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JOURNAL ARTICLE
Justin E Vranic, Pablo Harker, Christopher J Stapleton, Robert W Regenhardt, Adam A Dmytriw, Omer M Doron, Naif M Alotaibi, Thabele M Leslie-Mazwi, Rajiv Gupta, Inka K Berglar, Can Ozan Tan, Matthew J Koch, Scott B Raymond, Justin R Mascitelli, T Tyler Patterson, Joshua Seinfeld, Andrew White, David Case, Christopher Roark, Chirag D Gandhi, Fawaz Al-Mufti, Jared Cooper, Charles Matouk, Nanthiya Sujijantarat, Diego A Devia, Maria I Ocampo-Navia, Daniel E Villamizar-Torres, Juan C Puentes, Aman B Patel
OBJECTIVE: Endoluminal flow diversion reduces blood flow into intracranial aneurysms, promoting thrombosis. Postprocedural dual antiplatelet therapy (DAPT) is necessary for the prevention of thromboembolic complications. The purpose of this study is to therefore assess the impact that the type and duration of DAPT has on aneurysm occlusion rates and iatrogenic complications after flow diversion. METHODS: A retrospective review of a multicenter aneurysm database was performed from 2012 to 2020 to identify unruptured intracranial aneurysms treated with single device flow diversion and ≥12-month follow-up...
September 2023: Journal of Computer Assisted Tomography
#22
JOURNAL ARTICLE
Pedram Fard, Ming Kei Jake Chung, Hossein Estiri, Chirag J Patel
Robust spatio-temporal delineation of extreme climate events and accurate identification of areas that are impacted by an event is a prerequisite for studying the epidemiology of climate change. In prior research, climate attributes such as temperature and humidity have often been linearly assigned to the population of the study unit from the closest weather station. This could result in inaccurate event delineation and biased assessment of extreme heat exposure. We have developed a spatio-temporal model to dynamically delineate boundaries for Extreme Heat Events (EHE) across space and over time, using a relative measure of Apparent Temperature (AT)...
August 28, 2023: Environmental Research
#23
JOURNAL ARTICLE
Thuong T Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A Mandelstam, Alison E Gardner, Atma M Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M Ryan, Sophie Calvert, Clare L van Eyk, Michael Lardelli, Samuel F Berkovic, Richard J Leventer, Linda J Richards, Ingrid E Scheffer, Jozef Gecz, Mark A Corbett
Aicardi Syndrome (AIC) is a rare neurodevelopmental disorder recognized by the classical triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile epileptic spasms syndrome. The diagnostic criteria of AIC were revised in 2005 to include additional phenotypes that are frequently observed in this patient group. AIC has been traditionally considered as X-linked and male lethal because it almost exclusively affects females. Despite numerous genetic and genomic investigations on AIC, a unifying X-linked cause has not been identified...
July 31, 2023: Genes
#24
JOURNAL ARTICLE
Urvi Budhbhatti, Chaitanya Joshi, Ajay Chauhan, Deeptiben Bhatt, Chirag Parmar, Vishalbhai Damani, Amrutlal Patel
BACKGROUND: Alzheimer's Disease (AD) is the most common form of dementia, affecting cognitive and behavioral functions. AD is a complex disease resulting from the modest effect of gene interaction and environmental factors, as a result of which the exact pathogenesis is still unknown. AIM: The aim of the present study was to investigate the association between variants of 98 targeted genes with Alzheimer's disease phenotype. METHOD: A total of 98 genes from 32 AD cases and 11 controls were genotyped using the Haloplex target enrichment method and the PCR-RFLP approach...
August 4, 2023: Neuroscience Letters
#25
JOURNAL ARTICLE
Garret Choby, Mathew Geltzeiler, Joao Paulo Almeida, Pierre-Olivier Champagne, Erik Chan, Jeremy Ciporen, Mark B Chaskes, Juan Fernandez-Miranda, Paul Gardner, Peter Hwang, Keven Seung Yong Ji, Aristotelis Kalyvas, Keonho A Kong, Ryan McMillan, Jayakar Nayak, Jamie O'Byrne, Chirag Patel, Zara Patel, Maria Peris Celda, Carlos Pinheiro-Neto, Olabisi Sanusi, Carl Snyderman, Brian D Thorp, Jamie J Van Gompel, Sarah C Young, Georgios Zenonos, Nathan T Zwagerman, Eric W Wang
IMPORTANCE: Current olfactory neuroblastoma (ONB) staging systems inadequately delineate locally advanced tumors, do not incorporate tumor grade, and poorly estimate survival and recurrence. OBJECTIVE: The primary aims of this study were to (1) examine the clinical covariates associated with survival and recurrence of ONB in a modern-era multicenter cohort and (2) incorporate Hyams tumor grade into existing staging systems to assess its ability to estimate survival and recurrence...
September 1, 2023: JAMA Otolaryngology—Head & Neck Surgery
#26
JOURNAL ARTICLE
Justin E Vranic, Pablo Harker, Christopher J Stapleton, Robert W Regenhardt, Adam A Dmytriw, Omer M Doron, Naif M Alotaibi, Thabele M Leslie-Mazwi, Rajiv Gupta, Inka K Berglar, Can Ozan Tan, Matthew J Koch, Scott B Raymond, Justin R Mascitelli, T Tyler Patterson, Joshua Seinfeld, Andrew White, David Case, Christopher Roark, Chirag D Gandhi, Fawaz Al-Mufti, Jared Cooper, Charles Matouk, Nanthiya Sujijantarat, Diego A Devia, Maria I Ocampo-Navia, Daniel E Villamizar-Torres, Juan C Puentes, Aman B Patel
OBJECTIVE: Endoluminal flow diversion reduces blood flow into intracranial aneurysms, promoting thrombosis. Postprocedural dual antiplatelet therapy (DAPT) is necessary for the prevention of thromboembolic complications. The purpose of this study is to therefore assess the impact that the type and duration of DAPT has on aneurysm occlusion rates and iatrogenic complications after flow diversion. METHODS: A retrospective review of a multicenter aneurysm database was performed from 2012 to 2020 to identify unruptured intracranial aneurysms treated with single device flow diversion and ≥12-month follow-up...
August 3, 2023: Journal of Computer Assisted Tomography
#27
JOURNAL ARTICLE
You Wu, Kushani Jayasinghe, Zornitza Stark, Catherine Quinlan, Chirag Patel, Hugh McCarthy, Amali C Mallawaarachchi, Peter G Kerr, Stephen Alexander, Andrew J Mallett, Ilias Goranitis
PURPOSE: To assess the relative cost-effectiveness of genomic testing compared with standard non-genomic diagnostic investigations in patients with suspected monogenic kidney disease from an Australian healthcare system perspective. METHODS: Diagnostic and clinical information was used from a national cohort of 349 participants. Simulation modelling captured diagnostic, health, and economic outcomes during a time-horizon from clinical presentation until 3 months post-test results based on the outcome of cost per additional diagnosis and lifetime horizon based on cost per quality-adjusted life-year (QALY) gained...
July 21, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#28
JOURNAL ARTICLE
Yvonne Hort, Patricia Sullivan, Laura Wedd, Lindsay Fowles, Igor Stevanovski, Ira Deveson, Cas Simons, Andrew Mallett, Chirag Patel, Timothy Furlong, Mark J Cowley, John Shine, Amali Mallawaarachchi
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10% of patients remain undiagnosed after standard genetic testing. We aimed to utilise short and long-read genome sequencing and RNA studies to investigate undiagnosed families. Patients with typical ADPKD phenotype and undiagnosed after genetic diagnostics were recruited. Probands underwent short-read genome sequencing, PKD1 and PKD2 coding and non-coding analyses and then genome-wide analysis...
July 7, 2023: NPJ Genomic Medicine
#29
Ming Kei Chung, Mariaelena Caboni, Philip Strandwitz, Anthony D'Onofrio, Kim Lewis, Chirag J Patel
No abstract text is available yet for this article.
July 2023: EBioMedicine
#30
JOURNAL ARTICLE
Edward W Gregg, Elisabetta Patorno, Andrew J Karter, Roopa Mehta, Elbert S Huang, Martin White, Chirag J Patel, Allison T McElvaine, William T Cefalu, Joseph Selby, Matthew C Riddle, Kamlesh Khunti
The past decade of population research for diabetes has seen a dramatic proliferation of the use of real-world data (RWD) and real-world evidence (RWE) generation from non-research settings, including both health and non-health sources, to influence decisions related to optimal diabetes care. A common attribute of these new data is that they were not collected for research purposes yet have the potential to enrich the information around the characteristics of individuals, risk factors, interventions, and health effects...
July 1, 2023: Diabetes Care
#31
JOURNAL ARTICLE
Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, Sarah A Sandaradura, Meredith Wilson, Jason Pinner, Matthew F Hunter, Christopher P Barnett, Mathew Wallis, Benjamin Kamien, Tiong Y Tan, Mary-Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S Kassahn, Thuong Ha, Song Gao, Peer Arts, Matilda R Jackson, Hamish S Scott, Stefanie Eggers, Simone Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R Brett, Michelle G de Silva, Amanda Springer, Michelle Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J Van Bergen, Tim Sikora, Liana N Semcesen, David A Stroud, Alison G Compton, David R Thorburn, Katrina M Bell, Simon Sadedin, Kathryn N North, John Christodoulou, Zornitza Stark
Critically ill infants and children with rare diseases need equitable access to rapid and accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics program provided whole-genome sequencing to 290 families whose critically ill infants and children were admitted to hospitals throughout Australia with suspected genetic conditions. The average time to result was 2.9 d and diagnostic yield was 47%. We performed additional bioinformatic analyses and transcriptome sequencing in all patients who remained undiagnosed...
July 2023: Nature Medicine
#32
JOURNAL ARTICLE
Dan Xiao, Changxiang Yan, Deling Li, Tianshu Xi, Xianzhi Liu, Dan Zhu, Guodong Huang, Jianguo Xu, Zhengwen He, Anhua Wu, Chiyuan Ma, Jiang Long, Kai Shu, Hongming Ji, Ning Wang, Gang Chen, Jiankai Yang, Hui Ma, Zhiyong Li, Xiaochuan Sun, Yan Qu, Zhixiong Liu, Xiaofan Jiang, Chunlei Tian, Shilei Ni, Renya Zhan, Liwen Chen, Ming Ge, Maode Wang, Xiaobing Jiang, Geng Guo, Zhenmin Han, Chuan Zhang, Tingrong Zhang, Changwu Dou, Liangzhao Chu, Pengcheng Wang, Junfei Shao, Xiyue Wu, Ju Yu, Yu Wang, Nan Wu, Rui Zhang, Mingming Zhang, Yong Hong, Jianzhong Gao, Yunqian Li, Yawen Pan, Bing Zhao, Nan Ji, Guangliang Shan, Chirag B Patel, Wang Jia, Liwei Zhang
BACKGROUND: The lack of a well-designed brain tumour registry with standardized pathological diagnoses in underdeveloped countries hinders the ability to compare epidemiologic data across the globe. The National Brain Tumour Registry of China (NBTRC), created in January 2018, is the first multi-hospital-based brain tumour registry in China. Patient data reported to the NBTRC in years 2019-2020 were assessed. METHODS: Tumour pathology was based on the 2016 World Health Organization (WHO) classification of tumours of the central nervous system and ICD-O-3...
May 2023: The Lancet Regional Health. Western Pacific
#33
JOURNAL ARTICLE
Niels Vos, Jack Reilly, Mariet W Elting, Philippe M Campeau, David Coman, Zornitza Stark, Tiong Yang Tan, David J Amor, Simran Kaur, Miya StJohn, Angela T Morgan, Benjamin A Kamien, Chirag Patel, Matthew L Tedder, Giuseppe Merla, Paolo Prontera, Marco Castori, Kai Muru, Felicity Collins, John Christodoulou, Janine Smith, Bruria Ben Zeev, Alessandra Murgia, Emanuela Leonardi, Natacha Esber, Antonio Martinez-Monseny, Didac Casas-Alba, Matthew Wallis, Marcel Mannens, Michael A Levy, Raissa Relator, Marielle Alders, Bekim Sadikovic
Accurate diagnosis for patients living with neurodevelopmental disorders is often met with numerous challenges, related to the ambiguity of findings and lack of specificity in genetic variants leading to pathology. Genome-wide DNA methylation analysis has been used to develop highly sensitive and specific 'episignatures' as biomarkers capable of differentiating and classifying complex neurodevelopmental disorders. In this study we describe distinct episignatures for KAT6A syndrome, caused by pathogenic variants in the lysine acetyltransferase A gene ( KAT6A ), and for the two neurodevelopmental disorders associated with lysine acetyl transferase B ( KAT6B )...
May 30, 2023: Epigenomics
#34
JOURNAL ARTICLE
Hossein Estiri, Alaleh Azhir, Deborah L Blacker, Christine S Ritchie, Chirag J Patel, Shawn N Murphy
BACKGROUND: Alzheimer's Disease (AD) is a complex clinical phenotype with unprecedented social and economic tolls on an ageing global population. Real-world data (RWD) from electronic health records (EHRs) offer opportunities to accelerate precision drug development and scale epidemiological research on AD. A precise characterization of AD cohorts is needed to address the noise abundant in RWD. METHODS: We conducted a retrospective cohort study to develop and test computational models for AD cohort identification using clinical data from 8 Massachusetts healthcare systems...
May 27, 2023: EBioMedicine
#35
JOURNAL ARTICLE
Cathrine Axfors, Chirag J Patel, John P A Ioannidis
OBJECTIVE: To assess how the results of published national registry-based pharmacoepidemiology studies (where select associations are of interest) compare with an agnostic medication-wide approach (where all possible drug associations are tested). STUDY DESIGN AND SETTING: We systematically searched for publications that reported drug associations with any, breast, colon/colorectal, or prostate cancer in the Swedish Prescribed Drug Registry. Results were compared against a previously performed agnostic medication-wide study on the same registry...
May 22, 2023: Journal of Clinical Epidemiology
#36
JOURNAL ARTICLE
Kyungho Lee, Elizabeth A Thompson, Sepideh Gharaie, Chirag H Patel, Johanna T Kurzhagen, Phillip M Pierorazio, Lois J Arend, Ajit G Thomas, Sanjeev Noel, Barbara S Slusher, Hamid Rabb
T cells play an important role in acute kidney injury (AKI). Metabolic programming of T cells regulates their function, is a rapidly emerging field, and is unknown in AKI. We induced ischemic AKI in C57B6 mice and collected kidneys and spleens at multiple time points. T cells were isolated and analyzed by an immune-metabolic assay. Unbiased machine learning analyses identified a distinct T cell subset with reduced VDAC1 and mTOR expression in post-AKI kidneys. Ischemic kidneys showed higher expression of trimethylation of histone H3 lysine 27 (H3K27Me3) and glutaminase...
May 11, 2023: JCI Insight
#37
JOURNAL ARTICLE
Bryan Andrews, Chirayu Wongchokprasitti, Shyam Visweswaran, Chirag M Lakhani, Chirag J Patel, Gregory F Cooper
In this paper we investigate which airborne pollutants have a short-term causal effect on cardiovascular and respiratory disease using the Ancestral Probabilities (AP) procedure, a novel Bayesian approach for deriving the probabilities of causal relationships from observational data. The results are largely consistent with EPA assessments of causality, however, in a few cases AP suggests that some pollutants thought to cause cardiovascular or respiratory disease are associated due purely to confounding. The AP procedure utilizes maximal ancestral graph (MAG) models to represent and assign probabilities to causal relationships while accounting for latent confounding...
May 2023: Artificial Intelligence in Medicine
#38
JOURNAL ARTICLE
Christopher James, Kayeromi Gomez, Shalin Desai, Hiten D Patel, Goran Rac, Chirag P Doshi, Ryan Dornbier, Petar Bajic, Thomas Halverson, Gopal N Gupta, Marcus L Quek, Alex Gorbonos, Robert Flanigan, Alan J Wolfe
INTRODUCTION: Intravesical therapy (IVT), including Bacillus Calmette-Guérin (BCG), is the standard of care for high grade (HG) non-muscle invasive bladder cancer (NMIBC). Despite the use of IVT, many patients recur after treatment. The bladder microbiome and its role in disease processes has recently risen to prominence. We aim to characterize changes that occur in the bladder microbiome over the course of intravesical therapy and assess whether these changes correlate with outcomes in patients with NMIBC...
2023: Frontiers in Cellular and Infection Microbiology
#39
Yixuan He, David C Qian, James A Diao, Michael H Cho, Edwin K Silverman, Alexander Gusev, Arjun K Manrai, Alicia R Martin, Chirag J Patel
Smoking is the leading risk factor for chronic obstructive pulmonary disease (COPD) worldwide, yet many people who never smoke develop COPD. We hypothesize that considering other socioeconomic and environmental factors can better predict and stratify the risk of COPD in both non-smokers and smokers. We performed longitudinal analysis of COPD in the UK Biobank to develop the Socioeconomic and Environmental Risk Score (SERS) which captures additive and cumulative environmental, behavioral, and socioeconomic exposure risks beyond tobacco smoking...
April 5, 2023: medRxiv
#40
JOURNAL ARTICLE
Samuel Zimmerman, Braden T Tierney, Chirag J Patel, Aleksandar D Kostic
Measuring microbial diversity is traditionally based on microbe taxonomy. Here, in contrast, we aimed to quantify heterogeneity in microbial gene content across 14,183 metagenomic samples spanning 17 ecologies, including 6 human associated, 7 nonhuman host associated, and 4 in other nonhuman host environments. In total, we identified 117,629,181 nonredundant genes. The vast majority of genes (66%) occurred in only one sample (i.e., "singletons"). In contrast, we found 1,864 sequences present in every metagenome, but not necessarily every bacterial genome...
April 6, 2023: MSystems
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