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School of Medicine Faculty Publications

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Articles 31 - 60 of 79

Full-Text Articles in Anatomy

Acute Stress Activates Basolateral Amygdala Neurons Expressing Corticotropin-Releasing Hormone Receptor Type 1 (Crhr1): Topographical Distribution And Projection-Specific Activation In Male And Female Rats, Robert J. Aukema, Gavin N. Petrie, Samantha L. Baglot, Nicholas W. Gilpin, Matthew N. Hill Nov 2024

Acute Stress Activates Basolateral Amygdala Neurons Expressing Corticotropin-Releasing Hormone Receptor Type 1 (Crhr1): Topographical Distribution And Projection-Specific Activation In Male And Female Rats, Robert J. Aukema, Gavin N. Petrie, Samantha L. Baglot, Nicholas W. Gilpin, Matthew N. Hill

School of Medicine Faculty Publications

Although the basolateral amygdala (BLA) and corticotropin releasing hormone receptor type I (CRHR1) signaling are both central to the stress response, the spatial and circuit-specific distribution of CRHR1 have not been identified in the BLA at a high resolution. We used transgenic male and female CRHR1-Cre-tdTomato rats to topographically map the distribution of BLA neurons and identify whether they are activated by acute stress. Additionally, we used the BLA circuits projecting to the central amygdala (CeA) and nucleus accumbens (NAc) as a model to test circuit-specific expression of CRHR1 in the BLA. We established several key findings. First, CRHR1 had …


Guidelines For The Prevention, Diagnosis, And Management Of Urinary Tract Infections In Pediatrics And Adults: A Wikiguidelines Group Consensus Statement, Zachary Nelson, Abdullah Tarik Aslan, Nathan P. Beahm, Michelle Blyth, Matthew Cappiello, Danielle Casaus, Fernando Dominguez, Susan Egbert, Alexandra Hanretty, Tina Khadem, Katie Olney, Ahmed Abdul-Azim, Gloria Aggrey, Daniel T. Anderson, Mariana Barosa, Michael Bosco, Elias B. Chahine, Souradeep Chowdhury, Alyssa Christensen, Daniela De Lima Corvino, Margaret Fitzpatrick, Molly Fleece, Brent Footer, Emily Fox, Bassam Ghanem, Fergus Hamilton, Justin Hayes, Boris Jegorovic, Philipp Jent, Et Al Nov 2024

Guidelines For The Prevention, Diagnosis, And Management Of Urinary Tract Infections In Pediatrics And Adults: A Wikiguidelines Group Consensus Statement, Zachary Nelson, Abdullah Tarik Aslan, Nathan P. Beahm, Michelle Blyth, Matthew Cappiello, Danielle Casaus, Fernando Dominguez, Susan Egbert, Alexandra Hanretty, Tina Khadem, Katie Olney, Ahmed Abdul-Azim, Gloria Aggrey, Daniel T. Anderson, Mariana Barosa, Michael Bosco, Elias B. Chahine, Souradeep Chowdhury, Alyssa Christensen, Daniela De Lima Corvino, Margaret Fitzpatrick, Molly Fleece, Brent Footer, Emily Fox, Bassam Ghanem, Fergus Hamilton, Justin Hayes, Boris Jegorovic, Philipp Jent, Et Al

School of Medicine Faculty Publications

IMPORTANCE: Traditional approaches to practice guidelines frequently result in dissociation between strength of recommendation and quality of evidence. OBJECTIVE: To create a clinical guideline for the diagnosis and management of urinary tract infections that addresses the gap between the evidence and recommendation strength. EVIDENCE REVIEW: This consensus statement and systematic review applied an approach previously established by the WikiGuidelines Group to construct collaborative clinical guidelines. In May 2023, new and existing members were solicited for questions on urinary tract infection prevention, diagnosis, and management. For each topic, literature searches were conducted up until early 2024 in any language. Evidence was …


Sars-Cov-2 Infection Induces Human Milk Antibodies Capable Of Mediating Multiple Functional Activities, Jared Sheehan, Aline Andres, Laxmi Yeruva, Alistair J. Ramsay Oct 2024

Sars-Cov-2 Infection Induces Human Milk Antibodies Capable Of Mediating Multiple Functional Activities, Jared Sheehan, Aline Andres, Laxmi Yeruva, Alistair J. Ramsay

School of Medicine Faculty Publications

Background and Aims: Passive transfer of antibodies through breastfeeding is a potential mode of protection for newborns and infants following maternal SARS-CoV-2 infection. The primary goal of this study was to evaluate and characterize SARS-CoV-2 Spike (S)-specific antibodies in human milk samples collected longitudinally from a cohort of convalescent mothers. Methods: SARS-CoV-2 infected participants enrolled in this study were lactating women aged 29–36 years with a confirmed COVID-19 diagnosis who donated milk samples at intervals over the six-month study period. Samples were evaluated for antibody subclass SARS-Cov-2 S glycoprotein binding activity by ELISA, and for the capacity of antibodies purified …


Hyperbaric Oxygen Therapy In The Atls/Acls Resuscitative Management Of Acutely Ill Or Severely Injured Patients With Severe Anemia: A Review, Keith W. Van Meter Oct 2024

Hyperbaric Oxygen Therapy In The Atls/Acls Resuscitative Management Of Acutely Ill Or Severely Injured Patients With Severe Anemia: A Review, Keith W. Van Meter

School of Medicine Faculty Publications

For short periods, even without the presence of red blood cells, hyperbaric oxygen can safely allow plasma to meet the oxygen delivery requirements of a human at rest. By this means, hyperbaric oxygen, in special instances, may be used as a bridge to lessen blood transfusion requirements. Hyperbaric oxygen, applied intermittently, can readily avert oxygen toxicity while meeting the body's oxygen requirements. In acute injury or illness, accumulated oxygen debt is shadowed by adenosine triphosphate debt. Hyperbaric oxygen efficiently provides superior diffusion distances of oxygen in tissue compared to those provided by breathing normobaric oxygen. Intermittent application of hyperbaric oxygen …


Physician Perspectives About The Diagnosis And Management Of Acute Chest Syndrome, Neha Bhasin, Dana Marie Leblanc, Sean Yates, Quentin Eichbaum, An Pham, Deva Sharma, Li Zhang, Elliott P. Vichinsky, Ravi Sarode Oct 2024

Physician Perspectives About The Diagnosis And Management Of Acute Chest Syndrome, Neha Bhasin, Dana Marie Leblanc, Sean Yates, Quentin Eichbaum, An Pham, Deva Sharma, Li Zhang, Elliott P. Vichinsky, Ravi Sarode

School of Medicine Faculty Publications

Background: Acute chest syndrome (ACS) is the leading cause of mortality, accounting for 25% of all deaths among individuals with sickle cell disease (SCD). There is a lack of evidence-based laboratory and clinical risk stratification guidelines for the diagnosis and management of ACS. Study Design and Methods: To better understand physician practices for the management of ACS in the United States, we created an ACS Working Group including hematology and transfusion medicine physicians from four different SCD treatment centers in the United States. The working group created a physician survey that included physician demographics and ACS diagnostic criteria that they …


Molecular Architecture Of Chitin And Chitosan-Dominated Cell Walls In Zygomycetous Fungal Pathogens By Solid-State Nmr, Qinghui Cheng, Malitha C. Dickwella Widanage, Jayasubba Reddy Yarava, Ankur Ankur, Jean Paul Latgé, Ping Wang, Tuo Wang Sep 2024

Molecular Architecture Of Chitin And Chitosan-Dominated Cell Walls In Zygomycetous Fungal Pathogens By Solid-State Nmr, Qinghui Cheng, Malitha C. Dickwella Widanage, Jayasubba Reddy Yarava, Ankur Ankur, Jean Paul Latgé, Ping Wang, Tuo Wang

School of Medicine Faculty Publications

Zygomycetous fungal infections pose an emerging medical threat among individuals with compromised immunity and metabolic abnormalities. Our pathophysiological understanding of these infections, particularly the role of fungal cell walls in growth and immune response, remains limited. Here we conducted multidimensional solid-state NMR analysis to examine cell walls in five Mucorales species, including key mucormycosis causative agents like Rhizopus and Mucor species. We show that the rigid core of the cell wall primarily comprises highly polymorphic chitin and chitosan, with minimal quantities of β-glucans linked to a specific chitin subtype. Chitosan emerges as a pivotal molecule preserving hydration and dynamics. Some …


Differential Analysis Of The Impact Of Lesions’ Location On Clinical And Radiological Outcomes After The Implantation Of A Novel Aragonite-Based Scaffold To Treat Knee Cartilage Defects, Pietro Conte, Giuseppe Anzillotti, Dennis C. Crawford, Vinod Dasa, David C. Flanigan, William E. Nordt, Jason M. Scopp, Robert J. Meislin, Eric J. Strauss, Sabrina M. Strickland, Gennaro Fiorentino, Christian Lattermann Sep 2024

Differential Analysis Of The Impact Of Lesions’ Location On Clinical And Radiological Outcomes After The Implantation Of A Novel Aragonite-Based Scaffold To Treat Knee Cartilage Defects, Pietro Conte, Giuseppe Anzillotti, Dennis C. Crawford, Vinod Dasa, David C. Flanigan, William E. Nordt, Jason M. Scopp, Robert J. Meislin, Eric J. Strauss, Sabrina M. Strickland, Gennaro Fiorentino, Christian Lattermann

School of Medicine Faculty Publications

Purpose: There is limited comparative evidence on patient outcomes following cartilage repair in various knee compartments. The aim of this study was to compare clinical and imaging outcomes after treating cartilage defects in femoral condyles and trochlea with either an aragonite-based scaffold or surgical standard of care (SSoC, i.e., debridement/microfractures) in a large multicentre randomized controlled trial. Methods: 247 patients with up to three knee joint surface lesions (ICRS grade IIIa or above) in the femoral condyles, trochlea or both (“mixed”), were enrolled and randomized to surgery with either a cell-free aragonite scaffold or SSoC. Patients were followed for up …


Rule Breakers Achieve Successful Shoulder Balance: Unraveling The Myth Of Upper Instrumented Vertebrae Selection Criteria, Luke C. Drake, Peter W. D’Amore, Bailli Fontenot, Tyler A. Tetreault, Manaf Younis, Claudia Leonardi, Jaquelyn Valenzuela-Moss, Lindsay M. Andras, Michael J. Heffernan Sep 2024

Rule Breakers Achieve Successful Shoulder Balance: Unraveling The Myth Of Upper Instrumented Vertebrae Selection Criteria, Luke C. Drake, Peter W. D’Amore, Bailli Fontenot, Tyler A. Tetreault, Manaf Younis, Claudia Leonardi, Jaquelyn Valenzuela-Moss, Lindsay M. Andras, Michael J. Heffernan

School of Medicine Faculty Publications

Purpose: This study compared shoulder balance outcomes in “rule breakers” (RB) vs. “rule followers” (RF) based on commonly utilized upper instrumented vertebrae (UIV) selection guidelines. Methods: Adolescent idiopathic scoliosis (AIS) patients (Lenke 1–4) who underwent posterior spine fusion (PSF) with minimum 2-year follow-up had radiographic measurement of shoulder balance including first rib angle (FRA), T1 tilt, coracoid process height difference (CPHD), and clavicle angle (CA) at preop, postop, 6-month, 1-year, and 2-year timepoints. Postoperative outcomes were compared between RB and RF groups defined based on the UIV selection guidelines of Rose and Lenke. Results: Among 88 patients (43 RF, 45 …


Transcatheter Aortic Valve Replacement Is Ready For Most Low-Risk Patients: A Systematic Review Of The Literature, Ahmad Jabri, Anas Alameh, Gennaro Giustino, Pedro Engel Gonzalez, Brian O'Neill, Rodrigo Bagur, Pedro Cox, Tiberio Frisoli, James Lee, Dee Dee Wang, William W. O'Neill, Pedro Villablanca Sep 2024

Transcatheter Aortic Valve Replacement Is Ready For Most Low-Risk Patients: A Systematic Review Of The Literature, Ahmad Jabri, Anas Alameh, Gennaro Giustino, Pedro Engel Gonzalez, Brian O'Neill, Rodrigo Bagur, Pedro Cox, Tiberio Frisoli, James Lee, Dee Dee Wang, William W. O'Neill, Pedro Villablanca

School of Medicine Faculty Publications

Transcatheter aortic valve replacement (TAVR) has undergone rapid expansion, emerging as a viable therapeutic option for low-risk patients in lieu of surgical aortic valve replacement. This paper aims to provide a review of the scientific evidence concerning TAVR in low-risk patients, encompassing both observational and clinical trial data. Furthermore, a substantial proportion of low-risk patients possesses a bicuspid aortic valve, necessitating careful examination of the pertinent anatomic and clinical considerations to TAVR that is highlighted in this review. Additionally, the review expands upon some of the unique challenges associated with alternate access in low-risk patients evaluated for TAVR. Last, this …


The Effectiveness Of The Gnana Laryngeal Mask Airway Ii (Gla-Ii) With Novel Suction Tubing In Gastrointestinal (Gi) Cases, Shahab Ahmadzadeh, Landyn D. Johnson, William T. Barham, James Ilochi, Matthew Fredericks, Giustino Varrassi, Sahar Shekoohi, Alan D. Kaye Sep 2024

The Effectiveness Of The Gnana Laryngeal Mask Airway Ii (Gla-Ii) With Novel Suction Tubing In Gastrointestinal (Gi) Cases, Shahab Ahmadzadeh, Landyn D. Johnson, William T. Barham, James Ilochi, Matthew Fredericks, Giustino Varrassi, Sahar Shekoohi, Alan D. Kaye

School of Medicine Faculty Publications

INTRODUCTION: The Gnana laryngeal mask airway II (GLA-II) is a supraglottic airway device similar to the classic laryngeal mask airway, except it has an additional suction port. This suction port allows for the removal of secretions and saliva. A previous version of the Gnana laryngeal airway 4 was made of silicone, while this newer version is made of polyvinyl chloride (PVC), which is more affordable. This study aimed to demonstrate the effectiveness and tolerability of this PVC-designed GLA-II and evaluate its ability to suction secretions. METHODS: The prospective cohort study included 100 gastrointestinal (GI) cases to determine the effectiveness and …


Simple And Epididymal-Sparing Orchiectomy For Surgical Castration In Stage Iv Prostate Cancer, Harrison Travis, Michael Dubic, Joseph Bardot, Blane Edwards, Jessie R. Gills, Scott E. Delacroix, Stephen Lacour, Matthew Mutter, Donald Bell, Mary E. Westerman Sep 2024

Simple And Epididymal-Sparing Orchiectomy For Surgical Castration In Stage Iv Prostate Cancer, Harrison Travis, Michael Dubic, Joseph Bardot, Blane Edwards, Jessie R. Gills, Scott E. Delacroix, Stephen Lacour, Matthew Mutter, Donald Bell, Mary E. Westerman

School of Medicine Faculty Publications

Background: Androgen deprivation therapy, the mainstay of treatment for patients with advanced prostate cancer, can be either medical or surgical. Surgery has cost benefits compared to medical treatment. In this study, we evaluated the use of simple and epididymal-sparing orchiectomy in 2 different practice settings for the treatment of metastatic prostate cancer. Methods: We reviewed patients who underwent surgical castration for metastatic prostate cancer between 2011 and 2022. The primary outcome was achieving castration-level total testosterone of /dL. We also compared the characteristics of patients who were seen at a public academic teaching hospital vs those who were seen at …


Loss Of Hormone Receptor Expression After Exposure To Fluid Shear Stress In Breast Cancer Cell Lines, Jonathan Cuccia, Braulio Andres Ortega Quesada, Ethan P. Littlefield, Alejandra M. Ham, Matthew E. Burow, Adam T. Melvin, Elizabeth C. Martin Jun 2024

Loss Of Hormone Receptor Expression After Exposure To Fluid Shear Stress In Breast Cancer Cell Lines, Jonathan Cuccia, Braulio Andres Ortega Quesada, Ethan P. Littlefield, Alejandra M. Ham, Matthew E. Burow, Adam T. Melvin, Elizabeth C. Martin

School of Medicine Faculty Publications

Following metastatic spread, many hormone receptor positive (HR(+)) patients develop a more aggressive phenotype with an observed loss of the HRs estrogen receptor (ER) and progesterone receptor (PR). During metastasis, breast cancer cells are exposed to high magnitudes of fluid shear stress (FSS). Unfortunately, the role for FSS on the regulation of HR expression and function during metastasis is not fully understood. This study was designed to elucidate the impact of FSS on HR(+) breast cancer. Utilizing a microfluidic platform capable of exposing breast cancer cells to FSS that mimics in situ conditions, we demonstrate the impact of FSS exposure …


Pro-Resolving Lipid Mediator Reduces Amyloid-Β42-Induced Gene Expression In Human Monocyte-Derived Microglia, Ying Wang, Xiang Zhang, Henrik Biverstål, Nicolas G. Bazan, Shuai Tan, Nailin Li, Makiko Ohshima, Marianne Schultzberg, Xiaofei Li May 2024

Pro-Resolving Lipid Mediator Reduces Amyloid-Β42-Induced Gene Expression In Human Monocyte-Derived Microglia, Ying Wang, Xiang Zhang, Henrik Biverstål, Nicolas G. Bazan, Shuai Tan, Nailin Li, Makiko Ohshima, Marianne Schultzberg, Xiaofei Li

School of Medicine Faculty Publications

JOURNAL/nrgr/04.03/01300535-202503000-00031/figure1/v/2024-06-17T092413Z/r/image-tiff Specialized pro-resolving lipid mediators including maresin 1 mediate resolution but the levels of these are reduced in Alzheimer's disease brain, suggesting that they constitute a novel target for the treatment of Alzheimer's disease to prevent/stop inflammation and combat disease pathology. Therefore, it is important to clarify whether they counteract the expression of genes and proteins induced by amyloid-β. With this objective, we analyzed the relevance of human monocyte-derived microglia for in vitro modeling of neuroinflammation and its resolution in the context of Alzheimer's disease and investigated the pro-resolving bioactivity of maresin 1 on amyloid-β42-induced Alzheimer's disease-like inflammation. Analysis of …


Blastomas Of The Digestive System In Adults: A Review, Yu Liu, Tony El Jabbour, Jonathan Somma, Yukihiro Nakanishi, Saverio Ligato, Hwajeong Lee, Zhi-Yan Fu Apr 2024

Blastomas Of The Digestive System In Adults: A Review, Yu Liu, Tony El Jabbour, Jonathan Somma, Yukihiro Nakanishi, Saverio Ligato, Hwajeong Lee, Zhi-Yan Fu

School of Medicine Faculty Publications

Blastomas, characterized by a mixture of mesenchymal, epithelial, and undifferentiated blastematous components, are rare malignant neoplasms originating from precursor blast cells. This review focuses on digestive system blastomas in adult patients, including gastroblastoma, hepatoblastoma, and pancreatoblastoma. Gastroblastoma is a biphasic, epitheliomesenchymal tumor, with only sixteen cases reported to date. In addition to the characteristic histology, metastasis-associated lung adenocarcinoma transcript 1 - glioma-associated oncogene homolog 1 gene fusion is typical, although recently novel ewing sarcoma breakpoint region 1 - c-terminal binding protein 1 and patched 1 - glioma-associated oncogene homolog 2 fusions have been described. Hepatoblastoma is exceptionally rare in adults …


A Novel Sequential Compression Appliance To Reduce Scarring Of The Face, Michelle N. Dwertman, Henry B. Huson Apr 2024

A Novel Sequential Compression Appliance To Reduce Scarring Of The Face, Michelle N. Dwertman, Henry B. Huson

School of Medicine Faculty Publications

56th Annual Meeting of the American Burn Association, ABA 2024; April 9 - 12, 2024, Chicago, IL


Ic3d Classification Of Corneal Dystrophies-Edition 3, Jayne S. Weiss, Christopher J. Rapuano, Berthold Seitz, Massimo Busin, Tero T. Kivelä, Nacim Bouheraoua, Cecilie Bredrup, Ken K. Nischal, Harshvardhan Chawla, Vincent Borderie, Kenneth R. Kenyon, Eung Kweon Kim, Hans Ulrik Møller, Francis L. Munier, Tim Berger, Walter Lisch Feb 2024

Ic3d Classification Of Corneal Dystrophies-Edition 3, Jayne S. Weiss, Christopher J. Rapuano, Berthold Seitz, Massimo Busin, Tero T. Kivelä, Nacim Bouheraoua, Cecilie Bredrup, Ken K. Nischal, Harshvardhan Chawla, Vincent Borderie, Kenneth R. Kenyon, Eung Kweon Kim, Hans Ulrik Møller, Francis L. Munier, Tim Berger, Walter Lisch

School of Medicine Faculty Publications

PURPOSE: The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This update is the third edition of the IC3D nomenclature. METHODS: Peer-reviewed publications from 2014 to 2023 were evaluated. The new information was used to update the anatomic classification and each of the 22 standardized templates including the level of evidence for being a corneal dystrophy [from category 1 (most evidence) to category 4 (least evidence)]. RESULTS: Epithelial recurrent erosion dystrophies now include epithelial recurrent erosion dystrophy, category 1 ( …


Ikaros Expression Drives The Aberrant Metabolic Phenotype Of Macrophages In Chronic Hiv Infection, Cecilia Vittori, Celeste Faia, Dorota Wyczechowska, Amber Trauth, Karlie Plaisance-Bonstaff, Mary Meyaski-Schluter, Krzysztof Reiss, Francesca Peruzzi Jan 2024

Ikaros Expression Drives The Aberrant Metabolic Phenotype Of Macrophages In Chronic Hiv Infection, Cecilia Vittori, Celeste Faia, Dorota Wyczechowska, Amber Trauth, Karlie Plaisance-Bonstaff, Mary Meyaski-Schluter, Krzysztof Reiss, Francesca Peruzzi

School of Medicine Faculty Publications

The increased risk for acquiring secondary illnesses in people living with HIV (PLWH) has been associated with immune dysfunction. We have previously found that circulating monocytes from PLWH display a trained phenotype. Here, we evaluated the metabolic profile of these cells and found increased mitochondrial respiration and glycolysis of monocyte-derived macrophages (MDMs) from PLWH. We additionally found that cART shifted the energy metabolism of MDMs from controls toward increased utilization of mitochondrial respiration. Importantly, both downregulation of IKAROS expression and inhibition of the mTOR pathway reversed the metabolic profile of MDMs from PLWH and cART-treated control-MDMs. Altogether, this study reveals …


Stable, Neuron-Specific Gene Expression In The Mouse Brain, Osama Ahmed, Kingsley M. Ekumi, Francesco V. Nardi, Gulimiheranmu Maisumu, Khaled Moussawi, Eric D. Lazartigues, Bo Liang, Abraam M. Yakoub Jan 2024

Stable, Neuron-Specific Gene Expression In The Mouse Brain, Osama Ahmed, Kingsley M. Ekumi, Francesco V. Nardi, Gulimiheranmu Maisumu, Khaled Moussawi, Eric D. Lazartigues, Bo Liang, Abraam M. Yakoub

School of Medicine Faculty Publications

Gene delivery to, and expression in, the mouse brain is important for understanding gene functions in brain development and disease, or testing gene therapies. Here, we describe an approach to express a transgene in the mouse brain in a cell-type-specific manner. We use stereotaxic injection of a transgene-expressing adeno-associated virus into the mouse brain via the intracerebroventricular route. We demonstrate stable and sustained expression of the transgene in neurons of adult mouse brain, using a reporter gene driven by a neuron-specific promoter. This approach represents a rapid, simple, and cost-effective method for global gene expression in the mouse brain, in …


Common Heart Failure With Preserved Ejection Fraction Animal Models Yield Disparate Myofibril Mechanics, Axel J. Fenwick, Vivek P. Jani, D. Brian Foster, Thomas E. Sharp, Traci T. Goodchild, Kyle Lapenna, Jake E. Doiron, David J. Lefer, Joseph A. Hill, David A. Kass, Anthony Cammarato Jan 2024

Common Heart Failure With Preserved Ejection Fraction Animal Models Yield Disparate Myofibril Mechanics, Axel J. Fenwick, Vivek P. Jani, D. Brian Foster, Thomas E. Sharp, Traci T. Goodchild, Kyle Lapenna, Jake E. Doiron, David J. Lefer, Joseph A. Hill, David A. Kass, Anthony Cammarato

School of Medicine Faculty Publications

No abstract provided.


Macrocephaly And Digital Anomalies Expand The Phenotypic Spectrum Of Pgap2 Variants In Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 (Hpmrs3), Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, Bonsu Ku, Syeda Iqra Hussain, Solveig Schulz, Oliver Puk, Saskia Biskup, Jonathan D.J. Labonne, Dilan Wellalage Don, Vijay Gupta, Tae Ik Choi, Saadullah Khan, Naveed Wasif, Yves Lacassie, Lawrence C. Layman, Sibel Aylin Ugur Iseri, Cheol Hee Kim, Hyung Goo Kim Jan 2024

Macrocephaly And Digital Anomalies Expand The Phenotypic Spectrum Of Pgap2 Variants In Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 (Hpmrs3), Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, Bonsu Ku, Syeda Iqra Hussain, Solveig Schulz, Oliver Puk, Saskia Biskup, Jonathan D.J. Labonne, Dilan Wellalage Don, Vijay Gupta, Tae Ik Choi, Saadullah Khan, Naveed Wasif, Yves Lacassie, Lawrence C. Layman, Sibel Aylin Ugur Iseri, Cheol Hee Kim, Hyung Goo Kim

School of Medicine Faculty Publications

Glycosylphosphatidylinositols (GPIs) anchor over 150 proteins as GPI-anchored proteins (GPI-APs) with crucial roles in diverse biological processes. The highly conserved biosynthesis of GPI-APs involves precise steps with at least 21 genes, categorized as PIG and PGAP genes. Pathogenic variants in these genes are linked to human diseases, highlighting the importance of each biosynthesis step. PGAP2 stands out among these genes due to its association with an expanded clinical spectrum of neurodevelopmental disorder (NDD) phenotypes with biallelic pathogenic variants. We present four patients from two families, one consanguineous and the other nonconsanguineous, each displaying distinct clinical presentations, including intellectual disability, hyperphosphatasia, …


Arachnoid Webs With Spinal Cord Compression: Insights From Three Cases, Kaleb Derouen, Kierany B. Shelvin, Tayler Payton, George A. Crabill, John M. Wilson, Gabriel Tender Dec 2023

Arachnoid Webs With Spinal Cord Compression: Insights From Three Cases, Kaleb Derouen, Kierany B. Shelvin, Tayler Payton, George A. Crabill, John M. Wilson, Gabriel Tender

School of Medicine Faculty Publications

Spinal arachnoid webs are intradural bands of abnormally formed arachnoid tissue, located within the subarachnoid space and causing compression of the dorsal aspect of the spinal cord. Arachnoid webs are uncommon and can be difficult to treat. We report 3 patients presenting with a spinal arachnoid web within a 6-month period. All of them exhibited signs of thoracic myelopathy and the MRI showed the pathognomonic 'scalpel sign'. Two of the patients underwent surgery for removal of their spinal arachnoid web, whereas the third patient case is currently being managed conservatively. We also present our 2D intraoperative video for arachnoid web …


First-Generation Cephalosporins For Treatment Of Acute Hematogenous Osteomyelitis In Children: A Study Of Efficacy And Adverse Effects, Lisa Hiskey, Hiba Saifuddin, Emily R. Levy, Roland Hentz, Nipunie S. Rajapakse, Laura M. Dinnes, Elizabeth H. Ristagno Dec 2023

First-Generation Cephalosporins For Treatment Of Acute Hematogenous Osteomyelitis In Children: A Study Of Efficacy And Adverse Effects, Lisa Hiskey, Hiba Saifuddin, Emily R. Levy, Roland Hentz, Nipunie S. Rajapakse, Laura M. Dinnes, Elizabeth H. Ristagno

School of Medicine Faculty Publications

BACKGROUND: Acute hematogenous osteomyelitis (AHO) is a relatively infrequent but significant infection in pediatric patients. As is the most common cause of AHO, intravenous and oral first-generation cephalosporins are common therapies. Cephalexin is a commonly prescribed oral therapy for pediatric AHO, although it requires frequent dosing that may affect adherence. Cefadroxil is a comparable oral first-generation cephalosporin with a more desirable dosing schedule. METHODS: We reviewed pediatric patients admitted to Mayo Clinic between March 2002 and September 2020 for management of AHO who received treatment with a first-generation cephalosporin. We reviewed timing of oral therapy transition, therapy-associated adverse effects, and …


Preoperative Computed Tomography Scan In Distal Radius Fractures And The Effect On Preoperative Planning, Adam L. Haydel, Ryan C. Roubion, Cristina T. Graphia, Corinne E. Cloud, Claudia Leonardi, Christopher E. Marrero Dec 2023

Preoperative Computed Tomography Scan In Distal Radius Fractures And The Effect On Preoperative Planning, Adam L. Haydel, Ryan C. Roubion, Cristina T. Graphia, Corinne E. Cloud, Claudia Leonardi, Christopher E. Marrero

School of Medicine Faculty Publications

Purpose: It is unclear whether computed tomography (CT) scans alter the surgical plan when ordered before surgery for fixation of intra-articular distal radius fractures (DRFs). The purpose of this study was to determine whether a preoperative CT scan alters the planned approach (PA) or planned fixation strategy (PFS) for open reduction internal fixation of intra-articular DRFs. Methods: Radiology records were retrospectively reviewed by one trauma surgeon and two hand surgeons for 33 intra-articular DRFs that met the inclusion criteria and previously underwent open reduction internal fixation. Surgeons were initially provided only preoperative radiographs; they were asked for their PA and …


Tumor Infiltrating Lymphocytes (Tils) Are A Prognosis Biomarker In Colombian Patients With Triple Negative Breast Cancer, Carlos A. Huertas-Caro, Mayra A. Ramírez, Laura Rey-Vargas, Lina María Bejarano-Rivera, Diego Felipe Ballen, Marcela Nuñez, Juan Carlos Mejía, Luz Fernanda Sua-Villegas, Alicia Cock-Rada, Jovanny Zabaleta, Laura Fejerman, María Carolina Sanabria-Salas, Silvia J. Serrano-Gomez Dec 2023

Tumor Infiltrating Lymphocytes (Tils) Are A Prognosis Biomarker In Colombian Patients With Triple Negative Breast Cancer, Carlos A. Huertas-Caro, Mayra A. Ramírez, Laura Rey-Vargas, Lina María Bejarano-Rivera, Diego Felipe Ballen, Marcela Nuñez, Juan Carlos Mejía, Luz Fernanda Sua-Villegas, Alicia Cock-Rada, Jovanny Zabaleta, Laura Fejerman, María Carolina Sanabria-Salas, Silvia J. Serrano-Gomez

School of Medicine Faculty Publications

Triple negative breast cancer (TNBC) is highly immunogenic and high levels of tumor infiltrating lymphocytes (TILs) have been associated with a better prognosis and higher probability to achieve pathological complete response. Here, we explore the potential role of stromal TILs level and composition as a prognostic and predictive biomarker in TNBC. 195 Tumor biospecimens from patients diagnosed with TNBC were included. Stromal TILs (sTILs), positive CD4/CD8 cells were evaluated. Differences in clinic-pathological characteristics according to immune infiltration were assessed. The predictive and prognostic value of immune infiltration was analyzed by multivariate models. Higher immune infiltration was observed in patients with …


Cytomegalovirus And Varicella Zoster Virus Coinfection-Associated Central Hypoventilation Syndrome (Ondine's Curse), Marine Isakadze, Benjamin Zwain, Alan J. Velander, Jesus Lovera Nov 2023

Cytomegalovirus And Varicella Zoster Virus Coinfection-Associated Central Hypoventilation Syndrome (Ondine's Curse), Marine Isakadze, Benjamin Zwain, Alan J. Velander, Jesus Lovera

School of Medicine Faculty Publications

Central hypoventilation syndrome (CHS) is a rare condition resulting from damage to the respiratory centers in the central nervous system (CNS). It can be congenital or acquired and can cause hypoventilation, inadequate gas exchange, and respiratory failure, often during sleep but sometimes even while awake. CHS can lead to respiratory failure and life-threatening complications if not identified promptly. In this report, we present a rare case of a patient with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS), who developed CHS likely due to an opportunistic infection by cytomegalovirus (CMV) and varicella zoster virus (VZV), manifesting as a lesion in the …


A Novel Function Of Protein S In Clot Retraction, Narender Kumar, Alaina Guilbeau, V. Pilli, Rinku Majumder Nov 2023

A Novel Function Of Protein S In Clot Retraction, Narender Kumar, Alaina Guilbeau, V. Pilli, Rinku Majumder

School of Medicine Faculty Publications

ISTH 2023 Congress, June 24 - 28, 2023, Montreal, Canada


Left Juxtaposition Of The Right Atrial Appendage: Pitfalls In Diagnosis, Kanya Singhapakdi, Wesam Sourour, Thomas Kimball Nov 2023

Left Juxtaposition Of The Right Atrial Appendage: Pitfalls In Diagnosis, Kanya Singhapakdi, Wesam Sourour, Thomas Kimball

School of Medicine Faculty Publications

Several congenital anomalies of the right atrial appendage (RAA) have been described including aneurysm, herniation (in association with a pericardial defect), and left juxtaposition. The left juxtaposition of the RAA (LJRAA), first described by Birmingham in 1893 and subsequently introduced by Dixon in 1954, is usually associated with complex cardiac malformations such as obstruction of the left ventricular outflow tract. In this case report, we will describe an unusual variant of LJRAA in the absence of any other cardiac defects, which was initially misinterpreted as an aortic dissection. The correct diagnosis was made after careful reinterpretation and the use of …


Dha Shortage Causes The Early Degeneration Of Photoreceptors And Rpe In Mice With Peroxisomal Β-Oxidation Deficiency, Daniëlle Swinkels, Sai Kocherlakota, Yannick Das, Adriaan D. Dane, Eric J.M. Wever, Frédéric M. Vaz, Nicolas G. Bazan, Paul P. Van Veldhoven, Myriam Baes Nov 2023

Dha Shortage Causes The Early Degeneration Of Photoreceptors And Rpe In Mice With Peroxisomal Β-Oxidation Deficiency, Daniëlle Swinkels, Sai Kocherlakota, Yannick Das, Adriaan D. Dane, Eric J.M. Wever, Frédéric M. Vaz, Nicolas G. Bazan, Paul P. Van Veldhoven, Myriam Baes

School of Medicine Faculty Publications

PURPOSE. Patients deficient in peroxisomal β-oxidation, which is essential for the synthesis of docosahexaenoic acid (DHA, C22:6n-3) and breakdown of very-long-chain polyunsaturated fatty acids (VLC-PUFAs), both important components of photoreceptor outer segments, develop retinopathy present with retinopathy. The representative mouse model lacking the central enzyme of this pathway, multifunctional protein 2 (Mfp2−/−), also show early-onset retinal decay and cell-autonomous retinal pigment epithelium (RPE) degeneration, accompanied by reduced plasma and retinal DHA levels. In this study, we investigated whether DHA supplementation can rescue the retinal degeneration of Mfp2−/− mice. METHODS. Mfp2+/− breeding pairs and their offspring were fed a 0.12% DHA …


Ca2+-Regulated Expression Of High Affinity Methylaminoisobutryic Acid Transport In Hippocampal Neurons Inhibited By Riluzole And Novel Neuroprotective Aminothiazoles, Jeffrey D. Erickson, Thomas Kyllo, Heike Wulff Oct 2023

Ca2+-Regulated Expression Of High Affinity Methylaminoisobutryic Acid Transport In Hippocampal Neurons Inhibited By Riluzole And Novel Neuroprotective Aminothiazoles, Jeffrey D. Erickson, Thomas Kyllo, Heike Wulff

School of Medicine Faculty Publications

High affinity methylaminoisobutyric acid(MeAIB)/glutamine(Gln) transport activity regulated by neuronal firing occurs at the plasma membrane in mature rat hippocampal neuron-enriched cultures. Spontaneous Ca2+-regulated transport activity was similarly inhibited by riluzole, a benzothiazole anticonvulsant agent, and by novel naphthalenyl substituted aminothiazole derivatives such as SKA-378. Here, we report that spontaneous transport activity is stimulated by 4-aminopyridine (4-AP) and that phorbol-myristate acetate (PMA) increases high K+ stimulated transport activity that is inhibited by staurosporine. 4-AP-stimulated spontaneous and PMA-stimulated high K+-induced transport is not present at 7 days in vitro (DIV) and is maximal by DIV∼21. The relative affinity for MeAIB is similar …


Wrist Motion Is Distinct Between Touch Screen And Manual Or Digital Devices, Mandi J. Lopez, Catherine Takawira, Mary P. Fox, Pengju Wang, Evan Boatwright, Thomas Lucak, Chin Chi Liu, Bryce Fugarino Oct 2023

Wrist Motion Is Distinct Between Touch Screen And Manual Or Digital Devices, Mandi J. Lopez, Catherine Takawira, Mary P. Fox, Pengju Wang, Evan Boatwright, Thomas Lucak, Chin Chi Liu, Bryce Fugarino

School of Medicine Faculty Publications

Background Restricted motion during touch screen device use may contribute to wrist overuse injuries. Wrist radioulnar deviation and extension while using touch screen devices and digital or manual counterparts in male and female medical professional dominant and non-dominant hands were quantified to test the hypothesis that mobile touch screen device use reduces wrist motion. Methods An active motion detection system was used to record wrist motion of 12 participants while: tablet swiping and turning book pages; raising a cell and traditional phone to the ear; texting and typing; and entering numbers on a cell phone and manual calculator. Medial and …