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2023

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Full-Text Articles in Medicine and Health Sciences

Cell-Specific Role Of Il4rα Signaling In Allergic Asthma, Ishita Choudhary Apr 2023

Cell-Specific Role Of Il4rα Signaling In Allergic Asthma, Ishita Choudhary

LSU Doctoral Dissertations

IL-4 and IL-13 play a critical role in allergic asthma pathogenesis via their common receptor, i.e., interleukin 4 receptor alpha (IL4Rα). However, the cell type-specific role of IL4Rα-mediated signaling in allergic asthma has remained unclear. We hypothesized that the role of IL4Rα signaling in allergic asthma is cell-type specific. To test our hypothesis, we challenged myeloid cell-specific IL4Rα-deficient (LysMcre+/+/IL4Rαfl/fl), myeloid cell-specific IL4Rα-sufficient (LysMcre+/+/IL4Rαwt/wt), airway epithelial cell-specific IL4Rα-deficient (CCSP-Cre+/IL4Rαfl/fl), and airway epithelial cell-specific IL4Rα-sufficient (CCSP-Cre-/IL4Rαfl/fl) mice with either mixed allergens (MA) or normal saline three …


Cardiovascular Risk Of Metabolically Healthy Obesity In Two European Populations: Prevention Potential From A Metabolomic Study, Dongmei Wei, Vannina González Marrachelli, Jesus D. Melgarejo, Chia-Te Liao, Angie Hu, Stefan Janssens, Peter Verhamme, Lucas Van Aelst, Thomas Vanassche, Josep Redon Apr 2023

Cardiovascular Risk Of Metabolically Healthy Obesity In Two European Populations: Prevention Potential From A Metabolomic Study, Dongmei Wei, Vannina González Marrachelli, Jesus D. Melgarejo, Chia-Te Liao, Angie Hu, Stefan Janssens, Peter Verhamme, Lucas Van Aelst, Thomas Vanassche, Josep Redon

School of Medicine Publications

Background

A new definition of metabolically healthy obesity (MHO) has recently been proposed to stratify the heterogeneous mortality risk of obesity. Metabolomic profiling provides clues to metabolic alterations beyond clinical definition. We aimed to evaluate the association between MHO and cardiovascular events and assess its metabolomic pattern.

Methods

This prospective study included Europeans from two population-based studies, the FLEMENGHO and the Hortega study. A total of 2339 participants with follow-up were analyzed, including 2218 with metabolomic profiling. Metabolic health was developed from the third National Health and Nutrition Examination Survey and the UK biobank cohorts and defined as systolic blood …


Metabolic Dysregulation Impairs Lymphocyte Function During Severe Sars-Cov-2 Infection, Sanjeev Gurshaney, Anamaria Morales-Alvarez, Kevin Ezhakunnel, Andrew Manalo, Thien-Huong Huynh, Nhat-Tu Le, Alessandro Sette, Daniel S Lupu, Stephen J Gardell, Hung Nguyen Apr 2023

Metabolic Dysregulation Impairs Lymphocyte Function During Severe Sars-Cov-2 Infection, Sanjeev Gurshaney, Anamaria Morales-Alvarez, Kevin Ezhakunnel, Andrew Manalo, Thien-Huong Huynh, Nhat-Tu Le, Alessandro Sette, Daniel S Lupu, Stephen J Gardell, Hung Nguyen

Faculty, Staff and Student Publications

Cellular metabolic dysregulation is a consequence of SARS-CoV-2 infection that is a key determinant of disease severity. However, how metabolic perturbations influence immunological function during COVID-19 remains unclear. Here, using a combination of high-dimensional flow cytometry, cutting-edge single-cell metabolomics, and re-analysis of single-cell transcriptomic data, we demonstrate a global hypoxia-linked metabolic switch from fatty acid oxidation and mitochondrial respiration towards anaerobic, glucose-dependent metabolism in CD8+Tc, NKT, and epithelial cells. Consequently, we found that a strong dysregulation in immunometabolism was tied to increased cellular exhaustion, attenuated effector function, and impaired memory differentiation. Pharmacological inhibition of mitophagy with mdivi-1 reduced excess glucose …


Progressive Muscle Relaxation Exercises In Patients With Covid-19: Systematic Review And Meta-Analysis Apr 2023

Progressive Muscle Relaxation Exercises In Patients With Covid-19: Systematic Review And Meta-Analysis

Faculty, Staff and Student Publications

BACKGROUND: Patients with COVID-19 will experience high levels of anxiety and depression and poor levels of sleep and quality of life (QoL) due to isolation treatment and uncertain outcomes. Progressive muscle relaxation (PMR) exercises show promising treatment effects on mental health and sleep problems and overall QoL in COVID-19 patients. This study aimed to evaluate the efficacy and safety of PMR exercises in patients with COVID-19.

METHODS: Both experimental and non-experimental studies related to PMR and COVID-19 were systematically searched in the PubMed, Cochrane Library, PEDro and HINARI databases for studies published from the occurrence of the pandemic to December …


Does Training With A Simulation Stethoscope Facilitate The Acquisition Of Cardiopulmonary Knowledge And Confidence In Doctor Of Physical Therapy Students, Archana Vatwani, Melissa Morris, Cheryl J. Hill, Alicia Fernandez-Fernandez Apr 2023

Does Training With A Simulation Stethoscope Facilitate The Acquisition Of Cardiopulmonary Knowledge And Confidence In Doctor Of Physical Therapy Students, Archana Vatwani, Melissa Morris, Cheryl J. Hill, Alicia Fernandez-Fernandez

Internet Journal of Allied Health Sciences and Practice

Purpose: The purpose of this study was to determine whether or not training with a computerized stethoscope could impact Doctor of Physical Therapy (DPT) student cardiopulmonary assessment knowledge and confidence. Methods: Eighty-seven (87) DPT students in years 2 (DPT2s, n=39) and 3 (DPT3s, n=48) participated after previously completing a cardiopulmonary course. All subjects took a baseline test and confidence survey for cardiopulmonary skills. Two weeks later, DPT2s attended a 1-hour lab session with simulation stethoscopes and did a post-test and survey. Test scores and confidence data were compared within DPT2s, and for DPT2s vs DPT3s. Results: After training, DPT2 …


Improved Super-Elastic Ti-Ni Alloy Wire For Nonsurgical Treatment Of Skeletal Class Iii Malocclusion Combined With Anterior Crowding And Anterior Crossbite Case, Po-Jui Lin, Yuan-Hou Chen, Ming-Ke Tsai, Chang-Chiang Yu, Jian-Hong Yu Apr 2023

Improved Super-Elastic Ti-Ni Alloy Wire For Nonsurgical Treatment Of Skeletal Class Iii Malocclusion Combined With Anterior Crowding And Anterior Crossbite Case, Po-Jui Lin, Yuan-Hou Chen, Ming-Ke Tsai, Chang-Chiang Yu, Jian-Hong Yu

Taiwanese Journal of Orthodontics

The article reported the use of improved super-elastic Ti-Ni alloy wire (ISW), which was developed by Tokyo Medical and Dental University, to correct a case of skeletal Class III malocclusion combined with anterior crowding and anterior crossbite. An 18-year-old male with a chief complaint of poor dental alignment and protruded lower incisors showed up in our clinic for treatment. Clinical examination revealed skeletal Class III facial profile. Anterior crowding and anterior crossbite could be also noted. Because the patient refused orthognathic surgery, we tried camouflage orthodontic treatment. First, we used ISW crossbite arch to eliminate the anterior interference in order …


Surgical-Orthodontic Treatment Of Class Iii Malocclusion With Anterior Open Bite, I-Ting Chiang, Cheng-Yu Wang, Yi-Jan Hsia, Chien-Cheng Chen, Yi-Horng Chen Apr 2023

Surgical-Orthodontic Treatment Of Class Iii Malocclusion With Anterior Open Bite, I-Ting Chiang, Cheng-Yu Wang, Yi-Jan Hsia, Chien-Cheng Chen, Yi-Horng Chen

Taiwanese Journal of Orthodontics

A 21-year-old female came with chief complaints of inability to incise food and poor esthetics. The patient presented with a concave facial profile, long face with a steep mandibular angle, incompetent lip closure, and acute nasolabial angle. Intraorally, she had negative 6 mm overjet, 3 mm open bite and dental crowding. She was diagnosed as severe skeletal Class III malocclusion and anterior open bite. The treatment plan included orthodontic treatment with orthognathic surgery and extraction of maxillary second molars, which were supra-erupted and tipped buccally. The pre-operative orthodontic alignment took 11 months. The surgical correction included maxillary Le Fort I …


Treatment Of Class Iii Malocclusion With Facial Asymmetry And Impacted Second Molar: A Case Report, Wei-Yu Chen, Chen-Jung Chang, Jen-Bang Lo, Pei-Ju Wu, Tung-Yiu Wong Apr 2023

Treatment Of Class Iii Malocclusion With Facial Asymmetry And Impacted Second Molar: A Case Report, Wei-Yu Chen, Chen-Jung Chang, Jen-Bang Lo, Pei-Ju Wu, Tung-Yiu Wong

Taiwanese Journal of Orthodontics

Symmetry is an important factor affecting facial attractiveness. The majority of subjects with facial asymmetry also exhibit Class III (CIII) malocclusion. However, the method used for three-dimensional analysis of facial asymmetry remains controversial. The optimal symmetry plane (OSP) method was developed to eliminate the identification errors that occur when using traditional orthodontic landmarks. Orthodontic treatment can become complicated in the presence of mandibular second molar impaction. Several parameters should be taken into consideration during the treatment planning, such as position of impacted tooth relative to anatomical structures and adjacent tooth and preexisting conditions in the impacted teeth. In this report, …


Treatment Strategy Of Mandibular Second Molar Impaction: A Literature Review, Heng-Tzu Shen, Johnson Hsin-Chung Cheng, Daniel De-Shing Chen Apr 2023

Treatment Strategy Of Mandibular Second Molar Impaction: A Literature Review, Heng-Tzu Shen, Johnson Hsin-Chung Cheng, Daniel De-Shing Chen

Taiwanese Journal of Orthodontics

Purpose: This literature review aimed to investigate the treatment consideration and strategy of mandibular second molar (MM2) comprehensively, which can be of great assistance on managing and solving such a rare disturbance. Methods: Previous studies were identified in PubMed or Embase database using the keywords “orthodontic,” “molar impaction,” and “uprighting molar.” To enrich the contents of every aspect of the topic, other several related articles were also reviewed and included. Results: Forty-six articles were included and systematically discussed in this review, which were arranged according to prevalence, etiology, diagnosis, treatment strategy, and clinical methods. The incidence of MM2 impaction is …


Transverse Malocclusions: Etiology, Development, Diagnosis And Treatment, Ib Leth Nielsen Apr 2023

Transverse Malocclusions: Etiology, Development, Diagnosis And Treatment, Ib Leth Nielsen

Taiwanese Journal of Orthodontics

Malocclusions that involve the transverse dimension are very common in the orthodontic office. They can be as simple as a crossbite of the posterior teeth or as severe as a Class III malocclusion with a mandibular asymmetry. Transverse malocclusions can vary from being a simple dento-alveolar problem to a more complex challenge as represented by a skeletal asymmetry that has developed after puberty and causing temporomandibular disorder (TMD) problems. In this review we shall address the most common types of transverse malocclusions and review their etiology and development. The most typical etiology of transverse anomalies will be discussed, and we …


Medical School Watercooler Newsletter - April 6, 2023, Lindsey Lyle Apr 2023

Medical School Watercooler Newsletter - April 6, 2023, Lindsey Lyle

Watercooler Newsletter

This is the April 6, 2023 edition of the Frederick P. Whiddon College of Medicine's newsletter - Watercooler.

Contents include:

  • USA health launches urology residency program
  • Save the dates: Class of 2023 hooding and commencement ceremonies
  • USA hosts 12th annual gulf coast Trauma Symposium
  • First-ever Brain Awareness Week a Success


2023-04-06_Michiganoverview_Misc, Michigan Department Of Health & Human Services Apr 2023

2023-04-06_Michiganoverview_Misc, Michigan Department Of Health & Human Services

Michigan COVID-19 MIS-C Data

The MIS-C Data page was obtained from Michigan's COVID-19 data page: https://www.michigan.gov/coronavirus/stats/mis-c-reporting.

This report is created by the Michigan Department of Health & Human Services from data self-reported by health care providers and local health departments. Data is updated on the first and third Thursdays of the month.

Multisystem Inflammatory Syndrome in Children (MIS-C) is a condition in children and adolescents under 21 years of age where multiple organ systems become inflamed or dysfunctional which occurs in association with illness. Children with MIS-C may have a fever and various symptoms, including abdominal (gut) pain, vomiting, diarrhea, neck pain, rash, …


Building A Brighter Future: Developing Function Out Of Dysfunction, Adrian Ewald Apr 2023

Building A Brighter Future: Developing Function Out Of Dysfunction, Adrian Ewald

OTD Capstone Projects

This doctoral capstone project was completed in partnership with REBOOT Recovery, a non-profit organization dedicated to providing trauma healing through faith-based, peer-led courses. The purpose of this project was to develop content to supplement the existing 12-week courses that emphasized participation in instrumental activities of daily living (IADLs) and life roles. The project was titled “Week 13” within the organization, which consisted of content areas of emotional regulation, education on access to clinical care for mental health needs, financial management, social relationships, and decision-making skills. Content within these areas included reflective questions, calls-to-action, and fillable worksheet templates. Additional content was …


The Need For Sharps Boxes To Be Offered In The Hospital Setting For People Who Use Substances: Removing Sharps Boxes Puts All Of Us At Risk., Cheryl Forchuk, Michael Silverman, Abraham Rudnick, Jonathan Serrato, Brenna Schmitt, Leanne Scott Apr 2023

The Need For Sharps Boxes To Be Offered In The Hospital Setting For People Who Use Substances: Removing Sharps Boxes Puts All Of Us At Risk., Cheryl Forchuk, Michael Silverman, Abraham Rudnick, Jonathan Serrato, Brenna Schmitt, Leanne Scott

Nursing Publications

INTRODUCTION: Substance use can occur in the hospital setting among people with substance use disorder, including intravenous use. However, the provision of sharps boxes is not typically offered in Canadian hospitals. This study set out to explore the current issues due to the lack of harm reduction in the hospital setting.

METHOD: Thirty-one health care professionals participated in virtual one-to-one interviews and focus groups regarding harm reduction in hospital. The issue of sharps box removal was highlighted as a concern. A secondary ethnographic thematic analysis explored this theme in more detail. A scoping review of the literature observed additional considerations. …


Center For Courageous Kids Volunteer Training Resources And “Through Our Eyes” Video, Megan M. Cusick Apr 2023

Center For Courageous Kids Volunteer Training Resources And “Through Our Eyes” Video, Megan M. Cusick

OTD Capstone Projects

This doctoral capstone was completed through a partnership with the Center for Courageous Kids in Scottsville, KY. Center for Courageous Kids is a fully accessible medical camp that provides children with serious illnesses and medical complexities the opportunity to participate in camp. They run weekend family retreats during the spring and fall, and independent camps during the summer. The goals of this project were completed in two parts. Part 1: To create a video to play during family camp weekend retreats to reach potential campers for independent summer camp. The video portrays what summer camp is all about through the …


2023-04-06 Michiganoverview_Covidoutbreak, Michigan Department Of Health & Human Services Apr 2023

2023-04-06 Michiganoverview_Covidoutbreak, Michigan Department Of Health & Human Services

Michigan COVID-19 Outbreak Reports

The Outbreak Data page was obtained from Michigan's COVID-19 data page: https://www.michigan.gov/coronavirus/stats/outbreak-reporting.

This report is created by the Michigan Department of Health & Human Services from data self-reported by local health departments. Data is updated every week.

COVID-19 outbreaks are generally defined as two or more cases with a link by place and time indicating a shared exposure outside of a household. Local health departments report the number of new and ongoing outbreaks they are investigating by the setting of the outbreak. New outbreaks are those outbreaks that were first identified during the current reporting week. Ongoing outbreaks are …


A Projectile Concussive Impact Model Produces Neuroinflammation In Both Mild And Moderate-Severe Traumatic Brain Injury., Lindsay T Michalovicz, Kimberly A Kelly, Travis J. A. Craddock, James P O'Callaghan Apr 2023

A Projectile Concussive Impact Model Produces Neuroinflammation In Both Mild And Moderate-Severe Traumatic Brain Injury., Lindsay T Michalovicz, Kimberly A Kelly, Travis J. A. Craddock, James P O'Callaghan

HPD Articles

Traumatic brain injury (TBI) is a major cause of death and disability and is experienced by nearly 3 million people annually as a result of falls, vehicular accidents, or from being struck by or against an object. While TBIs can range in severity, the majority of injuries are considered to be mild. However, TBI of any severity has the potential to have long-lasting neurological effects, including headaches, cognitive/memory impairments, mood dysfunction, and fatigue as a result of neural damage and neuroinflammation. Here, we modified a projectile concussive impact (PCI) model of TBI to deliver a closed-head impact with variable severity …


Implementation Of A Code Lobby Surge And The Impact On Left Without Being Seen Rates, Nicole Plouffe Apr 2023

Implementation Of A Code Lobby Surge And The Impact On Left Without Being Seen Rates, Nicole Plouffe

Student Scholarly Projects

Practice Problem: Crowding of emergency departments contribute to higher-than-average left without being seen (LWBS) rates. LWBS patients pose risks to the hospital as well as to one’s own health.

PICOT: The PICOT question that guided this project was in a pediatric emergency department (P), does implementation of a “Code Lobby Surge” (I), compared to standard care (C), decrease left without being seen rates (O) within eight weeks (T)?

Evidence: Surge interventions and decreasing the visual of crowding have shown to decrease LWBS rates.

Intervention: “Code Lobby Surge” was implemented to decrease LWBS rates and improve throughput within the …


Upregulation Of Cell Surface Glycoproteins In Correlation With Kshv Lana In The Kaposi Sarcoma Tumor Microenvironment, Sara R. Privatt, Owen Ngalamika, Jianshui Zhang, Qinsheng Li, Charles Wood, John T. West Apr 2023

Upregulation Of Cell Surface Glycoproteins In Correlation With Kshv Lana In The Kaposi Sarcoma Tumor Microenvironment, Sara R. Privatt, Owen Ngalamika, Jianshui Zhang, Qinsheng Li, Charles Wood, John T. West

School of Medicine Faculty Publications

HIV-associated epidemic Kaposi sarcoma (EpKS) remains one of the most prevalent cancers in sub-Saharan Africa despite the widespread uptake of anti-retroviral therapy and HIV-1 suppression. In an effort to define potential therapeutic targets against KS tumors, we analyzed previously published KS bulk tumor transcriptomics to identify cell surface biomarkers. In addition to upregulated gene expression (>6-fold) in the EpKS tumor microenvironment, biomarkers were selected for correlation with KSHV latency-associated nuclear antigen (LANA) expression. The cell surface glycoprotein genes identified were KDR, FLT4, ADAM12, UNC5A, ZP2, and OX40, as well as the endothelial lineage determinants Prox-1 and CD34. Each protein …


Factor Xa Cleaves Sars-Cov-2 Spike Protein To Block Viral Entry And Infection, Wenjuan Dong, Sean P J Whelan, Et Al. Apr 2023

Factor Xa Cleaves Sars-Cov-2 Spike Protein To Block Viral Entry And Infection, Wenjuan Dong, Sean P J Whelan, Et Al.

2020-Current year OA Pubs

Serine proteases (SP), including furin, trypsin, and TMPRSS2 cleave the SARS-CoV-2 spike (S) protein, enabling the virus to enter cells. Here, we show that factor (F) Xa, an SP involved in blood coagulation, is upregulated in COVID-19 patients. In contrast to other SPs, FXa exerts antiviral activity. Mechanistically, FXa cleaves S protein, preventing its binding to ACE2, and thus blocking viral entry and infection. However, FXa is less effective against variants carrying the D614G mutation common in all pandemic variants. The anticoagulant rivaroxaban, a direct FXa inhibitor, inhibits FXa-mediated S protein cleavage and facilitates viral entry, whereas the indirect FXa …


Sphingomyelin 16:0 Is A Therapeutic Target For Neuronal Death In Acid Sphingomyelinase Deficiency, Ángel Gaudioso, Xuntian Jiang, Josefina Casas, Edward H Schuchman, María Dolores Ledesma Apr 2023

Sphingomyelin 16:0 Is A Therapeutic Target For Neuronal Death In Acid Sphingomyelinase Deficiency, Ángel Gaudioso, Xuntian Jiang, Josefina Casas, Edward H Schuchman, María Dolores Ledesma

2020-Current year OA Pubs

Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder caused by mutations in the SMPD1 gene encoding for the acid sphingomyelinase (ASM). While intravenous infusion of recombinant ASM is an effective treatment for the peripheral disease, the neurological complications of ASMD remain unaddressed. It has been shown that aberrantly high level of total brain sphingomyelin (SM) is a key pathological event leading to neurodegeneration. Using mice lacking ASM (ASMko), which mimic the disease, we here demonstrate that among the SM species, SM16:0 shows the highest accumulation and toxicity in ASMko neurons. By targeting lysosomes, SM16:0 causes permeabilization and exocytosis of …


Perspectives Of Fieldwork Educators: The Relationship Between Emotional Competence And Occupational Therapy Level Ii Fieldwork Success, Kathleen Hughes-Butcher Apr 2023

Perspectives Of Fieldwork Educators: The Relationship Between Emotional Competence And Occupational Therapy Level Ii Fieldwork Success, Kathleen Hughes-Butcher

Doctor of Education Program Dissertations

Emotional competence encompasses multiple skills and attributes that are essential to success of occupational therapy level II fieldwork. Learning more about the relationship between emotional competence and level II fieldwork success holds implications for occupational therapy students, academic programs, fieldwork educators and recipients of occupational therapy services. The Emotional Competence Theory of Mikolajczak (2009) guided the conceptual foundation of this study. This qualitative study, using a phenomenological approach, explored the relationship between emotional competence and level II fieldwork success from the perspective of fieldwork educators. Purposeful sampling was utilized to recruit the three occupational therapists who serve as fieldwork educators …


Measuring The Effect Of A Poverty Simulation On Cultivating Empathy In Healthcare Professions Students, H. Alex Hoyen Apr 2023

Measuring The Effect Of A Poverty Simulation On Cultivating Empathy In Healthcare Professions Students, H. Alex Hoyen

Master of Science in Population Health Capstone Presentations

Introduction: Poverty is generally defined on a fiscal metric despite the fact that it disrupts every facet of a patient’s life. The United Nations (UN) recently published its campaign focused on Ending Poverty. In this publication, the UN describes poverty as “entailing more than the lack of income and productive resources to ensure sustainable livelihoods.” The manifestations include hunger, safe housing, transportation, education, and social discrimination. To fully appreciate the effects of conditions such as poverty requires a deeper understanding of the complex social environment that impoverished individuals are forced to navigate. Poverty simulations are one practice to provide a …


The Polypharmacological Effects Of Cannabidiol, Jorge Castillo-Arellano, Ana Canseco-Alba, Stephen J. Cutler Ph.D., Francisco León Ph.D. Apr 2023

The Polypharmacological Effects Of Cannabidiol, Jorge Castillo-Arellano, Ana Canseco-Alba, Stephen J. Cutler Ph.D., Francisco León Ph.D.

Faculty Publications

Cannabidiol (CBD) is a major phytocannabinoid present in Cannabis sativa (Linneo, 1753). This naturally occurring secondary metabolite does not induce intoxication or exhibit the characteristic profile of drugs of abuse from cannabis like Δ9-tetrahydrocannabinol (∆9-THC) does. In contrast to ∆9-THC, our knowledge of the neuro-molecular mechanisms of CBD is limited, and its pharmacology, which appears to be complex, has not yet been fully elucidated. The study of the pharmacological effects of CBD has grown exponentially in recent years, making it necessary to generate frequently updated reports on this important metabolite. In this article, a …


Incidence Of Cutaneous Melanoma And Merkel Cell Carcinoma In Patients With Primary Cutaneous B-Cell Lymphomas: A Population Study Of The Seer Registry, Lauren Banner, Daniel Joffe, Emily Lee, Pierluigi Porcu, Neda Nikbakht Apr 2023

Incidence Of Cutaneous Melanoma And Merkel Cell Carcinoma In Patients With Primary Cutaneous B-Cell Lymphomas: A Population Study Of The Seer Registry, Lauren Banner, Daniel Joffe, Emily Lee, Pierluigi Porcu, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

Introduction: The increased incidence of cutaneous melanoma (CM) and Merkel cell carcinoma (MCC) in patients with hematologic malignancies (HM) is well established. While the risk of CM has been assessed in some subtypes of HM including cutaneous T-cell lymphoma, the incidence in patients with primary cutaneous B-cell lymphoma (PCBCL) has not been interrogated.

Methods: Here we evaluated the standardized incidence ratio (SIR) of CM and MCC in 5,179 PCBCL patients compared to approximately 1.5 billion individuals in the general population using the Surveillance, Epidemiology and End Results (SEER) database. Among patients with PCBCL, we identified subgroups that were at increased …


Geriatric Depression Screening And Chief Complaint: What Is The Risk For 30- And 90-Day Readmission?, Eric James, Joan Michelle Moccia, Victoria Lucia Apr 2023

Geriatric Depression Screening And Chief Complaint: What Is The Risk For 30- And 90-Day Readmission?, Eric James, Joan Michelle Moccia, Victoria Lucia

Journal of Geriatric Emergency Medicine

Abstract

Background:

Readmission to the hospital within 30-days has a high cost and represents a gap in care for older adults. Older adults are at significant risk for depression, particularly given their medical comorbidities and social factors such as isolation due to SARS-CoV-2. Many patients who screen positive for depression may have no known history of depression. This investigation examines the relationship between a positive geriatric depression screen and chief complaint as a function of 30- and 90-day readmission risk.

Methods:

We examined the electronic medical record of 329 older adults aged 65 and older from February 1, 2020, to …


Bi-Allelic Snapc4 Variants Dysregulate Global Alternative Splicing And Lead To Neuroregression And Progressive Spastic Paraparesis, Lyse Ruaud, Newell Belnap, Daniel G Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M Oud, Elise A Ferreira, Vinodh Narayanan, Sampath Rangasamy, Matt Huentelman, Lisa T Emrick, Ikuko Sato-Shirai, Satoko Kumada, Nicole I Wolf, Peter J Steinbach, Yan Huang, Undiagnosed Diseases Network, Barbara N Pusey, Sandrine Passemard, Jonathan Levy, Séverine Drunat, Marie Vincent, Agnès Guet, Emanuele Agolini, Antonio Novelli, Maria Cristina Digilio, Jill A Rosenfeld, Jennifer L Murphy, James R Lupski, Gilbert Vezina, Ellen F Macnamara, David R Adams, Maria T Acosta, Cynthia J Tifft, William A Gahl, May Christine V Malicdan Apr 2023

Bi-Allelic Snapc4 Variants Dysregulate Global Alternative Splicing And Lead To Neuroregression And Progressive Spastic Paraparesis, Lyse Ruaud, Newell Belnap, Daniel G Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M Oud, Elise A Ferreira, Vinodh Narayanan, Sampath Rangasamy, Matt Huentelman, Lisa T Emrick, Ikuko Sato-Shirai, Satoko Kumada, Nicole I Wolf, Peter J Steinbach, Yan Huang, Undiagnosed Diseases Network, Barbara N Pusey, Sandrine Passemard, Jonathan Levy, Séverine Drunat, Marie Vincent, Agnès Guet, Emanuele Agolini, Antonio Novelli, Maria Cristina Digilio, Jill A Rosenfeld, Jennifer L Murphy, James R Lupski, Gilbert Vezina, Ellen F Macnamara, David R Adams, Maria T Acosta, Cynthia J Tifft, William A Gahl, May Christine V Malicdan

Faculty, Staff and Students Publications

The vast majority of human genes encode multiple isoforms through alternative splicing, and the temporal and spatial regulation of those isoforms is critical for organismal development and function. The spliceosome, which regulates and executes splicing reactions, is primarily composed of small nuclear ribonucleoproteins (snRNPs) that consist of small nuclear RNAs (snRNAs) and protein subunits. snRNA gene transcription is initiated by the snRNA-activating protein complex (SNAPc). Here, we report ten individuals, from eight families, with bi-allelic, deleterious SNAPC4 variants. SNAPC4 encoded one of the five SNAPc subunits that is critical for DNA binding. Most affected individuals presented with delayed motor development …


Bi-Allelic Variants In The Esam Tight-Junction Gene Cause A Neurodevelopmental Disorder Associated With Fetal Intracranial Hemorrhage, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R Lupski, Edoardo Errichiello Apr 2023

Bi-Allelic Variants In The Esam Tight-Junction Gene Cause A Neurodevelopmental Disorder Associated With Fetal Intracranial Hemorrhage, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R Lupski, Edoardo Errichiello

Faculty, Staff and Students Publications

The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in thirteen individuals, including four fetuses, from eight unrelated families associated with homozygous loss-of-function variant alleles of ESAM which encodes an endothelial cell adhesion molecule. The c.115del (p.Arg39Glyfs∗33) variant, identified in six individuals from four independent families of Southeastern Anatolia, severely impaired the in vitro tubulogenic process of endothelial colony-forming cells, recapitulating previous evidence in null mice, and caused lack of ESAM expression in …


Chemical Reprogramming Takes The Fast Lane Apr 2023

Chemical Reprogramming Takes The Fast Lane

Faculty, Staff and Students Publications

Small molecule-induced cell fate transitions are characterized by low efficiency and slow kinetics. An optimized chemical reprogramming approach now facilitates the robust and rapid conversion of somatic cells to pluripotent stem cells, unlocking exciting avenues to study and manipulate human cell identity.


A Dynamic Risk Model For Multitype Recurrent Events Apr 2023

A Dynamic Risk Model For Multitype Recurrent Events

Faculty, Staff and Student Publications

Recurrent events can occur more than once in the same individual; such events may be of different types, known as multitype recurrent events. They are very common in longitudinal studies. Often there is a terminating event, after which no further events can occur. The risk of any event, including terminating events such as death or cure, is typically affected by prior events. We propose a flexible joint multitype recurrent-events model that explicitly provides estimates of the change in risk for each event due to subject characteristics, including number and type of prior events and the absolute risk for every event …