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

Medical Specialties Commons™

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

2024

Discipline
Institution
Keyword
Publication
Publication Type
File Type

Articles 5221 - 5250 of 9452

Full-Text Articles in Medical Specialties

Altered Myocardial Lipid Regulation In Junctophilin-2-Associated Familial Cardiomyopathies, Satadru K Lahiri, Feng Jin, Yue Zhou, Ann P Quick, Carlos F Kramm, Meng C Wang, Xander Ht Wehrens May 2024

Altered Myocardial Lipid Regulation In Junctophilin-2-Associated Familial Cardiomyopathies, Satadru K Lahiri, Feng Jin, Yue Zhou, Ann P Quick, Carlos F Kramm, Meng C Wang, Xander Ht Wehrens

Faculty, Staff and Students Publications

Myocardial lipid metabolism is critical to normal heart function, whereas altered lipid regulation has been linked to cardiac diseases including cardiomyopathies. Genetic variants in the JPH2 gene can cause hypertrophic cardiomyopathy (HCM) and, in some cases, dilated cardiomyopathy (DCM). In this study, we tested the hypothesis that JPH2 variants identified in patients with HCM and DCM, respectively, cause distinct alterations in myocardial lipid profiles. Echocardiography revealed clinically significant cardiac dysfunction in both knock-in mouse models of cardiomyopathy. Unbiased myocardial lipidomic analysis demonstrated significantly reduced levels of total unsaturated fatty acids, ceramides, and various phospholipids in both mice with HCM and …


Multimodal Neurologic Monitoring In Patients Undergoing Extracorporeal Membrane Oxygenation, Khwaja Siddiqui, Muhammad U Hafeez, Ali Ahmad, Syed O Kazmi, Subhasis Chatterjee, Eric Bershad, Mohammad Hirzallah, Chethan Rao, Rahul Damani May 2024

Multimodal Neurologic Monitoring In Patients Undergoing Extracorporeal Membrane Oxygenation, Khwaja Siddiqui, Muhammad U Hafeez, Ali Ahmad, Syed O Kazmi, Subhasis Chatterjee, Eric Bershad, Mohammad Hirzallah, Chethan Rao, Rahul Damani

Faculty, Staff and Students Publications

Introduction Extracorporeal membrane oxygenation (ECMO) is associated with a high rate of neurologic complications. Multimodal neurologic monitoring (MNM) has the potential for early detection and intervention. We examined the safety and feasibility of noninvasive MNM during ECMO. We hypothesized that survivors and non-survivors would have meaningful differences in transcranial Doppler (TCD) sonography and electroencephalographic (EEG) characteristics, which we aimed to identify. We also investigated adverse neurologic events and attempted to identify differences in EEG and TCD characteristics among patients based on the type of ECMO and the occurrence of these events. Material and methods We performed an observational study on …


A Biophysically Constrained Brain Connectivity Model Based On Stimulation-Evoked Potentials, William Schmid, Isabel A Danstrom, Maria Crespo Echevarria, Joshua Adkinson, Layth Mattar, Garrett P Banks, Sameer A Sheth, Andrew J Watrous, Sarah R Heilbronner, Kelly R Bijanki, Alessandro Alabastri, Eleonora Bartoli May 2024

A Biophysically Constrained Brain Connectivity Model Based On Stimulation-Evoked Potentials, William Schmid, Isabel A Danstrom, Maria Crespo Echevarria, Joshua Adkinson, Layth Mattar, Garrett P Banks, Sameer A Sheth, Andrew J Watrous, Sarah R Heilbronner, Kelly R Bijanki, Alessandro Alabastri, Eleonora Bartoli

Faculty, Staff and Students Publications

BACKGROUND: Single-pulse electrical stimulation (SPES) is an established technique used to map functional effective connectivity networks in treatment-refractory epilepsy patients undergoing intracranial-electroencephalography monitoring. While the connectivity path between stimulation and recording sites has been explored through the integration of structural connectivity, there are substantial gaps, such that new modeling approaches may advance our understanding of connectivity derived from SPES studies.

NEW METHOD: Using intracranial electrophysiology data recorded from a single patient undergoing stereo-electroencephalography (sEEG) evaluation, we employ an automated detection method to identify early response components, C1, from pulse-evoked potentials (PEPs) induced by SPES. C1 components were utilized for a …


Clinical Outcomes After Acute Coronary Syndromes Or Revascularization Among People Living With Hiv: A Systematic Review And Meta-Analysis, Mohammed Haji, Michael Capilupi, Michael Kwok, Nouran Ibrahim, Gerald S Bloomfield, Christopher T Longenecker, Maria C Rodriguez-Barradas, Chester N Ashong, Eric Jutkowitz, Tracey H Taveira, Michelle Richard, Jennifer L Sullivan, James L Rudolph, Wen-Chih Wu, Sebhat Erqou May 2024

Clinical Outcomes After Acute Coronary Syndromes Or Revascularization Among People Living With Hiv: A Systematic Review And Meta-Analysis, Mohammed Haji, Michael Capilupi, Michael Kwok, Nouran Ibrahim, Gerald S Bloomfield, Christopher T Longenecker, Maria C Rodriguez-Barradas, Chester N Ashong, Eric Jutkowitz, Tracey H Taveira, Michelle Richard, Jennifer L Sullivan, James L Rudolph, Wen-Chih Wu, Sebhat Erqou

Faculty, Staff and Students Publications

IMPORTANCE: Clinical outcomes after acute coronary syndromes (ACS) or percutaneous coronary interventions (PCIs) in people living with HIV have not been characterized in sufficient detail, and extant data have not been synthesized adequately.

OBJECTIVE: To better characterize clinical outcomes and postdischarge treatment of patients living with HIV after ACS or PCIs compared with patients in an HIV-negative control group.

DATA SOURCES: Ovid MEDLINE, Embase, and Web of Science were searched for all available longitudinal studies of patients living with HIV after ACS or PCIs from inception until August 2023.

STUDY SELECTION: Included studies met the following criteria: patients living with …


Avoidant/Restrictive Food Intake Disorder Prevalence Is High In Children With Gastroparesis And Functional Dyspepsia, Isha Kaul, Helen Burton-Murray, Salma Musaad, Yiming Mirabile, Danita Czyzewski, Miranda A L Van Tilburg, Andrew C Sher, Bruno P Chumpitazi, Robert J Shulman May 2024

Avoidant/Restrictive Food Intake Disorder Prevalence Is High In Children With Gastroparesis And Functional Dyspepsia, Isha Kaul, Helen Burton-Murray, Salma Musaad, Yiming Mirabile, Danita Czyzewski, Miranda A L Van Tilburg, Andrew C Sher, Bruno P Chumpitazi, Robert J Shulman

Children’s Nutrition Research Center Staff Publications

BACKGROUND: Avoidant/restrictive food intake disorder (ARFID) prevalence in children with gastroparesis (Gp) and/or functional dyspepsia (FD) is unknown. We aimed to identify ARFID prevalence and trajectory over 2 months in children with Gp, FD, and healthy children (HC) using two screening questionnaires. We also explored the frequency of a positive ARFID screen between those with/without delayed gastric emptying or abnormal fundic accommodation.

METHODS: In this prospective longitudinal study conducted at an urban tertiary care hospital, patients ages 10-17 years with Gp or FD and age- and gender-matched HC completed two validated ARFID screening tools at baseline and 2-month follow-up: the …


Genome-Wide Analysis In Over 1 Million Individuals Of European Ancestry Yields Improved Polygenic Risk Scores For Blood Pressure Traits, Jacob M Keaton, Zoha Kamali, Tian Xie, Ahmad Vaez, Ariel Williams, Slavina B Goleva, Alireza Ani, Evangelos Evangelou, Jacklyn N Hellwege, Loic Yengo, William J Young, Matthew Traylor, Ayush Giri, Zhili Zheng, Jian Zeng, Daniel I Chasman, Andrew P Morris, Mark J Caulfield, Shih-Jen Hwang, Jaspal S Kooner, David Conen, John R Attia, Alanna C Morrison, Ruth J F Loos, Kati Kristiansson, Reinhold Schmidt, Andrew A Hicks, Peter P Pramstaller, Christopher P Nelson, Nilesh J Samani, Lorenz Risch, Ulf Gyllensten, Olle Melander, Harriette Riese, James F Wilson, Harry Campbell, Stephen S Rich, Bruce M Psaty, Yingchang Lu, Jerome I Rotter, Xiuqing Guo, Kenneth M Rice, Peter Vollenweider, Johan Sundström, Claudia Langenberg, Martin D Tobin, Vilmantas Giedraitis, Jian'an Luan, Jaakko Tuomilehto, Zoltan Kutalik, Samuli Ripatti, Veikko Salomaa, Giorgia Girotto, Stella Trompet, J Wouter Jukema, Pim Van Der Harst, Paul M Ridker, Franco Giulianini, Veronique Vitart, Anuj Goel, Hugh Watkins, Sarah E Harris, Ian J Deary, Peter J Van Der Most, Albertine J Oldehinkel, Bernard D Keavney, Caroline Hayward, Archie Campbell, Michael Boehnke, Laura J Scott, Thibaud Boutin, Chrysovalanto Mamasoula, Marjo-Riitta Järvelin, Annette Peters, Christian Gieger, Edward G Lakatta, Francesco Cucca, Jennie Hui, Paul Knekt, Stefan Enroth, Martin H De Borst, Ozren Polašek, Maria Pina Concas, Eulalia Catamo, Massimiliano Cocca, Ruifang Li-Gao, Edith Hofer, Helena Schmidt, Beatrice Spedicati, Melanie Waldenberger, David P Strachan, Maris Laan, Alexander Teumer, Marcus Dörr, Vilmundur Gudnason, James P Cook, Daniela Ruggiero, Ivana Kolcic, Eric Boerwinkle, Michela Traglia, Terho Lehtimäki, Olli T Raitakari, Andrew D Johnson, Christopher Newton-Cheh, Morris J Brown, Anna F Dominiczak, Peter J Sever, Neil Poulter, John C Chambers, Roberto Elosua, David Siscovick, Tõnu Esko, Andres Metspalu, Rona J Strawbridge, Markku Laakso, Anders Hamsten, Jouke-Jan Hottenga, Eco De Geus, Andrew D Morris, Colin N A Palmer, Ilja M Nolte, Yuri Milaneschi, Jonathan Marten, Alan Wright, Eleftheria Zeggini, Joanna M M Howson, Christopher J O'Donnell, Tim Spector, Mike A Nalls, Eleanor M Simonsick, Yongmei Liu, Cornelia M Van Duijn, Adam S Butterworth, John N Danesh, Cristina Menni, Nicholas J Wareham, Kay-Tee Khaw, Yan V Sun, Peter W F Wilson, Kelly Cho, Peter M Visscher, Joshua C Denny, Million Veteran Program, Lifelines Cohort Study, Charge Consortium, Icbp Consortium, Daniel Levy, Todd L Edwards, Patricia B Munroe, Harold Snieder, Helen R Warren May 2024

Genome-Wide Analysis In Over 1 Million Individuals Of European Ancestry Yields Improved Polygenic Risk Scores For Blood Pressure Traits, Jacob M Keaton, Zoha Kamali, Tian Xie, Ahmad Vaez, Ariel Williams, Slavina B Goleva, Alireza Ani, Evangelos Evangelou, Jacklyn N Hellwege, Loic Yengo, William J Young, Matthew Traylor, Ayush Giri, Zhili Zheng, Jian Zeng, Daniel I Chasman, Andrew P Morris, Mark J Caulfield, Shih-Jen Hwang, Jaspal S Kooner, David Conen, John R Attia, Alanna C Morrison, Ruth J F Loos, Kati Kristiansson, Reinhold Schmidt, Andrew A Hicks, Peter P Pramstaller, Christopher P Nelson, Nilesh J Samani, Lorenz Risch, Ulf Gyllensten, Olle Melander, Harriette Riese, James F Wilson, Harry Campbell, Stephen S Rich, Bruce M Psaty, Yingchang Lu, Jerome I Rotter, Xiuqing Guo, Kenneth M Rice, Peter Vollenweider, Johan Sundström, Claudia Langenberg, Martin D Tobin, Vilmantas Giedraitis, Jian'an Luan, Jaakko Tuomilehto, Zoltan Kutalik, Samuli Ripatti, Veikko Salomaa, Giorgia Girotto, Stella Trompet, J Wouter Jukema, Pim Van Der Harst, Paul M Ridker, Franco Giulianini, Veronique Vitart, Anuj Goel, Hugh Watkins, Sarah E Harris, Ian J Deary, Peter J Van Der Most, Albertine J Oldehinkel, Bernard D Keavney, Caroline Hayward, Archie Campbell, Michael Boehnke, Laura J Scott, Thibaud Boutin, Chrysovalanto Mamasoula, Marjo-Riitta Järvelin, Annette Peters, Christian Gieger, Edward G Lakatta, Francesco Cucca, Jennie Hui, Paul Knekt, Stefan Enroth, Martin H De Borst, Ozren Polašek, Maria Pina Concas, Eulalia Catamo, Massimiliano Cocca, Ruifang Li-Gao, Edith Hofer, Helena Schmidt, Beatrice Spedicati, Melanie Waldenberger, David P Strachan, Maris Laan, Alexander Teumer, Marcus Dörr, Vilmundur Gudnason, James P Cook, Daniela Ruggiero, Ivana Kolcic, Eric Boerwinkle, Michela Traglia, Terho Lehtimäki, Olli T Raitakari, Andrew D Johnson, Christopher Newton-Cheh, Morris J Brown, Anna F Dominiczak, Peter J Sever, Neil Poulter, John C Chambers, Roberto Elosua, David Siscovick, Tõnu Esko, Andres Metspalu, Rona J Strawbridge, Markku Laakso, Anders Hamsten, Jouke-Jan Hottenga, Eco De Geus, Andrew D Morris, Colin N A Palmer, Ilja M Nolte, Yuri Milaneschi, Jonathan Marten, Alan Wright, Eleftheria Zeggini, Joanna M M Howson, Christopher J O'Donnell, Tim Spector, Mike A Nalls, Eleanor M Simonsick, Yongmei Liu, Cornelia M Van Duijn, Adam S Butterworth, John N Danesh, Cristina Menni, Nicholas J Wareham, Kay-Tee Khaw, Yan V Sun, Peter W F Wilson, Kelly Cho, Peter M Visscher, Joshua C Denny, Million Veteran Program, Lifelines Cohort Study, Charge Consortium, Icbp Consortium, Daniel Levy, Todd L Edwards, Patricia B Munroe, Harold Snieder, Helen R Warren

Faculty, Staff and Student Publications

Hypertension affects more than one billion people worldwide. Here we identify 113 novel loci, reporting a total of 2,103 independent genetic signals (P < 5 × 10-8) from the largest single-stage blood pressure (BP) genome-wide association study to date (n = 1,028,980 European individuals). These associations explain more than 60% of single nucleotide polymorphism-based BP heritability. Comparing top versus bottom deciles of polygenic risk scores (PRSs) reveals clinically meaningful differences in BP (16.9 mmHg systolic BP, 95% CI, 15.5-18.2 mmHg, P = 2.22 × 10-126) and more than a sevenfold higher odds of hypertension risk (odds ratio, 7.33; 95% CI, 5.54-9.70; P = 4.13 × 10-44) in an independent dataset. Adding PRS into hypertension-prediction models increased the area under the receiver operating characteristic curve (AUROC) from 0.791 (95% CI, 0.781-0.801) to 0.826 (95% CI, 0.817-0.836, ∆AUROC, 0.035, P = 1.98 × 10-34). We compare the 2,103 loci results in non-European ancestries and show significant PRS associations in a large African-American sample. Secondary analyses implicate 500 genes previously unreported for BP. Our study highlights the role of increasingly large genomic studies for precision health research.


Tenapanor As Therapy For Hyperphosphatemia In Maintenance Dialysis Patients: Results From The Optimize Study, Stuart M Sprague, Daniel E Weiner, David P Tietjen, Pablo E Pergola, Steven Fishbane, Geoffrey A Block, Arnold L Silva, Stephen Z Fadem, Robert I Lynn, George Fadda, Lynae Pagliaro, Suling Zhao, Susan Edelstein, David M Spiegel, David P Rosenbaum May 2024

Tenapanor As Therapy For Hyperphosphatemia In Maintenance Dialysis Patients: Results From The Optimize Study, Stuart M Sprague, Daniel E Weiner, David P Tietjen, Pablo E Pergola, Steven Fishbane, Geoffrey A Block, Arnold L Silva, Stephen Z Fadem, Robert I Lynn, George Fadda, Lynae Pagliaro, Suling Zhao, Susan Edelstein, David M Spiegel, David P Rosenbaum

Faculty, Staff and Students Publications

KEY POINTS: Tenapanor, a first-in-class local inhibitor of sodium/hydrogen exchanger isoform 3, acts as a phosphate absorption inhibitor by decreasing paracellular phosphate absorption. Tenapanor alone or with phosphate binders achieved

BACKGROUND: OPTIMIZE was a randomized, open-label study evaluating different tenapanor initiation methods. OPTIMIZE evaluated tenapanor alone and in combination with phosphate binders (PBs) to achieve target serum phosphate (P) ≤5.5 mg/dl.

METHODS: Patients with inadequately controlled P receiving maintenance dialysis from 42 US locations who were taking PBs with baseline

RESULTS: By part A end point, 34.4% (

CONCLUSIONS: Tenapanor as monotherapy or in combination with PBs effectively lowered P …


Age-Related Differences In The Mouse Corneal Epithelial Transcriptome And Their Impact On Corneal Wound Healing, Anmar Abu-Romman, Kaitlin K Scholand, Gowthaman Govindarajan, Zhiyuan Yu, Sonali Pal-Ghosh, Mary A Stepp, Cintia S De Paiva May 2024

Age-Related Differences In The Mouse Corneal Epithelial Transcriptome And Their Impact On Corneal Wound Healing, Anmar Abu-Romman, Kaitlin K Scholand, Gowthaman Govindarajan, Zhiyuan Yu, Sonali Pal-Ghosh, Mary A Stepp, Cintia S De Paiva

Faculty, Staff and Students Publications

PURPOSE: Aging is a risk factor for dry eye. We sought to identify changes in the aged mouse corneal epithelial transcriptome and determine how age affects corneal sensitivity, re-epithelialization, and barrier reformation after corneal debridement.

METHODS: Corneal epithelium of female C57BL/6J (B6) mice of different ages (2, 12, 18, and 24 months) was collected, RNA extracted, and bulk RNA sequencing performed. Cornea sensitivity was measured with an esthesiometer in 2- to 3-month-old, 12- to 13-month-old, 18- to 19-month-old, and 22- to 25-month-old female and male mice. The 2-month-old and 18-month-old female and male mice underwent unilateral corneal debridement using a …


Illness Perceptions And Health-Promoting Behaviors: The Buffering Role Of Resilience In Adults With Congenital Heart Disease, Taylor Rose Eldridge May 2024

Illness Perceptions And Health-Promoting Behaviors: The Buffering Role Of Resilience In Adults With Congenital Heart Disease, Taylor Rose Eldridge

Electronic Theses and Dissertations

Congenital heart defects (CHD) are one of the most prevalent genetic abnormalities, impacting the lives of millions of children, teens, and young adults. Conservative diagnoses estimate that 2.4 million children and adults are living with CHD in the United States (Gilboa et al., 2016). CHD requires consistent cardiac support with multiple surgeries and hospitalizations expected throughout the lifetime, which significantly impacts psychological health. Specifically, patients present with a host of extra-cardiac conditions that impact their quality of life. With advancements in medical technology, mortality rates continue to improve for this population; however, individuals face a number of consequences that impact …


Standing Posterior Trunk Rotation With Adaptive Proprioceptive Toss, Jennifer Elvir May 2024

Standing Posterior Trunk Rotation With Adaptive Proprioceptive Toss, Jennifer Elvir

Electronic Theses and Dissertations

Parkinson’s disease (PD) is a remarkably individualized disease. Nearly every person’s trajectory is unique. One person may experience tremor at an early stage of the disease, while another may experience tremor at a later stage or even not at all. For all PD patients, for certain can expect increasing difficulty as the disease progresses. Parkinson’s disease is responsible for the loss of dopamine which displays itself most notably through motor and cognitive symptom disruption. Although Parkinson’s is a chronic and progressive condition that is irremediable, significant strides have been facilitated to help control and manage the trajectory of the disease. …


Population Pharmacokinetic Analysis Of Atomoxetine And Its Metabolites In Children And Adolescents With Attention-Deficit/Hyperactivity Disorder., Shen Cheng, Mahmoud Al-Kofahi, J Steven Leeder, Jacob T. Brown May 2024

Population Pharmacokinetic Analysis Of Atomoxetine And Its Metabolites In Children And Adolescents With Attention-Deficit/Hyperactivity Disorder., Shen Cheng, Mahmoud Al-Kofahi, J Steven Leeder, Jacob T. Brown

Manuscripts, Articles, Book Chapters and Other Papers

Atomoxetine (ATX) is a non-stimulant used to treat attention-deficit/hyperactivity disorder (ADHD) and systemic exposure is highly variable due to polymorphic cytochrome P450 2D6 (CYP2D6) activity. The objective of this study was to characterize the time course of ATX and metabolites (4-hydroxyatomoxetine (4-OH); N-desmethylatomoxetine (NDA); and 2-carboxymethylatomoxetine (2-COOH)) exposure following oral ATX dosing in children with ADHD to support individualized dosing. A nonlinear mixed-effect modeling approach was used to analyze ATX, 4-OH, and NDA plasma and urine, and 2-COOH urine profiles obtained over 24-72 hours from children with ADHD (n = 23) following a single oral ATX dose. Demographics and CYP2D6 …


Approach For Defining Human Adenovirus Infection And Disease For Central Review Adjudication In Clinical Studies., Brian T. Fisher, Jesse Blumenstock, Craig L K Boge, Sydney Shuster, Alix E. Seif, Michael Green, Marian G. Michaels, Jessie L. Alexander, Monica I. Ardura, Tamara P. Miller, Diego R. Hijano, William J. Muller, Jennifer E. Schuster, Abby M. Green, Daniel E. Dulek, Adriana E. Kajon, Lara Danziger-Isakov May 2024

Approach For Defining Human Adenovirus Infection And Disease For Central Review Adjudication In Clinical Studies., Brian T. Fisher, Jesse Blumenstock, Craig L K Boge, Sydney Shuster, Alix E. Seif, Michael Green, Marian G. Michaels, Jessie L. Alexander, Monica I. Ardura, Tamara P. Miller, Diego R. Hijano, William J. Muller, Jennifer E. Schuster, Abby M. Green, Daniel E. Dulek, Adriana E. Kajon, Lara Danziger-Isakov

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Pediatric allogeneic hematopoietic cell transplant (allo-HCT) recipients are at risk for morbidity and mortality from human adenovirus (HAdV). HAdV can be detected in an asymptomatic state, referred to as infection or with signs or symptoms of illness, referred to as disease. Standardized case definitions are needed to distinguish infection from disease and allow for consistent reporting in both observational cohort studies and therapeutic clinical trials.

METHODS: A working group of experts in virology, transplant infectious disease, and HCT was assembled to develop HAdV infection and disease definitions with the degree of certainty (i.e., possible, probable, and proven). Definitions were …


Availability And Utilization Of Endoscopic Retrograde Cholangiopancreatography At Children's Hospitals., Sagar J. Pathak, Thomas M. Attard, Matthew Hall, Mustafa Arain, Melvin B. Heyman, Emily R. Perito May 2024

Availability And Utilization Of Endoscopic Retrograde Cholangiopancreatography At Children's Hospitals., Sagar J. Pathak, Thomas M. Attard, Matthew Hall, Mustafa Arain, Melvin B. Heyman, Emily R. Perito

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: No study has explored whether availability of endoscopic retrograde cholangiopancreatography (ERCP) is adequate and equitable across US children's hospitals. We hypothesized that ERCP availability and utilization differs by geography and patient factors.

METHODS: Healthcare encounter data from 2009 to 2019 on children with pancreatic and biliary diseases from the Pediatric Health Information System were analyzed. ERCP availability was defined as treatment at a hospital that performed pediatric ERCP during the year of service.

RESULTS: From 2009 to 2019, 37,946 children (88,420 encounters) had a potential pancreatic or biliary indication for ERCP; 7066 ERCPs were performed. The commonest pancreatic diagnoses …


Safety And Efficacy Of Ivacaftor In Infants Aged 1 To Less Than 4 Months With Cystic Fibrosis., Paul Mcnally, Alvin Singh, Susanna A. Mccolley, Jane C. Davies, Mark Higgins, Meng Liu, Jennifer Lu, Violeta Rodriguez-Romero, Judy L. Shih, Margaret Rosenfeld, Vx15-770-124 Study Group May 2024

Safety And Efficacy Of Ivacaftor In Infants Aged 1 To Less Than 4 Months With Cystic Fibrosis., Paul Mcnally, Alvin Singh, Susanna A. Mccolley, Jane C. Davies, Mark Higgins, Meng Liu, Jennifer Lu, Violeta Rodriguez-Romero, Judy L. Shih, Margaret Rosenfeld, Vx15-770-124 Study Group

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Ivacaftor (IVA) has been shown to be safe and efficacious in children aged ≥4 months with cystic fibrosis (CF) and CFTR gating variants. We evaluated safety, pharmacokinetics (PK), and efficacy of IVA in a small cohort of infants aged 1 toCF.

METHODS: In this phase 3, open-label study, infants 1 toinfants, doses were adjusted at day 15 to better match median adult exposures based on individual PK measurements taken on day 4. Primary endpoints were safety and PK measurements.

RESULTS: Seven infants (residual function CFTR variants [n=5]; minimal function CFTR variants [n=2]) received ≥1 dose of IVA. Six infants …


Expanding The Access To Kidney Transplantation: Strategies For Kidney Transplant Programs, Angie Nishio Lucar, Ankita Patel, Shikha Mehta, Anju Yadav, Mona Doshi, Megan Urbanski, Beatrice Concepcion, Neeraj Singh, M. Lee Sanders, Arpita Basu, Jessica Harding, Ana Rossi, Oluwafisayo Adebiyi, Milagros Samaniego-Picota, Kenneth Woodside, Ronald Parsons May 2024

Expanding The Access To Kidney Transplantation: Strategies For Kidney Transplant Programs, Angie Nishio Lucar, Ankita Patel, Shikha Mehta, Anju Yadav, Mona Doshi, Megan Urbanski, Beatrice Concepcion, Neeraj Singh, M. Lee Sanders, Arpita Basu, Jessica Harding, Ana Rossi, Oluwafisayo Adebiyi, Milagros Samaniego-Picota, Kenneth Woodside, Ronald Parsons

Department of Medicine Faculty Papers

Kidney transplantation is the most successful kidney replacement therapy available, resulting in improved recipient survival and societal cost savings. Yet, nearly 70 years after the first successful kidney transplant, there are still numerous barriers and untapped opportunities that constrain the access to transplant. The literature describing these barriers is extensive, but the practices and processes to solve them are less clear. Solutions must be multidisciplinary and be the product of strong partnerships among patients, their networks, health care providers, and transplant programs. Transparency in the referral, evaluation, and listing process as well as organ selection are paramount to build such …


Synchronous Cervical Sympathetic Chain Schwannoma, Parathyroid Adenoma And Hypofunctional Nodular Goiter - A Case Report And Literature Review, Flaviu Muresan, Alexandrina Manuela Muresan, Gabriel Emil Petre, Iacob Domsa, Vasile Ovidiu Fabian, Olga Hilda Orasan Apr 2024

Synchronous Cervical Sympathetic Chain Schwannoma, Parathyroid Adenoma And Hypofunctional Nodular Goiter - A Case Report And Literature Review, Flaviu Muresan, Alexandrina Manuela Muresan, Gabriel Emil Petre, Iacob Domsa, Vasile Ovidiu Fabian, Olga Hilda Orasan

Journal of Mind and Medical Sciences

Simultaneously diagnosing cervical sympathetic chain schwannoma, nodular goiter and parathyroid adenoma is a very rare event during clinical practice. We had the opportunity to find this unusual association on a female patient. While nodular goiter and parathyroid adenoma are more common diseases and easier to diagnose, identifying the etiology of a parapharyngeal space tumor remains a challenge and requires multiple imaging studies such as computed tomography scan, magnetic resonance imaging or angiography. A cervical sympathetic chain schwannoma, a carotid body tumor, a paraganglioma or a vagal schwannoma must be taken into account as possible diagnostic variants. Complaints such as Horner`s …


Ercp Extraction Of Stones In Situs Inversus Patients; State-Of-The-Art Techniques, Deniz Gunsahin, Madalina Ilie, Oana Plotogea, Dan Nicolae Paduraru, Alexandra Bolocan, Octavian Andronic, Florentina Musat, Vlad Baleanu, Dragos Davitoiu, Mihai Pahomeanu, Bogdan Dumbrava, Vlad Enciu, Alexandru Constantinescu Apr 2024

Ercp Extraction Of Stones In Situs Inversus Patients; State-Of-The-Art Techniques, Deniz Gunsahin, Madalina Ilie, Oana Plotogea, Dan Nicolae Paduraru, Alexandra Bolocan, Octavian Andronic, Florentina Musat, Vlad Baleanu, Dragos Davitoiu, Mihai Pahomeanu, Bogdan Dumbrava, Vlad Enciu, Alexandru Constantinescu

Journal of Mind and Medical Sciences

Situs inversus totalis (SIT) is a rare congenital disease that causes mirror transposition of the abdomino-thoracic structures. When such patients develop pathologies related to the bile duct, most commonly choledocholithiasis, the optimal diagnostic process can be hampered by the rarity of such a pathology and the lack of medical information on this topic. Once the diagnosis is established, through endoscopic ultrasound and MRCP, the patient is sent to perform ERCP, which requires tailored approaches for each case. We present the case of a 33-year-old patient who was previously documented with SIT. On admission she presented with abdominal pain and fever …


The Role Of Radiotherapy In The Complex Treatment Of Mycosis Fungoides; A Case Report, Laura Florentina Rebegea, Claudia-Elena Pavel, Nadejda Corobcean, Ana Maria Ilie, Dorel Firescu, Madalin Guliciuc, Elena Niculet, Mihaela Dumitru, Daniela Mihalache, Flavius Bulgaru, Roxana-Andreea Rahnea-Nita Apr 2024

The Role Of Radiotherapy In The Complex Treatment Of Mycosis Fungoides; A Case Report, Laura Florentina Rebegea, Claudia-Elena Pavel, Nadejda Corobcean, Ana Maria Ilie, Dorel Firescu, Madalin Guliciuc, Elena Niculet, Mihaela Dumitru, Daniela Mihalache, Flavius Bulgaru, Roxana-Andreea Rahnea-Nita

Journal of Mind and Medical Sciences

Introduction. Mycosis fungoides (MF) is the most common form of primary cutaneous T-cell lymphoma. Radiotherapy induces excellent response rates in the treatment of localized or extensive lesions of MF, both as monotherapy and as part of a multidisciplinary treatment. Total skin irradiation with electrons or protons is available in a limited number of medical centers and is mainly used in patients with extensive MF. Case presentation. It is presented the case of a 47-year-old patient who developed erythematous papules and plaques on the chest, upper limbs, face and scalp, initially diagnosed as chronic eczema and treated with systemic corticotherapy, antihistamines …


Metachronous Mucinous Breast Carcinoma And Mucinous Pancreatic Cystadenoma In A Patient With Metabolic Comorbidities; Case Report And A Literature Review, Teodora Gabriela Alexescu, Irina Obada, Angela Cozma, Mirela Georgiana Perne, Olga Hilda Orasan, Vasile Negrean, Iacob Domsa, Victoria Ruta, Simina Felicia Țărmure Apr 2024

Metachronous Mucinous Breast Carcinoma And Mucinous Pancreatic Cystadenoma In A Patient With Metabolic Comorbidities; Case Report And A Literature Review, Teodora Gabriela Alexescu, Irina Obada, Angela Cozma, Mirela Georgiana Perne, Olga Hilda Orasan, Vasile Negrean, Iacob Domsa, Victoria Ruta, Simina Felicia Țărmure

Journal of Mind and Medical Sciences

Mucinous breast carcinoma is a rare subtype of mammary neoplasm encountered in medical practice. It represents approximately 1-6% of all breast cancers and is more common in postmenopausal women. There are two subtypes of mucinous breast carcinoma: pure and mixed. We report the case of a 73-year-old Caucasian woman diagnosed with mucinous pancreatic cystadenoma in 2007. She underwent a surgical procedure involving pancreatectomy of the body and tail, along with multiple known cardiovascular and metabolic comorbidities. In November 2019, during a clinical-biological evaluation for associated diseases, a mucinous carcinoma of the right breast was accidentally detected and later confirmed through …


Single Case Experimental Design Examining Cognitive Behavioural Therapy For Post-Stroke Depression, Liam Alexander Mackenzie Myles, Emma Jones Apr 2024

Single Case Experimental Design Examining Cognitive Behavioural Therapy For Post-Stroke Depression, Liam Alexander Mackenzie Myles, Emma Jones

Journal of Mind and Medical Sciences

Background. Post-stroke depression (PSD) is common in older-age adults and is typically treated with cognitive-behavioural therapy (CBT). However, research has ascertained mixed findings regarding the efficacy of CBT for PSD in older-age adults, with limited evidence in people from global majority backgrounds. Materials and Methods. This case study used single case experimental design methodology to examine the effectiveness of CBT for PSD in a black, older-age man. The effects of health conditions, cohort beliefs, transitions in role investments, socio-cultural context and early experiences on the client’s thoughts, emotions, physical sensations and behaviours were formulated, before behavioural activation was used to …


Surgical Management Of Retroperitoneal Hydatid Cysts - Results On A Group Of Six Patients, Dragos George Popa, Cosmin Vasile Obleaga, Ana Maria Rukie Ahmet, Cristin Constantin Vere, Vlad Ionuț Ducu, Cecil Sorin Mirea, Dan Nicolae Florescu, Mihai Călin Ciorbagiu, Dragoş Marian Popescu, Costin Teodor Streba, Lucian Florescu, Teodor Sas, Lorena Sas Apr 2024

Surgical Management Of Retroperitoneal Hydatid Cysts - Results On A Group Of Six Patients, Dragos George Popa, Cosmin Vasile Obleaga, Ana Maria Rukie Ahmet, Cristin Constantin Vere, Vlad Ionuț Ducu, Cecil Sorin Mirea, Dan Nicolae Florescu, Mihai Călin Ciorbagiu, Dragoş Marian Popescu, Costin Teodor Streba, Lucian Florescu, Teodor Sas, Lorena Sas

Journal of Mind and Medical Sciences

Objectives. Hydatid disease is a potentially lethal parasitic condition caused by the larvae of Echinococcus Granulosus; it is found in humans and more commonly in domestic and wild animals in endemic areas. This pathology is frequently encountered in the liver, the hydatid cyst with retroperitoneal location representing a rarely encountered form of evolution. Materials and Methods. In the present paper, we present a study carried out on 6 patients hospitalized in the Surgery Department of the Craiova County Emergency Clinical Hospital. These patients were diagnosed between 2002-2022 with retroperitoneal hydatid cyst or with multiple cysts (including retroperitoneal), being operated and …


Systematic Surgical Approach To Juvenile Angiofibroma, Raluca Oana Pulpă, Viorel Zainea, Cătălina Voiosu, Ruxandra Oana Aliuș, Andreea Rusescu, Irina Gabriela Ioniță, Veronica Epure, Dragoș Octavian Palade, Răzvan Hainăroșie Apr 2024

Systematic Surgical Approach To Juvenile Angiofibroma, Raluca Oana Pulpă, Viorel Zainea, Cătălina Voiosu, Ruxandra Oana Aliuș, Andreea Rusescu, Irina Gabriela Ioniță, Veronica Epure, Dragoș Octavian Palade, Răzvan Hainăroșie

Journal of Mind and Medical Sciences

Introduction. Juvenile nasopharyngeal angiofibroma is a rare type of benign vascular tumour that affects only young males, especially those between the ages of 9 and 19. Therapeutic management depends on the extent of the lesion, being conditioned by the complexity of the anatomy of the skull base and the risk of massive bleeding due to the abundant vascular supply. The purpose of this article is to describe the modern approach to juvenile nasopharyngeal angiofibroma, starting from the general knowledge on this topic and presenting the experience of our clinic. Materials and Methods. A retrospective study was conducted on 10 male …


Advantages Of Mechanical Anastomosis In Rectal Cancer Surgery, Paul Șiancu, Adrian Boicean, Denisa Tănăsescu, Dan Bratu, Ciprian Tănăsescu Apr 2024

Advantages Of Mechanical Anastomosis In Rectal Cancer Surgery, Paul Șiancu, Adrian Boicean, Denisa Tănăsescu, Dan Bratu, Ciprian Tănăsescu

Journal of Mind and Medical Sciences

Rectal oncological pathology represents an increased degree of difficulty in terms of surgical approach. Along with the development of minimally invasive surgery, technology has also increased the options for performing digestive anastomoses. A significant increase has been observed among mechanical anastomoses. The evolution of mechanical sutures through the use of the stapler has become a true symbol of technological advancement, as they have led to improvements and effective gains in quality and productivity in suture making. The aim of this paper is to highlight the advantages of the use of staplers in rectal surgery, with their help achieving a lower …


Arterial Vascularization Of The Colon; A Guide To Surgical Resection, Iulian Slavu, Florin Filipoiu, Raluca Tulin, Ileana Dima, Alexandru Dogaru, Bogdan Socea, Luminita Tomescu, Theodor Badea, Anca Oprescu Macovei, Adrian Tulin Apr 2024

Arterial Vascularization Of The Colon; A Guide To Surgical Resection, Iulian Slavu, Florin Filipoiu, Raluca Tulin, Ileana Dima, Alexandru Dogaru, Bogdan Socea, Luminita Tomescu, Theodor Badea, Anca Oprescu Macovei, Adrian Tulin

Journal of Mind and Medical Sciences

Background. Colorectal cancer is a commonly diagnosed neoplasia in men and women worldwide. This study aims to rigorously map the arterial distribution of the colon in order to assess the implications of vascular patterns in surgical resection. Methods. Cadaveric dissections were performed to explore the arterial distribution (including collateral blood flow) of the colon. The study used standard dissection tools and photographic documentation to detail the vascular architecture supporting the large intestine. Results. The dissection revealed important arterial branches and anastomoses in the area of the superior and inferior mesenteric arteries, which are able to ensure continuous local blood supply …


Smoking During Pregnancy; An Epidemiologic Study Of Knowledge And Behavior In Caucasian Women, Victoria Maria Ruta, Teodora Gabriela Alexescu, Nicoleta Stefania Motoc, Roxana Constantin, Daisy Vaida-Voevod, Milena Adina Man Apr 2024

Smoking During Pregnancy; An Epidemiologic Study Of Knowledge And Behavior In Caucasian Women, Victoria Maria Ruta, Teodora Gabriela Alexescu, Nicoleta Stefania Motoc, Roxana Constantin, Daisy Vaida-Voevod, Milena Adina Man

Journal of Mind and Medical Sciences

Introduction. Although it is an easily avoidable lifestyle, tobacco use during pregnancy is an important chronic health care problem, potentially leading to severe pregnancy complications for both mother and infant. Objectives. The purpose of this study was to evaluate the level of knowledge regarding the effects of tobacco smoking during pregnancy. Methods. An online self-report questionnaire was administered using social networks and websites to women who were pregnant or who had recently given birth. Results. 1357 women were eligible to be included in the study. 919 women smoked during their pregnancy, 105 smoked but stopped before pregnancy (former smoker) and …


Affective Temperaments And Personality Traits In Couple Well-Being, Carmela Mento, Chiara La Barbiera, Maria Catena Silvestri, Maria Rosaria Anna Muscatello, Clemente Cedro, Antonio Bruno, Gianluca Pandolfo, Fiammetta Iannuzzo, Clara Lombardo Apr 2024

Affective Temperaments And Personality Traits In Couple Well-Being, Carmela Mento, Chiara La Barbiera, Maria Catena Silvestri, Maria Rosaria Anna Muscatello, Clemente Cedro, Antonio Bruno, Gianluca Pandolfo, Fiammetta Iannuzzo, Clara Lombardo

Journal of Mind and Medical Sciences

Background. The objective of this study is to establish the link between affective temperament traits and maladaptive personality traits, to verify whether the potential presence of elements related to emotional, affective and dysfunctional relational functioning can affect the couple satisfaction, modifying the well-being or discomfort condition. Materials and Methods. A data collection questionnaire was developed to investigate the factors associated with dysfunctional emotional, affective, and relational modes of functioning. The sample consisted of 473 subjects. Data were collected including the TEMPS-A questionnaire, The Dirty Dozen Italian Assessment and the Relationship Assessment Scale (RAS). Results. The findings of this study showed …


Correlation Between Molecular Prognostic Factors And Bevacizumab Therapeutic Resistance In Patients With Metastatic Colorectal Cancer; The Avamet Study, Adrian Paul Suceveanu, Dragos Serban, Andreea Daniela Caloian, Georgeta Camelia Cozaru, Anca Chisoi, Anca Antonela Nicolau, Ioan Sergiu Micu, Andra Iulia Suceveanu Apr 2024

Correlation Between Molecular Prognostic Factors And Bevacizumab Therapeutic Resistance In Patients With Metastatic Colorectal Cancer; The Avamet Study, Adrian Paul Suceveanu, Dragos Serban, Andreea Daniela Caloian, Georgeta Camelia Cozaru, Anca Chisoi, Anca Antonela Nicolau, Ioan Sergiu Micu, Andra Iulia Suceveanu

Journal of Mind and Medical Sciences

Objectives. Colorectal cancer is responsible for more than two million cases diagnosed annually. Despite early diagnosis through screening programs and adequate treatment, 25% of cases are diagnosed with metastatic disease while up to 50% of patients diagnosed early progress to metastatic disease. Materials and Methods. The study of 40 patients aims to identify the role of placental growth factor and heparin-binding growth factor as prognostic tools for current treatments involving resistance to bevacizumab in metastatic colorectal cancer. Results. Our results suggested that overall survival was influenced by serum fibroblast growth factor 1 levels. A cut-off value of 260.71 pg/ml was …


Medical And Psychological Management Of Patients With A History Of Surgical Treatment For Pancreatic Diseases, Magdalena Țone, Daniel Cochior, Oana Denisa Balalau, Tomescu Dana Rodica, Cristian Balalau, Teodora Mocan, Aurelian Udristoiu, Gabriel Petre Gorecki Apr 2024

Medical And Psychological Management Of Patients With A History Of Surgical Treatment For Pancreatic Diseases, Magdalena Țone, Daniel Cochior, Oana Denisa Balalau, Tomescu Dana Rodica, Cristian Balalau, Teodora Mocan, Aurelian Udristoiu, Gabriel Petre Gorecki

Journal of Mind and Medical Sciences

Background. Pancreatic cancer, known for its high mortality rate and late diagnosis, remains a significant health concern. Surgery offers a potential therapeutic remedy, but it is only valid in the early stage of detection. Increasing risk factors and an aging population are expected to raise the incidence of pancreatic cancer, further challenging healthcare systems. Methods. The general objective of this study was to analyze doctors' experiences regarding the health status of patients with benign pancreatic pathology who underwent surgery and were admitted to CF2 Clinical Hospital in Bucharest. The research involved a specialized questionnaire addressing various aspects of patient health, …


Surgery Of The Colon; The Impact Of Colostomy And Postoperative Complications On Patients' Quality Of Life, Vlad Denis Constantin, Adrian Silaghi, Dragos Epistatu, Daniela Gabriela Bălan, Florin Silviu Groseanu, Denisa Mihaela Nedelcu, Ioana Paunica Apr 2024

Surgery Of The Colon; The Impact Of Colostomy And Postoperative Complications On Patients' Quality Of Life, Vlad Denis Constantin, Adrian Silaghi, Dragos Epistatu, Daniela Gabriela Bălan, Florin Silviu Groseanu, Denisa Mihaela Nedelcu, Ioana Paunica

Journal of Mind and Medical Sciences

Introduction. This study aims to evaluate the impact of stoma formation on the quality of life of patients undergoing colonic surgery, considering both emergency and elective procedures. Several factors (demographic data, Charlson comorbidity score, type of surgical intervention, duration of hospitalization, postoperative outcomes and complications, etc.) were analyzed to understand their influence on patients' well-being. Materials and Methods. A retrospective analysis was performed on patients who underwent colorectal surgery that required stoma formation. A total of 270 patients were included in the study, with 69.25% undergoing emergency surgery and 30.74% undergoing elective procedures. Results. The Charlson comorbidity score was significantly …


Preoperative Risk Factors In Hernia Recurrence: A Single-Center Study, Anca Tigora, Vlad Paic, Dragos Nicolae Garofil, Mircea Nicolae Bratucu, Mihai Zurzu, Daniela Nuta, Florian Popa, Valeriu Surlin, Stefan Patrascu, Victor Dan Eugen Strambu, Petru Adrian Radu Apr 2024

Preoperative Risk Factors In Hernia Recurrence: A Single-Center Study, Anca Tigora, Vlad Paic, Dragos Nicolae Garofil, Mircea Nicolae Bratucu, Mihai Zurzu, Daniela Nuta, Florian Popa, Valeriu Surlin, Stefan Patrascu, Victor Dan Eugen Strambu, Petru Adrian Radu

Journal of Mind and Medical Sciences

Background and Objectives. Hernia recurrence is still a great challenge for surgeons regarding the optimal surgical technique, the best alloplastic material and the management of risk factors (advanced age, female sex, body mass index, smoking, diabetes, the presence of connective tissue disorders, chronic cough, etc.). The present study attempts to assess the impact of these factors in hernia recurrence, as well as the integration of the prosthetic material at the tissue level, in order to reduce possible postoperative complications. Material and Methods. A retrospective study was performed on 108 patients operated (between January 2012 and December 2022) for recurrence of …