaz Furtun, Joseph L Hagan, Ahmed A Nassr, Caraciolo J Fernandes, Sundeep Keswani, Sharada H Gowda Jan 2023

Inotropic Score And Vasoactive Inotropic Score As Predictors Of Outcomes In Congenital Diaphragmatic Hernia: A Single Center Retrospective Study, Srirupa Hari Gopal, Cynthia L Toy, Morcos Hanna, Betul Yilmaz Furtun, Joseph L Hagan, Ahmed A Nassr, Caraciolo J Fernandes, Sundeep Keswani, Sharada H Gowda

Faculty, Staff and Students Publications

BACKGROUND: Neonates with congenital diaphragmatic hernia (CDH) have varying degrees of pulmonary hypoplasia, pulmonary hypertension (PH) and cardiac dysfunction. These neonates frequently require vasoactive support and are at high risk for mortality and morbidity, including prolonged ventilator support, need for extracorporeal membrane oxygenation (ECMO), prolonged length of stay, and need for tracheostomy. However, identifying which infants are at increased risk can be challenging. In this study, we sought to investigate the utility of the inotropic score (IS) and vasoactive inotropic score (VIS) as tools to predict significant clinical outcomes and overall survival in patients with CDH. Additionally, we evaluated the …


Bridging Science And Spirituality: The Intersection Of Religion And Public Health In The Covid-19 Pandemic, Shahana Ayub, Gibson O Anugwom, Tajudeen Basiru, Vishi Sachdeva, Nazar Muhammad, Anil Bachu, Maxwell Trudeau, Gazal Gulati, Amanda Sullivan, Saeed Ahmed, Lakshit Jain Jan 2023

Bridging Science And Spirituality: The Intersection Of Religion And Public Health In The Covid-19 Pandemic, Shahana Ayub, Gibson O Anugwom, Tajudeen Basiru, Vishi Sachdeva, Nazar Muhammad, Anil Bachu, Maxwell Trudeau, Gazal Gulati, Amanda Sullivan, Saeed Ahmed, Lakshit Jain

Faculty, Staff and Students Publications

BACKGROUND: The COVID-19 pandemic has had global impacts on social interactions and religious activities, leading to a complex relationship between religion and public health policies. This article reviews impact of the COVID-19 pandemic on religious activities and beliefs in relation to the spread of the virus, as well as the potential of religious leaders and faith communities in mitigating the impact of the pandemic through public health measures and community engagement.

METHODS: A literature review was conducted using PubMed and Google Scholar, with search terms including "religion," "COVID-19," "pandemic," "coronavirus," and "spirituality." We included English articles published between January 2020 …


Unmet Needs And Coping Strategies Of Older Underserved Veterans During The Covid-19 Pandemic, Trenton M Haltom, Joyce Tiong, Tracy L Evans, Nipa Kamdar, Gala True, Mark E Kunik Jan 2023

Unmet Needs And Coping Strategies Of Older Underserved Veterans During The Covid-19 Pandemic, Trenton M Haltom, Joyce Tiong, Tracy L Evans, Nipa Kamdar, Gala True, Mark E Kunik

Faculty, Staff and Students Publications

INTRODUCTION: The COVID-19 pandemic has had profound impacts on people with diabetes, a group with high morbidity and mortality. Factors like race, age, income, Veteran-status, and limited or interrupted resources early in the COVID-19 pandemic compounded risks for negative health outcomes. Our objective was to characterize the experiences and needs of under-resourced Veterans with type 2 diabetes during the COVID-19 pandemic.

METHODS: We conducted semi-structured qualitative interviews (March through September 2021) with U.S. military Veterans with diabetes. Transcripts were analyzed using a team-based, iterative process of summarizing and coding to identify key themes. Participants included Veterans (n = 25) who …


Fresh Takes On Five Health Data Sharing Domains: Quality, Privacy, Equity, Incentives, And Sustainability, Christi J Guerrini, Mary A Majumder, Jill O Robinson, Robert Cook-Deegan, Matthew Blank, Juli Bollinger, Janis Geary, Amanda M Gutierrez, Maya Shrikant, Amy L Mcguire Jan 2023

Fresh Takes On Five Health Data Sharing Domains: Quality, Privacy, Equity, Incentives, And Sustainability, Christi J Guerrini, Mary A Majumder, Jill O Robinson, Robert Cook-Deegan, Matthew Blank, Juli Bollinger, Janis Geary, Amanda M Gutierrez, Maya Shrikant, Amy L Mcguire

Faculty, Staff and Students Publications

As entities around the world invest in repositories and other infrastructure to facilitate health data sharing, scalable solutions to data sharing challenges are needed. We conducted semi-structured interviews with 24 experts to explore views on potential issues and policy options related to health data sharing. In this Perspective, we describe and contextualize unconventional insights shared by our interviewees relevant to issues in five domains: data quality, privacy, equity, incentives, and sustainability. These insights question a focus on granular quality metrics for gatekeeping; challenge enthusiasm for maximalist risk disclosure practices; call attention to power dynamics that potentially compromise the patient's voice; …


Calcitonin Gene-Related Peptide Protects From Soluble Fms-Like Tyrosine Kinase-1-Induced Vascular Dysfunction In A Preeclampsia Mouse Model, Akansha Mishra, Ancizar Betancourt, Vipin Alukkal Vidyadharan, Chellakkan Selvanesan Blesson, Michael Belfort, Chandra Yallampalli, Madhu Chauhan Jan 2023

Calcitonin Gene-Related Peptide Protects From Soluble Fms-Like Tyrosine Kinase-1-Induced Vascular Dysfunction In A Preeclampsia Mouse Model, Akansha Mishra, Ancizar Betancourt, Vipin Alukkal Vidyadharan, Chellakkan Selvanesan Blesson, Michael Belfort, Chandra Yallampalli, Madhu Chauhan

Faculty, Staff and Students Publications

Introduction: Preeclampsia (PE) is a hypertensive disorder during pregnancy associated with elevated levels of soluble FMS-like tyrosine kinase (sFLT-1) and increased vascular sensitivity to angiotensin II (ATII). Calcitonin gene-related peptide (CALCA) is a potent vasodilator that inhibits the ATII-induced increase in blood pressure and protects against ATII-induced increases in oxidative stress through a mitochondrial-dependent pathway in male mice. In rodent pregnancy, CALCA facilitates pregnancy-induced vascular adaptation. Most of the vascular effects of CALCA are mediated by vascular smooth muscle cells (VSMCs). We recently reported that CALCA treatment inhibits sFLT-1-induced decreases in cAMP synthesis in omental artery smooth muscle cells (OASMCs) …


Role Of Adrenomedullin2/ Intermedin In Pregnancy Induced Vascular And Metabolic Adaptation In Mice, Chandra Yallampalli, Ancizar Betancourt, Akansha Mishra, Kathleen A Pennington, Simone Hernandez Ruano, Moises Tacam, Madhu Chauhan Jan 2023

Role Of Adrenomedullin2/ Intermedin In Pregnancy Induced Vascular And Metabolic Adaptation In Mice, Chandra Yallampalli, Ancizar Betancourt, Akansha Mishra, Kathleen A Pennington, Simone Hernandez Ruano, Moises Tacam, Madhu Chauhan

Faculty, Staff and Students Publications

Introduction: Adrenomedullin2 (AM2) shares its receptor with Calcitonin gene related peptide and adrenomedullin with overlapping but distinct biological functions. Goal of this study was to assess the specific role of Adrenomedullin2 (AM2) in pregnancy induced vascular and metabolic adaptation using AM2 knockout mice (AM2 −/−).

Method : The AM2 −/− mice were successfully generated using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Nuclease Cas nine system. Phenotype of pregnant AM2 −/− mice was assessed with respect to its fertility, blood pressure regulation, vascular health and metabolic adaptations and compared to the wild type littermates (AM2 +/+).

Results …


Non-Invasive And Objective Tear Film Breakup Detection On Interference Color Images Using Convolutional Neural Networks, Yasushi Kikukawa, Shin Tanaka, Takuya Kosugi, Stephen C Pflugfelder Jan 2023

Non-Invasive And Objective Tear Film Breakup Detection On Interference Color Images Using Convolutional Neural Networks, Yasushi Kikukawa, Shin Tanaka, Takuya Kosugi, Stephen C Pflugfelder

Faculty, Staff and Students Publications

PURPOSE: Dry eye disease affects hundreds of millions of people worldwide and is one of the most common causes for visits to eye care practitioners. The fluorescein tear breakup time test is currently widely used to diagnose dry eye disease, but it is an invasive and subjective method, thus resulting in variability in diagnostic results. This study aimed to develop an objective method to detect tear breakup using the convolutional neural networks on the tear film images taken by the non-invasive device KOWA DR-1α.

METHODS: The image classification models for detecting characteristics of tear film images were constructed using transfer …


Delphi Panel Consensus Regarding Current Clinical Practice Management Options For Demodex Blepharitis, Marjan Farid, Brandon D Ayres, Eric Donnenfeld, Ian Benjamin Gaddie, Preeya K Gupta, Edward Holland, Richard Lindstrom, Stephen C Pflugfelder, Paul M Karpecki, Kelly K Nichols, Christopher E Starr, Elizabeth Yeu Jan 2023

Delphi Panel Consensus Regarding Current Clinical Practice Management Options For Demodex Blepharitis, Marjan Farid, Brandon D Ayres, Eric Donnenfeld, Ian Benjamin Gaddie, Preeya K Gupta, Edward Holland, Richard Lindstrom, Stephen C Pflugfelder, Paul M Karpecki, Kelly K Nichols, Christopher E Starr, Elizabeth Yeu

Faculty, Staff and Students Publications

PURPOSE: To obtain consensus on Demodex blepharitis (DB) treatment using a modified Delphi panel process.

METHODS: Literature search identified gaps in knowledge surrounding treatment of DB. Twelve ocular surface disease experts comprised the Demodex Expert Panel on Treatment and Eyelid Health (DEPTH). They completed a live roundtable discussion in addition to 3 surveys consisting of scaled, open-ended, true/false, and multiple-choice questions pertaining to the treatment of DB. Consensus for scaled questions using a 1 to 9 Likert scale was predefined as median scores of 7–9 and 1–3. For other question types, consensus was achieved when 8 of 12 panelists agreed. …


Multimodal Imaging Of Choroidal Lesions In An Elderly Man With Uveal Lymphoid Hyperplasia, John R Chancellor, Christina Y Weng Jan 2023

Multimodal Imaging Of Choroidal Lesions In An Elderly Man With Uveal Lymphoid Hyperplasia, John R Chancellor, Christina Y Weng

Faculty, Staff and Students Publications

Purpose: To describe the case of an elderly man who was incidentally found to have multiple hypopigmented choroidal lesions in the left eye in the absence of intraocular inflammation. Methods: A case report was analyzed, including the laboratory workup and imaging results. Results: The workup for conditions, including birdshot chorioretinopathy, syphilis, and tuberculosis, were negative. Ancillary imaging confirmed a diagnosis of uveal lymphoid hyperplasia (ULH). The patient was stable under observation for more than 1 year. Conclusions: Careful examination and imaging findings can aid in differentiating between ULH and other diagnoses.


Lead Cap Use In Interventional Cardiology: Time To Protect Our Head In The Cardiac Catheterisation Laboratory?, Yasar Sattar, Prasanna M Sengodan, Mustafa Sajjad Cheema, Nismat Javed, Shoaib Ashraf, Sadaf Fakhra, Anas Alharbi, Moinuddin Syed, Mahboob Alam, Islam Y Elgendy, Affan Haleem, Akram Kawsara, M Chadi Alraies, Ramesh Daggubati Jan 2023

Lead Cap Use In Interventional Cardiology: Time To Protect Our Head In The Cardiac Catheterisation Laboratory?, Yasar Sattar, Prasanna M Sengodan, Mustafa Sajjad Cheema, Nismat Javed, Shoaib Ashraf, Sadaf Fakhra, Anas Alharbi, Moinuddin Syed, Mahboob Alam, Islam Y Elgendy, Affan Haleem, Akram Kawsara, M Chadi Alraies, Ramesh Daggubati

Faculty, Staff and Students Publications

Background: Radiation exposure is an occupational hazard for interventional cardiologists and cardiac catheterisation laboratory staff that can manifest with serious long-term health consequences. Personal protective equipment, including lead jackets and glasses, is common, but the use of radiation protective lead caps is inconsistent.

Methods: A systematic review qualitative assessment of five observational studies using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines protocol was performed.

Results: It was concluded that lead caps significantly reduce radiation exposure to the head, even when a ceiling-mounted lead shield was present.

Conclusion: Although newer protective systems are being …


Factor V Leiden-Independent Activated Protein C Resistance: Communication From The Plasma Coagulation Inhibitors Subcommittee Of The International Society On Thrombosis And Haemostasis Scientific And Standardisation Committee, Gary W Moore, Elisabetta Castoldi, Jun Teruya, Eriko Morishita, Dorothy M Adcock Jan 2023

Factor V Leiden-Independent Activated Protein C Resistance: Communication From The Plasma Coagulation Inhibitors Subcommittee Of The International Society On Thrombosis And Haemostasis Scientific And Standardisation Committee, Gary W Moore, Elisabetta Castoldi, Jun Teruya, Eriko Morishita, Dorothy M Adcock

Faculty, Staff and Students Publications

Activated protein C resistance (APC-R) due to the single-nucleotide polymorphism factor V Leiden (FVL) is the most common cause of hereditary thrombophilia. It is found predominantly in Caucasians and is uncommon or absent in other populations. Although FVL is responsible for >90% of cases of hereditary APC-R, a number of other F5 variants that also confer various degrees of APC-R and thrombotic risk have been described. Acquired APC-R due to increased levels of coagulation factors, reduced levels of inhibitors, or the presence of autoantibodies occurs in a variety of conditions and is an independent risk factor for thrombosis. It is …


The Use Of Reframing: Increasing The Importance Of Lifestyle Medicine, Molly R Vega, Saad Nadeem, Elizabeth M Vaughan, Craig A Johnston Jan 2023

The Use Of Reframing: Increasing The Importance Of Lifestyle Medicine, Molly R Vega, Saad Nadeem, Elizabeth M Vaughan, Craig A Johnston

Faculty, Staff and Students Publications

Lifestyle behavior modification is an essential component to prevention and treatment of non-communicable diseases worldwide. For the last 40 years, studies have recognized that there is suboptimal training of physicians in lifestyle medicine and its implementation in clinical settings. The lack of nutrition and exercise counseling occurring in the medical office does not reflect the high level of evidence supporting its use. Lifestyle behavior counseling is complex; as are the individualized needs of patients. Therefore, we suspect that the lack of knowledge in nutrition and exercise prescriptions are not the only barriers to providing optimal care. Reframing lifestyle medicine interventions …


The Rationale And Logistics For Incorporating Community Health Workers Into The Multidisciplinary Team, Elizabeth M Vaughan, Aliye B Cepni, Uyen Phuong N Le, Craig A Johnston Jan 2023

The Rationale And Logistics For Incorporating Community Health Workers Into The Multidisciplinary Team, Elizabeth M Vaughan, Aliye B Cepni, Uyen Phuong N Le, Craig A Johnston

Faculty, Staff and Students Publications

Community Health Workers (CHWs) have shown value in diabetes care. CHWs are often the individuals who provide behavioral lifestyle intervention to underserved communities and are often the first to assist patients in gaining appropriate access to care. As trusted members of their communities, they have the ability to significantly impact psychosocial and biomedical outcomes, making them important members of the behavioral medicine team. However, lack of recognition of CHWs within multidisciplinary teams (MDTs) gives rise to the issue of the underutilization of their services. Therefore, barriers to including CHWs in MDTs including standardized training and strategies to overcome these are …


Cardiovascular Disease Risk Stratification In The Pakistani Population With And Without Metabolic Syndrome: A Single Centre Cross-Sectional Study, Amber Hanif Palla, Asad Saulat Fatimi, Salim S Virani, Syeda Sadia Fatima Jan 2023

Cardiovascular Disease Risk Stratification In The Pakistani Population With And Without Metabolic Syndrome: A Single Centre Cross-Sectional Study, Amber Hanif Palla, Asad Saulat Fatimi, Salim S Virani, Syeda Sadia Fatima

Faculty, Staff and Students Publications

Existing atherosclerotic cardiovascular disease (ASCVD) risk stratification algorithms are predominantly validated only for Western populations, and do not include parameters of metabolic syndrome (MetS) which may increase the relative risk for cardiovascular disease in South Asians. This study aimed to compare the differences between 10-year ASCVD risk by the Framingham Risk Score (FRS), Pooled Cohort Risk Equations (PCE), and QRISK3 calculators in a cohort of apparently healthy Pakistani adults and stratify the ASCVD risk by MetS status.A cross-sectional study recruited 179 subjects between the ages of 40 to 74 years from the outpatient department of the Aga Khan University Hospital …


Variantsurvival: A Tool To Identify Genotype-Treatment Response, Thomas Krannich, Marina Herrera Sarrias, Hiba Ben Aribi, Moustafa Shokrof, Alfredo Iacoangeli, Ammar Al-Chalabi, Fritz J Sedlazeck, Ben Busby, Ahmad Al Khleifat Jan 2023

Variantsurvival: A Tool To Identify Genotype-Treatment Response, Thomas Krannich, Marina Herrera Sarrias, Hiba Ben Aribi, Moustafa Shokrof, Alfredo Iacoangeli, Ammar Al-Chalabi, Fritz J Sedlazeck, Ben Busby, Ahmad Al Khleifat

Faculty, Staff and Students Publications

Associated Data


Cloud-Native Distributed Genomic Pileup Operations, Marek Wiewiórka, Agnieszka Szmurło, Paweł Stankiewicz, Tomasz Gambin Jan 2023

Cloud-Native Distributed Genomic Pileup Operations, Marek Wiewiórka, Agnieszka Szmurło, Paweł Stankiewicz, Tomasz Gambin

Faculty, Staff and Students Publications

MOTIVATION: Pileup analysis is a building block of many bioinformatics pipelines, including variant calling and genotyping. This step tends to become a bottleneck of the entire assay since the straightforward pileup implementations involve processing of all base calls from all alignments sequentially. On the other hand, a distributed version of the algorithm faces the intrinsic challenge of splitting reads-oriented file formats into self-contained partitions to avoid costly data exchange between computational nodes.

RESULTS: Here, we present a scalable, distributed and efficient implementation of a pileup algorithm that is suitable for deploying in cloud computing environments. In particular, we implemented: (i) …


The Neurobiology Of Duration Of Untreated Psychosis: A Comprehensive Review, Anthony W Zoghbi, Jeffrey A Lieberman, Ragy R Girgis Jan 2023

The Neurobiology Of Duration Of Untreated Psychosis: A Comprehensive Review, Anthony W Zoghbi, Jeffrey A Lieberman, Ragy R Girgis

Faculty, Staff and Students Publications

Duration of untreated psychosis (DUP) is defined as the time from the onset of psychotic symptoms until the first treatment. Studies have shown that longer DUP is associated with poorer response rates to antipsychotic medications and impaired cognition, yet the neurobiologic correlates of DUP are poorly understood. Moreover, it has been hypothesized that untreated psychosis may be neurotoxic. Here, we conducted a comprehensive review of studies that have examined the neurobiology of DUP. Specifically, we included studies that evaluated DUP using a range of neurobiologic and imaging techniques and identified 83 articles that met inclusion and exclusion criteria. Overall, 27 …


Ageing And Rejuvenation Of Tissue Stem Cells And Their Niches, Anne Brunet, Margaret A Goodell, Thomas A Rando Jan 2023

Ageing And Rejuvenation Of Tissue Stem Cells And Their Niches, Anne Brunet, Margaret A Goodell, Thomas A Rando

Faculty, Staff and Students Publications

Most adult organs contain regenerative stem cells, often organized in specific niches. Stem cell function is critical for tissue homeostasis and repair upon injury, and it is dependent on interactions with the niche. During ageing, stem cells decline in their regenerative potential and ability to give rise to differentiated cells in the tissue, which is associated with a deterioration of tissue integrity and health. Ageing-associated changes in regenerative tissue regions include defects in maintenance of stem cell quiescence, differentiation ability and bias, clonal expansion and infiltration of immune cells in the niche. In this Review, we discuss cellular and molecular …