Digital Commons Network^™

Sensory Experiences Questionnaire Unravels Differences In Sensory Profiles Between Mecp2-Related Disorders, Bernhard Suter, Davut Pehlivan, Muharrem Ak, Holly K Harris, Ariel M Lyons-Warren

Faculty, Staff and Students Publications

The methyl CpG-binding protein-2 (MECP2) gene is located on the Xq28 region. Loss of function mutations or increased copies of MECP2 result in Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), respectively. Individuals with both disorders exhibit overlapping autism symptoms, yet few studies have dissected the differences between these gene dosage sensitive disorders. Further, research examining sensory processing patterns in persons with RTT and MDS is largely absent. Thus, the goal of this study was to analyze and compare sensory processing patterns in persons with RTT and MDS. Towards this goal, caregivers of 50 female individuals with RTT and 122 …

Temporary Peripheral Nerve Stimulation For The Treatment Of Greater Occipital Neuralgia, Royce Copeland, Angela Nwankwo, Emanuel Narcis Husu

Faculty, Staff and Students Publications

Background: Greater occipital neuralgia (GON), a cause of chronic headaches, can be debilitating and vastly affect one's quality of life. Recent strides in comprehending the pathophysiology of GON and the ongoing evolution of approaches to the condition's treatment have led to the pursuit of more effective interventions. Among these, temporary peripheral nerve stimulation (PNS) devices have surfaced as an avenue for management, presenting a minimally invasive yet highly efficient alternative in treating other chronic pain conditions. This study discusses a case of GON successfully managed with temporary (60-day) PNS.

Case report: A 35-year-old man presented with a nearly 8-month history …

Targeting Prmt9-Mediated Arginine Methylation Suppresses Cancer Stem Cell Maintenance And Elicits Cgas-Mediated Anticancer Immunity, Haojie Dong, Xin He, Lei Zhang, Wei Chen, Yi-Chun Lin, Song-Bai Liu, Huafeng Wang, Le Xuan Truong Nguyen, Min Li, Yinghui Zhu, Dandan Zhao, Lucy Ghoda, Jonathan Serody, Benjamin Vincent, Leo Luznik, Ivana Gojo, Joshua Zeidner, Rui Su, Jianjun Chen, Ritin Sharma, Patrick Pirrotte, Xiwei Wu, Weidong Hu, Weidong Han, Binghui Shen, Ya-Huei Kuo, Jie Jin, Amandeep Salhotra, Jeffrey Wang, Guido Marcucci, Yun Lyna Luo, Ling Li

Faculty, Staff and Students Publications

Current anticancer therapies cannot eliminate all cancer cells, which hijack normal arginine methylation as a means to promote their maintenance via unknown mechanisms. Here we show that targeting protein arginine N-methyltransferase 9 (PRMT9), whose activities are elevated in blasts and leukemia stem cells (LSCs) from patients with acute myeloid leukemia (AML), eliminates disease via cancer-intrinsic mechanisms and cancer-extrinsic type I interferon (IFN)-associated immunity. PRMT9 ablation in AML cells decreased the arginine methylation of regulators of RNA translation and the DNA damage response, suppressing cell survival. Notably, PRMT9 inhibition promoted DNA damage and activated cyclic GMP-AMP synthase, which underlies the type …

Relevance Of Lymphocyte Proliferation To Pha In Severe Combined Immunodeficiency (Scid) And T Cell Lymphopenia, Roshini S Abraham, Amrita Basu, Jennifer R Heimall, Elizabeth Dunn, Alison Yip, Malika Kapadia, Neena Kapoor, Lisa Forbes Satter, Rebecca Buckley, Richard O'Reilly, Geoffrey D E Cuvelier, Sharat Chandra, Jeffrey Bednarski, Sonali Chaudhury, Theodore B Moore, Hilary Haines, Blachy J Dávila Saldaña, Deepakbabu Chellapandian, Ahmad Rayes, Karin Chen, Emi Caywood, Shanmuganathan Chandrakasan, Mark Thomas Vander Lugt, Christen Ebens, Pierre Teira, Evan Shereck, Holly Miller, Victor Aquino, Hesham Eissa, Lolie C Yu, Alfred Gillio, Lisa Madden, Alan Knutsen, Ami J Shah, Kenneth Desantes, Jessie Barnum, Larisa Broglie, Avni Y Joshi, Gary Kleiner, Jasmeen Dara, Susan Prockop, Caridad Martinez, Talal Mousallem, Joseph Oved, Lauri Burroughs, Rebecca Marsh, Troy R Torgerson, Jennifer W Leiding, Sung Yun Pai, Donald B Kohn, Michael A Pulsipher, Linda M Griffith, Luigi D Notarangelo, Morton J Cowan, Jennifer Puck, Christopher C Dvorak, Elie Haddad

Faculty, Staff and Students Publications

Severe combined immunodeficiency (SCID) is characterized by a severe deficiency in T cell numbers. We analyzed data collected (n = 307) for PHA-based T cell proliferation from the PIDTC SCID protocol 6901, using either a radioactive or flow cytometry method. In comparing the two groups, a smaller number of the patients tested by flow cytometry had < 10% of the lower limit of normal proliferation as compared to the radioactive method (p = 0.02). Further, in patients with CD3+ T cell counts between 51 and 300 cells/μL, there was a higher proliferative response with the PHA flow assay compared to the 3H-T assay (p < 0.0001), suggesting that the method of analysis influences the resolution and interpretation of PHA results. Importantly, we observed many SCID patients with profound T cell lymphopenia having normal T cell proliferation when assessed by flow cytometry. We recommend this test be considered only as supportive in the diagnosis of typical SCID.

Current And Future Perspectives On The Consensus Guideline For Food Protein-Induced Enterocolitis Syndrome (Fpies), Sara Anvari, Melanie A Ruffner, Anna Nowak-Wegrzyn

Faculty, Staff and Students Publications

Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE mediated food allergy presenting with delayed onset of projectile vomiting in the absence of cutaneous and respiratory symptoms. The pathophysiology of FPIES remains poorly characterized. The first international consensus guidelines for FPIES were published in 2017 and provided clinicians with parameters on the diagnosis and treatment of FPIES. The guidelines have served as a resource in the recognition and management of FPIES, contributing to an increased awareness of FPIES. Since then, new evidence has emerged, shedding light on adult-onset FPIES, the different phenotypes of FPIES, the recognition of new food triggers, center-specific …

Micropolarized To The Core, My Diem Quan, Josephine C Ferreon, Allan Chris M Ferreon

Faculty, Staff and Students Publications

Macromolecules can undergo liquid–liquid phase separation to form condensates that have critical roles in biological functions and dysfunctions. A new study demonstrates that differences in micropolarity between components is a prime determinant of the multiphasic architecture of biomolecular condensates.

Icosapent Ethyl Following Acute Coronary Syndrome: The Reduce-It Trial, Neila Sayah, Deepak L Bhatt, Michael Miller, Eliot A Brinton, Terry A Jacobson, Steven B Ketchum, Lixia Jiao, Armando Lira Pineda, Ralph T Doyle, Jean Claude Tardif, Christie M Ballantyne, Ph Gabriel Steg

Faculty, Staff and Students Publications

No abstract provided.

Long-Term Implantable Ventricular Assist Device Support In Children, Junsang Cho, Hari P Tunuguntla, Sebastian C Tume, Joseph A Spinner, Claire E Bocchini, Jun Teruya, Jeffrey S Heinle, Edward J Hickey, Iki Adachi

Faculty, Staff and Students Publications

Background: In pediatrics, implantable continuous-flow ventricular assist devices (IC-VAD) are often used as a "temporary" support, bridging children to cardiac transplantation during the same hospital admission.

Methods: We conducted a retrospective review of our consecutive patients undergoing IC-VAD support at a tertiary pediatric heart center between 2008 and 2022.

Results: We identified 100 IC-VAD implant encounters: HeartWare HVAD (67; 67%), HeartMate II (17; 17%), and HeartMate 3 (16; 16%). The median (range) age, weight, and body surface area at implantation were 14.1 (3.0-56.5) years, 54.8 (13.3-140) kg, and 1.6 (0.6-2.6) m2, respectively. Cardiomyopathy (58; 58%) was the most common etiology, …

Prevalence Of Depression In Physical Therapy Environments For Young Adult Populations In The U.S.: A Systematic Literature Review, Audrey N. Baucom

Honors College Theses

Objective: This systematic review aimed to examine interactions of depression symptoms and diagnoses and its prevalence in physical therapy settings among the young adult population ages 18-24 in the United States through current literature and to identify existing literature. Methods: This review followed the PRISMA guidelines to form a systematic review. Ten databases were extensively searched. Results were screened by one researcher and those that met the criteria were verified as inclusive by a second researcher. Results: The search yielded 3,017 results and included two studies. In each study, age was not identified as a prevalent variable in mental health …

Bearing The Benefit: An Evolution Of Passing To Trespassing & How We Got Here, Kennedi J. Williams

Honors College Theses

In recent years, we have seen a shift in the social treatment of white people in America. The desire to be politically correct at all times, in hopes of avoiding becoming the next viral “Karen” or racist has become imperative. The following thesis will explore the latest trend of white women buying racial capital by producing mixed-race children. At first glance, this idea can be a bit problematic. How can we assume the reasoning behind a woman choosing to bear a child? With this in mind, I would like to emphasize that individuals do not have to consciously be racist …

Mapping Collaboration: Examining State-Government Alliance In Addressing Specific Child Sexual Offenses, Allison R. Lair

Honors College Theses

Amidst our society, a harrowing reality persists: one in ten children bear the burden of enduring sexual abuse before reaching the tender age of eighteen. Alas, this issue often remains hidden from the societal spotlight due to limitations in offense-specific statistical crime data. Since 1930, the Federal Bureau of Investigation's Uniform Crime Report (UCR) has been the primary resource for annual state-level law enforcement data collection. However, the voluntary nature of participation and the mass categorization of offenses within the UCR methodology, lead to the exclusion of crucial data concerning child sexual offenses. This research explores the dynamics of state …

Immunologic Basis For Development Of Keratoconjunctivitis Sicca In Systemic Autoimmune Diseases: Role Of Innate Immune Sensors, Michael E Stern, Argyrios N Theofilopoulos, Philipp Steven, Jerry Y Niederkorn, Robert Fox, Margarita Calonge, Christof Scheid, Stephen C Pflugfelder

Faculty, Staff and Students Publications

The literature is filled with citations reporting an increased incidence of chronic dry eye disease, also known as keratoconjunctivitis sicca, in patients with systemic autoimmune diseases such as rheumatoid arthritis, Sjögren's Syndrome, systemic sclerosis and lupus. As the most environmentally exposed mucosal surface of the body, the conjunctiva constantly responds to environmental challenges which are typically self limited, but when persistent and unresolved may provoke pathogenic innate and adaptive immune reactions. Our understanding of the pathophysiological mechanisms by which systemic autoimmune diseases cause dry eye inducing ocular surface inflammation continues to evolve. Conjunctival immune tone responds to self or foreign …

T-Cell Acute Lymphoblastic Leukemia/Lymphoma (T-All) With Negative Screening Immaturity Markers And Gamma-Delta Receptor Expression, Maria Faraz, Anita Parmigiani, Nina Monkash, Anne Chen

2020-Current year OA Pubs

T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) is characterized by the combination of T-cell lineage and the presence of immaturity marker(s). Sometimes, the most common immaturity markers for initial flow cytometry screening in T-ALL may be negative, which can be a diagnostic pitfall. When a lack of common first-line immaturity markers is encountered in combination with gamma/delta T-cell receptor expression, a misdiagnosis of mature gamma-delta T-cell leukemia/lymphoma could be rendered. Here, we discuss two T-ALL cases with the absence of common flow cytometry immaturity markers and positive gamma/delta receptor expression.

Impact Of Insulin Sensitivity And Β-Cell Function Over Time On Glycemic Outcomes In The Glycemia Reduction Approaches In Diabetes: A Comparative Effectiveness Study (Grade): Differential Treatment Effects Of Dual Therapy, Kristina M Utzschneider, Naji Younes, Nicole M Butera, Ashok Balasubramanyam, Richard M Bergenstal, Joshua Barzilay, Cyrus Desouza, Ralph A Defronzo, Tom Elasy, Jonathan Krakoff, Steven E Kahn, Neda Rasouli, Willy M Valencia, William I Sivitz, Grade Research Group

Faculty, Staff and Students Publications

Objective: To compare the effects of insulin sensitivity and β-cell function over time on HbA1c and durability of glycemic control in response to dual therapy.

Research design and methods: GRADE participants were randomized to glimepiride (n = 1,254), liraglutide (n = 1,262), or sitagliptin (n = 1,268) added to baseline metformin and followed for mean ± SD 5.0 ± 1.3 years, with HbA1c assessed quarterly and oral glucose tolerance tests at baseline, 1, 3, and 5 years. We related time-varying insulin sensitivity (HOMA 2 of insulin sensitivity [HOMA2-%S]) and early (0-30 min) and total (0-120 min) C-peptide (CP) responses to …

What Weight Changes Really Happened During Covid-19 Among Older Adults?, John A Batsis, Dennis T Villareal

Faculty, Staff and Students Publications

No abstract provided.

Correspondence Attention For Facial Appearance Simulation, Xi Fang, Daeseung Kim, Xuanang Xu, Tianshu Kuang, Nathan Lampen, Jungwook Lee, Hannah H Deng, Michael A K Liebschner, James J Xia, Jaime Gateno, Pingkun Yan

Faculty, Staff and Students Publications

In orthognathic surgical planning for patients with jaw deformities, it is crucial to accurately simulate the changes in facial appearance that follow the bony movement. Compared with the traditional biomechanics-based methods like the finite-element method (FEM), which are both labor-intensive and computationally inefficient, deep learning-based methods offer an efficient and robust modeling alternative. However, current methods do not account for the physical relationship between facial soft tissue and bony structure, causing them to fall short in accuracy compared to FEM. In this work, we propose an Attentive Correspondence assisted Movement Transformation network (ACMT-Net) to predict facial changes by correlating facial …

Severity-Adjusted Evaluation Of Liver Transplantation On Health Outcomes In Urea Cycle Disorders, Roland Posset, Sven F Garbade, Florian Gleich, Svenja Scharre, Jürgen G Okun, Andrea L Gropman, Sandesh C S Nagamani, Ann-Catrin Druck, Friederike Epp, Georg F Hoffmann, Stefan Kölker, Matthias Zielonka

Faculty, Staff and Students Publications

Purpose: Liver transplantation (LTx) is performed in individuals with urea cycle disorders when medical management (MM) insufficiently prevents the occurrence of hyperammonemic events. However, there is a paucity of systematic analyses on the effects of LTx on health-related outcome parameters compared to individuals with comparable severity who are medically managed.

Methods: We investigated the effects of LTx and MM on validated health-related outcome parameters, including the metabolic disease course, linear growth, and neurocognitive outcomes. Individuals were stratified into "severe" and "attenuated" categories based on the genotype-specific and validated in vitro enzyme activity.

Results: LTx enabled metabolic stability by prevention of …

Critical Role Of Histone Deacetylase 3 In The Regulation Of Kidney Inflammation And Fibrosis, Yuguo Wang, Baihai Jiao, Zhaoyong Hu, Yanlin Wang

Faculty, Staff and Students Publications

Chronic kidney disease (CKD) is characterized by kidney inflammation and fibrosis. However, the precise mechanisms leading to kidney inflammation and fibrosis are poorly understood. Since histone deacetylase is involved in inflammation and fibrosis in other tissues, we examined the role of histone deacetylase 3 (HDAC3) in the regulation of inflammation and kidney fibrosis. HDAC3 is induced in the kidneys of animal models of CKD but mice with conditional HDAC3 deletion exhibit significantly reduced fibrosis in the kidneys compared with control mice. The expression of proinflammatory and profibrotic genes was significantly increased in the fibrotic kidneys of control mice, which was …

Functional Vision In Patients With Biallelic Ush2a Variants, Elise Heon, Michele Melia, Laura E Bocchino, Lassana Samarakoon, Jacque L Duncan, Allison R Ayala, Isabelle Audo, Chris Bradley, Janet K Cheetham, Gislin Dagnelie, Todd A Durham, Carel B Hoyng, Nieraj Jain, Kanishka T Jayasundera, Mark E Pennesi, Christina Y Weng, Foundation Fighting Blindness Consortium Investigator Group

Faculty, Staff and Students Publications

Purpose: To describe functional vision (FV) and investigate the relationship between FV, visual acuity (VA), and hill of vision (VTOT) at baseline in patients with biallelic USH2A variants.

Design: Multicenter, international, cross-sectional study.

Methods: In individuals with biallelic disease-causing variants in USH2A, clinical diagnosis of Usher syndrome type 2 (USH2) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) was based on history of hearing loss and audiology examinations. The VALVVFQ-48 was administered verbally to participants ≥18 years old. VA was measured in both eyes; VTOT was determined from static perimetry in the study eye (better VA). FV scores were calculated using …

Improved Postoperative Speech Recognition And Processor Use With Early Cochlear Implant Activation, Ankita Patro, Nathan R Lindquist, Jourdan T Holder, Michael H Freeman, René H Gifford, Kareem O Tawfik, Matthew R O'Malley, Marc L Bennett, David S Haynes, Elizabeth L Perkins

Faculty, Staff and Students Publications

Objective: To report speech recognition outcomes and processor use based on timing of cochlear implant (CI) activation.

Study design: Retrospective cohort.

Setting: Tertiary referral center.

Patients: A total of 604 adult CI recipients from October 2011 to March 2022, stratified by timing of CI activation (group 1: ≤10 d, n = 47; group 2: >10 d, n = 557).

Main outcome measures: Average daily processor use; Consonant-Nucleus-Consonant (CNC) and Arizona Biomedical (AzBio) in quiet at 1-, 3-, 6-, and 12-month visits; time to peak performance.

Results: The groups did not differ in sex ( p = 0.887), age at CI …

Dna Combing Versus Dna Spreading And The Separation Of Sister Chromatids, Alice Meroni, Sophie E Wells, Carmen Fonseca, Arnab Ray Chaudhuri, Keith W Caldecott, Alessandro Vindigni

2020-Current year OA Pubs

DNA combing and DNA spreading are two central approaches for studying DNA replication fork dynamics genome-wide at single-molecule resolution by distributing labeled genomic DNA on coverslips or slides for immunodetection. Perturbations in DNA replication fork dynamics can differentially affect either leading or lagging strand synthesis, for example, in instances where replication is blocked by a lesion or obstacle on only one of the two strands. Thus, we sought to investigate whether the DNA combing and/or spreading approaches are suitable for resolving adjacent sister chromatids during DNA replication, thereby enabling the detection of DNA replication dynamics within individual nascent strands. To …

Cyclophilin A Supports Translation Of Intrinsically Disordered Proteins And Affects Haematopoietic Stem Cell Ageing, Laure Maneix, Polina Iakova, Charles G Lee, Shannon E Moree, Xuan Lu, Gandhar K Datar, Cedric T Hill, Eric Spooner, Jordon C K King, David B Sykes, Borja Saez, Bruno Di Stefano, Xi Chen, Daniela S Krause, Ergun Sahin, Francis T F Tsai, Margaret A Goodell, Bradford C Berk, David T Scadden, André Catic

Faculty, Staff and Students Publications

Loss of protein function is a driving force of ageing. We have identified peptidyl-prolyl isomerase A (PPIA or cyclophilin A) as a dominant chaperone in haematopoietic stem and progenitor cells. Depletion of PPIA accelerates stem cell ageing. We found that proteins with intrinsically disordered regions (IDRs) are frequent PPIA substrates. IDRs facilitate interactions with other proteins or nucleic acids and can trigger liquid-liquid phase separation. Over 20% of PPIA substrates are involved in the formation of supramolecular membrane-less organelles. PPIA affects regulators of stress granules (PABPC1), P-bodies (DDX6) and nucleoli (NPM1) to promote phase separation and increase cellular stress resistance. …

Sensitive Mrd Detection From Lymphatic Fluid After Surgery In Hpv-Associated Oropharyngeal Cancer, Noah Earland, Nicholas P Semenkovich, Ricardo J Ramirez, Peter K Harris, Andrew I Hearn, Matthew Inkman, Jeffrey J Szymanski, Benjamin M Wahle, Kevin Chen, Irfan Alahi, Gabris Ni, Andrew Chen, Jin Zhang, Aadel A Chaudhuri, Et Al.

2020-Current year OA Pubs

PURPOSE: Our goal was to demonstrate that lymphatic drainage fluid (lymph) has improved sensitivity in quantifying postoperative minimal residual disease (MRD) in locally advanced human papillomavirus (HPV)-associated oropharyngeal squamous cell carcinoma (OPSCC) compared with plasma, and leverage this novel biofluid for patient risk stratification.

EXPERIMENTAL DESIGN: We prospectively collected lymph samples from neck drains of 106 patients with HPV (+) OPSCC, along with 67 matched plasma samples, 24 hours after surgery. PCR and next-generation sequencing were used to quantify cancer-associated cell-free HPV (cf-HPV) and tumor-informed variants in lymph and plasma. Next, lymph cf-HPV and variants were compared with TNM stage, …

Severity Of Respiratory Syncytial Virus Vs Covid-19 And Influenza Among Hospitalized Us Adults, Diya Surie, Jennie H Kwon, Et Al.

2020-Current year OA Pubs

IMPORTANCE: On June 21, 2023, the Centers for Disease Control and Prevention recommended the first respiratory syncytial virus (RSV) vaccines for adults aged 60 years and older using shared clinical decision-making. Understanding the severity of RSV disease in adults can help guide this clinical decision-making.

OBJECTIVE: To describe disease severity among adults hospitalized with RSV and compare it with the severity of COVID-19 and influenza disease by vaccination status.

DESIGN, SETTING, AND PARTICIPANTS: In this cohort study, adults aged 18 years and older admitted to the hospital with acute respiratory illness and laboratory-confirmed RSV, SARS-CoV-2, or influenza infection were prospectively …

Reliability And Validity Of Smartphone Cognitive Testing For Frontotemporal Lobar Degeneration, Adam M Staffaroni, Nupur Ghoshal, Jason Hassenstab, Et Al.

2020-Current year OA Pubs

IMPORTANCE: Frontotemporal lobar degeneration (FTLD) is relatively rare, behavioral and motor symptoms increase travel burden, and standard neuropsychological tests are not sensitive to early-stage disease. Remote smartphone-based cognitive assessments could mitigate these barriers to trial recruitment and success, but no such tools are validated for FTLD.

OBJECTIVE: To evaluate the reliability and validity of smartphone-based cognitive measures for remote FTLD evaluations.

DESIGN, SETTING, AND PARTICIPANTS: In this cohort study conducted from January 10, 2019, to July 31, 2023, controls and participants with FTLD performed smartphone application (app)-based executive functioning tasks and an associative memory task 3 times over 2 weeks. …

Medicaid Eligibility Loss Among Dual-Eligible Beneficiaries Before And During Covid-19 Public Health Emergency, Yanlei Ma, Eric T Roberts, Kenton J Johnston, E John Orav, Jose F Figueroa

2020-Current year OA Pubs

IMPORTANCE: Medicaid coverage loss can substantially compromise access to and affordability of health care for dual-eligible beneficiaries. The extent to which this population lost Medicaid coverage before and during the COVID-19 public health emergency (PHE) and the characteristics of beneficiaries more at risk for coverage loss are currently not well known.

OBJECTIVE: To assess the loss of Medicaid coverage among dual-eligible beneficiaries before and during the first year of the PHE, and to examine beneficiary-level and plan-level factors associated with heightened likelihood of losing Medicaid.

DESIGN, SETTING, AND PARTICIPANTS: This repeated cross-sectional study used national Medicare data to estimate annual …

Loncastuximab Tesirine In Relapsed/Refractory Diffuse Large B-Cell Lymphoma: Long-Term Efficacy And Safety From The Phase Ii Lotis-2 Study, Paolo F. Caimi, Brad S Kahl, Et Al.

2020-Current year OA Pubs

Therapies that demonstrate durable, long-term responses with manageable safety and tolerability are needed for patients with relapsed/refractory diffuse large B-cell lymphoma (R/R DLBCL). Loncastuximab tesirine (loncastuximab tesirine-lpyl [Lonca]), an anti-CD19 antibody conjugated to a potent pyrrolobenzodiazepine dimer, demonstrated single-agent antitumor activity in the pivotal phase II LOTIS-2 study in heavily pretreated patients with R/R DLBCL. Here we present updated efficacy and safety analyses from LOTIS-2, performed for all patients and in subsets of patients with a complete response (CR), including patients with CR who were event-free (no progressive disease or death) for ≥1 year and ≥2 years from cycle 1, …

Novel Sgce Mutation In A Patient With Myoclonus-Dystonia: A Case Report, Eva Klinman, Catherine Gooch, Joel S. Perlmutter, Albert A. Davis, Baijayanta Maiti

2020-Current year OA Pubs

OBJECTIVES: Characterize the presentation, workup, and management of

METHODS: A woman with myoclonus and dystonia was identified based on clinical history and physical examination. Workup was conducted to determine the cause of her symptoms, including whole-exome sequencing. Myoclonus-dystonia is associated with more than 100 distinct mutations in MYC/DYT

RESULTS: Childhood onset myoclonus and worsening dystonia with age were identified in a young woman. She underwent screening for common causes of twitching movements, followed by whole-exome sequencing which identified a de novo novel variant in the

DISCUSSION: Myoclonus-dystonia should be considered in patients with symptoms of head and upper extremity myoclonus …

The Use Of Telemedicine By Us Nephrologists For In-Center Hemodialysis Care During The Pandemic: An Analysis Of National Medicare Claims, Jingbo Niu, Omar Rosales, Abiodun Oluyomi, Susie Q Lew, Wolfgang C Winkelmayer, Glenn M Chertow, Kevin F Erickson

Faculty, Staff and Students Publications

RATIONALE & OBJECTIVE: Because of coronavirus disease 2019 (COVID-19), the US government issued emergency waivers in March 2020 that removed regulatory barriers around the use of telemedicine. For the first time, nephrologists were reimbursed for telemedicine care delivered during in-center hemodialysis. We examined the use of telemedicine for in-center hemodialysis during the first 16 months of the pandemic.

STUDY DESIGN: We ascertained telemedicine modifiers on nephrologist claims. We used multivariable regression to examine time trends and patient, dialysis facility, and geographic correlates of telemedicine use. We also examined whether the estimated effects of predictors of telemedicine use changed over time. …

Drug-Induced Liver Injury In The Elderly: Consensus Statements And Recommendations From The Iq-Dili Initiative, Eric B Cohen, Meenal Patwardhan, Ritu Raheja, David H Alpers, Raul J Andrade, Mark I Avigan, James H Lewis, Don C Rockey, Francis Chui, Alexandru M Iacob, Camila C Linardi, Arie Regev, Jesse Shick, M Isabel Lucena

2020-Current year OA Pubs

The elderly demographic is the fastest-growing segment of the world's population and is projected to exceed 1.5 billion people by 2050. With multimorbidity, polypharmacy, susceptibility to drug-drug interactions, and frailty as distinct risk factors, elderly patients are especially vulnerable to developing potentially life-threatening safety events such as serious forms of drug-induced liver injury (DILI). It has been a longstanding shortcoming that elderly individuals are often a vulnerable population underrepresented in clinical trials. As such, an improved understanding of DILI in the elderly is a high-priority, unmet need. This challenge is underscored by recent documents put forward by the U.S. Food …