Open Access. Powered by Scholars. Published by Universities.®

Medical Specialties Commons™

Open Access. Powered by Scholars. Published by Universities.®

Discipline
Institution
Keyword
Publication Year
Publication
Publication Type
File Type

Articles 29071 - 29100 of 77227

Full-Text Articles in Medical Specialties

Dynamic Errors In Pulse Oximetry Preclude Use Of Correction Factor, Ashraf Fawzy, Valeria S M Valbuena, Christopher F Chesley, Tianshi David Wu, Theodore J Iwashyna Feb 2023

Dynamic Errors In Pulse Oximetry Preclude Use Of Correction Factor, Ashraf Fawzy, Valeria S M Valbuena, Christopher F Chesley, Tianshi David Wu, Theodore J Iwashyna

Faculty, Staff and Students Publications

No abstract provided.


Rapid Clinical Expansion And The Fate Of The Hospitalist Educator, Julia B Caton, Shannon K Martin, Marisha Burden, Zaven Sargsyan, Michelle Brooks, Daniel N Ricotta Feb 2023

Rapid Clinical Expansion And The Fate Of The Hospitalist Educator, Julia B Caton, Shannon K Martin, Marisha Burden, Zaven Sargsyan, Michelle Brooks, Daniel N Ricotta

Faculty, Staff and Students Publications

No abstract provided.


Genetic Variants In Arhgef6 Cause Congenital Anomalies Of The Kidneys And Urinary Tract In Humans, Mice, And Frogs, Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M Connaughton, Steve Seltzsam, Nina Mann, Amar J Majmundar, Chen-Han W Wu, Ana C Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P Lifton, Karin M Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S Lienkamp, Mirjam M P Zegers, Friedhelm Hildebrandt Feb 2023

Genetic Variants In Arhgef6 Cause Congenital Anomalies Of The Kidneys And Urinary Tract In Humans, Mice, And Frogs, Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M Connaughton, Steve Seltzsam, Nina Mann, Amar J Majmundar, Chen-Han W Wu, Ana C Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P Lifton, Karin M Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S Lienkamp, Mirjam M P Zegers, Friedhelm Hildebrandt

Faculty, Staff and Students Publications

Background: About 40 disease genes have been described to date for isolated CAKUT, the most common cause of childhood CKD. However, these genes account for only 20% of cases. ARHGEF6, a guanine nucleotide exchange factor that is implicated in biologic processes such as cell migration and focal adhesion, acts downstream of integrin-linked kinase (ILK) and parvin proteins. A genetic variant of ILK that causes murine renal agenesis abrogates the interaction of ILK with a murine focal adhesion protein encoded by Parva , leading to CAKUT in mice with this variant.

Methods: To identify novel genes that, when mutated, result in …


Lumasiran For Advanced Primary Hyperoxaluria Type 1: Phase 3 Illuminate-C Trial, Mini Michael, Jaap W Groothoff, Hadas Shasha-Lavsky, John C Lieske, Yaacov Frishberg, Eva Simkova, Anne-Laure Sellier-Leclerc, Arnaud Devresse, Fitsum Guebre-Egziabher, Sevcan A Bakkaloglu, Chebl Mourani, Rola Saqan, Richard Singer, Richard Willey, Bahru Habtemariam, John M Gansner, Ishir Bhan, Tracy Mcgregor, Daniella Magen Feb 2023

Lumasiran For Advanced Primary Hyperoxaluria Type 1: Phase 3 Illuminate-C Trial, Mini Michael, Jaap W Groothoff, Hadas Shasha-Lavsky, John C Lieske, Yaacov Frishberg, Eva Simkova, Anne-Laure Sellier-Leclerc, Arnaud Devresse, Fitsum Guebre-Egziabher, Sevcan A Bakkaloglu, Chebl Mourani, Rola Saqan, Richard Singer, Richard Willey, Bahru Habtemariam, John M Gansner, Ishir Bhan, Tracy Mcgregor, Daniella Magen

Faculty, Staff and Students Publications

Rationale & objective: Lumasiran reduces urinary and plasma oxalate (POx) in patients with primary hyperoxaluria type 1 (PH1) and relatively preserved kidney function. ILLUMINATE-C evaluates the efficacy, safety, pharmacokinetics, and pharmacodynamics of lumasiran in patients with PH1 and advanced kidney disease.

Study design: Phase 3, open-label, single-arm trial.

Setting & participants: Multinational study; enrolled patients with PH1 of all ages, estimated glomerular filtration rate ≤45 mL/min/1.73 m2 (if age ≥12 months) or increased serum creatinine level (if age < 12 months), and POx ≥20 μmol/L at screening, including patients with or without systemic oxalosis.

Intervention: Lumasiran administered subcutaneously; 3 monthly doses followed by monthly or quarterly weight-based dosing.

Outcome: Primary end point: percent change in POx …


Functional And Clinical Studies Reveal Pathophysiological Complexity Of Clcn4-Related Neurodevelopmental Condition, Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S Alkuraya, Aziza Chedrawi, Mais O Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B Haack, Emma Clement, Amy Mctague, David Hunt, Sharron Townshend, Michelle Ward, Linda J Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe Mckenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M Bain, Tristan T Sands, Golder N Wilson, Erin J Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H Willemsen, Charlotte W Ockeloen, Rolph Pfundt, Sanne D Kroft, Michael Field, Francisco E R Laranjeira, Ana M Fortuna, Ana R Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D Weaver, Lynne M Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M Campeau, Maria Blazo, Emilia K Bijlsma, Jill A Rosenfeld, Christian Beetz, Zöe Powis, Kirsty Mcwalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S Mohammad, Ruth Armstrong, Vera M Kalscheuer Feb 2023

Functional And Clinical Studies Reveal Pathophysiological Complexity Of Clcn4-Related Neurodevelopmental Condition, Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S Alkuraya, Aziza Chedrawi, Mais O Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B Haack, Emma Clement, Amy Mctague, David Hunt, Sharron Townshend, Michelle Ward, Linda J Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe Mckenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M Bain, Tristan T Sands, Golder N Wilson, Erin J Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H Willemsen, Charlotte W Ockeloen, Rolph Pfundt, Sanne D Kroft, Michael Field, Francisco E R Laranjeira, Ana M Fortuna, Ana R Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D Weaver, Lynne M Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M Campeau, Maria Blazo, Emilia K Bijlsma, Jill A Rosenfeld, Christian Beetz, Zöe Powis, Kirsty Mcwalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S Mohammad, Ruth Armstrong, Vera M Kalscheuer

Faculty, Staff and Students Publications

Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on …


Differential Strain-Dependent Ovarian And Metabolic Responses In A Mouse Model Of Pcos, April K. Binder, Danielle L. Peecher, Amanda J. Qvigstad, Silvia D. Gutierrez, Jennifer Magaña, David B. Banks, Kenneth S. Korach Jan 2023

Differential Strain-Dependent Ovarian And Metabolic Responses In A Mouse Model Of Pcos, April K. Binder, Danielle L. Peecher, Amanda J. Qvigstad, Silvia D. Gutierrez, Jennifer Magaña, David B. Banks, Kenneth S. Korach

Biology Faculty Scholarship

Several mouse models have been developed to study polycystic ovarian syndrome (PCOS), a leading cause of infertility in women. Treatment of mice with dihydrotestosterone (DHT) for 90-days causes ovarian and metabolic phenotypes similar to women with PCOS. We used this 90-day DHT treatment paradigm to investigate the variable incidence and heterogeneity in two inbred mouse strains, NOD/ShiLtJ and 129S1/SvlmJ. NOD mice naturally develop type 1 diabetes, and recent meta-analysis found increased androgen excess and PCOS in women with type 1 diabetes. 129S1 mice are commonly used in genetic manipulations. Both NOD and 129S1 DHT treated mice had early vaginal opening, …


Ob-Gyn Resident Education Of Postpartum Care: A Needs Assessment, Melanie Hotz, Ms, Md, Cheryl Godcharles, Md, Ibclc, Julia Switzer, Md Jan 2023

Ob-Gyn Resident Education Of Postpartum Care: A Needs Assessment, Melanie Hotz, Ms, Md, Cheryl Godcharles, Md, Ibclc, Julia Switzer, Md

Department of Obstetrics and Gynecology Posters

Background

  • Increased recognition of the importance of the ‘fourth trimester’ and the pressing need to reduce maternal morbidity and mortality, has led to a renewed focus on postpartum care.
  • Advanced Milestones for The Care of the Postpartum Patient include ability to effectively counsel patients on antenatal, intrapartum and postpartum complications, collaboration with other members of the health care team in postpartum care and application of innovative approaches to the management of patients in the postpartum period.1
  • The CREOG Learning objectives include several specific learning objectives regarding the diagnosis, management and counseling about normal postpartum recovery and complications of the …


A 36-Year-Old Woman With Acute Liver Failure Following Acetaminophen Overdose, Raised Inr Of 8.7, And Normal Blood Viscosity Measured By Rotational Thromboelastometry (Rotem), Uzung Yoon, Manny Lai, Tho Nguyen, Elia S. Elia Jan 2023

A 36-Year-Old Woman With Acute Liver Failure Following Acetaminophen Overdose, Raised Inr Of 8.7, And Normal Blood Viscosity Measured By Rotational Thromboelastometry (Rotem), Uzung Yoon, Manny Lai, Tho Nguyen, Elia S. Elia

Department of Anesthesiology Faculty Papers

BACKGROUND Fulminant hepatic failure (FHF) is commonly associated with elevated prothrombin time (PT) and international normalized ratio (INR). There is a commensurate decline in pro- and anti-hemostatic factors, and hemostatic function is rebalanced, not reflected in INR. This report presents the case of a 36-year-old woman with FHF following acetaminophen overdose, an increased INR above 8.7, and normal blood viscosity measured by rotational thromboelastometry (ROTEM). CASE REPORT A 36-year-old woman presented with FHF following an acetaminophen overdose. On arrival, she was lethargic but arousable and followed commands. Her King's College Criteria for acetaminophen toxicity was 2 and her MELD score …


Geriatric Emergency Medicine Fellowship Journal Club: Syncope Risk Stratification & Geriatric-Specific Clinical Decision Rules, Kyle R. Burton Md Mpp, Phillip Magidson Jan 2023

Geriatric Emergency Medicine Fellowship Journal Club: Syncope Risk Stratification & Geriatric-Specific Clinical Decision Rules, Kyle R. Burton Md Mpp, Phillip Magidson

Journal of Geriatric Emergency Medicine

No abstract provided.


Cognitive Assessment Of Health-Care Workers Exposed To Ionizing Radiation And The Assessment Of Radiation Safety Awareness In Different Radiation Oncology Hospitals In Egypt, Basma M. Saleh Jan 2023

Cognitive Assessment Of Health-Care Workers Exposed To Ionizing Radiation And The Assessment Of Radiation Safety Awareness In Different Radiation Oncology Hospitals In Egypt, Basma M. Saleh

Theses and Dissertations

The increase in cancer cases and subsequent increase in chemotherapy and radiotherapy sparked worries over hospital workers' health and safety. There is a global trend towards routine assessment of awareness, safety measures, and radiation protection culture among healthcare workers. There is also a trend towards monitoring the various associations between radiation exposure and different health outcomes. In low- and middle-income countries, the use of advanced techniques and biomarker tests to track the health status of the workers is hard to achieve. This is due to the scarce resources and economic instabilities and that is why using a survey as a …


Influence Of Aerobic Exercise On Appetite-Regulating Hormones, Ghrelin-O-Acyltransferase And Perceived Hunger In Normal Weight And Obese Adults, Michael Bruneau, Richard Wood, Susan Sotir, Samuel Headley, Elizabeth O'Neil, Juan Muñiz, May Cheung, Marissa Pontarelli Jan 2023

Influence Of Aerobic Exercise On Appetite-Regulating Hormones, Ghrelin-O-Acyltransferase And Perceived Hunger In Normal Weight And Obese Adults, Michael Bruneau, Richard Wood, Susan Sotir, Samuel Headley, Elizabeth O'Neil, Juan Muñiz, May Cheung, Marissa Pontarelli

Department of Medical Oncology Faculty Papers

Background: Obesity is a major public health issue in the United States (U.S.), affecting an estimated 78 million US adults. Aerobic exercise (AE) is recommended by the American College of Sports Medicine to prevent and treat obesity, yet the effects of AE on circulating hunger hormones including acylated ghrelin and its biological catalyst, ghrelin o-acyltransferase (GOAT) are less known. Objectives: We investigated the effects of AE on circulating concentrations of appetite regulating hormones and GOAT in a pilot sample of adults classified with normal weight (NW) and obese (OB) body weight status. Methods: Using a quasi-experimental design, nine adults with …


Gene Expression Profiling Of Circulating Tumor Cells Captured By Microcavity Array Is Superior To Enumeration In Demonstrating Therapy Response In Patients With Newly Diagnosed Advanced And Locally Advanced Non-Small Cell Lung Cancer, Evan N Cohen, Gitanjali Jayachandran, Hui Gao, Phillip Peabody, Heather B Mcbride, Franklin D Alvarez, Pablo Lopez Bravo, Wei Qiao, Suyu Liu, Luyang Yao, Steven H Lin, James M Reuben Jan 2023

Gene Expression Profiling Of Circulating Tumor Cells Captured By Microcavity Array Is Superior To Enumeration In Demonstrating Therapy Response In Patients With Newly Diagnosed Advanced And Locally Advanced Non-Small Cell Lung Cancer, Evan N Cohen, Gitanjali Jayachandran, Hui Gao, Phillip Peabody, Heather B Mcbride, Franklin D Alvarez, Pablo Lopez Bravo, Wei Qiao, Suyu Liu, Luyang Yao, Steven H Lin, James M Reuben

Faculty, Staff and Student Publications

Background: Circulating tumor cells (CTCs) are a promising non-invasive tool for monitoring therapy response. The only Food and Drug Administration (FDA)-approved test is limited to enumeration of epithelial CTC without further characterization and is not approved for the management of non-small cell lung cancer (NSCLC). Here we use a MicroCavity Array (MCA) system to capture CTC agnostic of epithelial markers for further molecular testing in NSCLC.

Methods: CTCs were enumerated by fluorescent microscopy as longitudinal sampling throughout disease management from 213 NSCLC patients. CTC-enriched samples from a subset of 127 patients were interrogated for gene expression by reverse transcription polymerase …


Association Between Covid-19 And Postoperative Neurological Complications And Antipsychotic Medication Use After Cancer Surgery: A Retrospective Study, Juan P Cata, Jian Hu, Lei Feng, Caroline Chung, Scott E Woodman, Larissa A Meyer Jan 2023

Association Between Covid-19 And Postoperative Neurological Complications And Antipsychotic Medication Use After Cancer Surgery: A Retrospective Study, Juan P Cata, Jian Hu, Lei Feng, Caroline Chung, Scott E Woodman, Larissa A Meyer

Faculty, Staff and Student Publications

Introduction: Millions of Americans infected with the severe acute respiratory syndrome-associated coronavirus-19 (COVID-19) need oncologic surgery. Patients with acute or resolved COVID-19 illness complain of neuropsychiatric symptoms. How surgery affects postoperative neuropsychiatric outcomes such as delirium is unknown. We hypothesize that patients with a history of COVID-19 could have an exaggerated risk of developing postoperative delirium after undergoing major elective oncologic surgery.

Methods: We conducted a retrospective study to determine the association between COVID-19 status and antipsychotic drugs during postsurgical hospitalization as a surrogate of delirium. Secondary outcomes included 30 days of postoperative complications, length of stay, and mortality. Patients …


Lnc-Uc147 Is Associated With Disease Stage Of Liver, Gastric, And Renal Cancer, Ana Carolina Rodrigues, Erika Pereira Zambalde, Daniel De Lima Bellan, Edvaldo Da Silva Trindade, Enilze Maria De Souza Fonseca Ribeiro, George Calin, Daniela Fiori Gradia, Jaqueline Carvalho De Oliveira Jan 2023

Lnc-Uc147 Is Associated With Disease Stage Of Liver, Gastric, And Renal Cancer, Ana Carolina Rodrigues, Erika Pereira Zambalde, Daniel De Lima Bellan, Edvaldo Da Silva Trindade, Enilze Maria De Souza Fonseca Ribeiro, George Calin, Daniela Fiori Gradia, Jaqueline Carvalho De Oliveira

Faculty, Staff and Student Publications

Lnc-uc.147, a long non-coding RNA derived from a transcribed ultraconserved region (T-UCR), was previously evidenced in breast cancer. However, the role of this region in other tumor types was not previously investigated. The present study aimed to investigate lnc-uc.147 in different types of cancer, as well as to suggest lnc-uc.147 functional and regulation aspects. From solid tumor datasets analysis of The Cancer Genome Atlas (TCGA), deregulated lnc-uc.147 expression was associated with the histologic grade of hepatocellular carcinoma, and with the tumor stage of clear cell renal and gastric adenocarcinoma. Considering the epidemiologic relevance of liver cancer, silencing lnc-uc.147 reduced the …


A Delicate Balance Between Antibody Evasion And Ace2 Affinity For Omicron Ba275, Jiandong Huo, Aiste Dijokaite-Guraliuc, Chang Liu, Daming Zhou, Helen M Ginn, Raksha Das, Piyada Supasa, Muneeswaran Selvaraj, Rungtiwa Nutalai, Aekkachai Tuekprakhon, Helen M E Duyvesteyn, Alexander J Mentzer, Donal Skelly, Thomas G Ritter, Ali Amini, Sagida Bibi, Sandra Adele, Sile Ann Johnson, Neil G Paterson, Mark A Williams, David R Hall, Megan Plowright, Thomas A H Newman, Hailey Hornsby, Thushan I De Silva, Nigel Temperton, Paul Klenerman, Eleanor Barnes, Susanna J Dunachie, Andrew J Pollard, Teresa Lambe, Philip Goulder, Optic Consortium, Isaric4c Consortium, Elizabeth E Fry, Juthathip Mongkolsapaya, Jingshan Ren, David I Stuart, Gavin R Screaton Jan 2023

A Delicate Balance Between Antibody Evasion And Ace2 Affinity For Omicron Ba275, Jiandong Huo, Aiste Dijokaite-Guraliuc, Chang Liu, Daming Zhou, Helen M Ginn, Raksha Das, Piyada Supasa, Muneeswaran Selvaraj, Rungtiwa Nutalai, Aekkachai Tuekprakhon, Helen M E Duyvesteyn, Alexander J Mentzer, Donal Skelly, Thomas G Ritter, Ali Amini, Sagida Bibi, Sandra Adele, Sile Ann Johnson, Neil G Paterson, Mark A Williams, David R Hall, Megan Plowright, Thomas A H Newman, Hailey Hornsby, Thushan I De Silva, Nigel Temperton, Paul Klenerman, Eleanor Barnes, Susanna J Dunachie, Andrew J Pollard, Teresa Lambe, Philip Goulder, Optic Consortium, Isaric4c Consortium, Elizabeth E Fry, Juthathip Mongkolsapaya, Jingshan Ren, David I Stuart, Gavin R Screaton

Faculty, Staff and Student Publications

Variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have caused successive global waves of infection. These variants, with multiple mutations in the spike protein, are thought to facilitate escape from natural and vaccine-induced immunity and often increase in affinity for ACE2. The latest variant to cause concern is BA.2.75, identified in India where it is now the dominant strain, with evidence of wider dissemination. BA.2.75 is derived from BA.2 and contains four additional mutations in the receptor-binding domain (RBD). Here, we perform an antigenic and biophysical characterization of BA.2.75, revealing an interesting balance between humoral evasion and ACE2 receptor …


The Potential Of Brain Stimulation Techniques For Substance Use Disorder Treatment, Antonio F Corno, Taylor S Koerner, Jorge D Salazar Jan 2023

The Potential Of Brain Stimulation Techniques For Substance Use Disorder Treatment, Antonio F Corno, Taylor S Koerner, Jorge D Salazar

Faculty, Staff and Student Publications

No abstract provided.


Nonhuman Primate Genetic Models For The Study Of Rare Diseases, Eric J Vallender, Charlotte E Hotchkiss, Anne D Lewis, Jeffrey Rogers, Joshua A Stern, Samuel M Peterson, Betsy Ferguson, Ken Sayers Jan 2023

Nonhuman Primate Genetic Models For The Study Of Rare Diseases, Eric J Vallender, Charlotte E Hotchkiss, Anne D Lewis, Jeffrey Rogers, Joshua A Stern, Samuel M Peterson, Betsy Ferguson, Ken Sayers

Faculty, Staff and Students Publications

Pre-clinical research and development relies heavily upon translationally valid models of disease. A major difficulty in understanding the biology of, and developing treatments for, rare disease is the lack of animal models. It is important that these models not only recapitulate the presentation of the disease in humans, but also that they share functionally equivalent underlying genetic causes. Nonhuman primates share physiological, anatomical, and behavioral similarities with humans resulting from close evolutionary relationships and high genetic homology. As the post-genomic era develops and next generation sequencing allows for the resequencing and screening of large populations of research animals, naturally occurring …


Mutations In The Transcriptional Regulator Mecp2 Severely Impact Key Cellular And Molecular Signatures Of Human Astrocytes During Maturation, Jialin Sun, Sivan Osenberg, Austin Irwin, Li-Hua Ma, Nigel Lee, Yangfei Xiang, Feng Li, Ying-Wooi Wan, In-Hyun Park, Mirjana Maletic-Savatic, Nurit Ballas Jan 2023

Mutations In The Transcriptional Regulator Mecp2 Severely Impact Key Cellular And Molecular Signatures Of Human Astrocytes During Maturation, Jialin Sun, Sivan Osenberg, Austin Irwin, Li-Hua Ma, Nigel Lee, Yangfei Xiang, Feng Li, Ying-Wooi Wan, In-Hyun Park, Mirjana Maletic-Savatic, Nurit Ballas

Faculty, Staff and Students Publications

Mutations in the MECP2 gene underlie a spectrum of neurodevelopmental disorders, most commonly Rett syndrome (RTT). We ask whether MECP2 mutations interfere with human astrocyte developmental maturation, thereby affecting their ability to support neurons. Using human-based models, we show that RTT-causing MECP2 mutations greatly impact the key role of astrocytes in regulating overall brain bioenergetics and that these metabolic aberrations are likely mediated by dysfunctional mitochondria. During post-natal maturation, astrocytes rely on neurons to induce their complex stellate morphology and transcriptional changes. While MECP2 mutations cause cell-intrinsic aberrations in the astrocyte transcriptional landscape, surprisingly, they do not affect the neuron-induced …


What Did We Learn About Vads In 2022?, Maya Guglin Jan 2023

What Did We Learn About Vads In 2022?, Maya Guglin

The VAD Journal

This is our 9th annual literature review on mechanical circulatory support devices. Our previous reports were well received by the readers.

In this paper, we summarized the most interesting and important, from our standpoint, publications from 2022. There may be some slight overlap with the end of 2021 because some papers were published online first, and the year of the publication changed when they became available in print.

For the sixth time, we wrote a section on extracorporeal membrane oxygenation (ECMO) which primarily addresses new developments in veno-arterial ECMO.

Readers who wish to supplement this review, argue with the …


International Multicenter Study Comparing Covid-19 In Patients With Cancer To Patients Without Cancer: Impact Of Risk Factors And Treatment Modalities On Survivorship., Issam I Raad, Ray Hachem, Nigo Masayuki, Tarcila Datoguia, Hiba Dagher, Ying Jiang, Vivek Subbiah, Bilal Siddiqui, Arnaud Bayle, Robert Somer, Ana Fernández Cruz, Edward Gorak, Arvinder Bhinder, Nobuyoshi Mori, Nelson Hamerschlak, Samuel Shelanski, Tomislav Dragovich, Yee Elise Vong Kiat, Suha Fakhreddine, Abi Hanna Pierre, Roy F Chemaly, Victor Mulanovich, Javier Adachi, Jovan Borjan, Fareed Khawaja, Bruno Granwehr, Teny John, Eduardo Yepez Yepez, Harrys A Torres, Natraj Reddy Ammakkanavar, Marcel Yibirin, Cielito C Reyes-Gibby, Mala Pande, Noman Ali, Raniv Dawey Rojo, Shahnoor M Ali, Rita E Deeba, Patrick Chaftari, Takahiro Matsuo, Kazuhiro Ishikawa, Ryo Hasegawa, Ramón Aguado-Noya, Alvaro Garcia García, Cristina Traseira Puchol, Dong Gun Lee, Monica Slavin, Benjamin Teh, Cesar A Arias, Dimitrios P Kontoyiannis, Alexandre E Malek, Anne-Marie Chaftari Jan 2023

International Multicenter Study Comparing Covid-19 In Patients With Cancer To Patients Without Cancer: Impact Of Risk Factors And Treatment Modalities On Survivorship., Issam I Raad, Ray Hachem, Nigo Masayuki, Tarcila Datoguia, Hiba Dagher, Ying Jiang, Vivek Subbiah, Bilal Siddiqui, Arnaud Bayle, Robert Somer, Ana Fernández Cruz, Edward Gorak, Arvinder Bhinder, Nobuyoshi Mori, Nelson Hamerschlak, Samuel Shelanski, Tomislav Dragovich, Yee Elise Vong Kiat, Suha Fakhreddine, Abi Hanna Pierre, Roy F Chemaly, Victor Mulanovich, Javier Adachi, Jovan Borjan, Fareed Khawaja, Bruno Granwehr, Teny John, Eduardo Yepez Yepez, Harrys A Torres, Natraj Reddy Ammakkanavar, Marcel Yibirin, Cielito C Reyes-Gibby, Mala Pande, Noman Ali, Raniv Dawey Rojo, Shahnoor M Ali, Rita E Deeba, Patrick Chaftari, Takahiro Matsuo, Kazuhiro Ishikawa, Ryo Hasegawa, Ramón Aguado-Noya, Alvaro Garcia García, Cristina Traseira Puchol, Dong Gun Lee, Monica Slavin, Benjamin Teh, Cesar A Arias, Dimitrios P Kontoyiannis, Alexandre E Malek, Anne-Marie Chaftari

Oncology Articles

BACKGROUND: In this international multicenter study, we aimed to determine the independent risk factors associated with increased 30 day mortality and the impact of cancer and novel treatment modalities in a large group of patients with and without cancer with COVID-19 from multiple countries.

METHODS: We retrospectively collected de-identified data on a cohort of patients with and without cancer diagnosed with COVID-19 between January and November 2020 from 16 international centers.

RESULTS: We analyzed 3966 COVID-19 confirmed patients, 1115 with cancer and 2851 without cancer patients. Patients with cancer were more likely to be pancytopenic and have a smoking history, …


Monoclonal Antibodies, Gene Silencing And Gene Editing (Crispr) Therapies For The Treatment Of Hyperlipidemia-The Future Is Here, Melody Hermel, Madison Lieberman, Leandro Slipczuk, Jamal S. Rana, Salim S. Virani Jan 2023

Monoclonal Antibodies, Gene Silencing And Gene Editing (Crispr) Therapies For The Treatment Of Hyperlipidemia-The Future Is Here, Melody Hermel, Madison Lieberman, Leandro Slipczuk, Jamal S. Rana, Salim S. Virani

Office of the Provost

Hyperlipidemia is a significant risk factor for atherosclerotic cardiovascular disease. Undertreatment of elevated lipids persists despite existing therapies. Here, we provide an update on monoclonal antibodies, gene silencing therapies, and gene editing techniques for the management of hyperlipidemia. The current era of cutting-edge pharmaceuticals targeting low density lipoprotein cholesterol, PCSK9, lipoprotein (a), angiopoietin-like 3, and apolipoprotein C3 are reviewed. We outline what is known, studies in progress, and futuristic goals. This review of available and upcoming biotechnological lipid therapies is presented for clinicians managing patients with familial hyperlipidemia, statin intolerance, hypertriglyceridemia, or elevated lipoprotein (a) levels.


Unrecognized Functional Dyspepsia Among Those With Refractory Chronic Constipation: Analysis Of A Tertiary Cohort, Taylor Boyd, Mary Paz, Imama Ahmad, Fatima Rao, Ahmad Samad, Isabelle Garcia-Fischer, Casey Silvernale, Helen Burton Murray, Kyle Staller Jan 2023

Unrecognized Functional Dyspepsia Among Those With Refractory Chronic Constipation: Analysis Of A Tertiary Cohort, Taylor Boyd, Mary Paz, Imama Ahmad, Fatima Rao, Ahmad Samad, Isabelle Garcia-Fischer, Casey Silvernale, Helen Burton Murray, Kyle Staller

Student Papers, Posters & Projects

BACKGROUND AND AIMS: Patients with functional constipation (FC) are frequently dissatisfied with current treatment options which may be related to persistent, unaddressed symptoms. We hypothesized that refractory FC may actually represent functional dyspepsia (FD) overlap. Among adults presenting with refractory FC, we sought to (1) identify the prevalence of concurrent FD and (2) identify the symptoms and presentations most frequently associated with concurrent FD and FC.

METHODS: We assembled a retrospective cohort of 308 patients sequentially presenting to a tertiary neurogastroenterology clinic for evaluation of refractory FC, defined as having failed first-line therapy. Using Rome IV criteria, trained raters identified …


Subacute Cutaneous Lupus Erythematosus After Mrna-Based Sars-Cov-2 Vaccination, Sarah Rimmer, Long Ly, Erin Boh Jan 2023

Subacute Cutaneous Lupus Erythematosus After Mrna-Based Sars-Cov-2 Vaccination, Sarah Rimmer, Long Ly, Erin Boh

School of Medicine Faculty Publications

No abstract provided.


Blastoid B-Cell Neoplasms: Diagnostic Challenges And Solutions, Lianqun Qiu, Sa A Wang, Guilin Tang, Wei Wang, Pei Lin, Jie Xu, C Cameron Yin, Mahsa Khanlari, L Jeffrey Medeiros, Shaoying Li Jan 2023

Blastoid B-Cell Neoplasms: Diagnostic Challenges And Solutions, Lianqun Qiu, Sa A Wang, Guilin Tang, Wei Wang, Pei Lin, Jie Xu, C Cameron Yin, Mahsa Khanlari, L Jeffrey Medeiros, Shaoying Li

Faculty, Staff and Student Publications

Blastoid B-cell neoplasms mainly include B-lymphoblastic leukemia/lymphoma (B-ALL), blastoid mantle cell lymphoma, and high-grade B-cell lymphoma with blastoid morphologic features (blastoid HGBL). Distinguishing blastoid HGBL from B-ALL can be challenging and we previously developed six-point flow cytometry-focused and three-point immunohistochemistry-focused scoring systems to aid in differential diagnosis. However, the six-point scoring system was derived from bone marrow cases and occasional cases may have a misleading score using either system. In this study, we assessed 121 cases of blastoid-HGBL (37 BM and 84 extramedullary) to validate the six-point scoring system in all tissue types and to further compare the two scoring …


Extracellular Matrix (Ecm) And Fibrosis In Adipose Tissue: Overview And Perspectives, Kai Sun, Xin Li, Philipp E Scherer Jan 2023

Extracellular Matrix (Ecm) And Fibrosis In Adipose Tissue: Overview And Perspectives, Kai Sun, Xin Li, Philipp E Scherer

Faculty, Staff and Student Publications

Fibrosis in adipose tissue is a major driver of obesity-related metabolic dysregulation. It is characterized by an overaccumulation of extracellular matrix (ECM) during unhealthy expansion of adipose tissue in response to over nutrition. In obese adipose-depots, hypoxia stimulates multiple pro-fibrotic signaling pathways in different cell populations, thereby inducing the overproduction of the ECM components, including collagens, noncollagenous proteins, and additional enzymatic components of ECM synthesis. As a consequence, local fibrosis develops. The result of fibrosis-induced mechanical stress not only triggers cell necrosis and inflammation locally in adipose tissue but also leads to system-wide lipotoxicity and insulin resistance. A better understanding …


Extradural Primary Malignant Spinal Tumors In A Population Younger Than 25 Years: An Ambispective International Multicenter Study On Onco-Surgical Outcomes, Alexander C Disch, Stefano Boriani, Alessandro Luzzati, Laurence D Rhines, Charles G Fisher, Aron Lazary, Ziya L Gokaslan, Dean Chou, Michelle J Clarke, Michael G Fehlings, Klaus-Dieter Schaser, Nicole M Germscheid, Jeremy J Reynolds, The Ao Spine Knowledge Forum Tumor Jan 2023

Extradural Primary Malignant Spinal Tumors In A Population Younger Than 25 Years: An Ambispective International Multicenter Study On Onco-Surgical Outcomes, Alexander C Disch, Stefano Boriani, Alessandro Luzzati, Laurence D Rhines, Charles G Fisher, Aron Lazary, Ziya L Gokaslan, Dean Chou, Michelle J Clarke, Michael G Fehlings, Klaus-Dieter Schaser, Nicole M Germscheid, Jeremy J Reynolds, The Ao Spine Knowledge Forum Tumor

Faculty, Staff and Student Publications

Extradural malignant primary spinal tumors are rare and outcome data, especially for younger patients, is limited. In a worldwide (11 centers) study (Predictors of Mortality and Morbidity in the Surgical Management of Primary Tumors of the Spine study; ClinicalTrials.gov Identifier NCT01643174) by the AO Spine Knowledge Forum Tumor, patients surgically treated for primary tumors of the spine between 1992 and 2012, were retrospectively analyzed from a prospective database of their medical history. Medical history, tumor characteristics, diagnostics, treatments, cross-sectional survival, and local recurrences were analyzed. Sixty-eight cases (32 f; 36 m), at an average age of 18.6 ± 4.7 years …


Myelin Lipid Metabolism And Its Role In Myelination And Myelin Maintenance, Joseph A Barnes-Vélez, Fatma Betul Aksoy Yasar, Jian Hu Jan 2023

Myelin Lipid Metabolism And Its Role In Myelination And Myelin Maintenance, Joseph A Barnes-Vélez, Fatma Betul Aksoy Yasar, Jian Hu

Faculty, Staff and Student Publications

Myelin is a specialized cell membrane indispensable for rapid nerve conduction. The high abundance of membrane lipids is one of myelin's salient features that contribute to its unique role as an insulator that electrically isolates nerve fibers across their myelinated surface. The most abundant lipids in myelin include cholesterol, glycosphingolipids, and plasmalogens, each playing critical roles in myelin development as well as function. This review serves to summarize the role of lipid metabolism in myelination and myelin maintenance, as well as the molecular determinants of myelin lipid homeostasis, with an emphasis on findings from genetic models. In addition, the implications …


The Implementation Of A Required Book Club For Medical Students And Faculty, David B. Ney, Nethra Ankam, Anita Wilson, John Spandorfer Jan 2023

The Implementation Of A Required Book Club For Medical Students And Faculty, David B. Ney, Nethra Ankam, Anita Wilson, John Spandorfer

Department of Psychiatry and Human Behavior Faculty Papers

More medical schools are incorporating wellness activities and the medical humanities into their curriculum. Finding implementable programming that is feasible and enjoyable is challenging. Both student participants and faculty who might facilitate programs are busy with clinical and educational responsibilities. Book club discussions in general are an activity that bring people together and expose groups to literature. In medical education, informal books clubs have been shown to increase camaraderie and expose participants to topics in medicine that they may not have encountered without the structure of the group assignment. At one large private urban medical school, all fourth year medical …


Minimally Invasive Surgery Using A Shannon Burr For The Treatment Of Hallux Valgus Deformity: A Systematic Review, Tyler Gonzalez, Rodrigo Encinas, William Johns, J Benjamin Jackson Jan 2023

Minimally Invasive Surgery Using A Shannon Burr For The Treatment Of Hallux Valgus Deformity: A Systematic Review, Tyler Gonzalez, Rodrigo Encinas, William Johns, J Benjamin Jackson

Department of Orthopaedic Surgery Faculty Papers

BACKGROUND: Recently there has been an increase in minimally invasive surgery (MIS) for the correction of hallux valgus deformity. This systematic review aims to evaluate and present the current literature on MIS hallux valgus correction in studies reporting the use of the Shannon burr with distal metatarsal osteotomies to help establish evidence-based guidelines for surgeons using this technique.

METHODS: Two independent authors performed a systematic literature search using the following databases: PubMed, Embase, and the Cochrane library. The Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) protocol and the Cochrane Handbook guidelines were followed. All studies included were published …


Frequency Of Von Willebrand Disease And Its Types: Data From A Tertiary Care Hospital Of Karachi, Pakistan, Jyoti Mohan Lal, Anila Rashid, Natasha Ali Jan 2023

Frequency Of Von Willebrand Disease And Its Types: Data From A Tertiary Care Hospital Of Karachi, Pakistan, Jyoti Mohan Lal, Anila Rashid, Natasha Ali

Department of Pathology and Laboratory Medicine

Introduction: von Willebrand disease is the most common inherited bleeding disorder. It is classified into 3 main types, type I and III are quantitative defects whereas type II is qualitative defect which is further sub-classified in to II-A, II-B, II-M, II-N. The aim of the present study is to see frequency and types of von Willebrand disease in a tertiary care hospital of Karachi, Pakistan.
Materials and methods: This retrospective cross-sectional study was conducted in the section of Hematology and Transfusion Medicine, Department of Pathology and Laboratory Medicine, the Aga Khan University hospital, Karachi, from May 2020 to April 2021 …