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

Digital Commons Network™

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

The Texas Medical Center Library

Discipline
Keyword
Publication Year
Publication
Publication Type
File Type

Articles 23851 - 23880 of 27612

Full-Text Articles in Entire DC Network

Transcutaneous Energy Transmission: Can We Do It Now?, Yuriy Pya Oct 2020

Transcutaneous Energy Transmission: Can We Do It Now?, Yuriy Pya

The VAD Journal

The percutaneous driveline used in contemporary LVADs presents a continuous risk of infection for the duration of support. Minimizing infection in durable mechanical circulatory support systems requires total implantation of all components and energy transfer by means other than percutaneous drivelines. A novel coplanar energy transfer (CET) system, similar to the original transcutaneous energy transfer (TET) design, is unique by incorporating two large rings with coil-within-the-coil topology to ensure strong resonance power. The CET system consists of an internal integrated controller, a battery coupled with an internal thoracic coil ring, and the LVAD pump. External equipment includes a power transmission …


Predoctoral Periodontal Education And Covid-19: Challenges, Actions, And Learned Lessons, Karo Parsegian, Srinivas Ayilavarapu, Amity L Gardner, Nikola Angelov Oct 2020

Predoctoral Periodontal Education And Covid-19: Challenges, Actions, And Learned Lessons, Karo Parsegian, Srinivas Ayilavarapu, Amity L Gardner, Nikola Angelov

Faculty, Staff and Student Publications

No abstract provided.


Angiotensin Inhibition And Gastrointestinal Bleeding Prevention In Patients With Left Ventricular Assist Devices, Phillip A. Weeks Oct 2020

Angiotensin Inhibition And Gastrointestinal Bleeding Prevention In Patients With Left Ventricular Assist Devices, Phillip A. Weeks

The VAD Journal

Gastrointestinal bleeding remains a common complication in advanced heart failure patients following implantation of continuous-flow left ventricular assist devices. While the cause is likely multifactorial, development of arterial venous malformations in the gastrointestinal mucosa are a key factor. Inhibition of angiotensin II activity has been postulated to disrupt the signaling that promotes angiogenesis in these patients. We aim to review the theoretical basis for angiotensin receptor blockade, which has been proposed and explore the published evidence regarding this therapy and gastrointestinal bleeding in LVAD patients.


The Multiple Waves Of Covid-19 In Patients With Inflammatory Bowel Disease: A Temporal Trend Analysis, Elizabeth R Volkmann, Donald P Tashkin, Michael D Roth, Ning Li, Julio Charles, Maureen Mayes, Grace Kim, Jonathan Goldin, Lila Pourzand, Philip J Clements, Daniel E Furst, Dinesh Khanna, Robert M Elashoff, Shervin Assassi Oct 2020

The Multiple Waves Of Covid-19 In Patients With Inflammatory Bowel Disease: A Temporal Trend Analysis, Elizabeth R Volkmann, Donald P Tashkin, Michael D Roth, Ning Li, Julio Charles, Maureen Mayes, Grace Kim, Jonathan Goldin, Lila Pourzand, Philip J Clements, Daniel E Furst, Dinesh Khanna, Robert M Elashoff, Shervin Assassi

Faculty, Staff and Student Publications

OBJECTIVE: To investigate the prevalence of the MUC5B promoter variant rs35705950 in patients with systemic sclerosis-interstitial lung disease (SSc-ILD) and whether its presence predicts response to immunosuppression with cyclophosphamide (CYC) and mycophenolate (MMF).

METHODS: SSc-ILD patients who participated in Scleroderma Lung Study (SLS) II (MMF versus CYC) were included in this study (N = 142). TaqMan Genotyping Assays were used to determine the MUC5B rs35705950 single nucleotide polymorphism. Joint models were created to examine how the presence of this variant affected the course of the forced vital capacity (FVC) over 2 years. Linear regression models were used to investigate the …


Determining The Utility Of Hl7® Fast Healthcare Interoperability Resources (Fhir®) Standards In Supporting Ehr And Edc-Agnostic Esource Implementations For Clinical Research, Maryam Garza Oct 2020

Determining The Utility Of Hl7® Fast Healthcare Interoperability Resources (Fhir®) Standards In Supporting Ehr And Edc-Agnostic Esource Implementations For Clinical Research, Maryam Garza

Dissertations and Theses (Open Access)

Advances in efficiency while maintaining or improving quality are immediately needed in clinical research, specifically for multicenter clinical studies. Though recent evidence points toward electronic health record (EHR) to electronic data capture (EDC) system (EHR to EDC) data collection as a viable contribution, there are many unanswered process and outcome-level questions regarding quality, site burden, and cost within the context of multicenter clinical trials. Direct extraction and use of EHR data in multicenter clinical studies is a long-term and multifaceted endeavor that includes design, development, implementation and evaluation of methods and tools for semi-automating tasks in the research data collection …


Evidence For Craniofacial Enhancer Variation Underlying Nonsyndromic Cleft Lip And Palate, Vershanna E Morris, S Shahrukh Hashmi, Lisha Zhu, Lorena Maili, Christian Urbina, Steven Blackwell, Matthew R Greives, Edward P Buchanan, John B Mulliken, Susan H Blanton, W Jim Zheng, Jacqueline T Hecht, Ariadne Letra Oct 2020

Evidence For Craniofacial Enhancer Variation Underlying Nonsyndromic Cleft Lip And Palate, Vershanna E Morris, S Shahrukh Hashmi, Lisha Zhu, Lorena Maili, Christian Urbina, Steven Blackwell, Matthew R Greives, Edward P Buchanan, John B Mulliken, Susan H Blanton, W Jim Zheng, Jacqueline T Hecht, Ariadne Letra

Faculty, Staff and Student Publications

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect for which only ~ 20% of the underlying genetic variation has been identified. Variants in noncoding regions have been increasingly suggested to contribute to the missing heritability. In this study, we investigated whether variation in craniofacial enhancers contributes to NSCLP. Candidate enhancers were identified using VISTA Enhancer Browser and previous publications. Prioritization was based on patterning defects in knockout mice, deletion/duplication of craniofacial genes in animal models and results of whole exome/whole genome sequencing studies. This resulted in 20 craniofacial enhancers to be investigated. Custom amplicon-based …


Representation Of Ehr Data For Predictive Modeling: A Comparison Between Umls And Other Terminologies, Laila Rasmy, Firat Tiryaki, Yujia Zhou, Yang Xiang, Cui Tao, Hua Xu, Degui Zhi Oct 2020

Representation Of Ehr Data For Predictive Modeling: A Comparison Between Umls And Other Terminologies, Laila Rasmy, Firat Tiryaki, Yujia Zhou, Yang Xiang, Cui Tao, Hua Xu, Degui Zhi

Faculty, Staff and Student Publications

OBJECTIVE: Predictive disease modeling using electronic health record data is a growing field. Although clinical data in their raw form can be used directly for predictive modeling, it is a common practice to map data to standard terminologies to facilitate data aggregation and reuse. There is, however, a lack of systematic investigation of how different representations could affect the performance of predictive models, especially in the context of machine learning and deep learning.

MATERIALS AND METHODS: We projected the input diagnoses data in the Cerner HealthFacts database to Unified Medical Language System (UMLS) and 5 other terminologies, including CCS, CCSR, …


Low-Shot Deep Learning Of Diabetic Retinopathy With Potential Applications To Address Artificial Intelligence Bias In Retinal Diagnostics And Rare Ophthalmic Diseases, Philippe Burlina, William Paul, Philip Mathew, Neil Joshi, Katia D Pacheco, Neil M Bressler Oct 2020

Low-Shot Deep Learning Of Diabetic Retinopathy With Potential Applications To Address Artificial Intelligence Bias In Retinal Diagnostics And Rare Ophthalmic Diseases, Philippe Burlina, William Paul, Philip Mathew, Neil Joshi, Katia D Pacheco, Neil M Bressler

Faculty, Staff and Students Publications

IMPORTANCE: Recent studies have demonstrated the successful application of artificial intelligence (AI) for automated retinal disease diagnostics but have not addressed a fundamental challenge for deep learning systems: the current need for large, criterion standard-annotated retinal data sets for training. Low-shot learning algorithms, aiming to learn from a relatively low number of training data, may be beneficial for clinical situations involving rare retinal diseases or when addressing potential bias resulting from data that may not adequately represent certain groups for training, such as individuals older than 85 years.

OBJECTIVE: To evaluate whether low-shot deep learning methods are beneficial when using …


Application Of Human Factors Methods To Understand Missed Follow-Up Of Abnormal Test Results, Deevakar Rogith, Tyler Satterly, Hardeep Singh, Dean F Sittig, Elise Russo, Michael W Smith, Don Roosan, Viraj Bhise, Daniel R Murphy Oct 2020

Application Of Human Factors Methods To Understand Missed Follow-Up Of Abnormal Test Results, Deevakar Rogith, Tyler Satterly, Hardeep Singh, Dean F Sittig, Elise Russo, Michael W Smith, Don Roosan, Viraj Bhise, Daniel R Murphy

Faculty, Staff and Students Publications

OBJECTIVE: This study demonstrates application of human factors methods for understanding causes for lack of timely follow-up of abnormal test results ("missed results") in outpatient settings.

METHODS: We identified 30 cases of missed test results by querying electronic health record data, developed a critical decision method (CDM)-based interview guide to understand decision-making processes, and interviewed physicians who ordered these tests. We analyzed transcribed responses using a contextual inquiry (CI)-based methodology to identify contextual factors contributing to missed results. We then developed a CI-based flow model and conducted a fault tree analysis (FTA) to identify hierarchical relationships between factors that delayed …


Superficial Basal Cell Carcinoma Of The Face Successfully Treated With Ingenol Mebutate 005% Gel: Case Report And A Review Of The Literature, Theodore Rosen, Kami Lowery Oct 2020

Superficial Basal Cell Carcinoma Of The Face Successfully Treated With Ingenol Mebutate 005% Gel: Case Report And A Review Of The Literature, Theodore Rosen, Kami Lowery

Faculty, Staff and Students Publications

A 64 year-old Caucasian male patient with a long history of ultraviolet light exposure and multiple actinic keratoses presented with a large, erythematous, and scaly plaque on his forehead. Biopsies revealed superficial basal cell carcinoma (sBCC). Because the patient wanted the shortest possible topical regimen, his sBCC was treated with two overnight ingenol mebutate (IM) 0.05% gel applications. He tolerated the local skin reaction (LSR) well, and at approximately six weeks post-treatment, biopsies showed no evidence of sBCC. The patient was happy with the cosmetic outcome and has remained free of clinical recurrence for 18 months. Although IM gel is …


Proposals For Upper Limits Of Safe Intake For Methionine, Histidine, And Lysine In Healthy Humans, Luc Cynober, Dennis M Bier, Patrick Stover, Motoni Kadowaki, Sidney M Morris, Rajavel Elango, Miro Smriga Oct 2020

Proposals For Upper Limits Of Safe Intake For Methionine, Histidine, And Lysine In Healthy Humans, Luc Cynober, Dennis M Bier, Patrick Stover, Motoni Kadowaki, Sidney M Morris, Rajavel Elango, Miro Smriga

Children’s Nutrition Research Center Staff Publications

Based on research presented during the 10th Amino Acid Assessment Workshop, no observed adverse effect levels (NOAELs) for supplemental methionine at 46 mg/(kg·d) (∼3.2 g/d), for supplemental histidine at 8.0 g/d, and for supplemental lysine at 6.0 g/d have been proposed. These NOAELs are relevant to healthy adults and are applicable only to high-purity amino acids administered in fortified foods or dietary supplements. Because individuals are exposed to the above supplemental amino acids in the context of complex combinations of essential amino acids or individually in dietary supplements for various physiologic benefits, such as body fat reduction, skin conditioning, mental …


The Central Melanocortin System And Human Obesity, Yongjie Yang, Yong Xu Oct 2020

The Central Melanocortin System And Human Obesity, Yongjie Yang, Yong Xu

Children’s Nutrition Research Center Staff Publications

The prevalence of obesity and the associated comorbidities highlight the importance of understanding the regulation of energy homeostasis. The central melanocortin system plays a critical role in controlling body weight balance. Melanocortin neurons sense and integrate the neuronal and hormonal signals, and then send regulatory projections, releasing anorexigenic or orexigenic melanocortin neuropeptides, to downstream neurons to regulate the food intake and energy expenditure. This review summarizes the latest progress in our understanding of the role of the melanocortin pathway in energy homeostasis. We also review the advances in the identification of human genetic variants that cause obesity via mechanisms that …


The Post Hurricane Harvey Respiratory Protection Training Program, Yiyao Li, Christine Bakos-Block, Amal Rammah, Rotem Magal, Joel Adekanye, Shari Esquenazi, Michelle R Mcdaniel, Kai Zhang, Elaine Symanski, William B Perkison Oct 2020

The Post Hurricane Harvey Respiratory Protection Training Program, Yiyao Li, Christine Bakos-Block, Amal Rammah, Rotem Magal, Joel Adekanye, Shari Esquenazi, Michelle R Mcdaniel, Kai Zhang, Elaine Symanski, William B Perkison

Faculty, Staff and Student Publications

OBJECTIVES: This study evaluated the effectiveness of an outreach program which included safety training and the distribution of personal protection kits in the Houston area in the aftermath of Hurricane Harvey.

METHODS: Outreach: 71 volunteers conducted training sessions at 19 different sites and distributed a total of 1187 kits. Follow-up study: We conducted telephonic interviews to collect data on respiratory symptoms and obtain perceptions of the quality of the safety training provided among 83 participants.

RESULTS: Participants reported an increase in airway symptoms four weeks after Hurricane Harvey. Outreach efforts were felt to be effective by a majority of participants. …


Social Determinants Of Health-Related Needs During Covid-19 Among Low-Income Households With Children, Shreela V Sharma, Ru-Jye Chuang, Melinda Rushing, Brittni Naylor, Nalini Ranjit, Mike Pomeroy, Christine Markham Oct 2020

Social Determinants Of Health-Related Needs During Covid-19 Among Low-Income Households With Children, Shreela V Sharma, Ru-Jye Chuang, Melinda Rushing, Brittni Naylor, Nalini Ranjit, Mike Pomeroy, Christine Markham

Faculty, Staff and Student Publications

INTRODUCTION: Little is known about the social needs of low-income households with children during the coronavirus-2019 (COVID-19) pandemic. Our objective was to conduct a cross-sectional quantitative and qualitative descriptive analysis of a rapid-response survey among low-income households with children on social needs, COVID-19-related concerns, and diet-related behaviors.

METHODS: We distributed an electronic survey in April 2020 to 16,435 families in 4 geographic areas, and 1,048 responded. The survey asked families enrolled in a coordinated school-based nutrition program about their social needs, COVID-19-related concerns, food insecurity, and diet-related behaviors during the pandemic. An open-ended question asked about their greatest concern. We …


Targeted Fgfr Blockade For The Treatment Of Tumor-Induced Osteomalacia, Iris R Hartley, Carole B Miller, Georgios Z Papadakis, Clemens Bergwitz, Jaydira Del Rivero, Jenny E Blau, Pablo Florenzano, Jason A Berglund, Jing Tassone, Kelly L Roszko, Susan Moran, Rachel I Gafni, Randi Isaacs, Michael T Collins Oct 2020

Targeted Fgfr Blockade For The Treatment Of Tumor-Induced Osteomalacia, Iris R Hartley, Carole B Miller, Georgios Z Papadakis, Clemens Bergwitz, Jaydira Del Rivero, Jenny E Blau, Pablo Florenzano, Jason A Berglund, Jing Tassone, Kelly L Roszko, Susan Moran, Rachel I Gafni, Randi Isaacs, Michael T Collins

Faculty, Staff and Student Publications

No abstract provided.


Representation Of Ehr Data For Predictive Modeling: A Comparison Between Umls And Other Terminologies, Laila Rasmy, Firat Tiryaki, Yujia Zhou, Yang Xiang, Cui Tao, Hua Xu, Degui Zhi Oct 2020

Representation Of Ehr Data For Predictive Modeling: A Comparison Between Umls And Other Terminologies, Laila Rasmy, Firat Tiryaki, Yujia Zhou, Yang Xiang, Cui Tao, Hua Xu, Degui Zhi

Faculty, Staff and Student Publications

OBJECTIVE: Predictive disease modeling using electronic health record data is a growing field. Although clinical data in their raw form can be used directly for predictive modeling, it is a common practice to map data to standard terminologies to facilitate data aggregation and reuse. There is, however, a lack of systematic investigation of how different representations could affect the performance of predictive models, especially in the context of machine learning and deep learning.

MATERIALS AND METHODS: We projected the input diagnoses data in the Cerner HealthFacts database to Unified Medical Language System (UMLS) and 5 other terminologies, including CCS, CCSR, …


Canakinumab To Reduce Deterioration Of Cardiac And Respiratory Function In Sars-Cov-2 Associated Myocardial Injury With Heightened Inflammation (Canakinumab In Covid-19 Cardiac Injury: The Three C Study), Calvin C Sheng, Debasis Sahoo, Siddharth Dugar, Robier Aguillon Prada, Tom Kai Ming Wang, Ossama K Abou Hassan, Danielle Brennan, Daniel A Culver, Prabalini Rajendram, Abhijit Duggal, A Michael Lincoff, Steven E Nissen, Venu Menon, Paul C Cremer Oct 2020

Canakinumab To Reduce Deterioration Of Cardiac And Respiratory Function In Sars-Cov-2 Associated Myocardial Injury With Heightened Inflammation (Canakinumab In Covid-19 Cardiac Injury: The Three C Study), Calvin C Sheng, Debasis Sahoo, Siddharth Dugar, Robier Aguillon Prada, Tom Kai Ming Wang, Ossama K Abou Hassan, Danielle Brennan, Daniel A Culver, Prabalini Rajendram, Abhijit Duggal, A Michael Lincoff, Steven E Nissen, Venu Menon, Paul C Cremer

Faculty, Staff and Student Publications

BACKGROUND: In patients with Covid-19, myocardial injury and increased inflammation are associated with morbidity and mortality. We designed a proof-of-concept randomized controlled trial to evaluate whether treatment with canakinumab prevents progressive respiratory failure and worsening cardiac dysfunction in patients with SARS-CoV2 infection, myocardial injury, and high levels of inflammation.

HYPOTHESIS: The primary hypothesis is that canakiumab will shorten time to recovery.

METHODS: The three C study (canakinumab in Covid-19 Cardiac Injury, NCT04365153) is a double-blind, randomized controlled trial comparing canakinumab 300 mg IV, 600 mg IV, or placebo in a 1:1:1 ratio in hospitalized Covid-19 patients with elevations in troponin …


Yebc Regulates Variable Surface Antigen Vlse Expression And Is Required For Host Immune Evasion In Borrelia Burgdorferi, Yan Zhang, Tong Chen, Sajith Raghunandanan, Xuwu Xiang, Jing Yang, Qiang Liu, Diane G Edmondson, Steven J Norris, X Frank Yang, Yongliang Lou Oct 2020

Yebc Regulates Variable Surface Antigen Vlse Expression And Is Required For Host Immune Evasion In Borrelia Burgdorferi, Yan Zhang, Tong Chen, Sajith Raghunandanan, Xuwu Xiang, Jing Yang, Qiang Liu, Diane G Edmondson, Steven J Norris, X Frank Yang, Yongliang Lou

Faculty, Staff and Student Publications

Borrelia burgdorferi, the Lyme disease pathogen causes persistent infection by evading the host immune response. Differential expression of the surface-exposed lipoprotein VlsE that undergoes antigenic variation is a key immune evasion strategy employed by B. burgdorferi. Most studies focused on the mechanism of VlsE antigen variation, but little is known about VlsE regulation and factor(s) that regulates differential vlsE expression. In this study, we investigated BB0025, a putative YebC family transcriptional regulator (and hence designated BB0025 as YebC of B. burgdorferi herein). We constructed yebC mutant and complemented strain in an infectious strain of B. burgdorferi. The yebC mutant could …


Sirolimus For Kaposiform Hemangioendothelioma And Kasabach-Merritt Phenomenon In A Neonate, Trevor B Cabrera, Allison L Speer, Matthew R Greives, Donna A Goff, Neethu M Menon, Eric W Reynolds Oct 2020

Sirolimus For Kaposiform Hemangioendothelioma And Kasabach-Merritt Phenomenon In A Neonate, Trevor B Cabrera, Allison L Speer, Matthew R Greives, Donna A Goff, Neethu M Menon, Eric W Reynolds

Faculty, Staff and Student Publications

We present a case of a neonate born with kaposiform hemangioendothelioma (KHE), complicated by Kasabach-Merritt phenomenon (KMP) and other serious conditions, who was successfully treated with sirolimus. In addition to complications from thrombocytopenia and fluid overload, during the course of therapy, our patient experienced supratherapeutic drug levels at the commonly accepted starting dose of sirolimus. Patients with KHE and KMP should be closely monitored for potential complications of both the initial disease and unexpected side effects of treatments.


Anesthetic Drugs And Cancer Progression, Juan P Cata, Anil K Sood, Holger K Eltzschig Oct 2020

Anesthetic Drugs And Cancer Progression, Juan P Cata, Anil K Sood, Holger K Eltzschig

Faculty, Staff and Student Publications

No abstract provided.


Ampk Regulation Of Raptor And Tsc2 Mediate Metformin Effects On Transcriptional Control Of Anabolism And Inflammation, Jeanine L Van Nostrand, Kristina Hellberg, En-Ching Luo, Eric L Van Nostrand, Alina Dayn, Jingting Yu, Maxim N Shokhirev, Yelena Dayn, Gene W Yeo, Reuben J Shaw Oct 2020

Ampk Regulation Of Raptor And Tsc2 Mediate Metformin Effects On Transcriptional Control Of Anabolism And Inflammation, Jeanine L Van Nostrand, Kristina Hellberg, En-Ching Luo, Eric L Van Nostrand, Alina Dayn, Jingting Yu, Maxim N Shokhirev, Yelena Dayn, Gene W Yeo, Reuben J Shaw

Faculty, Staff and Students Publications

Despite being the frontline therapy for type 2 diabetes, the mechanisms of action of the biguanide drug metformin are still being discovered. In particular, the detailed molecular interplays between the AMPK and the mTORC1 pathway in the hepatic benefits of metformin are still ill defined. Metformin-dependent activation of AMPK classically inhibits mTORC1 via TSC/RHEB, but several lines of evidence suggest additional mechanisms at play in metformin inhibition of mTORC1. Here we investigated the role of direct AMPK-mediated serine phosphorylation of RAPTOR in a new


Mir-30a Targets Gene Networks That Promote Browning Of Human And Mouse Adipocytes, Pradip K Saha, Mark P Hamilton, Kimal Rajapakshe, Vasanta Putluri, Jessica B Felix, Peter Masschelin, Aaron R Cox, Mandeep Bajaj, Nagireddy Putluri, Cristian Coarfa, Sean M Hartig Oct 2020

Mir-30a Targets Gene Networks That Promote Browning Of Human And Mouse Adipocytes, Pradip K Saha, Mark P Hamilton, Kimal Rajapakshe, Vasanta Putluri, Jessica B Felix, Peter Masschelin, Aaron R Cox, Mandeep Bajaj, Nagireddy Putluri, Cristian Coarfa, Sean M Hartig

Faculty, Staff and Students Publications

MicroRNA-30a (miR-30a) impacts adipocyte function, and its expression in white adipose tissue (WAT) correlates with insulin sensitivity in obesity. Bioinformatic analysis demonstrates that miR-30a expression contributes to 2% of all miRNA expression in human tissues. However, molecular mechanisms of miR-30a function in fat cells remain unclear. Here, we expanded our understanding of how miR-30a expression contributes to antidiabetic peroxisome proliferator-activated receptor-γ (PPARγ) agonist activity and metabolic functions in adipocytes. We found that WAT isolated from diabetic patients shows reduced miR-30a levels and diminished expression of the canonical PPARγ target genes ADIPOQ and FABP4 relative to lean counterparts. In human adipocytes, …


An Autism-Linked Missense Mutation In Shank3 Reveals The Modularity Of Shank3 Function, Li Wang, Kaifang Pang, Kihoon Han, Carolyn J Adamski, Wei Wang, Lingjie He, Jason K Lai, Vitaliy V Bondar, Joseph G Duman, Ronald Richman, Kimberley F Tolias, Patrick Barth, Timothy Palzkill, Zhandong Liu, J Lloyd Holder, Huda Y Zoghbi Oct 2020

An Autism-Linked Missense Mutation In Shank3 Reveals The Modularity Of Shank3 Function, Li Wang, Kaifang Pang, Kihoon Han, Carolyn J Adamski, Wei Wang, Lingjie He, Jason K Lai, Vitaliy V Bondar, Joseph G Duman, Ronald Richman, Kimberley F Tolias, Patrick Barth, Timothy Palzkill, Zhandong Liu, J Lloyd Holder, Huda Y Zoghbi

Faculty, Staff and Students Publications

Genome sequencing has revealed an increasing number of genetic variations that are associated with neuropsychiatric disorders. Frequently, studies limit their focus to likely gene-disrupting mutations because they are relatively easy to interpret. Missense variants, instead, have often been undervalued. However, some missense variants can be informative for developing a more profound understanding of disease pathogenesis and ultimately targeted therapies. Here we present an example of this by studying a missense variant in a well-known autism spectrum disorder (ASD) causing gene SHANK3. We analyzed Shank3's in vivo phosphorylation profile and identified S685 as one phosphorylation site where one ASD-linked variant has …


Usability Testing Of A Sensor-Controlled Digital Game To Engage Older Adults With Heart Failure In Physical Activity And Weight Monitoring, Kavita Radhakrishnan, Christine Julien, Matthew O'Hair, Thomas Baranowski, Grace Lee, Catherine Allen, Atami Sagna, Edison Thomaz, Miyong Kim Oct 2020

Usability Testing Of A Sensor-Controlled Digital Game To Engage Older Adults With Heart Failure In Physical Activity And Weight Monitoring, Kavita Radhakrishnan, Christine Julien, Matthew O'Hair, Thomas Baranowski, Grace Lee, Catherine Allen, Atami Sagna, Edison Thomaz, Miyong Kim

Faculty, Staff and Students Publications

BACKGROUND: Poor self-management of heart failure (HF) has contributed to poor health outcomes. Sensor-controlled digital games (SCDGs) integrates data from behavior-tracking sensors to trigger progress, rewards, content, and positive feedback in a digital game to motivate real-time behaviors.

OBJECTIVES: To assess the usability of an SCDG prototype over a week of game-playing among 10 older adults with HF in their homes.

METHODS: During initial play, participants' SCDG experiences were observed in their homes using a checklist based on the seven-item Serious Game User Evaluator (SeGUE) instrument. After a week of game-playing, participants completed a survey guided by the Intrinsic Motivation …


Human Genes Differ By Their Uv Sensitivity Estimated Through Analysis Of Uv-Induced Silent Mutations In Melanoma, Ivan P Gorlov, Christopher I Amos, Spiridon Tsavachidis, Colin Begg, Eva Hernando, Chao Cheng, Ronglai Shen, Irene Orlow, Li Luo, Marc S Ernstoff, Joel Parker, Nancy E Thomas, Olga Y Gorlova, Marianne Berwick Oct 2020

Human Genes Differ By Their Uv Sensitivity Estimated Through Analysis Of Uv-Induced Silent Mutations In Melanoma, Ivan P Gorlov, Christopher I Amos, Spiridon Tsavachidis, Colin Begg, Eva Hernando, Chao Cheng, Ronglai Shen, Irene Orlow, Li Luo, Marc S Ernstoff, Joel Parker, Nancy E Thomas, Olga Y Gorlova, Marianne Berwick

Faculty, Staff and Students Publications

We hypothesized that human genes differ by their sensitivity to ultraviolet (UV) exposure. We used somatic mutations detected by genome-wide screens in melanoma and reported in the Catalog Of Somatic Mutations In Cancer. As a measure of UV sensitivity, we used the number of silent mutations generated by C>T transitions in pyrimidine dimers of a given transcript divided by the number of potential sites for this type of mutations in the transcript. We found that human genes varied by UV sensitivity by two orders of magnitude. We noted that the melanoma-associated tumor suppressor gene CDKN2A was among the top …


Aaim Recommendations For The 2020-2021 Internal Medicine Residency Application Cycle In Response To The Covid-19 Pandemic, Katherine C Chretien, Jaya M Raj, Reeni A Abraham, Paul Aronowitz, Donna J Astiz, Shobhina G Chheda, Ernie L Esquivel, Maria M Garcia, Nadia Ismail, Susan Lane, Suzanne E Mclaughlin, Anne Pereira, Amy W Shaheen, Abby L Spencer, Kimberly M Tartaglia, Lisa L Willett Oct 2020

Aaim Recommendations For The 2020-2021 Internal Medicine Residency Application Cycle In Response To The Covid-19 Pandemic, Katherine C Chretien, Jaya M Raj, Reeni A Abraham, Paul Aronowitz, Donna J Astiz, Shobhina G Chheda, Ernie L Esquivel, Maria M Garcia, Nadia Ismail, Susan Lane, Suzanne E Mclaughlin, Anne Pereira, Amy W Shaheen, Abby L Spencer, Kimberly M Tartaglia, Lisa L Willett

Faculty, Staff and Students Publications

This statement was released in June 2020 by the Alliance for Academic Internal Medicine to provide guidance for the 2020-2021 residency application cycle in light of the COVID-19 pandemic. While many of the recommendations are specific to this cycle, others, such as the Department Summary Letter of Evaluation, are meant to be an enduring change to the internal medicine residency application process. AAIM realizes that some schools may not yet have the tools or resources to implement the template fully this cycle and look toward collaboration within the internal medicine education community to facilitate adoption in the cycles to come.


Versatile Phenotype-Activated Cell Sorting, Jihwan Lee, Zhuohe Liu, Peter H Suzuki, John F Ahrens, Shujuan Lai, Xiaoyu Lu, Sihui Guan, François St-Pierre Oct 2020

Versatile Phenotype-Activated Cell Sorting, Jihwan Lee, Zhuohe Liu, Peter H Suzuki, John F Ahrens, Shujuan Lai, Xiaoyu Lu, Sihui Guan, François St-Pierre

Faculty, Staff and Students Publications

Unraveling the genetic and epigenetic determinants of phenotypes is critical for understanding and re-engineering biology and would benefit from improved methods to separate cells based on phenotypes. Here, we report SPOTlight, a versatile high-throughput technique to isolate individual yeast or human cells with unique spatiotemporal profiles from heterogeneous populations. SPOTlight relies on imaging visual phenotypes by microscopy, precise optical tagging of single target cells, and retrieval of tagged cells by fluorescence-activated cell sorting. To illustrate SPOTlight's ability to screen cells based on temporal properties, we chose to develop a photostable yellow fluorescent protein for extended imaging experiments. We screened 3 …


Acute Hyperkalemia In The Emergency Department: A Summary From A Kidney Disease: Improving Global Outcomes Conference, Gregor Lindner, Emmanuel A Burdmann, Catherine M Clase, Brenda R Hemmelgarn, Charles A Herzog, Jolanta Małyszko, Masahiko Nagahama, Roberto Pecoits-Filho, Zubaid Rafique, Patrick Rossignol, Adam J Singer Oct 2020

Acute Hyperkalemia In The Emergency Department: A Summary From A Kidney Disease: Improving Global Outcomes Conference, Gregor Lindner, Emmanuel A Burdmann, Catherine M Clase, Brenda R Hemmelgarn, Charles A Herzog, Jolanta Małyszko, Masahiko Nagahama, Roberto Pecoits-Filho, Zubaid Rafique, Patrick Rossignol, Adam J Singer

Faculty, Staff and Students Publications

Hyperkalemia is a common electrolyte disorder observed in the emergency department. It is often associated with underlying predisposing conditions, such as moderate or severe kidney disease, heart failure, diabetes mellitus, or significant tissue trauma. Additionally, medications, such as inhibitors of the renin-angiotensin-aldosterone system, potassium-sparing diuretics, nonsteroidal anti-inflammatory drugs, succinylcholine, and digitalis, are associated with hyperkalemia. To this end, Kidney Disease: Improving Global Outcomes (KDIGO) convened a conference in 2018 to identify evidence and address controversies on potassium management in kidney disease. This review summarizes the deliberations and clinical guidance for the evaluation and management of acute hyperkalemia in this setting. …


Implementation Of A Hospital Medicine Rotation And Curriculum For Internal Medicine Residents, Doris Lin, Chirayu Shah, Erica Lescinskas, Cory Ritter, Lindsey Gay Sep 2020

Implementation Of A Hospital Medicine Rotation And Curriculum For Internal Medicine Residents, Doris Lin, Chirayu Shah, Erica Lescinskas, Cory Ritter, Lindsey Gay

Faculty, Staff and Students Publications

INTRODUCTION: Hospital medicine is a growing field that focuses not only on expertise in inpatient medicine but also on knowledge of nonclinical health system topics. The traditional model for resident education does not lend itself to learning these topics. We developed a unique ward rotation with a dedicated curriculum called the Resident Inpatient Training Experience (RITE) to address this deficiency.

METHODS: The RITE rotation was initially implemented in the 2013-2014 academic year. The curriculum accompanying the rotation contained four case-based modules that included content on patient safety, quality improvement, cost-conscious care, hospital metrics/reimbursement, physician billing and coding, and transitions of …


Estrogen/Progesterone Receptor And Her2 Discordance Between Primary Tumor And Brain Metastases In Breast Cancer And Its Effect On Treatment And Survival, Paul W Sperduto, Shane Mesko, Jing Li, Daniel Cagney, Ayal Aizer, Nancy U Lin, Eric Nesbit, Tim J Kruser, Jason Chan, Steve Braunstein, Jessica Lee, John P Kirkpatrick, Will Breen, Paul D Brown, Diana Shi, Helen A Shih, Hany Soliman, Arjun Sahgal, Ryan Shanley, William Sperduto, Emil Lou, Ashlyn Everett, Drexell Hunter Boggs, Laura Masucci, David Roberge, Jill Remick, Kristin Plichta, John M Buatti, Supriya Jain, Laurie E Gaspar, Cheng-Chia Wu, Tony J C Wang, John Bryant, Michael Chuong, James Yu, Veronica Chiang, Toshimichi Nakano, Hidefumi Aoyama, Minesh P Mehta Sep 2020

Estrogen/Progesterone Receptor And Her2 Discordance Between Primary Tumor And Brain Metastases In Breast Cancer And Its Effect On Treatment And Survival, Paul W Sperduto, Shane Mesko, Jing Li, Daniel Cagney, Ayal Aizer, Nancy U Lin, Eric Nesbit, Tim J Kruser, Jason Chan, Steve Braunstein, Jessica Lee, John P Kirkpatrick, Will Breen, Paul D Brown, Diana Shi, Helen A Shih, Hany Soliman, Arjun Sahgal, Ryan Shanley, William Sperduto, Emil Lou, Ashlyn Everett, Drexell Hunter Boggs, Laura Masucci, David Roberge, Jill Remick, Kristin Plichta, John M Buatti, Supriya Jain, Laurie E Gaspar, Cheng-Chia Wu, Tony J C Wang, John Bryant, Michael Chuong, James Yu, Veronica Chiang, Toshimichi Nakano, Hidefumi Aoyama, Minesh P Mehta

Faculty, Staff and Student Publications

BACKGROUND: Breast cancer treatment is based on estrogen receptors (ERs), progesterone receptors (PRs), and human epidermal growth factor receptor 2 (HER2). At the time of metastasis, receptor status can be discordant from that at initial diagnosis. The purpose of this study was to determine the incidence of discordance and its effect on survival and subsequent treatment in patients with breast cancer brain metastases (BCBM).

METHODS: A retrospective database of 316 patients who underwent craniotomy for BCBM between 2006 and 2017 was created. Discordance was considered present if the ER, PR, or HER2 status differed between the primary tumor and the …