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Full-Text Articles in Medicine and Health Sciences

Optimizing Long-Term Outcomes In Cystinosis With Comprehensive Patient-Centered Care, Ewa Elenberg Mar 2025

Optimizing Long-Term Outcomes In Cystinosis With Comprehensive Patient-Centered Care, Ewa Elenberg

Faculty, Staff and Students Publications

No abstract provided.


Evaluation Of Enzyme Activity Predictions For Variants Of Unknown Significance In Arylsulfatase A, Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto, Fang Ge, Ailin Glagovsky, Cameron Jones, Giankaleb Moran, Boqi Wang, Kobra Rahimi, Sümeyra Zeynep Çalıcı, Luis R Cedillo, Silvia Berardelli, Buse Özden, Ken Chen, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Sadhna Rana, Swatantra Pradhan, Rajgopal Srinivasan, Rakshanda Sajeed, Dinesh Joshi, Eshel Faraggi, Robert Jernigan, Andrzej Kloczkowski, Jierui Xu, Zigang Song, Selen Özkan, Natàlia Padilla, Xavier De La Cruz, Rocio Acuna-Hidalgo, Andrea Grafmüller, Laura T Jiménez Barrón, Matteo Manfredi, Castrense Savojardo, Giulia Babbi, Pier Luigi Martelli, Rita Casadio, Yuanfei Sun, Shaowen Zhu, Yang Shen, Fabrizio Pucci, Marianne Rooman, Gabriel Cia, Daniele Raimondi, Pauline Hermans, Sofia Kwee, Ella Chen, Courtney Astore, Akash Kamandula, Vikas Pejaver, Rashika Ramola, Michelle Velyunskiy, Daniel Zeiberg, Reet Mishra, Teague Sterling, Jennifer L Goldstein, Jose Lugo-Martinez, Sufyan Kazi, Sindy Li, Kinsey Long, Steven E Brenner, Constantina Bakolitsa, Predrag Radivojac, Dean Suhr, Teryn Suhr, Wyatt T Clark Mar 2025

Evaluation Of Enzyme Activity Predictions For Variants Of Unknown Significance In Arylsulfatase A, Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto, Fang Ge, Ailin Glagovsky, Cameron Jones, Giankaleb Moran, Boqi Wang, Kobra Rahimi, Sümeyra Zeynep Çalıcı, Luis R Cedillo, Silvia Berardelli, Buse Özden, Ken Chen, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Sadhna Rana, Swatantra Pradhan, Rajgopal Srinivasan, Rakshanda Sajeed, Dinesh Joshi, Eshel Faraggi, Robert Jernigan, Andrzej Kloczkowski, Jierui Xu, Zigang Song, Selen Özkan, Natàlia Padilla, Xavier De La Cruz, Rocio Acuna-Hidalgo, Andrea Grafmüller, Laura T Jiménez Barrón, Matteo Manfredi, Castrense Savojardo, Giulia Babbi, Pier Luigi Martelli, Rita Casadio, Yuanfei Sun, Shaowen Zhu, Yang Shen, Fabrizio Pucci, Marianne Rooman, Gabriel Cia, Daniele Raimondi, Pauline Hermans, Sofia Kwee, Ella Chen, Courtney Astore, Akash Kamandula, Vikas Pejaver, Rashika Ramola, Michelle Velyunskiy, Daniel Zeiberg, Reet Mishra, Teague Sterling, Jennifer L Goldstein, Jose Lugo-Martinez, Sufyan Kazi, Sindy Li, Kinsey Long, Steven E Brenner, Constantina Bakolitsa, Predrag Radivojac, Dean Suhr, Teryn Suhr, Wyatt T Clark

Faculty, Staff and Students Publications

Continued advances in variant effect prediction are necessary to demonstrate the ability of machine learning methods to accurately determine the clinical impact of variants of unknown significance (VUS). Towards this goal, the ARSA Critical Assessment of Genome Interpretation (CAGI) challenge was designed to characterize progress by utilizing 219 experimentally assayed missense VUS in the Arylsulfatase A (ARSA) gene to assess the performance of community-submitted predictions of variant functional effects. The challenge involved 15 teams, and evaluated additional predictions from established and recently released models. Notably, a model developed by participants of a genetics and coding bootcamp, trained with standard machine-learning …


Quantitative Profiling Ph Heterogeneity Of Acidic Endolysosomal Compartments Using Fluorescence Lifetime Imaging Microscopy, Dinghuan Deng, Youchen Guan, Ayse Sena Mutlu, Baiping Wang, Shihong Max Gao, Hui Zheng, Meng C Wang Mar 2025

Quantitative Profiling Ph Heterogeneity Of Acidic Endolysosomal Compartments Using Fluorescence Lifetime Imaging Microscopy, Dinghuan Deng, Youchen Guan, Ayse Sena Mutlu, Baiping Wang, Shihong Max Gao, Hui Zheng, Meng C Wang

Center on Aging Staff Publications

The endolysosomal system plays a crucial role in maintaining cellular homeostasis and promoting organism fitness. The pH of its acidic compartments is a crucial parameter for proper function, and it is dynamically influenced by both intracellular and environmental factors. Here, we present a method based on fluorescence lifetime imaging microscopy (FLIM) for quantitatively analyzing the pH profiles of acidic endolysosomal compartments in diverse types of primary mammalian cells and in live organism Caenorhabditis elegans. This FLIM-based method exhibits high sensitivity in resolving subtle pH differences, thereby revealing heterogeneity within a cell and across cell types. This method enables rapid …


Robotic First Rib Resection With Adjuvant Endovascular Therapy For Chronic Paget-Schroetter Syndrome, Alejandro Zulbaran-Rojas, Miguel Montero-Baker, Nihanth Palivela, Catherine Park, Bijan Najafi, Jayer Chung, Joseph L Mills, Bryan M Burt Mar 2025

Robotic First Rib Resection With Adjuvant Endovascular Therapy For Chronic Paget-Schroetter Syndrome, Alejandro Zulbaran-Rojas, Miguel Montero-Baker, Nihanth Palivela, Catherine Park, Bijan Najafi, Jayer Chung, Joseph L Mills, Bryan M Burt

Center on Aging Staff Publications

Background: Patients with acute Paget-Schroetter syndrome (PSS) are treated with endovascular therapy and first rib resection (FRR); however the care of patients with chronic PSS is less well understood. This report describes an emerging approach of robotic-FRR, with adjuvant endovascular therapy, for chronic PSS.

Methods: A single-center, retrospective analysis was conducted of patients undergoing robotic-FRR for chronic PSS between 2017 and 2020. Chronic PSS was defined by subclavian vein (SCV) fibrosis identified on duplex ultrasound examination. Patency and clinical outcomes were compared before and after robotic-FRR.

Results: Fifteen robotic-FRRs in 14 patients with chronic PSS were analyzed. Median time between …


Insulin Clearance At Randomisation And In Response To Treatment In Youth With Type 2 Diabetes: A Secondary Analysis Of The Today Randomised Clinical Trial, Kristen J Nadeau, Silva A Arslanian, Fida Bacha, Sonia Caprio, Lily C Chao, Ryan Farrell, Kara S Hughan, Maria Rayas, Melinda Tung, Kaitlyn Cross, Laure El Ghormli Mar 2025

Insulin Clearance At Randomisation And In Response To Treatment In Youth With Type 2 Diabetes: A Secondary Analysis Of The Today Randomised Clinical Trial, Kristen J Nadeau, Silva A Arslanian, Fida Bacha, Sonia Caprio, Lily C Chao, Ryan Farrell, Kara S Hughan, Maria Rayas, Melinda Tung, Kaitlyn Cross, Laure El Ghormli

Children’s Nutrition Research Center Staff Publications

Aims/hypothesis: Insulin resistance and compensatory hyperinsulinaemia are core features leading to beta cell failure in youth-onset type 2 diabetes. Insulin clearance (IC) is also a key regulator of insulin concentrations, but few data exist on IC in youth-onset type 2 diabetes. In a secondary analysis of our Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) randomised clinical trial, we investigated potential sex-, race-, ethnicity- and treatment-related differences in IC in youth-onset type 2 diabetes and aimed to identify metabolic phenotypes associated with IC at baseline and in response to metformin, metformin plus a lifestyle intervention, and metformin …


The Relationship Between Individualised Speed Thresholds And Changes In Aerobic Fitness In Elite Professional Youth Soccer Players. A Case Study, Ronan Kavanagh, Kevin Mcdaid, David Rhodes, Jill Alexander, Damian Harper, Rafael Oliveira, Kieran Berry, Mark Connor, Piotr Zmijewski, Ryland Morgans Feb 2025

The Relationship Between Individualised Speed Thresholds And Changes In Aerobic Fitness In Elite Professional Youth Soccer Players. A Case Study, Ronan Kavanagh, Kevin Mcdaid, David Rhodes, Jill Alexander, Damian Harper, Rafael Oliveira, Kieran Berry, Mark Connor, Piotr Zmijewski, Ryland Morgans

Baltic Journal of Health and Physical Activity

Background: This study aimed to examine the dose-response relationship between training load and aspects of physical fitness in English Premier League (EPL) U23 soccer players. Materials and Methods: Seven male EPL U23 outfield soccer players (age 20.1±1.1 years) participated in this study and performed the Bronco test on five occasions within one season. Individualised running thresholds were employed using maximal aerobic speed (MAS), anaerobic speed reserve (ASR) and maximal sprint speed (MSS) values utilising a GPS system. Results: No significant differences in the Bronco performance between the tests (p > 0.05, ES = 0.101) were observed. Distance covered above 30% …


Ethical Considerations Of Percutaneous Endoscopic Gastrostomy Tube Placement In A Patient With Creutzfeldt-Jakob Disease And Advanced Dementia, Toni Habib, Niamh Siobhán Mulrooney, Yisroel Grabie, Mohammad Maruf, Sophia Kasapira Feb 2025

Ethical Considerations Of Percutaneous Endoscopic Gastrostomy Tube Placement In A Patient With Creutzfeldt-Jakob Disease And Advanced Dementia, Toni Habib, Niamh Siobhán Mulrooney, Yisroel Grabie, Mohammad Maruf, Sophia Kasapira

HCA Healthcare Journal of Medicine

Background

Creutzfeldt-Jakob disease (CJD) is a rapidly progressive neurodegenerative condition that is not easily diagnosed and has no curative treatments available, essentially requiring palliative measures, including tube feeding. Nonetheless, data shows that the endoscope used for percutaneous endoscopic gastrostomy (PEG) tube insertion can be a vector for CJD transmission.

Case Presentation

We discuss the case of an elderly patient diagnosed with CJD, requiring tube feeding. Multiple specialists were consulted, and they were unable to reach an agreement on the best approach. Eventually, the hospital ethics committee intervened, and the family agreed to comfort measures only. This case report sheds light …


The Black Fungus: A Rare Case Of Pulmonary Mucormycosis, Stephanie Wong, Elsa Lesley Tchouambou Pougoue, Joanna Polanco, Betty Kirimi, Choudhry Poonam Feb 2025

The Black Fungus: A Rare Case Of Pulmonary Mucormycosis, Stephanie Wong, Elsa Lesley Tchouambou Pougoue, Joanna Polanco, Betty Kirimi, Choudhry Poonam

HCA Healthcare Journal of Medicine

Background

Mucormycosis, commonly known as the "black fungus," is a severe infection affecting multiple organ systems, including the skin, brain, lungs, and gastrointestinal tract. This case report is focused on pulmonary mucormycosis, which is frequently observed in organ transplant recipients. Diagnostic challenges arise from nonspecific symptoms.

Case Presentation

Our case involved a 61-year-old male with a history of renal transplantation. The patient initially presented with a persistent cough and bloody sputum and was treated unsuccessfully for a presumed fungal infection. A lung biopsy confirmed pulmonary mucormycosis, emphasizing the heightened vulnerability of immunocompromised individuals.

Conclusion

This case highlights the intricate nature …


Blind Nasal Intubation As A Rescue Strategy In Difficult Airway Management, Riaz Chowdhury, Ashalatha K. Nair, Dheeraj Kamalam, Rohit Jaishankar Feb 2025

Blind Nasal Intubation As A Rescue Strategy In Difficult Airway Management, Riaz Chowdhury, Ashalatha K. Nair, Dheeraj Kamalam, Rohit Jaishankar

HCA Healthcare Journal of Medicine

Background

Airway management in emergency situations poses significant challenges, particularly in patients with difficult airway anatomy or comorbid conditions. Blind nasal intubation has been explored as a rescue technique when conventional methods fail. Masseter muscle rigidity (MMR), characterized by significant jaw muscle stiffness, is a recognized complication following succinylcholine administration that can complicate traditional approaches to securing an airway.

Case Presentation

A 75-year-old man with multiple comorbidities, including hypertension, prior stroke with paralysis, dementia, and a seizure disorder, presented with acute hypercapnic hypoxemic respiratory failure requiring emergent intubation. Orotracheal intubation failed due to trismus despite etomidate, succinylcholine, and rocuronium. Nasal …


Sustained Supraventricular Tachycardia While In Active Phase Labor, Austin Gold, Mona Sadek Feb 2025

Sustained Supraventricular Tachycardia While In Active Phase Labor, Austin Gold, Mona Sadek

HCA Healthcare Journal of Medicine

Background

Supraventricular tachycardia (SVT) is one of the most common tachyarrhythmias found in young women, and SVT can be exacerbated by pregnancy. The symptoms associated with SVT frequently overlap with physiologic changes and symptoms of pregnancy which can lead to delayed or missed diagnosis.

Case Presentation

We describe the presentation and the acute management of a patient who had sustained SVT that developed during the active phase of labor. We then detail the varying management approaches of SVT in pregnancy and labor as well as refractory management options. Maternal monitoring will also be discussed as this case shows how an …


The “Wearing Off” Phenomenon For Rasagiline, Entacapone, Carbidopa, And Levodopa In The Setting Of Parkinson’S Disease, Ryan Cromwell, Tevin Um Feb 2025

The “Wearing Off” Phenomenon For Rasagiline, Entacapone, Carbidopa, And Levodopa In The Setting Of Parkinson’S Disease, Ryan Cromwell, Tevin Um

HCA Healthcare Journal of Medicine

Background

Parkinson’s disease is a primary neurological dysfunction syndrome in which the body’s natural production of dopamine is reduced. Therapeutic intervention for this disease primarily includes medications that increase the body’s natural production of dopamine. These medications can have side effects, requiring constant titration based on the patient’s symptoms.

Case Presentation

We report a case study of a 75-year-old man diagnosed with Parkinson’s disease who had a profound acute exacerbation of psychological symptoms following modifications to his dopaminergic treatment regimen. Initially, the patient was prescribed carbidopa/levodopa, rasagiline, and carbidopa/levodopa/entacapone. However, the treatment plan was adjusted due to the worsening of …


An Unusual Presentation Of Subcutaneous Inguinal Hematoma Mimicking Ovarian Torsion: A Case Report, Chrystal Stallworth, Timothy Kremer, Victoria Panzanaro Feb 2025

An Unusual Presentation Of Subcutaneous Inguinal Hematoma Mimicking Ovarian Torsion: A Case Report, Chrystal Stallworth, Timothy Kremer, Victoria Panzanaro

HCA Healthcare Journal of Medicine

Background

Ovarian or adnexal torsions occur when an ovary rotates around one of the supporting ligaments, often the infundibulopelvic (IP) ligament. This rotation can cause the blood flow to the ovary to be hindered, and this decrease in perfusion can often present as adnexal pain, nausea, and vomiting. A significant risk factor for developing an ovarian torsion is the presence of an ovarian mass, such as a cyst. The diagnosis of ovarian torsion is a medical emergency, but symptoms typically resolve with prompt surgical intervention. Hematomas occurring within or around the inguinal region have been reported to occur primarily after …


Risk Factors Associated With Worse Outcomes In Trauma Patients Aged 55 And Older, Hector Mendez, Ilko Luque, Nicole Yordán López, Carlos Parra, Kelvin Chan, Mariel A. Javier, Marcela Ramirez, Orlando Morejón Feb 2025

Risk Factors Associated With Worse Outcomes In Trauma Patients Aged 55 And Older, Hector Mendez, Ilko Luque, Nicole Yordán López, Carlos Parra, Kelvin Chan, Mariel A. Javier, Marcela Ramirez, Orlando Morejón

HCA Healthcare Journal of Medicine

Background

Prior studies have shown an increase in mortality in trauma patients after 55 years of age. However, it is less certain which pre-existing comorbidities (PECs) are associated with poorer outcomes. The purpose of this study was to identify the risk factors associated with poor outcomes and death in patients 55 years old and older admitted for trauma.

Methods

Trauma patients (age ≥ 55) were studied retrospectively from the local trauma registry at HCA Florida Kendall Hospital, a level 1 trauma center (2020–22). We collected the subject’s age, gender, PECs, and outcome data. Then we performed multiple logistic regression to …


Updating A Rural Clinic In Tiburón, Haiti, Akankcha Alok, Mohamed Bakhit, Djenie Helne, Philipe Milord, Marcellas Socrate, Camil Clermont, Marie A. Kima Feb 2025

Updating A Rural Clinic In Tiburón, Haiti, Akankcha Alok, Mohamed Bakhit, Djenie Helne, Philipe Milord, Marcellas Socrate, Camil Clermont, Marie A. Kima

HCA Healthcare Journal of Medicine

Background

Tiburón is a small fishing village in Haiti with a clinic overseen by the Oblate missionaries and the Ministry of Public Health and Population (MSPP). This village was hugely impacted by Hurricane Matthew in 2016, leading to increased health care demands. The clinic was inaccessible from the furthest parts of the village and lacked basic medication supplies and adequate manpower. We aimed to reinforce the infrastructure and update the clinic using a multifaceted approach.

Methods

We developed a quality improvement project to strengthen the clinic's infrastructure and modernize its facilities with a comprehensive approach focused on enhancing health care …


Synthetic Versus Biologic Mesh For Complex Open Ventral Hernia Repair: Three-Year Follow-Up Of A Pilot Randomized Controlled Trial, Nalia H. Dhanani, Nicole B. Lyons, Kyung Hyun Lee, Oscar A. Olavaarria, Aris R. Arakelians, Julie L. Holihan, Lillian S. Kao, Ali Siddiqui, Connor Hogan, Tunmi Anwoju, Zuhair Ali, Mike K. Liang Feb 2025

Synthetic Versus Biologic Mesh For Complex Open Ventral Hernia Repair: Three-Year Follow-Up Of A Pilot Randomized Controlled Trial, Nalia H. Dhanani, Nicole B. Lyons, Kyung Hyun Lee, Oscar A. Olavaarria, Aris R. Arakelians, Julie L. Holihan, Lillian S. Kao, Ali Siddiqui, Connor Hogan, Tunmi Anwoju, Zuhair Ali, Mike K. Liang

HCA Healthcare Journal of Medicine

Background

Biologic mesh is often used in complex hernia repair, but there has been limited clinical evidence to date to support this practice. The aim of this study was to compare clinical and patient-reported outcomes of biologic versus synthetic mesh for complex open ventral hernia repair (OVHR) at 3 years.

Methods

Patients from a single center, randomized, controlled, pilot trial comparing biologic versus synthetic mesh in complex OVHR were followed for 3 years. The primary outcome focused on major complications, namely mesh infections, hernia recurrences, reoperations, and deaths. Secondary outcomes included surgical site infections, surgical site occurrences, and patient-reported outcomes. …


Impact Of A Comprehensive Palliative Quality Improvement Initiative (Icu-Pal) In A Medical-Surgical Intensive Care Unit, Aunie M. Danyalian, Michele M. Iguina, Manjot Malhi, Umair Shaikh, Sanaz B. Kashan, Dionne Morgan, Daniel Heller, Mauricio Danckers Feb 2025

Impact Of A Comprehensive Palliative Quality Improvement Initiative (Icu-Pal) In A Medical-Surgical Intensive Care Unit, Aunie M. Danyalian, Michele M. Iguina, Manjot Malhi, Umair Shaikh, Sanaz B. Kashan, Dionne Morgan, Daniel Heller, Mauricio Danckers

HCA Healthcare Journal of Medicine

Background

Early palliative care practice implementation in the intensive care unit (ICU) improves advance care planning, promotes patient and family satisfaction, and decreases health care costs. The consensus for protocolized palliative care delivery is unknown. We assessed the impact of a qualitive improvement educational intervention that promotes the identification of critically ill patients who will benefit from early expert palliative care interventions.

Methods

In this observational study, we examined the impact of an educational intervention that promoted (1) early detection of palliative care triggers (PCT) during ICU multidisciplinary rounds (MDRs), (2) admission and 48-hour pain assessment, and (3) family meetings …


Acute Exacerbation Of Idiopathic Pulmonary Fibrosis In The Setting Of Acute Eosinophilic Pneumonia, Duncan A. Mckinney, Noah R. Kosnik, Shahzeib Syed, Gretchen Junko Feb 2025

Acute Exacerbation Of Idiopathic Pulmonary Fibrosis In The Setting Of Acute Eosinophilic Pneumonia, Duncan A. Mckinney, Noah R. Kosnik, Shahzeib Syed, Gretchen Junko

HCA Healthcare Journal of Medicine

Idiopathic pulmonary fibrosis (IPF) is a progressive disease characterized by gradual destruction and replacement of pulmonary parenchyma with fibrous tissue, which occurs in conjunction with chronic inflammation. It is often considered a prototypical interstitial lung disease and is both the most prevalent and perhaps the most dangerous in that family. Although the disease is uncommon in the general population, its prevalence increases with age and is typically diagnosed around the age of 65. This does not preclude the development of IPF in younger individuals, and the mean survival is 2 to 5 years post-diagnosis regardless of age. Contemporary studies have …


Fluorescence Lifetime Imaging Ophthalmoscopy (Flio): A Novel Retinal Metabolic Biomarker For Multiple Sclerosis, Daniel Markowitz, Kylee Shivok, Elizabeth Affel, Ms, Jose S. Pulido, Md, Ms, Mba, Mph, Thomas P. Leist, Md, Phd, Gyorgy Hajnoczky, Md, Phd, Mahdi Alizadeh, Phd, Robert Sergott, Md Feb 2025

Fluorescence Lifetime Imaging Ophthalmoscopy (Flio): A Novel Retinal Metabolic Biomarker For Multiple Sclerosis, Daniel Markowitz, Kylee Shivok, Elizabeth Affel, Ms, Jose S. Pulido, Md, Ms, Mba, Mph, Thomas P. Leist, Md, Phd, Gyorgy Hajnoczky, Md, Phd, Mahdi Alizadeh, Phd, Robert Sergott, Md

Farber Institute for Neuroscience Staff Papers and Presentations

Introduction

- Fluorescence lifetime imaging ophthalmoscopy (FLIO, Heidelberg Engineering, Figures 1 and 2), a novel in vivo retinal imaging biomarker, generates fluorescence decay lifetimes in 2 spectral channels corresponding to the following metabolic processes:

- Short Spectral Channel (SSC): 498 – 560 nm

  • Corresponds to macular pigment, flavin adenine dinucleotide (FAD) and oxidative phosphorylation.

- Long Spectral Channel (LSC): 560 – 720nm

  • Corresponds to predominantly lipofuscin and lysosomal function

- Based upon animal experimental models and clinical data, mitochondrial dysfunction has a role in the pathophysiology of both inflammatory and degenerative components of Multiple Sclerosis


Spetzler-Martin Grade I And Ii Cerebral Arteriovenous Malformations: A Propensity-Score Matched Analysis Of Resection And Stereotactic Radiosurgery In Adult Patients, Salem Tos, Mahmoud Osama, Georgios Mantziaris, Bardia Hajikarimloo, Nimer Adeeb, Sandeep Kandregula, Adam Dmytriw, Hamza Adel Salim, Basel Musmar, Kareem El Naamani, Christopher Ogilvy, Douglas Kondziolka, Ahmed Abdelsalam, Deepak Kumbhare, Sanjeev Gummadi, Cagdas Ataoglu, Ufuk Erginoglu, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Howard Riina, Arwin Rezai, Johannes Pöppe, Rajeev Sen, Omar Alwakaa, Christoph Griessenauer, Pascal Jabbour, Stavropoula Tjoumakaris, Jan-Karl Burkhardt, Robert Starke, Mustafa Baskaya, Laligam Sekhar, Michael Levitt, David Altschul, Neil Haranhalli, Malia Mcavoy, Assala Aslan, Abdallah Abushehab, Christian Swaid, Adib Abla, Christopher Stapleton, Matthew Koch, Visish M Srinivasan, Peng Chen, Spiros Blackburn, Mark Dannenbaum, Omar Choudhri, Bryan Pukenas, Darren Orbach, Edward Smith, Markus Möhlenbruch, Ali Alaraj, Ali Aziz-Sultan, Aman Patel, Hugo Cuellar, Michael Lawton, Jacques Morcos, Bharat Guthikonda, Jason Sheehan Feb 2025

Spetzler-Martin Grade I And Ii Cerebral Arteriovenous Malformations: A Propensity-Score Matched Analysis Of Resection And Stereotactic Radiosurgery In Adult Patients, Salem Tos, Mahmoud Osama, Georgios Mantziaris, Bardia Hajikarimloo, Nimer Adeeb, Sandeep Kandregula, Adam Dmytriw, Hamza Adel Salim, Basel Musmar, Kareem El Naamani, Christopher Ogilvy, Douglas Kondziolka, Ahmed Abdelsalam, Deepak Kumbhare, Sanjeev Gummadi, Cagdas Ataoglu, Ufuk Erginoglu, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Howard Riina, Arwin Rezai, Johannes Pöppe, Rajeev Sen, Omar Alwakaa, Christoph Griessenauer, Pascal Jabbour, Stavropoula Tjoumakaris, Jan-Karl Burkhardt, Robert Starke, Mustafa Baskaya, Laligam Sekhar, Michael Levitt, David Altschul, Neil Haranhalli, Malia Mcavoy, Assala Aslan, Abdallah Abushehab, Christian Swaid, Adib Abla, Christopher Stapleton, Matthew Koch, Visish M Srinivasan, Peng Chen, Spiros Blackburn, Mark Dannenbaum, Omar Choudhri, Bryan Pukenas, Darren Orbach, Edward Smith, Markus Möhlenbruch, Ali Alaraj, Ali Aziz-Sultan, Aman Patel, Hugo Cuellar, Michael Lawton, Jacques Morcos, Bharat Guthikonda, Jason Sheehan

Department of Neurosurgery Faculty Papers

Cerebral arteriovenous malformations (AVMs) are congenital vascular anomalies that can lead to severe complications, including hemorrhage and neurological deficits. This study compares the outcomes of microsurgical resection and stereotactic radiosurgery (SRS) for SM grade I and II AVMs. Out of a large multicenter registry, we identified 180 matched patients with SM grade I and II AVMs treated with either microsurgical resection or SRS between 2010 and 2023. The primary outcomes were AVM obliteration rates and complications; secondary outcomes included neurological status and functional outcomes measured by the modified Rankin Scale (mRS). Propensity score matching (PSM) was utilized to ensure comparability …


Biosocial Determinants Of Health Among Patients With Chronic Liver Disease And Liver Cancer, Tagari Samanta, Jun Hyoung Park, Benny Abraham Kaipparettu Feb 2025

Biosocial Determinants Of Health Among Patients With Chronic Liver Disease And Liver Cancer, Tagari Samanta, Jun Hyoung Park, Benny Abraham Kaipparettu

Faculty, Staff and Students Publications

Background: Metabolic disorders and chronic liver disease (CLD) play crucial roles in the development and progression of liver cancer (LC). Since the ethnic minority population increasingly suffers from CLD and LC, it is vital to understand the biosocial factors contributing to CLD and LC. The 'All of Us' database, with significant participation from minority populations, provides a valuable tool for studies in different racial/ethnic groups. Using different databases, including the 'All of Us' and 'The Cancer Genome Atlas', this study aimed to understand the biosocial factors contributing to CLD and LC.

Methods: Using 'All of Us' data, confounding factors like …


Invasive Haemophilus Influenzae Disease At A Us Children's Hospital In The Sars-Cov-2 Era, J Chase Mcneil, David R Mcdonald, James J Dunn, Sheldon L Kaplan, Kristina G Hulten, Jesus G Vallejo Feb 2025

Invasive Haemophilus Influenzae Disease At A Us Children's Hospital In The Sars-Cov-2 Era, J Chase Mcneil, David R Mcdonald, James J Dunn, Sheldon L Kaplan, Kristina G Hulten, Jesus G Vallejo

Faculty, Staff and Students Publications

Background: National data previously demonstrated an increase in invasive disease due to non-type b Haemophilus influenzae from the 2000s to the 2010s. Significant shifts in the epidemiology of respiratory pathogens in children have occurred in the post-SARS-CoV-2 era. We examined pediatric invasive H. influenzae disease in the pre- and post-SARS-CoV-2 years.

Methods: Invasive H. influenzae infections were identified from culture records of the Texas Children's Hospital microbiology laboratory from January 2011 to December 2023. Invasive cases were considered those with isolation of H. influenzae from a sterile site. The annual number of cases/1000 admissions was used as a surrogate for …


Androgen Receptor Ubiquitination Links Kctd13 To Genitourinary Tract Defects, Ahmed Chahdi, Carolina Jorgez, Jill A Rosenfeld, Neetu Neetu, Abhishek Seth Feb 2025

Androgen Receptor Ubiquitination Links Kctd13 To Genitourinary Tract Defects, Ahmed Chahdi, Carolina Jorgez, Jill A Rosenfeld, Neetu Neetu, Abhishek Seth

Faculty, Staff and Students Publications

The potassium channel tetramerization domain containing 13 (KCTD13) protein is a substrate-specific adapter for cullin3-based E3 ubiquitin ligase. Patients with copy number variants at this locus exhibit genitourinary tract anomalies. In this study, we show that decreased androgen receptor (AR) protein level correlated with increased AR ubiquitination in the testis of Kctd13-deficient mice, suggesting that KCTD13 inhibits AR ubiquitination. KCTD13 increased CUL3-dependent AR ubiquitination but had no effect on CUL3 binding to AR, confirming the role of KCTD13 as an adaptor of CUL3 ligase. Recombinant KCTD13 directly binds to recombinant AR, and the BTB domain of KCTD13 is critical for …


Spetzler-Martin Grade I And Ii Cerebral Arteriovenous Malformations: A Propensity-Score Matched Analysis Of Resection And Stereotactic Radiosurgery In Adult Patients, Salem M Tos, Mahmoud Osama, Georgios Mantziaris, Bardia Hajikarimloo, Nimer Adeeb, Sandeep Kandregula, Adam A Dmytriw, Hamza Adel Salim, Basel Musmar, Kareem El Naamani, Christopher Ogilvy, Douglas Kondziolka, Ahmed Abdelsalam, Deepak Kumbhare, Sanjeev Gummadi, Cagdas Ataoglu, Ufuk Erginoglu, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Howard Riina, Arwin Rezai, Johannes Pöppe, Rajeev D Sen, Omar Alwakaa, Christoph J Griessenauer, Pascal Jabbour, Stavropoula I Tjoumakaris, Jan-Karl Burkhardt, Robert M Starke, Mustafa Baskaya, Laligam N Sekhar, Michael R Levitt, David J Altschul, Neil Haranhalli, Malia Mcavoy, Assala Aslan, Abdallah Abushehab, Christian Swaid, Adib Abla, Christopher Stapleton, Matthew Koch, Visish M Srinivasan, Peng R Chen, Spiros Blackburn, Mark J Dannenbaum, Omar Choudhri, Bryan Pukenas, Darren Orbach, Edward Smith, Markus Möhlenbruch, Ali Alaraj, Ali Aziz-Sultan, Aman B Patel, Hugo H Cuellar, Michael Lawton, Jacques Morcos, Bharat Guthikonda, Jason Sheehan Feb 2025

Spetzler-Martin Grade I And Ii Cerebral Arteriovenous Malformations: A Propensity-Score Matched Analysis Of Resection And Stereotactic Radiosurgery In Adult Patients, Salem M Tos, Mahmoud Osama, Georgios Mantziaris, Bardia Hajikarimloo, Nimer Adeeb, Sandeep Kandregula, Adam A Dmytriw, Hamza Adel Salim, Basel Musmar, Kareem El Naamani, Christopher Ogilvy, Douglas Kondziolka, Ahmed Abdelsalam, Deepak Kumbhare, Sanjeev Gummadi, Cagdas Ataoglu, Ufuk Erginoglu, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Howard Riina, Arwin Rezai, Johannes Pöppe, Rajeev D Sen, Omar Alwakaa, Christoph J Griessenauer, Pascal Jabbour, Stavropoula I Tjoumakaris, Jan-Karl Burkhardt, Robert M Starke, Mustafa Baskaya, Laligam N Sekhar, Michael R Levitt, David J Altschul, Neil Haranhalli, Malia Mcavoy, Assala Aslan, Abdallah Abushehab, Christian Swaid, Adib Abla, Christopher Stapleton, Matthew Koch, Visish M Srinivasan, Peng R Chen, Spiros Blackburn, Mark J Dannenbaum, Omar Choudhri, Bryan Pukenas, Darren Orbach, Edward Smith, Markus Möhlenbruch, Ali Alaraj, Ali Aziz-Sultan, Aman B Patel, Hugo H Cuellar, Michael Lawton, Jacques Morcos, Bharat Guthikonda, Jason Sheehan

Faculty, Staff and Student Publications

Cerebral arteriovenous malformations (AVMs) are congenital vascular anomalies that can lead to severe complications, including hemorrhage and neurological deficits. This study compares the outcomes of microsurgical resection and stereotactic radiosurgery (SRS) for SM grade I and II AVMs. Out of a large multicenter registry, we identified 180 matched patients with SM grade I and II AVMs treated with either microsurgical resection or SRS between 2010 and 2023. The primary outcomes were AVM obliteration rates and complications; secondary outcomes included neurological status and functional outcomes measured by the modified Rankin Scale (mRS). Propensity score matching (PSM) was utilized to ensure comparability …


New Onset Diabetes Predicts Clinical Outcomes In Patients With Pancreatic Adenocarcinoma, Chirayu Mohindroo, Paul S Dy, Suraj P Hande, Christopher R D'Adamo, Arun Mavanur, Asha Thomas, Florencia Mcallister, Ana De Jesus-Acosta Feb 2025

New Onset Diabetes Predicts Clinical Outcomes In Patients With Pancreatic Adenocarcinoma, Chirayu Mohindroo, Paul S Dy, Suraj P Hande, Christopher R D'Adamo, Arun Mavanur, Asha Thomas, Florencia Mcallister, Ana De Jesus-Acosta

Faculty, Staff and Student Publications

Background: One percent of pancreatic adenocarcinoma (PDAC) patients are diagnosed with new onset diabetes (NOD) over the age of 50 years within 3 years. Therefore, NOD is a major factor for early diagnosis of PDAC. Research has focused on understanding the differences between NOD and type 2 diabetes, particularly in relation to PDAC. However, conflicting data exists regarding their impact on survival outcomes in PDAC patients. We performed this multi-center study to assess the prevalence and influence of NOD on clinical outcomes in patients with PDAC within a community-based hospital system.

Methods: We conducted a retrospective cohort study of 138 …


Muscle-Specific Errγ Activation Mitigates Muscle Atrophy After Acl Injury, Aiping Lu, Katie J Sikes, Ping Guo, Matthieu Huard, Shelbi Green, Kelly Santangelo, Jacob Singer, Ashley Groesbeck, Scott Tashman, Vihang A Narkar, Johnny Huard Feb 2025

Muscle-Specific Errγ Activation Mitigates Muscle Atrophy After Acl Injury, Aiping Lu, Katie J Sikes, Ping Guo, Matthieu Huard, Shelbi Green, Kelly Santangelo, Jacob Singer, Ashley Groesbeck, Scott Tashman, Vihang A Narkar, Johnny Huard

Faculty, Staff and Student Publications

Anterior cruciate ligament (ACL) injury adversely affects skeletal muscle, leading to muscle atrophy and weakness, significantly impacting clinical outcomes. This study aimed to determine if estrogen-related receptor gamma (ERRγ) overexpression in skeletal muscle could mitigate muscle atrophy after ACL injury. An animal model with selective overexpression of ERRγ in skeletal muscle (ERR-gamma transgenic mice, TG) and WT control mice were used for this study. All the mice received a mechanical ACL rupture and were euthanized at 4- and 8-week post-injury. Muscle histology, atrophy, and function were evaluated and compared between the TG and WT mice. Muscle-specific ERRγ activation in TG …


Echocardiography And Heart Failure: An Echocardiographic Decision Aid For The Diagnosis And Management Of Cardiomyopathies., Ashley Pender, Jessica Lewis-Owona, Abdulmojeed Ekiyoyo, Marcus Stoddard Feb 2025

Echocardiography And Heart Failure: An Echocardiographic Decision Aid For The Diagnosis And Management Of Cardiomyopathies., Ashley Pender, Jessica Lewis-Owona, Abdulmojeed Ekiyoyo, Marcus Stoddard

Division of Cardiology Faculty Papers

PURPOSE OF REVIEW: The purpose of this review is to highlight the utility of echocardiography in the diagnosis and management of cardiomyopathies.

RECENT FINDINGS: Echocardiographic parameters function synergistically to guide decision-making ranging from early detection of disease and screening to risk stratification of complex disease. The collective wealth of information available from 2D/3D assessment, Doppler, diastology and strain makes echocardiography an invaluable decision aid.


Families' Experiences Of End-Of-Life Care In An Acute Private Hospital: A Qualitative Study, Rosemary Saunders, Susan Alexander, Julie Andrew, Anne Wilkinson, Karen Gullick, Ashwini Davray, Manonita Ghosh, Karla Seaman, Michelle Gay Feb 2025

Families' Experiences Of End-Of-Life Care In An Acute Private Hospital: A Qualitative Study, Rosemary Saunders, Susan Alexander, Julie Andrew, Anne Wilkinson, Karen Gullick, Ashwini Davray, Manonita Ghosh, Karla Seaman, Michelle Gay

Research outputs 2022 to 2026

Objectives This study explored bereaved relatives' experiences of end-of-life care (EoL care) in the last 3 days in an acute private hospital in Australia. Methods An interpretative qualitative study was conducted. Semi-structured interviews with 8 bereaved relatives whose family member had died at an acute private hospital shared their experiences of the EoL care during the last 3 days of life. The transcribed interviews were analyzed using inductive thematic analysis. Results Bereaved family members had mixed experiences, and their primary concerns related to the need for improvements in support for the family; communication; and clinicians partnering with families. The need …


When Two Doses Make All The Difference: The Case Of Factor V Leiden In A Young Hispanic Male, Alberto Pena, Janetly Reinoso, Liza Salloum, Khiem D. Ngo, Sobia Memon, Johanna Mora Feb 2025

When Two Doses Make All The Difference: The Case Of Factor V Leiden In A Young Hispanic Male, Alberto Pena, Janetly Reinoso, Liza Salloum, Khiem D. Ngo, Sobia Memon, Johanna Mora

Research Symposium

Background: Recurrent venous thromboembolism (VTE) causes a substantial burden, particularly when the cause is unclear. Traditionally VTE risks include older age, immobilization, obesity, and malignancy. When VTE recurs in a young patient without these traditional factors, genetics must be considered. Of the inherited thrombophilias, Factor V Leiden (FVL) is the most common. Normally, activated factor V combines with factor X to produce thrombin, leading to clot formation. This process is regulated by activated protein C (APC), which inactivates factor V to stop coagulation. FVL is a single-base point mutation at one of the APC cleavage sites on Factor Va and …


Interim Estimates Of 2024-2025 Seasonal Influenza Vaccine Effectiveness - Four Vaccine Effectiveness Networks, United States, October 2024-February 2025., Aaron M. Frutos, Seana Cleary, Emily L. Reeves, Haris M. Ahmad, Ashley M. Price, Wesley H. Self, Yuwei Zhu, Basmah Safdar, Ithan D. Peltan, Kevin W. Gibbs, Matthew C. Exline, Adam S. Lauring, Sarah W. Ball, Malini Desilva, Sara Y. Tartof, Kristin Dascomb, Stephanie A. Irving, Nicola P. Klein, Brian E. Dixon, Toan C. Ong, Ivana A. Vaughn, Stacey L. House, Kiran A. Faryar, Mary Patricia Nowalk, Manjusha Gaglani, Karen J. Wernli, Vel Murugan, Olivia L. Williams, Rangaraj Selvarangan, Geoffrey A. Weinberg, Mary A. Staat, Natasha B. Halasa, Leila C. Sahni, Marian G. Michaels, Janet A. Englund, Marie K. Kirby, Diya Surie, Fatimah S. Dawood, Benjamin R. Clopper, Heidi L Moline, Ruth Link-Gelles, Amanda B. Payne, Elizabeth Harker, Kristina Wielgosz, Zachary A. Weber, Duck-Hye Yang, Nathaniel M. Lewis, Jennifer Decuir, Samantha M. Olson, Jessie R. Chung, Brendan Flannery, Lisa A. Grohskopf, Carrie Reed, Shikha Garg, Sascha Ellington, Cdc Influenza Vaccine Effectiveness Collaborators Feb 2025

Interim Estimates Of 2024-2025 Seasonal Influenza Vaccine Effectiveness - Four Vaccine Effectiveness Networks, United States, October 2024-February 2025., Aaron M. Frutos, Seana Cleary, Emily L. Reeves, Haris M. Ahmad, Ashley M. Price, Wesley H. Self, Yuwei Zhu, Basmah Safdar, Ithan D. Peltan, Kevin W. Gibbs, Matthew C. Exline, Adam S. Lauring, Sarah W. Ball, Malini Desilva, Sara Y. Tartof, Kristin Dascomb, Stephanie A. Irving, Nicola P. Klein, Brian E. Dixon, Toan C. Ong, Ivana A. Vaughn, Stacey L. House, Kiran A. Faryar, Mary Patricia Nowalk, Manjusha Gaglani, Karen J. Wernli, Vel Murugan, Olivia L. Williams, Rangaraj Selvarangan, Geoffrey A. Weinberg, Mary A. Staat, Natasha B. Halasa, Leila C. Sahni, Marian G. Michaels, Janet A. Englund, Marie K. Kirby, Diya Surie, Fatimah S. Dawood, Benjamin R. Clopper, Heidi L Moline, Ruth Link-Gelles, Amanda B. Payne, Elizabeth Harker, Kristina Wielgosz, Zachary A. Weber, Duck-Hye Yang, Nathaniel M. Lewis, Jennifer Decuir, Samantha M. Olson, Jessie R. Chung, Brendan Flannery, Lisa A. Grohskopf, Carrie Reed, Shikha Garg, Sascha Ellington, Cdc Influenza Vaccine Effectiveness Collaborators

Manuscripts, Articles, Book Chapters and Other Papers

Annual influenza vaccination is recommended for all persons aged ≥6 months in the United States. Interim influenza vaccine effectiveness (VE) was calculated among patients with acute respiratory illness-associated outpatient visits and hospitalizations from four VE networks during the 2024-25 influenza season (October 2024-February 2025). Among children and adolescents agedyears, VE against any influenza was 32%, 59%, and 60% in the outpatient setting in three networks, and against influenza-associated hospitalization was 63% and 78% in two networks. Among adults aged ≥18 years, VE in the outpatient setting was 36% and 54% in two networks and was 41% and 55% against hospitalization …


Nanometer Condensate Organization In Live Cells Derived From Partitioning Measurements, Christina Dollinger, Evdokiia Potolitsyna, Abigail G Martin, Archish Anand, Gandhar K Datar, Jeremy D Schmit, Joshua A Riback Feb 2025

Nanometer Condensate Organization In Live Cells Derived From Partitioning Measurements, Christina Dollinger, Evdokiia Potolitsyna, Abigail G Martin, Archish Anand, Gandhar K Datar, Jeremy D Schmit, Joshua A Riback

Faculty, Staff and Students Publications

Biomolecules associate, forming condensates that house essential biochemical processes, including ribosome biogenesis. Unraveling how condensates shape macromolecular assembly and transport requires cellular measurements of nanoscale structure. Here, we determine the organization around and between specific proteins at nanometer resolution within condensates, deploying thermodynamic principles to interpret partitioning measurements of designed protein probes. When applied to the nucleolus as a proof of principle, the data reveals considerable inhomogeneity, deviating from that expected within a liquid-like phase. The inhomogeneity can be attributed to ribosome biogenesis, with the local meshwork weakening as biogenesis progresses, facilitating transport. Beyond introducing an innovative modality for biophysical …