Medical Specialties Commons^™

Disease Progression Of Whim Syndrome In An International Cohort Of 66 Pediatric And Adult Patients, Christoph B Geier, Maryssa Ellison, Rachel Cruz, Sumit Pawar, Alexander Leiss-Piller, Katarina Zmajkovicova, Shannon M Mcnulty, Melis Yilmaz, Martin Oman Evans, Sumai Gordon, Boglarka Ujhazi, Ivana Wiest, Hassan Abolhassani, Asghar Aghamohammadi, Sara Barmettler, Saleh Bhar, Anastasia Bondarenko, Audrey Anna Bolyard, David Buchbinder, Michaela Cada, Mirta Cavieres, James A Connelly, David C Dale, Ekaterina Deordieva, Morna J Dorsey, Simon B Drysdale, Stephan Ehl, Reem Elfeky, Francesca Fioredda, Frank Firkin, Elizabeth Förster-Waldl, Bob Geng, Vera Goda, Luis Gonzalez-Granado, Eyal Grunebaum, Elzbieta Grzesk, Sarah E Henrickson, Anna Hilfanova, Mitsuteru Hiwatari, Chihaya Imai, Winnie Ip, Soma Jyonouchi, Hirokazu Kanegane, Yuta Kawahara, Amer M Khojah, Vy Hong-Diep Kim, Marina Kojić, Sylwia Kołtan, Gergely Krivan, Daman Langguth, Yu-Lung Lau, Daniel Leung, Maurizio Miano, Irina Mersyanova, Talal Mousallem, Mica Muskat, Flavio A Naoum, Suzie A Noronha, Monia Ouederni, Shuichi Ozono, G Wendell Richmond, Inga Sakovich, Ulrich Salzer, Catharina Schuetz, Filiz Odabasi Seeborg, Svetlana O Sharapova, Katja Sockel, Alla Volokha, Malte Von Bonin, Klaus Warnatz, Oliver Wegehaupt, Geoffrey A Weinberg, Ke-Juin Wong, Austen Worth, Huang Yu, Yulia Zharankova, Xiaodong Zhao, Lisa Devlin, Adriana Badarau, Krisztian Csomos, Marton Keszei, Joao Pereira, Arthur G Taveras, Sarah L Beaussant-Cohen, Mei-Sing Ong, Anna Shcherbina, Jolan E Walter

Faculty, Staff and Students Publications

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct CXCR4 genetic variants within our cohort, 11 were novel pathogenic variants affecting 15 individuals (23%). All variants affect the same CXCR4 region and impair CXCR4 internalization resulting in hyperactive signaling. The median age of diagnosis in our cohort (5.5 years) indicates WHIM syndrome can commonly present in childhood, although some patients are not …

Clinical Exome Sequencing Uncovers A High Frequency Of Mendelian Disorders In Infants With Stroke: A Retrospective Analysis, Runjun D Kumar, Linyan Meng, Pengfei Liu, Christina Y Miyake, Kim C Worley, Weimin Bi, Seema R Lalani

Faculty, Staff and Students Publications

Background:

Stroke causes significant disability and is a common cause of death worldwide. Previous studies have estimated that 1-5% of stroke is attributable to monogenic etiologies. We set out to assess the utility of clinical exome sequencing (ES) in the evaluation of stroke.

Methods:

We retrospectively analyzed 124 individuals who received ES at the Baylor Genetics reference lab between 2012 and 2021 who had stroke as a major part of their reported phenotype.

Results:

Ages ranged from 10 days to 69 years. 8.9% of the cohort received a diagnosis, including 25% of infants less than 1 year old; an additional …

Impact Of Udenafil On Echocardiographic Indices Of Single Ventricle Size And Function In Fuel Study Participants, Michael V Di Maria, David J Goldberg, Victor Zak, Chenwei Hu, Adam M Lubert, Andreea Dragulescu, Andrew S Mackie, Andrew Mccrary, Angela Weingarten, Anitha Parthiban, Benjamin Goot, Bryan H Goldstein, Carolyn Taylor, Christopher Lindblade, Christopher J Petit, Christopher Spurney, David M Harrild, Elaine M Urbina, Eleanor Schuchardt, Gi Beom Kim, Ja Kyoung Yoon, Jamie N Colombo, Matthew D Files, Megan Schoessling, Peter Ermis, Pierre C Wong, Ruchira Garg, Sara K Swanson, Shaji C Menon, Shubhika Srivastava, Thor Thorsson, Tiffanie R Johnson, Usha S Krishnan, Stephen M Paridon, Peter C Frommelt

Faculty, Staff and Students Publications

BACKGROUND: The FUEL trial (Fontan Udenafil Exercise Longitudinal) demonstrated statistical improvements in exercise capacity following 6 months of treatment with udenafil (87.5 mg po BID). The effect of udenafil on echocardiographic measures of single ventricle function in this cohort has not been studied.

METHODS: The 400 enrolled participants were randomized 1:1 to udenafil or placebo. Protocol echocardiograms were obtained at baseline and 26 weeks after initiation of udenafil/placebo. Linear regression compared change from baseline indices of single ventricle systolic, diastolic and global function, atrioventricular valve regurgitation, and mean Fontan fenestration gradient in the udenafil cohort versus placebo, controlling for ventricular …

Cardiac Size, Shape, And Ventricular Contractility In Fetuses At Sea Level With An Estimated Weight Less-Than 10th Centile, Wesley Lee, Lauren M Mack, Roxanna Miremadi, Betul Yilmaz Furtun, Haleh Sangi-Haghpeykar, Greggory R Devore

Faculty, Staff and Students Publications

OBJECTIVES: To investigate cardiac size, shape, and ventricular contractility in fetuses with estimated fetal weight (EFW)(Houston).

METHODS: A prospective ultrasound study examined 37 fetuses with EFWsize, shape, and contractility of both ventricles were analyzed with speckle tracking methods. Z scores were calculated using the mean ± standard deviation (SD) derived from normal controls. Measurements were abnormal if their Z score values were+1.65. The proportion of small fetuses with abnormal parameters was compared to normal reference ranges. Results were compared to a similar published study of small fetuses at higher altitude in Denver.

RESULTS: About one-third of Houston fetuses with EFW(RV) …

The Roles Of Sleep And Eating Patterns In Adiposity Gain Among Preschool-Aged Children, Amy R Goetz, Ishita Jindal, Jennette P Moreno, Maurice R Puyau, Anne L Adolph, Salma Musaad, Nancy F Butte, Fida Bacha

Faculty, Staff and Students Publications

BACKGROUND: Short sleep durations are related to risks for obesity in preschool children. However, the underlying mechanism or mechanisms are not clear.

OBJECTIVES: We evaluated the relationships between sleep characteristics and body composition, energetics, and weight-regulating behaviors in preschool-aged children, as well as the longitudinal associations between children's sleep and eating patterns and body composition at a 1-year follow-up.

METHODS: Data were drawn from a longitudinal study of 118 children aged 3-5 years. Sleep (duration, midpoint, regularity) and physical activity (PA) were measured by accelerometry over 6 consecutive days; total energy expenditure (TEE) was measured using the doubly labeled water …

Relationship Between Obstructive Sleep Apnea And Balance On Computerized Dynamic Posturography, Meha G Fox, Helen S Cohen, Haleh Sangi-Haghpeykar, Masayoshi Takashima

Faculty, Staff and Students Publications

BACKGROUND: Obstructive sleep apnea (OSA) leads to chronic sleep deprivation. The relationship between OSA and balance is poorly understood.

AIM/OBJECTIVE: This study aimed to determine if OSA adversely affects standing balance.

MATERIAL AND METHODS: Adults with a clinically indicated polysomnogram (PSG) diagnostic of OSA, who were not on therapy, were recruited from an academic tertiary care referral clinic. Subjects completed the Epworth Sleepiness Scale (ESS), the Stanford Sleepiness Scale (SSS), and the STOP-BANG questionnaire (SBQ). Their balance was tested with the Sensory Organization Test (SOT) of computerized dynamic posturography (CDP).

RESULTS: Sixteen subjects participated in the study, including three with …

A Reactivation Of Ocular Toxoplasmosis During Pregnancy, Brett Garee Od, Ms, Sarah Dieter Od, Pete Liette Od

Optometric Clinical Practice

Background: Toxoplasma gondii is a parasite estimated to affect over 500 million people worldwide. The feline is the definitive host for the parasite and infection may be acquired or congenital via maternal transmission. Humans may acquire the infection by ingestion of raw or undercooked meats and vegetables, contaminated water, or exposure to infected cat feces. The infection is often benign, self-limiting, and asymptomatic for humans, but potentially life threatening to infants or the immunocompromised patient.

Case Report: A 22 year-old Caucasian female, pregnant at 12 weeks gestation, presented to the optometry service with acute symptoms of hazy vision …

Spontaneous Pneumothorax: A Rare Complication Of Neurofibromatosis Type 1 Associated Diffuse Lung Disease, Emma I. Sherfinski, Mark H. Cooper Md, Phd

Marshall Journal of Medicine

The visually striking neurocutaneous findings of neurofibromatosis type 1 (NF1) are well recognized and have been well documented throughout scientific literature. While not uncommon, the pulmonary manifestations of NF1 are unknown to many physicians. Complications of NF1 associated diffuse lung disease (NF-DLD) include pulmonary hypertension, pulmonary artery stenosis, subpleural cysts, and spontaneous pneumothorax. We present a case of a 34-year-old male with NF-DLD found incidentally in adolescence with previous apical bleb repair, presenting nearly twenty years later with spontaneous pneumothorax. In NF1 patients with pulmonary complaints, NF-DLD should be assessed with computed tomography (CT) and physicians should be familiar with …

Chronic Cavitary Pulmonary Aspergillosis: An Unusual Cause Of Chronic Cough, Pleuritic Chest Pain, And Hemoptysis In A 24-Year-Old Coal Mine Worker, Emma I. Sherfinski, Emily J. Vore, Mark H. Cooper Md, Phd, Peimei He Md

Marshall Journal of Medicine

Pulmonary Aspergillus infections are caused by the ubiquitous fungus mold when spores found in compost, dust, and plant material are inhaled. Manifestation of the disease is represented by a delicate balance between host and pathogen interactions, making Aspergillus infection more commonly observed in immunocompromised individuals. Chronic cavitary pulmonary aspergillosis (CCPA) is a subtype of pulmonary Aspergillosis associated with history of chronic or prior lung disease. Here we present the case of a non-immunocompromised 24-year-old male with a history of intermittent asthma with chronic pulmonary symptoms and finding of a lung mass on imaging. We describe the diagnostic challenge and surgical …

Pleomorphic Dermal Sarcoma: A Clinical And Histopathologic Emulator Of Atypical Fibroxanthoma, But Different Biologic Behavior, Michael Carletti, Daniel A. Nguyen, Peter Malouf, Zachary Ingersoll, Gregory A. Hosler, Stephen E. Weis

HCA Healthcare Journal of Medicine

Pleomorphic dermal sarcoma (PDS) can clinically and histopathologically mimic atypical fibroxanthoma (AFX). However, it has a more aggressive clinical course with a higher recurrence rate and metastatic potential. This case presentation aims to report a rapidly-growing, exophytic, 4 cm tumor following a non-diagnostic shave biopsy 2 months prior and to highlight distinctive features between PDS and AFX needed to make the correct diagnosis. Like AFX, PDS occurs on the sun-damaged skin of the elderly, usually on the head and neck. Also, like AFX, PDS histopathologically consists of sheets or fascicles of epithelioid and/or spindle-shaped cells, often with multinucleation, pleomorphism, and …

Evaluation Of Allogeneic And Autologous Membrane-Bound Il-21-Expanded Nk Cells For Chronic Lymphocytic Leukemia Therapy, Max Yano, Chia Sharpe, J Rachel Lance, Janani Ravikrishnan, Kevan Zapolnik, Xiaokui Mo, Jennifer A Woyach, Deepa Sampath, Adam S Kittai, Sumithira Vasu, Seema Bhat, Kerry A Rogers, Dean A Lee, Natarajan Muthusamy, John C Byrd

Faculty, Staff and Student Publications

Successes with anti-CD20 antibodies in chronic lymphocytic leukemia (CLL) and enhanced activity of Fc-engineered vs unmodified antibody therapy suggest a potentially impactful role for natural killer (NK) cells and other innate immune cells in controlling this disease. Stimulated NK cells have shown promise as a cellular therapy, but their application has been constrained by limited expansion capacity and low cytotoxic activity against CLL cells. Here, we demonstrate that both healthy donor-derived and CLL patient-derived NK cells expand rapidly when stimulated with feeder cells expressing membrane-bound interleukin-21 (mbIL-21) and have potent cytotoxic activity against allogeneic or autologous CLL cells. Combination with …

A Cop1-Gata2 Axis Suppresses Ar Signaling And Prostate Cancer, Tao Shen, Bingning Dong, Yanling Meng, David D Moore, Feng Yang

Faculty, Staff and Students Publications

Androgen receptor (AR) signaling is crucial for driving prostate cancer (PCa), the most diagnosed and the second leading cause of death in male patients with cancer in the United States. Androgen deprivation therapy is initially effective in most instances of AR-positive advanced or metastatic PCa. However, patients inevitably develop lethal castration-resistant PCa (CRPC), which is also resistant to the next-generation AR signaling inhibitors. Most CRPCs maintain AR expression, and blocking AR signaling remains a main therapeutic approach. GATA2 is a pioneer transcription factor emerging as a key therapeutic target for PCa because it promotes AR expression and activation. While directly …

14-3-3Τ Drives Estrogen Receptor Loss Via Erα36 Induction And Gata3 Inhibition In Breast Cancer, Lidija A Wilhelms Garan, Yang Xiao, Weei-Chin Lin

Faculty, Staff and Students Publications

About one-fourth of recurrent estrogen receptor-positive (ER+) breast cancers lose ER expression, leading to endocrine therapy failure. However, the mechanisms underlying ER loss remain to be fully explored. We now show that 14-3-3τ, up-regulated in ∼60% of breast cancer, drives the conversion of ER+ to ER- and epithelial-to-mesenchymal transition (EMT). We identify ERα36, an isoform of ERα66, as a downstream effector of 14-3-3τ. Overexpression of 14-3-3τ induces ERα36 in xenografts and tumor spheroids. The regulation is further supported by a positive correlation between ERα36 and 14-3-3τ expression in human breast cancers. ERα36 can antagonize ERα66 and inhibit ERα66 expression. Isoform-specific …

Nasal Surgery Versus Pharyngeal Surgery In The Treatment Of Obstructive Sleep Apnea, Ruxandra Oana Alius, Viorel Zainea, Catalina Voiosu, Irina Gabriela Ionita, Andreea Rusescu, Oana Denisa Balalau, Catalin Alius, Raluca Oana Pulpa, Razvan Hainarosie

Journal of Mind and Medical Sciences

The endemic spread of obesity and unhealthy behaviors of modern society led to revisiting the real prevalence related to obstructive sleep apnea. Recent data support a paradigm shift towards individually tailored treatments which include functional surgery of the upper airways. This paper presents the results of a randomized interventional, prospective study on 68 patients referred by the general practitioner for obstructive sleep apnea. The eligible cohort consisted of 28 patients who were offered functional surgery for definitive relief of obstructive symptoms. After topographic diagnosis of the obstruction site and grading of the severity of the obstructive sleep apnea, the eligible …

Clinical And Biological Factors With Prognostic Value In Acute Pancreatitis, Mihai Faur, Dan Dumitrescu, Dan Sabau, Ciprian Tanasescu, Dan Cretu, Denisa Tanasescu, Vlad Denis Constantin, Calin Mohor

Journal of Mind and Medical Sciences

Acute pancreatitis is an acute inflammatory process of the pancreas, which can remain localized at the level of the gland or can extend to the peripancreatic and retroperitoneal tissues. The use and interpretation of paraclinical examinations at the onset can predict the form of evolution of acute pancreatitis (mild or severe). Depending on the evolution, these data are useful in determining the type of surgical intervention that might be necessary based on severity.

We present a retrospective study consisting of 118 patients diagnosed and hospitalized with acute pancreatitis during 2016-2020 in the Surgery I section of the Sibiu County Emergency …

Innovative Therapeutic Approach To Chemical Burns Produced By Vesicants; An Experimental Study, Cristina Anca Secara, Otilia Liudmila Cinteza, Diana Popescu, Claudia Valentina Popa, Camelia Andreea Hirjeu, Oana Cristina Voinea, Luiza Georgia Serbanescu, Andreea Marilena Pauna, Mihail Tudosie

Journal of Mind and Medical Sciences

Vesicants are compounds that cause severe toxic effects on various tissues. Such chemical action causes tissue necrosis, with clinical expression of skin lesions with a burning character and characteristic blisters. Clinical toxic effects of cutaneous vesicles are correlated with the absorbed dose and exposure time. The goals of the study are to evaluate in vitro the skin toxicity produced by the vesicant chemical compound 2-chloroethyl-ethyl sulfide (CEES), to develop a complex antidote formula, and to optimize the therapeutic efficacy by inclusion in controlled release systems. The experimental protocol aims at the in vitro evaluation of the cytotoxicity of the vesicant …

Upper Gastrointestinal Bleeding During The Covid-19 Pandemic; Particularities Of Diagnosis And Therapy, Adrian Silaghi, Bogdan Severus Gaspar, Dragos Epistatu, Daniela Gabriela Bălan, Ioana Păunică, Anca Silvia Dumitriu, Stana Paunica, Bogdan Socea, Vlad Denis Constantin

Journal of Mind and Medical Sciences

SARS-COV 2 recently caused a global pandemic, with the first case being reported in Romania in February 2020. Important restrictive measures were imposed, so that the addressability of patients to medical services decreased. Upper gastrointestinal bleeding had more severe forms of evolution at the time of presentation, which required additional methods of diagnosis and treatment. This is a retrospective study performed on 268 patients, which aims to evaluate the type and effectiveness of different treatment methods for upper gastrointestinal bleeding during the COVID 19 pandemic. Severity assessment was performed by measuring the Rockall score and additional methods of diagnosis. The …

Fear Of Covid-19, Anxiety, Depression And Suicide Among Elderly Patients With Chronic Physical Or Mental Diseases, Vasiliki Holeva, Vasiliki Aliki Nikopoulou, Eleni Parlapani, Konstantinos Karkaletsis, Styliani Kokkoni, Dimitrios Nouvakis, Patroklos Theocharis, Ioannis Diakogiannis

Journal of Mind and Medical Sciences

Older age renders individuals vulnerable during public emergency crises. Considering that older adults are a highly heterogeneous and continuously growing demographic subgroup, this study aimed to assess the mental health impact of COVID-19 on two groups of older patients: a group of chronic physical disease and a group of chronic mental disease. A total of 102 patients completed the Fear of COVID-19 Scale, the Generalized Anxiety Disorder scale, the Brief Patient Health Questionnaire (PHQ-9) and several questions regarding demographic characteristics. Suicidality was assessed by the 9th item of the PHQ-9. According to the results, older chronic disease patients showed higher …

Eating Disorders In Men: A Comprehensive Summary, Connor James Spratt, Liam Alexander Mackenzie Myles, Emanuele Maria Merlo

Journal of Mind and Medical Sciences

Eating disorders (EDs) have detrimental effects on an individual’s physical and mental health, along with significant interpersonal, social and economic effects. Furthermore, men who are suffering with an ED face unique challenges with this. Men suffering with EDs have historically received little attention within ED research, diagnosis and intervention. However, the number of men suffering with these issues is significant and growing. Understanding of EDs tend to ignore male experiences, meaning many are left to suffer in silence until the ED has developed to a critical point. However, many now recognize the need to understand the issues facing men suffering …

Management Of Systemic Lupus Erythematosus In Pregnancy, Oana Denisa Balalau, Mihai George Loghin, Delia Maria Bogheanu, Nicolae Bacalbasa, Anca Daniela Stanescu, Daniela Gabriela Bălan, Ioana Păunică, Octavian Gabriel Olaru

Journal of Mind and Medical Sciences

Systemic lupus erythematosus is one of the most common autoimmune disorders affecting young women. Pregnant women with lupus are generally at higher risk for certain pregnancy complications than women without comorbidities. Even so, a pregnancy with lupus can be carried to term in optimal conditions if it is properly managed by a doctor. Monitoring is generally recommended six months after the onset of lupus symptoms, and ideally there should be no active lupus symptoms prior to conception. General screening tests should include the anti-phospholipid, anti-Ro and anti-La antibodies. Women who are positive for these antibodies have an increased risk of …

Sars-Cov-2 Omicron (B.1.1.529) Variant: Structural Features, Biological Characteristics, Impact On Scientific Research, General Precautions And Protective Procedures; A Systematic Review, Prithivi Nagarajan, Anitha Vetrivel, Jayanthi Kumar, Anusheela Howlader, Kumar Rangarajalu, Satheesh Kumar Sabapathy, Muthu Gopal, Saravanaavel Kumar

Journal of Mind and Medical Sciences

The SARS-CoV-2 mutations that have occurred have alarmed the entire medical community. Thus, global concerns have been expressed regarding the transmission, pathogenicity and immune evasion of the Omicron strain, which shares mutations with the variants of concern Alpha, Beta, and Gamma strains. Still, Omicron transmission has crossed numerous borders worldwide compared to other types of SARS-CoV-2. The number of confirmed cases has increased and is reappearing in India. Given the worrisome situation created by the Omicron outbreak, scientists and postgraduates have had to make decisions about current research programs at institutions around the globe. The Omicron variants under development have …

Growth Differentiation Factor 15 Is Not Associated With Glycemic Control In Patients With Type 2 Diabetes Mellitus Treated With Metformin: A Post-Hoc Analysis Of Aim Study, Fei Gao, Cheng Li, Yufei Wang, Jingyi Lu, Wei Lu, Jian Zhou, Jun Yin, Xiaojing Ma

Faculty, Staff and Student Publications

BACKGROUND: Growth differentiation factor 15 (GDF15) was newly discovered to be a promising target of metformin. The study was aimed to investigate the relationship between GDF15 and glycemic control after metformin treatment in patients with type 2 diabetes mellitus.

METHODS: The study was a post-hoc analysis of AIM (the effect of Acarbose on glycemic variability in patients with type 2 diabetes mellitus using premixed Insulin compared to Metformin) study. The participants were randomly assigned to 12 weeks of metformin (MET) or acarbose (ACA) treatment combined with insulin. Serum GDF15 levels of 51 subjects from MET group and 53 subjects from …

Associations Of Warfarin Use With Risks Of Ischemic Cerebrovascular Events And Major Bleeding In Patients With Hyperthyroidism-Related Atrial Fibrillation, Sian-De Liu, Shwu-Jiuan Lin, Chin-Ying Ray, Fang-Tsyr Lin, Weei-Chin Lin, Li-Hsuan Wang

Faculty, Staff and Students Publications

The use of oral anticoagulants for patients with new-onset hyperthyroidism-related atrial fibrillation (AF) is controversial. We aimed to evaluate the clinical benefits of warfarin therapy in this population. This retrospective cohort study used a data-cut of Taiwan Health and Welfare Database between 2000 and 2016. We compared warfarin users and nonusers among AF patients with hyperthyroidism. We used 1:2 propensity score matching to balance covariates and Cox regression model to calculate hazard ratios (HRs). The primary outcome was risk of ischemic stroke/transient ischemic attack (TIA), and the secondary outcome was major bleeding. After propensity score matching, we defined 90 and …

Cgas-Sting Activation Contributes To Podocyte Injury In Diabetic Kidney Disease, Nan Zang, Chen Cui, Xinghong Guo, Jia Song, Huiqing Hu, Mengmeng Yang, Mingyue Xu, Lingshu Wang, Xinguo Hou, Qin He, Zheng Sun, Chuan Wang, Li Chen

Faculty, Staff and Students Publications

Diabetic kidney disease (DKD) is the leading cause of end-stage renal diseases. DKD does not have efficacious treatment. The cGAS-STING pathway is activated in podocytes at the early stage of kidney dysfunction, which is associated with the activation of STING downstream effectors TBK1 and NF-κB but not IRF3. Lipotoxicity induces mitochondrial damage and mtDNA leakage to the cytosol through Bcl-2 associated X protein (BAX) in podocytes. BAX-mediated mtDNA cytosolic leakage can activate the cGAS-STING pathway in the absence of lipotoxicity and is sufficient to cause podocyte injury. Depletion of cytosolic mtDNA, genetic STING knockdown, or pharmacological inhibition of STING or …

Genetic Inhibition Of Nuclear Factor Of Activated T-Cell C2 Prevents Atrial Fibrillation In Crem Transgenic Mice, Li Ni, Satadru K Lahiri, Jiali Nie, Xiaolu Pan, Issam Abu-Taha, Julia O Reynolds, Hannah M Campbell, Haihao Wang, Markus Kamler, Wilhelm Schmitz, Frank Ulrich Müller, Na Li, Xiang Wei, Dao Wen Wang, Dobromir Dobrev, Xander H T Wehrens

Faculty, Staff and Students Publications

AIMS: Abnormal intracellular calcium (Ca2+) handling contributes to the progressive nature of atrial fibrillation (AF), the most common sustained cardiac arrhythmia. Evidence in mouse models suggests that activation of the nuclear factor of activated T-cell (NFAT) signalling pathway contributes to atrial remodelling. Our aim was to determine the role of NFATc2 in AF in humans and mouse models.

METHODS AND RESULTS: Expression levels of NFATc1-c4 isoforms were assessed by quantitative reverse transcription-polymerase chain reaction in right atrial appendages from patients with chronic AF (cAF). NFATc1 and NFATc2 mRNA levels were elevated in cAF patients compared with those in normal sinus …

Covid-19 Newsletter (Vol. 141), Center For Disaster Medicine, New York Medical College

COVID-19 Newsletter

No abstract provided.

Mapping The Universe Of Eph Receptor And Ephrin Ligand Transcripts In Epithelial And Fiber Cells Of The Eye Lens, Michael P Vu, Catherine Cheng

Faculty, Staff and Student Publications

The eye lens is a transparent, ellipsoid organ in the anterior chamber of the eye that is required for fine focusing of light onto the retina to transmit a clear image. Cataracts, defined as any opacity in the lens, remains the leading cause of blindness in the world. Recent studies in humans and mice indicate that Eph-ephrin bidirectional signaling is important for maintaining lens transparency. Specifically, mutations and polymorphisms in the EphA2 receptor and the ephrin-A5 ligand have been linked to congenital and age-related cataracts. It is unclear what other variants of Ephs and ephrins are expressed in the lens …

Objective Evaluation Of Clock Face Suture Using The Objective Structured Assessment Of Technical Skill Checklist, Lucille Treil, Nicole Neumann, Nicolas Chanes, Anne Lejay, Tristan Bourcier, Jean Bismuth, Jason T. Lee, Malachi Sheahan, Anne Florence Rouby, Nabil Chakfé, John Eidt, Yannick Georg, Erica Leith Mitchell, David Rigberg, Murray Shames, Fabien Thaveau, Claudie Sheahan

School of Medicine Faculty Publications

Objective: Assessment of the quality of the final product (QFP) is critical in simulation training, such as the clock face suture (CFS) exercise that is used to assess trainees’ needle handling and suturing accuracy. Objective Structured Assessment of Technical Skill (OSATS) scores are the gold standard for the evaluation of trainees. The aim was to investigate variability in the use of OSATS checklists and to evaluate a semi-automatic method of suture analysis vs. OSATS scores. Methods: Details of 287 CFSs performed by trainees during Fundamentals in Vascular Surgery examinations were collected. All were rated according to a seven item OSATS …

Conference Proceedings: Select Abstracts Presented At Advocate Aurora Scientific Day 2022

Journal of Patient-Centered Research and Reviews

The abstracts published in this supplement were presented at the 48th annual Advocate Aurora Scientific Day on May 25, 2022. This scholarly symposium provides a closed forum for sharing preliminary results from research studies conducted by faculty physicians and nurses, fellows, residents, scientists, and other health professionals associated with U.S. Midwest-based health system Advocate Aurora Health, publisher of the Journal of Patient-Centered Research and Reviews.

Should Health Systems Share Genetic Findings With At-Risk Relatives When The Proband Is Deceased? Interviews With Individuals Diagnosed With Lynch Syndrome, Jessica Ezzell Hunter, Jennifer L. Schneider, Alison J. Firemark, James V. Davis, Sara Gille, Pamala A. Pawloski, Su-Ying Liang, Victoria Schlieder, Alanna Kulchak Rahm

Journal of Patient-Centered Research and Reviews

Purpose: Genetic information has health implications for patients and their biological relatives. Death of a patient before sharing a genetic diagnosis with at-risk relatives is a missed opportunity to provide important information that could guide interventions to minimize cancer-related morbidity and mortality in relatives.

Methods: We performed semi-structured interviews with individuals diagnosed with Lynch syndrome at 1 of 4 health systems to explore their perspectives on whether health systems should share genetic risk information with relatives following a patient’s death. An inductive, open-coding approach was used to analyze audio-recorded content, with software-generated code reports undergoing iterative comparative analysis by a …