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Articles 2161 - 2190 of 6955
Full-Text Articles in Medical Specialties
Continuous Glucose Monitoring Metrics For Earlier Identification Of Pre-Diabetes: Protocol For A Systematic Review And Meta-Analysis, Sara Gottfried, Laura Pontiggia, Andrew B. Newberg, Gregory Laynor, Daniel A. Monti
Continuous Glucose Monitoring Metrics For Earlier Identification Of Pre-Diabetes: Protocol For A Systematic Review And Meta-Analysis, Sara Gottfried, Laura Pontiggia, Andrew B. Newberg, Gregory Laynor, Daniel A. Monti
Institute of Emerging Health Professions Faculty Papers
Introduction: Glycaemic variability and other metrics are not well characterised in subjects without diabetes. More comprehensive sampling as obtained with continuous glucose monitoring (CGM) may improve diagnostic accuracy of the transition from health to pre-diabetes. Our goal is to investigate the glycaemic system as it shifts from health to pre-disease in adult patients without diabetes using CGM metrics. New insights may offer therapeutic promise for reversing dysglycaemia more successfully with dietary, nutritional and lifestyle change before progression occurs to pre-diabetes and diabetes.
Methods and analysis: This systematic review will include comprehensive searches of the PubMed, Scopus, Cochrane Library and ClinicalTrials.gov …
Editorial: Progress In Understanding The Immunogenetic Basis Of Disease Susceptibility And Outcomes, Tina Bharani, Divyansh Agarwal
Editorial: Progress In Understanding The Immunogenetic Basis Of Disease Susceptibility And Outcomes, Tina Bharani, Divyansh Agarwal
Department of Surgery Faculty Papers
No abstract provided.
Association Of Respiratory Symptoms And Lung Function With Occupation In The Multinational Burden Of Obstructive Lung Disease (Bold) Study, Jate Ratanachina, Andre F S Amara, Sara De Matteis, Herve Lawin, Kevin Mortimer, Daniel O. Obaseki, Imed Harrabi, Meriam Denguezli, Emiel F M Wouters, Asaad Ahmed Nafees
Association Of Respiratory Symptoms And Lung Function With Occupation In The Multinational Burden Of Obstructive Lung Disease (Bold) Study, Jate Ratanachina, Andre F S Amara, Sara De Matteis, Herve Lawin, Kevin Mortimer, Daniel O. Obaseki, Imed Harrabi, Meriam Denguezli, Emiel F M Wouters, Asaad Ahmed Nafees
Community Health Sciences
Chronic obstructive pulmonary disease has been associated with exposures in the workplace. We aimed to assess the association of respiratory symptoms and lung function with occupation in the Burden of Obstructive Lung Disease study. We analysed cross-sectional data from 28,823 adults (≥40 years) in 34 countries. Eleven occupations were considered and grouped by likelihood of exposure to organic dusts, inorganic dusts and fumes. The association of chronic cough, chronic phlegm, wheeze, dyspnoea, FEV1/FVC and FVC with occupation was assessed, per study site, using multivariable regression. These estimates were then meta-analysed. Sensitivity analyses explored differences between sexes and gross national income …
Occlusionchip: A Functional Microcapillary Occlusion Assay Complementary To Ektacytometry For Detection Of Small-Fraction Red Blood Cells With Abnormal Deformability, Yuncheng Man, Ran An, Karamoja Monchamp, Zoe Sekyonda, Erdem Kucukal, Chiara Federici, William J. Wulftange, Utku Goreke, Allison Bode, Umut A. Gurkan
Occlusionchip: A Functional Microcapillary Occlusion Assay Complementary To Ektacytometry For Detection Of Small-Fraction Red Blood Cells With Abnormal Deformability, Yuncheng Man, Ran An, Karamoja Monchamp, Zoe Sekyonda, Erdem Kucukal, Chiara Federici, William J. Wulftange, Utku Goreke, Allison Bode, Umut A. Gurkan
Faculty Scholarship
Red blood cell (RBC) deformability is a valuable hemorheological biomarker that can be used to assess the clinical status and response to therapy of individuals with sickle cell disease (SCD). RBC deformability has been measured by ektacytometry for decades, which uses shear or osmolar stress. However, ektacytometry is a population based measurement that does not detect small-fractions of abnormal RBCs. A single cell-based, functional RBC deformability assay would complement ektacytometry and provide additional information. Here, we tested the relative merits of the OcclusionChip, which measures RBC deformability by microcapillary occlusion, and ektacytometry. We tested samples containing glutaraldehyde-stiffened RBCs for up …
Creating And Implementing A Principal Investigator Tool Kit For Enhancing Accrual To Late Phase Clinical Trials: Development And Usability Study., Kristin A Higgins, Alexandra Thomas, Nancy Soto, Rebecca Paulus, Thomas J George, Thomas B Julian, Sharon Hartson Stine, Merry Jennifer Markham, Maria Werner-Wasik
Creating And Implementing A Principal Investigator Tool Kit For Enhancing Accrual To Late Phase Clinical Trials: Development And Usability Study., Kristin A Higgins, Alexandra Thomas, Nancy Soto, Rebecca Paulus, Thomas J George, Thomas B Julian, Sharon Hartson Stine, Merry Jennifer Markham, Maria Werner-Wasik
Kimmel Cancer Center Faculty Papers
BACKGROUND: Accrual to oncology clinical trials remains a challenge, particularly during the COVID-19 pandemic. For late phase clinical trials funded by the National Cancer Institute, the development of these research protocols is a resource-intensive process; however, mechanisms to optimize patient accrual after trial activation are underdeveloped across the National Clinical Trial Network (NCTN). Low patient accrual can lead to the premature closure of clinical trials and can ultimately delay the availability of new, potentially life-saving therapies in oncology.
OBJECTIVE: The purpose of this study is to formally create an easily implemented tool kit of resources for investigators of oncology clinical …
Comparing Kidney Health Outcomes In Children, Adolescents, And Adults With Focal Segmental Glomerulosclerosis., Debbie S. Gipson, Jonathan P. Troost, Cathie Spino, Samara Attalla, Joshua Tarnoff, Susan Massengill, Richard Lafayette, Virginia Vega-Warner, Sharon Adler, Patrick Gipson, Matthew Elliott, Frederick Kaskel, Damian Fermin, Marva Moxey-Mims, Richard N. Fine, Elizabeth J. Brown, Kimberly Reidy, Katherine Tuttle, Keisha Gibson, Kevin V. Lemley, Larry A. Greenbaum, Meredith A. Atkinson, Sangeeta Hingorani, Tarak Srivastava, Christine B. Sethna, Kevin Meyers, Cheryl Tran, Katherine M. Dell, Chia-Shi Wang, Jennifer Lai Yee, Matthew G. Sampson, Rasheed Gbadegesin, J J Lin, Tammy Brady, Michelle Rheault, Howard Trachtman
Comparing Kidney Health Outcomes In Children, Adolescents, And Adults With Focal Segmental Glomerulosclerosis., Debbie S. Gipson, Jonathan P. Troost, Cathie Spino, Samara Attalla, Joshua Tarnoff, Susan Massengill, Richard Lafayette, Virginia Vega-Warner, Sharon Adler, Patrick Gipson, Matthew Elliott, Frederick Kaskel, Damian Fermin, Marva Moxey-Mims, Richard N. Fine, Elizabeth J. Brown, Kimberly Reidy, Katherine Tuttle, Keisha Gibson, Kevin V. Lemley, Larry A. Greenbaum, Meredith A. Atkinson, Sangeeta Hingorani, Tarak Srivastava, Christine B. Sethna, Kevin Meyers, Cheryl Tran, Katherine M. Dell, Chia-Shi Wang, Jennifer Lai Yee, Matthew G. Sampson, Rasheed Gbadegesin, J J Lin, Tammy Brady, Michelle Rheault, Howard Trachtman
Manuscripts, Articles, Book Chapters and Other Papers
Importance: Focal segmental glomerulosclerosis (FSGS) is a common cause of end-stage kidney disease (ESKD) across the lifespan. While 10% to 15% of children and 3% of adults who develop ESKD have FSGS, it remains uncertain whether the natural history differs in pediatric vs adult patients, and this uncertainty contributes to the exclusion of children and adolescents in clinical trials.
Objective: To examine whether there are differences in the kidney health outcomes among children, adolescents, and adults with FSGS.
Design, Setting, and Participants: This cohort study used pooled and parallel analyses, completed July 5, 2022, from 3 complimentary data sources: (1) …
Spinal Cord Dose Reduction Using A Jaw-Blocking Vmat Technique - A Retrospective Study Of Chordoma And Chondrosarcoma Patients, Amber Wyatt
Masters Projects
Chordomas and chondrosarcomas are rare tumors that commonly experience loco-regional recurrence after primary treatment, making management of these tumors complex and difficult. Published case series reporting post-surgical outcomes for chordoma indicate that loco-regional recurrence affects more than 50% of patients treated with macroscopic complete resection with or without RT. Notably, a high proportion of recurrences occur late (after 5 and 10 years), requiring long-term follow-up. Chordomas and chondrosarcomas are considered to be radioresistant and require high doses of radiation greater than 60 Gy (Catanzano et al., 2019). There is a little data available regarding the most effective way to minimize …
Modeling Neonatal Intraventricular Hemorrhage Through Intraventricular Injection Of Hemoglobin, Brandon A Miller, Shelei Pan, Peter H Yang, Catherine Wang, Amanda L Trout, Dakota Defreitas, Sruthi Ramagiri, Scott D Olson, Jennifer M Strahle
Modeling Neonatal Intraventricular Hemorrhage Through Intraventricular Injection Of Hemoglobin, Brandon A Miller, Shelei Pan, Peter H Yang, Catherine Wang, Amanda L Trout, Dakota Defreitas, Sruthi Ramagiri, Scott D Olson, Jennifer M Strahle
Faculty, Staff and Student Publications
Neonatal intraventricular hemorrhage (IVH) is a common consequence of premature birth and leads to brain injury, posthemorrhagic hydrocephalus (PHH), and lifelong neurological deficits. While PHH can be treated by temporary and permanent cerebrospinal fluid (CSF) diversion procedures (ventricular reservoir and ventriculoperitoneal shunt, respectively), there are no pharmacological strategies to prevent or treat IVH-induced brain injury and hydrocephalus. Animal models are needed to better understand the pathophysiology of IVH and test pharmacological treatments. While there are existing models of neonatal IVH, those that reliably result in hydrocephalus are often limited by the necessity for large-volume injections, which may complicate modeling of …
Klf5 Governs Sphingolipid Metabolism And Barrier Function Of The Skin, Ying Lyu, Yinglu Guan, Lisa Deliu, Ericka Humphrey, Joanna K Frontera, Youn Joo Yang, Daniel Zamler, Kun Hee Kim, Vakul Mohanty, Kevin Jin, Vakul Mohanty, Virginia Liu, Jinzhuang Dou, Lucas J Veillon, Shwetha V Kumar, Philip L Lorenzi, Yang Chen, Kathleen M Mcandrews, Sergei Grivennikov, Xingzhi Song, Jianhua Zhang, Yuanxin Xi, Jing Wang, Ken Chen, Priyadharsini Nagarajan, Yejing Ge
Klf5 Governs Sphingolipid Metabolism And Barrier Function Of The Skin, Ying Lyu, Yinglu Guan, Lisa Deliu, Ericka Humphrey, Joanna K Frontera, Youn Joo Yang, Daniel Zamler, Kun Hee Kim, Vakul Mohanty, Kevin Jin, Vakul Mohanty, Virginia Liu, Jinzhuang Dou, Lucas J Veillon, Shwetha V Kumar, Philip L Lorenzi, Yang Chen, Kathleen M Mcandrews, Sergei Grivennikov, Xingzhi Song, Jianhua Zhang, Yuanxin Xi, Jing Wang, Ken Chen, Priyadharsini Nagarajan, Yejing Ge
Faculty, Staff and Student Publications
Stem cells are fundamental units of tissue remodeling whose functions are dictated by lineage-specific transcription factors. Home to epidermal stem cells and their upward-stratifying progenies, skin relies on its secretory functions to form the outermost protective barrier, of which a transcriptional orchestrator has been elusive. KLF5 is a Krüppel-like transcription factor broadly involved in development and regeneration whose lineage specificity, if any, remains unclear. Here we report KLF5 specifically marks the epidermis, and its deletion leads to skin barrier dysfunction in vivo. Lipid envelopes and secretory lamellar bodies are defective in KLF5-deficient skin, accompanied by preferential loss of complex sphingolipids. …
Terrestrial Health Applications Of Visual Assessment Technology And Machine Learning In Spaceflight Associated Neuro-Ocular Syndrome, Joshua Ong, Alireza Tavakkoli, Nasif Zaman, Sharif Amit Kamran, Ethan Waisberg, Nikhil Gautam, Andrew G Lee
Terrestrial Health Applications Of Visual Assessment Technology And Machine Learning In Spaceflight Associated Neuro-Ocular Syndrome, Joshua Ong, Alireza Tavakkoli, Nasif Zaman, Sharif Amit Kamran, Ethan Waisberg, Nikhil Gautam, Andrew G Lee
Faculty, Staff and Student Publications
The neuro-ocular effects of long-duration spaceflight have been termed Spaceflight Associated Neuro-Ocular Syndrome (SANS) and are a potential challenge for future, human space exploration. The underlying pathogenesis of SANS remains ill-defined, but several emerging translational applications of terrestrial head-mounted, visual assessment technology and machine learning frameworks are being studied for potential use in SANS. To develop such technology requires close consideration of the spaceflight environment which is limited in medical resources and imaging modalities. This austere environment necessitates the utilization of low mass, low footprint technology to build a visual assessment system that is comprehensive, accessible, and efficient. In this …
The Roles Of Gut Microbiome And Plasma Metabolites In The Associations Between Abo Blood Groups And Insulin Homeostasis: The Microbiome And Insulin Longitudinal Evaluation Study (Miles), Ruifang Li-Gao, Kirk Grubbs, Alain G Bertoni, Kristi L Hoffman, Joseph F Petrosino, Gautam Ramesh, Martin Wu, Jerome I Rotter, Yii-Der Ida Chen, Anne M Evans, Richard J Robinson, Laura Sommerville, Dennis Mook-Kanamori, Mark O Goodarzi, Gregory A Michelotti, Patricia A Sheridan
The Roles Of Gut Microbiome And Plasma Metabolites In The Associations Between Abo Blood Groups And Insulin Homeostasis: The Microbiome And Insulin Longitudinal Evaluation Study (Miles), Ruifang Li-Gao, Kirk Grubbs, Alain G Bertoni, Kristi L Hoffman, Joseph F Petrosino, Gautam Ramesh, Martin Wu, Jerome I Rotter, Yii-Der Ida Chen, Anne M Evans, Richard J Robinson, Laura Sommerville, Dennis Mook-Kanamori, Mark O Goodarzi, Gregory A Michelotti, Patricia A Sheridan
Faculty, Staff and Students Publications
Non-O blood groups are associated with decreased insulin sensitivity and risk of type 2 diabetes. A recent study pinpointed the associations between ABO blood groups and gut microbiome, which may serve as potential mediators for the observed increased disease risks. We aimed to characterize associations between ABO haplotypes and insulin-related traits as well as potential mediating pathways. We assessed insulin homeostasis in African Americans (AAs; n = 109) and non-Hispanic whites (n = 210) from the Microbiome and Insulin Longitudinal Evaluation Study. The ABO haplotype was determined by six SNPs located in the ABO gene. Based on prior knowledge, …
The Microrna Processor Drosha Is A Candidate Gene For A Severe Progressive Neurological Disorder, Scott Barish, Mumine Senturk, Kelly Schoch, Amanda L Minogue, Diego Lopergolo, Chiara Fallerini, Jake Harland, Jacob H Seemann, Nicholas Stong, Peter G Kranz, Sujay Kansagra, Mohamad A Mikati, Joan Jasien, Mays El-Dairi, Paolo Galluzzi, Francesca Ariani, Alessandra Renieri, Francesca Mari, Michael F Wangler, Swathi Arur, Yong-Hui Jiang, Shinya Yamamoto, Vandana Shashi, Hugo J Bellen
The Microrna Processor Drosha Is A Candidate Gene For A Severe Progressive Neurological Disorder, Scott Barish, Mumine Senturk, Kelly Schoch, Amanda L Minogue, Diego Lopergolo, Chiara Fallerini, Jake Harland, Jacob H Seemann, Nicholas Stong, Peter G Kranz, Sujay Kansagra, Mohamad A Mikati, Joan Jasien, Mays El-Dairi, Paolo Galluzzi, Francesca Ariani, Alessandra Renieri, Francesca Mari, Michael F Wangler, Swathi Arur, Yong-Hui Jiang, Shinya Yamamoto, Vandana Shashi, Hugo J Bellen
Faculty, Staff and Students Publications
DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To date, DROSHA has not yet been associated with a Mendelian disease. Here, we describe two individuals with profound intellectual disability, epilepsy, white matter atrophy, microcephaly and dysmorphic features, who carry damaging de novo heterozygous variants in DROSHA. DROSHA is constrained for missense variants and moderately intolerant to loss-of-function (o/e = 0.24). The loss of the fruit fly ortholog drosha causes developmental arrest and death in third instar larvae, a severe reduction in brain size and loss …
Double-Inlet Left Ventricle, P Syamasundar Rao
Double-Inlet Left Ventricle, P Syamasundar Rao
Faculty, Staff and Student Publications
Double-inlet left ventricle (DILV) is most frequent among univentricular atrioventricular connections. In DILV, there is a single functioning ventricle, most commonly with left ventricular structure. This chamber receives both atrioventricular valves and is connected to an outlet chamber with morphologic features of the right ventricle. The great vessels are often transposed, and pulmonary stenosis is seen in two-thirds of patients. The anatomy and pathophysiology can be defined by echo-Doppler studies with a rare need for other imaging studies. The management is mostly related to the nature of associated heart defects and the degree of pathophysiological abnormality. When the infants present …
Testicular Adrenal Rest Tumors In A Patient With Congenital Adrenal Hyperplasia, Su-Yuan Yu Bs, Kelly Freed Md
Testicular Adrenal Rest Tumors In A Patient With Congenital Adrenal Hyperplasia, Su-Yuan Yu Bs, Kelly Freed Md
Department of Radiology & Diagnostic Medical Imaging
No abstract provided.
Igg Antibodies To Sars-Cov-2 In Asymptomatic Blood Donors At Two Time Points In Karachi, Muhammad Hasan, Bushra Moiz, Shama Qaiser, Kiran I. Masood, Zara Ghous, Areeba Hussain, Natasha Bahadur Ali, Syed Hani Abidi, Kulsoom Ghias, Erum Khan, Zahra Hasan
Igg Antibodies To Sars-Cov-2 In Asymptomatic Blood Donors At Two Time Points In Karachi, Muhammad Hasan, Bushra Moiz, Shama Qaiser, Kiran I. Masood, Zara Ghous, Areeba Hussain, Natasha Bahadur Ali, Syed Hani Abidi, Kulsoom Ghias, Erum Khan, Zahra Hasan
Department of Pathology and Laboratory Medicine
Introduction: An estimated 1.5 million cases were reported in Pakistan until 23 March, 2022. However, SARS-CoV-2 PCR testing capacity has been limited and the incidence of COVID-19 infections is unknown. Volunteer healthy blood donors can be a control population for assessment of SARS-CoV-2 exposure in the population. We determined COVID-19 seroprevalence during the second pandemic wave in Karachi in donors without known infections or symptoms in 4 weeks prior to enrollment.
Materials and methods: We enrolled 558 healthy blood donors at the Aga Khan University Hospital between December 2020 and February 2021. ABO blood groups were determined. Serum IgG reactivity …
Number-Time Interaction: Search For A Common Magnitude System In A Cross-Modal Setting, Anuj Shukla, Raju S Bapi
Number-Time Interaction: Search For A Common Magnitude System In A Cross-Modal Setting, Anuj Shukla, Raju S Bapi
Faculty, Staff and Student Publications
A theory of magnitude (ATOM) suggests that a generalized magnitude system in the brain processes magnitudes such as space, time, and numbers. Numerous behavioral and neurocognitive studies have provided support to ATOM theory. However, the evidence for common magnitude processing primarily comes from the studies in which numerical and temporal information are presented visually. Our current understanding of such cross-dimensional magnitude interactions is limited to visual modality only. However, it is still unclear whether the ATOM-framework accounts for the integration of cross-modal magnitude information. To examine the cross-modal influence of numerical magnitude on temporal processing of the tone, we conducted …
A Sparse Representation Strategy To Eliminate Pseudo-Hfo Events From Intracranial Eeg For Seizure Onset Zone Localization, Behrang Fazli Besheli, Zhiyi Sha, Jay R Gavvala, Candan Gurses, Sacit Karamursel, Michael M Quach, Daniel J Curry, Sameer A Sheth, David J Francis, Thomas R Henry, Nuri F Ince
A Sparse Representation Strategy To Eliminate Pseudo-Hfo Events From Intracranial Eeg For Seizure Onset Zone Localization, Behrang Fazli Besheli, Zhiyi Sha, Jay R Gavvala, Candan Gurses, Sacit Karamursel, Michael M Quach, Daniel J Curry, Sameer A Sheth, David J Francis, Thomas R Henry, Nuri F Ince
Faculty, Staff and Student Publications
Objective.
High-frequency oscillations (HFOs) are considered a biomarker of the epileptogenic zone in intracranial EEG recordings. However, automated HFO detectors confound true oscillations with spurious events caused by the presence of artifacts.
Approach.
We hypothesized that, unlike pseudo-HFOs with sharp transients or arbitrary shapes, real HFOs have a signal characteristic that can be represented using a small number of oscillatory bases. Based on this hypothesis using a sparse representation framework, this study introduces a new classification approach to distinguish true HFOs from the pseudo-events that mislead seizure onset zone (SOZ) localization. Moreover, we further classified the HFOs into ripples and …
Covid-19 Newsletter (Vol. 133), Center For Disaster Medicine, New York Medical College
Covid-19 Newsletter (Vol. 133), Center For Disaster Medicine, New York Medical College
COVID-19 Newsletter
No abstract provided.
Prazosin Dosed 3 Times A Day To Treat Flashbacks Related To Ptsd: A Case Report, Christie Richardson, Alexander Swartz, Martin Forsberg
Prazosin Dosed 3 Times A Day To Treat Flashbacks Related To Ptsd: A Case Report, Christie Richardson, Alexander Swartz, Martin Forsberg
Rowan-Virtua School of Osteopathic Medicine Departmental Research
Prazosin is an alpha-1 adrenergic receptor antagonist widely known by mental health providers for its off-label use for nightmares in patients with PTSD. Prazosin is lipophilic and crosses the blood-brain barrier to antagonize alpha-1 receptors in the central nervous system, potentially reducing autonomic arousal caused by PTSD. There have been numerous case reports describing the reduction of nightmares and daytime flashbacks due to PTSD with prazosin dosed at night and during the day, respectively. This case report illustrates the resolution of flashbacks related to chronic PTSD with prazosin dosed 3 times a day. As the half-life of prazosin is only …
Cardiovascular Outcomes Of Transradial Versus Transfemoral Percutaneous Coronary Intervention In End-Stage Renal Disease: A Regression-Based Comparison, Yasar Sattar, Mohammed Faisaluddin, Talal Almas, Noora Alhajri, Rajendra Shah, Mohamed Zghouzi, Fnu Zafrullah, Prasana M Sengodon, Muhammad Zia Khan, Waqas Ullah, Mahboob Alam, Sudharshan Balla, Nasser Lakkis, Akram Kawsara, Ramesh Daggubati, M Chadi Alraies
Cardiovascular Outcomes Of Transradial Versus Transfemoral Percutaneous Coronary Intervention In End-Stage Renal Disease: A Regression-Based Comparison, Yasar Sattar, Mohammed Faisaluddin, Talal Almas, Noora Alhajri, Rajendra Shah, Mohamed Zghouzi, Fnu Zafrullah, Prasana M Sengodon, Muhammad Zia Khan, Waqas Ullah, Mahboob Alam, Sudharshan Balla, Nasser Lakkis, Akram Kawsara, Ramesh Daggubati, M Chadi Alraies
Division of Cardiology Faculty Papers
Background: Limited data is available on the comparison of outcomes of transradial (TR) and transfemoral (TF) access for percutaneous coronary intervention (PCI) in patients with end-stage stage renal disease (ESRD).
Methods: Online databases were queried to compare cardiovascular outcomes among TR. and TF in ESRD patients. The outcomes assessed included differences in mortality, cerebrovascular accidents (CVA), periprocedural myocardial infarction (MI), bleeding, transfusion, and periprocedural cardiogenic shock (CS). Unadjusted odds ratios (OR) were calculated using a random-effect effect model.
Results: A total of 6 studies including 7,607 patients (TR-PCI = 1,288; TF-PCI = 6,319) were included. The overall mean age was …
Novel Dominant And Recessive Variants In Human Robo1 Cause Distinct Neurodevelopmental Defects Through Different Mechanisms, Yan Huang, Mengqi Ma, Xiao Mao, Davut Pehlivan, Oguz Kanca, Feride Un-Candan, Li Shu, Gulsen Akay, Tadahiro Mitani, Shenzhao Lu, Sukru Candan, Hua Wang, Bo Xiao, James R Lupski, Hugo J Bellen
Novel Dominant And Recessive Variants In Human Robo1 Cause Distinct Neurodevelopmental Defects Through Different Mechanisms, Yan Huang, Mengqi Ma, Xiao Mao, Davut Pehlivan, Oguz Kanca, Feride Un-Candan, Li Shu, Gulsen Akay, Tadahiro Mitani, Shenzhao Lu, Sukru Candan, Hua Wang, Bo Xiao, James R Lupski, Hugo J Bellen
Duncan NRI Faculty and Staff Publications
The Roundabout (Robo) receptors, located on growth cones of neurons, induce axon repulsion in response to the extracellular ligand Slit. The Robo family of proteins controls midline crossing of commissural neurons during development in flies. Mono- and bi-allelic variants in human ROBO1 (HGNC: 10249) have been associated with incomplete penetrance and variable expressivity for a breath of phenotypes, including neurodevelopmental defects such as strabismus, pituitary defects, intellectual impairment, as well as defects in heart and kidney. Here, we report two novel ROBO1 variants associated with very distinct phenotypes. A homozygous missense p.S1522L variant in three affected siblings with nystagmus; and …
Two Interaction Surfaces Between Xpa And Rpa Organize The Preincision Complex In Nucleotide Excision Repair, Mihyun Kim, Hyun-Suk Kim, Areetha D'Souza, Kaitlyn Gallagher, Eunwoo Jeong, Agnieszka Topolska-Wós, Kateryna Ogorodnik Le Meur, Chi-Lin Tsai, Miaw-Sheue Tsai, Minyong Kee, John A Tainer, Jung-Eun Yeo, Walter J Chazin, Orlando D Schärer
Two Interaction Surfaces Between Xpa And Rpa Organize The Preincision Complex In Nucleotide Excision Repair, Mihyun Kim, Hyun-Suk Kim, Areetha D'Souza, Kaitlyn Gallagher, Eunwoo Jeong, Agnieszka Topolska-Wós, Kateryna Ogorodnik Le Meur, Chi-Lin Tsai, Miaw-Sheue Tsai, Minyong Kee, John A Tainer, Jung-Eun Yeo, Walter J Chazin, Orlando D Schärer
Faculty, Staff and Student Publications
The xeroderma pigmentosum protein A (XPA) and replication protein A (RPA) proteins fulfill essential roles in the assembly of the preincision complex in the nucleotide excision repair (NER) pathway. We have previously characterized the two interaction sites, one between the XPA N-terminal (XPA-N) disordered domain and the RPA32 C-terminal domain (RPA32C), and the other with the XPA DNA binding domain (DBD) and the RPA70AB DBDs. Here, we show that XPA mutations that inhibit the physical interaction in either site reduce NER activity in biochemical and cellular systems. Combining mutations in the two sites leads to an additive inhibition of NER, …
Grk3 Is A Poor Prognosticator And Serves As A Therapeutic Target In Advanced Gastric Adenocarcinoma, Yuan Li, Yibo Fan, Jinbang Xu, Longfei Huo, Ailing W Scott, Jiankang Jin, Boxuan Yang, Shan Shao, Lang Ma, Ying Wang, Xiaodan Yao, Melissa Pool Pizzi, Matheus Sewastjanow Da Silva, Guoliang Zhang, Lijuan Zhuo, Eun Jeong Cho, Kevin N Dalby, Namita D Shanbhag, Zhenning Wang, Wenliang Li, Shumei Song, Jaffer A Ajani
Grk3 Is A Poor Prognosticator And Serves As A Therapeutic Target In Advanced Gastric Adenocarcinoma, Yuan Li, Yibo Fan, Jinbang Xu, Longfei Huo, Ailing W Scott, Jiankang Jin, Boxuan Yang, Shan Shao, Lang Ma, Ying Wang, Xiaodan Yao, Melissa Pool Pizzi, Matheus Sewastjanow Da Silva, Guoliang Zhang, Lijuan Zhuo, Eun Jeong Cho, Kevin N Dalby, Namita D Shanbhag, Zhenning Wang, Wenliang Li, Shumei Song, Jaffer A Ajani
Faculty, Staff and Student Publications
Background: G protein-coupled receptor (GPCR) is the most targeted protein family by the FDA-approved drugs. GPCR-kinase 3 (GRK3) is critical for GPCR signaling. Our genomic analysis showed that GRK3 expression correlated with poor prognosis of gastric adenocarcinoma (GAC) patients. However, GRK3's functions and clinical utility in GAC progression and metastases are unknown.
Methods: We studied GRK3 expression in normal, primary, and metastatic GAC tissues. We identified a novel GRK3 inhibitor, LD2, through a chemical-library screen. Through genetic and pharmacologic modulations of GRK3, a series of functional and molecular studies were performed in vitro and in vivo. Impact of GRK3 on …
Genome-Wide Interaction Analysis Identified Low-Frequency Variants With Sex Disparity In Lung Cancer Risk, Yafang Li, Xiangjun Xiao, Jianrong Li, Jinyoung Byun, Chao Cheng, Yohan Bossé, James Mckay, Demetrios Albanes, Stephen Lam, Adonina Tardon, Chu Chen, Stig E Bojesen, Maria T Landi, Mattias Johansson, Angela Risch, Heike Bickeböller, H-Erich Wichmann, David C Christiani, Gad Rennert, Susanne Arnold, Gary Goodman, John K Field, Michael P A Davies, Sanjay S Shete, Loic Le Marchand, Olle Melander, Hans Brunnström, Geoffrey Liu, Rayjean J Hung, Angeline S Andrew, Lambertus A Kiemeney, Hongbing Shen, Ryan Sun, Shan Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil Caporaso, Dawn M Teare, Yun-Chul Hong, Philip Lazarus, Matthew B Schabath, Melinda C Aldrich, Ann G Schwartz, Ivan Gorlov, Kristen Purrington, Ping Yang, Yanhong Liu, Younghun Han, Joan E Bailey-Wilson, Susan M Pinney, Diptasri Mandal, James C Willey, Colette Gaba, Paul Brennan, Christopher I Amos, Integral-Ilcco Lung Cancer Consortium
Genome-Wide Interaction Analysis Identified Low-Frequency Variants With Sex Disparity In Lung Cancer Risk, Yafang Li, Xiangjun Xiao, Jianrong Li, Jinyoung Byun, Chao Cheng, Yohan Bossé, James Mckay, Demetrios Albanes, Stephen Lam, Adonina Tardon, Chu Chen, Stig E Bojesen, Maria T Landi, Mattias Johansson, Angela Risch, Heike Bickeböller, H-Erich Wichmann, David C Christiani, Gad Rennert, Susanne Arnold, Gary Goodman, John K Field, Michael P A Davies, Sanjay S Shete, Loic Le Marchand, Olle Melander, Hans Brunnström, Geoffrey Liu, Rayjean J Hung, Angeline S Andrew, Lambertus A Kiemeney, Hongbing Shen, Ryan Sun, Shan Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil Caporaso, Dawn M Teare, Yun-Chul Hong, Philip Lazarus, Matthew B Schabath, Melinda C Aldrich, Ann G Schwartz, Ivan Gorlov, Kristen Purrington, Ping Yang, Yanhong Liu, Younghun Han, Joan E Bailey-Wilson, Susan M Pinney, Diptasri Mandal, James C Willey, Colette Gaba, Paul Brennan, Christopher I Amos, Integral-Ilcco Lung Cancer Consortium
Faculty, Staff and Students Publications
Differences by sex in lung cancer incidence and mortality have been reported which cannot be fully explained by sex differences in smoking behavior, implying existence of genetic and molecular basis for sex disparity in lung cancer development. However, the information about sex dimorphism in lung cancer risk is quite limited despite the great success in lung cancer association studies. By adopting a stringent two-stage analysis strategy, we performed a genome-wide gene-sex interaction analysis using genotypes from a lung cancer cohort including ~ 47 000 individuals with European ancestry. Three low-frequency variants (minor allele frequency < 0.05), rs17662871 [odds ratio (OR) = 0.71, P = 4.29×10-8); rs79942605 (OR = 2.17, P = 2.81×10-8) and rs208908 (OR = 0.70, P = 4.54×10-8) were identified with different risk effect of lung cancer between men and women. Further expression quantitative trait loci and functional annotation analysis suggested rs208908 affects lung cancer risk through differential regulation of Coxsackie virus and adenovirus receptor gene expression in lung tissues between men and women. Our study is one of the first studies to provide novel insights about the genetic and molecular basis for sex disparity in lung cancer development.
Cardiovascular Outcomes Of Transradial Versus Transfemoral Percutaneous Coronary Intervention In End-Stage Renal Disease: A Regression-Based Comparison, Yasar Sattar, Mohammed Faisaluddin, Talal Almas, Noora Alhajri, Rajendra Shah, Mohamed Zghouzi, Fnu Zafrullah, Prasana M Sengodon, Muhammad Zia Khan, Waqas Ullah, Mahboob Alam, Sudharshan Balla, Nasser Lakkis, Akram Kawsara, Ramesh Daggubati, M Chadi Alraies
Cardiovascular Outcomes Of Transradial Versus Transfemoral Percutaneous Coronary Intervention In End-Stage Renal Disease: A Regression-Based Comparison, Yasar Sattar, Mohammed Faisaluddin, Talal Almas, Noora Alhajri, Rajendra Shah, Mohamed Zghouzi, Fnu Zafrullah, Prasana M Sengodon, Muhammad Zia Khan, Waqas Ullah, Mahboob Alam, Sudharshan Balla, Nasser Lakkis, Akram Kawsara, Ramesh Daggubati, M Chadi Alraies
Faculty, Staff and Students Publications
Background: Limited data is available on the comparison of outcomes of transradial (TR) and transfemoral (TF) access for percutaneous coronary intervention (PCI) in patients with end-stage stage renal disease (ESRD).
Methods: Online databases were queried to compare cardiovascular outcomes among TR. and TF in ESRD patients. The outcomes assessed included differences in mortality, cerebrovascular accidents (CVA), periprocedural myocardial infarction (MI), bleeding, transfusion, and periprocedural cardiogenic shock (CS). Unadjusted odds ratios (OR) were calculated using a random-effect effect model.
Results: A total of 6 studies including 7,607 patients (TR-PCI = 1,288; TF-PCI = 6,319) were included. The overall mean age was …
Immunohistochemical Detection And Prognostic Significance Of P53, Epidermal Growth Factor Receptor, Murine Double Minute 2, And Isocitrate Dehydrogenase 1 In Glioblastoma Multiforme Patients Of Pakistan, Syed Muhammad Adnan Ali, Muhammad Shahzad Shamim, Syed Ather Enam, Zubair Ahmad, Yumna Adnan, Hasnain Ahmed Farooqui
Immunohistochemical Detection And Prognostic Significance Of P53, Epidermal Growth Factor Receptor, Murine Double Minute 2, And Isocitrate Dehydrogenase 1 In Glioblastoma Multiforme Patients Of Pakistan, Syed Muhammad Adnan Ali, Muhammad Shahzad Shamim, Syed Ather Enam, Zubair Ahmad, Yumna Adnan, Hasnain Ahmed Farooqui
Department of Surgery Docs
Introduction: Glioblastoma multiforme (GBM) is one of the deadliest cranial tumors occurring in adults. Various biomarkers have been tested for their significance in diagnosis, prognosis, and treatment of GBM. Some well-studied markers in GBM are Isocitrate dehydrogenase 1 (IDH1), Murine double minute 2 (MDM2), Epidermal Growth Factor Receptor (EGFR), and p53. The aim of this study was to investigate the protein expression of these markers in GBM patients of Pakistan.
Methods: A total of 102 surgically resected formalin-fixed paraffin-embedded specimens from patients diagnosed and treated at Aga Khan University Hospital were included in this study. Immunohistochemistry (IHC) for IDH1, MDM2, …
'Empty Toe' Phenomenon: A Unique Trauma Case, Sadaf Sheikh, Junaid Khan, Rizwan Haroon Rashid
'Empty Toe' Phenomenon: A Unique Trauma Case, Sadaf Sheikh, Junaid Khan, Rizwan Haroon Rashid
Section of Orthopaedic Surgery
No abstract provided.
Feasibility And Acceptability Of An Active Video Game-Based Physical Activity Support Group (Pink Warrior) For Survivors Of Breast Cancer: Randomized Controlled Pilot Trial, Maria C Swartz, Zakkoyya H Lewis, Rachel R Deer, Anna L Stahl, Michael D Swartz, Ursela Christopherson, Karen Basen-Engquist, Stephanie J Wells, H Colleen Silva, Elizabeth J Lyons
Feasibility And Acceptability Of An Active Video Game-Based Physical Activity Support Group (Pink Warrior) For Survivors Of Breast Cancer: Randomized Controlled Pilot Trial, Maria C Swartz, Zakkoyya H Lewis, Rachel R Deer, Anna L Stahl, Michael D Swartz, Ursela Christopherson, Karen Basen-Engquist, Stephanie J Wells, H Colleen Silva, Elizabeth J Lyons
Faculty, Staff and Student Publications
BACKGROUND: Survivors of breast cancer with functional limitations have a 40% higher mortality rate than those without. Despite the known benefits of physical activity (PA),
OBJECTIVE: We aimed to determine the feasibility and acceptability of a group AVG-based multicomponent PA intervention and estimate its effect size and variability on PA and physical function in female survivors of breast cancer in a clinic setting.
METHODS: Female survivors of breast cancer (N=60) were recruited through the clinic and randomly assigned to the intervention group (12 weekly sessions) or the control group (existing support group). The intervention group received game-based pedometers and participated …
Generalization In Quantum Machine Learning From Few Training Data, Matthias C Caro, Hsin-Yuan Huang, M Cerezo, Kunal Sharma, Andrew Sornborger, Lukasz Cincio, Patrick J Coles
Generalization In Quantum Machine Learning From Few Training Data, Matthias C Caro, Hsin-Yuan Huang, M Cerezo, Kunal Sharma, Andrew Sornborger, Lukasz Cincio, Patrick J Coles
Faculty, Staff and Student Publications
Modern quantum machine learning (QML) methods involve variationally optimizing a parameterized quantum circuit on a training data set, and subsequently making predictions on a testing data set (i.e., generalizing). In this work, we provide a comprehensive study of generalization performance in QML after training on a limited number N of training data points. We show that the generalization error of a quantum machine learning model with T trainable gates scales at worst as [Formula: see text]. When only K ≪ T gates have undergone substantial change in the optimization process, we prove that the generalization error improves to [Formula: see …
Lysyl Hydroxylase 2 Mediated Collagen Post-Translational Modifications And Functional Outcomes, Masahiko Terajima, Yuki Taga, Tomoyuki Nakamura, Hou-Fu Guo, Yukako Kayashima, Nobuyo Maeda-Smithies, Kshitij Parag-Sharma, Jeong Seon Kim, Antonio L Amelio, Kazunori Mizuno, Jonathan M Kurie, Mitsuo Yamauchi
Lysyl Hydroxylase 2 Mediated Collagen Post-Translational Modifications And Functional Outcomes, Masahiko Terajima, Yuki Taga, Tomoyuki Nakamura, Hou-Fu Guo, Yukako Kayashima, Nobuyo Maeda-Smithies, Kshitij Parag-Sharma, Jeong Seon Kim, Antonio L Amelio, Kazunori Mizuno, Jonathan M Kurie, Mitsuo Yamauchi
Faculty, Staff and Student Publications
Lysyl hydroxylase 2 (LH2) is a member of LH family that catalyzes the hydroxylation of lysine (Lys) residues on collagen, and this particular isozyme has been implicated in various diseases. While its function as a telopeptidyl LH is generally accepted, several fundamental questions remain unanswered: 1. Does LH2 catalyze the hydroxylation of all telopeptidyl Lys residues of collagen? 2. Is LH2 involved in the helical Lys hydroxylation? 3. What are the functional consequences when LH2 is completely absent? To answer these questions, we generated LH2-null MC3T3 cells (LH2KO), and extensively characterized the type I collagen phenotypes in comparison with controls. …