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Articles 1381 - 1410 of 5928
Full-Text Articles in Medical Specialties
Disentangling Accelerated Cognitive Decline From The Normal Aging Process And Unraveling Its Genetic Components: A Neuroimaging-Based Deep Learning Approach, Yulin Dai, Yu-Chun Hsu, Brisa S Fernandes, Kai Zhang, Xiaoyang Li, Nitesh Enduru, Andi Liu, Astrid M Manuel, Xiaoqian Jiang, Zhongming Zhao, Alzheimer’S Disease Neuroimaging Initiative
Disentangling Accelerated Cognitive Decline From The Normal Aging Process And Unraveling Its Genetic Components: A Neuroimaging-Based Deep Learning Approach, Yulin Dai, Yu-Chun Hsu, Brisa S Fernandes, Kai Zhang, Xiaoyang Li, Nitesh Enduru, Andi Liu, Astrid M Manuel, Xiaoqian Jiang, Zhongming Zhao, Alzheimer’S Disease Neuroimaging Initiative
Faculty, Staff and Student Publications
BACKGROUND: The progressive cognitive decline, an integral component of Alzheimer's disease (AD), unfolds in tandem with the natural aging process. Neuroimaging features have demonstrated the capacity to distinguish cognitive decline changes stemming from typical brain aging and AD between different chronological points.
OBJECTIVE: To disentangle the normal aging effect from the AD-related accelerated cognitive decline and unravel its genetic components using a neuroimaging-based deep learning approach.
METHODS: We developed a deep-learning framework based on a dual-loss Siamese ResNet network to extract fine-grained information from the longitudinal structural magnetic resonance imaging (MRI) data from the Alzheimer's Disease Neuroimaging Initiative (ADNI) study. …
Vagus Nerve Stimulation For The Therapy Of Dravet Syndrome: A Systematic Review And Meta-Analysis, Shuang Chen, Man Li, Ming Huang
Vagus Nerve Stimulation For The Therapy Of Dravet Syndrome: A Systematic Review And Meta-Analysis, Shuang Chen, Man Li, Ming Huang
Faculty, Staff and Student Publications
OBJECTIVE: Dravet syndrome (DS) is a refractory developmental and epileptic encephalopathy characterized by seizures, developmental delay and cognitive impairment with a variety of comorbidities, including autism-like behavior, speech dysfunction, and ataxia. Vagus nerve stimulation (VNS) is one of the common therapies for DS. Here, we aim to perform a meta-analysis and systematic review of the efficacy of VNS in DS patients.
METHODS: We systematically searched four databases (PubMed, Embase, Cochrane and CNKI) to identify potentially eligible studies from their inception to January 2024. These studies provided the effective rate of VNS in treating patients with DS. The proportions of DS …
Management Of Anhedonia After Epilepsy Surgery, Gerardo Maria De Araujo Filho, Antonio L Teixeira
Management Of Anhedonia After Epilepsy Surgery, Gerardo Maria De Araujo Filho, Antonio L Teixeira
Faculty, Staff and Student Publications
Anhedonia is clinically defined as difficulty or inability to feel pleasure or to be motivated to perform activities that were previously pleasurable. Anhedonia is a core feature of depressive disorders but can be present in other conditions such as substance use and anxiety disorders. Herein we report the case of a 34-year-old female who developed marked anhedonia after left cortico-amygdalohippocampectomy. Despite optimal seizure control, the person struggled with anhedonia and other depressive symptoms. After ruling out medico-neurologic complications, she was prescribed with a selective serotonin reuptake inhibitor and cognitive-behavioral therapy. Anhedonia can be a challenging neuropsychiatric presentation that requires ruling …
Different Cohort, Disparate Results: Selection Bias Is A Key Factor In Autopsy Cohorts, Kathryn Gauthreaux, Walter A. Kukull, Karin B. Nelson, Charles Mock, Yen-Chi Chen, Kwun C. G. Chan, David W. Fardo, Yuriko Katsumata, Erin L. Abner, Peter T. Nelson
Different Cohort, Disparate Results: Selection Bias Is A Key Factor In Autopsy Cohorts, Kathryn Gauthreaux, Walter A. Kukull, Karin B. Nelson, Charles Mock, Yen-Chi Chen, Kwun C. G. Chan, David W. Fardo, Yuriko Katsumata, Erin L. Abner, Peter T. Nelson
Neurology Faculty Publications
INTRODUCTION: Research-oriented autopsy cohorts provide critical insights into dementia pathobiology. However, different studies sometimes report disparate findings, partially because each study has its own recruitment biases. We hypothesized that a straightforward metric, related to the percentage of research volunteers cognitively normal at recruitment, would predict other inter-cohort differences.
METHODS: The National Alzheimer’s Coordinating Center (NACC) provided data on N = 7178 autopsied participants from 28 individual research centers. Research cohorts were grouped based on the proportion of participants with normal cognition at initial clinical visit.
RESULTS: Cohorts with more participants who were cognitively normal at recruitment contained more individuals who …
Co-Occurrence Of Autism Spectrum Disorder And Attention-Deficit/Hyperactivity Disorder With Idiopathic Hypersomnia: Data From The Hypersomnia Foundation Registry, Sophie Sevan Mikkelsen
Co-Occurrence Of Autism Spectrum Disorder And Attention-Deficit/Hyperactivity Disorder With Idiopathic Hypersomnia: Data From The Hypersomnia Foundation Registry, Sophie Sevan Mikkelsen
Honors Undergraduate Theses
In recent years, hypersomnia patients and researchers alike have increasingly discussed the possibility of heightened comorbidities, or co-occurrences, of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) with the central disorders of hypersomnolence: idiopathic hypersomnia (IH) and narcolepsy (N). While a few scarce studies have investigated a link between ADHD and N, there has been no research on the co-occurrence of these conditions with IH. This study, using data from the Hypersomnia Foundation’s CoRDS Patient Registry, is the first to identify self-reported rates of ASD and ADHD diagnoses by people with idiopathic hypersomnia. Four chi-square tests were conducted to determine …
Cognitive Decline, Aβ Pathology, And Blood–Brain Barrier Function In Aged 5xfad Mice, Geetika Nehra, Sasivimon Promsan, Ruedeemars Yubolphan, Wijitra Chumboatong, Pornpun Vivithanaporn, Bryan J. Maloney, Anusorn Lungkaphin, Bjoern Bauer, Anika M. S. Hartz
Cognitive Decline, Aβ Pathology, And Blood–Brain Barrier Function In Aged 5xfad Mice, Geetika Nehra, Sasivimon Promsan, Ruedeemars Yubolphan, Wijitra Chumboatong, Pornpun Vivithanaporn, Bryan J. Maloney, Anusorn Lungkaphin, Bjoern Bauer, Anika M. S. Hartz
Markey Cancer Center Faculty Publications
Background
Patients with Alzheimer’s disease (AD) develop blood–brain barrier dysfunction to varying degrees. How aging impacts Aβ pathology, blood–brain barrier function, and cognitive decline in AD remains largely unknown. In this study, we used 5xFAD mice to investigate changes in Aβ levels, barrier function, and cognitive decline over time.
Methods
5xFAD and wild-type (WT) mice were aged between 9.5 and 15.5 months and tested for spatial learning and reference memory with the Morris Water Maze (MWM). After behavior testing, mice were implanted with acute cranial windows and intravenously injected with fluorescent-labeled dextrans to assess their in vivo distribution in the …
Oxidative Stress Alters Mitochondrial Homeostasis In Isolated Brain Capillaries, Gopal V. Velmurugan, Hemendra J. Vekaria, Anika M. S. Hartz, Björn Bauer, William Brad Hubbard
Oxidative Stress Alters Mitochondrial Homeostasis In Isolated Brain Capillaries, Gopal V. Velmurugan, Hemendra J. Vekaria, Anika M. S. Hartz, Björn Bauer, William Brad Hubbard
Markey Cancer Center Faculty Publications
Background
Neurovascular deficits and blood-brain barrier (BBB) dysfunction are major hallmarks of brain trauma and neurodegenerative diseases. Oxidative stress is a prominent contributor to neurovascular unit (NVU) dysfunction and can propagate BBB disruption. Oxidative damage results in an imbalance of mitochondrial homeostasis, which can further drive functional impairment of brain capillaries. To this end, we developed a method to track mitochondrial-related changes after oxidative stress in the context of neurovascular pathophysiology as a critical endophenotype of neurodegenerative diseases.
Methods
To study brain capillary-specific mitochondrial function and dynamics in response to oxidative stress, we developed an ex vivo model in which …
A Deadly Case Of Encephalopathy, Brenna Ostertag, Md, Gita D Gelfer, Do, Andrea Roast, Md
A Deadly Case Of Encephalopathy, Brenna Ostertag, Md, Gita D Gelfer, Do, Andrea Roast, Md
Poster Presentations
No abstract provided.
The Differential Expands: Ataxia From Paraneoplastic Cerebellar Degeneration, Dominic Thomas, Md, Amy Dechet, Md
The Differential Expands: Ataxia From Paraneoplastic Cerebellar Degeneration, Dominic Thomas, Md, Amy Dechet, Md
Poster Presentations
No abstract provided.
Early And Late Basilar Artery Thrombectomy Time Window Outcomes., Adam T Mierzwa, Rahul Rao, Sami Al Kasab, Ashley Nelson, Santiago Ortega-Gutierrez, Juan Vivanco-Suarez, Mudassir Farooqui, Ashutosh P Jadhav, Shashvat Desai, Gabor Toth, Anas Alrohimi, Thanh N Nguyen, Piers Klein, Mohamad Abdalkader, Hisham Salahuddin, Aditya Pandey, Zachary Wilseck, Sravanthi Koduri, Nirav Vora, Nameer Aladamat, Khaled Gharaibeh, Ehad Afreen, Syed Zaidi, Mouhammad Jumaa
Early And Late Basilar Artery Thrombectomy Time Window Outcomes., Adam T Mierzwa, Rahul Rao, Sami Al Kasab, Ashley Nelson, Santiago Ortega-Gutierrez, Juan Vivanco-Suarez, Mudassir Farooqui, Ashutosh P Jadhav, Shashvat Desai, Gabor Toth, Anas Alrohimi, Thanh N Nguyen, Piers Klein, Mohamad Abdalkader, Hisham Salahuddin, Aditya Pandey, Zachary Wilseck, Sravanthi Koduri, Nirav Vora, Nameer Aladamat, Khaled Gharaibeh, Ehad Afreen, Syed Zaidi, Mouhammad Jumaa
Neuroscience Articles
IMPORTANCE: Stroke-to-recanalization time is a strong predictor of outcomes in anterior circulation large-vessel occlusion (LVO). The authors aimed to evaluate functional outcomes in early (< 6 >h) vs. late (6-24 h) time windows for thrombectomy-treated basilar artery occlusions.
METHODS: Patients were derived from the Posterior Circulation Ischemic Stroke Evaluation: Analyzing Radiographic and Intra-procedural Predictors of Mechanical Thrombectomy (PC-SEARCH) Registry and retrospectively analyzed early and late basilar artery thrombectomy time windows cohorts. Patients were dichotomized based on the last known well and correlated to 90-day functional outcomes (mRS 0-3). A multiple logistic regression analysis was performed.
RESULTS: A total of 405 patients …
Pathophysiology Of Pain And Mechanisms Of Neuromodulation: A Narrative Review (A Neuron Project)., Marcin Karcz, Alaa Abd-Elsayed, Krishnan Chakravarthy, Mansoor M Aman, Natalie Strand, Mark N Malinowski, Usman Latif, David Dickerson, Tolga Suvar, Timothy Lubenow, Evan Peskin, Ryan D'Souza, Eric Cornidez, Andrew Dudas, Christopher Lam, Michael Farrell Ii, Geum Yeon Sim, Mohamad Sebai, Rosa Garcia, Lucas Bracero, Yussr Ibrahim, Syed Jafar Mahmood, Marco Lawandy, Daniel Jimenez, Leili Shahgholi, Kamil Sochacki, Mohamed Ehab Ramadan, Vinicius Tieppo Francio, Dawood Sayed, Timothy Deer
Pathophysiology Of Pain And Mechanisms Of Neuromodulation: A Narrative Review (A Neuron Project)., Marcin Karcz, Alaa Abd-Elsayed, Krishnan Chakravarthy, Mansoor M Aman, Natalie Strand, Mark N Malinowski, Usman Latif, David Dickerson, Tolga Suvar, Timothy Lubenow, Evan Peskin, Ryan D'Souza, Eric Cornidez, Andrew Dudas, Christopher Lam, Michael Farrell Ii, Geum Yeon Sim, Mohamad Sebai, Rosa Garcia, Lucas Bracero, Yussr Ibrahim, Syed Jafar Mahmood, Marco Lawandy, Daniel Jimenez, Leili Shahgholi, Kamil Sochacki, Mohamed Ehab Ramadan, Vinicius Tieppo Francio, Dawood Sayed, Timothy Deer
Neuroscience Articles
Pain serves as a vital innate defense mechanism that can significantly impact an individual's quality of life. Understanding the physiological effects of pain well plays an important role in developing novel pain treatments. Nociceptor neurons play a key role in pain and inflammation. Interactions between nociceptors and the immune system occur both at the site of injury and within the central nervous system. Modulating chemical mediators and nociceptor activity offers promising new approaches to pain management. Essentially, the sensory nervous system is essential for modulating the body's protective response, making it critical to understand these interactions to discover new pain …
Thalamic Atrophy And Dysconnectivity Are Associated With Cognitive Impairment In A Multi-Center, Clinical Routine, Real-Word Study Of People With Relapsing-Remitting Multiple Sclerosis., Robert Zivadinov, Niels Bergsland, Dejan Jakimovski, Bianca Weinstock-Guttman, Lorena Lorefice, Menno M Schoonheim, Sarah A Morrow, Mary Ann Picone, Gabriel Pardo, Myassar Zarif, Mark Gudesblatt, Jacqueline A Nicholas, Andrew Smith, Samuel Hunter, Stephen Newman, Mahmoud A Abdelrazek, Ina Hoti, Jon Riolo, Diego Silva, Tom A Fuchs, Michael G Dwyer, Ralph Hb Benedict
Thalamic Atrophy And Dysconnectivity Are Associated With Cognitive Impairment In A Multi-Center, Clinical Routine, Real-Word Study Of People With Relapsing-Remitting Multiple Sclerosis., Robert Zivadinov, Niels Bergsland, Dejan Jakimovski, Bianca Weinstock-Guttman, Lorena Lorefice, Menno M Schoonheim, Sarah A Morrow, Mary Ann Picone, Gabriel Pardo, Myassar Zarif, Mark Gudesblatt, Jacqueline A Nicholas, Andrew Smith, Samuel Hunter, Stephen Newman, Mahmoud A Abdelrazek, Ina Hoti, Jon Riolo, Diego Silva, Tom A Fuchs, Michael G Dwyer, Ralph Hb Benedict
Neuroscience Articles
BACKGROUND: Prior research has established a link between thalamic pathology and cognitive impairment (CI) in people with multiple sclerosis (pwMS). However, the translation of these findings to pwMS in everyday clinical settings has been insufficient.
OBJECTIVE: To assess which global and/or thalamic imaging biomarkers can be used to identify pwMS at risk for CI and cognitive worsening (CW) in a real-world setting.
METHODS: This was an international, multi-center (11 centers), longitudinal, retrospective, real-word study of people with relapsing-remitting MS (pwRRMS). Brain MRI exams acquired at baseline and follow-up were collected. Cognitive status was evaluated using the Symbol Digit Modalities Test …
A Systematic Guideline By The Aspn Workgroup On The Evidence, Education, And Treatment Algorithm For Painful Diabetic Neuropathy: Sweet., Dawood Sayed, Timothy Ray Deer, Jonathan M Hagedorn, Asim Sayed, Ryan S D'Souza, Christopher M Lam, Nasir Khatri, Zohra Hussaini, Scott G Pritzlaff, Newaj Mohammad Abdullah, Vinicius Tieppo Francio, Steven Michael Falowski, Yussr M Ibrahim, Mark N Malinowski, Ryan R Budwany, Natalie Holmes Strand, Kamil M Sochacki, Anuj Shah, Tyler M Dunn, Morad Nasseri, David W Lee, Leonardo Kapural, Marshall David Bedder, Erika A Petersen, Kasra Amirdelfan, Michael E Schatman, Jay Samuel Grider
A Systematic Guideline By The Aspn Workgroup On The Evidence, Education, And Treatment Algorithm For Painful Diabetic Neuropathy: Sweet., Dawood Sayed, Timothy Ray Deer, Jonathan M Hagedorn, Asim Sayed, Ryan S D'Souza, Christopher M Lam, Nasir Khatri, Zohra Hussaini, Scott G Pritzlaff, Newaj Mohammad Abdullah, Vinicius Tieppo Francio, Steven Michael Falowski, Yussr M Ibrahim, Mark N Malinowski, Ryan R Budwany, Natalie Holmes Strand, Kamil M Sochacki, Anuj Shah, Tyler M Dunn, Morad Nasseri, David W Lee, Leonardo Kapural, Marshall David Bedder, Erika A Petersen, Kasra Amirdelfan, Michael E Schatman, Jay Samuel Grider
Neuroscience Articles
INTRODUCTION: Painful diabetic neuropathy (PDN) is a leading cause of pain and disability globally with a lack of consensus on the appropriate treatment of those suffering from this condition. Recent advancements in both pharmacotherapy and interventional approaches have broadened the treatment options for PDN. There exists a need for a comprehensive guideline for the safe and effective treatment of patients suffering from PDN.
OBJECTIVE: The SWEET Guideline was developed to provide clinicians with the most comprehensive guideline for the safe and appropriate treatment of patients suffering from PDN.
METHODS: The American Society of Pain and Neuroscience (ASPN) identified an educational …
Circulating Sphingolipids In Relation To Cognitive Decline And Incident Dementia: The Cardiovascular Health Study, Kristine F Moseholm, Héléne T Cronjé, Manja Koch, Annette L Fitzpatrick, Oscar L Lopez, Marcia C De Oliveira Otto, W T Longstreth, Andrew N Hoofnagle, Kenneth J Mukamal, Rozenn N Lemaitre, Majken K Jensen
Circulating Sphingolipids In Relation To Cognitive Decline And Incident Dementia: The Cardiovascular Health Study, Kristine F Moseholm, Héléne T Cronjé, Manja Koch, Annette L Fitzpatrick, Oscar L Lopez, Marcia C De Oliveira Otto, W T Longstreth, Andrew N Hoofnagle, Kenneth J Mukamal, Rozenn N Lemaitre, Majken K Jensen
Faculty, Staff and Student Publications
INTRODUCTION: Whether circulating levels of sphingolipids are prospectively associated with cognitive decline and dementia risk is uncertain.
METHODS: We measured 14 sphingolipid species in plasma samples from 4488 participants (mean age 76.2 years; 40% male; and 25% apolipoprotein E (
RESULTS: Higher plasma levels of sphingomyelin-d18:1/16:0 (SM-16) were associated with a faster cognitive decline measured with 3MSE, in contrast, higher levels of sphingomyelin-d18:1/22:0 (SM-22) were associated with slower decline in cognition measured with DSST. In Cox regression, higher levels of SM-16 (hazard ration [HR] = 1.24 [95% confidence interval [CI]: 1.08-1.44]) and ceramide-d18:1/16:0 (Cer-16) (HR = 1.26 [95% CI: 1.10-1.45]) …
Higher Baseline Serum Bilirubin Levels Are Associated With Increased Risk Of Early Neurological Deterioration In Women With Acute Ischemic Stroke, Meng Sun, Yingfeng Weng, Jiwei Cheng, Guoyi Li, Qian Xiao
Higher Baseline Serum Bilirubin Levels Are Associated With Increased Risk Of Early Neurological Deterioration In Women With Acute Ischemic Stroke, Meng Sun, Yingfeng Weng, Jiwei Cheng, Guoyi Li, Qian Xiao
Faculty, Staff and Student Publications
BACKGROUND AND OBJECTIVES: Early neurological deterioration (END) occurs in up to one-third of patients with acute ischemic stroke (AIS) and associated with poor outcome. The role of serum bilirubin in END remains controversial. This study aims to investigate the association of total bilirubin (TBIL), direct bilirubin (DBIL) and indirect bilirubin (IBIL) with END.
METHODS: This study was a cross-sectional retrospective study with 344 AIS patients enrolled. We retrospectively reviewed consecutive AIS patients with END through a medical record retrieval system and enrolled patients as control randomly from the AIS patients without END at the same period. The bilirubin levels were …
Frozen By Worry And Fatigue? A Mixed Methods Approach To Understanding The Lived Experiences Of Freezing Of Gait, Sarah M. Ghose
Frozen By Worry And Fatigue? A Mixed Methods Approach To Understanding The Lived Experiences Of Freezing Of Gait, Sarah M. Ghose
Theses and Dissertations
This study utilized a mixed methods emergent, phenomenological approach to (1) understanding the lived experience of freezing of gait for individuals diagnosed with Parkinson’s Disease and (2) determining the role of anxiety and sleep in freezing of gait outcomes. Participants included 13 adults diagnosed with Parkinson’s Disease (N=14 for qualitative data, N=13 for quantitative data; 23.1% female-identifying, 76.9% male-identifying) who were predominantly white (92.3%) with an average age of 69 years (SD = 6.73 years). Data collection consisted of semi-structured interviews, self-report measures, actigraphic sleep data, and salivary alpha amylase biomarker collection. Results are organized into …
Dna Methylation In Aging And Alzheimer's Disease, Raymond Cheng, Jingmin Shu, Hai Chen, Ming Li, Xiaodong Cheng, Li Liu
Dna Methylation In Aging And Alzheimer's Disease, Raymond Cheng, Jingmin Shu, Hai Chen, Ming Li, Xiaodong Cheng, Li Liu
The Brown Foundation: Institute of Molecular Medicine
DNA methylation undergoes significant changes with age. These alterations play a pivotal role in the development of age-related diseases, including Alzheimer's disease (AD). Recent advancements in DNA methylome profiling have revealed global hypomethylation patterns, particularly within repetitive elements, as well as gene-specific changes that are associated with neurodegeneration. Age-related alterations in DNA methylation have been implicated in the disruption of key cellular processes, such as inflammation and proteostasis, both central to AD pathology. However, several challenges persist in this field. One major issue is the inconsistency of findings across different brain regions and tissue types, which complicates result interpretation. Furthermore, …
An Ewas Of Dementia Biomarkers And Their Associations With Age, African Ancestry, And Ptsd, Mark W. Miller, Erika J. Wolf, Xiang Zhao, Mark W. Logue, Sage E. Hawn
An Ewas Of Dementia Biomarkers And Their Associations With Age, African Ancestry, And Ptsd, Mark W. Miller, Erika J. Wolf, Xiang Zhao, Mark W. Logue, Sage E. Hawn
Psychology Faculty Publications
Background
Large-scale cohort and epidemiological studies suggest that PTSD confers risk for dementia in later life but the biological mechanisms underlying this association remain unknown. This study examined this question by assessing the influences of PTSD, APOE ε4 genotypes, DNA methylation, and other variables on the age- and dementia-associated biomarkers Aβ40, Aβ42, GFAP, NfL, and pTau-181 measured in plasma. Our primary hypothesis was that PTSD would be associated with elevated levels of these markers.
Methods
Analyses were based on data from a PTSD-enriched cohort of 849 individuals. We began by performing factor analyses of the biomarkers, the results of which …
Neuroticism Mediates The Association Between Autistic Traits And Choice Reaction Time Among Young Adults, Kassandra De Jesus Cintron, Xiao Yang
Neuroticism Mediates The Association Between Autistic Traits And Choice Reaction Time Among Young Adults, Kassandra De Jesus Cintron, Xiao Yang
Psychology Faculty Publications
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that influences an individual’s cognitive functions and social interaction. While most studies have focused on children and adolescents diagnosed with ASD, elevated levels of autistic traits in subclinical populations may also influence individuals’ daily functioning. Autistic traits are also linked to the Big Five personality. In particular, neuroticism (emotion instability) has been shown to be positively associated with autistic traits, which may contribute to behavioral symptoms of autistic traits. The present study aimed to investigate the association between autistic symptoms and sensorimotor processing among a subclinical population. One hundred young adults (M …
Rragd-Associated Autosomal Dominant Kidney Hypomagnesemia With Cardiomyopathy: A Review On The Clinical Manifestations And Therapeutic Options, Francesco Trepiccione, Irene Sambri, Barbara Ruggiero, Francesco Emma, Andrea Ballabio, Giulia Florio, Ines Vanderheyden, Anna Iervolino, François Jouret
Rragd-Associated Autosomal Dominant Kidney Hypomagnesemia With Cardiomyopathy: A Review On The Clinical Manifestations And Therapeutic Options, Francesco Trepiccione, Irene Sambri, Barbara Ruggiero, Francesco Emma, Andrea Ballabio, Giulia Florio, Ines Vanderheyden, Anna Iervolino, François Jouret
Duncan NRI Faculty and Staff Publications
Background: A hereditary condition primarily affecting the kidneys and heart has newly been identified: the RRAGD-associated autosomal dominant kidney hypomagnesemia with cardiomyopathy (ADKH-RRAGD). This disorder is characterized by renal loss of magnesium and potassium, coupled with varying degrees of cardiac dysfunction. These range from arrhythmias to severe dilated cardiomyopathy, which may require heart transplantation. Mutations associated with RRAGD significantly disrupt the non-canonical branch of the mechanistic target of rapamycin complex 1 pathway. This disruption hinders the nuclear translocation and transcriptional activity of the transcription factor EB a crucial regulator of lysosomal and autophagic function.
Summary: All identified RRAGD variants compromise …
An Objective Assessment Of Neuromotor Control Using A Smartphone App After Repeated Subconcussive Blast Exposure, Charlend K. Howard, Masahiro Yamada, Marcia Dovel, Rie Leverett, Alexander Hill, Kenneth A. Manlapaz, David O. Keyser, Rene S. Hernandez, Sheilah S. Rowe, Walter S. Carr, Michael S. Roy, Christopher K. Rhea
An Objective Assessment Of Neuromotor Control Using A Smartphone App After Repeated Subconcussive Blast Exposure, Charlend K. Howard, Masahiro Yamada, Marcia Dovel, Rie Leverett, Alexander Hill, Kenneth A. Manlapaz, David O. Keyser, Rene S. Hernandez, Sheilah S. Rowe, Walter S. Carr, Michael S. Roy, Christopher K. Rhea
Rehabilitation Sciences Faculty Publications
Subconcussive blast exposure has been shown to alter neurological functioning. However, the extent to which neurological dysfunction persists after blast exposure is unknown. This longitudinal study examined the potential short- and long-term effects of repeated subconcussive blast exposure on neuromotor performance from heavy weapons training in military personnel. A total of 214 participants were assessed; 137 were exposed to repeated subconcussive blasts and 77 were not exposed to blasts (controls). Participants completed a short stepping-in-place task while an Android smartphone app placed on their thigh recorded movement kinematics. We showed acute suppression of neuromotor variability 6 h after subconcussive blast …
Prevalence And Patterns Of Cardiovascular Risk Factors In Young Hypertensive Patients, *Raghu V S R Tanuku Dr., Major Venkata Shree Krishna Dr., Sreedhar Tanuku Dr
Prevalence And Patterns Of Cardiovascular Risk Factors In Young Hypertensive Patients, *Raghu V S R Tanuku Dr., Major Venkata Shree Krishna Dr., Sreedhar Tanuku Dr
Digital Journal of Clinical Medicine
Hypertension ranks among the top ten causes of mortality, with around 4% attributed to hypertensive complications. High salt intake, Type 2 diabetes, smoking, elevated serum lipids, a sedentary lifestyle, a diet heavy in saturated fat, genetic predisposition, as well as stress are among the factors that contribute to hypertension. Hypertension affects about 1 billion people worldwide, with considerable differences between populations and ethnic groups [2]. The Framingham Heart Study indicates that a person's lifetime risk of developing hypertension is 90% if they are normotensive at age 55. According to the NHANES IV (4th National Health and Nutrition Examination Survey), the …
Precision Needle-Punch Tumor Enrichment From Paraffin Blocks Improves The Detection Of Clinically Actionable Genomic Alterations And Biomarkers, Douglas I Lin, Richard S P Huang, Ioannis Ladas, Rachel B Keller, Nimesh R Patel, Sotirios Lakis, Brennan Decker, Tyler Janovitz, Douglas A Mata, Jeffrey S Ross, Jo-Anne Vergilio, Julia A Elvin, Roy S Herbst, Philip C Mack, Jonathan K Killian
Precision Needle-Punch Tumor Enrichment From Paraffin Blocks Improves The Detection Of Clinically Actionable Genomic Alterations And Biomarkers, Douglas I Lin, Richard S P Huang, Ioannis Ladas, Rachel B Keller, Nimesh R Patel, Sotirios Lakis, Brennan Decker, Tyler Janovitz, Douglas A Mata, Jeffrey S Ross, Jo-Anne Vergilio, Julia A Elvin, Roy S Herbst, Philip C Mack, Jonathan K Killian
Faculty, Staff and Student Publications
BACKGROUND: While many molecular assays can detect mutations at low tumor purity and variant allele frequencies, complex biomarkers such as tumor mutational burden (TMB), microsatellite instability (MSI), and genomic loss of heterozygosity (gLOH) require higher tumor purity for accurate measurement. Scalable, quality-controlled, tissue-conserving methods to increase tumor nuclei percentage (TN%) from tumor specimens are needed for complex biomarkers and hence necessary to maximize patient matching to approved therapies or clinical trial enrollment. We evaluated the clinical utility and performance of precision needle-punch enrichment (NPE) compared with traditional razor blade macroenrichment of tumor specimens on molecular testing success.
METHODS: Pathologist-directed NPE …
Assessing Laryngectomy Patient Education On Youtube: Investigating Quality And Reliability, Matthew E Lin, Oluwatobiloba Ayo-Ajibola, Carlos X Castellanos, Jonathan West, Neil Luu, Ian Kim, Niels C Kokot
Assessing Laryngectomy Patient Education On Youtube: Investigating Quality And Reliability, Matthew E Lin, Oluwatobiloba Ayo-Ajibola, Carlos X Castellanos, Jonathan West, Neil Luu, Ian Kim, Niels C Kokot
Faculty, Staff and Student Publications
OBJECTIVE: This study aimed to characterize the quality of laryngectomy-related patient education on YouTube and understand factors impacting video content quality.
STUDY DESIGN: Cross-sectional cohort analysis.
SETTING: Laryngectomy-related videos on YouTube.
METHODS: YouTube was anonymously queried for various laryngectomy procedure search terms. Video quality was evaluated using the validated DISCERN instrument which assesses treatment-related information quality. Descriptive statistics were used to characterize our cohort. Univariate and multivariable linear regression were used to assess factors associated with increased DISCERN score. Significance was set at
RESULTS: Our 78-video cohort exhibited moderate levels of engagement, averaging 13,028.40 views (SD = 24,246.93), 69.79 likes …
High Doses Of Caffeine-Induced Cerebral Infarction Leading To Partial Locked-In Syndrome In A Young Adult: A Novel Association?, Vijay Sinha, Loc Lam, Michael V Nguyen
High Doses Of Caffeine-Induced Cerebral Infarction Leading To Partial Locked-In Syndrome In A Young Adult: A Novel Association?, Vijay Sinha, Loc Lam, Michael V Nguyen
Faculty, Staff and Student Publications
INTRODUCTION: This is a case of a 30-year-old male with no prior medical conditions presented to the emergency department for presumed seizures after ingesting 900 mg of caffeine via pre-workout drinks and pills.
CASE PRESENTATION: The patient was described as having nearly 15 min of generalized seizure activity observed by emergency medical service, requiring midazolam. A head computerized tomography (CT) demonstrated a possible thrombus, and further, CT angiography and CT perfusion confirmed a basilar artery occlusion. He was treated with tissue plasminogen activator and underwent thrombectomy achieving TICI grade 3 in the left posterior cerebral artery and TICI grade 2b …
Corrigendum: High-Definition Transcranial Direct Current Stimulation For Upper Extremity Rehabilitation In Moderate-To-Severe Ischemic Stroke: A Pilot Study, Jordan N Williamson, Shirley A James, Dorothy He, Sheng Li, Evgeny V Sidorov, Yuan Yang
Corrigendum: High-Definition Transcranial Direct Current Stimulation For Upper Extremity Rehabilitation In Moderate-To-Severe Ischemic Stroke: A Pilot Study, Jordan N Williamson, Shirley A James, Dorothy He, Sheng Li, Evgeny V Sidorov, Yuan Yang
Faculty, Staff and Student Publications
No abstract provided.
Optimizing Medication Querying Using Ontology-Driven Approach With Omop: With An Application To A Large-Scale Covid-19 Ehr Dataset, Xiaojin Li, Yan Huang, Licong Cui, Shiqiang Tao, Guo-Qiang Zhang
Optimizing Medication Querying Using Ontology-Driven Approach With Omop: With An Application To A Large-Scale Covid-19 Ehr Dataset, Xiaojin Li, Yan Huang, Licong Cui, Shiqiang Tao, Guo-Qiang Zhang
Faculty, Staff and Student Publications
Efficient querying for medication information in Electronic Health Record (EHR) datasets is crucial for effective patient care and clinical research. To address the complexity and data volume challenges involved in efficient medication information retrieval, we propose an ontology-driven medication query (ODMQ) optimization approach, leveraging the Observational Medical Outcomes Partnership (OMOP) Common Data Model (CDM). Integrating semantic ontology structures from the OMOP CDM can help enhance query accuracy and efficiency by broadening the scope of relevant medication terms like drug names, National Drug Codes, and generics, resulting in more comprehensive query outcomes than traditional methods. ODMQ significantly reduces manual search time …
Prognostic Value Of The 5-Sense Score To Predict Focality Of The Seizure-Onset Zone As Assessed By Stereoelectroencephalography: A Prospective International Multicentre Validation Study, Alexandra Astner-Rohracher, Alyssa Ho, John Archer, Fabrice Bartolomei, Milan Brazdil, Melita Cacic Hribljan, James Castellano, Irena Dolezalova, Martin Ejler Fabricius, Mercedes Garcés-Sanchez, Kahina Hammam, Akio Ikeda, Kristin Ikeda, Philippe Kahane, Giridhar Kalamangalam, Gudrun Kalss, Mays Khweileh, Katsuya Kobayashi, Patrick Kwan, Joshua Andrew Laing, Markus Leitinger, Samden Lhatoo, Julia Makhalova, Aileen Mcgonigal, Iona Mindruta, Mary Margaret Mizera, Andrew Neal, Irina Oane, Prachi Parikh, Piero Perucca, Francesca Pizzo, Rodrigo Rocamora, Philippe Ryvlin, Victoria San Antonio Arce, Stephan Schuele, Andreas Schulze-Bonhage, Ana Suller Marti, Alexandra Urban, Vincente Villanueva, Laura Vilella Bertran, Benjamin Whatley, Sandor Beniczky, Eugen Trinka, Georg Zimmermann, Birgit Frauscher
Prognostic Value Of The 5-Sense Score To Predict Focality Of The Seizure-Onset Zone As Assessed By Stereoelectroencephalography: A Prospective International Multicentre Validation Study, Alexandra Astner-Rohracher, Alyssa Ho, John Archer, Fabrice Bartolomei, Milan Brazdil, Melita Cacic Hribljan, James Castellano, Irena Dolezalova, Martin Ejler Fabricius, Mercedes Garcés-Sanchez, Kahina Hammam, Akio Ikeda, Kristin Ikeda, Philippe Kahane, Giridhar Kalamangalam, Gudrun Kalss, Mays Khweileh, Katsuya Kobayashi, Patrick Kwan, Joshua Andrew Laing, Markus Leitinger, Samden Lhatoo, Julia Makhalova, Aileen Mcgonigal, Iona Mindruta, Mary Margaret Mizera, Andrew Neal, Irina Oane, Prachi Parikh, Piero Perucca, Francesca Pizzo, Rodrigo Rocamora, Philippe Ryvlin, Victoria San Antonio Arce, Stephan Schuele, Andreas Schulze-Bonhage, Ana Suller Marti, Alexandra Urban, Vincente Villanueva, Laura Vilella Bertran, Benjamin Whatley, Sandor Beniczky, Eugen Trinka, Georg Zimmermann, Birgit Frauscher
Faculty, Staff and Student Publications
Introduction: Epilepsy surgery is the only curative treatment for patients with drug-resistant focal epilepsy. Stereoelectroencephalography (SEEG) is the gold standard to delineate the seizure-onset zone (SOZ). However, up to 40% of patients are subsequently not operated as no focal non-eloquent SOZ can be identified. The 5-SENSE Score is a 5-point score to predict whether a focal SOZ is likely to be identified by SEEG. This study aims to validate the 5-SENSE Score, improve score performance by incorporating auxiliary diagnostic methods and evaluate its concordance with expert decisions.
Methods and analysis: Non-interventional, observational, multicentre, prospective study including 200 patients with drug-resistant …
A Web-Based Interface For Visualizing And Documenting Seeg Strategic Planning (Wisp): Development And Qualitative Evaluation, Wei-Chun Chou, Johnson P Hampson, Antarr T Byrd, Samden D Lhatoo, Guo-Qiang Zhang, Shiqiang Tao
A Web-Based Interface For Visualizing And Documenting Seeg Strategic Planning (Wisp): Development And Qualitative Evaluation, Wei-Chun Chou, Johnson P Hampson, Antarr T Byrd, Samden D Lhatoo, Guo-Qiang Zhang, Shiqiang Tao
Faculty, Staff and Student Publications
WISP stands as an efficacious solution to the challenges associated with Stereoelectroencephalography (SEEG) strategic planning, offering lightweight and interactive web interfaces for rendering multiple brain views. These interfaces facilitate collaborative engagement among care team members across various disciplines during patient case conferences and SEEG strategic planning sessions. Moreover, WISP incorporates a collaborative electrode and electrode group library, serving as a standardized repository of knowledge. The application enables seamless conversion of case conference outcomes and SEEG plans into images and PDF files, with transmission to Electronic Health Record (EHR) systems through a customized HL7 engine. The initial assessment findings demonstrate WISP …
Characterizing Treatment Non-Responders And Responders In Completed Alzheimer's Disease Clinical Trials, Dulin Wang, Yaobin Ling, Kristofer Harris, Paul E Schulz, Xiaoqian Jiang, Yejin Kim
Characterizing Treatment Non-Responders And Responders In Completed Alzheimer's Disease Clinical Trials, Dulin Wang, Yaobin Ling, Kristofer Harris, Paul E Schulz, Xiaoqian Jiang, Yejin Kim
Faculty, Staff and Student Publications
Characterizing differential responses to Alzheimer's disease (AD) drugs will provide better insights into personalized treatment strategies. Our study aims to identify heterogeneous treatment effects and pre-treatment features that moderate the treatment effect of Galantamine, Bapineuzumab, and Semagacestat from completed trial data. The causal forest method can capture heterogeneity in treatment responses. We applied causal forest modeling to estimate the treatment effect and identify efficacy moderators in each trial. We found several patient's pretreatment conditions that determined treatment efficacy. For example, in Galantamine trials, whole brain volume (1092.54 vs. 1060.67 ml, P < .001) and right hippocampal volume (2.43e-3 vs. 2.79e-3, P < .001) are significantly different between responsive and non-responsive subgroups. Overall, our implementation of causal forests in AD clinical trials reveals the heterogeneous treatment effects and different moderators for AD drug responses, highlighting promising personalized treatment based on patient-specific characteristics in AD research and drug development.