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Articles 4441 - 4470 of 25909
Full-Text Articles in Entire DC Network
Associations Between Epilepsy, Respiratory Impairment, And Minor Ecg Abnormalities In Children, See Wai Chan, Angela Chun, Linh Nguyen, Beth Bubolz, Anne E Anderson, Yi-Chen Lai
Associations Between Epilepsy, Respiratory Impairment, And Minor Ecg Abnormalities In Children, See Wai Chan, Angela Chun, Linh Nguyen, Beth Bubolz, Anne E Anderson, Yi-Chen Lai
Faculty, Staff and Students Publications
Objective: We sought to examine the effects of acute seizures and respiratory derangement on the cardiac electrical properties reflected on the electrocardiogram (ECG); and to analyze their potential interactions with a diagnosis of epilepsy in children.
Methods: Emergency center (EC) visits with seizure or epilepsy diagnostic codes from 1/2011-12/2013 were included if they had ECG within 24 h of EC visit. Patients were excluded if they had pre-existing cardiac conditions, ion channelopathy, or were taking specific cardiac medications. Control subjects were 1:1 age and gender matched. Abnormal ECG was defined as changes in rhythm, PR, QRS, or corrected QT intervals; …
Shear Stress Induces A Time-Dependent Inflammatory Response In Human Monocyte-Derived Macrophages, Elysa Jui, Griffin Kingsley, Hong Kim T Phan, Kavya L Singampalli, Ravi K Birla, Jennifer P Connell, Sundeep G Keswani, K Jane Grande-Allen
Shear Stress Induces A Time-Dependent Inflammatory Response In Human Monocyte-Derived Macrophages, Elysa Jui, Griffin Kingsley, Hong Kim T Phan, Kavya L Singampalli, Ravi K Birla, Jennifer P Connell, Sundeep G Keswani, K Jane Grande-Allen
Faculty, Staff and Students Publications
Macrophages are innate immune cells that are known for their extreme plasticity, enabling diverse phenotypes that lie on a continuum. In a simplified model, they switch between pro-inflammatory (M1) and anti-inflammatory (M2) phenotypes depending on surrounding microenvironmental cues, which have been implicated in disease outcomes. Although considerable research has been focused on macrophage response to biochemical cues and mechanical signals, there is a scarcity of knowledge surrounding their behavior in response to shear stress. In this study, we applied varying magnitudes of shear stress on human monocyte-derived macrophages (MDMs) using a cone-and-plate viscometer and evaluated changes in morphology, gene expression, …
Suppression Of Matrigel-Induced Choroidal Neovascularization By Aav Delivery Of A Novel Anti-Scg3 Antibody, Chengchi Huang, Avinash Kaur, Liyang Ji, Hong Tian, Keith A Webster, Wei Li
Suppression Of Matrigel-Induced Choroidal Neovascularization By Aav Delivery Of A Novel Anti-Scg3 Antibody, Chengchi Huang, Avinash Kaur, Liyang Ji, Hong Tian, Keith A Webster, Wei Li
Faculty, Staff and Students Publications
Efforts to develop gene therapy for long-term treatment of neovascular disease are hampered by ongoing concerns that biologics against vascular endothelial growth factor (VEGF) inhibit both physiological and pathological angiogenesis and are therefore at elevated risk of adverse side effects. A potential solution is to develop disease-targeted gene therapy. Secretogranin III (Scg3), a unique disease-restricted angiogenic factor described by our group, contributes significantly to ocular neovascular disease. We have shown that Scg3 blockade with a monoclonal antibody Fab fragment (Fab) stringently inhibits pathological angiogenesis without affecting healthy vessels. Here we tested the therapeutic efficacy of adeno-associated virus (AAV)-anti-Scg3Fab to block …
Diffuse Glioneuronal Tumor With Oligodendroglioma-Like Features And Nuclear Clusters Relapse In A Seven-Year-Old Boy: An Unusual Case Exhibiting Near-Tetraploidy And Chromosome 14 Diploidy, Francis M Torres, Thomas Denapoli, Ping-Sun Chen, Carrie Mohila, Kevin E Fisher, Kenneth Aldape, Mark R Lee, Timothy C Griffin
Diffuse Glioneuronal Tumor With Oligodendroglioma-Like Features And Nuclear Clusters Relapse In A Seven-Year-Old Boy: An Unusual Case Exhibiting Near-Tetraploidy And Chromosome 14 Diploidy, Francis M Torres, Thomas Denapoli, Ping-Sun Chen, Carrie Mohila, Kevin E Fisher, Kenneth Aldape, Mark R Lee, Timothy C Griffin
Faculty, Staff and Students Publications
Diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (DGONC) is a rare brain tumor of the central nervous system (CNS). Although only a few cases of DGONC have been reported following the initial description of the tumor, they have a distinct DNA methylation pattern and share a recurrent chromosomal finding of monosomy 14. We encountered a seven-year-old boy who presented with seizures and was found to have a left frontal and suprasellar mass. The tumor was grossly totally resected; histopathologic evaluation showed a cellular glioneuronal tumor with brisk mitotic activity. A near-tetraploid chromosome complement was detected, with associated diploidy …
Promis Fatigue Scores Are Moderately Correlated With Heart Failure Severity In Pediatrics, Lindsay J May, Josef Stehlik, Zhining Ou, Linda M Lambert, Chiu-Yu Chen, David N Rosenthal, Desiree S Machado, Dalia Lopez-Colon, Renata Shih, Taylor Gibbons, Brian Madden, Kae Watanabe, Angela P Presson, Amy M Cizik, Heather T Keenan
Promis Fatigue Scores Are Moderately Correlated With Heart Failure Severity In Pediatrics, Lindsay J May, Josef Stehlik, Zhining Ou, Linda M Lambert, Chiu-Yu Chen, David N Rosenthal, Desiree S Machado, Dalia Lopez-Colon, Renata Shih, Taylor Gibbons, Brian Madden, Kae Watanabe, Angela P Presson, Amy M Cizik, Heather T Keenan
Faculty, Staff and Students Publications
Background: Patient-reported outcome measures (PROMs) correlate with heart failure (HF) severity among adults and are adjunct tools in clinical care. Limited data exist regarding the validity of PROMs in pediatric HF. Hypothesis: Patient-Reported Outcome Measurement Information System (PROMIS) Pediatric Fatigue correlates with HF severity, measured by the New York University Pediatric Heart Failure Index (NYU PHFI).
Methods: Children ≥8 and < 18 years old were enrolled prospectively at 4 hospitals, from September 2019 to February 2023, while receiving inpatient HF care. NYU PHFI and pediatric self-report PROMIS measures were administered to inpatient and outpatient patients. PROMIS measures: Mobility, Anxiety, Depressive symptoms, Peer relationships, and Fatigue (primary outcome). Paired t-tests compared PROMIS and NYU PHFI scores across time. A mixed-effects model generated correlation coefficients.
Results: In the 41-patient cohort, 20 (48.8%) were discharged without ventricular assist device/transplant, 18 completed inpatient and outpatient assessments. Mean PROMIS Fatigue t-scores …
Bcl-Xl Is Translocated To The Nucleus Via Ctbp2 To Epigenetically Promote Metastasis, Tiantian Zhang, Sha Li, Yingcai Adrian Tan, Xiang Chen, Cheryl Zhang, Zhengming Chen, Bikash Mishra, Joseph Hyungjoon Na, Soyoung Choi, Sandra J Shin, Priyadarshan Damle, Kranthi Kumar Chougoni, Steven R Grossman, Dunrui Wang, Xuejun Jiang, Yi Li, Erika Hissong, Yao-Tseng Chen, Jenny Z Xiang, Yi-Chieh Nancy Du
Bcl-Xl Is Translocated To The Nucleus Via Ctbp2 To Epigenetically Promote Metastasis, Tiantian Zhang, Sha Li, Yingcai Adrian Tan, Xiang Chen, Cheryl Zhang, Zhengming Chen, Bikash Mishra, Joseph Hyungjoon Na, Soyoung Choi, Sandra J Shin, Priyadarshan Damle, Kranthi Kumar Chougoni, Steven R Grossman, Dunrui Wang, Xuejun Jiang, Yi Li, Erika Hissong, Yao-Tseng Chen, Jenny Z Xiang, Yi-Chieh Nancy Du
Faculty, Staff and Students Publications
Nuclear Bcl-xL is found to promote cancer metastasis independently of its mitochondria-based anti-apoptotic activity. How Bcl-xL is translocated into the nucleus and how nuclear Bcl-xL regulates histone H3 trimethyl Lys4 (H3K4me3) modification have yet to be understood. Here, we report that C-terminal Binding Protein 2 (CtBP2) binds to Bcl-xL via its N-terminus and translocates Bcl-xL into the nucleus. Knockdown of CtBP2 by shRNA decreases the nuclear portion of Bcl-xL and reverses Bcl-xL-induced invasion and metastasis in mouse models. Furthermore, knockout of CtBP2 not only reduces the nuclear portion of Bcl-xL but also suppresses Bcl-xL transcription. The binding between Bcl-xL and …
Solid Tumour-Induced Systemic Immunosuppression Involves Dichotomous Myeloid-B Cell Interactions, Xiaoxin Hao, Yichao Shen, Jun Liu, Angela Alexander, Ling Wu, Zhan Xu, Liqun Yu, Yang Gao, Fengshuo Liu, Hilda L Chan, Che-Hsing Li, Yunfeng Ding, Weijie Zhang, David G Edwards, Nan Chen, Azadeh Nasrazadani, Naoto T Ueno, Bora Lim, Xiang H-F Zhang
Solid Tumour-Induced Systemic Immunosuppression Involves Dichotomous Myeloid-B Cell Interactions, Xiaoxin Hao, Yichao Shen, Jun Liu, Angela Alexander, Ling Wu, Zhan Xu, Liqun Yu, Yang Gao, Fengshuo Liu, Hilda L Chan, Che-Hsing Li, Yunfeng Ding, Weijie Zhang, David G Edwards, Nan Chen, Azadeh Nasrazadani, Naoto T Ueno, Bora Lim, Xiang H-F Zhang
Faculty, Staff and Students Publications
Solid tumours induce systemic immunosuppression that involves myeloid and T cells. B cell-related mechanisms remain relatively understudied. Here we discover two distinct patterns of tumour-induced B cell abnormality (TiBA; TiBA-1 and TiBA-2), both associated with abnormal myelopoiesis in the bone marrow. TiBA-1 probably results from the niche competition between pre-progenitor-B cells and myeloid progenitors, leading to a global reduction in downstream B cells. TiBA-2 is characterized by systemic accumulation of a unique early B cell population, driven by interaction with excessive neutrophils. Importantly, TiBA-2-associated early B cells foster the systemic accumulation of exhaustion-like T cells. Myeloid and B cells from …
Factors Associated With Head And Neck Cancer Postoperative Radiotherapy Delays: A Systematic Review And Meta-Analysis, Kelsey A Duckett, Mohamed Faisal Kassir, Shaun A Nguyen, Emily A Brennan, Bhisham S Chera, Katherine R Sterba, Chanita Hughes Halbert, Elizabeth G Hill, Jessica Mccay, Sidharth V Puram, Ryan S Jackson, Vlad C Sandulache, Russel Kahmke, Nosayaba Osazuwa-Peters, Salma Ramadan, Brian Nussenbaum, Anthony J Alberg, Evan M Graboyes
Factors Associated With Head And Neck Cancer Postoperative Radiotherapy Delays: A Systematic Review And Meta-Analysis, Kelsey A Duckett, Mohamed Faisal Kassir, Shaun A Nguyen, Emily A Brennan, Bhisham S Chera, Katherine R Sterba, Chanita Hughes Halbert, Elizabeth G Hill, Jessica Mccay, Sidharth V Puram, Ryan S Jackson, Vlad C Sandulache, Russel Kahmke, Nosayaba Osazuwa-Peters, Salma Ramadan, Brian Nussenbaum, Anthony J Alberg, Evan M Graboyes
Faculty, Staff and Students Publications
Objective: Initiating postoperative radiotherapy (PORT) within 6 weeks of surgery for head and neck squamous cell carcinoma (HNSCC) is included in the National Comprehensive Cancer Network Clincal Practice Guidelines and is a Commission on Cancer quality metric. Factors associated with delays in starting PORT have not been systematically described nor synthesized.
Data sources: PubMed, Scopus, and CINAHL.
Review methods: We included studies describing demographic characteristics, clinical factors, or social determinants of health associated with PORT delay (>6 weeks) in patients with HNSCC treated in the United States after 2003. Meta-analysis of odds ratios (ORs) was performed on nonoverlapping datasets. …
Senescence Biomarkers And Trajectories Of Frailty And Physical Function After Kidney Transplantation, Elizabeth C Lorenz, Byron H Smith, Hani M Wadei, Girish Mour, Cassie C Kennedy, Carrie A Schinstock, Walter K Kremers, Andrea L Cheville, Latonya J Hickson, Elizabeth J Atkinson, Thomas A White, Andrew D Rule, Nathan K Lebrasseur
Senescence Biomarkers And Trajectories Of Frailty And Physical Function After Kidney Transplantation, Elizabeth C Lorenz, Byron H Smith, Hani M Wadei, Girish Mour, Cassie C Kennedy, Carrie A Schinstock, Walter K Kremers, Andrea L Cheville, Latonya J Hickson, Elizabeth J Atkinson, Thomas A White, Andrew D Rule, Nathan K Lebrasseur
Faculty, Staff and Students Publications
Cellular senescence is a biological mechanism of aging and age-related diseases. The aim of this study was to examine whether senescence biomarkers are associated with frailty and physical function trajectories in patients undergoing kidney transplantation (KT). We also discussed the relationship between senescence biomarkers and KT function. In this multicenter study, we prospectively assessed plasma levels of senescence biomarkers, frailty as measured by the Physical Frailty Phenotype, and physical function as measured by the Short Physical Performance Battery prior to KT. Frailty, physical function, and KT function were also measured 1 year after KT. Variable associations were assessed using Cox …
Family Lore, A Variant Of Uncertain Significance, And Cadasil, Rhys Duarte, Liesbeth Vossaert, Sandra A Darilek, Chelsi Rose, Evan Schauer, Christian Parobek, Emily Bland, Keren Machol, Elizabeth Mizerik, Chaya N Murali
Family Lore, A Variant Of Uncertain Significance, And Cadasil, Rhys Duarte, Liesbeth Vossaert, Sandra A Darilek, Chelsi Rose, Evan Schauer, Christian Parobek, Emily Bland, Keren Machol, Elizabeth Mizerik, Chaya N Murali
Faculty, Staff and Students Publications
An infant presents in extremis. After the medical team stabilizes him, the race is on to figure out why he got so sick in the first place. The consulting genetics team thinks that it is unlikely his problems are due to a genetic cause, but his extreme, confounding presentation is enough to justify trio exome sequencing. When the results reveal an unexpected, paternally inherited variant of uncertain significance (VUS) in NOTCH3, fresh questions arise. The infant's presenting symptoms and descriptive diagnoses, including hematemesis, epistaxis, and gastric ulcers, certainly do not fit the mold of CADASIL. However, closer inspection of his …
Metabolites Link Intake Of A Healthy Diet To Better Insulin And Glucose Homeostasis In The Microbiome And Insulin Longitudinal Evaluation Study (Miles), Alexis C Wood, Danielle J Lee, Patricia A Sheridan, Elizabeth T Jensen, Gautam Ramesh, Alain G Bertoni, Stephen S Rich, Yii-Der I Chen, David M Herrington, Jerome I Rotter, Mark O Goodarzi
Metabolites Link Intake Of A Healthy Diet To Better Insulin And Glucose Homeostasis In The Microbiome And Insulin Longitudinal Evaluation Study (Miles), Alexis C Wood, Danielle J Lee, Patricia A Sheridan, Elizabeth T Jensen, Gautam Ramesh, Alain G Bertoni, Stephen S Rich, Yii-Der I Chen, David M Herrington, Jerome I Rotter, Mark O Goodarzi
Faculty, Staff and Students Publications
BACKGROUND: Dietary quality has been linked to better glycemic control, but the precise molecular mechanisms giving rise to these associations are not fully understood.
OBJECTIVES: To examine the association of metabolites associated with the intake of a healthy diet with measures of insulin/glucose homeostasis.
METHODS: Using cross-sectional data from 295 United States adults, the associations between 3 diet pattern scores and metabolome-wide metabolites were estimated via linear regression models, which controlled for demographic factors and health behaviors. Subsequently, the associations between the diet-related metabolites with 6 measures of glucose/insulin homeostasis were examined in similar models. A Bonferroni correction was applied …
Identification Of Single-Cell Blasts In Pediatric Acute Myeloid Leukemia Using An Autoencoder, Alice Driessen, Susanne Unger, An-Phi Nguyen, Rhonda E Ries, Soheil Meshinchi, Stefanie Kreutmair, Chiara Alberti, Pavel Sumazin, Richard Aplenc, Michele S Redell, Burkhard Becher, María Rodríguez Martínez
Identification Of Single-Cell Blasts In Pediatric Acute Myeloid Leukemia Using An Autoencoder, Alice Driessen, Susanne Unger, An-Phi Nguyen, Rhonda E Ries, Soheil Meshinchi, Stefanie Kreutmair, Chiara Alberti, Pavel Sumazin, Richard Aplenc, Michele S Redell, Burkhard Becher, María Rodríguez Martínez
Faculty, Staff and Students Publications
Pediatric acute myeloid leukemia (AML) is an aggressive blood cancer with a poor prognosis and high relapse rate. Current challenges in the identification of immunotherapy targets arise from patient-specific blast immunophenotypes and their change during disease progression. To overcome this, we present a new computational research tool to rapidly identify malignant cells. We generated single-cell flow cytometry profiles of 21 pediatric AML patients with matched samples at diagnosis, remission, and relapse. We coupled a classifier to an autoencoder for anomaly detection and classified malignant blasts with 90% accuracy. Moreover, our method assigns a developmental stage to blasts at the single-cell …
Omnidirectional Wireless Power Transfer For Millimetric Magnetoelectric Biomedical Implants, Wei Wang, Zhanghao Yu, Yiwei Zou, Joshua E Woods, Prahalad Chari, Yumin Su, Jacob T Robinson, Kaiyuan Yang
Omnidirectional Wireless Power Transfer For Millimetric Magnetoelectric Biomedical Implants, Wei Wang, Zhanghao Yu, Yiwei Zou, Joshua E Woods, Prahalad Chari, Yumin Su, Jacob T Robinson, Kaiyuan Yang
Faculty, Staff and Students Publications
Miniature bioelectronic implants promise revolutionary therapies for cardiovascular and neurological disorders. Wireless power transfer (WPT) is a significant method for miniaturization, eliminating the need for bulky batteries in today’s devices. Despite successful demonstrations of millimetric battery-free implants in animal models, the robustness and efficiency of WPT are known to degrade significantly under misalignment incurred by body movements, respiration, heart beating, and limited control of implant orientation during surgery. This paper presents an omnidirectional WPT platform for millimetric bioelectronic implants, employing the emerging magnetoelectric (ME) WPT modality, and “magnetic field steering” technique based on multiple transmitter (TX) coils. To accurately sense …
Car-Redirected Natural Killer T Cells Demonstrate Superior Antitumor Activity To Car-T Cells Through Multimodal Cd1d-Dependent Mechanisms, Xin Zhou, Ying Wang, Zhangqi Dou, Gloria Delfanti, Ourania Tsahouridis, Caroline Marnata Pellegry, Manuela Zingarelli, Gatphan Atassi, Mark G Woodcock, Giulia Casorati, Paolo Dellabona, William Y Kim, Linjie Guo, Barbara Savoldo, Ageliki Tsagaratou, J Justin Milner, Leonid S Metelitsa, Gianpietro Dotti
Car-Redirected Natural Killer T Cells Demonstrate Superior Antitumor Activity To Car-T Cells Through Multimodal Cd1d-Dependent Mechanisms, Xin Zhou, Ying Wang, Zhangqi Dou, Gloria Delfanti, Ourania Tsahouridis, Caroline Marnata Pellegry, Manuela Zingarelli, Gatphan Atassi, Mark G Woodcock, Giulia Casorati, Paolo Dellabona, William Y Kim, Linjie Guo, Barbara Savoldo, Ageliki Tsagaratou, J Justin Milner, Leonid S Metelitsa, Gianpietro Dotti
Faculty, Staff and Students Publications
Human natural killer T (NKT) cells have been proposed as a promising cell platform for chimeric antigen receptor (CAR) therapy in solid tumors. Here we generated murine CAR-NKT cells and compared them with CAR-T cells in immune-competent mice. Both CAR-NKT cells and CAR-T cells showed similar antitumor effects in vitro, but CAR-NKT cells showed superior antitumor activity in vivo via CD1d-dependent immune responses in the tumor microenvironment. Specifically, we show that CAR-NKT cells eliminate CD1d-expressing M2-like macrophages. In addition, CAR-NKT cells promote epitope spreading and activation of endogenous T cell responses against tumor-associated neoantigens. Finally, we observed that CAR-NKT cells …
National Liver Cancer Screening Trial (Tracer) Study Protocol, Amit G Singal, Neehar D Parikh, Fasiha Kanwal, Jorge A Marrero, Sneha Deodhar, Stephanie Page-Lester, Camden Lopez, Ziding Feng, Nabihah Tayob
National Liver Cancer Screening Trial (Tracer) Study Protocol, Amit G Singal, Neehar D Parikh, Fasiha Kanwal, Jorge A Marrero, Sneha Deodhar, Stephanie Page-Lester, Camden Lopez, Ziding Feng, Nabihah Tayob
Faculty, Staff and Students Publications
BACKGROUND: Professional guidelines recommend HCC screening in at-risk patients using semi-annual ultrasound with or without alpha-fetoprotein (AFP); however, this strategy has limited effectiveness due to low adherence and sensitivity. Increasing data support the potential role of blood-based biomarker panels, which could improve both aspects. The biomarker panel GALAD, comprised of sex, age, and 3 blood biomarkers (AFP, AFP-L3, and des-carboxy prothrombin des-carboxy prothrombin), has shown high sensitivity and specificity in biomarker phase II (case-control) and phase III (retrospective cohort) validation studies. However, prospective validation in a large phase IV biomarker clinical utility trial is necessary before its adoption in practice. …
Transcriptomic And Epigenomic Signatures Distinguish High- And Low-Risk Endotypes For Liver Tumor Development, Sandra L Grimm, Tia Talley, Rahul K Jangid, Amrit Koirala, Micah B Castillo, Preethi H Gunaratne, Cristian Coarfa, Cheryl L Walker
Transcriptomic And Epigenomic Signatures Distinguish High- And Low-Risk Endotypes For Liver Tumor Development, Sandra L Grimm, Tia Talley, Rahul K Jangid, Amrit Koirala, Micah B Castillo, Preethi H Gunaratne, Cristian Coarfa, Cheryl L Walker
Faculty, Staff and Students Publications
The epigenome is a target for environmental exposures and a potential determinant of inter-individual differences in response. In genetically identical C57Bl/6 mice exposed from gestation to weaning to the endocrine-disrupting chemical (EDC) tributyltin (TBT), hepatic tumor development later in life varied across multiple cohorts over time and depending on sex and diet. In one cohort where approximately half of TBT-exposed male mice developed liver tumors at 10 months (Katz et al. Hepatic tumor formation in adult mice developmentally exposed to organotin, Environmental Health Perspectives, 128 (1), 17010, 2020), transcriptomic (RNA-seq) and epigenomic (ChIP-seq) profiling was performed on blood and liver …
Loss-Of-Function In Rbbp5 Results In A Syndromic Neurodevelopmental Disorder Associated With Microcephaly, Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V Jangam, Odelia Chorin, Annick Rothschild, Ortal Barel, Milena Mariani, Maria Iascone, Han Xue, Undiagnosed Diseases Network, Jing Huang, Cyril Mignot, Boris Keren, Virginie Saillour, Annelise Y Mah-Som, Stephanie Sacharow, Farrah Rajabi, Carrie Costin, Shinya Yamamoto, Oguz Kanca, Hugo J Bellen, Jill A Rosenfeld, Christina G S Palmer, Stanley F Nelson, Michael F Wangler, Julian A Martinez-Agosto
Loss-Of-Function In Rbbp5 Results In A Syndromic Neurodevelopmental Disorder Associated With Microcephaly, Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V Jangam, Odelia Chorin, Annick Rothschild, Ortal Barel, Milena Mariani, Maria Iascone, Han Xue, Undiagnosed Diseases Network, Jing Huang, Cyril Mignot, Boris Keren, Virginie Saillour, Annelise Y Mah-Som, Stephanie Sacharow, Farrah Rajabi, Carrie Costin, Shinya Yamamoto, Oguz Kanca, Hugo J Bellen, Jill A Rosenfeld, Christina G S Palmer, Stanley F Nelson, Michael F Wangler, Julian A Martinez-Agosto
Faculty, Staff and Students Publications
PURPOSE: Epigenetic dysregulation has been associated with many inherited disorders. RBBP5 (HGNC:9888) encodes a core member of the protein complex that methylates histone 3 lysine-4 and has not been implicated in human disease.
METHODS: We identify 5 unrelated individuals with de novo heterozygous variants in RBBP5. Three nonsense/frameshift and 2 missense variants were identified in probands with neurodevelopmental symptoms, including global developmental delay, intellectual disability, microcephaly, and short stature. Here, we investigate the pathogenicity of the variants through protein structural analysis and transgenic Drosophila models.
RESULTS: Both missense p.(T232I) and p.(E296D) variants affect evolutionarily conserved amino acids located at the …
Macrophage Iron Dyshomeostasis Promotes Aging-Related Renal Fibrosis, Lingzhi Wu, Hongchun Lin, Shaomin Li, Yuebo Huang, Yuxiang Sun, Shuangshuang Shu, Ting Luo, Tiantian Liang, Weiyan Lai, Jialing Rao, Zhaoyong Hu, Hui Peng
Macrophage Iron Dyshomeostasis Promotes Aging-Related Renal Fibrosis, Lingzhi Wu, Hongchun Lin, Shaomin Li, Yuebo Huang, Yuxiang Sun, Shuangshuang Shu, Ting Luo, Tiantian Liang, Weiyan Lai, Jialing Rao, Zhaoyong Hu, Hui Peng
Faculty, Staff and Students Publications
Renal aging, marked by the accumulation of senescent cells and chronic low-grade inflammation, leads to renal interstitial fibrosis and impaired function. In this study, we investigate the role of macrophages, a key regulator of inflammation, in renal aging by analyzing kidney single-cell RNA sequencing data of C57BL/6J mice from 8 weeks to 24 months. Our findings elucidate the dynamic changes in the proportion of kidney cell types during renal aging and reveal that increased macrophage infiltration contributes to chronic low-grade inflammation, with these macrophages exhibiting senescence and activation of ferroptosis signaling. CellChat analysis indicates enhanced communications between macrophages and tubular …
Pharmacogenomic Insights In Psychiatric Care: Uncovering Novel Actionability, Allele-Specific Cyp2d6 Copy Number Variation, And Phenoconversion In 15,000 Patients, Jai N Patel, Sarah A Morris, Raul Torres, Brooke Rhead, Chris Vlangos, Daniel J Mueller, Lisa C Brown, Hailey Lefkofsky, Muneer Ali, Francisco M De La Vega, Kathleen C Barnes, Anthony Zoghbi, Joseph D Stanton, Marcus A Badgeley
Pharmacogenomic Insights In Psychiatric Care: Uncovering Novel Actionability, Allele-Specific Cyp2d6 Copy Number Variation, And Phenoconversion In 15,000 Patients, Jai N Patel, Sarah A Morris, Raul Torres, Brooke Rhead, Chris Vlangos, Daniel J Mueller, Lisa C Brown, Hailey Lefkofsky, Muneer Ali, Francisco M De La Vega, Kathleen C Barnes, Anthony Zoghbi, Joseph D Stanton, Marcus A Badgeley
Faculty, Staff and Students Publications
Pharmacogenomic testing has emerged as an aid in clinical decision making for psychiatric providers, but more data is needed regarding its utility in clinical practice and potential impact on patient care. In this cross-sectional study, we determined the real-world prevalence of pharmacogenomic actionability in patients receiving psychiatric care. Potential actionability was based on the prevalence of CYP2C19 and CYP2D6 phenotypes, including CYP2D6 allele-specific copy number variations (CNVs). Combined actionability additionally incorporated CYP2D6 phenoconversion and the novel CYP2C-TG haplotype in patients with available medication data. Across 15,000 patients receiving clinical pharmacogenomic testing, 65% had potentially actionable CYP2D6 and CYP2C19 phenotypes, and …
The Emerging Role Of Long Noncoding Rnas In Sorafenib Resistance Within Hepatocellular Carcinoma, Puneet Vij, Mohammad Shabir Hussain, Sanjaya Satapathy, Everardo Cobos, Manish Kumar Tripathi
The Emerging Role Of Long Noncoding Rnas In Sorafenib Resistance Within Hepatocellular Carcinoma, Puneet Vij, Mohammad Shabir Hussain, Sanjaya Satapathy, Everardo Cobos, Manish Kumar Tripathi
School of Medicine Publications
Hepatocellular carcinoma (HCC), a liver cancer originating from hepatocytes, is a major health concern and among the most common malignancies worldwide. Sorafenib, approved by the U.S. F.D.A., is the primary first-line treatment for patients with advanced HCC. While the preferred first-line systemic regimen for HCC is immunotherapy with Atezolizumab plus bevacizumab or Tremelimumab-actl + durvalumab, Sorafenib is still an alternative recommended regimen. While some patients with advanced HCC may benefit from Sorafenib treatment, most eventually develop resistance, leading to poor prognosis. Long noncoding RNAs (lncRNAs) have been found to play a critical role in tumorigenesis and the development of HCC, …
Malignant Transformation And Tumour Recurrence In Sacrococcygeal Teratoma: A Global, Retrospective Cohort Study., Lieke J. Van Heurn, Joep P M Derikx, Nigel Hall, Jennifer H. Aldrink, Maria M. Bailez, Lohfa B. Chirdan, Shigehisa Fumino, Afua Hesse, Tuktu Soyer, Shawn D. St Peter, Jos Twisk, Tianyou Yang, Ernst L W Van Heurn, Sct-Study Consortium
Malignant Transformation And Tumour Recurrence In Sacrococcygeal Teratoma: A Global, Retrospective Cohort Study., Lieke J. Van Heurn, Joep P M Derikx, Nigel Hall, Jennifer H. Aldrink, Maria M. Bailez, Lohfa B. Chirdan, Shigehisa Fumino, Afua Hesse, Tuktu Soyer, Shawn D. St Peter, Jos Twisk, Tianyou Yang, Ernst L W Van Heurn, Sct-Study Consortium
Manuscripts, Articles, Book Chapters and Other Papers
INTRODUCTION: Sacrococcygeal teratoma (SCT) is a rare congenital tumour. The risk of malignancy and recurrence are not well defined. Previous studies are small and report differing conclusions about the timing of surgery and the duration of follow-up. We studied the risk of malignant transformation and SCT recurrence after surgery to address these gaps.
METHODS: This was a global retrospective cohort study. Data of consecutive SCT patients was obtained from 145 institutes in 62 countries. Malignant transformation, defined as malignancy at initial resection, malignant recurrence or death due to malignancy, and its risk factors were analysed.
RESULTS: Of the 3612 included …
Weight Loss In Subjects With Type 2 Diabetes Before And After Sars-Cov2 Infection - A Retrospective Observational Study, Roxana Adriana Stoica, Florentina Gherghiceanu, Denisa Nedelcu, Valeria- Anca Pietrosel, Cristina Ioana Bica, Teodor Salmen, Claudiu Teodorescu, Mihaela Simona Popoviciu, Anca Pantea Stoian
Weight Loss In Subjects With Type 2 Diabetes Before And After Sars-Cov2 Infection - A Retrospective Observational Study, Roxana Adriana Stoica, Florentina Gherghiceanu, Denisa Nedelcu, Valeria- Anca Pietrosel, Cristina Ioana Bica, Teodor Salmen, Claudiu Teodorescu, Mihaela Simona Popoviciu, Anca Pantea Stoian
Journal of Mind and Medical Sciences
Objectives. As weight modification during the COVID-19 pandemic was reported in several circumstances, we aimed to assess the body composition changes using bio impedance in patients with type 2 diabetes mellitus (T2DM) during this period. Materials and Methods. We conducted an observational, retrospective study, from January 2021- June 2021, in two outpatient clinics, enrolling all patients with T2DM and SARS-CoV2 infection that presented for evaluation after the infection. Blood tests (serum creatinine, urea, blood glucose, lipid profile, transaminases, HbA1c) were available before the onset of infection as well as at an interval of 1-3 months post-infection. Results. From a total …
Effects Of The Covid-19 Pandemic On Clinical Manifestations And Therapeutic Outcomes In Acute Endophthalmitis, Ana Maria Dascalu, Sanda Jurja, Carmen Luminita Mocanu, Cristina Alexandrescu, Daniela Stana, Madalina Totir, Ece Ergin, Corneliu Tudor, Catalin Cicerone Grigorescu, Dragos Serban, Laurentiu Simion, Dan Dumitrescu, Andrei Marin, Catalin Teodor Constantinescu, Bogdan Mihai Cristea
Effects Of The Covid-19 Pandemic On Clinical Manifestations And Therapeutic Outcomes In Acute Endophthalmitis, Ana Maria Dascalu, Sanda Jurja, Carmen Luminita Mocanu, Cristina Alexandrescu, Daniela Stana, Madalina Totir, Ece Ergin, Corneliu Tudor, Catalin Cicerone Grigorescu, Dragos Serban, Laurentiu Simion, Dan Dumitrescu, Andrei Marin, Catalin Teodor Constantinescu, Bogdan Mihai Cristea
Journal of Mind and Medical Sciences
Endophthalmitis incidence and clinical characteristics was reported to change during Covid-19 pandemic, due to multiple influencing factors, such as prolonged lockdown periods, persistent immune suppression following Sars-Cov-2 infection, and mask wearing. We conducted a retrospective eight-year study, during January 2016 and December 2023, that aims to investigates the differences in terms of etiology, clinical characteristics and outcomes in cases with acute endophthalmitis, admitted before (2016-2019) and during Covid-19 pandemic (2020-2023). The two study subgroups were homogenous in term of age, gender distribution, associated comorbidities, and addressability. During Covid-19 pandemic there were significant delays in presentation (p=0.02), more cases of endogenous …
Infertility As A Possible Multifactorial Condition; The Experience Of A Single Center, Cristina-Diana Popescu, Bashar Haj Hamoud, Romina Marina Sima, Anca Bobirca, Oana Denisa Balalau, Mihaela Amza, Romeo Micu, Gabriel Petre Gorecki, Liana Ples
Infertility As A Possible Multifactorial Condition; The Experience Of A Single Center, Cristina-Diana Popescu, Bashar Haj Hamoud, Romina Marina Sima, Anca Bobirca, Oana Denisa Balalau, Mihaela Amza, Romeo Micu, Gabriel Petre Gorecki, Liana Ples
Journal of Mind and Medical Sciences
Objectives. Infertility is a topic of great interest around the world because it affects many couples at young ages. It can be caused by genetic background, associated with pathologies and/or external factors. The purpose of our study was to identify the causes of infertility of women presented in our clinic with this pathology. Materials and Methods. This retrospective study was performed on women with primary or secondary infertility. The analyzed data were age, weight, hereditary and personal pathological history, medication, menstrual cycle characteristics, standard blood tests, ultrasound, hysterosalpingography and hysteroscopy. Results. The study included 204 women with average age 35 …
Gastrointestinal Stromal Tumors: A Focus On The Impact Of Interstitial Cells Of Cajal In Disease Development, Petru Radu, Mihai Zurzu, Anca Tigora, Vlad Paic, Mircea Bratucu, Dragos Garofil, Valeriu Surlin, Stefan Patrascu, Virgiliu Prunoiu, Ionut Simion Coman, Valentin Georgescu, Razvan Daniel Chivu, Florian Popa, Victor Strambu, Raluca Gabriela Ioan
Gastrointestinal Stromal Tumors: A Focus On The Impact Of Interstitial Cells Of Cajal In Disease Development, Petru Radu, Mihai Zurzu, Anca Tigora, Vlad Paic, Mircea Bratucu, Dragos Garofil, Valeriu Surlin, Stefan Patrascu, Virgiliu Prunoiu, Ionut Simion Coman, Valentin Georgescu, Razvan Daniel Chivu, Florian Popa, Victor Strambu, Raluca Gabriela Ioan
Journal of Mind and Medical Sciences
Introduction. Interstitial Cells of Cajal (ICCs) play a critical role in the regulation of gastrointestinal motility and have been implicated in various functional gastrointestinal disorders. Recent research indicates a possible association between ICCs and the tumor risk of Gastrointestinal Stromal Tumors (GISTs). This research aims to examine the clinical, histopathological, and biomolecular characteristics of ICCs and their relevance in assessing GIST risk. Materials and Methods. This study examined fourteen GIST patients who underwent surgical intervention at the Surgery Department of Carol Davila Nephrology Hospital in Bucharest. Parameters including age, gender, tumor location/ dimensions were scrutinized. Immunohistochemistry employing markers CD117, DOG-1, …
Survival Prognostic Factors And Molecular Aspects In Extremity Soft Tissue Sarcoma, Bogdan Serban, Eugen Radu, Adrian Cursaru, Bogdan Stefan Cretu, Sergiu Andrei Iordache, Madalina Cirnu, Cosmin Florentin Niculae, Cătălin Florin Cîrstoiu
Survival Prognostic Factors And Molecular Aspects In Extremity Soft Tissue Sarcoma, Bogdan Serban, Eugen Radu, Adrian Cursaru, Bogdan Stefan Cretu, Sergiu Andrei Iordache, Madalina Cirnu, Cosmin Florentin Niculae, Cătălin Florin Cîrstoiu
Journal of Mind and Medical Sciences
Soft tissue sarcomas are defined as relatively rare, wide-ranging mesenchymal tumors that present several forms of aggressive behavior. In order to improve the therapeutic result and thus the patient's prognosis, reliable diagnostic and evaluation tools are needed, capable of establishing the evolutive pattern of each patient. Materials and Methods. An analytical observational study was conducted in the period 2016-2023 in the Orthopedics Department of the Bucharest University Emergency Hospital, on patients diagnosed with soft tissue sarcoma. Data such as sex, age, site, size, depth, histotype, grade and margin status, vessel or bone involvement, adenopathies, adjuvant therapy, clinical findings, etc., were …
Artificial Intelligence And Liver Transplantation; Literature Review, Maria Serban, Irina Balescu, Sorin Petrea, Bogdan Gaspar, Lucian Pop, Valentin Varlas, Marilena Stoian, Camelia Diaconu, Cristian Balalau, Nicolae Bacalbasa
Artificial Intelligence And Liver Transplantation; Literature Review, Maria Serban, Irina Balescu, Sorin Petrea, Bogdan Gaspar, Lucian Pop, Valentin Varlas, Marilena Stoian, Camelia Diaconu, Cristian Balalau, Nicolae Bacalbasa
Journal of Mind and Medical Sciences
Liver transplantation is the last life-saving solution for patients with end stage liver disease. The discrepancy between waiting list and available organs has led to the appearance of extended donation criteria and the development of several scores (Child-Pugh score, MELD score, DRI score, SOFT score), in order to find the most suitable donor-recipient match. But none of these scores can predict survival after transplantation. Artificial Intelligence (AI) has recently been shown as an excellent tool for the study of the liver and comes in this aid with its various methods (random forest, artificial neural networks, decision tree, Bayesian networks, and …
Diabetes Mellitus And Associated Complications In The Digestive Tract, Ioana Paunica, Vlad Denis Constantin, Dragos Serban, Cristian Paius, Bogdan Gaspar, Dragos Epistatu, Valentin Verlas, Roxana Sfetea, Liliana Florina Andronache, Cristian Balalau, Daniela Gabriela Bălan, Alexandru Florin Motofei, Adrian Silaghi
Diabetes Mellitus And Associated Complications In The Digestive Tract, Ioana Paunica, Vlad Denis Constantin, Dragos Serban, Cristian Paius, Bogdan Gaspar, Dragos Epistatu, Valentin Verlas, Roxana Sfetea, Liliana Florina Andronache, Cristian Balalau, Daniela Gabriela Bălan, Alexandru Florin Motofei, Adrian Silaghi
Journal of Mind and Medical Sciences
Diabetes mellitus presents an increasing prevalence and severe multisystemic complications, with notable personal, professional and social implications. Diabetes is generally known by hyperglycemia and subsequent metabolic disorders. In addition to hyperglycemia, it appears that other factors (related to anthropometric-pathophysiology and genome-based subphenotyping) are involved not only in the clinical course but also in the occurrence of diabetes complications. This review presents several diabetes-induced complications on the digestive tract (periodontal disease, xerostomia, oral infections, dental caries, taste disturbances, gastroesophageal reflux disease, gastroparesis, gastric ulcer and cancer, diabetic enteropathy, inflammatory bowel diseases, colorectal cancer, etc.), many of them with major implications and …
Giant Adrenal Myelolipomas: A Literature Review, Mircea Hogea, Anda Hogea, Marius Moga, Roxana Dragomir, Simona Grigorescu, Bogdan Socea
Giant Adrenal Myelolipomas: A Literature Review, Mircea Hogea, Anda Hogea, Marius Moga, Roxana Dragomir, Simona Grigorescu, Bogdan Socea
Journal of Mind and Medical Sciences
Myelolipomas are described as small tumors, with some authors referring to sizes less than 4 cm in diameter. However, when greater than 10 cm, myelolipomas are labeled as giant tumors and thus, have a definite indication for surgical resection. Myelolipomas represent a small percentage of adrenal tumors. Giant myelolipomas are usually discovered incidentally during imaging studies performed for other conditions. They are often slow-growing and may reach sizes that significantly distort the anatomy of the affected area. Despite their large size, they are usually benign and do not spread to other parts of the body. Adrenal myelolipoma is a benign …
Pancreatic Cancer; From Effective Prevention And Early Diagnosis To Personalized Therapy, Adrian Silaghi, Dragos Serban, Bogdan Gaspar, Valentin Verlas, Dragos Epistatu, Cristian Paius, Roxana Sfetea, Liliana Andronache, Ioana Paunica, Irina Ruxandra Strambu, Daniela Gabriela Bălan, Alexandru Florin Motofei, Vlad Denis Constantin
Pancreatic Cancer; From Effective Prevention And Early Diagnosis To Personalized Therapy, Adrian Silaghi, Dragos Serban, Bogdan Gaspar, Valentin Verlas, Dragos Epistatu, Cristian Paius, Roxana Sfetea, Liliana Andronache, Ioana Paunica, Irina Ruxandra Strambu, Daniela Gabriela Bălan, Alexandru Florin Motofei, Vlad Denis Constantin
Journal of Mind and Medical Sciences
Despite substantial improvements in survival rates for most cancers, pancreatic cancer still remains a leading cause of death from malignancy. The disease has no symptoms in the initial stages, it can early invade the surrounding organs, and treatment methods have poor long-term prognosis. In addition, this neoplasia is starting to be diagnosed more and more frequently in young people. High incidences have been found in developed regions such as Europe, North America, Australia, but recent data show that this condition is increasing in other regions as well. Pancreatic cancer involves multiple factors such as cigarette smoking, obesity, diabetes, alcohol consumption, …