Medical Specialties Commons^™

Promoting Ocd Wellness And Resilience (Power) Study: Rationale, Design, And Methods, Jessica D Leuchter, Minjee Kook, Daniel A Geller, Alyssa G Hertz, Jessica Garcia, Erika S Trent, Tracey Dibbs, Ogechi Onyeka, Wayne K Goodman, Andrew G Guzick, Andrew D Wiese, Amanda D Palo, Brent J Small, H Blair Simpson, Lauren K Havel, Sohail A Nibras, Kirti Saxena, Eric A Storch

Faculty, Staff and Students Publications

Obsessive-compulsive disorder (OCD) affects 1-2% of children and is associated with functional impairment and diminished quality of life. Several treatments are efficacious: cognitive behavioral therapy (CBT) with exposure and response prevention, serotonin reuptake inhibitor (SRI) monotherapy, and combined treatment (SRI + CBT). Expert clinician-informed practice parameters suggest that youth with mild to moderate OCD should be treated initially with CBT yet SRIs are frequently employed as the first-line intervention or in combination with psychotherapy in applied practice. Empirical data to guide SRI discontinuation in pediatric OCD are very limited. This study, Promoting OCD Wellness and Resiliency (POWER), aims to address …

Effect Of Sarcopenia On Survival And Spinal Cord Deficit Outcomes After Thoracoabdominal Aortic Aneurysm Repair In Patients 60 Years Of Age And Older, Subhasis Chatterjee, Ann Shi, Luke Yoon, Susan Y Green, Qianzi Zhang, Hiruni S Amarasekara, Vicente Orozco-Sevilla, Ourania Preventza, Scott A Lemaire, Joseph S Coselli

Faculty, Staff and Students Publications

Objective: Sarcopenia (core muscle loss) has been used as a surrogate marker of frailty. We investigated whether sarcopenia would adversely affect survival after thoracoabdominal aortic aneurysm repair.

Methods: We retrospectively reviewed prospectively collected data from patients aged 60 years or older who underwent thoracoabdominal aortic aneurysm repairs from 2006 to 2016. Imaging was reviewed by 2 radiologists blinded to clinical outcomes. The total psoas index was derived from total psoas muscle cross-sectional area (cm2) at the mid-L4 level, normalized for height (m2). Patients were divided by sex-specific total psoas index values into sarcopenia (lower third) and nonsarcopenia (upper two-thirds) groups. …

A Scalable Platform For Fabricating Biodegradable Microparticles With Pulsatile Drug Release, Tyler P Graf, Sherry Yue Qiu, Dhruv Varshney, Mei-Li Laracuente, Erin M Euliano, Pujita Munnangi, Brett H Pogostin, Tsvetelina Baryakova, Arnav Garyali, Kevin J Mchugh

Faculty, Staff and Students Publications

Pulsatile drug delivery systems have the potential to improve patient adherence and therapeutic efficacy by providing a sequence of doses in a single injection. Herein, a novel platform, termed Particles Uniformly Liquified and Sealed to Encapsulate Drugs (PULSED) is developed, which enables the high-throughput fabrication of microparticles exhibiting pulsatile release. In PULSED, biodegradable polymeric microstructures with an open cavity are formed using high-resolution 3D printing and soft lithography, filled with drug, and sealed using a contactless heating step in which the polymer flows over the orifice to form a complete shell around a drug-loaded core. Poly(lactic-co-glycolic acid) particles with this …

Preterm Birth Alters The Feeding-Induced Activation Of Akt Signaling In The Muscle Of Neonatal Piglets, Agus Suryawan, Marko Rudar, Jane K Naberhuis, Marta L Fiorotto, Teresa A Davis

Faculty, Staff and Students Publications

BACKGROUND: Postnatal lean mass accretion is commonly reduced in preterm infants. This study investigated mechanisms involved in the blunted feeding-induced activation of Akt in the skeletal muscle of preterm pigs that contributes to lower protein synthesis rates.

METHODS: On day 3 following cesarean section, preterm and term piglets were fasted or fed an enteral meal. Activation of Akt signaling pathways in skeletal muscle was determined.

RESULTS: Akt1 and Akt2, but not Akt3, phosphorylation were lower in the skeletal muscle of preterm than in term pigs (P < 0.05). Activation of Akt-positive regulators, PDK1 and mTORC2, but not FAK, were lower in preterm than in term (P < 0.05). The formation of Akt complexes with GAPDH and Hsp90 and the abundance of Ubl4A were lower in preterm than in term (P < 0.05). The abundance of Akt inhibitors, PHLPP and SHIP2, but not PTEN and IP6K1, were higher in preterm than in term pigs (P < 0.05). PP2A activation was inhibited by feeding in term but not in preterm pigs (P < 0.05).

CONCLUSIONS: Our results suggest that preterm birth impairs regulatory components involved in Akt activation, …

Examination Of Parent-Reported Differences In Children’S Daily Screen Use, Sleep, And Sleep Hygiene Behaviors During The School Year And Summer And Their Association With Bmi, Jennette P Moreno, Alexis C Wood, Brooke Reichek, Hafza Dadabhoy, Tom Baranowski, Debbe Thompson, Teresia M O'Connor

Faculty, Staff and Students Publications

OBJECTIVE: The current study examined school-summer differences in children's sleep patterns and sleep hygiene. Cross-sectional relationships with children's sleep, sleep hygiene, and weight status were explored during the school year and summer.

METHODS: Children (5-8 years) and their parents (n = 197 dyads) were recruited from 4 schools in southeastern Texas and via Facebook. Parents reported children's school year and summer sleep, sleep hygiene, and screen media use. Children's body mass index (BMI) was objectively assessed at the beginning and end of the summer. Associations between children's sleep hygiene and screen media use, sleep duration, and weight status were explored. …

Covid-19 Vaccines And The Pandemic: Lessons Learnt For Other Neglected Diseases And Future Threats, Peter J Hotez, Sarah Gilbert, Melanie Saville, Lois Privor-Dumm, Salim Abdool-Karim, Didi Thompson, Jean-Louis Excler, Jerome H Kim

Faculty, Staff and Students Publications

Through the experiences gained by accelerating new vaccines for both Ebola virus infection and COVID-19 in a public health emergency, vaccine development has benefited from a 'multiple shots on goal' approach to new vaccine targets. This approach embraces simultaneous development of candidates with differing technologies, including, when feasible, vesicular stomatitis virus or adenovirus vectors, messenger RNA (mRNA), whole inactivated virus, nanoparticle and recombinant protein technologies, which led to multiple effective COVID-19 vaccines. The challenge of COVID-19 vaccine inequity, as COVID-19 spread globally, created a situation where cutting-edge mRNA technologies were preferentially supplied by multinational pharmaceutical companies to high-income countries while …

Medication-Induced Mood Disorders Following Epidural Steroid Injections In Patients With Pain: A Case Series, Christian T Vangeison, Joseph P Roys, Marissa N Catalanotto, Wyatt I Kupperman, Alexander R Kovacs, Dan Sebastian Dîrzu, Emanuel N Husu

Faculty, Staff and Students Publications

KEY CLINICAL MESSAGE: Medication-induced mood disorders following epidural steroid injections are possible therefore should be disclosed to the patient.

ABSTRACT: Medication-induced mood disorders have been rarely reported following epidural steroid injections (ESI). This case series presents three patients who met the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria for substance/medication-induced mood disorder after an ESI. In considering a candidacy for ESI, the rare but significant, side effects of psychiatric side effects should be disclosed to patients.

Promoting Ocd Wellness And Resilience (Power) Study: Rationale, Design, And Methods, Jessica D Leuchter, Minjee Kook, Daniel A Geller, Alyssa G Hertz, Jessica Garcia, Erika S Trent, Tracey Dibbs, Ogechi Onyeka, Wayne K Goodman, Andrew G Guzick, Andrew D Wiese, Amanda D Palo, Brent J Small, H Blair Simpson, Lauren K Havel, Sohail A Nibras, Kirti Saxena, Eric A Storch

Faculty, Staff and Students Publications

Obsessive-compulsive disorder (OCD) affects 1-2% of children and is associated with functional impairment and diminished quality of life. Several treatments are efficacious: cognitive behavioral therapy (CBT) with exposure and response prevention, serotonin reuptake inhibitor (SRI) monotherapy, and combined treatment (SRI + CBT). Expert clinician-informed practice parameters suggest that youth with mild to moderate OCD should be treated initially with CBT yet SRIs are frequently employed as the first-line intervention or in combination with psychotherapy in applied practice. Empirical data to guide SRI discontinuation in pediatric OCD are very limited. This study, Promoting OCD Wellness and Resiliency (POWER), aims to address …

Distinguishing Renal Cell Carcinoma From Normal Kidney Tissue Using Mass Spectrometry Imaging Combined With Machine Learning, Vishnu Shankar, Kanchustambham Vijayalakshmi, Rosalie Nolley, Geoffrey A Sonn, Chia-Sui Kao, Hongjuan Zhao, Ru Wen, Livia S Eberlin, Robert Tibshirani, Richard N Zare, James D Brooks

Faculty, Staff and Students Publications

PURPOSE: Accurately distinguishing renal cell carcinoma (RCC) from normal kidney tissue is critical for identifying positive surgical margins (PSMs) during partial and radical nephrectomy, which remains the primary intervention for localized RCC. Techniques that detect PSM with higher accuracy and faster turnaround time than intraoperative frozen section (IFS) analysis can help decrease reoperation rates, relieve patient anxiety and costs, and potentially improve patient outcomes.

MATERIALS AND METHODS: Here, we extended our combined desorption electrospray ionization mass spectrometry imaging (DESI-MSI) and machine learning methodology to identify metabolite and lipid species from tissue surfaces that can distinguish normal tissues from clear cell …

Contributions From Medical Geneticists In Clinical Trials Of Genetic Therapies: A Points To Consider Statement Of The American College Of Medical Genetics And Genomics (Acmg), Loren D M Peña, Lindsay C Burrage, Gregory M Enns, Edward D Esplin, Cary Harding, Jerry R Mendell, Zhiyv Neal Niu, Curt Scharfe, Timothy Yu, Dwight D Koeberl

Faculty, Staff and Students Publications

No abstract provided.

Dual-Target Deep Brain Stimulation For Obsessive-Compulsive Disorder And Tourette Syndrome, Ricardo A Najera, Nicole Provenza, Huy Dang, Kalman A Katlowitz, Alyssa Hertz, Sandesh Reddy, Ben Shofty, Steven T Bellows, Eric A Storch, Wayne K Goodman, Sameer A Sheth

Faculty, Staff and Students Publications

No abstract provided.

Interstitial Nephritis: Wherefrom, Wherein, And Whereto, Garabed Eknoyan

Faculty, Staff and Students Publications

Abnormalities of the renal interstitium were noted early while identifying chronic kidney disease in 1827; however, interest in glomerular and vascular lesions was then distracted from their further study. As a complication of scarlet fever, interstitial lesions attracted attention in 1859 and came to be defined as acute interstitial nephritis in 1898. The chronic form of interstitial nephritis was traditionally attributed to pyelonephritis until the advent of kidney biopsy in the 1950s, when interstitial lesions were recognized as an independent primary cause of chronic kidney disease from studies of analgesic nephropathy and vesico-ureteral reflux. The term tubulointerstitial nephritis was introduced …

Characterization Of Folic Acid, 5-Methyltetrahydrofolate And Synthetic Folinic Acid In The High-Affinity Folate Transporters: Impact On Pregnancy And Development, Ana M Palacios, Rachel A Feiner, Robert M Cabrera

Faculty, Staff and Students Publications

Folates are B vitamins that are essential for several molecular, cellular, and biological processes, including nucleotide synthesis, methylation, and methionine cycling. The physiological impacts of these processes on health also extend to cell proliferation, folate deficiency anemia, and reduction of the risk of birth defects during pregnancy. The primary objective of this study was to characterize the binding affinities of different folate forms, folic acid (FA), 5-methyltetrahydrofolate (5MTHF), and folinic acid, to the folate receptors α and β, and to the bovine milk folate binding protein. These three dietary forms of folate are found in enriched grains (FA), various fruits …

Frequent Questions And Responses On The 2022 Lipoprotein(A) Consensus Statement Of The European Atherosclerosis Society, Florian Kronenberg, Samia Mora, Erik S G Stroes, Brian A Ference, Benoit J Arsenault, Lars Berglund, Marc R Dweck, Marlys L Koschinsky, Gilles Lambert, François Mach, Catherine J Mcneal, Patrick M Moriarty, Pradeep Natarajan, Børge G Nordestgaard, Klaus G Parhofer, Salim S Virani, Arnold Von Eckardstein, Gerald F Watts, Jane K Stock, Kausik K Ray, Lale S Tokgözoğlu, Alberico L Catapano

Faculty, Staff and Students Publications

In 2022, the European Atherosclerosis Society (EAS) published a new consensus statement on lipoprotein(a) [Lp(a)], summarizing current knowledge about its causal association with atherosclerotic cardiovascular disease (ASCVD) and aortic stenosis. One of the novelties of this statement is a new risk calculator showing how Lp(a) influences lifetime risk for ASCVD and that global risk may be underestimated substantially in individuals with high or very high Lp(a) concentration. The statement also provides practical advice on how knowledge about Lp(a) concentration can be used to modulate risk factor management, given that specific and highly effective mRNA-targeted Lp(a)-lowering therapies are still in clinical …

Novel Pathogenic Cerkl Variant In Iranian Familial With Inherited Retinal Dystrophies: Genotype–Phenotype Correlation, Shangyi Fu, Jiewen Fu, Abdolkarim Mobasher-Jannat, Khosrow Jadidi, Yumei Li, Rui Chen, Saber Imani, Jingliang Cheng

Faculty, Staff and Students Publications

Inherited retinal dystrophies (IRDs) include a large chronic heterogeneity genetic disease. While many disease-causing pathogenic variants were involved in the progression of IRD, the Ceramide Kinase Like (CERKL) gene variant in Iranian patients is not well characterized. In this study, a consanguineous Iranian family with three generations was recruited whom presented with the clinical diagnosis of autosomal recessive IRD. By targeted next-generation sequencing (TGS) and Sanger sequencing, the proband was found to have a novel, pathological homozygous deletion variant c.560_568del (p.187_190del) of the CERKL gene (NM_001030311.2) that co-segregated with the disease in all affected family members. …

Association Between Modifiable Social Determinants And Mental Health Among Post-9/11 Veterans: A Systematic Review, Nipa Kamdar, Sundas Khan, Diana P Brostow, Lia Spencer, Sharmily Roy, Amy Sisson, Natalie E Hundt

Faculty, Staff and Students Publications

Introduction: As U.S. Veterans reintegrate from active duty to civilian life, many are at risk for negative modifiable social determinants of health. The prevalence of mental health conditions among Veterans is also high. Awareness of the associations between these two factors is growing. This systematic review provides a comprehensive analysis of the current state of knowledge of the associations between modifiable social determinants and mental health among U.S. Veterans.

Methods: The authors systematically searched four databases and identified 28 articles representing 25 unique studies that met inclusion criteria. Findings from the studies were extracted and synthesized on the basis of …

Declining Autozygosity Over Time: An Exploration In Over 1 Million Individuals From Three Diverse Cohorts, Sarah M C Colbert, Frank R Wendt, Gita A Pathak, Drew A Helmer, Elizabeth R Hauser, Matthew C Keller, Renato Polimanti, Emma C Johnson

Faculty, Staff and Students Publications

Previous studies have hypothesized that autozygosity is decreasing over generational time. However, these studies were limited to relatively small samples (n < 11,000) lacking in diversity, which may limit the generalizability of their findings. We present data that partially support this hypothesis from three large cohorts of diverse ancestries, two from the US (All of Us, n = 82,474; the Million Veteran Program, n = 622,497) and one from the UK (UK Biobank, n = 380,899). Our results from a mixed-effect meta-analysis demonstrate an overall trend of decreasing autozygosity over generational time (meta-analyzed slope = -0.029, SE = 0.009, p = 6.03e-4). On the basis of our estimates, we would predict F

Thirty-Day Outcomes Of Resolute Onyx Stent For Symptomatic Intracranial Stenosis: A Multicenter Propensity Score-Matched Comparison With Stenting Versus Aggressive Medical Management For Preventing Recurrent Stroke In Intracranial Stenosis Trial, Farhan Siddiq, Ravi S Nunna, Jonathan M Beall, Inamullah Khan, Musharaf Khan, Wondwossen G Tekle, Mohamad Ezzeldin, Omar Tanweer, Jan-Karl Burkhardt, Pascal M Jabbour, Stavropoula I Tjoumakaris, Nabeel A Herial, Adnan H Siddiqui, Ramesh Grandhi, Renee L Martin, Adnan I Qureshi, Ameer E Hassan

Faculty, Staff and Students Publications

BACKGROUND: Symptomatic intracranial atherosclerotic disease (sICAD) is estimated to cause 10% of strokes annually in the United States. However, treatment remains a challenge with several different stenting options studied in the past with unfavorable results.

OBJECTIVE: To report the 30-day stroke and/or death rate associated with intracranial stent placement for sICAD using Resolute Onyx Zotarolimus-Eluting Stent (RO-ZES) and provide a comparison with the results of Stenting Versus Aggressive Medical Management for Preventing Recurrent Stroke in Intracranial Stenosis (SAMMPRIS) trial.

METHODS: Prospectively maintained databases across 8 stroke centers were used to identify adult patients treated with RO-ZES for sICAD between January …

A Case Report Of Unusual Presentation Of A Rare Renal Tumor, Farzaneh Sharifiaghdas, Behzad Narouie, Mohammad Ghasemi-Rad, Fatemeh Moosavian, Mohadese Ahmadzade, Hamidreza Rouientan

Faculty, Staff and Students Publications

There are very few cases of primary renal Ewing sarcomas, which are characterized by a high rate of metastasis. These tumors are often mistaken for other more common kidney tumors due to their rarity and lack of pathognomonic symptoms in the early stages. A 28-year-old male patient presented to our clinic with a 2-month history of nonproductive progressive cough and left flank pain. The chest was scanned with contrast-enhanced computed tomography, which showed a heterogeneously enhancing mass with central vascularity on the left retroperitoneal. An abdominal dynamic multiphasic magnetic resonance imaging with contrast revealed a large mass that was highly …

Reworking Emergency Medicine Resident Education Post-Dobbs V Jackson Women's Health Organization, Monica Rakesh Saxena, Esther K Choo, Sara Andrabi

Faculty, Staff and Students Publications

No abstract provided.

Static Perimetry In The Rate Of Progression In Ush2a-Related Retinal Degeneration (Rush2a) Study: Assessment Through 2 Years, Jacque L Duncan, Peiyao Cheng, Maureen G Maguire, Allison A Ayala, David G Birch, Janet K Cheetham, Todd A Durham, Abigail T Fahim, Carel B Hoyng, Hiroshi Ishikawa, Michel Michaelides, Mark E Pennesi, José-Alain Sahel, Katarina Stingl, Christina Y Weng

Faculty, Staff and Students Publications

PURPOSE: To evaluate disease progression using static perimetry (SP) in patients with USH2A-related retinal degeneration, including Usher syndrome type 2 (USH2) and nonsyndromic autosomal recessive retinitis pigmentosa.

DESIGN: Prospective, observational cohort study.

METHODS: A total of 102 patients with biallelic disease-causing sequence variants in USH2A with baseline best-corrected visual acuity (BCVA) letter score ≥54 were recruited from 16 clinical sites in Europe and North America. SP, BCVA, full-field stimulus thresholds, spectral domain optical coherence tomography macular scans, and fundus-guided mesopic microperimetry were performed at baseline and annually. The main outcome measures were total hill of vision (V

RESULTS: The average …

Optimising Clinical Care Through Cdh1-Specific Germline Variant Curation: Improvement Of Clinical Assertions And Updated Curation Guidelines, Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Liying Zhang, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, Carla Oliveira, Sharon E Plon, Kasmintan A Schrader, Rachid Karam, Clingen Cdh1 Variant Curation Expert Panel

Faculty, Staff and Students Publications

BACKGROUND: Germline pathogenic variants in CDH1 are associated with increased risk for diffuse gastric cancer and lobular breast cancer. Risk-reduction strategies include consideration of prophylactic surgery, thereby making accurate interpretation of germline CDH1 variants critical for physicians deciding upon these procedures. The Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert Panel (VCEP) developed specifications for CDH1 variant curation with a goal to resolve variants of uncertain significance (VUS) and with ClinVar conflicting interpretations and continues to update these specifications.

METHODS:CDH1 variant classification specifications were modified based on updated genetic testing clinical criteria, new recommendations from ClinGen, and expert knowledge …

Clinical Spectrum And Genetic Causes Of Mitochondrial Hepatopathy Phenotype In Children, James E Squires, Alexander G Miethke, C Alexander Valencia, Kieran Hawthorne, Lisa Henn, Johan L K Van Hove, Robert H Squires, Kevin Bove, Simon Horslen, Rohit Kohli, Jean P Molleston, Rene Romero, Estella M Alonso, Jorge A Bezerra, Stephen L Guthery, Evelyn Hsu, Saul J Karpen, Kathleen M Loomes, Vicky L Ng, Philip Rosenthal, Krupa Mysore, Kasper S Wang, Marisa W Friederich, John C Magee, Ronald J Sokol, Childhood Liver Disease Research Network (Children)

Faculty, Staff and Students Publications

BACKGROUND: Alterations in both mitochondrial DNA (mtDNA) and nuclear DNA genes affect mitochondria function, causing a range of liver-based conditions termed mitochondrial hepatopathies (MH), which are subcategorized as mtDNA depletion, RNA translation, mtDNA deletion, and enzymatic disorders. We aim to enhance the understanding of pathogenesis and natural history of MH.

METHODS: We analyzed data from patients with MH phenotypes to identify genetic causes, characterize the spectrum of clinical presentation, and determine outcomes.

RESULTS: Three enrollment phenotypes, that is, acute liver failure (ALF, n = 37), chronic liver disease (Chronic, n = 40), and post-liver transplant (n = 9), were analyzed. …

Forging New Therapeutic Targets: Efforts Of Tumor Derived Exosomes To Prepare The Pre-Metastatic Niche For Cancer Cell Dissemination And Dormancy, Ranvir Bhatia, Joanna Chang, Jessian L Munoz, Nykia D Walker

Faculty, Staff and Students Publications

Tumor-derived exosomes play a multifaceted role in preparing the pre-metastatic niche, promoting cancer dissemination, and regulating cancer cell dormancy. A brief review of three types of cells implicated in metastasis and an overview of other types of extracellular vesicles related to metastasis are described. A central focus of this review is on how exosomes influence cancer progression throughout metastatic disease. Exosomes are crucial mediators of intercellular communication by transferring their cargo to recipient cells, modulating their behavior, and promoting tumor pro-gression. First, their functional role in cancer cell dissemination in the peripheral blood by facilitating the establishment of a pro-angiogenic …

Vigorous Exercise In Patients With Hypertrophic Cardiomyopathy, Rachel Lampert, Michael J Ackerman, Bradley S Marino, Matthew Burg, Barbara Ainsworth, Lisa Salberg, Maria Teresa Tome Esteban, Carolyn Y Ho, Roselle Abraham, Seshadri Balaji, Cheryl Barth, Charles I Berul, Martijn Bos, David Cannom, Lubna Choudhury, Maryann Concannon, Robert Cooper, Richard J Czosek, Anne M Dubin, James Dziura, Benjamin Eidem, Michael S Emery, N A Mark Estes, Susan P Etheridge, Jeffrey B Geske, Belinda Gray, Kevin Hall, Kimberly G Harmon, Cynthia A James, Ashwin K Lal, Ian H Law, Fangyong Li, Mark S Link, William J Mckenna, Silvana Molossi, Brian Olshansky, Steven R Ommen, Elizabeth V Saarel, Sara Saberi, Laura Simone, Gordon Tomaselli, James S Ware, Douglas P Zipes, Sharlene M Day, Live Consortium

Faculty, Staff and Students Publications

IMPORTANCE: Whether vigorous intensity exercise is associated with an increase in risk of ventricular arrhythmias in individuals with hypertrophic cardiomyopathy (HCM) is unknown.

OBJECTIVE: To determine whether engagement in vigorous exercise is associated with increased risk for ventricular arrhythmias and/or mortality in individuals with HCM. The a priori hypothesis was that participants engaging in vigorous activity were not more likely to have an arrhythmic event or die than those who reported nonvigorous activity.

DESIGN, SETTING, AND PARTICIPANTS: This was an investigator-initiated, prospective cohort study. Participants were enrolled from May 18, 2015, to April 25, 2019, with completion in February 28, …

Evaluation Of An Automated Genome Interpretation Model For Rare Disease Routinely Used In A Clinical Genetic Laboratory, Linyan Meng, Ruben Attali, Tomer Talmy, Yakir Regev, Niv Mizrahi, Pola Smirin-Yosef, Liesbeth Vossaert, Christian Taborda, Michael Santana, Ido Machol, Rui Xiao, Hongzheng Dai, Christine Eng, Fan Xia, Shay Tzur

Faculty, Staff and Students Publications

Purpose: The analysis of exome and genome sequencing data for the diagnosis of rare diseases is challenging and time-consuming. In this study, we evaluated an artificial intelligence model, based on machine learning for automating variant prioritization for diagnosing rare genetic diseases in the Baylor Genetics clinical laboratory.

Methods: The automated analysis model was developed using a supervised learning approach based on thousands of manually curated variants. The model was evaluated on 2 cohorts. The model accuracy was determined using a retrospective cohort comprising 180 randomly selected exome cases (57 singletons, 123 trios); all of which were previously diagnosed and solved …

Commentary On "Mini-Open Intercostal Retroperitoneal Approach For Upper Lumbar Spine Lateral Interbody Fusion", Alexander E Ropper

Faculty, Staff and Students Publications

No abstract provided.

Imaging Of Pediatric Calvarial And Skull Base Tumors: A Cog Diagnostic Imaging Committee/Spr Oncology Committee/Asnpr White Paper, Jarunee Intrapiromkul, Pattana Wangaryattawanich, Zoltan Patay, Thierry A G M Huisman, Jason N Wright, Jeremy Y Jones, Raghu Ramakrishnaiah, Rajan Patel, Adam E Goldman-Yassen, Stephen Kralik, Mark Mamlouk, Nilesh K Desai

Faculty, Staff and Students Publications

A standardized imaging protocol for pediatric oncology patients is essential for accurate and efficient imaging, while simultaneously promoting collaborative understanding of pathologies and radiologic assessment of treatment response. The objective of this article is to provide standardized pediatric imaging guidelines and parameters for evaluation of tumors of the pediatric orbit, calvarium, skull base, and temporal bone. This article was drafted based on current scientific literature as well as consensus opinions of imaging experts in collaboration with the Children's Oncology Group Diagnostic Imaging Committee, Society of Pediatric Radiology Oncology Committee, and American Society of Pediatric Neuroradiology.

Fetal Malrotation With Midgut Volvulus: Prenatal Diagnosis And Planning, Oluyinka O Olutoye, J D Hammond, Jamie Gilley, Ross M Beckman, Marie Bulathsinghala, Sonya S Keswani, Jonathan Davies, Mark V Mazziotti, Roopali Donepudi, Michael A Belfort, Alice King, Pamela M Ketwaroo, Timothy C Lee

Faculty, Staff and Students Publications

Introduction: Malrotation of the intestinal tract is a congenital malformation commonly found either incidentally or after affected individuals develop signs and symptoms of intestinal obstruction. Malrotation is prone to midgut volvulus that can cause intestinal obstruction and lead to ischemia and necrosis requiring emergent surgical intervention. Rare instances of in utero midgut volvulus have been reported in the literature and carry a high mortality given the difficulty in establishing a diagnosis prior to development of signs of intestinal ischemia and necrosis. Advancements in imaging have made it possible to diagnose in utero malrotation earlier, raising the question of optimal timing …

Splendid Isolation, Dimitrios Laurin Wagner, Maksim Mamonkin

Faculty, Staff and Students Publications

No abstract provided.