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Obturator Neurectomy For The Treatment Of Adductor Spasticity: A Novel Technique And Case Series, Maximillian S Feygin, Michael Larkin, Dan Curry, Scott B Rosenfeld, Aloysia Schwabe, Nisha Gadgil
Obturator Neurectomy For The Treatment Of Adductor Spasticity: A Novel Technique And Case Series, Maximillian S Feygin, Michael Larkin, Dan Curry, Scott B Rosenfeld, Aloysia Schwabe, Nisha Gadgil
Faculty, Staff and Students Publications
Background The management of adductor spasticity and long-term sequelae for cerebral palsy (CP) patients is complex. Hip displacement is a common consequence of CP, and obturator neurectomy (ON) is a potentially underutilized procedure to address the underlying adductor spasticity. The aim of this study is to describe the operational technique of ON and highlight the potential efficacy of ON in reducing spasticity, as well as pain, hip, and functional outcomes in these patients. Methods A total of eight patients from Texas Children's Hospital who underwent ON between 2008 and 2023 were included in this case series. Results ON led to …
Fetal Lower Urinary Tract Obstruction: International Delphi Consensus On Management And Core Outcome Set, H J Mustafa, A Khalil, S Johnson, S J Gordijn, W Ganzevoort, C Melling, C J Koh, G T Mandy, M D Kilby, A Johnson, R A Quintero, G Ryan, A A Shamshirsaz, A A Nassr, On Behalf Of The Luto Working Group
Fetal Lower Urinary Tract Obstruction: International Delphi Consensus On Management And Core Outcome Set, H J Mustafa, A Khalil, S Johnson, S J Gordijn, W Ganzevoort, C Melling, C J Koh, G T Mandy, M D Kilby, A Johnson, R A Quintero, G Ryan, A A Shamshirsaz, A A Nassr, On Behalf Of The Luto Working Group
Faculty, Staff and Students Publications
OBJECTIVES: To reach an international expert consensus on the diagnosis, prognosis and management of fetal lower urinary tract obstruction (LUTO) by means of a Delphi procedure, and to use this to define a core outcome set (COS).
METHODS: A three-round Delphi procedure was conducted among an international panel of experts in fetal LUTO. The panel was provided with a list of literature-based parameters to consider for the diagnosis, prognosis, management and outcomes of LUTO. A parallel procedure was conducted with patient groups during the development of the COS.
RESULTS: A total of 168 experts were approached, of whom 99 completed …
A Cross-Systems Primer For Synthetic Microbial Communities, Elijah C Mehlferber, Gontran Arnault, Bishnu Joshi, Laila P Partida-Martinez, Kathryn A Patras, Marie Simonin, Britt Koskella
A Cross-Systems Primer For Synthetic Microbial Communities, Elijah C Mehlferber, Gontran Arnault, Bishnu Joshi, Laila P Partida-Martinez, Kathryn A Patras, Marie Simonin, Britt Koskella
Faculty, Staff and Students Publications
The design and use of synthetic communities, or SynComs, is one of the most promising strategies for disentangling the complex interactions within microbial communities, and between these communities and their hosts. Compared to natural communities, these simplified consortia provide the opportunity to study ecological interactions at tractable scales, as well as facilitating reproducibility and fostering interdisciplinary science. However, the effective implementation of the SynCom approach requires several important considerations regarding the development and application of these model systems. There are also emerging ethical considerations when both designing and deploying SynComs in clinical, agricultural or environmental settings. Here we outline current …
Diffuse Glioneuronal Tumor With Oligodendroglioma-Like Features And Nuclear Clusters Relapse In A Seven-Year-Old Boy: An Unusual Case Exhibiting Near-Tetraploidy And Chromosome 14 Diploidy, Francis M Torres, Thomas Denapoli, Ping-Sun Chen, Carrie Mohila, Kevin E Fisher, Kenneth Aldape, Mark R Lee, Timothy C Griffin
Diffuse Glioneuronal Tumor With Oligodendroglioma-Like Features And Nuclear Clusters Relapse In A Seven-Year-Old Boy: An Unusual Case Exhibiting Near-Tetraploidy And Chromosome 14 Diploidy, Francis M Torres, Thomas Denapoli, Ping-Sun Chen, Carrie Mohila, Kevin E Fisher, Kenneth Aldape, Mark R Lee, Timothy C Griffin
Faculty, Staff and Students Publications
Diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (DGONC) is a rare brain tumor of the central nervous system (CNS). Although only a few cases of DGONC have been reported following the initial description of the tumor, they have a distinct DNA methylation pattern and share a recurrent chromosomal finding of monosomy 14. We encountered a seven-year-old boy who presented with seizures and was found to have a left frontal and suprasellar mass. The tumor was grossly totally resected; histopathologic evaluation showed a cellular glioneuronal tumor with brisk mitotic activity. A near-tetraploid chromosome complement was detected, with associated diploidy …
Experiences Of Midwestern Obstetric Clinicians During The Coronavirus Disease 2019 Pandemic, Drishti D Sinha, Megan Foeller, Abigail S Bell, Anthony J Nixon, Darrell Hudson, Aimee S James, Amy R Scheffer, Ana A Baumann, Emily Diveley, Ebony B Carter, Nandini Raghuraman, Indira U Mysorekar, Jeannie C Kelly
Experiences Of Midwestern Obstetric Clinicians During The Coronavirus Disease 2019 Pandemic, Drishti D Sinha, Megan Foeller, Abigail S Bell, Anthony J Nixon, Darrell Hudson, Aimee S James, Amy R Scheffer, Ana A Baumann, Emily Diveley, Ebony B Carter, Nandini Raghuraman, Indira U Mysorekar, Jeannie C Kelly
Faculty, Staff and Students Publications
BACKGROUND: The Coronavirus disease 2019 (COVID-19) pandemic led to healthcare system changes aimed at minimizing disease transmission that impacted experiences with obstetric healthcare.
OBJECTIVE: To explore experiences of clinicians providing obstetric care during the COVID-19 pandemic.
STUDY DESIGN: Qualitative, in-depth, semi-structured interviews were conducted with five nurse practitioners and 16 obstetrical physicians providing a mix of outpatient and inpatient obstetric care during the COVID-19 pandemic in a mid-sized, Midwestern city in the United States. Interviews elucidated challenges and facilitators of obstetric care provision and vaccination of pregnant patients against COVID-19 during the pandemic. Transcripts were coded inductively then deductively using …
Lack Of Detection Of Norwalk Virus In Saliva Samples From A Controlled Human Infection Model, Robert L Atmar, Frederick H Neill, Nicole M Hayes, Antone R Opekun, David Y Graham, Mary K Estes, Sasirekha Ramani
Lack Of Detection Of Norwalk Virus In Saliva Samples From A Controlled Human Infection Model, Robert L Atmar, Frederick H Neill, Nicole M Hayes, Antone R Opekun, David Y Graham, Mary K Estes, Sasirekha Ramani
Faculty, Staff and Students Publications
Following recent reports of norovirus replication in salivary gland cells, we examined whether the prototype norovirus strain, Norwalk virus (GI.1), could be detected in the saliva of 21 experimentally infected persons. Viral RNA was not detected in saliva 2 and 7 days after challenge despite high levels being present in feces.
Identification Of Single-Cell Blasts In Pediatric Acute Myeloid Leukemia Using An Autoencoder, Alice Driessen, Susanne Unger, An-Phi Nguyen, Rhonda E Ries, Soheil Meshinchi, Stefanie Kreutmair, Chiara Alberti, Pavel Sumazin, Richard Aplenc, Michele S Redell, Burkhard Becher, María Rodríguez Martínez
Identification Of Single-Cell Blasts In Pediatric Acute Myeloid Leukemia Using An Autoencoder, Alice Driessen, Susanne Unger, An-Phi Nguyen, Rhonda E Ries, Soheil Meshinchi, Stefanie Kreutmair, Chiara Alberti, Pavel Sumazin, Richard Aplenc, Michele S Redell, Burkhard Becher, María Rodríguez Martínez
Faculty, Staff and Students Publications
Pediatric acute myeloid leukemia (AML) is an aggressive blood cancer with a poor prognosis and high relapse rate. Current challenges in the identification of immunotherapy targets arise from patient-specific blast immunophenotypes and their change during disease progression. To overcome this, we present a new computational research tool to rapidly identify malignant cells. We generated single-cell flow cytometry profiles of 21 pediatric AML patients with matched samples at diagnosis, remission, and relapse. We coupled a classifier to an autoencoder for anomaly detection and classified malignant blasts with 90% accuracy. Moreover, our method assigns a developmental stage to blasts at the single-cell …
Vital Exhaustion And Biomarkers Associated With Cardiovascular Risk: The Aric Study, Matthew R Deshotels, Mahmoud Al Rifai, Caroline Sun, Ali Agha, Elizabeth Selvin, B Gwen Windham, Viola Vaccarino, Erin D Michos, Hani Jneid, Glenn N Levine, Christopher Fagundes, Salim S Virani, Christie M Ballantyne, Vijay Nambi
Vital Exhaustion And Biomarkers Associated With Cardiovascular Risk: The Aric Study, Matthew R Deshotels, Mahmoud Al Rifai, Caroline Sun, Ali Agha, Elizabeth Selvin, B Gwen Windham, Viola Vaccarino, Erin D Michos, Hani Jneid, Glenn N Levine, Christopher Fagundes, Salim S Virani, Christie M Ballantyne, Vijay Nambi
Faculty, Staff and Students Publications
BACKGROUND: Vital exhaustion, defined as excessive fatigue, demoralization, and irritability due to chronic stress, is independently associated with cardiovascular disease (CVD).
OBJECTIVES: The purpose of this study was to examine the association of vital exhaustion with biomarkers associated with CVD risk in the ARIC (Atherosclerosis Risk In Communities) study.
METHODS: We examined the cross-sectional association of vital exhaustion (assessed using the Maastricht Vital Exhaustion Questionnaire [MVEQ]) with cardiac biomarker (high-sensitivity troponin T [hs-TnT], N-terminal pro-B-type natriuretic peptide [NT-proBNP]) and high-sensitivity C-reactive protein (hs-CRP) levels in 11,542 ARIC study participants without CVD at ARIC visit 2 using multivariable logistic and linear …
Xenomake: A Pipeline For Processing And Sorting Xenograft Reads From Spatial Transcriptomic Experiments, Benjamin S Strope, Katherine E Pendleton, William Z Bowie, Gloria V Echeverria, Qian Zhu
Xenomake: A Pipeline For Processing And Sorting Xenograft Reads From Spatial Transcriptomic Experiments, Benjamin S Strope, Katherine E Pendleton, William Z Bowie, Gloria V Echeverria, Qian Zhu
Faculty, Staff and Students Publications
SUMMARY: Xenograft models are attractive models that mimic human tumor biology and permit one to perturb the tumor microenvironment and study its drug response. Spatially resolved transcriptomics (SRT) provides a powerful way to study the organization of xenograft models, but currently there is a lack of specialized pipeline for processing xenograft reads originated from SRT experiments. Xenomake is a standalone pipeline for the automated handling of spatial xenograft reads. Xenomake handles read processing, alignment, xenograft read sorting, and connects well with downstream spatial analysis packages. We additionally show that Xenomake can correctly assign organism-specific reads, reduce sparsity of data by …
Pharmacogenomic Insights In Psychiatric Care: Uncovering Novel Actionability, Allele-Specific Cyp2d6 Copy Number Variation, And Phenoconversion In 15,000 Patients, Jai N Patel, Sarah A Morris, Raul Torres, Brooke Rhead, Chris Vlangos, Daniel J Mueller, Lisa C Brown, Hailey Lefkofsky, Muneer Ali, Francisco M De La Vega, Kathleen C Barnes, Anthony Zoghbi, Joseph D Stanton, Marcus A Badgeley
Pharmacogenomic Insights In Psychiatric Care: Uncovering Novel Actionability, Allele-Specific Cyp2d6 Copy Number Variation, And Phenoconversion In 15,000 Patients, Jai N Patel, Sarah A Morris, Raul Torres, Brooke Rhead, Chris Vlangos, Daniel J Mueller, Lisa C Brown, Hailey Lefkofsky, Muneer Ali, Francisco M De La Vega, Kathleen C Barnes, Anthony Zoghbi, Joseph D Stanton, Marcus A Badgeley
Faculty, Staff and Students Publications
Pharmacogenomic testing has emerged as an aid in clinical decision making for psychiatric providers, but more data is needed regarding its utility in clinical practice and potential impact on patient care. In this cross-sectional study, we determined the real-world prevalence of pharmacogenomic actionability in patients receiving psychiatric care. Potential actionability was based on the prevalence of CYP2C19 and CYP2D6 phenotypes, including CYP2D6 allele-specific copy number variations (CNVs). Combined actionability additionally incorporated CYP2D6 phenoconversion and the novel CYP2C-TG haplotype in patients with available medication data. Across 15,000 patients receiving clinical pharmacogenomic testing, 65% had potentially actionable CYP2D6 and CYP2C19 phenotypes, and …
Impact And Recovery Of Vha Epilepsy Care Services During The Covid-19 Pandemic, Zulfi Haneef, Erin Sullivan-Baca, Rizwana Rehman, Alan Towne, Ann C Van Cott, Aatif Husain
Impact And Recovery Of Vha Epilepsy Care Services During The Covid-19 Pandemic, Zulfi Haneef, Erin Sullivan-Baca, Rizwana Rehman, Alan Towne, Ann C Van Cott, Aatif Husain
Faculty, Staff and Students Publications
BACKGROUND: The Epilepsy Centers of Excellence (ECoE) is a network of facilities within the Veterans Health Administration that evaluates and treats veterans with epilepsy and seizure disorders. This article outlines how the COVID-19 pandemic impacted ECoE services and recovery.
METHODS: Directors of 17 ECoEs were surveyed 4 times between May 2020 and July 2022 on 5 domains: functioning of outpatient epilepsy clinics, outpatient electroencephalogram, epilepsy monitoring unit, anticipated permanent operational changes, and utility of national and local recommendations. Data on the spread of COVID-19 and administrative workload data were compared with the availability of epilepsy services.
RESULTS: There was an …
Perivascular Epithelioid Cell-Family Tumors In Children, Adolescents, And Young Adults: Clinicopathologic Features In 70 Cases, Phoebe M Hammer, Angus Toland, Muhammad Shaheen, Archana Shenoy, Ashwini Esnakula, M John Hicks, Mikako Warran, Alyaa Al-Ibraheemi, Jessica L Davis, Serena Y Tan
Perivascular Epithelioid Cell-Family Tumors In Children, Adolescents, And Young Adults: Clinicopathologic Features In 70 Cases, Phoebe M Hammer, Angus Toland, Muhammad Shaheen, Archana Shenoy, Ashwini Esnakula, M John Hicks, Mikako Warran, Alyaa Al-Ibraheemi, Jessica L Davis, Serena Y Tan
Faculty, Staff and Students Publications
Context.—: Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors of uncertain histogenesis expressing smooth muscle and melanocytic markers. The clinicopathologic spectrum in young patients is not well documented.
Objective.—: To describe a multi-institutional series of PEComas in children, adolescents, and young adults.
Design.—: PEComas, not otherwise specified (NOS); angiomyolipomas (AMLs); lymphangioleiomyomatosis; and clear cell sugar tumors were retrospectively identified from 6 institutions and the authors' files.
Results.—: Seventy PEComas in 64 patients (median age, 15 years) were identified. They were more common in females (45 of 64 patients), occurring predominantly in the kidney (53 of 70), followed by the …
Mitochondrial Genome Analysis Across Different Populations Reveals The Intraspecific Variation And Phylogeography Of The Caucasian Soft Tick Relapsing Fever Vector, Ornithodoros (Pavlovskyella) Verrucosus (Ixodida: Argasidae), Serhii Filatov, Alexander R Kneubehl, Aparna Krishnavajhala, Giorgi Melashvili, Ana Tsitsishvili, Küşver Mamedova, Perot Saelao, Adalberto Á Pérez De León, Job E Lopez
Mitochondrial Genome Analysis Across Different Populations Reveals The Intraspecific Variation And Phylogeography Of The Caucasian Soft Tick Relapsing Fever Vector, Ornithodoros (Pavlovskyella) Verrucosus (Ixodida: Argasidae), Serhii Filatov, Alexander R Kneubehl, Aparna Krishnavajhala, Giorgi Melashvili, Ana Tsitsishvili, Küşver Mamedova, Perot Saelao, Adalberto Á Pérez De León, Job E Lopez
Faculty, Staff and Students Publications
Territories in southern parts of Eastern Europe and in the Caucasus are endemic for tick-borne relapsing fever (TBRF), caused by Borrelia caucasica. This spirochete is transmitted exclusively by the bites of Ornithodoros verrucosus; however, the distribution and genetic diversity of the tick vector have not been explored. To address this, we performed a phylogeographic study of O. verrucosus specimens collected across a large geographic distribution. We sequenced and analyzed complete mitochondrial genomes of 54 individual O. verrucosus ticks representing 23 geographically diverse populations from Ukraine, Georgia, and Azerbaijan. We detected 47 unique haplotypes, with every collection site exhibiting distinct polymorphisms. …
Yield Of Skeletal Surveys In National Network Of Child Abuse Pediatricians: Age Is Key, Caitlin R Mcnamara, Joanne N Wood, Daniel Lindberg, Kristine A Campbell, Spencer Poston, Matthew Valente, Maria Antonucci, Jennifer Wolford, Carmen Coombs, Hannah Sahud, Jennifer Clarke, Farah W Brink, Angela Bachim, Lori D Frasier, Nancy S Harper, John D Melville, Natalie Laub, James Anderst, Rachel P Berger
Yield Of Skeletal Surveys In National Network Of Child Abuse Pediatricians: Age Is Key, Caitlin R Mcnamara, Joanne N Wood, Daniel Lindberg, Kristine A Campbell, Spencer Poston, Matthew Valente, Maria Antonucci, Jennifer Wolford, Carmen Coombs, Hannah Sahud, Jennifer Clarke, Farah W Brink, Angela Bachim, Lori D Frasier, Nancy S Harper, John D Melville, Natalie Laub, James Anderst, Rachel P Berger
Faculty, Staff and Students Publications
Background: Skeletal surveys (SS) are recommended for the evaluation of suspected physical abuse in children < 2 years old. No guidelines exist for SS completion in children between 2 and 5 years old.
Objective: To determine rates of SS completion by age and examine variables associated with occult fracture identification in older children.
Participants and setting: Observational cross-sectional multi-center study of 10 US pediatric centers 2/2021-9/2022 including children < 6 years old evaluated for physical child abuse.
Methods: The principal outcome is occult fracture identified on SS. Non-parametric tests were conducted from comparison between age groups and those with and without occult fractures.
Results: The rate of SS completion declined with increasing age from a high of 91 % in infants < 6 months old to 7 % in children 5-5.9 years old. The proportion of SS with occult fractures also decreased with age. Of 450 children 2-5 years old with a SS, 20 [4 % (95 % CI: 3-8 %)] had an occult fracture. The rate of occult fractures among children 2-5 years old who were diagnosed with abuse and not admitted to the hospital was 0.3 % (95 % CI 0-0.6 %)]. Over 30 % of children 2-5 years old were diagnosed with child abuse by a child abuse pediatrician without completion of a SS.
Conclusion: In children 2-5 years of …
Scalp Bogginess In The Presence Of Lichen Planopilaris: Isolated Occurrence Or Reactionary Process?, Victoria S Jiminez, Eleanor Workman, Omid Jalali
Scalp Bogginess In The Presence Of Lichen Planopilaris: Isolated Occurrence Or Reactionary Process?, Victoria S Jiminez, Eleanor Workman, Omid Jalali
Faculty, Staff and Students Publications
Lipedematous scalp (LS) and lipedematous alopecia (LA) are rare conditions involving focal or diffuse hyperplasia within subcutaneous adipose tissue of the scalp. Little is known regarding the etiology of these conditions, and there is no consensus on management strategies. Overall, the condition is benign and often isolated. However, there have been reported cases of co-existing scalp edema in the presence of another pathogenic process involving the scalp and hair. The authors present a case of significant scalp edema in a middle-aged female who presented with lichen planopilaris (LPP) of the bifrontal scalp of four years duration. The patient had diffuse …
Alzheimer Disease-Related Biomarkers In Patients On Maintenance Hemodialysis, Arjun V Masurkar, Nisha Bansal, David K Prince, Wolfgang C Winkelmayer, Daniela F Ortiz, Gianna Ramos, Qandeel Soomro, Alok Vedvyas, Ricardo S Osorio, Mark A Bernard, Ludovic Debure, Wajiha Ahmed, Allal Boutajangout, Thomas Wisniewski, David M Charytan
Alzheimer Disease-Related Biomarkers In Patients On Maintenance Hemodialysis, Arjun V Masurkar, Nisha Bansal, David K Prince, Wolfgang C Winkelmayer, Daniela F Ortiz, Gianna Ramos, Qandeel Soomro, Alok Vedvyas, Ricardo S Osorio, Mark A Bernard, Ludovic Debure, Wajiha Ahmed, Allal Boutajangout, Thomas Wisniewski, David M Charytan
Faculty, Staff and Students Publications
No abstract provided.
Senescence Biomarkers And Trajectories Of Frailty And Physical Function After Kidney Transplantation, Elizabeth C Lorenz, Byron H Smith, Hani M Wadei, Girish Mour, Cassie C Kennedy, Carrie A Schinstock, Walter K Kremers, Andrea L Cheville, Latonya J Hickson, Elizabeth J Atkinson, Thomas A White, Andrew D Rule, Nathan K Lebrasseur
Senescence Biomarkers And Trajectories Of Frailty And Physical Function After Kidney Transplantation, Elizabeth C Lorenz, Byron H Smith, Hani M Wadei, Girish Mour, Cassie C Kennedy, Carrie A Schinstock, Walter K Kremers, Andrea L Cheville, Latonya J Hickson, Elizabeth J Atkinson, Thomas A White, Andrew D Rule, Nathan K Lebrasseur
Faculty, Staff and Students Publications
Cellular senescence is a biological mechanism of aging and age-related diseases. The aim of this study was to examine whether senescence biomarkers are associated with frailty and physical function trajectories in patients undergoing kidney transplantation (KT). We also discussed the relationship between senescence biomarkers and KT function. In this multicenter study, we prospectively assessed plasma levels of senescence biomarkers, frailty as measured by the Physical Frailty Phenotype, and physical function as measured by the Short Physical Performance Battery prior to KT. Frailty, physical function, and KT function were also measured 1 year after KT. Variable associations were assessed using Cox …
Burden Re-Analysis Of Neurodevelopmental Disorder Cohorts For Prioritization Of Candidate Genes, Noor Smal, Fatma Majdoub, Katrien Janssens, Edwin Reyniers, Marije E C Meuwissen, Berten Ceulemans, Hope Northrup, Jeremy B Hill, Lingying Liu, Edoardo Errichiello, Simone Gana, Alanna Strong, Luis Rohena, Rachel Franciskovich, Chaya N Murali, An Huybrechs, Telma Sulem, Run Fridriksdottir, Patrick Sulem, Kari Stefansson, Yan Bai, Jill A Rosenfeld, Seema R Lalani, Haley Streff, Undiagnosed Diseases Network, R Frank Kooy, Sarah Weckhuysen
Burden Re-Analysis Of Neurodevelopmental Disorder Cohorts For Prioritization Of Candidate Genes, Noor Smal, Fatma Majdoub, Katrien Janssens, Edwin Reyniers, Marije E C Meuwissen, Berten Ceulemans, Hope Northrup, Jeremy B Hill, Lingying Liu, Edoardo Errichiello, Simone Gana, Alanna Strong, Luis Rohena, Rachel Franciskovich, Chaya N Murali, An Huybrechs, Telma Sulem, Run Fridriksdottir, Patrick Sulem, Kari Stefansson, Yan Bai, Jill A Rosenfeld, Seema R Lalani, Haley Streff, Undiagnosed Diseases Network, R Frank Kooy, Sarah Weckhuysen
Faculty, Staff and Students Publications
This study aimed to uncover novel genes associated with neurodevelopmental disorders (NDD) by leveraging recent large-scale de novo burden analysis studies to enhance a virtual gene panel used in a diagnostic setting. We re-analyzed historical trio-exome sequencing data from 745 individuals with NDD according to the most recent diagnostic standards, resulting in a cohort of 567 unsolved individuals. Next, we designed a virtual gene panel containing candidate genes from three large de novo burden analysis studies in NDD and prioritized candidate genes by stringent filtering for ultra-rare de novo variants with high pathogenicity scores. Our analysis revealed an increased burden …
Family Lore, A Variant Of Uncertain Significance, And Cadasil, Rhys Duarte, Liesbeth Vossaert, Sandra A Darilek, Chelsi Rose, Evan Schauer, Christian Parobek, Emily Bland, Keren Machol, Elizabeth Mizerik, Chaya N Murali
Family Lore, A Variant Of Uncertain Significance, And Cadasil, Rhys Duarte, Liesbeth Vossaert, Sandra A Darilek, Chelsi Rose, Evan Schauer, Christian Parobek, Emily Bland, Keren Machol, Elizabeth Mizerik, Chaya N Murali
Faculty, Staff and Students Publications
An infant presents in extremis. After the medical team stabilizes him, the race is on to figure out why he got so sick in the first place. The consulting genetics team thinks that it is unlikely his problems are due to a genetic cause, but his extreme, confounding presentation is enough to justify trio exome sequencing. When the results reveal an unexpected, paternally inherited variant of uncertain significance (VUS) in NOTCH3, fresh questions arise. The infant's presenting symptoms and descriptive diagnoses, including hematemesis, epistaxis, and gastric ulcers, certainly do not fit the mold of CADASIL. However, closer inspection of his …
An Artificial Intelligence-Generated Model Predicts 90-Day Survival In Alcohol-Associated Hepatitis: A Global Cohort Study, Winston Dunn, Yanming Li, Ashwani K Singal, Douglas A Simonetto, Luis A Díaz, Francisco Idalsoaga, Gustavo Ayares, Jorge Arnold, María Ayala-Valverde, Diego Perez, Jaime Gomez, Rodrigo Escarate, Eduardo Fuentes-López, Carolina Ramirez-Cadiz, Dalia Morales-Arraez, Wei Zhang, Steve Qian, Joseph C Ahn, Seth Buryska, Heer Mehta, Nicholas Dunn, Muhammad Waleed, Horia Stefanescu, Andreea Bumbu, Adelina Horhat, Bashar Attar, Rohit Agrawal, Joaquín Cabezas, Victor Echavaría, Berta Cuyàs, Maria Poca, German Soriano, Shiv K Sarin, Rakhi Maiwall, Prasun K Jalal, Fátima Higuera-De-La-Tijera, Anand V Kulkarni, P Nagaraja Rao, Patricia Guerra-Salazar, Lubomir Skladaný, Natália Kubánek, Veronica Prado, Ana Clemente-Sanchez, Diego Rincon, Tehseen Haider, Kristina R Chacko, Gustavo A Romero, Florencia D Pollarsky, Juan C Restrepo, Luis G Toro, Pamela Yaquich, Manuel Mendizabal, Maria L Garrido, Sebastián Marciano, Melisa Dirchwolf, Victor Vargas, César Jiménez, David Hudson, Guadalupe García-Tsao, Guillermo Ortiz, Juan G Abraldes, Patrick S Kamath, Marco Arrese, Vijay H Shah, Ramon Bataller, Juan Pablo Arab
An Artificial Intelligence-Generated Model Predicts 90-Day Survival In Alcohol-Associated Hepatitis: A Global Cohort Study, Winston Dunn, Yanming Li, Ashwani K Singal, Douglas A Simonetto, Luis A Díaz, Francisco Idalsoaga, Gustavo Ayares, Jorge Arnold, María Ayala-Valverde, Diego Perez, Jaime Gomez, Rodrigo Escarate, Eduardo Fuentes-López, Carolina Ramirez-Cadiz, Dalia Morales-Arraez, Wei Zhang, Steve Qian, Joseph C Ahn, Seth Buryska, Heer Mehta, Nicholas Dunn, Muhammad Waleed, Horia Stefanescu, Andreea Bumbu, Adelina Horhat, Bashar Attar, Rohit Agrawal, Joaquín Cabezas, Victor Echavaría, Berta Cuyàs, Maria Poca, German Soriano, Shiv K Sarin, Rakhi Maiwall, Prasun K Jalal, Fátima Higuera-De-La-Tijera, Anand V Kulkarni, P Nagaraja Rao, Patricia Guerra-Salazar, Lubomir Skladaný, Natália Kubánek, Veronica Prado, Ana Clemente-Sanchez, Diego Rincon, Tehseen Haider, Kristina R Chacko, Gustavo A Romero, Florencia D Pollarsky, Juan C Restrepo, Luis G Toro, Pamela Yaquich, Manuel Mendizabal, Maria L Garrido, Sebastián Marciano, Melisa Dirchwolf, Victor Vargas, César Jiménez, David Hudson, Guadalupe García-Tsao, Guillermo Ortiz, Juan G Abraldes, Patrick S Kamath, Marco Arrese, Vijay H Shah, Ramon Bataller, Juan Pablo Arab
Faculty, Staff and Students Publications
Background and aims: Alcohol-associated hepatitis (AH) poses significant short-term mortality. Existing prognostic models lack precision for 90-day mortality. Utilizing artificial intelligence in a global cohort, we sought to derive and validate an enhanced prognostic model.
Approach and results: The Global AlcHep initiative, a retrospective study across 23 centers in 12 countries, enrolled patients with AH per National Institute for Alcohol Abuse and Alcoholism criteria. Centers were partitioned into derivation (11 centers, 860 patients) and validation cohorts (12 centers, 859 patients). Focusing on 30 and 90-day postadmission mortality, 3 artificial intelligence algorithms (Random Forest, Gradient Boosting Machines, and eXtreme Gradient Boosting) …
Identifying High-Risk Multiple Myeloma Patients: A Novel Approach Using A Clonal Gene Signature, Jian-Rong Li, Christiana Wang, Chao Cheng
Identifying High-Risk Multiple Myeloma Patients: A Novel Approach Using A Clonal Gene Signature, Jian-Rong Li, Christiana Wang, Chao Cheng
Faculty, Staff and Students Publications
Multiple myeloma (MM) is a heterogeneous disease with a small subset of high-risk patients having poor prognoses. Identifying these patients is crucial for treatment management and strategic decisions. In this study, we developed a novel computational framework to define prognostic gene signatures by selecting genes with expression driven by clonal copy number alterations. We applied this framework to MM and developed a clonal gene signature (CGS) consisting of 22 genes and evaluated in five independent datasets. The CGS provided significant prognostic values after adjusting for well-established factors including cytogenetic abnormalities, International Staging System (ISS), and Revised ISS (R-ISS). Importantly, CGS …
Diagnostic Excellence In The Context Of Climate Change: A Review, Kisha J Ali, Sara Ehsan, Alberta Tran, Monika Haugstetter, Hardeep Singh
Diagnostic Excellence In The Context Of Climate Change: A Review, Kisha J Ali, Sara Ehsan, Alberta Tran, Monika Haugstetter, Hardeep Singh
Faculty, Staff and Students Publications
Climate change is leading to a rise in heat-related illnesses, vector-borne diseases, and numerous negative impacts on patients' physical and mental health outcomes. Concurrently, healthcare contributes about 4.6% of global greenhouse gas emissions. Low-value care, such as overtesting and overdiagnosis, contributes to unnecessary emissions. In this review, we describe diagnostic excellence in the context of climate change and focus on two topics. First, climate change is affecting health, leading to the emergence of certain diseases, some of which are new, while others are increasing in prevalence and/or becoming more widespread. These conditions will require timely and accurate diagnosis by clinicians …
Covid-19 Breakthrough Infection After Vaccination And Substance Use Disorders: A Longitudinal Cohort Of People With And Without Hiv Receiving Care In The United States Veterans Health Administration, Elena M Soyer, Kathleen A Mcginnis, Amy C Justice, Evelyn Hsieh, Maria C Rodriguez-Barradas, Emily C Williams, Lesley S Park
Covid-19 Breakthrough Infection After Vaccination And Substance Use Disorders: A Longitudinal Cohort Of People With And Without Hiv Receiving Care In The United States Veterans Health Administration, Elena M Soyer, Kathleen A Mcginnis, Amy C Justice, Evelyn Hsieh, Maria C Rodriguez-Barradas, Emily C Williams, Lesley S Park
Faculty, Staff and Students Publications
Research regarding HIV, substance use disorders (SUD), and SARS-CoV-2 infections after COVID-19 vaccination is limited. In the Veterans Aging Cohort Study (VACS)-HIV cohort, we followed vaccinated persons with HIV (PWH) and without HIV (PWoH) from 12/2020 to 3/2022 and linked SARS-CoV-2 test results for laboratory-confirmed breakthrough infection through 9/2022. We examined associations of substance use (alcohol use disorder [AUD], other SUD, smoking status) and HIV status and severity with breakthrough infections, using Cox proportional hazards regression hazard ratios (HR). To test for potential interactions between substance use and HIV, we fit survival models with a multiplicative interaction term. Among 24,253 …
Considerations For Lifetime Management Of Aortic Stenosis: Transcatheter Aortic Valve Replacement, Surgical Aortic Valve Replacement, And Timing Of Therapy, Rodrigo Petersen Saadi, Ana Paula Tagliari, Syed Zaid, Gilbert H L Tang
Considerations For Lifetime Management Of Aortic Stenosis: Transcatheter Aortic Valve Replacement, Surgical Aortic Valve Replacement, And Timing Of Therapy, Rodrigo Petersen Saadi, Ana Paula Tagliari, Syed Zaid, Gilbert H L Tang
Faculty, Staff and Students Publications
No abstract provided.
Deregulation Of Mitochondrial Gene Expression In Cancer: Mechanisms And Therapeutic Opportunities, Mariah J Berner, Steven W Wall, Gloria V Echeverria
Deregulation Of Mitochondrial Gene Expression In Cancer: Mechanisms And Therapeutic Opportunities, Mariah J Berner, Steven W Wall, Gloria V Echeverria
Faculty, Staff and Students Publications
"Reprogramming of energy metabolism" was first considered an emerging hallmark of cancer in 2011 by Hanahan & Weinberg and is now considered a core hallmark of cancer. Mitochondria are the hubs of metabolism, crucial for energetic functions and cellular homeostasis. The mitochondrion's bacterial origin and preservation of their own genome, which encodes proteins and RNAs essential to their function, make them unique organelles. Successful generation of mitochondrial gene products requires coordinated functioning of the mitochondrial 'central dogma,' encompassing all steps necessary for mtDNA to yield mitochondrial proteins. Each of these processes has several levels of regulation, including mtDNA accessibility and …
Opioid Use In Thoracic Surgery: A Retrospective Study On Postoperative Complications, Jerry Xiao, Duc T Nguyen, Zoe K Lichtenberg, Elsie Rizk, Leonora M Meisenbach, Ray Chihara, Edward A Graviss, Min P Kim
Opioid Use In Thoracic Surgery: A Retrospective Study On Postoperative Complications, Jerry Xiao, Duc T Nguyen, Zoe K Lichtenberg, Elsie Rizk, Leonora M Meisenbach, Ray Chihara, Edward A Graviss, Min P Kim
Faculty, Staff and Students Publications
Background: Opioids are important medications that are used to control postoperative pain. The enhanced recovery after surgery (ERAS) program has reduced opioid use after surgery. In a surgical practice with a robust ERAS program, we wanted to determine if there was a relationship between in-hospital opioid use and postoperative complications.
Methods: We performed a retrospective nested case-control study of patients who underwent thoracic surgical intervention at the Houston Methodist Hospital (HMH) between 11/2020 and 11/2021 from the thoracic surgery database with hospital morphine milligram equivalent (MME) information, comparing patients who did and did not experience postoperative complications. We determined the …
Takotsubo Syndrome: An International Expert Consensus Report On Practical Challenges And Specific Conditions (Part-2: Specific Entities, Risk Stratification And Challenges After Recovery), Kenan Yalta, John E Madias, Nicholas G Kounis, Shams Y-Hassan, Marija Polovina, Servet Altay, Alexandre Mebazaa, Mehmet Birhan Yilmaz, Yuri Lopatin, Mamas A Mamas, Robert J Gil, Ritu Thamman, Abdallah Almaghraby, Biykem Bozkurt, Gani Bajraktari, Thomas Fink, Vassil Traykov, Stephane Manzo-Silberman, Ulvi Mirzoyev, Sekib Sokolovic, Zviad V Kipiani, Cecilia Linde, Petar M Seferovic
Takotsubo Syndrome: An International Expert Consensus Report On Practical Challenges And Specific Conditions (Part-2: Specific Entities, Risk Stratification And Challenges After Recovery), Kenan Yalta, John E Madias, Nicholas G Kounis, Shams Y-Hassan, Marija Polovina, Servet Altay, Alexandre Mebazaa, Mehmet Birhan Yilmaz, Yuri Lopatin, Mamas A Mamas, Robert J Gil, Ritu Thamman, Abdallah Almaghraby, Biykem Bozkurt, Gani Bajraktari, Thomas Fink, Vassil Traykov, Stephane Manzo-Silberman, Ulvi Mirzoyev, Sekib Sokolovic, Zviad V Kipiani, Cecilia Linde, Petar M Seferovic
Faculty, Staff and Students Publications
Takotsubo syndrome (TTS) still remains as an enigmatic phenomenon. In particular, long-term challenges (including clinical recurrence and persistent symptoms) and specific entities in the setting of TTS have been the evolving areas of interest. On the other hand, a significant gap still exists regarding the proper risk-stratification of this phenomenon in the short and long terms. The present paper, the second part (part-2) of the consensus report, aims to discuss less well-known aspects of TTS including specific entities, challenges after recovery and risk-stratification.
Ten-Year Outcomes After Bariatric Surgery In Adolescents, Justin R Ryder, Todd M Jenkins, Changchun Xie, Anita P Courcoulas, Carroll M Harmon, Michael A Helmrath, Stephanie Sisley, Marc P Michalsky, Mary Brandt, Thomas H Inge
Ten-Year Outcomes After Bariatric Surgery In Adolescents, Justin R Ryder, Todd M Jenkins, Changchun Xie, Anita P Courcoulas, Carroll M Harmon, Michael A Helmrath, Stephanie Sisley, Marc P Michalsky, Mary Brandt, Thomas H Inge
Faculty, Staff and Students Publications
No abstract provided.
Takotsubo Syndrome: An International Expert Consensus Report On Practical Challenges And Specific Conditions (Part-1: Diagnostic And Therapeutic Challenges), Kenan Yalta, John E Madias, Nicholas G Kounis, Shams Y-Hassan, Marija Polovina, Servet Altay, Alexandre Mebazaa, Mehmet Birhan Yilmaz, Yuri Lopatin, Mamas A Mamas, Robert J Gil, Ritu Thamman, Abdallah Almaghraby, Biykem Bozkurt, Gani Bajraktari, Thomas Fink, Vassil Traykov, Stephane Manzo-Silberman, Ulvi Mirzoyev, Sekib Sokolovic, Zviad V Kipiani, Cecilia Linde, Petar M Seferovic
Takotsubo Syndrome: An International Expert Consensus Report On Practical Challenges And Specific Conditions (Part-1: Diagnostic And Therapeutic Challenges), Kenan Yalta, John E Madias, Nicholas G Kounis, Shams Y-Hassan, Marija Polovina, Servet Altay, Alexandre Mebazaa, Mehmet Birhan Yilmaz, Yuri Lopatin, Mamas A Mamas, Robert J Gil, Ritu Thamman, Abdallah Almaghraby, Biykem Bozkurt, Gani Bajraktari, Thomas Fink, Vassil Traykov, Stephane Manzo-Silberman, Ulvi Mirzoyev, Sekib Sokolovic, Zviad V Kipiani, Cecilia Linde, Petar M Seferovic
Faculty, Staff and Students Publications
In the recent years, there has been a burgeoning interest in Takotsubo syndrome (TTS), which is renowned as a specific form of reversible myocardial dysfunction. Despite the extensive literature available on TTS, clinicians still face several practical challenges associated with the diagnosis and management of this phenomenon. This potentially results in the underdiagnosis and improper management of TTS in clinical practice. The present paper, the first part (part-1) of the consensus report, aims to cover diagnostic and therapeutic challenges associated with TTS along with certain recommendations to combat these challenges.
Sociodemographic, Lifestyle, And Medical Factors Associated With Calculated Free Testosterone Concentrations In Men: Individual Participant Data Meta-Analyses, Nick Narinx, Ross J Marriott, Kevin Murray, Robert J Adams, Christie M Ballantyne, Douglas C Bauer, Shalender Bhasin, Mary L Biggs, Peggy M Cawthon, David J Couper, Adrian S Dobs, Leon Flicker, Graeme J Hankey, Anke Hannemann, Robin Wilkening, Sean A Martin, Alvin M Matsumoto, Claes Ohlsson, Terence W O'Neill, Eric S Orwoll, Molly M Shores, Antje Steveling, Thomas G Travison, Gary A Wittert, Frederick C W Wu, Leen Antonio, Dirk Vanderschueren, Bu B Yeap
Sociodemographic, Lifestyle, And Medical Factors Associated With Calculated Free Testosterone Concentrations In Men: Individual Participant Data Meta-Analyses, Nick Narinx, Ross J Marriott, Kevin Murray, Robert J Adams, Christie M Ballantyne, Douglas C Bauer, Shalender Bhasin, Mary L Biggs, Peggy M Cawthon, David J Couper, Adrian S Dobs, Leon Flicker, Graeme J Hankey, Anke Hannemann, Robin Wilkening, Sean A Martin, Alvin M Matsumoto, Claes Ohlsson, Terence W O'Neill, Eric S Orwoll, Molly M Shores, Antje Steveling, Thomas G Travison, Gary A Wittert, Frederick C W Wu, Leen Antonio, Dirk Vanderschueren, Bu B Yeap
Faculty, Staff and Students Publications
Objective: Sociodemographic, lifestyle, and medical variables influence total testosterone (T) and sex hormone-binding globulin (SHBG) concentrations. The relationship between these factors and "free" T remains unclear. We examined 21 sociodemographic, lifestyle, and medical predictors influencing calculated free T (cFT) in community-dwelling men across ages.
Design: This is a cross-sectional analysis in 20 631 participants in the Androgens in Men Study.
Methods: Individual participant data (IPD) were provided by 9 cohorts. Total T was determined using mass spectrometry, SHBG using immunoassays, and cFT using the Vermeulen formula. Associations were analyzed using 2-stage random effects IPD meta-analyses.
Results: Cohort median ages ranged …