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Full-Text Articles in Medical Specialties

Impact Of Cumulative Dose Of Brentuximab Vedotin On Outcomes Of Frontline Therapy For Advanced-Stage Hodgkin Lymphoma, Raphael E Steiner, Steven R Hwang, Arushi Khurana, Thomas M Habermann, Narendranath Epperla, Kaitlin Annunzio, Pamela Blair Allen, Katelin Baird, Darina Paulino, Juan Pablo Alderuccio, Izidore S Lossos, Kevin David, Andrew M Evens, Karan Pandya, Steven M Bair, Manali Kamdar, Sheeba Ba Aqeel, Pallawi Torka, Ryan Lynch, Stephen Smith, Lei Feng, Mansoor Noorani, Sairah Ahmed, Ranjit Nair, Francisco Vega, Susan Wu, Penny Fang, Chelsea C Pinnix, Jillian R Gunther, Bouthaina S Dabaja, Hun J Lee Dec 2023

Impact Of Cumulative Dose Of Brentuximab Vedotin On Outcomes Of Frontline Therapy For Advanced-Stage Hodgkin Lymphoma, Raphael E Steiner, Steven R Hwang, Arushi Khurana, Thomas M Habermann, Narendranath Epperla, Kaitlin Annunzio, Pamela Blair Allen, Katelin Baird, Darina Paulino, Juan Pablo Alderuccio, Izidore S Lossos, Kevin David, Andrew M Evens, Karan Pandya, Steven M Bair, Manali Kamdar, Sheeba Ba Aqeel, Pallawi Torka, Ryan Lynch, Stephen Smith, Lei Feng, Mansoor Noorani, Sairah Ahmed, Ranjit Nair, Francisco Vega, Susan Wu, Penny Fang, Chelsea C Pinnix, Jillian R Gunther, Bouthaina S Dabaja, Hun J Lee

Faculty, Staff and Student Publications

In the pivotal study ECHELON-1, brentuximab vedotin (BV), doxorubicin, vinblastine, and dacarbazine (A + AVD) demonstrated superior efficacy compared with bleomycin + AVD for the treatment of advanced-stage classic Hodgkin lymphoma (cHL). However, there are minimal available data regarding the frequency of dose reductions or omission of BV during curative therapy and the potential impact on patient outcomes. In a real-world analysis, we retrospectively reviewed the characteristics and outcomes of 179 patients with stage III or IV cHL treated with frontline A + AVD from January 2010 to April 2022. Treatment consisted of up to 1.2 mg/kg of BV and …


Impact Of Cumulative Dose Of Brentuximab Vedotin On Outcomes Of Frontline Therapy For Advanced-Stage Hodgkin Lymphoma, Raphael E Steiner, Steven R Hwang, Arushi Khurana, Thomas M Habermann, Narendranath Epperla, Kaitlin Annunzio, Pamela Blair Allen, Katelin Baird, Darina Paulino, Juan Pablo Alderuccio, Izidore S Lossos, Kevin David, Andrew M Evens, Karan Pandya, Steven M Bair, Manali Kamdar, Sheeba Ba Aqeel, Pallawi Torka, Ryan Lynch, Stephen Smith, Lei Feng, Mansoor Noorani, Sairah Ahmed, Ranjit Nair, Francisco Vega, Susan Wu, Penny Fang, Chelsea C Pinnix, Jillian R Gunther, Bouthaina S Dabaja, Hun J Lee Dec 2023

Impact Of Cumulative Dose Of Brentuximab Vedotin On Outcomes Of Frontline Therapy For Advanced-Stage Hodgkin Lymphoma, Raphael E Steiner, Steven R Hwang, Arushi Khurana, Thomas M Habermann, Narendranath Epperla, Kaitlin Annunzio, Pamela Blair Allen, Katelin Baird, Darina Paulino, Juan Pablo Alderuccio, Izidore S Lossos, Kevin David, Andrew M Evens, Karan Pandya, Steven M Bair, Manali Kamdar, Sheeba Ba Aqeel, Pallawi Torka, Ryan Lynch, Stephen Smith, Lei Feng, Mansoor Noorani, Sairah Ahmed, Ranjit Nair, Francisco Vega, Susan Wu, Penny Fang, Chelsea C Pinnix, Jillian R Gunther, Bouthaina S Dabaja, Hun J Lee

Faculty, Staff and Student Publications

In the pivotal study ECHELON-1, brentuximab vedotin (BV), doxorubicin, vinblastine, and dacarbazine (A + AVD) demonstrated superior efficacy compared with bleomycin + AVD for the treatment of advanced-stage classic Hodgkin lymphoma (cHL). However, there are minimal available data regarding the frequency of dose reductions or omission of BV during curative therapy and the potential impact on patient outcomes. In a real-world analysis, we retrospectively reviewed the characteristics and outcomes of 179 patients with stage III or IV cHL treated with frontline A + AVD from January 2010 to April 2022. Treatment consisted of up to 1.2 mg/kg of BV and …


The Effect Of Postoperative Naloxone In Certain Otolaryngologic Surgeries, Natalie M. Perlov, Sohan S. Shah, Joann Bluj, Zachary D. Urdang, Rebecca C. Chiffer Dec 2023

The Effect Of Postoperative Naloxone In Certain Otolaryngologic Surgeries, Natalie M. Perlov, Sohan S. Shah, Joann Bluj, Zachary D. Urdang, Rebecca C. Chiffer

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

OBJECTIVE: To evaluate the association of postoperative naloxone with the development of new substance use disorder (SUD), overdose, and death within 6 months of otolaryngologic surgery.

STUDY DESIGN: Retrospective cohort database study on TriNetX.

METHODS: Adult patients who underwent tonsil surgery (noncancerous), thyroid/parathyroid, septorhinoplasty, otology/neurotology, sinus/anterior skull base, and head and neck cancer surgeries between January 2003 and April 2023. Patients were excluded if they had an instance of SUD or overdose recorded in their charts prior to surgery, or had undergone another surgery within that 6-month time frame. We hypothesized that patients prescribed naloxone postoperatively would have decreased odds …


Integrative Analysis Of Clinicopathological Features Defines Novel Prognostic Models For Mantle Cell Lymphoma In The Immunochemotherapy Era: A Report From The North American Mantle Cell Lymphoma Consortium, Julie M Vose, Kai Fu, Lu Wang, Adnan Mansoor, Douglas Stewart, Hongxia Cheng, Lynette Smith, Ji Yuan, Hina Naushad Qureishi, Brian K Link, Melissa H Cessna, Paul M Barr, Brad S Kahl, Matthew S Mckinney, Nadia Khan, Ranjana H Advani, Peter Martin, Andre H Goy, Tycel J Phillips, Amitkumar Mehta, Manali Kamdar, Michael Crump, Barbara Pro, Christopher R Flowers, Caron A Jacobson, Sonali M Smith, Deborah M Stephens, Veronika Bachanova, Zhaohui Jin, Shishou Wu, Francisco Hernandez-Ilizaliturri, Pallawi Torka, Andrea Anampa-Guzmán, Farshid Kashef, Xing Li, Sunandini Sharma, Timothy C Greiner, James O Armitage, Matthew Lunning, Dennis D Weisenburger, Robert G Bociek, Javeed Iqbal, Guohua Yu, Chengfeng Bi, North American Mantle Cell Lymphoma Consortium Dec 2023

Integrative Analysis Of Clinicopathological Features Defines Novel Prognostic Models For Mantle Cell Lymphoma In The Immunochemotherapy Era: A Report From The North American Mantle Cell Lymphoma Consortium, Julie M Vose, Kai Fu, Lu Wang, Adnan Mansoor, Douglas Stewart, Hongxia Cheng, Lynette Smith, Ji Yuan, Hina Naushad Qureishi, Brian K Link, Melissa H Cessna, Paul M Barr, Brad S Kahl, Matthew S Mckinney, Nadia Khan, Ranjana H Advani, Peter Martin, Andre H Goy, Tycel J Phillips, Amitkumar Mehta, Manali Kamdar, Michael Crump, Barbara Pro, Christopher R Flowers, Caron A Jacobson, Sonali M Smith, Deborah M Stephens, Veronika Bachanova, Zhaohui Jin, Shishou Wu, Francisco Hernandez-Ilizaliturri, Pallawi Torka, Andrea Anampa-Guzmán, Farshid Kashef, Xing Li, Sunandini Sharma, Timothy C Greiner, James O Armitage, Matthew Lunning, Dennis D Weisenburger, Robert G Bociek, Javeed Iqbal, Guohua Yu, Chengfeng Bi, North American Mantle Cell Lymphoma Consortium

Faculty, Staff and Student Publications

BACKGROUND: Patients with mantle cell lymphoma (MCL) exhibit a wide variation in clinical presentation and outcome. However, the commonly used prognostic models are outdated and inadequate to address the needs of the current multidisciplinary management of this disease. This study aims to investigate the clinical and pathological features of MCL in the immunochemotherapy era and improve the prognostic models for a more accurate prediction of patient outcomes.

METHODS: The North American Mantle Cell Lymphoma Project is a multi-institutional collaboration of 23 institutions across North America to evaluate and refine prognosticators for front-line therapy. A total of 586 MCL cases diagnosed …


Aspirin And Nonaspirin Nonsteroidal Antiinflammatory Drug Use And Occurrence Of Colorectal Adenoma In Black American Women, Lauren E Barber, Kimberly A Bertrand, Shanshan Sheehy, Laura F White, Hemant K Roy, Lynn Rosenberg, Julie R Palmer, Jessica L Petrick Dec 2023

Aspirin And Nonaspirin Nonsteroidal Antiinflammatory Drug Use And Occurrence Of Colorectal Adenoma In Black American Women, Lauren E Barber, Kimberly A Bertrand, Shanshan Sheehy, Laura F White, Hemant K Roy, Lynn Rosenberg, Julie R Palmer, Jessica L Petrick

Faculty, Staff and Students Publications

Evidence suggests that aspirin use reduces the occurrence of colorectal neoplasia. Few studies have investigated the association among Black Americans, who are disproportionately burdened by the disease. We assessed aspirin use in relation to colorectal adenoma among Black women. The Black Women's Health Study is a prospective cohort of self-identified Black American women established in 1995. Participants reported regular aspirin use on baseline and follow-up questionnaires. Beginning in 1999, participants reported undergoing a colonoscopy or sigmoidoscopy, the only procedures through which colorectal adenomas can be diagnosed. Multivariable logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals …


Metformin Plus Insulin For Preexisting Diabetes Or Gestational Diabetes In Early Pregnancy: The Mompod Randomized Clinical Trial, Kim A Boggess, Arielle Valint, Jerrie S Refuerzo, Noelia Zork, Ashley N Battarbee, Kacey Eichelberger, Gladys A Ramos, Gayle Olson, Celeste Durnwald, Mark B Landon, Kjersti M Aagaard, Kedra Wallace, Christina Scifres, Todd Rosen, Wadia Mulla, Amy Valent, Sherri Longo, Laura Young, M Alison Marquis, Sonia Thomas, Ashley Britt, Diane Berry Dec 2023

Metformin Plus Insulin For Preexisting Diabetes Or Gestational Diabetes In Early Pregnancy: The Mompod Randomized Clinical Trial, Kim A Boggess, Arielle Valint, Jerrie S Refuerzo, Noelia Zork, Ashley N Battarbee, Kacey Eichelberger, Gladys A Ramos, Gayle Olson, Celeste Durnwald, Mark B Landon, Kjersti M Aagaard, Kedra Wallace, Christina Scifres, Todd Rosen, Wadia Mulla, Amy Valent, Sherri Longo, Laura Young, M Alison Marquis, Sonia Thomas, Ashley Britt, Diane Berry

Faculty, Staff and Student Publications

IMPORTANCE: Insulin is recommended for pregnant persons with preexisting type 2 diabetes or diabetes diagnosed early in pregnancy. The addition of metformin to insulin may improve neonatal outcomes.

OBJECTIVE: To estimate the effect of metformin added to insulin for preexisting type 2 or diabetes diagnosed early in pregnancy on a composite adverse neonatal outcome.

DESIGN, SETTING, AND PARTICIPANTS: This randomized clinical trial in 17 US centers enrolled pregnant adults aged 18 to 45 years with preexisting type 2 diabetes or diabetes diagnosed prior to 23 weeks' gestation between April 2019 and November 2021. Each participant was treated with insulin and …


Detection Of Prions In The Urine Of Patients Affected By Sporadic Creutzfeldt-Jakob Disease, M Talke Dec 2023

Detection Of Prions In The Urine Of Patients Affected By Sporadic Creutzfeldt-Jakob Disease, M Talke

Faculty, Staff and Student Publications

Objective

Currently, it is unknown whether infectious prions are present in peripheral tissues and biological fluids of patients affected by sporadic Creutzfeldt–Jakob disease (sCJD), the most common prion disorder in humans. This represents a potential risk for inter‐individual prion infection. The main goal of this study was to evaluate the presence of prions in urine of patients suffering from the major subtypes of sCJD.

Methods

Urine samples from sCJD patients spanning the six major subtypes were tested. As controls, we used urine samples from people affected by other neurological or neurodegenerative diseases as well as healthy controls. These samples were …


Effectiveness Of Conservative Management Versus Laparoscopic Cholecystectomy In The Prevention Of Recurrent Symptoms And Complications In Adults With Uncomplicated Symptomatic Gallstone Disease (C-Gall Trial): Pragmatic, Multicentre Randomised Controlled Trial, Irfan Ahmed, Jemma Hudson, Karen Innes, Rodolfo Hernández, Katie Gillies, Rebecca Bruce, Victoria Bell, Alison Avenell, Jane Blazeby, Miriam Brazzelli, Seonaidh Cotton, Bernard Croal, Mark Forrest, Graeme Maclennan, Peter Murchie, Samantha Wileman, Craig Ramsay, C-Gall Study Group Dec 2023

Effectiveness Of Conservative Management Versus Laparoscopic Cholecystectomy In The Prevention Of Recurrent Symptoms And Complications In Adults With Uncomplicated Symptomatic Gallstone Disease (C-Gall Trial): Pragmatic, Multicentre Randomised Controlled Trial, Irfan Ahmed, Jemma Hudson, Karen Innes, Rodolfo Hernández, Katie Gillies, Rebecca Bruce, Victoria Bell, Alison Avenell, Jane Blazeby, Miriam Brazzelli, Seonaidh Cotton, Bernard Croal, Mark Forrest, Graeme Maclennan, Peter Murchie, Samantha Wileman, Craig Ramsay, C-Gall Study Group

Faculty, Staff and Student Publications

OBJECTIVE: To assess the clinical and cost effectiveness of conservative management compared with laparoscopic cholecystectomy for the prevention of symptoms and complications in adults with uncomplicated symptomatic gallstone disease.

DESIGN: Parallel group, pragmatic randomised, superiority trial.

SETTING: 20 secondary care centres in the UK.

PARTICIPANTS: 434 adults (>18 years) with uncomplicated symptomatic gallstone disease referred to secondary care, assessed for eligibility between August 2016 and November 2019, and randomly assigned (1:1) to receive conservative management or laparoscopic cholecystectomy.

INTERVENTIONS: Conservative management or surgical removal of the gallbladder.

MAIN OUTCOME MEASURES: The primary patient outcome was quality of life, measured …


Agreement Between Published Reference Resources For Neurofilament Light Chain Levels In People With Multiple Sclerosis., Elias S Sotirchos, Chen Hu, Matthew D Smith, Hannah-Noelle Lord, Anna L Duval, Georgina Arrambide, Xavier Montalban, Katja Akgün, Tjalf Ziemssen, Robert T Naismith, Carrie M Hersh, Megan Hyland, Lauren B Krupp, Jacqueline A Nicholas, Robert A Bermel, Ellen M Mowry, Peter A Calabresi, Kathryn C Fitzgerald Dec 2023

Agreement Between Published Reference Resources For Neurofilament Light Chain Levels In People With Multiple Sclerosis., Elias S Sotirchos, Chen Hu, Matthew D Smith, Hannah-Noelle Lord, Anna L Duval, Georgina Arrambide, Xavier Montalban, Katja Akgün, Tjalf Ziemssen, Robert T Naismith, Carrie M Hersh, Megan Hyland, Lauren B Krupp, Jacqueline A Nicholas, Robert A Bermel, Ellen M Mowry, Peter A Calabresi, Kathryn C Fitzgerald

Neuroscience Articles

OBJECTIVES: To examine the agreement between published reference resources for neurofilament light chain (NfL) applied to a large population of people with multiple sclerosis (MS).

METHODS: Six published reference resources were used to classify NfL in participants in the Multiple Sclerosis Partners Advancing Technology and Health Solutions (MS PATHS) network as elevated or normal and to derive age-specific NfL

RESULTS: NfL measurements were assessed from 12,855 visits of 6,687 people with MS (median 2 samples per individual [range 1-7]). The mean ± SD age was 47.1 ± 11.7 years, 72.1% of participants were female, disease duration was 15.0 ± 10.6 …


Feasibility Of A Food-Based Diabetes Self-Management Education Intervention For Food Insecure Patients With Type 2 Diabetes: A Convergent Mixed Methods Study, Eliza Short, Debbe Thompson, Douglas Taren, Holly Bryant, Rhonda Gonzalez, Jessi Sheava, Melanie Hingle Dec 2023

Feasibility Of A Food-Based Diabetes Self-Management Education Intervention For Food Insecure Patients With Type 2 Diabetes: A Convergent Mixed Methods Study, Eliza Short, Debbe Thompson, Douglas Taren, Holly Bryant, Rhonda Gonzalez, Jessi Sheava, Melanie Hingle

Children’s Nutrition Research Center Staff Publications

Objective: To assess the feasibility of a food-based diabetes self-management education and support (DSMES) intervention delivered to persons with type 2 diabetes (T2DM) and food insecurity.

Design: This single arm pre-/post convergent mixed methods study tested the feasibility of a 3-month intervention using food boxes, recipes, DSMES and dietitian visits. Feasibility benchmarks assessed were acceptability (> 50 % participants satisfied), demand (> 50 % used program components) and implementation (75 % adherence, 80 % retention). Assessments included: self-reported food security, health-related quality of life, diabetes self-efficacy, socio-demographic and dietary intake, height, weight, and HbA1c and one in-depth interview with participants …


Polypharmacy And Medication Fill Nonadherence In A Population-Based Sample Of Adolescent And Young Adult Cancer Survivors, 2008–2017, Andrea C Betts, Caitlin C Murphy, L Aubree Shay, Bijal A Balasubramanian, Christine Markham, Michael E Roth, Marlyn Allicock Dec 2023

Polypharmacy And Medication Fill Nonadherence In A Population-Based Sample Of Adolescent And Young Adult Cancer Survivors, 2008–2017, Andrea C Betts, Caitlin C Murphy, L Aubree Shay, Bijal A Balasubramanian, Christine Markham, Michael E Roth, Marlyn Allicock

Faculty, Staff and Student Publications

PURPOSE: We examined the association between polypharmacy-an established risk factor for nonadherence in the elderly-and medication fill nonadherence in a large national sample of adolescent and young adult cancer survivors (AYAs) in the USA.

METHODS: We pooled data (2008-2017) from the Medical Expenditure Panel Survey. We defined polypharmacy as ≥ 3 unique medications prescribed, based on self-report and pharmacy data, and medication fill nonadherence as self-reported delay or inability to obtain a necessary medication. We estimated prevalence of medication fill nonadherence among AYAs (age 18-39 years with a cancer history). We used logistic regression to estimate the association between (1) …


Alignment Between 24-H Light-Dark And Activity-Rest Rhythms Is Associated With Diabetes And Glucose Metabolism In A Nationally Representative Sample Of American Adults, Qian Xiao, John Durbin, Cici Bauer, Chris Ho Ching Yeung, Mariana G Figueiro Dec 2023

Alignment Between 24-H Light-Dark And Activity-Rest Rhythms Is Associated With Diabetes And Glucose Metabolism In A Nationally Representative Sample Of American Adults, Qian Xiao, John Durbin, Cici Bauer, Chris Ho Ching Yeung, Mariana G Figueiro

Faculty, Staff and Student Publications

OBJECTIVE: The alignment between environmental stimuli (e.g., dark, light) and behavior cycles (e.g., rest, activity) is an essential feature of the circadian timing system, a key contributor to metabolic health. However, no previous studies have investigated light-activity alignment in relation to glycemic control in human populations.

RESEARCH DESIGN AND METHODS: The analysis included ∼7,000 adults (aged 20-80 years) from the National Health and Nutrition Examination Survey (NHANES) (2011-2014) with actigraphy-measured, multiday, 24-h activity and light data. We used phasor analysis to derive phasor magnitude and phasor angle, which measures coupling strength and phase difference between the activity-rest and light-dark cycles, …


Leukocyte Cell-Derived Chemotaxin 2 Correlates With Pediatric Non-Alcoholic Fatty Liver Disease., Diego Paine-Cabrera, Lisa Harvey, Dakota R. Robarts, Michele T. Pritchard, John Thyfault, Steven A. Weinman, Udayan Apte, Voytek Slowik Dec 2023

Leukocyte Cell-Derived Chemotaxin 2 Correlates With Pediatric Non-Alcoholic Fatty Liver Disease., Diego Paine-Cabrera, Lisa Harvey, Dakota R. Robarts, Michele T. Pritchard, John Thyfault, Steven A. Weinman, Udayan Apte, Voytek Slowik

Manuscripts, Articles, Book Chapters and Other Papers

Non-alcoholic fatty liver disease (NAFLD), newly renamed metabolic dysfunction-associated liver disease (MASLD), is a leading cause of liver disease in children and adults. There is a paucity of data surrounding potential biomarkers and therapeutic targets, especially in pediatric NAFLD. Leukocyte cell-derived chemotaxin 2 (LECT2) is a chemokine associated with both liver disease and skeletal muscle insulin resistance. Our aim was to determine associations between LECT2 and common clinical findings of NAFLD in pediatric patients. Enzyme-linked immunosorbent assay (ELISA) was used to measure serum LECT2 concentrations in children (aged 2-17 years) with and without NAFLD. LECT2 concentrations were then correlated to …


Characteristics And Outcomes Of Patients With Pregnancy-Related End-Stage Kidney Disease., Lauren Kucirka, Ana Angarita, Tracy Manuck, Kim Boggess, Vimal Derebail, Mollie Wood, Michelle Meyer, Dorry Segev, Monica Reynolds Dec 2023

Characteristics And Outcomes Of Patients With Pregnancy-Related End-Stage Kidney Disease., Lauren Kucirka, Ana Angarita, Tracy Manuck, Kim Boggess, Vimal Derebail, Mollie Wood, Michelle Meyer, Dorry Segev, Monica Reynolds

Department of Obstetrics and Gynecology Faculty Papers

IMPORTANCE: The incidence of pregnancy-related acute kidney injury is increasing and is associated with significant maternal morbidity including progression to end-stage kidney disease (ESKD). Little is known about characteristics and long-term outcomes of patients who develop pregnancy-related ESKD.

OBJECTIVES: To examine the characteristics and clinical outcomes of patients with pregnancy-related ESKD and to investigate associations between pre-ESKD nephrology care and outcomes.

DESIGN, SETTING, AND PARTICIPANTS: This was a cohort study of 183 640 reproductive-aged women with incident ESKD between January 1, 2000, and November 20, 2020, from the US Renal Data System and maternal data from births captured in the …


Both/And: Mixed Methods Analysis Of Network Composition, Communication Patterns, And Socio-Economic Support Within Social Networks Of Transgender Women Involved In Sex Work In Lima, Peru, Tijana Temelkovska, Kathleen Moriarty, Leyla Huerta, Amaya G Perez-Brumer, Eddy R Segura, Ryan Colby Passaro, Jordan E Lake, Jesse L Clark, Cheríe S Blair Dec 2023

Both/And: Mixed Methods Analysis Of Network Composition, Communication Patterns, And Socio-Economic Support Within Social Networks Of Transgender Women Involved In Sex Work In Lima, Peru, Tijana Temelkovska, Kathleen Moriarty, Leyla Huerta, Amaya G Perez-Brumer, Eddy R Segura, Ryan Colby Passaro, Jordan E Lake, Jesse L Clark, Cheríe S Blair

Faculty, Staff and Student Publications

Introduction: Social networks contribute to normative reinforcement of HIV prevention strategies, knowledge sharing, and social capital, but little research has characterized the social networks of transgender women (TW) in Latin America. We conducted a mixed methods analysis of three network clusters of TW in Lima, Peru, to evaluate network composition, types of support exchanged, and patterns of communication.

Methods: We recruited TW residing in or affiliated with three "casas trans" (houses shared among TW) in Lima between April-May 2018. Eligible participants were 18 or older, self-reported HIV-negative, and reported recent intercourse with a cis-male partner. Participants completed demographic questionnaires, social …


Genome-Wide Significant Risk Loci For Mood Disorders In The Old Order Amish Founder Population, Elizabeth M Humphries, Kwangmi Ahn, Rachel L Kember, Fabiana L Lopes, Evelina Mocci, Juan M Peralta, John Blangero, David C Glahn, Fernando S Goes, Peter P Zandi, Peter Kochunov, Cristopher Van Hout, Alan R Shuldiner, Toni I Pollin, Braxton D Mitchell, Maja Bucan, L Elliot Hong, Francis J Mcmahon, Seth A Ament Dec 2023

Genome-Wide Significant Risk Loci For Mood Disorders In The Old Order Amish Founder Population, Elizabeth M Humphries, Kwangmi Ahn, Rachel L Kember, Fabiana L Lopes, Evelina Mocci, Juan M Peralta, John Blangero, David C Glahn, Fernando S Goes, Peter P Zandi, Peter Kochunov, Cristopher Van Hout, Alan R Shuldiner, Toni I Pollin, Braxton D Mitchell, Maja Bucan, L Elliot Hong, Francis J Mcmahon, Seth A Ament

Faculty, Staff and Student Publications

Genome-wide association studies (GWAS) of mood disorders in large case-control cohorts have identified numerous risk loci, yet pathophysiological mechanisms remain elusive, primarily due to the very small effects of common variants. We sought to discover risk variants with larger effects by conducting a genome-wide association study of mood disorders in a founder population, the Old Order Amish (OOA, n = 1,672). Our analysis revealed four genome-wide significant risk loci, all of which were associated with >2-fold relative risk. Quantitative behavioral and neurocognitive assessments (n = 314) revealed effects of risk variants on sub-clinical depressive symptoms and information processing speed. Network …


Empagliflozin In Patients Admitted To Hospital With Covid-19 (Recovery): A Randomised, Controlled, Open-Label, Platform Trial, Recovery Collaborative Group Dec 2023

Empagliflozin In Patients Admitted To Hospital With Covid-19 (Recovery): A Randomised, Controlled, Open-Label, Platform Trial, Recovery Collaborative Group

Faculty, Staff and Student Publications

BACKGROUND: Empagliflozin has been proposed as a treatment for COVID-19 on the basis of its anti-inflammatory, metabolic, and haemodynamic effects. The RECOVERY trial aimed to assess its safety and efficacy in patients admitted to hospital with COVID-19.

METHODS: In the randomised, controlled, open-label RECOVERY trial, several possible treatments are compared with usual care in patients hospitalised with COVID-19. In this analysis, we assess eligible and consenting adults who were randomly allocated in a 1:1 ratio to either usual standard of care alone or usual standard of care plus oral empagliflozin 10 mg once daily for 28 days or until discharge …


Nurse Care Management For Opioid Use Disorder Treatment: The Proud Cluster Randomized Clinical Trial, Paige D Wartko, Jennifer F Bobb, Denise M Boudreau, Abigail G Matthews, Jennifer Mccormack, Amy K Lee, Hongxiang Qiu, Onchee Yu, Noorie Hyun, Abisola E Idu, Cynthia I Campbell, Andrew J Saxon, David S Liu, Andrea Altschuler, Jeffrey H Samet, Colleen T Labelle, Mohammad Zare-Mehrjerdi, Angela L Stotts, Jordan M Braciszewski, Mark T Murphy, Douglas Dryden, Julia H Arnsten, Chinazo O Cunningham, Viviana E Horigian, José Szapocznik, Joseph E Glass, Ryan M Caldeiro, Rebecca C Phillips, Mary Shea, Gavin Bart, Robert P Schwartz, Jennifer Mcneely, Jane M Liebschutz, Judith I Tsui, Joseph O Merrill, Gwen T Lapham, Megan Addis, Katharine A Bradley, Proud Trial Collaborators, Megan M Ghiroli, Leah K Hamilton, Yong Hu, Jennifer S Lahue, Amy M Loree, Sean M Murphy, Thomas F Northrup, Dikla Shmueli-Blumberg, Angela J Silva, Zoe M Weinstein, Mark Tinfook Wong, Rachael P Burganowski Dec 2023

Nurse Care Management For Opioid Use Disorder Treatment: The Proud Cluster Randomized Clinical Trial, Paige D Wartko, Jennifer F Bobb, Denise M Boudreau, Abigail G Matthews, Jennifer Mccormack, Amy K Lee, Hongxiang Qiu, Onchee Yu, Noorie Hyun, Abisola E Idu, Cynthia I Campbell, Andrew J Saxon, David S Liu, Andrea Altschuler, Jeffrey H Samet, Colleen T Labelle, Mohammad Zare-Mehrjerdi, Angela L Stotts, Jordan M Braciszewski, Mark T Murphy, Douglas Dryden, Julia H Arnsten, Chinazo O Cunningham, Viviana E Horigian, José Szapocznik, Joseph E Glass, Ryan M Caldeiro, Rebecca C Phillips, Mary Shea, Gavin Bart, Robert P Schwartz, Jennifer Mcneely, Jane M Liebschutz, Judith I Tsui, Joseph O Merrill, Gwen T Lapham, Megan Addis, Katharine A Bradley, Proud Trial Collaborators, Megan M Ghiroli, Leah K Hamilton, Yong Hu, Jennifer S Lahue, Amy M Loree, Sean M Murphy, Thomas F Northrup, Dikla Shmueli-Blumberg, Angela J Silva, Zoe M Weinstein, Mark Tinfook Wong, Rachael P Burganowski

Faculty, Staff and Student Publications

Importance: Few primary care (PC) practices treat patients with medications for opioid use disorder (OUD) despite availability of effective treatments.

Objective: To assess whether implementation of the Massachusetts model of nurse care management for OUD in PC increases OUD treatment with buprenorphine or extended-release injectable naltrexone and secondarily decreases acute care utilization.

Design, setting, and participants: The Primary Care Opioid Use Disorders Treatment (PROUD) trial was a mixed-methods, implementation-effectiveness cluster randomized clinical trial conducted in 6 diverse health systems across 5 US states (New York, Florida, Michigan, Texas, and Washington). Two PC clinics in each system were randomized to intervention …


Development And Validation Of Age-Specific Risk Prediction Models For Primary Ovarian Insufficiency In Long-Term Survivors Of Childhood Cancer: A Report From The Childhood Cancer Survivor Study And St Jude Lifetime Cohort, Cindy Im, Zhe Lu, Sogol Mostoufi-Moab, Angela Delaney, Lin Yu, Jessica L Baedke, Yutong Han, Yadav Sapkota, Yutaka Yasui, Eric J Chow, Rebecca M Howell, Smita Bhatia, Melissa M Hudson, Kirsten K Ness, Gregory T Armstrong, Paul C Nathan, Yan Yuan Dec 2023

Development And Validation Of Age-Specific Risk Prediction Models For Primary Ovarian Insufficiency In Long-Term Survivors Of Childhood Cancer: A Report From The Childhood Cancer Survivor Study And St Jude Lifetime Cohort, Cindy Im, Zhe Lu, Sogol Mostoufi-Moab, Angela Delaney, Lin Yu, Jessica L Baedke, Yutong Han, Yadav Sapkota, Yutaka Yasui, Eric J Chow, Rebecca M Howell, Smita Bhatia, Melissa M Hudson, Kirsten K Ness, Gregory T Armstrong, Paul C Nathan, Yan Yuan

Faculty, Staff and Student Publications

BACKGROUND: Female survivors of childhood cancer are at risk for primary ovarian insufficiency (POI), defined as the cessation of gonadal function before the age of 40 years. We aimed to develop and validate models to predict age-specific POI risk among long-term survivors of childhood cancer.

METHODS: To develop models to predict age-specific POI risk for the ages of 21-40 years, we used data from the Childhood Cancer Survivor Study (CCSS). Female survivors aged 18 years or older at their latest follow-up, with self-reported menstrual history information and free of subsequent malignant neoplasms within 5 years of diagnosis, were included. We …


Poor Sit-To-Stand Performance In Adolescent And Young Adult Patients With Sarcoma, Savannah V Wooten, Behrang Amini, J Andrew Livingston, Michelle A T Hildebrandt, Joya Chandra, Susan C Gilchrist, Michael Roth, Eugenie Kleinerman Dec 2023

Poor Sit-To-Stand Performance In Adolescent And Young Adult Patients With Sarcoma, Savannah V Wooten, Behrang Amini, J Andrew Livingston, Michelle A T Hildebrandt, Joya Chandra, Susan C Gilchrist, Michael Roth, Eugenie Kleinerman

Faculty, Staff and Student Publications

Background: Adolescents and young adult (AYA) patients with sarcoma are at heightened risk of reduced physical capacity and disease-related weakness. Sit-to-stand (STS) performance correlates with lower extremity functionality and activities of daily living; however, little is known regarding the relationship between muscular status and STS performance in patients with sarcoma. This study assessed STS performance in patients with sarcoma and the association between STS performance and the skeletal muscle index (SMI) and skeletal muscle density (SMD).

Methods: This study included 30 patients with sarcoma (15-39 years old) treated with high-dose doxorubicin. Patients performed the five-times-STS test before starting treatment and …


Outcomes Of Autologous Stem Cell Transplantation In Patients With Ultra-High-Risk Multiple Myeloma, Oren Pasvolsky, Sassine Ghanem, Denái R Milton, Adeel Masood, Mark R Tanner, Qaiser Bashir, Samer Srour, Neeraj Saini, Paul Lin, Jeremy Ramdial, Yago Nieto, Hans C Lee, Krina K Patel, Partow Kebriaei, Sheeba K Thomas, Donna M Weber, Robert Z Orlowski, Elizabeth J Shpall, Richard E Champlin, Muzaffar H Qazilbash Dec 2023

Outcomes Of Autologous Stem Cell Transplantation In Patients With Ultra-High-Risk Multiple Myeloma, Oren Pasvolsky, Sassine Ghanem, Denái R Milton, Adeel Masood, Mark R Tanner, Qaiser Bashir, Samer Srour, Neeraj Saini, Paul Lin, Jeremy Ramdial, Yago Nieto, Hans C Lee, Krina K Patel, Partow Kebriaei, Sheeba K Thomas, Donna M Weber, Robert Z Orlowski, Elizabeth J Shpall, Richard E Champlin, Muzaffar H Qazilbash

Faculty, Staff and Student Publications

Multiple myeloma (MM) patients with high-risk cytogenetic abnormalities have inferior survival outcomes and are underrepresented in clinical trials. There is scarce data on MM patients with more than one high-risk cytogenetic aberration (ie, ultra- high-risk MM). This study was conducted to evaluate outcomes of newly diagnosed MM patients with ultra-high-risk MM who underwent autologous hematopoietic stem cell transplantation (autoHCT). We conducted a retrospective single-center chart review analysis of adult patients with ultra-high-risk MM who underwent autoHCT between 2008 and 2018 at MD Anderson Cancer Center. High-risk cytogenetics were defined as del(17p), t(4;14), t(14;16), or 1q21 gain or amplification (1q+) by …


Disparities In Computed Tomography Utilization For Pediatric Blunt Trauma: A Systematic Review And Meta-Analysis Comparing Pediatric And Non-Pediatric Trauma Centers, Amir Hassankhani, Parya Valizadeh, Melika Amoukhteh, Payam Jannatdoust, Nikoo Saeedi, Paniz Sabeghi, Delaram J Ghadimi, Jennifer H Johnston, Ali Gholamrezanezhad Dec 2023

Disparities In Computed Tomography Utilization For Pediatric Blunt Trauma: A Systematic Review And Meta-Analysis Comparing Pediatric And Non-Pediatric Trauma Centers, Amir Hassankhani, Parya Valizadeh, Melika Amoukhteh, Payam Jannatdoust, Nikoo Saeedi, Paniz Sabeghi, Delaram J Ghadimi, Jennifer H Johnston, Ali Gholamrezanezhad

Faculty, Staff and Student Publications

Pediatric blunt trauma is a major cause of morbidity and mortality, and computed tomography (CT) imaging is vital for accurate evaluation and management. Pediatric trauma centers (PTCs) have selective CT practices, while non-PTCs may differ, resulting in potential variations in CT utilization. The objective of this study is to delineate disparities in CT utilization for pediatric blunt trauma patients between PTCs and non-PTCs. A systematic review and meta-analysis were conducted following established guidelines, searching PubMed, Scopus, and Web of Science up to March 3, 2023. All studies examining CT utilization in the management of pediatric (aged < 21 years) blunt trauma and specifying the type of trauma center(s) were included, and data were extracted and analyzed using STATA software version 17.0. An analysis of 30 studies revealed significant variations in CT scan utilization among pediatric blunt trauma patients across different types of trauma centers. PTCs exhibited lower pooled rates of abdominopelvic CT scans (35.4% vs. 44.9%, p < 0.01), cranial CT scans (36.9% vs. 42.9%, p < 0.01), chest CT scans (14.5% vs. 25.4%, p < 0.01), and cervical spine CT scans (23% vs. 45%, p < 0.01) compared to adult or mixed trauma centers (ATCs/MTCs). PTCs had a pooled rate of 54% for receiving at least one CT scan, while ATCs/MTCs had a higher rate of 69.3% (p < 0.05). The studies demonstrated considerable heterogeneity. These findings underscore the need to conduct further research to understand the reasons for the observed variations and to promote appropriate imaging usage, minimize radiation exposure, and encourage collaboration between pediatric and adult trauma centers.


Clinico-Genomic Profiling Of Conventional And Dedifferentiated Chondrosarcomas Reveals Tp53 Mutation To Be Associated With Worse Outcomes, Ryan A Denu, Richard K Yang, Alexander J Lazar, Shalin S Patel, Valerae O Lewis, Jason Roszik, J Andrew Livingston, Wei-Lien Wang, Kenna R Shaw, Ravin Ratan, Maria A Zarzour, Justin Bird, Shaan Raza, Kadir C Akdemir, Jordi Rodon Ahnert, Vivek Subbiah, Shreyaskumar Patel, Anthony P Conley Dec 2023

Clinico-Genomic Profiling Of Conventional And Dedifferentiated Chondrosarcomas Reveals Tp53 Mutation To Be Associated With Worse Outcomes, Ryan A Denu, Richard K Yang, Alexander J Lazar, Shalin S Patel, Valerae O Lewis, Jason Roszik, J Andrew Livingston, Wei-Lien Wang, Kenna R Shaw, Ravin Ratan, Maria A Zarzour, Justin Bird, Shaan Raza, Kadir C Akdemir, Jordi Rodon Ahnert, Vivek Subbiah, Shreyaskumar Patel, Anthony P Conley

Faculty, Staff and Student Publications

PURPOSE: Chondrosarcomas are the most common primary bone tumor in adults. Isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations are prevalent. We aimed to assess the clinico-genomic properties of IDH mutant versus IDH wild-type (WT) chondrosarcomas as well as alterations in other genes.

EXPERIMENTAL DESIGN: We included 93 patients with conventional and dedifferentiated chondrosarcoma for which there were available clinical next-generation sequencing data. Clinical and genomic data were extracted and compared between IDH mutant and IDH WT chondrosarcomas and between TP53 mutant and TP53 WT chondrosarcomas.

RESULTS: IDH1 and IDH2 mutations are prevalent in chondrosarcoma (50.5%), more common in chondrosarcomas arising …


Larotrectinib Efficacy And Safety In Adult Patients With Tropomyosin Receptor Kinase Fusion Sarcomas, Shivaani Kummar, Lin Shen, David S Hong, Ray Mcdermott, Vicki L Keedy, Michela Casanova, George D Demetri, Afshin Dowlati, Soledad Gallego Melcón, Ulrik N Lassen, Serge Leyvraz, Tianshu Liu, Victor Moreno, Jyoti Patel, Tejas Patil, Atrayee Basu Mallick, Nuno Sousa, Makoto Tahara, David S Ziegler, Ricarda Norenberg, Pierre Arvis, Nicoletta Brega, Alexander Drilon, Daniel S W Tan Dec 2023

Larotrectinib Efficacy And Safety In Adult Patients With Tropomyosin Receptor Kinase Fusion Sarcomas, Shivaani Kummar, Lin Shen, David S Hong, Ray Mcdermott, Vicki L Keedy, Michela Casanova, George D Demetri, Afshin Dowlati, Soledad Gallego Melcón, Ulrik N Lassen, Serge Leyvraz, Tianshu Liu, Victor Moreno, Jyoti Patel, Tejas Patil, Atrayee Basu Mallick, Nuno Sousa, Makoto Tahara, David S Ziegler, Ricarda Norenberg, Pierre Arvis, Nicoletta Brega, Alexander Drilon, Daniel S W Tan

Faculty, Staff and Student Publications

Background: Larotrectinib, a first-in-class, highly selective tropomyosin receptor kinase (TRK) inhibitor, has demonstrated efficacy in adult and pediatric patients with various solid tumors harboring NTRK gene fusions. This subset analysis focuses on the efficacy and safety of larotrectinib in an expanded cohort of adult patients with TRK fusion sarcomas.

Methods: Patients (≥18 years old) with sarcomas harboring NTRK gene fusions were identified from three clinical trials. Patients received larotrectinib 100 mg orally twice daily. Response was investigator-assessed per RECIST v1.1. Data cutoff was July 20, 2021.

Results: At the data cutoff, 36 adult patients with TRK fusion sarcomas had initiated …


The Risk Index As A Basis For Risk/Benefit Analyses And Protocol Optimization In Diagnostic Nuclear Imaging, Juan C Ocampo Ramos, Lukas M Carter, Justin L Brown, Harry Marquis, Carlos F Uribe, Pat B Zanzonico, Wesley E Bolch, Adam L Kesner Dec 2023

The Risk Index As A Basis For Risk/Benefit Analyses And Protocol Optimization In Diagnostic Nuclear Imaging, Juan C Ocampo Ramos, Lukas M Carter, Justin L Brown, Harry Marquis, Carlos F Uribe, Pat B Zanzonico, Wesley E Bolch, Adam L Kesner

Faculty, Staff and Student Publications

Background: Potential risk associated with low-dose radiation exposures is often expressed using the effective dose (E) quantity. Other risk-related quantities have been proposed as alternatives. The recently introduced risk index (RI) shares similarities with E but expands the metric to incorporate medical imaging-appropriate risks factors including patient-specific size, age, and sex.

Purpose: The aim of this work is to examine the RI metric for quantifying stochastic radiation risk and demonstrate its applications in nuclear imaging. The advantages in this improved metric may help the field progress toward stratified risk consideration in the course of patient management, improve efforts for procedure …


Associations Between Avocado Intake And Measures Of Glucose And Insulin Homeostasis In Hispanic Individuals With And Without Type 2 Diabetes: Results From The Hispanic Community Health Study/Study Of Latinos (Hchs/Sol), Mackenzie K Senn, Mark O Goodarzi, Gautam Ramesh, Matthew A Allison, Mariaelisa Graff, Kristin L Young, Gregory A Talavera, Amanda C Mcclain, Tanya P Garcia, Jerome I Rotter, Alexis C Wood Dec 2023

Associations Between Avocado Intake And Measures Of Glucose And Insulin Homeostasis In Hispanic Individuals With And Without Type 2 Diabetes: Results From The Hispanic Community Health Study/Study Of Latinos (Hchs/Sol), Mackenzie K Senn, Mark O Goodarzi, Gautam Ramesh, Matthew A Allison, Mariaelisa Graff, Kristin L Young, Gregory A Talavera, Amanda C Mcclain, Tanya P Garcia, Jerome I Rotter, Alexis C Wood

Faculty, Staff and Students Publications

BACKGROUND AND AIMS: To investigate associations between avocado intake and glycemia in adults with Hispanic/Latino ancestry.

METHODS AND RESULTS: The associations of avocado intake with measures of insulin and glucose homeostasis were evaluated in a cross-sectional analysis of up to 14,591 Hispanic/Latino adults, using measures of: average glucose levels (hemoglobin A1c; HbA1c), fasting glucose and insulin, glucose and insulin levels after an oral glucose tolerance test (OGTT), and calculated measures of insulin resistance (HOMA-IR, and HOMA-%β), and insulinogenic index. Associations were assessed using multivariable linear regression models, which controlled for sociodemographic factors and health behaviors, and which were stratified by …


Biallelic Med27 Variants Lead To Variable Ponto-Cerebello-Lental Degeneration With Movement Disorders, Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino Dec 2023

Biallelic Med27 Variants Lead To Variable Ponto-Cerebello-Lental Degeneration With Movement Disorders, Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino

Faculty, Staff and Students Publications

MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of 57 affected individuals from 30 unrelated families with biallelic MED27 variants. Using exome sequencing and extensive international genetic data sharing, 39 unpublished affected individuals from 18 independent families with biallelic missense variants in MED27 have been identified (29 females, mean age at last follow-up 17 ± …


Birth Defects In Offspring Of Adolescent And Young Adults With A History Of Cancer: A Population-Based Study Of 27,000 Women, Caitlin C Murphy, Andrea C Betts, Sandi L Pruitt, Barbara A Cohn, L Aubree Shay, Marlyn A Allicock, Jennifer S Wang, Philip J Lupo Dec 2023

Birth Defects In Offspring Of Adolescent And Young Adults With A History Of Cancer: A Population-Based Study Of 27,000 Women, Caitlin C Murphy, Andrea C Betts, Sandi L Pruitt, Barbara A Cohn, L Aubree Shay, Marlyn A Allicock, Jennifer S Wang, Philip J Lupo

Faculty, Staff and Students Publications

BACKGROUND: We examined birth defects in offspring of adolescent and young adult (AYA) women with a history of cancer (age 15-39 years at diagnosis).

METHODS: We identified AYA women diagnosed with cancer between January 1, 1999, and December 31, 2015 using population-based data from the Texas Cancer Registry; data were linked with live birth and fetal death certificates through December 31, 2016 to identify singleton births to AYA women after diagnosis. Birth defects in offspring through age 12 months were ascertained from the Texas Birth Defects Registry. We estimated risk of birth defects in offspring of AYA women and women …


Serum Biomarkers Of Nociceptive And Neuropathic Pain In Chronic Pancreatitis, Jami L Saloman, Yan Li, Kimberly Stello, Wenhao Li, Shuang Li, Anna Evans Phillips, Kristen Hall, Evan L Fogel, Santhi Swaroop Vege, Liang Li, Dana K Andersen, William E Fisher, Christopher E Forsmark, Phil A Hart, Stephen J Pandol, Walter G Park, Mark D Topazian, Stephen K Van Den Eeden, Jose Serrano, Darwin L Conwell, Dhiraj Yadav, Consortium For The Study Of Chronic Pancreatitis, Diabetes, And Pancreatic Cancer (Cpdpc) Dec 2023

Serum Biomarkers Of Nociceptive And Neuropathic Pain In Chronic Pancreatitis, Jami L Saloman, Yan Li, Kimberly Stello, Wenhao Li, Shuang Li, Anna Evans Phillips, Kristen Hall, Evan L Fogel, Santhi Swaroop Vege, Liang Li, Dana K Andersen, William E Fisher, Christopher E Forsmark, Phil A Hart, Stephen J Pandol, Walter G Park, Mark D Topazian, Stephen K Van Den Eeden, Jose Serrano, Darwin L Conwell, Dhiraj Yadav, Consortium For The Study Of Chronic Pancreatitis, Diabetes, And Pancreatic Cancer (Cpdpc)

Faculty, Staff and Students Publications

Debilitating abdominal pain is a common symptom affecting most patients with chronic pancreatitis (CP). There are multiple underlying mechanisms that contribute to CP-related pain, which makes successful treatment difficult. The identification of biomarkers for subtypes of pain could provide viable targets for nonopioid interventions and the development of mechanistic approaches to pain management in CP. Nineteen inflammation- and nociception-associated proteins were measured in serum collected from 358 subjects with definite CP enrolled in PROspective Evaluation of Chronic Pancreatitis for EpidEmiologic and Translational StuDies, a prospective observational study of pancreatitis in US adult subjects. First, serum levels of putative biomarkers were …


Critical Care Delivery Across Health Care Systems In Low-Income And Low-Middle-Income Country Settings: A Systematic Review, Emily S Bartlett, Andrew Lim, Sean Kivlehan, Lia I Losonczy, Srinivas Murthy, Richard Lowsby, Alfred Papali, Madiha Raees, Bhavna Seth, Natalie Cobb, Jason Brotherton, Enrico Dippenaar, Gaurav Nepal, Gentle S Shrestha, Shih-Chiang E Kuo, J Ryan Skrabal, Margaret Davis, Cappi Lay, Sojung Yi, Michael Jaung, Brandon Chaffay, Nana Sefa, Marc Lc Yang, P Andrew Stephens, Amir Rashed, Nicole Benzoni, Bernadett Velasco, Neill Kj Adhikari, Teri Reynolds Dec 2023

Critical Care Delivery Across Health Care Systems In Low-Income And Low-Middle-Income Country Settings: A Systematic Review, Emily S Bartlett, Andrew Lim, Sean Kivlehan, Lia I Losonczy, Srinivas Murthy, Richard Lowsby, Alfred Papali, Madiha Raees, Bhavna Seth, Natalie Cobb, Jason Brotherton, Enrico Dippenaar, Gaurav Nepal, Gentle S Shrestha, Shih-Chiang E Kuo, J Ryan Skrabal, Margaret Davis, Cappi Lay, Sojung Yi, Michael Jaung, Brandon Chaffay, Nana Sefa, Marc Lc Yang, P Andrew Stephens, Amir Rashed, Nicole Benzoni, Bernadett Velasco, Neill Kj Adhikari, Teri Reynolds

Faculty, Staff and Students Publications

BACKGROUND: Prior research has demonstrated that low- and low-middle-income countries (LLMICs) bear a higher burden of critical illness and have a higher rate of mortality from critical illness than high-income countries (HICs). There is a pressing need for improved critical care delivery in LLMICs to reduce this inequity. This systematic review aimed to characterise the range of critical care interventions and services delivered within LLMIC health care systems as reported in the literature.

METHODS: A search strategy using terms related to critical care in LLMICs was implemented in multiple databases. We included English language articles with human subjects describing at …